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295 results on '"A A Vaiman"'

1. Pan-Genomic Regulation of Gene Expression in Normal and Pathological Human Placentas

Author: Clara Apicella, Camino S. M. Ruano, Basky Thilaganathan, Asma Khalil, Veronica Giorgione, Géraldine Gascoin, Louis Marcellin, Cassandra Gaspar, Sébastien Jacques, Colin E. Murdoch, Francisco Miralles, Céline Méhats, Daniel Vaiman, Des gamètes à la naissance : génomique, épigénétique et physiopathologie de la reproduction | From Gametes To Birth (FGTB), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), and European Project: 765274,H2020-MSCA-ITN-2017,iPLACENTA(2018)
Subjects: preeclampsia, MESH: Humans, MESH: Pregnancy, placenta, expression Quantitative Trait Loci, MESH: Trophoblasts, MESH: Transcriptome, MESH: Genomics, [SDV]Life Sciences [q-bio], General Medicine, MESH: Placenta, MESH: Female, MESH: Gene Expression Regulation
Abstract: International audience; In this study, we attempted to find genetic variants affecting gene expression (eQTL = expression Quantitative Trait Loci) in the human placenta in normal and pathological situations. The analysis of gene expression in placental diseases (Pre-eclampsia and Intra-Uterine Growth Restriction) is hindered by the fact that diseased placental tissue samples are generally taken at earlier gestations compared to control samples. The difference in gestational age is considered a major confounding factor in the transcriptome regulation of the placenta. To alleviate this significant problem, we propose here a novel approach to pinpoint disease-specific cis-eQTLs. By statistical correction for gestational age at sampling as well as other confounding/surrogate variables systematically searched and identified, we found 43 e-genes for which proximal SNPs influence expression level. Then, we performed the analysis again, removing the disease status from the covariates, and we identified 54 e-genes, 16 of which are identified de novo and, thus, possibly related to placental disease. We found a highly significant overlap with previous studies for the list of 43 e-genes, validating our methodology and findings. Among the 16 disease-specific e-genes, several are intrinsic to trophoblast biology and, therefore, constitute novel targets of interest to better characterize placental pathology and its varied clinical consequences. The approach that we used may also be applied to the study of other human diseases where confounding factors have hampered a better understanding of the pathology.
Published: 2023
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2. Co-invalidation of Prnp and Sprn in FVB/N mice affects reproductive performances and highlight complex biological relationship between PrP and Shadoo

Author: Anne Vaiman, Daniel Vaiman, Anne-Laure Gaillard, Marthe Vilotte, Samira Makhzami, Nathalie Daniel-Carlier, Amandine Duchesne, Pierre Calvel, Sandrine Floriot, Sophie Mouillet-Richard, Katayoun Moazami-Goudarzi, Vincent Béringue, Johan Castille, Jean-Luc Vilotte, Sandrine Truchet, Christian Beauvallet, Olivier Andreoletti, Bruno Passet, Génétique Animale et Biologie Intégrative (GABI), Université Paris-Saclay-AgroParisTech-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Virologie et Immunologie Moléculaires (VIM (UR 0892)), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), and INRAE Animal Genetic department project AAP.GA.2013
Subjects: Male, 0301 basic medicine, Protein family, [SDV]Life Sciences [q-bio], Biophysics, Embryonic Development, Mice, Transgenic, Nerve Tissue Proteins, Biology, GPI-Linked Proteins, Biochemistry, Prion Proteins, PRNP, Transcriptome, Mice, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Animals, Lactation, Molecular Biology, Gene, Mice, Knockout, Gene knockdown, [SDV.GEN]Life Sciences [q-bio]/Genetics, Reproduction, Embryogenesis, Cell Biology, Phenotype, Placentation, Cell biology, 030104 developmental biology, Animals, Newborn, 030220 oncology & carcinogenesis, Knockout mouse, Female, Genes, Lethal
Abstract: International audience; Shadoo and PrP belongs to the same protein family, whose biological function remains poorly understood. Previous experiments reported potential functional redundancies or antagonisms between these two proteins, depending on the tissue analysed. While knockdown experiments suggested the requirement of Shadoo in the absence of PrP during early mouse embryogenesis, knockout ones, on the contrary, highlighted little impact, if any, of the double-knockout of these two loci. In the present study, we reinvestigated the phenotype associated with the concomitant knockout of these two genes using newly produced FVB/N Sprn knockout mice. In this genetic background, the combined two genes & rsquo; knockout induces intra-uterine growth retardations, likely resulting from placental failures highlighted by transcriptomic analyses that revealed potential redundant or antagonist roles of these two proteins in different developmental-related pathways. It also induced an increased perinatal-lethality and ascertained the role of these two loci in the lactation process.
Published: 2021
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3. The Prion-like protein Shadoo is involved in mouse embryonic and mammary development and differentiation

Author: Passet, Bruno, Castille, Johan, Makhzami, Samira, Truchet, Sandrine, Vaiman, Anne, Floriot, Sandrine, Moazami-Goudarzi, Katayoun, Vilotte, Marthe, Gaillard, Anne-Laure, Hélary, Louise, Bertaud, Maud, Andreoletti, Olivier, Vaiman, Daniel, Calvel, Pierre, Daniel-Carlier, Nathalie, Moudjou, Mohammed, Beauvallet, Christian, Benharouga, Mohamed, Laloë, Denis, Mouillet-Richard, Sophie, Duchesne, Amandine, Béringue, Vincent, Vilotte, Jean-Luc, Génétique Animale et Biologie Intégrative (GABI), Université Paris-Saclay-AgroParisTech-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Virologie et Immunologie Moléculaires (VIM (UR 0892)), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Interactions hôtes-agents pathogènes [Toulouse] (IHAP), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Biologie des Métaux (BioMet ), Laboratoire de Chimie et Biologie des Métaux (LCBM - UMR 5249), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Département de Génétique des Animaux (INRA), Institut National de la Recherche Agronomique (INRA), Laboratoire Bordelais de Recherche en Informatique (LaBRI), Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Université Sciences et Technologies - Bordeaux 1-Université Bordeaux Segalen - Bordeaux 2, Laboratoire de Physiologie et Génomique des Poissons (LPGP), Institut National de la Recherche Agronomique (INRA)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Groupe d'Etude de la Reproduction Chez l'Homme et les Mammiferes (GERHM), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-IFR140-Institut National de la Santé et de la Recherche Médicale (INSERM), Biologie du Développement et Reproduction (BDR), Unité de recherche Virologie et Immunologie Moléculaires (VIM), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), École pratique des hautes études (EPHE)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité de virologie et immunologie moléculaires, Vilotte, Jean-Luc, AgroParisTech-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and École Pratique des Hautes Études (EPHE)
Subjects: Mice, Knockout, Organogenesis, [SDV]Life Sciences [q-bio], lcsh:R, Embryonic Development, lcsh:Medicine, Cell Differentiation, Mouse Embryonic Stem Cells, Nerve Tissue Proteins, Development, GPI-Linked Proteins, Prion Proteins, Article, Prion Diseases, [SDV] Life Sciences [q-bio], Mice, Mammary Glands, Animal, Developmental biology, [SDV.BDD] Life Sciences [q-bio]/Development Biology, Animals, Humans, lcsh:Q, lcsh:Science, [SDV.BDD]Life Sciences [q-bio]/Development Biology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience; Shadoo belongs to the prion protein family, an evolutionary conserved and extensively studied family due to the implication of prp in transmissible Spongiform encephalopathies. However, the biological function of these genes remains poorly understood. While Sprn-knockdown experiments suggested an involvement of Shadoo during mouse embryonic development, Sprn-knockout experiments in 129Pas/ C57BL/6J or 129Pas/FVB/NCr mice did not confirm it. In the present study, we analyzed the impact of Sprn gene invalidation in a pure FVB/NJ genetic background, using a zinc finger nuclease approach. The in-depth analysis of the derived knockout transgenic mice revealed a significant increase in embryonic lethality at early post-implantation stages, a growth retardation of young Sprn-knockout pups fed by wild type mice and a lactation defect of Sprn-knockout females. Histological and transcriptional analyses of knockout E7.5 embryos, E14.5 placentas and G7.5 mammary glands revealed specific roles of the Shadoo protein in mouse early embryogenesis, tissue development and differentiation with a potential antagonist action between prp and Shadoo. this study thus highlights the entanglement between the proteins of the prion family.
Published: 2020
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4. Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA

Author: Daniel Vaiman, Paul Laissue, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biopas Laboratoires [Bogotá, Colombia], Biopas Group [Bogotá, Colombia], Center For Research in Genetics and Genomics-CIGGUR [Bogotá, Colombia] (GENIUROS Research Group), School of Medicine and Health Sciences [Bogotá, Colombia]-Universidad del Rosario [Bogotá, Colombia], Vaiman, Daniel, and Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Genetic code, [SDV]Life Sciences [q-bio], Disease, Review, Tp53bp1 gene, 030204 cardiovascular system & hematology, Gene, chemistry.chemical_compound, 0302 clinical medicine, Pre-Eclampsia, Pregnancy, Ano9 gene, Medicine, High throughput sequencing, 030212 general & internal medicine, Next-generation sequencing (ngs), Genetic biomarker, Allele, Massive parallel sequencing, [SDV.BDLR.RS] Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, Molecular medicine, Next-generation sequencing (NGS), Trim28 gene, Nrlp2 gene, High-Throughput Nucleotide Sequencing, [SDV] Life Sciences [q-bio], Phenotype, Hypertension, Placenta development, Identification (biology), Female, Human, Zfr2 gene, Early detection, Computational biology, Acvr2a gene, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, 03 medical and health sciences, Internal Medicine, Humans, Genetic variation, Gene mutation, Nrlp14 gene, [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology, Molecular pathology, business.industry, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Biochemical biomarkers, Dna, DNA, Maternal plasma, Nonhuman, Tmtc1 gene, Preeclampsia, Environmental factor, Khdc3l gene, Dna sequencing, chemistry, Etiology, Genetic association, business
Abstract: Purpose of Review: This manuscript aims to review (for the first time) studies describing NGS sequencing of preeclampsia (PE) women’s DNA. Recent Findings: Describing markers for the early detection of PE is an essential task because, although associated molecular dysfunction begins early on during pregnancy, the disease’s clinical signs usually appear late in pregnancy. Although several biochemical biomarkers have been proposed, their use in clinical environments is still limited, thereby encouraging research into PE’s genetic origin. Hundreds of genes involved in numerous implantation- and placentation-related biological processes may be coherent candidates for PE aetiology. Next-generation sequencing (NGS) offers new technical possibilities for PE studying, as it enables large genomic regions to be analysed at affordable cost. This technique has facilitated the description of genes contributing to the molecular origin of a significant amount of monogenic and complex diseases. Regarding PE, NGS of DNA has been used in familial and isolated cases, thereby enabling new genes potentially related to the phenotype to be proposed. Summary: For a better understanding of NGS, technical aspects, applications and limitations are presented initially. Thereafter, NGS studies of DNA in familial and non-familial cases are described, including pitfalls and positive findings. The information given here should enable scientists and clinicians to analyse and design new studies permitting the identification of novel clinically useful molecular PE markers. © 2020, Springer Science+Business Media, LLC, part of Springer Nature.
Published: 2020
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5. Urothelial Cancer Associated 1 (UCA1) and miR-193 Are Two Non-coding RNAs Involved in Trophoblast Fusion and Placental Diseases

Author: Apicella, Clara, Ruano, Camino, Jacques, Sébastien, Gascoin, Géraldine, Méhats, Céline, Vaiman, Daniel, Miralles, Francisco, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), and Miralles, Francisco
Subjects: [SDV.BIBS] Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], placenta, intra uterine growth restriction, Cell Biology, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, trophoblast, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], preeclampsia, Cell and Developmental Biology, [SDV.MHEP.GEO] Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, syncytialisation, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], embryonic structures, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], non-coding RNAs, Original Research, Developmental Biology
Abstract: International audience; A bioinformatics screen for non-coding genes was performed from microarrays analyzing on the one hand trophoblast fusion in the BeWo cell model, and on the other hand, placental diseases (preeclampsia and Intra-Uterine Growth Restriction). Intersecting the deregulated genes allowed to identify two miRNA (mir193b and miR365a) and one long non-coding RNA (UCA1) that are pivotal for trophoblast fusion, and deregulated in placental diseases. We show that miR-193b is a hub for the down-regulation of 135 cell targets mainly involved in cell cycle progression and energy usage/nutrient transport. UCA1 was explored by siRNA knock-down in the BeWo cell model. We show that its down-regulation is associated with the deregulation of important trophoblast physiology genes, involved in differentiation, proliferation, oxidative stress, vacuolization, membrane repair and endocrine production. Overall, UCA1 knockdown leads to an incomplete gene expression profile modification of trophoblast cells when they are induced to fuse into syncytiotrophoblast. Then we performed the same type of analysis in cells overexpressing one of the two major isoforms of the STOX1 transcription factor, STOX1A and STOX1B (associated previously to impaired trophoblast fusion). We could show that when STOX1B is abundant, the effects of UCA1 down-regulation on forskolin response are alleviated.
Published: 2021
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6. Battle of the Sex Chromosomes: Competition between X and Y Chromosome-Encoded Proteins for Partner Interaction and Chromatin Occupancy Drives Multicopy Gene Expression and Evolution in Muroid Rodents

