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1. Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia

Author: J.-M. Dupont, R. C. Fierro, Jacques Auger, Patricia Fauque, Virginie Carmignac, N. Lieury, Céline Bruno, Julie Barberet, Emmanuel Dulioust, 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 ), Nancy University, Service Commun de Microscopie, Nancy-University, Universidad Autónoma Metropolitana [Mexico] ( UAM ), Universidad Autonoma Metropolitana - Cuajimalpa (UAM), Laboratoire de Biologie de la reproduction CECOS - [CHU de Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Laboratoire d'Histologie Embryologie - Biologie de la Reproduction, Université Paris Descartes - Paris 5 ( UPD5 ) -PRES Sorbonne Paris Cité-AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Service d'Histologie-Embryologie, Biologie de la Reproduction ( CECOS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Burgundy Regional Research Council, 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), Universidad Autónoma Metropolitana [Mexico] (UAM), Universidad Autonoma Metropolitana, Unidad Cuajimalpa, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Hôpital Cochin [AP-HP], Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, and CHU Cochin [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: Adult, Male, 0301 basic medicine, Reproductive Techniques, Assisted, pregnancy outcomes, Urology, Endocrinology, Diabetes and Metabolism, Twins, men, Semen, Reproductive technology, Biology, medicine.disease_cause, Andrology, Teratozoospermia, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Polyploid, c c.144delc mutation, medicine, Humans, Aurora Kinase C, Genetic Testing, Aurora Kinase C Gene, [SDV.GEN]Life Sciences [q-bio]/Genetics, aurora kinase C gene, Mutation, assisted reproductive technologies, 030219 obstetrics & reproductive medicine, urogenital system, tailed spermatozoa, Genetic Status, head, Sperm, 3. Good health, macrozoospermia, human sperm, 030104 developmental biology, Reproductive Medicine, male-infertility, Sperm Head, aneuploidy rate, flow-cytometry, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, polyploid spermatozoa
Abstract: International audience; Macrozoospermia is characterized by a high proportion of abnormal spermatozoa with enlarged heads. So far, it has been associated with mutations only in the Aurora Kinase C gene (AURKC) in some cases. Although many publications have reported failure to conceive in couples with macrozoospermia, a few others have described successful pregnancies, thus raising questions as to whether ICSI and AURKC genetic screening should be recommended in all patients with macrozoospermia. First, we report on two monozygotic twins presenting macrozoospermia for whom the genetic status was explored (Aurora Kinase C sequencing) and whole semen and gradient-selected spermatozoa were analyzed, using Fluorescent In Situ Hybridization (FISH), Electron Microscopy and flow cytometry. Additionally, FISH analysis was performed on individually selected uniflagellate spermatozoa with normal sized heads. Second, we also provide an updated review of patients with macrozoospermia gathering the percentage of enlarged head spermatozoa, the genetic status and pregnancy outcomes. Both twins carried a homozygous mutation of AURKC. Spermocytograms showed means of 86% and 83.5% of enlarged head forms. FISH analyses showed that normal head size, uniflagellate spermatozoa had an aneuploid or polyploid nucleus despite a high level of selection. SEM analysis also showed special intranuclear inclusions in enlarged head spermatozoa. Our data together with cases reported in the literature allowed us to recommend that the AURKC gene should be sequenced when the sperm contains 30% or more of enlarged head spermatozoa, and when a mutation is found, ART should not be performed. Our analyses provide information that could greatly help practitioners in their decision-making with regard to optimal care of patients with macrozoospermia.
Published: 2017

2. Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

Author: Marhaba Chaudhry, Sergey N. Savinov, Caroline Cazin, Gérard Gacon, Laurence Stouvenel, Abbas Daneshipour, Christophe Arnoult, Jean-Philippe Wolf, François Guillonneau, Raoudha Zouari, Pierre F. Ray, Maëlle Givelet, Jean-Fabrice Nsota Mbango, Alain Schmitt, Emmanuel Dulioust, Amir Amiri-Yekta, Lazhar Halouani, Denis Dacheux, Zeinab Sakheli, Patrick Lorès, Selima Fourati Ben Mustapha, Côme Ialy-Radio, Charles Coutton, Seyedeh Hanieh Hosseini, Aminata Touré, Lucile Ferreux, Maryline Favier, Mélanie Bonhivers, Zine-Eddine Kherraf, Catherine Patrat, Derrick R. Robinson, Ahmed Ziyyat, Ouafi Marrakchi, Elma El Khouri, Marjorie Whitfield, Marcio Do Cruzeiro, 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), Microbiologie cellulaire et moléculaire et pathogénicité (MCMP), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), AGeing and IMagery (AGIM), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École pratique des hautes études (EPHE)-Centre National de la Recherche Scientifique (CNRS), 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), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), CHU Cochin [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Clinique de Promotion des Sciences de la Reproduction - Les Jasmins (CPSR), Clinique de Promotion des Sciences de la Reproduction, Clinique de la reproduction les Jasmins, Polyclinique les Jasmins [Tunis], Plateforme Recombinaison Homologue, Transfert d'Embryons et Cryoconservation [Institut Cochin] (PRHTEC), 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), Plateforme protéomique 3P5 [Institut Cochin] (3P5), Génétique et Biologie du Développement, Centre National de la Recherche Scientifique (CNRS)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), University of Massachusetts [Amherst] (UMass Amherst), University of Massachusetts System (UMASS), Laboratoire des Venins et Toxines, Institut Pasteur de Tunis, Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Laboratoire d'Histologie Embryologie - Biologie de la Reproduction, Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], 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 Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Génétique, Reproduction et Développement (GReD ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Microbiologie Fondamentale et Pathogénicité (MFP), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École Pratique des Hautes Études (EPHE), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Clinique de Promotion des Sciences de la Reproduction [Tunis] (CPSR), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-12-BSV1-0011,MUCOFERTIL,La protéine TAT1 (SLC26A8), partenaire et activateur de CFTR dans le spermatozoïde, au carrefour des infertilités masculines et de la mucoviscidose.(2012), and ANR-11-LABX-0024,ParaFrap,Alliance française contre les maladies parasitaires(2011)
Subjects: Male, 0301 basic medicine, Axoneme, Trypanosoma brucei brucei, TPR, Fertilization in Vitro, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Flagellum, Biology, Asthenozoospermia, sperm, [SDV.MP.PRO]Life Sciences [q-bio]/Microbiology and Parasitology/Protistology, Article, Frameshift mutation, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, trypanosome, Trypanosomiasis, Intraflagellar transport, TTC29, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Genetics, medicine, Animals, Humans, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Gene, Infertility, Male, Genetics (clinical), mouse, asthenozoospermia, 030219 obstetrics & reproductive medicine, Sperm flagellum, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Sperm, Mice, Inbred C57BL, [SDV.BBM.BP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biophysics, Tetratricopeptide, 030104 developmental biology, Mutation, MMAF, Female, flagella, infertility, Microtubule-Associated Proteins
Abstract: International audience; In humans, structural or functional defects of the sperm flagellum induce asthenozoospermia, which accounts for the main sperm defect encountered in infertile men. Herein we focused on morphological abnormalities of the sperm flagellum (MMAF), a phenotype also termed "short tails," which constitutes one of the most severe sperm morphological defects resulting in asthenozoospermia. In previous work based on whole-exome sequencing of a cohort of 167 MMAF-affected individuals, we identified bi-allelic loss-of-function mutations in more than 30% of the tested subjects. In this study, we further analyzed this cohort and identified five individuals with homozygous truncating variants in TTC29, a gene preferentially and highly expressed in the testis, and encoding a tetratricopeptide repeat-containing protein related to the intraflagellar transport (IFT). One individual carried a frameshift variant, another one carried a homozygous stop-gain variant, and three carried the same splicing variant affecting a consensus donor site. The deleterious effect of this last variant was confirmed on the corresponding transcript and protein product. In addition, we produced and analyzed TTC29 loss-of-function models in the flagellated protist T. brucei and in M. musculus. Both models confirmed the importance of TTC29 for flagellar beating. We showed that in T. brucei the TPR structural motifs, highly conserved between the studied orthologs, are critical for TTC29 axonemal localization and flagellar beating. Overall our work demonstrates that TTC29 is a conserved axonemal protein required for flagellar structure and beating and that TTC29 mutations are a cause of male sterility due to MMAF.
Published: 2019

3. The Developmental Implications of the Use of Reproductive Technologies for Transgender People: A Comparative Cross-Section Protocol

