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5 results on '"André Eggen"'

1. Refining the Camelus dromedarius Myostatin Gene Polymorphism through Worldwide Whole-Genome Sequencing

Author

Silvia Bruno, Vincenzo Landi, Gabriele Senczuk, Samantha Ann Brooks, Faisal Almathen, Bernard Faye, Suheil Semir Bechir Gaouar, Mohammed Piro, Kwan Suk Kim, Xavier David, André Eggen, Pamela Burger, and Elena Ciani

Subjects
myostatin, dromedary, single nucleotide polymorphisms, indels, Veterinary medicine, SF600-1100, Zoology, QL1-991
Abstract

Myostatin (MSTN) is a highly conserved negative regulator of skeletal muscle in mammals. Inactivating mutations results in a hyper-muscularity phenotype known as “double muscling” in several livestock and model species. In Camelus dromedarius, the gene structure organization and the sequence polymorphisms have been previously investigated, using Sanger and Next-Generation Sequencing technologies on a limited number of animals. Here, we carried out a follow-up study with the aim to further expand our knowledge about the sequence polymorphisms at the myostatin locus, through the whole-genome sequencing data of 183 samples representative of the geographical distribution range for this species. We focused our polymorphism analysis on the ±5 kb upstream and downstream region of the MSTN gene. A total of 99 variants (77 Single Nucleotide Polymorphisms and 22 indels) were observed. These were mainly located in intergenic and intronic regions, with only six synonymous Single Nucleotide Polymorphisms in exons. A sequence comparative analysis among the three species within the Camelus genus confirmed the expected higher genetic distance of C. dromedarius from the wild and domestic two-humped camels compared to the genetic distance between C. bactrianus and C. ferus. In silico functional prediction highlighted: (i) 213 differential putative transcription factor-binding sites, out of which 41 relative to transcription factors, with known literature evidence supporting their involvement in muscle metabolism and/or muscle development; and (ii) a number of variants potentially disrupting the canonical MSTN splicing elements, out of which two are discussed here for their potential ability to generate a prematurely truncated (inactive) form of the protein. The distribution of the considered variants in the studied cohort is discussed in light of the peculiar evolutionary history of this species and the hypothesis that extremely high muscularity, associated with a homozygous condition for mutated (inactivating) alleles at the myostatin locus, may represent, in arid desert conditions, a clear metabolic disadvantage, emphasizing the thermoregulatory and water availability challenges typical of these habitats.

Published
2022
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2. Correction: Design and Characterization of a 52K SNP Chip for Goats.

Author

Gwenola Tosser-Klopp, Philippe Bardou, Olivier Bouchez, Cédric Cabau, Richard Crooijmans, Yang Dong, Cécile Donnadieu-Tonon, André Eggen, Henri C M Heuven, Saadiah Jamli, Abdullah Johari Jiken, Christophe Klopp, Cynthia T Lawley, John McEwan, Patrice Martin, Carole R Moreno, Philippe Mulsant, Ibouniyamine Nabihoudine, Eric Pailhoux, Isabelle Palhière, Rachel Rupp, Julien Sarry, Brian L Sayre, Aurélie Tircazes, Jun Wang, Wen Wang, Wenguang Zhang, and International Goat Genome Consortium

Subjects
Medicine, Science
Published
2016
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3. Refining the

Author

Silvia, Bruno, Vincenzo, Landi, Gabriele, Senczuk, Samantha Ann, Brooks, Faisal, Almathen, Bernard, Faye, Suheil Semir Bechir, Gaouar, Mohammed, Piro, Kwan Suk, Kim, Xavier, David, André, Eggen, Pamela, Burger, and Elena, Ciani