Author: Moretti, Charlotte, Blanco, Mélina, Ialy-Radio, Côme, Serrentino, Maria-Elisabetta, Gobé, Clara, Friedman, Robin, Battail, Christophe, Leduc, Marjorie, Ward, Monika A, Vaiman, Daniel, Tores, Frederic, Cocquet, Julie, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut de Génomique Fonctionnelle de Lyon (IGFL), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Ohana Biosciences [Cambridge, MA, USA] (OB), Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Plateforme protéomique 3P5 [Institut Cochin] (3P5), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University of Hawai'i [Honolulu] (UH), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), ANR-17-CE12-0004,CHROMATOZOA,(Dé)régulation génique et chromatinienne pendant la spermiogénèse: acteurs & conséquences sur la descendance(2017), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), and COCQUET, JULIE
Subjects: Male, X Chromosome, multicopy genes, Cell Cycle Proteins, AcademicSubjects/SCI01180, H3K4 methylation, behavioral disciplines and activities, Y Chromosome, [SDV.BID.EVO] Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], Animals, Discoveries, [SDV.BDD.GAM]Life Sciences [q-bio]/Development Biology/Gametogenesis, [SDV.BDD.GAM] Life Sciences [q-bio]/Development Biology/Gametogenesis, transmission distorters, sex chromosomes, [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], AcademicSubjects/SCI01130, rodent, Nuclear Proteins, Proteins, sex ratio, Biological Evolution, Spermatids, spermatogenesis, DNA-Binding Proteins, Mice, Inbred C57BL, Transcription Initiation Site, intragenomic conflict, gene regulation, Protein Kinases
Abstract: International audience; Abstract Transmission distorters (TDs) are genetic elements that favor their own transmission to the detriments of others. Slx/Slxl1 (Sycp3-like-X-linked and Slx-like1) and Sly (Sycp3-like-Y-linked) are TDs, which have been coamplified on the X and Y chromosomes of Mus species. They are involved in an intragenomic conflict in which each favors its own transmission, resulting in sex ratio distortion of the progeny when Slx/Slxl1 versus Sly copy number is unbalanced. They are specifically expressed in male postmeiotic gametes (spermatids) and have opposite effects on gene expression: Sly knockdown leads to the upregulation of hundreds of spermatid-expressed genes, whereas Slx/Slxl1-deficiency downregulates them. When both Slx/Slxl1 and Sly are knocked down, sex ratio distortion and gene deregulation are corrected. Slx/Slxl1 and Sly are, therefore, in competition but the molecular mechanism remains unknown. By comparing their chromatin-binding profiles and protein partners, we show that SLX/SLXL1 and SLY proteins compete for interaction with H3K4me3-reader SSTY1 (Spermiogenesis-specific-transcript-on-the-Y1) at the promoter of thousands of genes to drive their expression, and that the opposite effect they have on gene expression is mediated by different abilities to recruit SMRT/N-Cor transcriptional complex. Their target genes are predominantly spermatid-specific multicopy genes encoded by the sex chromosomes and the autosomal Speer/Takusan. Many of them have coamplified with not only Slx/Slxl1/Sly but also Ssty during muroid rodent evolution. Overall, we identify Ssty as a key element of the X versus Y intragenomic conflict, which may have influenced gene content and hybrid sterility beyond Mus lineage since Ssty amplification on the Y predated that of Slx/Slxl1/Sly.
Published: 2020
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7. Survey of mitochondrial sequences integrated into the bovine nuclear genome

Author: Grau, Erwin Tramontin, Charles, Mathieu, Féménia, Maureen, Rebours, Emmanuelle, Vaiman, Anne, Rocha, Dominique, Génétique Animale et Biologie Intégrative (GABI), Université Paris-Saclay-AgroParisTech-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Système d'Information des GENomes des Animaux d'Elevage (SIGENAE), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), and French National Institute for Agricultural Research (INRA)
Subjects: Cell Nucleus, Gene Rearrangement, Genome, [SDV.BA]Life Sciences [q-bio]/Animal biology, lcsh:R, lcsh:Medicine, DNA, Mitochondrial, Polymerase Chain Reaction, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Article, Genome evolution, Mitochondria, Mitochondrial genome, Genome, Mitochondrial, Animals, Cattle, lcsh:Q, lcsh:Science, Repetitive Sequences, Nucleic Acid
Abstract: International audience; Abstract Nuclear copies of the mitochondrial DNA (NUMTs) have already been described in several species. In this context, we identified and analysed 166 bovine NUMT regions with a total length of 430 kbp, representing about 0.02% of the cattle nuclear genome. Copies of all mitochondrial regions were detected in the nuclear genome, with distinct degrees of sequence similarity to the mitogenome. Some NUMT regions include large mitogenome segments and show high similarity to the organelle genome sequence. NUMT regions are frequently modified by insertion of repetitive sequences and by sequence rearrangements. We confirmed the existence of 29 NUMT regions by PCR amplification using DNA from the cow (Dominette) which was used to generate the bovine genome reference sequence, ruling out the possibility that these NUMTs could be artifacts of the genome assembly. As there are NUMT regions with high similarity to the mitogenome, special care is needed when designing primers for mitochondrial DNA amplification. Our results can therefore be used to avoid co-amplification of bovine nuclear sequences similar to mitochondrial DNA.
Published: 2020
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8. Hepatic transcriptome and DNA methylation patterns following perinatal and chronic BPS exposure in male mice

Author: Axelle, Brulport, Daniel, Vaiman, Elias, Bou-Maroun, Marie-Christine, Chagnon, Ludovic Le, Corre, Equipe NuTox (LNC - U1231) (NUTOX), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Physico-Chimie de l'Aliment et du Vin (PCAV), Procédés Alimentaires et Microbiologiques [Dijon] (PAM), and Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement
Subjects: Male, DNA methylation, lcsh:QH426-470, Bisphenol S, lcsh:Biotechnology, Perinatal and chronic exposure, Phosphatidate Phosphatase, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Mice, lcsh:Genetics, Phenols, Liver, Pregnancy, lcsh:TP248.13-248.65, Animals, Female, Sulfones, Benzhydryl Compounds, Transcriptome, hormones, hormone substitutes, and hormone antagonists, Research Article
Abstract: Background Bisphenol S (BPS) is a common bisphenol A (BPA) substitute, since BPA is virtually banned worldwide. However, BPS and BPA have both endocrine disrupting properties. Their effects appear mostly in adulthood following perinatal exposures. The objective of the present study was to investigate the impact of perinatal and chronic exposure to BPS at the low dose of 1.5 μg/kg body weight/day on the transcriptome and methylome of the liver in 23 weeks-old C57BL6/J male mice. Results This multi-omic study highlights a major impact of BPS on gene expression (374 significant deregulated genes) and Gene Set Enrichment Analysis show an enrichment focused on several biological pathways related to metabolic liver regulation. BPS exposure also induces a hypomethylation in 58.5% of the differentially methylated regions (DMR). Systematic connections were not found between gene expression and methylation profile excepted for 18 genes, including 4 genes involved in lipid metabolism pathways (Fasn, Hmgcr, Elovl6, Lpin1), which were downregulated and featured differentially methylated CpGs in their exons or introns. Conclusions This descriptive study shows an impact of BPS on biological pathways mainly related to an integrative disruption of metabolism (energy metabolism, detoxification, protein and steroid metabolism) and, like most high-throughput studies, contributes to the identification of potential exposure biomarkers. Graphical abstract Supplementary Information The online version contains supplementary material available at 10.1186/s12864-020-07294-3.
Published: 2020
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9. Different exposure windows to low doses of genistein and/or vinclozolin result in contrasted disorders of testis function and gene expression of exposed rats and their unexposed progeny

Author: Jacques Auger, Badria Bennani Smires, Raymond Berges, Florence Eustache, Daniel Vaiman, Marie-Chantal Canivenc-Lavier, Delphine Moison, Université de Paris, Institut Cochin, Institut National de la Santé et de la Recherche Médicale INSERM U1016, Centre National de la Recherche Scientifique CNRS UMR8104, F-75014 Paris isabelle.dusanter@inserm.fr., Stabilité génétique, Cellules Souches et Radiations (SCSR (U_967)), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), French Program on Endocrine Disruption (PNRPE) = CV05000147., Elsevier Inc., Program on Endocrine Disruption (PNRPE) = CV05000147., Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), and Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Adult, Male, exposure window, Offspring, mRNA, Physiology, Genistein, Gene Expression, 010501 environmental sciences, Biology, 01 natural sciences, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Pregnancy, Testis, Weaning, Endocrine system, Animals, Humans, 030212 general & internal medicine, Vinclozolin, Oxazoles, 0105 earth and related environmental sciences, General Environmental Science, [SDV.EE]Life Sciences [q-bio]/Ecology, environment, [SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, Reproductive function, endocrine disruption, Rats, chemistry, Prenatal Exposure Delayed Effects, Gestation, Female, male reproduction, Spermatogenesis, multigenerational
Abstract: International audience; Living species including humans are continuously exposed to low levels of a myriad of endocrine active compounds that may affect their reproductive function. In contrast, experimental designs scrutinizing this question mostly consider the gestational/lactational period, select high unrealistic doses and, have rarely investigated the possible reproductive consequences in the progeny. The present study aimed at assessing comparatively a set of male reproductive endpoints according to exposure windows, gestational/lactational versus pre-pubertal to adulthood, using low doses of endocrine active substances in male rats as well as their unexposed male progeny. Animals were orally exposed to 1 mg/kg bw/d of genistein and/or vinclozolin, from conception to weaning or from prepuberty to young adulthood. A number of reproductive endpoints were assessed as well as testicular mRNA expression profiles, in the exposed rats and their unexposed progeny. Overall, the low dosage used only affected weakly most of classical reproductive endpoints. However, the gestational/lactational exposure to vinclozolin alone or combined to genistein significantly delayed the puberty onset. Contrasting with the gestational/lactational exposure, a decreased sperm production was found in the animals exposed to genistein and vinclozolin from the pre-pubertal period but also in their progeny for vinclozolin and the mixture. The expression level of several genes involved in meiosis, apoptosis and steroidogenesis was also affected differentially as a function of the exposure window in both exposed rats and unexposed offspring. We also provide further evidence that doses of endocrine active substances relevant with human exposure may affect the male reproductive phenotype and testicular transcriptome in the exposed generation as well as in the indirectly exposed offspring.
Published: 2020
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10. Identifying new potential genetic biomarkers for HELLP syndrome using massive parallel sequencing

Author: Stephanie Flórez, Daniel Vaiman, Angel Aguirre-García, Silvia Becerra-Bayona, Norma C. Serrano, Tatiana Gómez-Murcia, Adrien Morel, David Bolívar-Salazar, Karen Marcela Jiménez, Luisa Fernanda Castillo, Javier Ardila, Carolina Carlosama, Paul Laissue, María Alejandra González-Rodriguez, Laura Parada-Niño, Institut Cochin (IC UM3 (UMR 8104 / U1016)), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)
Subjects: Gynecology, Genetic Markers, medicine.medical_specialty, HELLP Syndrome, 030219 obstetrics & reproductive medicine, HELLP syndrome, [SDV]Life Sciences [q-bio], Obstetrics and Gynecology, 030204 cardiovascular system & hematology, Biology, medicine.disease, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Case-Control Studies, Exome Sequencing, Internal Medicine, medicine, Humans, Female
Abstract: Introduccion: La preeclampsia (PE) es una enfermedad multisistemica de ocurrencia frecuente que afecta aproximadamente al 5% de los embarazos. Los pacientes con PE pueden desarrollar el sindrome HELLP (hemolisis, enzimas hepaticas elevadas y plaquetas bajas), una afeccion potencialmente mortal para la madre y el feto. La investigacion sobre el origen genetico de HELLP ha sido relativamente infructuosa, principalmente porque la funcion placentaria normal y la regulacion de la presion arterial implican la regulacion fina de cientos de genes. Objetivo: Identificar nuevos genes y mutaciones que constituyan posibles biomarcadores del sindrome HELLP. Diseno del estudio: El presente estudio de casos y controles involucro la secuenciacion del exoma completo de 79 mujeres HELLP no emparentadas. Las variantes candidatas se seleccionaron en una poblacion de control constituida por 176 individuos. Se utilizaron filtros bioinformaticos estrictos para seleccionar variantes de secuencia potencialmente etiologicas en un subconjunto de 487 genes. Utilizamos un modelo robusto de mutacion in silico para predecir el efecto potencial sobre la estructura de la proteina. Resultados: Identificamos numerosas variantes de secuencia en genes relacionados con angiogenesis / coagulacion / regulacion de la presion arterial, diferenciacion / comunicacion / adhesion celular, ciclo celular y regulacion de genes transcripcionales, biologia de la matriz extracelular, metabolismo de lipidos y respuesta inmunologica. Cinco variantes de secuencia generaron codones de parada prematuros en genes que desempenan un papel esencial en la fisiologia placentaria (STOX1, PDGFD, IGF2, MMP1 y DNAH11). Seis variantes (ERAP1- p.Ile915Thr, ERAP2- p.Leu837Ser, COMT-p.His192Gln, CSAD-p.Pro418Ser, CDH1- p.Ala298Thr y CCR2-p.Met249Lys) llevaron a la desestabilizacion de la estructura de las proteinas, ya que tenian una energia significativa y cambios relacionados con la interaccion de residuos. Identificamos al menos dos mutaciones en el 57% de los pacientes, argumentando a favor de un origen poligenico para el sindrome HELLP. Conclusion: Nuestros resultados proporcionan evidencia novedosa sobre el origen genetico de PE / HELLP, lo que lleva a la propuesta de nuevos biomarcadores, con potencial utilidad clinica.
Published: 2020
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11. Molecular Mechanisms of Trophoblast Dysfunction Mediated by Imbalance between STOX1 Isoforms