Author: Grégor Mamou, Chrystelle Lagrange, Nicolas Mendes, Joy Wielart, Fanny Poirier, François Medjkane, Julie Brunelle, Véronique Drouineaud, Ouriel Rosenblum, Nouria Gründler, François Ansermet, Bruno Falissard, David Cohen, Agnès Condat, Fondation Santé des Etudiants de France [Sceaux] (Clinique Dupré), Service de Psychiatrie de l'Enfant et de l'Adolescent [CHU Pitié-Salpêtrière] (SPEA), CHU Pitié-Salpêtrière [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), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Institut des Systèmes Intelligents et de Robotique (ISIR), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Ecole doctorale Cerveau Cognition et Comportement [Paris] (ED 158 - 3C), Sorbonne Université (SU), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gestionnaire, Hal Sorbonne Université, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Coping (psychology), lcsh:RC435-571, [SDV]Life Sciences [q-bio], reproductive technologies, Reproductive technology, Likert scale, Developmental psychology, 03 medical and health sciences, Study Protocol, 0302 clinical medicine, 5. Gender equality, lcsh:Psychiatry, Transgender, Cognitive development, Psychomotor learning, Psychiatry, child, Mental health, transgender, 030227 psychiatry, 3. Good health, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, Psychological well-being, adolescent, psychological well-being, Psychology, 030217 neurology & neurosurgery
Abstract: Background Today, individuals and couples with fertility issues can use advances in biomedical technologies to conceive. Transgender persons also benefit from these advances and can not only actualize their self-identified gender identities but also experience parenthood. These strategies for persons to self-actualize and to access parenthood have improved the condition of transgender persons. However, some may question the welfare of the offspring because such transfamily forms are often confusing to many. The sparse research on the psychological well-being of children of transgender people is reassuring. However, the limited empirical research justifies more studies to be conducted with an evidence-based methodology to assess whether these new methods of parenting have any adverse impact on children. Aims The current report details the protocol we built to compare cognitive development, mental health, gender identity, quality of life, and family dynamics in children of transgender fathers and donor sperm insemination (DSI) and two control groups matched for age and gende typically developing (TD) children and children from cisgender parents and DSI. Hypothesis To calculate sample sizes, we hypothesize no significant difference between groups. Subjects and Methods Since 2008, married couples that include a transgender father have been able to access DSI and have started conceiving children in France. They are always invited to participate in research to assess their children's well-being. To date, the cohort includes 53 children in 37 families. We propose to carry out a cross-sectional comparative study exploring cognitive development with the Brunet-Lezine Psychomotor Development Scale or Wechsler's Intelligence Scales according to age; mental health with the Child Behaviour Checklist; gender identity with the Gender Identity Interview for Children; quality of life with the KIDSCREEN and the Adolescent Coping Questionnaire; and family dynamics with the Parental Bonding Instrument, the Inventory of Parent and Peer Attachment, the Five-Minute Speech Sample, and Corman's Family Drawing Test. To assess possible subtle differences between children's family drawings, we will use a generalization of the "lady-tasting-tea" procedure to link qualitative and quantitative approaches in psychiatric research. Twenty raters [four child and family psychoanalysts (CHILDPSY), four adult psychiatrists (ADUPSY), four biologists working in assistive reproduction technology (BIOL), four endocrinologists working with transgender individuals (ENDOC), and four students (STUD)] will be randomly shown the drawings and asked to blindly classify them using a Likert scale according to whether the child has a transgender father. Statistical Analysis After testing normality, comparisons between the three groups will be performed with appropriate statistical tests (Kruskal-Wallis, ANOVA, Chi2 or Fisher's exact test). For the "lady-tasting-tea" procedure, we will use a permutation test. Ethics The study protocol has been approved by the CERES (Comite d'Ethique de Recherche en Sante) of Paris 5 University. Registration number is 2015/31.
Published: 2019

4. Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

Author: Marie Cristou-Kent, Nicolas Thierry-Mieg, Charles Coutton, Jessica Escoffier, Amir Amiri-Yekta, Xiaojin He, Sylviane Hennebicq, Mounir Makni, Mélanie Bonhivers, Nathalie Rives, Pierre F. Ray, Marie Bidart, Christophe Arnoult, H Gourabi, Raoudha Zouari, Seyedeh Hanieh Hosseini, Habib Latrous, Véronique Satre, Lazhar Halouani, Béatrice Conne, Mahmoud Kharouf, Aminata Touré, Magalie Boguenet, Guillaume Martinez, Feng Zhang, Zine-Eddine Kherraf, Ouafi Marrakchi, Serge Nef, Emmanuel Dulioust, Selima Fourati Ben Mustapha, Yunxia Cao, Antoine Saut, Karin Pernet-Gallay, Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Fudan University [Shanghai], CHU Grenoble, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, BrainTech Laboratory [CHU Grenoble Alpes - Inserm U1205] (Brain Tech Lab ), CHU Grenoble-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), University of Geneva [Switzerland], Polyclinique les Jasmins [Tunis], [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Microbiologie cellulaire et moléculaire et pathogénicité (MCMP), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Gamétogenèse et Qualité du Gamète - ULR 4308 (GQG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université de Lille, CHU Rouen, Normandie Université (NU), Academic Center for Education, Culture and Research (ACECR), Biologie Computationnelle et Mathématique (TIMC-IMAG-BCM), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), The 'MAS Flagella' project financed by French ANR and the DGOS for the program PRTS 2014 (P.F.R.), the 'Whole genome sequencing of subjects with Flagellar Growth Defects (FGD)' financed by the fondation maladies rares (FMR) for the program Séquençage à haut débit 2012 (P.F.R.)., ANR-14-CE15-0002,MAS Flagella,Génétique et Physiopathologie des anomalies morphologiques du flagelle spermatique associé à une infertilité masculine.(2014), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Anhui Medical University [Hefei, China], Université de Genève = University of Geneva (UNIGE), Microbiologie Fondamentale et Pathogénicité (MFP), Faculté de médecine [Genève], Thierry-Mieg, Nicolas, and Appel à projets générique - Génétique et Physiopathologie des anomalies morphologiques du flagelle spermatique associé à une infertilité masculine. - - MAS Flagella2014 - ANR-14-CE15-0002 - Appel à projets générique - VALID
Subjects: Male, 0301 basic medicine, Cell Cycle Proteins, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Asthenozoospermia, medicine.disease_cause, Male infertility, Mice, 03 medical and health sciences, 0302 clinical medicine, Report, Genetics, medicine, Animals, Humans, ddc:576.5, Cilia, Spermatogenesis, Alleles, Infertility, Male, [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology, Genetics (clinical), Mutation, [SDV.BIBS] Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 030219 obstetrics & reproductive medicine, Sperm flagellum, Multiple morphological anomalies of the flagella (MMAF), Proteins, Axonemal central pair, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, medicine.disease, Sperm, Phenotype, Spermatozoa, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], SPEF2, Cytoskeletal Proteins, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Flagella, Infertility, Microtubule Proteins, CRISPR-Cas Systems
Abstract: International audience; Male infertility is a major health concern. Among its different causes, multiple morphological abnormalities of the flagella (MMAF) induces asthenozoospermia and is one of the most severe forms of qualitative sperm defects. Sperm of affected men display short, coiled, absent, and/or irregular flagella. To date, six genes (DNAH1, CFAP43, CFAP44, CFAP69, FSIP2, and WDR66) have been found to be recurrently associated with MMAF, but more than half of the cases analyzed remain unresolved, suggesting that many yet-uncharacterized gene defects account for this phenotype. Here, whole-exome sequencing (WES) was performed on 168 infertile men who had a typical MMAF phenotype. Five unrelated affected individuals carried a homozygous deleterious mutation in ARMC2, a gene not previously linked to the MMAF phenotype. Using the CRISPR-Cas9 technique, we generated homozygous Armc2 mutant mice, which also presented an MMAF phenotype, thus confirming the involvement of ARMC2 in human MMAF. Immunostaining experiments in AMRC2-mutated individuals and mutant mice evidenced the absence of the axonemal central pair complex (CPC) proteins SPAG6 and SPEF2, whereas the other tested axonemal and peri-axonemal components were present, suggesting that ARMC2 is involved in CPC assembly and/or stability. Overall, we showed that bi-allelic mutations in ARMC2 cause male infertility in humans and mice by inducing a typical MMAF phenotype, indicating that this gene is necessary for sperm flagellum structure and assembly.
Published: 2019

5. Sedentary behavior, physical inactivity and body composition in relation to idiopathic infertility among men and women