Author: Ducat, Aurélien, Couderc, Betty, Bouter, Anthony, Biquard, Louise, Aouache, Rajaa, Passet, Bruno, Doridot, Ludivine, Cohen, Marie-Benoîte, Ribaux, Pascale, Apicella, Clara, Gaillard, Irène, Palfray, Sophia, Chen, Yulian, Vargas, Alexandra, Julé, Amélie, Frelin, Léo, Cocquet, Julie, San Martin, Camino Ruano, Jacques, Sebastien, Busato, Florence, Tost, Jörg, Méhats, Céline, Laissue, Paul, Vilotte, Jean-Luc, Miralles, Francisco, Vaiman, Daniel, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institute of Chemistry and Biology of Membranes and Nano-objects (UMR 5248), Université Paris-Saclay, Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Département de Pédiatrie, Gynécologie & Obstétrique [Genève, Switzerland] (UNIGE), Université de Genève (UNIGE), Institut de Génomique d'Evry (IG), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Laboratoire d'Epigénétique et d'Environnement [Evry] (CNG - CEA), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de Genotypage-Institut de Génomique [Evry], Division of Reproductive Biology, Stanford University [Stanford], Center For Research in Genetics and Genomics-CIGGUR [Bogotá, Colombia] (GENIUROS Research Group), and School of Medicine and Health Sciences [Bogotá, Colombia]-Universidad del Rosario [Bogotá, Colombia]
Subjects: embryonic structures, [SDV.BDD]Life Sciences [q-bio]/Development Biology
Abstract: International audience; STOX1 is a transcription factor involved in preeclampsia and Alzheimer disease. We show that the knock-down of the gene induces rather mild effect on gene expression in trophoblast cell lines (BeWo). We identified binding sites of STOX1 shared by the two major isoforms, STOX1A and STOX1B. Profiling gene expression of cells overexpressing either STOX1A or STOX1B, we identified genes downregulated by both isoforms, with a STOX1 binding site in their promoters. Among those, STOX1-induced Annexin A1 downregulation led to abolished membrane repair in BeWo cells. By contrast, overexpression of STOX1A or B has opposite effects on trophoblast fusion (acceleration and inhibition, respectively) accompanied by syncytin genes deregulation. Also, STOX1A overexpression led to abnormal regulation of oxidative and nitrosative stress. In sum, our work shows that STOX1 isoform imbalance is a cause of gene expression deregulation in the trophoblast, possibly leading to placental dysfunction and preeclampsia.
Published: 2020
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12. Sperm SPACA6 protein is required for mammalian Sperm-Egg Adhesion/Fusion

Author: Barbaux, Sandrine, Ialy-Radio, Côme, Chalbi, Myriam, Dybal, Elisa, Homps-Legrand, Méline, Do Cruzeiro, Marcio, Vaiman, Daniel, Wolf, Jean-Philippe, Ziyyat, Ahmed, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This work was supported by the Institut National de la Santé et de la Recherche Médicale (INSERM), the Centre National de la Recherche Scientifique (CNRS), the Université Paris Descartes and the ‘Agence Nationale pour la Recherche’ (Grant DYNAGAME no. ANR-13-BVS5-0004 to AZ and JPW)., ANR-13-BSV5-0004,DYNAGAME,Dynamique membranaire et liens moléculaires dans l'interaction gamétique(2013), Bodescot, Myriam, Blanc 2013 - Dynamique membranaire et liens moléculaires dans l'interaction gamétique - - DYNAGAME2013 - ANR-13-BSV5-0004 - Blanc 2013 - VALID, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)
Subjects: Male, Immunoglobulins, lcsh:Medicine, Mice, Inbred Strains, Mice, Transgenic, Fertilization in Vitro, [SDV.BC.IC] Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Article, Medical research, Developmental biology, Chlorocebus aethiops, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Animals, Humans, Sperm Injections, Intracytoplasmic, lcsh:Science, Infertility, Male, Mice, Knockout, Sperm-Ovum Interactions, Acrosome Reaction, lcsh:R, Seminal Plasma Proteins, Membrane Proteins, [SDV.BBM.MN]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular Networks [q-bio.MN], Spermatozoa, Mice, Inbred C57BL, [SDV.BBM.MN] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular Networks [q-bio.MN], COS Cells, Sperm Head, Female, lcsh:Q
Abstract: International audience; Three genes are known to be essential for gamete adhesion/fusion (Cd9, Izumo1 and Juno). Here, we confirmed that Spaca6 null males are infertile and showed that their sperm accumulate in the perivitelline space but are unable to fuse with oocyte. Like IZUMO1, SPACA6 which is expressed by human sperm, is remained on the equatorial segment after acrosomal reaction and is involved in human fertilization since an anti-SPACA6 antibody inhibited it. Despite the similarity of the phenotypes caused by Spaca6 and Izumo1 knockouts, these are not redundant and the essential relocation of IZUMO1 is not affected by the lack of SPACA6. We propose a model in which IZUMO1 and SPACA6 would be part of a molecular complex necessary for gamete fusion and that their concomitant presence would be required for the recruitment of another essential molecular actor, such as a fusogen, for the fusion to take place.
Published: 2020
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13. Protein kinase CK2 contributes to placental development: physiological and pathological implications

Author: Nicolas Lemaitre, Claude Cochet, Daniel Vaiman, Déborah Reynaud, Odile Filhol, Mohamed Benharouga, Nadia Alfaidy, Roland Abi Nahed, Solene Lartigue, Caroline Roelants, Invasion mechanisms in angiogenesis and cancer (IMAC), Biologie du Cancer et de l'Infection (BCI ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Inovarion, Inovarion [Paris], Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biologie des Métaux (BioMet), Laboratoire de Chimie et Biologie des Métaux (LCBM - UMR 5249), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA), Biologie des Métaux (BioMet ), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), and Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Adult, Invasion de trophoblastes, Modèle animal, Prééclampsie, Adolescent, Protein subunit, Placenta, Biology, Preeclampsia, Andrology, Mice, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Pre-Eclampsia, Pregnancy, In vivo, Cell Line, Tumor, Drug Discovery, medicine, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Animals, Humans, Casein Kinase II, Genetics (clinical), reproductive and urinary physiology, Trophoblast, medicine.disease, Molecular medicine, Placentation, In vitro, Trophoblasts, Mice, Inbred C57BL, Disease Models, Animal, Pregnancy Trimester, First, Protéine kinase CK2, medicine.anatomical_structure, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, embryonic structures, Molecular Medicine, Female, Ex vivo, 030215 immunology
Abstract: International audience; Preeclampsia (PE) is the most threatening pathology of human pregnancy. Its development is thought to be due to a failure in the invasion of trophoblast cells that establish the feto-maternal circulation. Protein kinase CK2 is a ubiquitous enzyme reported to be involved in the control of cell invasion. CK2 consists of two subunits, a catalytic subunit, CK2α, and a regulatory subunit, CK2β. To date, no data exist regarding the expression and role of this enzyme in normal and PE pregnancies. We performed studies, at the clinical level using distinctive cohorts from early pregnancy (n = 24) and from PE (n = 23) and age-matched controls (n = 28); in vitro, using trophoblast cell lines; ex vivo, using placental explants; and in vivo, using PE mouse models. We demonstrated that (i) CK2 is more expressed during the late first trimester of pregnancy and is mainly localized in differentiated trophoblast cells, (ii) the inhibition of its enzymatic activity decreased the proliferation, migration, invasion, and syncytialization of trophoblast cells, both in 2D and 3D culture systems, and (iii) CK2 activity and the CK2α/CK2β protein ratio were increased in PE human placentas. The pattern and profile of CK2 expression were confirmed in gravid mice along with an increase in the PE mouse models. Altogether, our results demonstrate that CK2 plays an essential role in the establishment of the feto-maternal circulation and that its deregulation is associated with PE development. The increase in CK2 activity in PE might constitute a compensatory mechanism to ensure proper pregnancy progress.
Published: 2020
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14. The Role of Epigenetics in Placental Development and the Etiology of Preeclampsia

Author: Céline Méhats, Francisco Miralles, Daniel Vaiman, Clara Apicella, Camino S. M. Ruano, Department of Obstetrics and Gynecology [Stanford], Stanford Medicine, Stanford University-Stanford University, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génomique et épigénétique des pathologies placentaires (Inserm U709), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Division of Reproductive Biology, Stanford University [Stanford], and Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: 0301 basic medicine, [SDV]Life Sciences [q-bio], Disease, Review, Bioinformatics, Epigenesis, Genetic, miR-210, Histones, lcsh:Chemistry, 0302 clinical medicine, Pre-Eclampsia, Pregnancy, non coding RNAs, Gene expression, lcsh:QH301-705.5, Spectroscopy, ComputingMilieux_MISCELLANEOUS, DNA methylation, biology, histone post translational modifications, General Medicine, HOX genes, Computer Science Applications, Histone, 030220 oncology & carcinogenesis, miRNAs, Female, RNA, Long Noncoding, Catalysis, Preeclampsia, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, Inorganic Chemistry, preeclampsia, 03 medical and health sciences, microRNA, medicine, Humans, Epigenetics, Physical and Theoretical Chemistry, Molecular Biology, epigenetics, H19, Organic Chemistry, RNA, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, medicine.disease, Placentation, MicroRNAs, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, biology.protein, Protein Processing, Post-Translational
Abstract: In this review, we comprehensively present the function of epigenetic regulations in normal placental development as well as in a prominent disease of placental origin, preeclampsia (PE). We describe current progress concerning the impact of DNA methylation, non-coding RNA (with a special emphasis on long non-coding RNA (lncRNA) and microRNA (miRNA)) and more marginally histone post-translational modifications, in the processes leading to normal and abnormal placental function. We also explore the potential use of epigenetic marks circulating in the maternal blood flow as putative biomarkers able to prognosticate the onset of PE, as well as classifying it according to its severity. The correlation between epigenetic marks and impacts on gene expression is systematically evaluated for the different epigenetic marks analyzed.
Published: 2019
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15. Mutated Kif1c mouse mimicking bovine progressive ataxia: a new animal model for hereditary spastic paraplegia type 58 ?

Author: Duchesne, Amandine, Vaiman, Anne, Castille, Johan, Passet, Bruno, Hélary, Louise, Beauvallet, Christian, Brice, Alexis, Stevanin, Giovanni, Vilotte, Jean Luc, El Hachimi, Khalid Hamid, Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Université Paris Saclay (COmUE), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Tom Wahlig Foundation. DDR., and ProdInra, Migration
Subjects: [SDV] Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, [SDV]Life Sciences [q-bio], [SDV.GEN] Life Sciences [q-bio]/Genetics, [SDV.GEN.GA] Life Sciences [q-bio]/Genetics/Animal genetics, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2019

16. A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21

Author: Luisa Dandolo, Laila El Khattabi, Hélène Jammes, Amélie Pinard, Daniel Vaiman, Marie-Noëlle Dieudonné, Sandrine Barbaux, Vassilis Tsatsaris, Stéphanie Backer, Evelyne Bloch-Gallego, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), McGoven Medical School at the University of Texas Science Center, Partenaires INRAE, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Maternité Cochin-Port Royal, Biologie du Développement et Reproduction (BDR), École nationale vétérinaire - Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), ProdInra, Migration, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), and École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)
Subjects: Chromosomes, Human, Pair 21, Placenta, [SDV]Life Sciences [q-bio], Biology, [INFO] Computer Science [cs], Article, 03 medical and health sciences, DSCAM, Genomic Imprinting, Mice, Pregnancy, Chlorocebus aethiops, Genetics, medicine, Human Umbilical Vein Endothelial Cells, Animals, Humans, [INFO]Computer Science [cs], Imprinting (psychology), Gene, Genetics (clinical), reproductive and urinary physiology, Cells, Cultured, 0303 health sciences, 030305 genetics & heredity, Intron, DNA Methylation, Cell biology, Mice, Inbred C57BL, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, DNA methylation, COS Cells, embryonic structures, Female, Chromosome 21, Genomic imprinting, Cell Adhesion Molecules
Abstract: Notice à reprendre en chantier qualité avec la version finale de l’Editeur; International audience; We identified, through a genome-wide search for new imprinted genes in the human placenta, DSCAM (Down Syndrome Cellular Adhesion Molecule) as a paternally expressed imprinted gene. Our work revealed the presence of a Differentially Methylated Region (DMR), located within intron 1 that might regulate the imprinting in the region. This DMR showed a maternal allele methylation, compatible with its paternal expression. We showed that DSCAM is present in endothelial cells and the syncytiotrophoblast layer of the human placenta. In mouse, Dscam expression is biallelic in foetal brain and placenta excluding any possible imprinting in these tissues. This gene encodes a cellular adhesion molecule mainly known for its role in neurone development but its function in the placenta remains unclear. We report here the first imprinted gene located on human chromosome 21 with potential clinical implications.
Published: 2019
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17. Survey of allele specific expression in bovine muscle

Author: Guillocheau, Gabriel, El Hou, Abdelmajid, Meerssemann, Cédric, Esquerré, Diane, Rebours, Emmanuelle, Letaief, Rabia, Simao, Morgane, Hypolite, Nicolas, Bourneuf, Emmanuelle, Bruneau, Nicolas, Vaiman, Anne, Vander Jagt, Christy, Chamberlain, Amanda, Rocha, Dominique, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Université de Limoges (UNILIM), Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, DRF/IRCM/SREIT/LREG, Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Agriculture Victoria Research, Agence Nationale de la Recherche ANR-05-GANI-005 ANR-05-GANI-017-01 / APIS-GENE 01-2005-QualviGenA-02 / French National Research Agency (Regulomix project) ANR-09-GENM-011, Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-École nationale supérieure agronomique de Toulouse (ENSAT), and Université de Toulouse (UT)-Université de Toulouse (UT)
Subjects: aldehyde oxidase, rna-seq, microrna expression, binding-site, gene, differentiation, identification, polymorphism, transcriptome, deficiency, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], animal structures, Genotype, Quantitative Trait Loci, lcsh:Medicine, Allelic Imbalance, Polymorphism, Single Nucleotide, Article, Animals, Muscle, Skeletal, lcsh:Science, 3' Untranslated Regions, Alleles, lcsh:R, Phenotype, Cattle, lcsh:Q, Autre (Sciences du Vivant), Genome-Wide Association Study
Abstract: International audience; Allelic imbalance is a common phenomenon in mammals that plays an important role in gene regulation. An Allele Specific Expression (ASE) approach can be used to detect variants with a cis-regulatory effect on gene expression. In cattle, this type of study has only been done once in Holstein. In our study we performed a genome-wide analysis of ASE in 19 Limousine muscle samples. We identified 5,658 ASE SNPs (Single Nucleotide Polymorphisms showing allele specific expression) in 13% of genes with detectable expression in the Longissimus thoraci muscle. Interestingly we found allelic imbalance in AOX1, PALLD and CAST genes. We also found 2,107 ASE SNPs located within genomic regions associated with meat or carcass traits. In order to identify causative cis-regulatory variants explaining ASE we searched for SNPs altering binding sites of transcription factors or microRNAs. We identified one SNP in the 3'UTR region of PRNP that could be a causal regulatory variant modifying binding sites of several miRNAs. We showed that ASE is frequent within our muscle samples. Our data could be used to elucidate the molecular mechanisms underlying gene expression imbalance.
Published: 2019
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18. dnajc2 is required for mouse early embryonic development