Author: Foucaut, Aude-Marie, Faure, Céline, Julia, Chantal, Czernichow, Sébastien, Levy, Rachel, Dupont, Charlotte, Aknin, Isabelle, Cedrin-Durnerin, Isabelle, Cens, Steven, Chavatte-Palmer, Pascale, Hercberg, Serge, Pocate, Khaled, Sermondade, Nathalie, Uthurriague, Claude, Wolf, Jean-Philippe, Alifert Collaborative Group, ., ProdInra, Migration, Université Paris Nord (Paris 13), Université Sorbonne Paris Cité (COMUE) (USPC), Service de Biologie de la Reproduction-CECOS, Hôpital de l'Hôtel-Dieu, Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Santé Publique, Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université Paris Descartes - Paris 5 (UPD5), Sorbonne Universités (COMUE), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Service de Médecine de la Reproduction, Assistance Publique - Hôpitaux de Paris, Polyclinique de Navarre, Partenaires INRAE, Biologie du Développement et Reproduction (BDR), École nationale vétérinaire - Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Centre de Recherche en Nutrition Humaine, Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Hôpital Cochin [AP-HP], [P071224 ALIFERT], Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA), École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Infertility, Adult, Male, media_common.quotation_subject, Science, [SDV]Life Sciences [q-bio], Fertility, [INFO] Computer Science [cs], Logistic regression, Sitting, Male infertility, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Sex Factors, Risk Factors, Surveys and Questionnaires, Medicine, Humans, [INFO]Computer Science [cs], 030212 general & internal medicine, Exercise, Infertility, Male, media_common, 2. Zero hunger, 030219 obstetrics & reproductive medicine, Multidisciplinary, business.industry, Female infertility, Anthropometry, medicine.disease, Obesity, Confidence interval, [SDV] Life Sciences [q-bio], Case-Control Studies, Body Composition, Observational study, Female, France, Sedentary Behavior, business, Bioelectrical impedance analysis, Body mass index, Infertility, Female, Demography, Research Article
Abstract: BackgroundPhysical activity and sedentary behavior has inconsistent effects on fertility. High body mass index is associated with infertility but to our knowledge, very few studies have explored body composition in association to fertility.ObjectiveTo assess the association between physical inactivity, sedentary behavior, body composition and idiopathic infertility in French men and women.DesignWe conducted a case-control multicentric observational study. 159 infertile (79 men and 80 women) and 143 fertile (72 men and 71 women) were recorded in four fertility centers.Main Outcome MeasuresParticipants completed self-administered questionnaires on sociodemographic and lifestyle characteristics, dietary intake, physical activity and sedentary behavior. Anthropometrics were measured, and bioelectrical impedance analysis was used to estimate body composition. Multivariable logistic regression was used to analyze the association of fertility with PA level and sedentary behavior.ResultsIn men, being physically inactive (Odd ratio [OR] 2.20; 95% confidence interval [CI], 1.06, 4.58) and having fat mass greater than the reference values for their age (OR 2.83; 95%CI, 1.31, 6.10) were positively associated with infertility. Sedentary behavior and fat-free mass were not related to infertility in men. In women, sedentary behavior (OR 3.61; 95%CI, 1.58, 8.24), high body fat (OR 3.16; 95%CI, 1.36, 7.37) and low fat-free mass (OR 2.65; 95%CI, 1.10, 6.37) were associated with infertility. PA level was not associated with fertility in women.ConclusionsThis study suggests that sedentary behavior and physical inactivity would represent two independent risk factors associated with fertility. The various elements that make up physical activity (frequency, intensity, time, and type of exercise) and the interrupting time spent sitting should be considered. Body composition variation should be explored further in relation to the biological pathways involved in idiopathic infertility. Moreover, the improvement of lifestyle factors should be considered in infertility treatment.
Published: 2019

6. Identification of a New QTL Region on Mouse Chromosome 1 Responsible for Male Hypofertility: Phenotype Characterization and Candidate Genes

Author: Daniel Vaiman, Magalie Vatin, Ahmed Ziyyat, Xavier Montagutelli, Sandrine Barbaux, Marie-Sophie Girault, Virginie Firlej, Côme Ialy-Radio, Carmen Marchiol, MONTAGUTELLI, Xavier, 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), Génétique de la souris - Mouse Genetics, Institut Pasteur [Paris] (IP), 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 research received no external funding. 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 de Paris., Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Institut Pasteur [Paris], Hôpital Cochin [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Male, Candidate gene, globozoospermia, Male infertility, lcsh:Chemistry, Mice, 0302 clinical medicine, lcsh:QH301-705.5, Spectroscopy, Epididymis, Genetics, 0303 health sciences, biology, teratozoospermia, General Medicine, Spermatids, Spermatozoa, Phenotype, Computer Science Applications, Chromosomes, Human, Pair 1, Female, infertility, Acrosome, Mus spretus, Quantitative Trait Loci, Congenic, [SDV.GEN.GA] Life Sciences [q-bio]/Genetics/Animal genetics, Quantitative trait locus, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, IRCS, medicine, Animals, Humans, Physical and Theoretical Chemistry, Molecular Biology, Gene, Infertility, Male, 030304 developmental biology, Cell Nucleus, Mouse Model, Organic Chemistry, Chromosome, biology.organism_classification, medicine.disease, spermatogenesis, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, lcsh:Biology (General), lcsh:QD1-999, 030217 neurology & neurosurgery
Abstract: We thank C. Serres for scientific discussions, the staff of the animal facility of Institut Pasteur (Paris) for the IRCS breeding and A. Schmitt from the Plateforme imagerie: Microscopie Electronique of the Cochin Institute (Paris) for his technical assistance.; International audience; Male fertility disorders often have their origin in disturbed spermatogenesis, which can be induced by genetic factors. In this study, we used interspecific recombinant congenic mouse strains (IRCS) to identify genes responsible for male infertility. Using ultrasonography, in vivo and in vitro fertilization (IVF) and electron microscopy, the phenotyping of several IRCS carrying mouse chromosome 1 segments of Mus spretus origin revealed a decrease in the ability of sperm to fertilize. This teratozoospermia included the abnormal anchoring of the acrosome to the nucleus and a persistence of residual bodies at the level of epididymal sperm midpiece. We identified a quantitative trait locus (QTL) responsible for these phenotypes and we have proposed a short list of candidate genes specifically expressed in spermatids. The future functional validation of candidate genes should allow the identification of new genes and mechanisms involved in male infertility.
Published: 2020

7. Biotechnologies that empower transgender persons to self-actualize as individuals, partners, spouses, and parents are defining new ways to conceive a child: psychological considerations and ethical issues

Author: François Ansermet, Nouria Gründler, Jean-Philippe Wolf, Véronique Drouineaud, Agnès Condat, Chrystelle Lagrange, Nicolas Mendes, Colette Chiland, David Cohen, Service de Psychiatrie de l'Enfant et de l'Adolescent [CHU Pitié-Salpêtrière] (SPEA), CHU Pitié-Salpêtrière [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), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Clinique, Psychanalyse, Développement (CliPsyD), Université Paris Nanterre (UPN), POPI, Centre Dominique Mahieu-Caputo, Hôpitaux Universitaires de Genève (HUG), Institut des Systèmes Intelligents et de Robotique (ISIR), Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and HAL UPMC, Gestionnaire
Subjects: Gender dysphoria, Reproductive Techniques, Assisted, media_common.quotation_subject, Fertility, Human condition, Review, 03 medical and health sciences, 0302 clinical medicine, History and Philosophy of Science, Multidisciplinary approach, medicine, Humans, 030212 general & internal medicine, Biomedical technology, Assisted reproduction technologies, media_common, Ethics, lcsh:R723-726, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, 030219 obstetrics & reproductive medicine, Transgender persons, Health Policy, Equity (finance), General Medicine, Bioethics, Gender transition, medicine.disease, 3. Good health, Issues, ethics and legal aspects, Philosophy of medicine, Fertilization, Engineering ethics, lcsh:Medical philosophy. Medical ethics, Psychology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Biotechnology
Abstract: Today, thanks to biomedical technologies advances, some persons with fertility issues can conceive. Transgender persons benefit also from these advances and can not only actualize their self-identified sexual identities but also experience parenthood. Based on clinical multidisciplinary seminars that gathered child psychiatrists and psychoanalysts interested in the fields of assisted reproduction technology (ART) and gender dysphoria, philosophers interested in bioethics, biologists interested in ART, and endocrinologists interested in pubertal suppression, we explore how new biotechnical advances, whether in gender transition or procreation, could create new ways to conceive a child possible. After reviewing the various medical/surgical techniques for physical gender transition and the current ART options, we discuss how these new ways for persons to self-actualize and to experience parenthood can not only improve the condition of transgender persons (and the human condition as a whole through greater equity) but also introduce some elements of change in the habitual patterns of thinking especially in France. Finally, we discuss the ethical issues that accompany the arrival of these children and provide creative solutions to help society handle, accept, and support the advances made in this area. Electronic supplementary material The online version of this article (10.1186/s13010-018-0054-3) contains supplementary material, which is available to authorized users.
Published: 2018