Author: Johan Castille, Véronique Blanquet, Jean-Luc Vilotte, Martine Letheule, Christian Beauvallet, Anne Vaiman, Fabienne Baraige, Mathieu Charles, Katayoun Moazami-Goudarzi, Amandine Duchesne, Florence Jaffrézic, Louise Helary, Johann Laubier, Mayssa Tamzini, Bruno Passet, Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Génomique AniMale, Amélioration, Adaptation (GAMAA), Institut National de la Recherche Agronomique (INRA)-PEIRENE (PEIRENE), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Université Paris Saclay (COmUE), Université de Limoges (UNILIM), Biologie du Développement et Reproduction (BDR), and École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)
Subjects: 0301 basic medicine, Small interfering RNA, Cellular differentiation, [SDV]Life Sciences [q-bio], Biophysics, Regulator, Embryonic Development, knockout, Biology, Biochemistry, 03 medical and health sciences, Mice, 0302 clinical medicine, Pregnancy, early embryo, CRISPR, Animals, [INFO]Computer Science [cs], Embryo Implantation, dnajc2, Molecular Biology, Gene, development, mouse, [SDV.GEN]Life Sciences [q-bio]/Genetics, Embryogenesis, Gene Expression Regulation, Developmental, RNA-Binding Proteins, Embryo, Cell Biology, Embryo, Mammalian, Cell biology, Chromatin, DNA-Binding Proteins, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Embryo Loss, Female, CRISPR-Cas Systems, Gene Deletion, Molecular Chaperones
Abstract: International audience; DNAJC2 protein, also known as ZRF1 or MPP11, acts both as chaperone and as chromatin regulator. It is involved in stem cell differentiation and its expression is associated with various cancer malignancies. However, the role of Dnajc2 gene during mouse embryogenesis has not been assessed so far. To this aim, we invalidated Dnajc2 gene in FVB/Nj mice using the CrispR/Cas9 approach. We showed that this invalidation leads to the early post-implantation lethality of the nullizygous embryos. Furthermore, using siRNAs against Dnajc2 in mouse 1-cell embryos, we showed that maternal Dnajc2 mRNAs may allow for the early preimplantation development of these embryos. Altogether, these data demonstrate for the first time the requirement of DNAJC2 for early mouse embryogenesis.
Published: 2019
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19. The role of KIF1C in sustainable myelination in SPG58/SAX2

Author: El Hachimi, Khalid, Vaiman, Anne, Frah, Magali, Albaric, Olivier, Alexis Brice, Darios, Frederic, Vilotte, Jean-Luc, Stevanin, Giovanni, Boichard, Didier, Duchesne, Amandine, Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Université Paris Saclay (COmUE), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Curie [Paris], LUNAM Université [Nantes Angers Le Mans], and Japanese Society of Neuropathology. JPN.
Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2018

20. Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination

Author: Raphaël Guatteo, Diane Esquerre, Sabrina Legoueix-Rodriguez, Maud Bertaud, Anaïs Fleming, Julien Branchu, Christian Beauvallet, Romain Saintilan, Alexis Brice, Amandine Duchesne, Anne Vaiman, Frédéric Darios, Anne Desmazières, Giovanni Stevanin, Sandrine Floriot, Magali Frah, Olivier Albaric, Eric Venot, Khalid Hamid El Hachimi, Sébastien Fritz, Jean-Luc Vilotte, Didier Boichard, Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Université Paris Saclay (COmUE), Sorbonne Universités (COMUE), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Toulouse White Biotechnology (TWB), Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Recherche Agronomique (INRA), Université Fédérale Toulouse Midi-Pyrénées, Allice, Ecole Nationale Vétérinaire, Agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Biologie, Epidémiologie et analyse de risque en Santé Animale (BIOEPAR), Institut National de la Recherche Agronomique (INRA), Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), INRA Animal Genetics Department, ApisGene, French National Research Agency [ANR14_CE 19-0011, ANR-13-ISV1-00002], 'Investissements d’avenir' programme [ANR-10-IAIHU-06, ANR11-INBS-0011], Verum Foundation, Fondation GIS-Maladies Rares, Fondation Roger de Spoelberch, Seventh Framework Programme - FP7 (Omics), ERare programme (Neurolipid), Duchesne, Amandine, El Hachimi, Khalid Hamid, Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Recherche Agronomique (INRA)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Université Fédérale Toulouse Midi-Pyrénées-Institut National des Sciences Appliquées (INSA)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Institut National de la Recherche Agronomique (INRA)-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-École nationale supérieure agronomique de Toulouse [ENSAT], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ProdInra, Migration, Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-École nationale supérieure agronomique de Toulouse (ENSAT), Université de Toulouse (UT)-Université de Toulouse (UT), École Pratique des Hautes Études (EPHE), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Central Nervous System, Male, 0301 basic medicine, Cancer Research, bovin, [SDV.BA] Life Sciences [q-bio]/Animal biology, Cell Membranes, Kinesins, gène kif1c, Immunostaining, medicine.disease_cause, Nervous System, Myelin, 0302 clinical medicine, Medicine and Health Sciences, Missense mutation, Myelin Sheath, Genetics (clinical), Spinocerebellar Degenerations, Mammals, Staining, Animal biology, 2. Zero hunger, Genetics, Mutation, Movement Disorders, biology, [SDV.BA]Life Sciences [q-bio]/Animal biology, Homozygote, Eukaryota, Neurodegenerative Diseases, Ruminants, anomalie génétique, ataxie progressive, démyélinisation, medicine.anatomical_structure, Neurology, Veterinary Diseases, Spinal Cord, Muscle Spasticity, Vertebrates, Female, Anatomy, Cellular Structures and Organelles, medicine.symptom, Research Article, Heterozygote, Ataxia, lcsh:QH426-470, biology.animal_breed, Mutation, Missense, Cattle Diseases, Single-nucleotide polymorphism, Research and Analysis Methods, Polymorphism, Single Nucleotide, 03 medical and health sciences, Bovines, Intellectual Disability, Biologie animale, medicine, Animals, Spinocerebellar Ataxias, Amino Acid Sequence, Allele, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Whole Genome Sequencing, Spastic Paraplegia, Hereditary, Genetic heterogeneity, Organisms, Biology and Life Sciences, Membrane Proteins, Cell Biology, Neuroanatomy, Disease Models, Animal, Optic Atrophy, lcsh:Genetics, 030104 developmental biology, Specimen Preparation and Treatment, Amniotes, Cattle, Veterinary Science, 030217 neurology & neurosurgery, Charolais cattle, Neuroscience
Abstract: Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous human neurodegenerative diseases. Amongst the identified genetic causes, mutations in genes encoding motor proteins such as kinesins have been involved in various HSP clinical isoforms. Mutations in KIF1C are responsible for autosomal recessive spastic paraplegia type 58 (SPG58) and spastic ataxia 2 (SPAX2). Bovines also develop neurodegenerative diseases, some of them having a genetic aetiology. Bovine progressive ataxia was first described in the Charolais breed in the early 1970s in England and further cases in this breed were subsequently reported worldwide. We can now report that progressive ataxia of Charolais cattle results from a homozygous single nucleotide polymorphism in the coding region of the KIF1C gene. In this study, we show that the mutation at the heterozygous state is associated with a better score for muscular development, explaining its balancing selection for several decades, and the resulting high frequency (13%) of the allele in the French Charolais breed. We demonstrate that the KIF1C bovine mutation leads to a functional knock-out, therefore mimicking mutations in humans affected by SPG58/SPAX2. The functional consequences of KIF1C loss of function in cattle were also histologically reevaluated. We showed by an immunochemistry approach that demyelinating plaques were due to altered oligodendrocyte membrane protrusion, and we highlight an abnormal accumulation of actin in the core of demyelinating plaques, which is normally concentrated at the leading edge of oligodendrocytes during axon wrapping. We also observed that the lesions were associated with abnormal extension of paranodal sections. Moreover, this model highlights the role of KIF1C protein in preserving the structural integrity and function of myelin, since the clinical signs and lesions arise in young-adult Charolais cattle. Finally, this model provides useful information for SPG58/SPAX2 disease and other demyelinating lesions., Author summary Hereditary spastic paraplegias (HSPs) are human neurodegenerative diseases mainly associated with lower extremity weakness and spasticity. Motor-sensory axons degeneration, implying heterogeneous cellular and molecular mechanisms and various genetic causes, is the neuropathological hallmark of this disease. Recently, mutations in KIF1C were associated with human spastic paraplegia type 58 (SPG58) and spastic ataxia 2 (SPAX2), where the radiological brain examination showed demyelination features. We report herein that progressive ataxia of Charolais cattle, a neurodegenerative disease with autosomal recessive inheritance, is caused by a substitution in the KIF1C gene, which leads to a functional knock-out. Interestingly this mutation is associated, in a heterozygous state, with a better muscular development, and thus a zootechnic advantage. Identification of the mutation will therefore be helpful to eradicate this disease. Further study of the lesions in ataxic bovine central nervous system highlighted a peculiar link to oligodendrocytes which were hypertrophied and harbored many membrane protrusions. The demyelinating plaques were enriched by these membranes and actin accumulation indicating close relationship between KIF1C, actin transport and axonal wrapping by oligodendrocyte tongues. Since kif1c knock-out mouse do not display any neurological symptoms, progressive ataxia of Charolais cattle thus provides a useful model for studying SPG58/SPAX2 and other demyelinating diseases.
Published: 2018
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21. Alpha-1 microglobulin as a potential therapeutic candidate for the treatment of high blood pressure and oxidative stress in the stox1 preeclampsia-model

Author: Stefan R. Hansson, Jean-Luc Vilotte, Johann Castille, Lena Erlandsson, Aurélien Ducat, Daniel Vaiman, Ludivine Doridot, Department of Clinical Sciences, Lund University [Lund], Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique Animale et Biologie Intégrative (GABI), and Institut National de la Recherche Agronomique (INRA)-AgroParisTech
Subjects: 0303 health sciences, medicine.medical_specialty, [SDV.GEN]Life Sciences [q-bio]/Genetics, 030219 obstetrics & reproductive medicine, business.industry, [SDV]Life Sciences [q-bio], Obstetrics and Gynecology, medicine.disease_cause, medicine.disease, 3. Good health, Preeclampsia, 03 medical and health sciences, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, 0302 clinical medicine, Endocrinology, Blood pressure, Reproductive Medicine, Internal medicine, Medicine, business, Alpha-1-microglobulin, Oxidative stress, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Developmental Biology
Abstract: International audience
Published: 2017
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22. SLY regulates genes involved in chromatin remodeling and interacts with TBL1XR1 during sperm differentiation

Author: Moretti, Charlotte, Serrentino, Maria-Elisabetta, Ialy-Radio, Côme, Delessard, Marion, Soboleva, Tatiana, Torès, Frédéric, Leduc, Marjorie, Nitschke, Patrick, Drevet, Joël, Tremethick, David, Vaiman, Daniel, Kocer, Ayhan, Cocquet, Julie, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), [Institut Cochin] Département Développement, Reproduction et Cancer (DRC), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Sorbonne Paris Cité (USPC), Plate Forme Paris Descartes de Bioinformatique (BIP-D), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Génétique, Reproduction et Développement - Clermont Auvergne (GReD), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS), Genome Biology Department, Australian National University (ANU)-The John Curtin School of Medical Research, Biologie du Développement et Reproduction (BDR), Institut National de la Recherche Agronomique (INRA), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique, Reproduction et Développement (GReD), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS)
Subjects: [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, ComputingMilieux_MISCELLANEOUS, [SDV.BDD.GAM]Life Sciences [q-bio]/Development Biology/Gametogenesis, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction
Abstract: International audience
Published: 2017
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23. Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health

Author: Duchesne, Amandine, Vaiman, Anne, Castille, Johan, Beauvallet, Christian, Gaignard, Pauline, Floriot, Sandrine, Rodriguez, Sabrina, Vilotte, Marthe, Boulanger, Laurent, Passet, Bruno, Albaric, Olivier, Guillaume, François, Boukadiri, Abdelhak, Richard, Laurence, Bertaud, Maud, Timsit, Edouard, Guatteo, Raphaël, Jaffrézic, Florence, Calvel, Pierre, Helary, Louise, Mahla, Rachid, Esquerré, Diane, Péchoux, Christine, Liuu, Sophie, Vallat, Jean-Michel, Boichard, Didier, Slama, Abdelhamid, Vilotte, Jean-Luc, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Toulouse White Biotechnology (TWB), Centre National de la Recherche Scientifique (CNRS)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Recherche Agronomique (INRA), Biologie du Développement et Reproduction (BDR), École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Ecole Nationale Vétérinaire, Agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Centre de référence national neuropathies périphériques rares [CHU Limoges], CHU Limoges, University of Calgary, Biologie, Epidémiologie et analyse de risque en Santé Animale (BIOEPAR), Institut National de la Recherche Agronomique (INRA), Laboratoire d'Analyse Génétique pour les Espèces Animales (LABOGENA), Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, MICrobiologie de l'ALImentation au Service de la Santé (MICALIS), ANR APIS-GENE Bovano ANR-14-CE19-0011, Institut National de la Recherche Agronomique (INRA)-Institut National des Sciences Appliquées - Toulouse (INSA Toulouse), Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Institut National des Sciences Appliquées (INSA)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), École nationale vétérinaire - Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Institut National de la Recherche Agronomique (INRA)-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-École nationale supérieure agronomique de Toulouse (ENSAT), Université de Toulouse (UT)-Université de Toulouse (UT), Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre, Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS), Biologie du développement et reproduction (BDR), École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-École nationale supérieure agronomique de Toulouse [ENSAT]
Subjects: Proteomics, bovin, Protein Extraction, [SDV]Life Sciences [q-bio], Artificial Gene Amplification and Extension, souris, Biochemistry, Polymerase Chain Reaction, Mitochondrial Dynamics, Phosphate Transport Proteins, Energy-Producing Organelles, Protein Metabolism, Mammals, Extraction Techniques, Animal Models, Ruminants, Mitochondrial DNA, Mitochondria, Nucleic acids, Phenotype, Experimental Organism Systems, Vertebrates, Cellular Structures and Organelles, anomalie veau tourneur, gène SLC25A46, Research Article, mice, lcsh:QH426-470, Forms of DNA, Mouse Models, Bioenergetics, Research and Analysis Methods, Mitochondrial Proteins, Polyneuropathies, Model Organisms, Bovines, Genetics, Animals, Humans, Molecular Biology Techniques, Molecular Biology, Organisms, Biology and Life Sciences, Cell Biology, DNA, lcsh:Genetics, Metabolism, Amino Acid Substitution, Amniotes, Mutation, Cattle, Mitochondrial Membrane, anomalie génétique
Abstract: Neuropathies are neurodegenerative diseases affecting humans and other mammals. Many genetic causes have been identified so far, including mutations of genes encoding proteins involved in mitochondrial dynamics. Recently, the “Turning calves syndrome”, a novel sensorimotor polyneuropathy was described in the French Rouge-des-Prés cattle breed. In the present study, we determined that this hereditary disease resulted from a single nucleotide substitution in SLC25A46, a gene encoding a protein of the mitochondrial carrier family. This mutation caused an apparent damaging amino-acid substitution. To better understand the function of this protein, we knocked out the Slc25a46 gene in a mouse model. This alteration affected not only the nervous system but also altered general metabolism, resulting in premature mortality. Based on optic microscopy examination, electron microscopy and on biochemical, metabolic and proteomic analyses, we showed that the Slc25a46 disruption caused a fusion/fission imbalance and an abnormal mitochondrial architecture that disturbed mitochondrial metabolism. These data extended the range of phenotypes associated with Slc25a46 dysfunction. Moreover, this Slc25a46 knock-out mouse model should be useful to further elucidate the role of SLC25A46 in mitochondrial dynamics., Author summary Mitochondria are essential organelles, the site of numerous biochemical reactions, with a critical role in delivering energy to cells, particularly in the nervous system. Consequently, disrupted mitochondrial function often results in neurodegenerative diseases, in humans and in other mammals. Herein, we determined that the “Turning calves syndrome”, a new hereditary sensorimotor polyneuropathy in the French Rouge-des-Prés cattle breed was due to a single substitution in SLC25A46, a gene encoding a protein of the mitochondrial carrier family. We created a mouse knock-out model and determined that disruption of this gene dramatically disturbed mitochondrial dynamics in various organs that resulted in altered metabolism and early death, indirectly confirming the gene identification in cattle. Moreover, our novel findings extended the range of phenotypes associated with polymorphisms of this gene and help to elucidate the role of SLC25A46 in mitochondrial function.
Published: 2017
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24. Expression and epigenomic landscape of the sex chromosomes in mouse post-meiotic male germ cells

Author: Charlotte Moretti, Daniel Vaiman, Frédéric Tores, Julie Cocquet, Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Plateforme de génomique [SFR Necker], Structure Fédérative de Recherche Necker ( SFR Necker - UMS 3633 / US24 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), This work was supported by Inserm (Institut National de la Sante et de la Recherche Medicale), Cnrs (Centre National de la Recherche Scientifique), Université Paris Descartes, the Agence Nationale de la Recherche program ANR-12–JSV2-0005–01 (to J.C.) and a Marie Curie fellowship FP7-PEOPLE-2010-IEF-273143 (to J.C.). The funding bodies did not have any role in the design of the study, the collection, analysis, and interpretation of data nor in the writing of the manuscript., Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), BMC, BMC, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Epigenomics, Male, 0301 basic medicine, X Chromosome, Mouse, [SDV]Life Sciences [q-bio], Spermiogenesis, Biology, Crotonylation, Y chromosome, Genome, H3K9me3, Histones, Mice, 03 medical and health sciences, Meiosis, Y Chromosome, Genetics, Animals, Spermatogenesis, Molecular Biology, Autosome, MSCI, [ SDV ] Life Sciences [q-bio], Sequence Analysis, RNA, Research, High-Throughput Nucleotide Sequencing, Chromosome, Sex chromosomes, H3K4me3, H3K27ac, Chromosome 14, Spermatids, Chromatin, [SDV] Life Sciences [q-bio], Germ Cells, 030104 developmental biology, Microscopy, Fluorescence, Post-meiotic sex chromatin
Abstract: Background During meiosis, the X and Y chromosomes are transcriptionally silenced. The persistence of repressive chromatin marks on the sex chromatin after meiosis initially led to the assumption that XY gene silencing persists to some extent in spermatids. Considering the many reports of XY-linked genes expressed and needed in the post-meiotic phase of mouse spermatogenesis, it is still unclear whether or not the mouse sex chromatin is a repressive or permissive environment, after meiosis. Results To determine the transcriptional and chromatin state of the sex chromosomes after meiosis, we re-analyzed ten ChIP-Seq datasets performed on mouse round spermatids and four RNA-seq datasets from male germ cells purified at different stages of spermatogenesis. For this, we used the last version of the genome (mm10/GRCm38) and included reads that map to several genomic locations in order to properly interpret the high proportion of sex chromosome-encoded multicopy genes. Our study shows that coverage of active epigenetic marks H3K4me3 and Kcr is similar on the sex chromosomes and on autosomes. The post-meiotic sex chromatin nevertheless differs from autosomal chromatin in its enrichment in H3K9me3 and its depletion in H3K27me3 and H4 acetylation. We also identified a posttranslational modification, H3K27ac, which specifically accumulates on the Y chromosome. In parallel, we found that the X and Y chromosomes are enriched in genes expressed post-meiotically and display a higher proportion of spermatid-specific genes compared to autosomes. Finally, we observed that portions of chromosome 14 and of the sex chromosomes share specific features, such as enrichment in H3K9me3 and the presence of multicopy genes that are specifically expressed in round spermatids, suggesting that parts of chromosome 14 are under the same evolutionary constraints than the sex chromosomes. Conclusions Based on our expression and epigenomic studies, we conclude that, after meiosis, the mouse sex chromosomes are no longer silenced but are nevertheless regulated differently than autosomes and accumulate different chromatin marks. We propose that post-meiotic selective constraints are at the basis of the enrichment of spermatid-specific genes and of the peculiar chromatin composition of the sex chromosomes and of parts of chromosome 14. Electronic supplementary material The online version of this article (doi:10.1186/s13072-016-0099-8) contains supplementary material, which is available to authorized users.
Published: 2016
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25. Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia

Author: Jean Luc Vilotte, Aurélien Ducat, Francisco Miralles, Sébastien Jacques, Sandrine Barbaux, Paul Laissue, Ludivine Doridot, Céline Méhats, Franck Letourneur, Rosamaria Calicchio, Daniel Vaiman, Christophe Buffat, Betty Couderc, Johann Castille, Fabien Le Grand, ProdInra, Migration, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Sorbonne Paris Cité (USPC), PRES Sorbonne Paris Cité, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Assistance Publique - Hôpitaux de Marseille (APHM), and Universidad del Rosario
Subjects: 0301 basic medicine, Mouse, Carrier proteins, Endothelial cells, [SDV]Life Sciences [q-bio], Carrier protein, 030204 cardiovascular system & hematology, Gene regulatory networks, Protein interaction maps, Mice, 0302 clinical medicine, Pre-Eclampsia, Pregnancy, Protein Interaction Mapping, Pathology, Cluster Analysis, Protein analysis, Gene Regulatory Networks, animal, Protein Interaction Maps, Endothelial dysfunction, Gene expression regulation, Multidisciplinary, Stox1 protein, Gene regulatory network, Gene expression profiling, 3. Good health, Endothelial stem cell, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, embryonic structures, Female, Protein interaction mapping, medicine.symptom, Protein Binding, Genetically modified mouse, medicine.medical_specialty, Endothelium, Transgene, Context (language use), Inflammation, Mice, Transgenic, Cardiomegaly, Biology, Disease models, Article, Preeclampsia, Cell Line, 03 medical and health sciences, Cluster analysis, Transgenic mouse, Internal medicine, medicine, Genetics, Protein binding, Animals, Humans, human, Mortality, transgenic, Disease model, Gene Expression Profiling, Endothelial Cells, medicine.disease, Disease Models, Animal, 030104 developmental biology, Endocrinology, Metabolism, Gene Expression Regulation, Immunology, Protein protein interaction, Carrier Proteins, Transcriptome, Cell line, Pre-eclampsia, Endothelium cell
Abstract: Preeclampsia is a disease of pregnancy involving systemic endothelial dysfunction. However, cardiovascular consequences of preeclampsia are difficult to analyze in humans. The objective of the present study is to evaluate the cardiovascular dysfunction induced by preeclampsia by examining the endothelium of mice suffering of severe preeclampsia induced by STOX1 overexpression. Using Next Generation Sequencing on endothelial cells of mice carrying either transgenic or control embryos, we discovered significant alterations of gene networks involved in inflammation, cell cycle and cardiac hypertrophy. In addition, the heart of the preeclamptic mice revealed cardiac hypertrophy associated with histological anomalies. Bioinformatics comparison of the networks of modified genes in the endothelial cells of the preeclamptic mice and HUVECs exposed to plasma from preeclamptic women identified striking similarities. The cardiovascular alterations in the pregnant mice are comparable to those endured by the cardiovascular system of preeclamptic women. The STOX1 mice could help to better understand the endothelial dysfunction in the context of preeclampsia and guide the search for efficient therapies able to protect the maternal endothelium during the disease and its aftermath.
Published: 2016
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26. FOXL2 is a new progesterone-regulated gene in the endometrium

Author: Lesage Padilla, Audrey, Eozenou, Caroline, Healey, Gareth, Shimizu, Takashi, Oudin, Jean-Francois, Vaiman, Daniel, Myamoto, Akio, Sheldon, Martin, Reinaud, Pierrette, Charpigny, Gilles, Pannetier, Maëlle, Sandra, Olivier, Biologie du Développement et Reproduction (BDR), École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Swansea University, Obihiro University of Agriculture and Veterinary Medicine, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-08-GENM-037, INRA PHASE division and MESR, Université de Haute Bretagne ( Rennes 2 ) (UR 2). Rennes, FRA., and ProdInra, Migration
Subjects: [SDV.BDD] Life Sciences [q-bio]/Development Biology, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, [SDV.BDD]Life Sciences [q-bio]/Development Biology, [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology
Abstract: National audience; In mammals, mutual actions of estrogens and progesterone on their uterine receptors are essential for endometrium receptivity and conceptus implantation. In cattle we showed that FOXL2 -a key gene for ovarian differentiation and maintenance- is expressed and regulated in endometrium during oestrous cycle, a finding confirmed in murine and human endometrium. The present study aims to determine if FOXL2 is a progesterone-target gene in the bovine endometrium. Using various experimenta models in cattle, our results indicated (i) a negative correlation between FOXL2 gene expression and progesterone (P4) blood levels (ii) a significant reduction of FOXL2 transcript level in ovariectomized cows supplemented with P4 for 6 days (2.2-fold vs. control ovariectomized cows, P < 0.05) (iii) a significant decrease in FOXL2 mRNA level in bovine endometrial explants incubated with P4 (10-5 M) for 48h (2.4-fold vs. control explants, P < 0.05). No impact of oestradiol on FOXL2 gene expression was detected in these conditions. In order to confirm the regulation of FOXL2 promoter by P4, COS7 cells were transfected with a caprine FOXL2 reporter gene and progesterone receptor (PR) A or B expression vectors. In the presence of PRA and PRB, P4 (10-7 M) stimulated the activity of FOXL2 promoter (2.8-fold). Mutation of the P4 Response Element (PRE) in the caprine FOXL2 promoter abrogated the activity of this promoter in P4-treated COS7 cells overexpressing PRA/PRB. Collectively, our data show that reduced FOXL2 expression in the endometrium during the luteal phase results from the down-regulation of PRA/B known to occur in the presence of P4. Determining the biological actions of FOXL2 will be mandatory to define the contribution of this transcription factor in the regulation of sensor and driver properties of the endometrium.
Published: 2015

27. A Common Genetic Variant in the Insulin Receptor Gene Is Associated with Eating Difficulties at 2 Years of Age in a Cohort of Preterm Infants

Author: Valérie Amarger, Blandine de Lauzon-Guillain, Thomas Moyon, Audrey Bouvagnet, Dominique Darmaun, Cyril Flamant, Julie Robitaille, Daniel Vaiman, Patricia Parnet, Jean-Christophe Rozé, Physiologie des Adaptations Nutritionnelles (PhAN), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN), Institut des Maladies de l'Appareil Digestif, Université de Nantes (UN), Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Sorbonne Paris Cité (COMUE) (USPC), and Université Laval [Québec] (ULaval)
Subjects: Male, 030309 nutrition & dietetics, [SDV]Life Sciences [q-bio], Medicine (miscellaneous), 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Affect (psychology), Bioinformatics, Polymorphism, Single Nucleotide, Cohort Studies, Feeding and Eating Disorders, 03 medical and health sciences, 0302 clinical medicine, Antigens, CD, Genetics, Humans, Medicine, Genetic Association Studies, 2. Zero hunger, 0303 health sciences, biology, business.industry, fungi, Insulin Receptor Gene, Age Factors, Infant, Newborn, Genetic variants, Infant, food and beverages, Receptor, Insulin, Insulin receptor, Child, Preschool, Cohort, biology.protein, Eating behavior, Female, France, business, Infant, Premature, Food Science
Abstract: Background/Aims: Children born preterm are more likely than full-term infants to develop eating difficulties that can affect their growth. Although this behavior is certainly influenced by their fetal and postnatal history, a large individual variability exists that results from a complex interaction between genetic and environmental factors. We performed an original pilot study to identify common genetic variants associated with eating difficulties at 2 years of age in the POLYNUCA cohort of preterm infants. Methods: Eating behavior was assessed using a parental questionnaire in a cohort of 234 very preterm infants (including 38 pairs of twins). Eighty-two common single nucleotide polymorphisms (SNPs) were selected in a total of 40 candidate genes involved in the regulation of energy homeostasis and food intake. Results: Eating behavior was strongly correlated in monozygotic (r = 0.92, p = 0.001) but not dizygotic twins (r = 0.27, p = 0.14), suggesting a strong heritability of this trait. One SNP (rs11671975) in the insulin receptor (INSR) gene was significantly associated with eating behavior. This effect was maintained after adjustment for birth weight Z score and maternal education level, two factors that are associated with eating difficulties at 2 years of age. Conclusion: The INSR gene is potentially associated with eating difficulties in preterm infants.
Published: 2015
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28. Putative RNA interference by early miRNA expression in mouse eggs activated in two standard culture media