8. Extended culture of poor-quality supernumerary embryos improves ART outcomes

Author: Amira Sallem, Mathilde Bourdon, Jean-Philippe Wolf, Dominique de Ziegler, Charles Chapron, Virginie Barraud-Lange, Nathalie Le Foll, Pietro Santulli, Lucile Ferreux, Khaled Pocate-Cheriet, Chloé Maignien, Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Sorbonne Paris Cité (USPC), 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), Service de Gynécologie Obstétrique II et Médecine de la Reproduction, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), POCATE CHERIET, Khaled, Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS), Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Cochin [AP-HP], 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), and CHU Cochin [AP-HP] - Université Paris Descartes - Paris 5 (UPD5) - PRES Sorbonne Paris Cité - GHU Paris Ile-de-France Ouest
Subjects: 0301 basic medicine, Pregnancy Rate, Cryopreservation, Cohort Studies, Embryo Culture Techniques, 0302 clinical medicine, Pregnancy, Assisted Reproduction Technologies, Birth Rate, Genetics (clinical), reproductive and urinary physiology, Supernumerary embryos, 030219 obstetrics & reproductive medicine, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Pregnancy Outcome, Obstetrics and Gynecology, Embryo, General Medicine, Embryo transfer, 3. Good health, medicine.anatomical_structure, Neonatal outcomes, embryonic structures, Female, Live birth, Live Birth, Adult, medicine.medical_specialty, Fertilization in Vitro, Biology, Andrology, 03 medical and health sciences, Genetics, medicine, Humans, Supernumerary, Blastocyst, Sperm Injections, Intracytoplasmic, Retrospective Studies, Gynecology, Infant, Newborn, medicine.disease, Embryo Transfer, Pregnancy rate, Blastocyst quality, 030104 developmental biology, Reproductive Medicine, Embryo morphology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Developmental Biology
Abstract: International audience; PURPOSE:The aims of this study were to investigate the possible benefits of extending the culture of poor-quality day-2 embryos (PQE) versus good-quality embryos (GQE) and to identify factors associated with pregnancy and live birth when transferring frozen-thawed blastocysts originating from GQE and PQE.METHODS:This is a retrospective cohort follow-up study performed between November 2012 and February 2015 at the IVF Laboratory Unit of Cochin University Hospital (Paris, France) including 3108 day-2 supernumerary embryos resulting from 1237 IVF/ICSI cycles.RESULTS:Total blastulation rate was 67.2% from GQE and 48.7% from PQE. Percentage of good-quality blastocysts was 60.7 and 47.9% respectively including 14.7 and 7.3% top-quality blastocysts. A total of 150 blastocysts originating from GQE and 729 from PQE were frozen, and then, 37 and 164 were thawed and transferred respectively resulting in 19 (51.4%) and 61 (37.9%) clinical pregnancies with 13 (35.1%) deliveries from GQE and 32 (19.9%) from PQE (p = 0.046) without any difference in neonatal outcomes. Quality of blastocysts that resulted in live birth was similar in the two groups. Women < 35 years old and day-5 blastocyst expansion were predictive of pregnancy and live birth.CONCLUSIONS:(i) PQE are able to reach the blastocyst stage, to implant, and to give healthy babies and (ii) women age and day of blastocyst expansion are predictive of pregnancy and live birth.
Published: 2017

9. Endocrine Disruptors and Health Effects in Africa: A Call for Action

Author: Andreas Kortenkamp, N. H. Aneck-Hahn, Hindrik Bouwman, Bruce Blumberg, Bernard Jégou, G.M. Wagenaar, Christiaan De Jager, Jacques Auger, Joseph DiGangi, Sean Mark Patrick, Maria S. Bornman, I.E.J. Barnhoorn, Jerrold J. Heindel, Sarah Kimmins, Laura N. Vandenberg, University of Pretoria [South Africa], University of Johannesburg [South Africa] (UJ), North-West University [Potchefstroom] (NWU), Department of Zoology, University of Venda [Republic of South Africa], University of Venda [South Africa] (UNIVEN), University of Massachusetts [Amherst] (UMass Amherst), University of Massachusetts System (UMASS), Brunel University London [Uxbridge], University of California [Irvine] (UC Irvine), University of California (UC), McGill University = Université McGill [Montréal, Canada], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), 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), Laboratoire d'Histologie Embryologie - Biologie de la Reproduction, Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), National Institute of Environmental Health Sciences [Durham] (NIEHS-NIH), National Institutes of Health [Bethesda] (NIH), University of Johannesburg (UJ), University of Venda, University of California [Irvine] (UCI), University of California, Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Hôpital Cochin [AP-HP], Chard-Hutchinson, Xavier, University of Johannesburg ( UJ ), North-West University [Potchefstroom] ( NWU ), University of Massachusetts [Amherst] ( UMass Amherst ), Brunel University London, University of California [Irvine] ( UCI ), McGill University, Institut de recherche, santé, environnement et travail ( Irset ), Université d'Angers ( UA ) -Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -École des Hautes Études en Santé Publique [EHESP] ( EHESP ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ) -Université des Antilles ( UA ), Service d'Histologie-Embryologie, Biologie de la Reproduction ( CECOS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Université Paris Descartes - Paris 5 ( UPD5 ) -PRES Sorbonne Paris Cité-AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], and National Institute of Environmental Health Sciences
Subjects: Health, Toxicology and Mutagenesis, Water research, Public health interventions, Library science, Commission, Endocrine Disruptors, 010501 environmental sciences, Toxicology, Risk Assessment, Medical and Health Sciences, 01 natural sciences, Hazardous Substances, [ SDV.EE.SANT ] Life Sciences [q-bio]/Ecology, environment/Health, 03 medical and health sciences, Human health, 0302 clinical medicine, Environmental health, Political science, [SDV.EE.SANT] Life Sciences [q-bio]/Ecology, environment/Health, Humans, 030212 general & internal medicine, Environmental policy, 0105 earth and related environmental sciences, [SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, Extramural, Public Health, Environmental and Occupational Health, Environmental Exposure, Environmental exposure, Estrogen, Environmental Policy, 3. Good health, Good Health and Well Being, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, 13. Climate action, Africa, Commentary, Environmental Pollutants, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Malaria control, Environmental Sciences
Abstract: International audience; BACKGROUND: Africa faces a number of unique environmental challenges. Unfortunately, it lacks the infrastructure needed to support the comprehensive environmental studies that could provide the scientific basis to inform environmental policies. There are a number of known sources of endocrine-disrupting chemicals (EDCs) and other hazardous chemicals in Africa. However, a coordinated approach to identify and monitor these contaminants and to develop strategies for public health interventions has not yet been made. OBJECTIVES: This commentary summarizes the scientific evidence presented by experts at the First African Endocrine Disruptors meeting. We describe a "call to action" to utilize the available scientific knowledge to address the impact of EDCs on human and wildlife health in Africa. DISCUSSION: We identify existing knowledge gaps about exposures to EDCs in Africa and describe how well-designed research strategies are needed to address these gaps. A lack of resources for research and a lag in policy implementation slows down intervention strategies and poses a challenge to advancing future health in Africa. CONCLUSION: To address the many challenges posed by EDCs, we argue that Africans should take the lead in prioritization and evaluation of environmental hazards, including EDCs. We recommend the institution of education and training programs for chemical users, adoption of the precautionary principle, establishment of biomonitoring programs, and funding of community-based epidemiology and wildlife research programs led and funded by African institutes and private companies. https://doi.org/10.1289/EHP1774.
Published: 2017

10. Zika virus and reproduction: facts, questions and current management

Author: Emmanuel Dulioust, Alexandra Benachi, Catherine Patrat, Loïc Epelboin, Sylvie Epelboin, Françoise Merlet, Service de Gynécologie - Obstétrique [CHU Bichat], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Unité des Maladies Infectieuses et Tropicales (UMIT), Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française], Université de Guyane (UG), Service de gynécologie-obstétrique, médecine de la reproduction [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Agence de la biomédecine [Saint-Denis la Plaine], Epigenèse et développement des mammifères, Génétique et Biologie du Développement, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Dpt gynécologie [CHU Bichat], Hôpital Cochin [AP-HP], AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), and Centre National de la Recherche Scientifique (CNRS)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)
Subjects: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Sexual transmission, media_common.quotation_subject, Population, Zoology, Fertility, Orchitis, Biology, Zika virus, 03 medical and health sciences, Mice, 0302 clinical medicine, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Pregnancy, Semen, Pandemic, medicine, Animals, Humans, Sex organ, 030212 general & internal medicine, Pregnancy Complications, Infectious, education, media_common, education.field_of_study, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Transmission (medicine), Zika Virus Infection, Reproduction, Obstetrics and Gynecology, Sexually Transmitted Diseases, Viral, Zika Virus, medicine.disease, biology.organism_classification, Infectious Disease Transmission, Vertical, 3. Good health, 030104 developmental biology, Reproductive Medicine, Vagina, Microcephaly, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Female
Abstract: Background Zika virus (ZIKV) is an arthropod-borne virus of the family Flaviviridae, genus Flavivirus. ZIKV is currently the focus of an ongoing pandemic and worldwide public health emergency. Although originally isolated in 1947, its pathogenesis was poorly known and very few documented infections were published until recently. Its route of transmission and its impact on reproduction and pregnancy have only recently begun to be disclosed. Objective and rationale This review summarizes the most recent knowledge about ZIKV infection and pathogenesis and focuses on its impacts on male and female genital tracts, including the risks of sexual transmission and to pregnancy. The consequences of ZIKV infection for pregnancy planning and ART are also discussed. Search methods The PubMed and EMBASE databases were inter-rogated using specific terms, such as 'ZIKV', 'transmission', 'male', 'female', fertility', 'pregnancy, 'semen', 'testis', 'ovary' and 'genital tract', up to 17 March 2017. Outcomes ZIKV has long been considered a harmless virus, but increasing evidence suggests that it has adverse effects on the neurological system and on pregnancy outcomes. In mice, ZIKV slows foetal growth and damages the foetal brain. In humans, the virus is able to cross the placental barrier and to induce foetal death and major anomalies, such as microcephaly, brain defects and long-term neurologic sequelae, i.e. the 'congenital Zika syndrome'. In addition to its transmission by mosquitoes, ZIKV may be transmitted sexually. Currently available data indicate that ZIKV RNA can remain detectable in semen for several months, whereas shedding in the female genital tract appears to be rare and of short duration. Current guidance on preventing the sexual transmission of ZIKV is based on the assumption that transmission occurs from a male partner to a receptive partner. Furthermore, in mouse models, the virus can actively replicate in male genital organs and induce severe orchitis, which raises concerns about its possible impact on human male fertility. Wider implications These new and relevant findings have led many countries and institutions to release updated and regular guidance for preconception counselling and ART to prevent the sexual transmission of ZIKV. Progress in understanding the sexual transmission of ZIKV and its dissemination to genital systems would also help to better anticipate and control outbreaks of potentially sexually transmissible infectious agents.
Published: 2017