Author: Barrey, Eric, Banrezes, Bernadette, Sainte-Beuve, Thierry, Vaiman, Anne, Ozil, Jean-Pierre, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Biologie du développement et reproduction (BDR), Centre National de la Recherche Scientifique (CNRS)-École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), World Mitochondria Society. INT., Max Planck Institute of Immunobiology and Epigenetics. DEU., and AgroParisTech-Institut National de la Recherche Agronomique (INRA)
Subjects: [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, [SDV]Life Sciences [q-bio], [INFO]Computer Science [cs], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2014

29. Culture media modulates the regime of Ca2+ signaling, miRNA expression at fertilization and the post-natal growth in the mice

Author: Ozil, Jean-Pierre, Banrezes, Bernadette, Sainte-Beuve, Thierry, Vaiman, Anne, Berteaux, Lionel, Barrey, Eric, Biologie du Développement et Reproduction (BDR), Institut National de la Recherche Agronomique (INRA), Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Biologie du développement et reproduction (BDR), Centre National de la Recherche Scientifique (CNRS)-École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, and European Cooperation in Science and Technology (COST). BEL.
Subjects: mice, fertilization, mrna regulation, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, [SDV.BDD]Life Sciences [q-bio]/Development Biology
Abstract: Several reports have shown that incubation media used for in-vitro fertilization impacts adult phenotype. However, it is still difficult to identify the critical composition of the culture media that modulates the development. Here we develop a new method that makes it possible to establish functional linkage between the composition of the medium, the regime of Ca2+ signaling and mitochondrial activity during fertilization, the miRNA expression and the post- natal growth. Mouse eggs were fertilized by ICSI, incubated 4h in M16 or KSOM and transferred to recipients. With a specific algorithm, we used Ca2+ signaling following ICSI as a detector of changes of egg functioning. Pools of 30 eggs incubated in each condition were used to screen the miRNA expression 4h after ICSI. The results show that the females issued from egg cultured for 4 hours in KSOM are significantly smaller at the 8th week (-15%, p
Published: 2014

30. Genetic regulation of recurrent spontaneous abortion in humans

Author: Daniel Vaiman, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Bos, Mireille, Institut Cochin (UM3 (UMR 8104 / U1016)), and Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS)
Subjects: Candidate gene, Abortion, Habitual, media_common.quotation_subject, Fertility, Abortion, Biology, recurrent miscarriage, Pregnancy, Recurrent miscarriage, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Chromosomes, Human, Humans, Thrombophilia, genetics, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Abruptio Placentae, lcsh:QH301-705.5, media_common, Genetics, Fetus, lcsh:R5-920, Uterus, General Medicine, medicine.disease, Human genetics, 3. Good health, lcsh:Biology (General), Gestation, Cytokines, Female, lcsh:Medicine (General), infertility
Abstract: International audience; Recurrent pregnancy loss, defined as a pregnancy failure occurring before 24 weeks of gestation more than two or three times according to most definitions, is a fertility defect encountered in 1-5% of the patients. This defect is of course of multifactorial origin. Among the possible origins of recurrent pregnancy loss are uterine structural defaults, defective ploidy control of the embryo, defective immunological dialog between the embryo (or the fetus) and the uterus sometimes in relation with immunological disorders (such as autoimmune diseases), thrombophilia, and free radical metabolism imbalance. Numerous studies attempted to correlate variants of genes supposed to be intervening in the different facets of the early maternal-fetal or maternal-embryonic dialog, and eventually modify the outcome of fertilization, leading to success or failure of post-implantation development. The objective of the present review is to portray the major genes and gene polymorphisms studied for their putative association with recurrent pregnancy loss. Most of these genes have been studied as candidate genes for which strong biological arguments were put forward as to their putative involvement in recurrent pregnancy loss. They were mostly studied by genetic analysis, often in various populations of different ethnic origins, throughout the world. Some of these studies were available only in English as abstracts and were nevertheless used if the information was given with enough detail. With the space being too short to depict all the available literature, different major pathways releva nt to the scientific question are presented without any attempt to hide the fact that discordant views often aroused for a given gene.
Published: 2014

31. Early differential miRNA expression following in vitro fertilization of mouse eggs incubated in two standard culture media

Author: Barrey, Eric, Banrezes, Bernadette, Sainte-Beuve, Thierry, Vaiman, Anne, Ozil, Jean-Pierre, Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Unité de biologie intégrative des adaptations à l'exercice (UBIAE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biologie du Développement et Reproduction (BDR), Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Biologie du développement et reproduction (BDR), Centre National de la Recherche Scientifique (CNRS)-École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Federation of the European Biochemical Societies (FEBS). GBR., European Cooperation in Science and Technology (COST). BEL., and École nationale vétérinaire - Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS)
Subjects: mitochondria, rna interference, posttranscriptional regluation, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, [SDV.BDD]Life Sciences [q-bio]/Development Biology
Abstract: Événement(s) lié(s) : - EPICONCEPT Conference 2014: Epigenetics and Periconception Environnement; Vilamoura (PRT) - (2014-10-01 - 2014-10-03); absent
Published: 2014

32. Profiling of microRNAs coded by mitochondrion in different equine tissues

Author: Mach Casellas, Nuria, Mata, Xavier, beinat, Marine, Vaiman, Anne, Moroldo, Marco, Lecardonnel, Jerôme, Legendre, Rachel, Ruet, Alice, Kennedy, Sean, Schibler, Laurent, Barrey, Eric, Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Institut National de la Recherche Agronomique (INRA), US 1367 MetaGénoPolis, Institut National de la Recherche Agronomique (INRA)-Département Microbiologie et Chaîne Alimentaire (MICA), Institut National de la Recherche Agronomique (INRA)-MetaGénoPolis (MGP), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, MetaGenoPolis, and Institut National de la Recherche Agronomique (INRA)
Subjects: [SDV]Life Sciences [q-bio]
Abstract: absent
Published: 2014

33. A 12 000-rad whole-genome radiation hybrid panel in sheep: application to the study of the ovine chromosome 18 region containing a QTL for scrapie susceptibility

Author: Laurent, Pascal, Schibler, Laurent, Vaiman, Anne, Laubier, Johann, Delcros, Chantal, COSSEDDU, G.M., Vaiman, Daniel, CRIBIU, E.P., Yerle, Martine, Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA), Laboratoire de Génétique Cellulaire (LGC), Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées
Subjects: SCRAPIE SUSCEPTIBILITY, SHEEP, [SDV]Life Sciences [q-bio], BAC CONTIG, PANEL RH, RESISTANCE A LA TREMBLANTE, WHOLE GENOME RADIATION HYBRID PANEL
Abstract: Chantier qualité spécifique "Auteurs Externes" département de Génétique animale : uniquement liaison auteur au référentiel HR-Access; International audience
Published: 2007

34. Design of a custom equine microRNA expression microarray using RNAseq data analysis of various equine tissues

Author: Eric Barrey, Nuria Mach, Xavier Mata, Anne Vaiman, Marco Moroldo, Jerôme Lecardonnel, Rachel Legendre, Sylvain Marthey, Denis Laloë, Florence Jaffrezic, Andrea Rau, Alice Ruet, Sean Kennedy, Laurent Schibler, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Physiologie de la reproduction et des comportements [Nouzilly] (PRC), Institut National de la Recherche Agronomique (INRA)-Institut Français du Cheval et de l'Equitation [Saumur]-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), MetaGenoPolis, Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-Institut Français du Cheval et de l'Equitation [Saumur]-Université de Tours-Centre National de la Recherche Scientifique (CNRS), and ProdInra, Migration
Subjects: [SDV.BA] Life Sciences [q-bio]/Animal biology, [SDV.BA]Life Sciences [q-bio]/Animal biology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2014

35. The prion protein family: a view from the placenta

Author: Jean Luc Vilotte, Johan Castille, Sophie Mouillet-Richard, Vincent Béringue, Hubert Laude, Samira Makzhami, Bruno Passet, Amandine Duchesne, Sophie Halliez, Daniel Vaiman, Marthe Vilotte, Katayoun Moazami-Goudarzi, Génétique Animale et Biologie Intégrative (GABI), AgroParisTech-Institut National de la Recherche Agronomique (INRA), Unité de recherche Virologie et Immunologie Moléculaires (VIM), Institut National de la Recherche Agronomique (INRA), Toxicité environnementale, cibles thérapeutiques, signalisation cellulaire (T3S - UMR_S 1124), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Unité de recherche Virologie et Immunologie Moléculaires (VIM (UR 0892)), ProdInra, Archive Ouverte, Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Recherche Agronomique (INRA) - AgroParisTech, Toxicologie, Pharmacologie et Signalisation Cellulaire (U1124), Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS), and Institut Cochin (UM3 (UMR 8104 / U1016))
Subjects: placenta, [SDV]Life Sciences [q-bio], Review Article, Biology, Genome, prion, 03 medical and health sciences, Cell and Developmental Biology, 0302 clinical medicine, Placenta, medicine, mammals, shadoo, Prion protein, lcsh:QH301-705.5, Gene, development, 030304 developmental biology, Genetics, chemistry.chemical_classification, 0303 health sciences, Cell Biology, Embryonic stem cell, Phenotype, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, lcsh:Biology (General), chemistry, doppel, Prnp gene, Glycoprotein, 030217 neurology & neurosurgery, Developmental Biology
Abstract: Based on its developmental pattern of expression, early studies suggested the implication of the mammalian Prion protein PrP, a glycosylphosphatidylinositol-anchored ubiquitously expressed and evolutionary conserved glycoprotein encoded by the [i]Prnp[/i] gene, in early embryogenesis. However, gene invalidation in several species did not result in obvious developmental abnormalities and it was only recently that it was associated in mice with intra-uterine growth retardation and placental dysfunction. A proposed explanation for this lack of easily detectable developmental-related phenotype is the existence in the genome of one or more gene (s) able to compensate for the absence of PrP. Indeed, two other members of the [i]Prnp[/i] gene family have been recently described, Doppel and Shadoo, and the consequences of their invalidation alongside that of PrP tested in mice. No embryonic defect was observed in mice depleted for Doppel and PrP. Interestingly, the co-invalidation of PrP and Shadoo in two independent studies led to apparently conflicting observations, with no apparent consequences in one report and the observation of a developmental defect of the ectoplacental cone that leads to early embryonic lethality in the other. This short review aims at summarizing these recent, apparently conflicting data highlighting the related biological questions and associated implications in terms of animal and human health.
Published: 2014
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36. Next-generation sequencing identifies equine cartilage and subchondral bone miRNAs and suggests their involvement in osteochondrosis physiopathology

Author: Johan Laubier, Clémence Desjardin, Rachel Legendre, Laurent Schibler, Anne Vaiman, Xavier Mata, Denis Laloë, Sean Kennedy, Edmond P. Cribiu, Eric Barrey, Claire Jacques, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, UR04, Université Pierre et Marie Curie - Paris 6 (UPMC), Agence Nationale de la Recherche ANR-09-GENM-006, and AgroParisTech-Institut National de la Recherche Agronomique (INRA)
Subjects: medicine.medical_treatment, In silico, GROWTH CARTILAGE, [SDV]Life Sciences [q-bio], PATHOGENESIS, MATRIX CHANGES, Osteoarthritis, Biology, Bioinformatics, Proteomics, Bone and Bones, Extracellular matrix, Weight-Bearing, EXPRESSION PROFILES, microRNA, medicine, Genetics, Animals, Osteochondrosis, Horses, Bone, Sequence Analysis, RNA, MICRORNA EXPRESSION, Cartilage, Growth factor, CHONDROCYTE DIFFERENTIATION, PROLIFERATION, High-Throughput Nucleotide Sequencing, Molecular Sequence Annotation, LOCALIZATION, ARTICULAR-CARTILAGE, medicine.disease, Equine osteochondrosis, Biomechanical Phenomena, MicroRNAs, medicine.anatomical_structure, OSTEOARTHRITIS, Horse Diseases, Research Article, Biotechnology
Abstract: Background MicroRNAs (miRNAs) are an abundant class of small single-stranded non-coding RNA molecules ranging from 18 to 24 nucleotides. They negatively regulate gene expression at the post-transcriptional level and play key roles in many biological processes, including skeletal development and cartilage maturation. In addition, miRNAs involvement in osteoarticular diseases has been proved and some of them were identified as suitable biomarkers for pathological conditions. Equine osteochondrosis (OC) is one of the most prevalent juvenile osteoarticular disorders in horses and represents a major concern for animal welfare and economic reasons. Its etiology and pathology remain controversial and biological pathways as well as molecular mechanisms involved in the physiopathology are still unclear. This study aims to investigate the potential role of miRNAs in equine osteochondrosis (OC) physiopathology. Short-read NGS technology (SOLID™, Life Technologies) was used to establish a comprehensive repertoire of miRNA expressed in either equine cartilage or subchondral bone. Undamaged cartilage and subchondral bone samples from healthy (healthy samples) and OC-affected (predisposed samples) 10-month Anglo-Arabian foals were analysed. Samples were also subjected or not to an experimental mechanical loading to evaluate the role of miRNAs in the regulation of mechano-transduction pathways. Predicted targets of annotated miRNAs were identified using miRmap. Results Epiphyseal cartilage and subchondral bone miRNome were defined, including about 300 new miRNAs. Differentially expressed miRNAs were identified between bone and cartilage from healthy and OC foals, as well as after an experimental mechanical loading. In cartilage, functional annotation of their predicted targets suggests a role in the maintenance of cartilage integrity through the control of cell cycle and differentiation, energy production and metabolism as well as extracellular matrix structure and dynamics. In bone, miRNA predicited targets were associated with osteoblasts and osteoclasts differentiation, though the regulation of energy production, vesicle transport and some growth factor signaling pathways. Conclusion Taken together, our results suggest a role of miRNAs in equine OC physiopathology and in the cellular response to biomechanical stress in cartilage and bone. In silico target prediction and functional enrichment analysis provides new insight into OC molecular physiopathology. Electronic supplementary material The online version of this article (doi:10.1186/1471-2164-15-798) contains supplementary material, which is available to authorized users.
Published: 2014
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37. MicroRNA identification and pattern expression in equine skeletal muscles, heart and liver determined by small RNA deep sequencing