11. Impact of Hodgkin or non-Hodgkin lymphoma and their treatments on sperm aneuploidy: a prospective study by the French CECOS network

Author: Florence Brugnon, Claire Thomas, Marie Walschaerts, Isabelle Berthaut, Remi Borye, Nathalie Rives, Guillaume Martinez, Jacques Auger, Nathalie Moinard, Myriam Daudin, Marine Le Mitouard, Célia Ravel, Sylviane Hennebicq, Jacqueline Saias, Louis Bujan, Ethel Szerman, Centre d'Investigation Clinique - Innovation Technologique - INSERM - CHU de Grenoble (CIC-IT Grenoble (CIT803)), CHU Grenoble-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Groupe de recherche en fertilité humaine ( GRFH), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT), 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), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique, Reproduction et Développement (GReD), 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), Laboratoire BDR CECOS - FIV AMP, CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Gamétogenèse et Qualité du Gamète - ULR 4308 (GQG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université de Lille, CHU Rouen, Normandie Université (NU), Université Joseph Fourier - Grenoble 1 (UJF), AGeing and IMagery (AGIM), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d’Aide à la Procréation, Département de Génétique et Procréation (CECOS), Hôpital Couple Enfant de Grenoble-CHU de Grenoble, Groupe d'Activité de Médecine de la Reproduction [CHU Toulouse] (CECOS Toulouse), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École pratique des hautes études (EPHE), CECOS Midi-Pyrénées, centre de sterilité masculine et équipe d'accueil Fertilité Humaine, Hôpital Paule de Viguier, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], and Université Grenoble Alpes (UGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Grenoble
Subjects: Male, 0301 basic medicine, Oncology, Time Factors, Aneuploidy, CHOP, Procarbazine, Hospitals, University, 0302 clinical medicine, Risk Factors, immune system diseases, hemic and lymphatic diseases, Antineoplastic Combined Chemotherapy Protocols, Longitudinal Studies, Prospective Studies, treatment side effects, In Situ Hybridization, Fluorescence, [SDV.EE]Life Sciences [q-bio]/Ecology, environment, 030219 obstetrics & reproductive medicine, Lymphoma, Non-Hodgkin, non-Hodgkin lymphoma, Obstetrics and Gynecology, Chemoradiotherapy, sperm chromosomes, Hodgkin Disease, Spermatozoa, 3. Good health, Vinblastine, Treatment Outcome, France, medicine.drug, medicine.medical_specialty, Vincristine, Dacarbazine, Biology, sperm aneuploidy, 03 medical and health sciences, Hodgkin, Internal medicine, medicine, Humans, Spermatogenesis, Gynecology, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, medicine.disease, Sperm, Semen Analysis, 030104 developmental biology, Reproductive Medicine, ABVD, Case-Control Studies
Abstract: International audience; OBJECTIVE: To assess sperm production and aneuploidy in Hodgkin lymphoma (HL) and non-Hodgkin lymphoma (NHL) before and after treatments. DESIGN: Multicenter, prospective, longitudinal study of lymphoma patients analyzed before treatment and after 3, 6, 12, and 24 months. SETTING: University hospitals. PATIENT(S): Forty-five HL and 13 NHL patients were investigated before and after treatment. Treatment regimens were classified in two groups: ABVD (doxorubicin, bleomycin, vinblastine, dacarbazine) with or without (+/-) radiotherapy, and CHOP (doxorubicin, cyclophosphamide, vincristine, prednisone)/MOPP-ABV (mechlorethamine, oncovin, procarbazine, prednisone-doxorubicin, bleomycin, vinblastine). A control group of 29 healthy men was also studied. INTERVENTION(S): Semen analyses and aneuploidy study by FISH were performed at each time point. MAIN OUTCOME MEASURE(S): Comparison of mean sperm characteristics and percentage of sperm aneuploidy rates before and after treatment. RESULT(S): Before treatment, HL and NHL men had altered semen characteristics and higher sperm aneuploidy rates (median 0.76 [interquartile range 0.56-0.64]) than the control group (0.54 [0.46-0.74]). After treatment, sperm production was significantly lowered 3 and 6 months after ABVD +/- radiotherapy or CHOP/MOPP-ABV. After ABVD +/- radiotherapy, the aneuploidy rate increased significantly only at 3 months, and values obtained 1 or 2 years later were lower than pretreatment values. In contrast, in the CHOP/MOPP-ABV treatment group, semen characteristics and aneuploidy rate did not return to normal levels until 2 years after treatment. CONCLUSION(S): Lymphoma itself has consequences on sperm aneuploidy frequency before treatment. Moreover, lymphoma treatments have deleterious effects on sperm chromosomes related to treatment type and time since treatment. Patient counseling is essential concerning the transient but significant sperm aneuploidy induced by lymphoma and its treatments.
Published: 2017

12. Identification of genital tract markers in the human seminal plasma using an integrative genomics approach

Author: Thomas Fréour, Régis Lavigne, Jacques Auger, Bertrand Evrard, Charles Pineau, Antoine Rolland, Christine Kervarrec, Pierre Calvel, Nathalie Rioux-Leclercq, Claire Dauly, Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Plateforme Protéomique-Biogenouest (PPB), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Proteomics Core Facility (Protim), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Plateforme Génomique Santé Biogenouest®-Plateforme Génomique Santé Biogenouest®, Thermo Fisher Scientific, Thermo Fisher Scientific Inc., E7-E9, Médecine et Biologie du Développement et de la Reproduction, Centre hospitalier universitaire de Nantes (CHU Nantes), Transcriptional networks in gametogenesis and cancer, Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Conseil Régional de Bretagne, IBiSA, Agence de la Biomédecine, Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Proteomics Core Facility (Protim), Université de Rennes (UR)-Plateforme Génomique Santé Biogenouest®-Plateforme Génomique Santé Biogenouest®, Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Touya, Véronique, Institut de recherche, santé, environnement et travail ( Irset ), Université d'Angers ( UA ) -Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -École des Hautes Études en Santé Publique [EHESP] ( EHESP ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ) -Université des Antilles ( UA ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -École des Hautes Études en Santé Publique [EHESP] ( EHESP ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ) -Université des Antilles ( UA ) -Université d'Angers ( UA ) -Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -École des Hautes Études en Santé Publique [EHESP] ( EHESP ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ) -Université des Antilles ( UA ) -Proteomics Core Facility ( Protim ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Plateforme Génomique Santé Biogenouest®-Plateforme Génomique Santé Biogenouest®, Centre hospitalier universitaire de Nantes ( CHU Nantes ), Service d'anatomie et cytologie pathologiques [Rennes], Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes ( IGDR ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service d'Histologie-Embryologie, Biologie de la Reproduction ( CECOS ), and Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP]
Subjects: Adult, Male, Seminal Plasma Proteins, Semen, Genitalia, Male, Biology, Proteomics, Bioinformatics, Peptide Mapping, Male infertility, 03 medical and health sciences, 0302 clinical medicine, Seminal vesicle, Tandem Mass Spectrometry, medicine, Humans, [SDV.BDLR] Life Sciences [q-bio]/Reproductive Biology, ComputingMilieux_MISCELLANEOUS, Chromatography, High Pressure Liquid, Infertility, Male, 030304 developmental biology, 0303 health sciences, 030219 obstetrics & reproductive medicine, L-Lactate Dehydrogenase, Gene Expression Profiling, Rehabilitation, Obstetrics and Gynecology, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Genomics, medicine.disease, Spermatozoa, Peptide Fragments, Isoenzymes, Gene expression profiling, Phosphoglycerate Kinase, [ SDV.BDLR ] Life Sciences [q-bio]/Reproductive Biology, medicine.anatomical_structure, Reproductive Medicine, Organ Specificity, Proteome, Biomarker (medicine), Genital Diseases, Male, Transketolase, Biomarkers
Abstract: International audience; STUDY QUESTION: Can protein biomarkers of the male genital tract be identified in human seminal plasma? SUMMARY ANSWER: We identified potential biomarkers for each of the organs participating in the secretions of the human seminal plasma. WHAT IS KNOWN ALREADY: The seminal plasma fulfills critical functions for fertility by providing spermatozoa with a protective milieu, promoting their final maturation and modulating the immune responsiveness of the female reproductive tract. It is also considered to be a promising source of biomarkers of male infertility and/or pathologies of the male genital tract. STUDY DESIGN, SIZE, DURATION: This study combines proteomic analyses of normal seminal plasma together with transcriptomic gene expression profiling of human healthy tissues. MATERIALS, SETTING, METHODS: Non-liquefied seminal plasma proteins from a healthy donor were prefractionated using two sequential Proteominer™ libraries. Eight subproteome fractions were collected, trypsin digested and subjected to three successive mass spectrometry analyses for peptide characterization. The list of identified proteins was compared with and merged with other available data sets of the human seminal plasma proteome. The expression of corresponding genes was then investigated using tissue transcriptome profiles to determine where, along the male reproductive tract, these proteins were produced. Finally, tissue specificity of a selected subset of biomarker candidates was validated on human tissues. MAIN RESULTS AND THE ROLE OF CHANCE: We first performed a proteomic analysis of the human seminal plasma and identified 699 proteins. By comparing our protein list with other previous proteomic data sets, we found that 2545 unique proteins have been described so far in the human seminal plasma. We then profiled their expression at the gene level and identified 83 testis, 42 epididymis, 7 seminal vesicle and 17 prostate candidate protein markers. For a subset of testis-specific candidates, i.e. TKTL1, LDHC and PGK2, we further validated their germ cell expression and demonstrated that such markers could distinguish between semen from fertile and infertile men. LIMITATIONS, REASONS FOR CAUTION: While some of the markers we identified are well-known tissue-specific products, further dedicated studies to validate the biomarker status of new candidates will be required. Additionally, whether or not the abundance of these proteins is indeed decreased in some specific pathological situations remains to be determined. WIDER IMPLICATIONS OF THE FINDINGS: Using an integrative genomics approach, we identified biomarker candidates for each of the organs participating in the seminal plasma production. In this study, we essentially focused on germ cell markers and their potential application for the diagnosis of male infertility. Other types of markers also deserve a focused attention given their potential predictive value for various reproductive disorders, notably for prostate cancers. STUDY FUNDING/COMPETING INTEREST(S): This work was supported by the Proteomics Core Facility at Biogenouest and was funded by Conseil Régional de Bretagne, IBiSA and Agence de la Biomédecine grants. The authors declare that there exists a competing financial interest in this work that is related to a patent application on the use of identified germ cell-specific proteins in an antibody-based assay (Fertichip™) to predict the successful testicular biopsy outcomes in human non-obstructive azoospermia.
Published: 2012