Author: Xavier Mata, Anne Vaiman, Rachel Legendre, Sylvain Marthey, Denis Laloë, Florence Jaffrezic, Andrea Rau, Ruet, A., Kennedy, S., Laurent Schibler, Eric Barrey, Génétique Animale et Biologie Intégrative (GABI), and Institut National de la Recherche Agronomique (INRA)-AgroParisTech
Subjects: [SDV.BA]Life Sciences [q-bio]/Animal biology, ComputingMilieux_MISCELLANEOUS
Abstract: National audience
Published: 2013

38. MicroRNAs identification and pattern expression in equine skeletal muscles, heart and liver determined by RNA deep sequencing

Author: Mata, Xavier, Vaiman, Anne, Legendre, Rachel, Marthey, Sylvain, Laloë, Denis, Jaffrezic, Florence, Rau, Andrea, Ruet, A., Kennedy, S., Barrey, Eric, Schibler, Laurent, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, and Dorothy Russell Havemeyer Foundation, Inc.. New York, USA.
Subjects: [SDV.BA]Life Sciences [q-bio]/Animal biology, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2013

39. A Common Genetic Variant in the Insulin Receptor Gene Is Associated with Eating Difficulties at 2 Years of Age in a Cohort of Preterm Infants

Author: Valerie Amarger, Audrey Migraine, Thomas MOYON, Daniel Vaiman, Dominique Darmaun, Cyril Flamant, Jean-Christophe Rozé, Patricia Parnet, Physiologie des Adaptations Nutritionnelles (PhAN), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN), and Physiologie des Adaptations Nutritionnelles [UMR_A1280] (PhAN)
Subjects: [SDV]Life Sciences [q-bio]
Abstract: A Common Genetic Variant in the Insulin Receptor Gene Is Associated with Eating Difficulties at 2 Years of Age in a Cohort of Preterm Infants.. Final Habeat symposium: Improving infant and child eating habits, encouraging fruit and vegetable intake
Published: 2013

40. Sheep / human comparative map in a chromosome region involved in scrapie incubation time shows multiple breakpoints between human chromosomes 14 and 15 and sheep chromosomes 7 and 18

Author: COSSEDDU, G.M., Oustry-Vaiman, A., Jego, Benoît, Moreno, Carole, Taourit, S., CRIBIU, E.P., Elsen, Jean Michel, Vaiman, Daniel, ProdInra, Migration, Station d'Amélioration Génétique des Animaux (SAGA), Institut National de la Recherche Agronomique (INRA), and Unité de recherche Génétique Biochimique et Cytogénétique (LGBC)
Subjects: breakpoint, [SDV] Life Sciences [q-bio], ovis sheep, [SDV]Life Sciences [q-bio], scrapie, comparative mapping, chromosome, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2002

41. EG-VEGF controls placental growth and survival in normal and pathological pregnancies: case of fetal growth restriction (FGR)

Author: Jean-Jacques Feige, Nadia Alfaidy, Mbarka Dakouane-Giudicelli, Aude Salomon, Pascale Hoffmann, Marie-Noëlle Dieudonné, Sophie Brouillet, Sandrine Barbaux, P. De Mazancourt, Frederic Sergent, Mohamed Benharouga, Daniel Vaiman, P. Rozenberg, Padma Murthi, Biologie du Cancer et de l'Infection (BCI ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Department of Perinatal Medicine, Pregnancy Research Centre, The Royal Women's Hospital, Department of Obstetrics and Gynaecology [Melbourne], Melbourne Medical School [Melbourne], Faculty of Medicine, Dentistry and Health Sciences [Melbourne], University of Melbourne-University of Melbourne-Faculty of Medicine, Dentistry and Health Sciences [Melbourne], University of Melbourne-University of Melbourne, Département de Gynécologie, Obstétrique et Médecine de la Reproduction, CHU Grenoble, Unité de pathologie cellulaire et génétique (UPCG), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Chimie et Biologie des Métaux (LCBM - UMR 5249), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Biologie du Cancer et de l'Infection ( BCI - UMR S1036 ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Grenoble Alpes ( UGA ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Department of Obstetrics and Gynaecology, University of Melbourne, Unité de pathologie cellulaire et génétique ( UPCG ), Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ), Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de Chimie et Biologie des Métaux ( LCBM - UMR 5249 ), Université Joseph Fourier - Grenoble 1 ( UJF ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Grenoble Alpes ( UGA ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), and Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG)
Subjects: Placental growth factor, HUMAN TROPHOBLAST, Placenta, Giant Cells, Receptors, G-Protein-Coupled, Human chorionic gonadotropin, UMBILICAL ARTERY, 0302 clinical medicine, Pregnancy, MOLECULAR CHARACTERIZATION, Receptor, [ SDV.MHEP.GEO ] Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Cells, Cultured, IN-VITRO DIFFERENTIATION, 0303 health sciences, VILLOUS CYTOTROPHOBLAST DIFFERENTIATION, Fetal Growth Retardation, 030219 obstetrics & reproductive medicine, FGR, Prokineticin, Cell Hypoxia, Recombinant Proteins, Trophoblasts, Up-Regulation, 3. Good health, HOMEOBOX GENE HLX1, [ SDV.BDLR ] Life Sciences [q-bio]/Reproductive Biology, medicine.anatomical_structure, Molecular Medicine, Female, medicine.medical_specialty, Receptors, Peptide, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, CELL-PROLIFERATION, 03 medical and health sciences, Cellular and Molecular Neuroscience, HUMAN CHORIONIC-GONADOTROPIN, Internal medicine, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, RNA, Messenger, EG-VEGF, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Molecular Biology, Cell Proliferation, 030304 developmental biology, Homeodomain Proteins, Pharmacology, [ SDV.BC ] Life Sciences [q-bio]/Cellular Biology, INTRAUTERINE GROWTH, Trophoblast, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Cell Biology, Prokineticin receptor 1, medicine.disease, ENDOTHELIAL-CELLS, Placentation, Pregnancy Trimester, First, Endocrinology, Vascular Endothelial Growth Factor, Endocrine-Gland-Derived, Angiogenesis, Transcription Factors
Abstract: International audience; Identifiable causes of fetal growth restriction (FGR) account for 30 % of cases, but the remainders are idiopathic and are frequently associated with placental dysfunction. We have shown that the angiogenic factor endocrine gland-derived VEGF (EG-VEGF) and its receptors, prokineticin receptor 1 (PROKR1) and 2, (1) are abundantly expressed in human placenta, (2) are up-regulated by hypoxia, (3) control trophoblast invasion, and that EG-VEGF circulating levels are the highest during the first trimester of pregnancy, the period of important placental growth. These findings suggest that EG-VEGF/PROKR1 and 2 might be involved in normal and FGR placental development. To test this hypothesis, we used placental explants, primary trophoblast cultures, and placental and serum samples collected from FGR and age-matched control women. Our results show that (1) EG-VEGF increases trophoblast proliferation ([3H]-thymidine incorporation and Ki67-staining) via the homeobox-gene, HLX (2) the proliferative effect involves PROKR1 but not PROKR2, (3) EG-VEGF does not affect syncytium formation (measurement of syncytin 1 and 2 and β hCG production) (4) EG-VEGF increases the vascularization of the placental villi and insures their survival, (5) EG-VEGF, PROKR1, and PROKR2 mRNA and protein levels are significantly elevated in FGR placentas, and (6) EG-VEGF circulating levels are significantly higher in FGR patients. Altogether, our results identify EG-VEGF as a new placental growth factor acting during the first trimester of pregnancy, established its mechanism of action, and provide evidence for its deregulation in FGR. We propose that EG-VEGF/PROKR1 and 2 increases occur in FGR as a compensatory mechanism to insure proper pregnancy progress.
Published: 2013
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42. Trophoblasts, invasion, and microRNA

Author: Francisco Miralles, Ludivine Doridot, Sandrine Barbaux, Daniel Vaiman, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Cochin (UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Bos, Mireille
Subjects: Placenta Diseases, lcsh:QH426-470, Cellular differentiation, Review Article, Biology, Bioinformatics, miR-210, 03 medical and health sciences, angiogenesis, 0302 clinical medicine, Syncytiotrophoblast, Placenta, microRNA, medicine, Genetics, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, placental diseases, Genetics (clinical), reproductive and urinary physiology, 030304 developmental biology, 0303 health sciences, invasion mechanisms, Trophoblast, Placentation, trophoblast, female genital diseases and pregnancy complications, 3. Good health, Cell biology, microRNAs, lcsh:Genetics, medicine.anatomical_structure, 030220 oncology & carcinogenesis, embryonic structures, Molecular Medicine, imprinted genes, Genomic imprinting, oxygen
Abstract: International audience; MicroRNAs (miRNAs) have recently become essential actors in various fields of physiology and medicine, especially as easily accessible circulating biomarkers, or as modulators of cell differentiation. To this respect, terminal differentiation of trophoblasts (the characteristic cells of the placenta in Therian mammals) into syncytiotrophoblast, villous trophoblast, or extravillous trophoblast constitutes a good example of such a choice, where miRNAs have recently been shown to play an important role. The aim of this review is to provide a snapshot of what is known today in placentation mechanisms that are mediated by miRNA, under the angles of materno-fetal immune dialog regulation, trophoblast differentiation, and angiogenesis at the materno-fetal interface. Also, two aspects of regulation of these issues will be highlighted: the part played by oxygen concentration and the specific function of imprinted genes in the developing placenta.
Published: 2013
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43. Contribution of domestic animals to the identification of new genes involved in sex determination

Author: Pailhoux, Eric, Vigier, Brigitte, Vaiman, Daniel, Schibler, Laurent, Vaiman, Anne, Cribiu, Edmond, Nezer, C., Georges, M., Sundström, J., Pelliniemi, L.J., Fellous, Marc, Cotinot, Corinne, Unité biologie du développement et biotechnologie, École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), and Institut National de la Recherche Agronomique (INRA)
Subjects: [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2001

44. CIME: An integrative and multidisciplinary PNR-PE project on Chronic Impact of ED Mixture Exposure at environmental low doses on Reproduction, Development and Behavior

Author: Canivenc-Lavier, Marie-Chantal, Applanat, Martine, Auxiètre, Thuy-Anh, Babajko, Sylvie, Berdal, Ariane, Berges, Raymond, Boudalia, Sofiane, Chagnon, Marie-Christine, Cravedi, Jean-Pierre, Corvol, Marie-Thérèse, Decocq-Poumot, Laurence, Desmetz, Catherine, Dhabi, Laurence, Eustache, Florence, El Sheikh Saad, H., Helies, Cecile, Jedeon, Katia, Lalarme, Elise, Menetrier, Franck, Savouret, Jean-François, Pasquis, Bruno, Tiffon, Céline, Vaiman, Daniel, Auger, Jacques, Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7), Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Nanterre (UPN), Université Paris Descartes - Paris 5 (UPD5), Centre de Recherche des Cordeliers (CRC (UMR_S 872)), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Rothschild [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, ToxAlim (ToxAlim), Institut National de la Recherche Agronomique (INRA)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Ecole d'Ingénieurs de Purpan (INP - PURPAN), Université de Toulouse (UT)-Université de Toulouse (UT), Inconnu, Hôpital Jean Verdier [AP-HP], Prévention et promotion de la cancérogénèse par les aliments (ToxAlim-PPCA), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Recherche Agronomique (INRA)-Université Toulouse III - Paul Sabatier (UT3), Département Génétique Animale (DEPT GA), Institut National de la Recherche Agronomique (INRA), Centre National de la Recherche Scientifique (CNRS), Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Etude et de Conservation du Sperme Humain (CECOS), ProdInra, Archive Ouverte, Centre des Sciences du Goût et de l'Alimentation [Dijon] ( CSGA ), Institut National de la Recherche Agronomique ( INRA ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique ( CNRS ), Hôpital Lariboisière, Université Paris Diderot (Paris 7), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris Nanterre ( UPN ), Université Paris Descartes - Paris 5 ( UPD5 ), UMRS 872, Institut National de la Santé et de la Recherche Médicale, Hôpital Rothschild, ToxAlim ( ToxAlim ), Institut National Polytechnique [Toulouse] ( INP ) -Institut National de la Recherche Agronomique ( INRA ) -Université Toulouse III - Paul Sabatier ( UPS ), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse ( ENVT ), Institut National Polytechnique de Toulouse ( INPT ) -Institut National Polytechnique de Toulouse ( INPT ), Hôpital Jean Verdier, Assistance Publique - Hôpitaux de Paris ( AP-HP ), Département Génétique Animale ( DEPT GA ), Institut National de la Recherche Agronomique ( INRA ), Centre National de la Recherche Scientifique ( CNRS ), Institut Cochin ( UMR_S567 / UMR 8104 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre d'Etude et de Conservation du Sperme Humain ( CECOS ), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole d'Ingénieurs de Purpan (INPT - EI Purpan), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA), Hôpital Jean Verdier, Assistance Publique - Hôpitaux de Paris (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), Hôpital Rothschild [AP-HP], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)-Université Toulouse III - Paul Sabatier (UT3), Centre National de la Recherche Scientifique (CNRS)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Ecole d'Ingénieurs de Purpan (INPT - EI Purpan), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées
Subjects: [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, endocrine disruptor, perturbateur endocrinien, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, [ SDV.AEN ] Life Sciences [q-bio]/Food and Nutrition, [ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
Abstract: CIME: An integrative and multidisciplinary PNR-PE project on Chronic Impact of ED Mixture Exposure at environmental low doses on Reproduction, Development and Behavior. Colloque PNR-PE
Published: 2012