13. Binding of sperm protein Izumo1 and its egg receptor Juno drives Cd9 accumulation in the intercellular contact area prior to fusion during mammalian fertilization

Author: Virginie Barraud-Lange, Pierre Soule, Eric Rubinstein, Nicolas Rodriguez, Christine Gourier, Frederic Pincet, Myriam Chalbi, Claude Boucheix, Ahmed Ziyyat, Arnaud Ndzoudi, Benjamin Ravaux, Eric Perez, Jean Philippe Wolf, Kevin Howan, Laboratoire de Physique Statistique de l'ENS (LPS), Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Institut Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Analyse, Interactions Moléculaires et Cellulaires (LBM-E2), Laboratoire des biomolécules (LBM UMR 7203), Université Pierre et Marie Curie - Paris 6 (UPMC)-Département de Chimie - ENS Paris, École normale supérieure - Paris (ENS Paris)-École normale supérieure - Paris (ENS Paris)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Département de Chimie - ENS Paris, École normale supérieure - Paris (ENS Paris)-École normale supérieure - Paris (ENS Paris)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC), Réponses cellulaires au microenvironnement et cancer, Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), CHU Cochin [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Agence Nationale pour la Recherche [ANR-13-BSV5-0004], Pierre Gilles de Gennes fondation, Différenciation hématopoïétique normale et leucémique, Centre Européen de Recherche et de Formation Avancée en Calcul Scientifique (CERFACS), CERFACS, 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 de Recherches sur les lois Fondamentales de l'Univers (IRFU), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Institut de Recherche Dupuy de Lôme (IRDL), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-École Nationale Supérieure de Techniques Avancées Bretagne (ENSTA Bretagne)-Centre National de la Recherche Scientifique (CNRS), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Génomique, Epigénétique et Physiopathologie de la Reproduction, [Institut Cochin] Département Développement, Reproduction et Cancer (DRC), 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)-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)-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 Diderot - Paris 7 (UPD7)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Département de Chimie - ENS Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université de Brest (UBO)-Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure de Techniques Avancées Bretagne (ENSTA Bretagne)-Université de Bretagne Sud (UBS), Laboratoire de Physique Statistique de l'ENS ( LPS ), Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris ( FRDPENS ), École normale supérieure - Paris ( ENS Paris ) -Centre National de la Recherche Scientifique ( CNRS ) -École normale supérieure - Paris ( ENS Paris ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ), Institut Jacques Monod ( IJM ), Université Paris Diderot - Paris 7 ( UPD7 ) -Centre National de la Recherche Scientifique ( CNRS ), Analyse, Interactions Moléculaires et Cellulaires ( LBM-E2 ), Laboratoire des biomolécules ( LBM UMR 7203 ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Département de Chimie - ENS Paris, École normale supérieure - Paris ( ENS Paris ) -École normale supérieure - Paris ( ENS Paris ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Département de Chimie - ENS Paris, École normale supérieure - Paris ( ENS Paris ) -École normale supérieure - Paris ( ENS Paris ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université Pierre et Marie Curie - Paris 6 ( UPMC ), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris-Sud - Paris 11 ( UP11 ), Service d'Histologie-Embryologie, Biologie de la Reproduction ( CECOS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS-PSL), 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)-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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), and École Nationale d'Ingénieurs de Brest (ENIB)-Université de Bretagne Sud (UBS)-Université de Brest (UBO)-École Nationale Supérieure de Techniques Avancées Bretagne (ENSTA Bretagne)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Juno, Izumo1, [PHYS.PHYS.PHYS-BIO-PH]Physics [physics]/Physics [physics]/Biological Physics [physics.bio-ph], Immunoglobulins, Receptors, Cell Surface, Biology, Tetraspanin 29, Mice, 03 medical and health sciences, 0302 clinical medicine, Human fertilization, Cell Adhesion, medicine, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Membrane dynamics, Receptor, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Molecular Biology, 030304 developmental biology, Sperm-Ovum Interactions, 0303 health sciences, Fusion, Microscopy, Confocal, Membrane Proteins, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Adhesion, Membrane organization, CD9, Sperm, Cell biology, Kinetics, medicine.anatomical_structure, Membrane protein, Fertilization, embryonic structures, Gamete, Female, 030217 neurology & neurosurgery, Intracellular, Developmental Biology
Abstract: International audience; Little is known about the molecular mechanisms that induce gamete fusion during mammalian fertilization. After initial contact, adhesion between gametes only leads to fusion in the presence of three membrane proteins that are necessary, but insufficient, for fusion: Izumo1 on sperm, its receptor Juno on egg and Cd9 on egg. What happens during this adhesion phase is a crucial issue. Here, we demonstrate that the intercellular adhesion that Izumo1 creates with Juno is conserved in mouse and human eggs. We show that, along with Izumo1, egg Cd9 concomitantly accumulates in the adhesion area. Without egg Cd9, the recruitment kinetics of Izumo1 are accelerated. Our results suggest that this process is conserved across species, as the adhesion partners, Izumo1 and its receptor, are interchangeable between mouse and human. Our findings suggest that Cd9 is a partner of Juno, and these discoveries allow us to propose a new model of the molecular mechanisms leading to gamete fusion, in which the adhesion-induced membrane organization assembles all key players of the fusion machinery.
Published: 2014

14. In Subfertile Couple, Abdominal Fat Loss in Men Is Associated with Improvement of Sperm Quality and Pregnancy: A Case-Series