45. Differential effects of perinatal, prepubertal or conception to adulthood exposures to a low dose mixture of genistein and vinclozolin on the genital tract and fertility of male rats and their unexposed progeny

Author: Eustache, Florence, Canivenc-Lavier, Marie-Chantal, Auer, J., Berges, Raymond, Vaiman, Daniel, Auger, Jacques, U 567, Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Cochin (UMR_S567 / UMR 8104), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), Université Paris Descartes - Paris 5 (UPD5), Centre d'Etude et de Conservation du Sperme Humain (CECOS), Hôpital Jean Verdier, Assistance Publique - Hôpitaux de Paris (AP-HP), Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Inconnu, Département Génétique Animale (DEPT GA), Institut National de la Recherche Agronomique (INRA), Centre National de la Recherche Scientifique (CNRS), Hôpitaux Universitaires Paris Centre, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut Cochin ( UMR_S567 / UMR 8104 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Paris Descartes - Paris 5 ( UPD5 ), Centre d'Etude et de Conservation du Sperme Humain ( CECOS ), Hôpital Jean Verdier, Assistance Publique - Hôpitaux de Paris ( AP-HP ), Centre des Sciences du Goût et de l'Alimentation [Dijon] ( CSGA ), Institut National de la Recherche Agronomique ( INRA ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique ( CNRS ), Département Génétique Animale ( DEPT GA ), Institut National de la Recherche Agronomique ( INRA ), Centre National de la Recherche Scientifique ( CNRS ), and ProdInra, Archive Ouverte
Subjects: [SDV.TOX] Life Sciences [q-bio]/Toxicology, genistein, [SDV.AEN] Life Sciences [q-bio]/Food and Nutrition, endocrine system, animal fertility, [ SDV.AEN ] Life Sciences [q-bio]/Food and Nutrition, vinclozoline, [SDV.TOX]Life Sciences [q-bio]/Toxicology, [ SDV.TOX ] Life Sciences [q-bio]/Toxicology, fertilité animale, genistéine, rat masculin, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition
Abstract: Differential effects of perinatal, prepubertal or conception to adulthood exposures to a low dose mixture of genistein and vinclozolin on the genital tract and fertility of male rats and their unexposed progeny. Colloque PNR-PE
Published: 2012

46. Refined Mapping of a Quantitative Trait Locus on Chromosome 1 Responsible for Mouse Embryonic Death

Author: Catherine Serres, Magalie Vatin, Paul Laissue, Daniel Vaiman, Virginie Firlej, Gilles Renault, Françoise Mondon, Xavier Montagutelli, Gaetan Burgio, Ahmed Ziyyat, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique des Mammifères, Institut Pasteur [Paris] (IP), University of Tasmania [Hobart, Australia] (UTAS), Universidad del Rosario [Bogota], Génétique fonctionnelle de la Souris, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), MV is a PhD student funded by the French Ministry of Research (Doctoral School Gc2ID, Université Paris-Descartes)., We thank I. Lanctin and J. Chevalier (Pasteur Institute, Paris) for the IRCS breeding and C. Marchiol (Small animal imaging facility of the Cochin Institute, Paris) for their technical assistance. We thank J. Coquet for critical reading of the manuscript., Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris], and Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)
Subjects: Heredity, MESH: Chromosomes, Mammalian, Gene Expression, Genetic analysis, Gene, MESH: Genotype, Mice, 0302 clinical medicine, MESH: Pregnancy, Pregnancy, MESH: Reverse Transcriptase Polymerase Chain Reaction, Genotype, MESH: Animals, MESH: Embryo Loss, Genetics, 0303 health sciences, education.field_of_study, 030219 obstetrics & reproductive medicine, Multidisciplinary, Reverse Transcriptase Polymerase Chain Reaction, Cell-proliferation, Obstetrics and Gynecology, Genomics, Cytogenetic analysis, Trait Locus, Phenotype, Ginecología, Embryo Loss, Medicine, Female, Research Article, Embarazo, Science, Population, Quantitative Trait Loci, Congenic, Quantitative trait locus, Biology, Recurrent miscarriage, 03 medical and health sciences, Genome Analysis Tools, Animals, education, Trait Locus Analysis, MESH: Mice, 030304 developmental biology, Spontaneous abortion, [SDV.GEN]Life Sciences [q-bio]/Genetics, Lethality, Quantitative Traits, Chromosome, Computational Biology, Prefnancies, Ginecología & otras especialidades médicas, Preeclampsia, Chromosomes, Mammalian, MESH: Quantitative Trait Loci, Aborto, Miscarriage and Stillbirth, Disruption, MESH: Microsatellite Repeats, Animal Genetics, MESH: Female, Microsatellite Repeats, Developmental Biology
Abstract: International audience; Recurrent spontaneous abortion (RSA) is defined as the loss of three or more consecutive pregnancies during the first trimester of embryonic intrauterine development. This kind of human infertility is frequent among the general population since it affects 1 to 5% of women. In half of the cases the etiology remains unelucidated. In the present study, we used interspecific recombinant congenic mouse strains (IRCS) in the aim to identify genes responsible for embryonic lethality. Applying a cartographic approach using a genotype/phenotype association, we identified a minimal QTL region, of about 6 Mb on chromosome 1, responsible for a high rate of embryonic death (,30%). Genetic analysis suggests that the observed phenotype is linked to uterine dysfunction. Transcriptomic analysis of the uterine tissue revealed a preferential deregulation of genes of this region compared to the rest of the genome. Some genes from the QTL region are associated with VEGF signaling, mTOR signaling and ubiquitine/proteasome-protein degradation pathways. This work may contribute to elucidate the molecular basis of a multifactorial and complex human disorder as RSA.
Published: 2012
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47. Transcriptome analysis of muscle in horses suffering from recurrent exertional rhabdomyolysis revealed energetic pathway alterations and disruption in the cytosolic calcium regulation

Author: Barrey, E., Jayr, L., Mucher, E., Gospodnetic, S., Joly, F., Benech, P., Alibert, O., Gidrol, X., Mata, Xavier, Vaiman, A., Guérin, Gaetan, Unité de biologie intégrative des adaptations à l'exercice (UBIAE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Laboratoire d'Exploration Fonctionnelle des Génomes (LEFG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Diderot - Paris 7 (UPD7), and AgroParisTech-Institut National de la Recherche Agronomique (INRA)
Subjects: Male, Real-Time Polymerase Chain Reaction, Rhabdomyolysis, Mice, MESH: Gene Expression Profiling, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Animals, MESH: Animals, Horses, Muscle, Skeletal, energetic, MESH: Horses, Endoplasmic Reticulum Chaperone BiP, MESH: Mice, MESH: Muscle, Skeletal, calcium, MESH: Real-Time Polymerase Chain Reaction, Gene Expression Profiling, MESH: Transcriptome, Microarray Analysis, MESH: Rhabdomyolysis, MESH: Gene Expression Regulation, MESH: Male, horse, mitochondria, MESH: Microarray Analysis, Gene Expression Regulation, MESH: Calcium, Female, Horse Diseases, Transcriptome, MESH: Horse Diseases, MESH: Female, myopathy
Abstract: Chantier qualité GA; International audience; Recurrent exertional rhabdomyolysis (RER) is frequently observed in race horses like trotters. Some predisposing genetic factors have been described in epidemiological studies. However, the exact aetiology is still unknown. A calcium homeostasis disruption was suspected in previous experimental studies, and we suggested that a transcriptome analysis of RER muscles would be a possible way to investigate the pathway disorder. The purpose of this study was to compare the gene expression profile of RER vs. control muscles in the French Trotter to determine any metabolic or structural disruption. Total RNA was extracted from the gluteal medius and longissimus lumborum muscles after biopsies in 15 French Trotter horses, including 10 controls and 5 RER horses affected by 'tying-up' with high plasmatic muscular enzyme activities. Gene expression analysis was performed on the muscle biopsies using a 25K oligonucleotide microarray, which consisted of 24,009 mouse and 384 horse probes. Transcriptome analysis revealed 191 genes significantly modulated in RER vs. control muscles (P < 0.05). Many genes involved in fatty acid oxidation (CD36/FAT, SLC25A17), the Krebs cycle (SLC25A11, SLC25A12, MDH2) and the mitochondrial respiratory chain were severely down-regulated (tRNA, MT-ND5, MT-ND6, MT-COX1). According to the down-regulation of RYR1, SLC8A1 and UCP2 and up-regulation of APP and HSPA5, the muscle fibre calcium homeostasis seemed to be greatly affected by an increased cytosolic calcium and a depletion of the sarcoplasmic reticulum calcium. Gene expression analysis suggested an alteration of ATP synthesis, with severe mitochondrial dysfunction that could explain the disruption of cytosolic calcium homeostasis and inhibition of muscular relaxation.
Published: 2012
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48. STOX1 overexpression in mice induces severe preeclampsia-like symptoms prevented by aspirin at low doses

Author: Céline Méhats, Jean-Luc Vilotte, Françoise Mondon, Sandrine Barbaux, Ludivine Doridot, Bruno Passet, Sébastien Jacques, Johann Castille, Michelle Breuiller-Fouché, Daniel Vaiman, Marthe Vilotte, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Institut Cochin (UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS), Institut National de la Recherche Agronomique (INRA) - AgroParisTech, and Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: medicine.medical_specialty, Aspirin, 030219 obstetrics & reproductive medicine, business.industry, [SDV]Life Sciences [q-bio], Immunology, Low dose, Obstetrics and Gynecology, medicine.disease, Severe preeclampsia, 3. Good health, Preeclampsia, [SDV] Life Sciences [q-bio], preeclampsia, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Reproductive Medicine, Internal medicine, medicine, Immunology and Allergy, 030212 general & internal medicine, business, medicine.drug
Abstract: absent
Published: 2012
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49. Genomic structure, polymorphism and expression of the horse alpha-actinin-3 gene

Author: Mathieu Diribarne, Anne Vaiman, A. Ducasse, Xavier Mata, Gérard Guérin, Laurent Schibler, Génétique Animale et Biologie Intégrative (GABI), and Institut National de la Recherche Agronomique (INRA)-AgroParisTech
Subjects: Candidate gene, Pair-rule gene, Biology, polymorphism, 03 medical and health sciences, Exon, Complementary DNA, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Gene cluster, expression, MESH: Actinin, MESH: Polymorphism, Genetic, Genetics, Animals, Actinin, MESH: Animals, Horses, gene, MESH: Horses, Gene, actn3, 030304 developmental biology, 0303 health sciences, Polymorphism, Genetic, 030305 genetics & heredity, C4A, Gene targeting, General Medicine, Molecular biology, horse
Abstract: International audience; Gene characterization is an important feature for genome annotation and more particularly for candidate genes that could be selected in domestic species. Associations between an alpha-actinin-3 gene polymorphism and muscle performance were reported in humans involving a nonsense mutation (R577X) and in mice after inactivation of the gene. Here, we characterized the equine alpha-actinin-3 (ACTN3) gene by sequencing and transcript analysis. The cDNA was determined to be 3.47 kb in length with an open reading frame of 2709 bp expectedly encoding a protein 902 amino acids long. The ACTN3 gene is 13.2 kb long and contains 21 exons. The equine ACTN3 gene has a ubiquitous expression but it is overexpressed in skeletal muscles with fast fibers of type IIb. No alternative transcripts were observed. Sequencing the cDNA revealed 8 SNPs, 6 in the coding and 2 in the 3' non-coding regions with no amino acid change and not affecting potential miRNA targets. The equine in silico promoter sequence reveals a structure with two regions similar to those of other mammalian species.
Published: 2012
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50. Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

Author: Ziva Ben-Neriah, Daniel Vaiman, Marc Fellous, Petra Zavadakova, Aurélie Dipietromaria, Vered Chalifa-Caspi, Sandrine Caburet, S. Christin-Maitre, Reiner A. Veitia, Paul Laissue, Kamal Bouhali, Celine Charon, Céline Besse, Giovanni Levi, Levi, Giovanni, Institut Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Department of Genetics, Hadassah University Hospital, Hadassah University Hospital, Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre de Ressources Biologiques [Evry], Centre National du Génotypage [Evry], Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Evolution des régulations endocriniennes (ERE), Muséum national d'Histoire naturelle (MNHN)-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7), Division of Clinical Genetics, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Innsbruck Medical University [Austria] (IMU), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
Subjects: Candidate gene, endocrine system diseases, Genetic Linkage, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Genoma humano, lcsh:Medicine, Falla ovárica prematura, Primary Ovarian Insufficiency, Homozygosity, Evolución & genética, Consanguinity, 0302 clinical medicine, Human genetics, lcsh:Science, [SDV.BDD]Life Sciences [q-bio]/Development Biology, ComputingMilieux_MISCELLANEOUS, Chromosome 7 (human), Genetics, 0303 health sciences, 030219 obstetrics & reproductive medicine, Multidisciplinary, [SDV.BDLR.RS] Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, Obstetrics and Gynecology, [SDV.BDD.EO] Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, Genomics, Disease gene identification, female genital diseases and pregnancy complications, Premature ovarian failure, Arabs, Pedigree, [SDV.BDD.MOR] Life Sciences [q-bio]/Development Biology/Morphogenesis, Medicine, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Linkage analysis, Chromosomes, Human, Pair 7, Research Article, Genotyping, Genetic loci, Biology, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, 03 medical and health sciences, Genetic linkage, Genome Analysis Tools, Human families, [SDV.BDD] Life Sciences [q-bio]/Development Biology, medicine, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology, 030304 developmental biology, Clinical Genetics, Cromosomas, Haplotype, lcsh:R, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Computational Biology, Human Genetics, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, [SDV.BDD.MOR]Life Sciences [q-bio]/Development Biology/Morphogenesis, Single nucleotide polymorphisms, Sequence Analysis, DNA, medicine.disease, Genética, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, Haplotypes, Genetic Loci, lcsh:Q, Lod Score, Microsatellite Repeats
Abstract: BACKGROUND: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients.¦METHODOLOGY/PRINCIPAL FINDINGS: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LOD(max) of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations.¦CONCLUSIONS/SIGNIFICANCE: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function.
Published: 2012
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