Author: Jean Philippe Wolf, Romain Ladouce, Céline Faure, Rachel Levy, Martin A. Baraibar, Charlotte Dupont, Isabelle Cedrin-Durnerin, Service d’Histologie-Embryologie-Cytogénétique-CECOS, Hôpital Jean Verdier [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité de Recherche en Epidémiologie Nutritionnelle, UMR U557 Inserm, U1125 INRA, Cnam, CRNH IdF, Université Paris 13 (UP13), 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), Laboratoire de Biologie Cellulaire du Vieillissement, Université Pierre et Marie Curie - Paris 6 (UPMC), Médecine de la reproduction [Verdier], 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), National Biomedical Research: ALIFERT, École nationale vétérinaire - Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS), Hôpital Jean Verdier [Bondy], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), École nationale vétérinaire d'Alfort (ENVA)-Institut National de la Recherche Agronomique (INRA)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Hôpital Jean Verdier, Université Paris 13 ( UP13 ), Biologie du développement et reproduction ( BDR ), Institut National de la Recherche Agronomique ( INRA ) -Ecole Nationale Vétérinaire d'Alfort-Centre National de la Recherche Scientifique ( CNRS ), Université Pierre et Marie Curie - Paris 6 ( UPMC ), Service d'Histologie-Embryologie, Biologie de la Reproduction ( CECOS ), and Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP]
Subjects: Sexual Reproduction, Male, Anatomy and Physiology, Epidemiology, lcsh:Medicine, Overweight, Antioxidants, Male infertility, 0302 clinical medicine, Reproductive Physiology, Pregnancy, Biologie de la reproduction, Hormone metabolism, fragmentation d'adn, lcsh:Science, media_common, 2. Zero hunger, Reproductive Biology, Family Characteristics, 030219 obstetrics & reproductive medicine, Multidisciplinary, Biologie du développement, Pregnancy Outcome, plasma seminal, Development Biology, Spermatozoa, homme, 3. Good health, [ SDV.BDLR ] Life Sciences [q-bio]/Reproductive Biology, Medicine, Female, medicine.symptom, Oxidation-Reduction, Research Article, Adult, medicine.medical_specialty, Clinical Research Design, media_common.quotation_subject, Urology, Abdominal Fat, 030209 endocrinology & metabolism, Fertility, Semen, Biology, fertilité, 03 medical and health sciences, Internal medicine, medicine, Humans, Metabolomics, Obesity, Nutrition, Population Biology, lcsh:R, Reproductive System, Infant, Newborn, stress oxydatif, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, qualité du sperme, surpoids, medicine.disease, Delivery, Obstetric, Sperm, Hormones, Endocrinology, Fertilization, Infertility, lcsh:Q, humain, Body mass index, Biomarkers, Developmental Biology
Abstract: International audience; Background: The impact of overweight among men of reproductive-age may affect fertility. Abdominal fat, more than body mass index, is an indicator of higher metabolic risk, which seems to be involved in decreasing sperm quality. This study aims to assess the relationship between abdominal fat and sperm DNA fragmentation and the effect of abdominal fat loss, among 6 men in subfertile couples. Methods: Sperm DNA fragmentation, abdominal fat and metabolic and hormonal profiles were measured in the 6 men before and after dietary advices. Seminal oxidative stress and antioxidant markers were determined. Results: After several months of a lifestyle program, all 6 men lost abdominal fat (patient 1: loss of 3 points of abdominal fat, patient 2: loss of 3 points, patient 3: loss of 2 points, patient 4: loss of 1 point, patient 5: loss of 4 points and patient 6: loss of 13 points). At the same time, their rate of sperm DNA fragmentation decreased: 9.5% vs 31%, 24% vs 43%, 18% vs 47%, 26.3% vs 66%, 25.4% vs 35% and 1.7% vs 25%. Also, an improvement in both metabolic (significant decrease in triglycerides and total cholesterol; p = 0.0139) and hormonal (significant increase in testosterone/oestradiol ratio; p = 0.0139) blood profiles was observed after following the lifestyle program. In seminal plasma, the amount of SOD2 has significantly increased (p = 0.0139) while in parallel carbonylated proteins have decreased. Furthermore, all spouses got pregnant. All pregnancies were brought to term. Conclusion: This study shows specifically that sperm DNA fragmentation among men in subfertile couples could be affected by abdominal fat, but improvement of lifestyle factor may correct this alteration. The effect of specific abdominal fat loss on sperm quality needs further investigation. The reduction of oxidative stress may be a contributing factor.
Published: 2014

15. Epigenetic disorders and male subfertility

Author: Céline Chalas Boissonnas, Hélène Jammes, Pierre Jouannet, Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP], Centre de recherche sens, ethique, société (CERSES - UMR 8137), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Biologie du Développement et Reproduction (BDR), Institut National de la Recherche Agronomique (INRA), Assistance Publique-Hopitaux de Paris, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and CHU Cochin [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: Infertility, Male, Embryonic Development, histone, Genome, male infertility, Male infertility, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Humans, Epigenetics, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Infertility, Male, 030304 developmental biology, Genetics, 0303 health sciences, 030219 obstetrics & reproductive medicine, biology, Genetic Diseases, Inborn, Obstetrics and Gynecology, Embryo, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, medicine.disease, 3. Good health, Histone, Fertility, Reproductive Medicine, DNA methylation, biology.protein, Female, spermatozoal rnas, methylation, Genomic imprinting, epigenetic
Abstract: Objective: To provide a link between epigenetics and male subfertility at the DNA, histone-protamine, and RNA levels and its consequences on fertilization and embryo development. Design: Review of the relevant literature. Setting: University-based clinical and research laboratories. Patient(s): Fertile and infertile men. Intervention(s): None. Main Outcome Measure(s): Critical review of the literature. Result(s): Epigenetic markers can be modified in infertile patients. Epigenetic modifications include methylation loss or gain on the global level and on imprinted genes, high levels of histone retention in spermatozoa, and deficiencies in some transcripts involved in spermatogenesis. Interestingly, these abnormalities are all linked together, because DNA methylation maintenance depends on DNA histone-protamine configuration which itself is stabilized by spermatozoal RNAs. Conclusion(s): The paternal genome has long been considered to be silent and passive in embryo formation. The epigenetic processes associated with the paternal DNA genome highlights its importance in male fertility as well as for embryo development.
Published: 2013

16. Mapping Mouse Gamete Interaction Forces Reveal Several Oocyte Membrane Regions with Different Mechanical and Adhesive Properties †

Author: Antoine Jégou, Eric Perez, Jean Philippe Wolf, Frederic Pincet, Christine Gourier, Ahmed Ziyyat, Dynamique du cytosquelette et motilité (ACTIN), Département Biochimie, Biophysique et Biologie Structurale (B3S), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Physique Statistique de l'ENS (LPS), Université Paris Diderot - Paris 7 (UPD7)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Fédération de recherche du Département de physique de l'Ecole Normale Supérieure - ENS Paris (FRDPENS), École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], 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), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)-Université Paris-Saclay-Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)-Université Paris-Saclay-Institut de Biologie Intégrative de la Cellule (I2BC), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)-Université Paris-Saclay-Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)-Université Paris-Saclay, Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), and CHU Cochin [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: Male, Interaction forces, Surface Properties, [PHYS.PHYS.PHYS-BIO-PH]Physics [physics]/Physics [physics]/Biological Physics [physics.bio-ph], Viscoelasticity, Mice, 03 medical and health sciences, 0302 clinical medicine, Spermatocytes, Cell Adhesion, Electrochemistry, medicine, Animals, General Materials Science, Spectroscopy, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Sperm-Ovum Interactions, 0303 health sciences, Spermatozoon, Chemistry, Cell Membrane, Biological membrane, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Surfaces and Interfaces, Condensed Matter Physics, Oocyte, Crystallography, Membrane, medicine.anatomical_structure, Mice, Inbred CBA, Oocytes, Biophysics, Gamete, Female, Stress, Mechanical, Adhesive, 030217 neurology & neurosurgery
Abstract: This study focuses on the interaction involved in the adhesion of mouse gametes and on the mechanical properties of the oocyte membrane. The oocyte has an asymmetrical shape, and its membrane is composed of two distinct areas. One is rich in microvilli, and the other is smoother and without microvilli. With a biomembrane force probe (BFP) adapted to cell-cell measurements, we have quantified the separation forces between a spermatozoon and an oocyte. Microvillar and amicrovillar areas of the oocyte surface have been systematically probed and compared. In addition to a substantial difference in the elastic stiffness of these two regions, the experiments have revealed the presence of two types of membrane domains with different mechanical and adhesive properties, both distributed over the entire oocyte surface (i.e., in both microvillar and amicrovillar regions). If gamete contact occurs in the first type of domain, then the oocyte membrane deforms only elastically under traction. The pull-off forces in these domains are higher in the amicrovillar region. For a spermatozoon contact with the other type of domain, there can be a transition from the elastic to viscoelastic regime, and then tethers are extruded from the oocyte membrane.
Published: 2008

17. Psychopathologie et procréation médicalement assistée : Comment les couples infertiles élaborent-ils la demande d’enfant ?

Author: Jean-Philippe Wolf, Dominique Cabrol, Claire Squires, Jean-Marie Kuntsmann, Pierre Jouannet, Centre de Recherches Psychanalyse, Médecine et Société (CRPMS (EA_3522)), Université Paris Diderot - Paris 7 (UPD7), Centre de recherche sens, ethique, société (CERSES - UMR 8137), Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), IBM Thomas J. Watson Research Center, IBM, Maternité Port-Royal [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Cochin [AP-HP], Centre de Recherches Psychanalyse, Médecine et Société (CRPMS EA 3522), UMR 8137 CERSES, Centre National de la Recherche Scientifique (CNRS), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS), Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Cochin [AP-HP], and CHU Cochin [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)
Subjects: assistance médicale à la procréation, 030219 obstetrics & reproductive medicine, 05 social sciences, Desire of a child, [SHS.PSY]Humanities and Social Sciences/Psychology, Assisted reproductive technology, infertilité, Pediatrics, désir d'enfant, 3. Good health, [SHS]Humanities and Social Sciences, [SHS.PSY] Humanities and Social Sciences/Psychology, 03 medical and health sciences, 0302 clinical medicine, désir d’enfant, Developmental Neuroscience, Infertility, Pediatrics, Perinatology and Child Health, Developmental and Educational Psychology, 0501 psychology and cognitive sciences, Sociology, Life-span and Life-course Studies, Humanities, 050104 developmental & child psychology
Abstract: International audience; Beside traditional medical indications of assistance to procreation, like extreme Fallopian tube sterility or spermatic insufficiencies, new requests of children appear in situations of relative infertility, related to age or close to margins of allowed social standards. However, the more the requests of assisted procreation emanate from extreme existential situations, the more they seem to reveal fragile people; indeed, the psychopathological factoften appears in extreme cases of the social, biological or legal standards... thus the teams of procreation medical assistance are led to be cautiousand submit these requests within a framework where the psychologist and the psychiatrist have their place.; A côté des indications médicales traditionnelles d’aide à la procréation, comme la stérilité tubaire ou les insuffisances spermatiques extrêmes, de nouvelles demandes d’enfants apparaissent dans des situations d’infertilité relatives, liées à l’âge ou bien aux marges des normes sociales admises jusque là. Or, plus les demandes de procréation assistée émanent de situations existentielles extrêmes, plus elles semblent révéler des personnes fragiles ; en effet, le fait psychopathologique apparaît souvent aux limites des normes sociales, biologiques ou juridiques... ainsi les équipes de procréation médicalement assistée sont conduites à s’entourer de précautions et à soumettre ces demandes à un encadrement où le psychologue et le psychiatre ont leur place.
Published: 2008

18. Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia

Author: Thierry Bienvenu, Pierre F. Ray, Nathalie Da Silva, Mathilde Jollivet, Aminata Touré, Pierre Tufféry, Baptiste Rode, Denise Escalier, Gérard Gacon, Emmanuel Dulioust, Frédéric Becq, Jean-Philippe Wolf, Caroline Norez, Thassadite Dirami, Natacha Gaitch, 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 de physiologie et biologie cellulaires (IPBC), Université de Poitiers-Centre National de la Recherche Scientifique (CNRS), Physiopathologie des maladies génétiques d'expression pédiatrique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Biochimie et Génétique Moléculaire, Université Paris Descartes - Paris 5 (UPD5), Molécules Thérapeutiques in silico (MTI), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AGeing and IMagery (AGIM), Centre National de la Recherche Scientifique (CNRS)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Joseph Fourier - Grenoble 1 (UJF)-Université Pierre Mendès France - Grenoble 2 (UPMF), Université Joseph Fourier - Grenoble 1 (UJF), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Morillon, Christelle, Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-École Pratique des Hautes Études (EPHE), 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 de physiologie et biologie cellulaires ( IPBC ), Université de Poitiers-Centre National de la Recherche Scientifique ( CNRS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Université Paris Descartes - Paris 5 ( UPD5 ), Molécules Thérapeutique in silico, Recherche de molécules à visée thérapeutique par approches In Silico ( MTI ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service d'Histologie-Embryologie, Biologie de la Reproduction ( CECOS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], AGeing and IMagery ( AGIM ), Université Pierre Mendès France - Grenoble 2 ( UPMF ) -Université Joseph Fourier - Grenoble 1 ( UJF ) -École pratique des hautes études ( EPHE ) -Centre National de la Recherche Scientifique ( CNRS ), and Université Joseph Fourier - Grenoble 1 ( UJF )
Subjects: Male, MESH : Immunohistochemistry, [SDV]Life Sciences [q-bio], MESH: Cricetinae, Cystic Fibrosis Transmembrane Conductance Regulator, Antiporters, MESH : Antiporters, 0302 clinical medicine, MESH: Cricetulus, Cricetinae, MESH : CHO Cells, Missense mutation, Genetics(clinical), MESH: Animals, MESH : Immunoblotting, Genetics (clinical), Sperm motility, Genetics, MESH: Cystic Fibrosis Transmembrane Conductance Regulator, 0303 health sciences, 030219 obstetrics & reproductive medicine, MESH: Immunoblotting, Chinese hamster ovary cell, MESH: Spermatozoa, MESH : Cricetinae, MESH: Genetic Predisposition to Disease, MESH: Anion Transport Proteins, MESH: Sperm Motility, Immunohistochemistry, Spermatozoa, Cystic fibrosis transmembrane conductance regulator, Transport protein, [SDV] Life Sciences [q-bio], Sulfate Transporters, Asthenozoospermia, MESH: Sperm Capacitation, Sperm Motility, MESH : Asthenozoospermia, MESH : Sperm Capacitation, MESH : Male, Urology, MESH : Cricetulus, Immunoblotting, Anion Transport Proteins, Mutation, Missense, CHO Cells, Biology, 03 medical and health sciences, Cricetulus, MESH: CHO Cells, Capacitation, Report, MESH : Spermatozoa, medicine, Animals, Humans, Genetic Predisposition to Disease, 030304 developmental biology, MESH: Mutation, Missense, MESH: Humans, [ SDV ] Life Sciences [q-bio], business.industry, Activator (genetics), MESH : Cystic Fibrosis Transmembrane Conductance Regulator, MESH : Humans, MESH: Immunohistochemistry, medicine.disease, Sperm, Molecular biology, MESH: Male, MESH: Asthenozoospermia, MESH : Sperm Motility, MESH : Anion Transport Proteins, biology.protein, MESH : Genetic Predisposition to Disease, MESH: Antiporters, MESH : Animals, business, Sperm Capacitation, MESH : Mutation, Missense
Abstract: International audience; The cystic fibrosis transmembrane conductance regulator (CFTR) is present in mature sperm and is required for sperm motility and capacitation. Both these processes are controlled by ions fluxes and are essential for fertilization. We have shown that SLC26A8, a sperm-specific member of the SLC26 family of anion exchangers, associates with the CFTR channel and strongly stimulates its activity. This suggests that the two proteins cooperate to regulate the anion fluxes required for correct sperm motility and capacitation. Here, we report on three heterozygous SLC26A8 missense mutations identified in a cohort of 146 men presenting with asthenozoospermia: c.260G>A (p.Arg87Gln), c.2434G>A (p.Glu812Lys), and c.2860C>T (p.Arg954Cys). These mutations were not present in 121 controls matched for ethnicity, and statistical analysis on a control population of 8,600 individuals (from dbSNP and 1000 Genomes) showed them to be associated with asthenozoospermia with a power > 95%. By cotransfecting Chinese hamster ovary (CHO)-K1 cells with SLC26A8 variants and CFTR, we showed that the physical interaction between the two proteins was partly conserved but that the capacity to activate CFTR-dependent anion transport was completely abolished for all mutants. Biochemical studies revealed the presence of much smaller amounts of protein for all variants, but these amounts were restored to wild-type levels upon treatment with the proteasome inhibitor MG132. Immunocytochemistry also showed the amounts of SLC26A8 in sperm to be abnormally small in individuals carrying the mutations. These mutations might therefore impair formation of the SLC26A8-CFTR complex, principally by affecting SLC26A8 stability, consistent with an impairment of CFTR-dependent sperm-activation events in affected individuals.
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18 results on '"Service d'Histologie-Embryologie, Biologie de la Reproduction (CECOS Paris Cochin)"'

1. Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia

2. Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

3. The Developmental Implications of the Use of Reproductive Technologies for Transgender People: A Comparative Cross-Section Protocol

4. Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

5. Sedentary behavior, physical inactivity and body composition in relation to idiopathic infertility among men and women

6. Identification of a New QTL Region on Mouse Chromosome 1 Responsible for Male Hypofertility: Phenotype Characterization and Candidate Genes

7. Biotechnologies that empower transgender persons to self-actualize as individuals, partners, spouses, and parents are defining new ways to conceive a child: psychological considerations and ethical issues

8. Extended culture of poor-quality supernumerary embryos improves ART outcomes

9. Endocrine Disruptors and Health Effects in Africa: A Call for Action

10. Zika virus and reproduction: facts, questions and current management

11. Impact of Hodgkin or non-Hodgkin lymphoma and their treatments on sperm aneuploidy: a prospective study by the French CECOS network

12. Identification of genital tract markers in the human seminal plasma using an integrative genomics approach

13. Binding of sperm protein Izumo1 and its egg receptor Juno drives Cd9 accumulation in the intercellular contact area prior to fusion during mammalian fertilization

14. In Subfertile Couple, Abdominal Fat Loss in Men Is Associated with Improvement of Sperm Quality and Pregnancy: A Case-Series

15. Epigenetic disorders and male subfertility

16. Mapping Mouse Gamete Interaction Forces Reveal Several Oocyte Membrane Regions with Different Mechanical and Adhesive Properties †

17. Psychopathologie et procréation médicalement assistée : Comment les couples infertiles élaborent-ils la demande d’enfant ?

18. Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia

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