Abstract

Myostatin (

Published
2022

4. Whole-genome analysis of introgressive hybridization and characterization of the bovine legacy of Mongolian yaks

Author

E. A. Gladyr, André Eggen, Aurélien Capitan, Alexander Graf, Stefan Krebs, Ingolf Russ, Garrett Hellenthal, Sophie Rothammer, Helmut Blum, Natalia A Zinovieva, Johanna Barbieri, Doris Seichter, Ivica Medugorac, Gottfried Brem, Cécile Grohs, Yondon Zagdsuren, Chair of Animal Genetics and Husbandry, Ludwig-Maximilians-Universität München (LMU), Laboratory for Functional Genome Analysis, Gene Center, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Sum, Mongolian Jak Society, Center of Biotechnology and Molecular Diagnostics, L.K. Ernst Institute of Animal Husbandry, Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), École nationale supérieure agronomique de Toulouse [ENSAT]-Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Tierzuchtforschung e.V Munchen, AgriGenomics, Illumina, Genetics Institute, Faculty of Life Sciences, University College London (UCL), Institute of Animal Breeding and Genetics, Department for Biomedical Sciences, University of Veterinary Medicine [Vienna] (Vetmeduni), Allice, Hornout Apisgene, Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire de Toulouse (ENVT), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-École nationale supérieure agronomique de Toulouse [ENSAT]

Subjects
0301 basic medicine, Male, Genotype, [SDV]Life Sciences [q-bio], Population genetics, Introgression, Genomics, interspecific hybridization, Biology, Breeding, Genome, Polymorphism, Single Nucleotide, 03 medical and health sciences, Genetics, Animals, Hybrid, yak, 2. Zero hunger, Haplotype, 0402 animal and dairy science, 04 agricultural and veterinary sciences, 15. Life on land, 040201 dairy & animal science, SNP genotyping, séquence du génome, 030104 developmental biology, Phenotype, Backcrossing, hybridation interspécifique, Hybridization, Genetic, Cattle, Female, Genome-Wide Association Study
Abstract

The yak is remarkable for its adaptation to high altitude and occupies a central place in the economies of the mountainous regions of Asia. At lower elevations, it is common to hybridize yaks with cattle to combine the yak's hardiness with the productivity of cattle. Hybrid males are sterile, however, preventing the establishment of stable hybrid populations, but not a limited introgression after backcrossing several generations of female hybrids to male yaks. Here we inferred bovine haplotypes in the genomes of 76 Mongolian yaks using high-density SNP genotyping and whole-genome sequencing. These yaks inherited ∼1.3% of their genome from bovine ancestors after nearly continuous admixture over at least the last 1,500 years. The introgressed regions are enriched in genes involved in nervous system development and function, and particularly in glutamate metabolism and neurotransmission. We also identified a novel mutation associated with a polled (hornless) phenotype originating from Mongolian Turano cattle. Our results suggest that introgressive hybridization contributed to the improvement of yak management and breeding.

Published
2017
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5. C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle

Author

Sabrina Rodriguez, Erich A. Nigg, Didier Boichard, Joyce El Hokayem, Christine Vesque, Sophie Halliez, Raphaël Guatteo, Geraldine Toutirais, Sébastien Fritz, Sandrine Floriot, Amandine Duchesne, Anthi Karaiskou, Maud Bertaud, Joëlle Sobczak-Thépot, Mohammed Moudjou, Alexandre Vasilescu, Sylvie Schneider-Maunoury, Luc Manciaux, Nora Cesbron, Sarah Barbey, Laurent Schibler, Valérie Cormier-Daire, André Eggen, Mathieu Gautier, Florence Bourgain-Guglielmetti, ProdInra, Archive Ouverte, Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Laboratoire de Biologie du Développement (LBD), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), ERL 1156, Institut National de la Santé et de la Recherche Médicale (INSERM), Plate-forme SIGENAE/Génétique Cellulaire, Institut National de la Recherche Agronomique (INRA), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Biologie pour la Gestion des Populations (UMR CBGP), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut National de la Recherche Agronomique (INRA)-Centre international d'études supérieures en sciences agronomiques (Montpellier SupAgro)-Université de Montpellier (UM)-Institut de Recherche pour le Développement (IRD [France-Sud])-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Domaine Expérimental du Pin (DEP), Département R&D, Allice, Laboratoire d'Analyse Génétique pour les Espèces Animales (LABOGENA), Unité de recherche Virologie et Immunologie Moléculaires (VIM (UR 0892)), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department Biozentrum, University of Basel (Unibas), Centre Européen d'Informatique et d'Automation du Doubs et du Territoire de Belfort (CEIA), Biologie, Epidémiologie et analyse de risque en Santé Animale (BIOEPAR), Institut National de la Recherche Agronomique (INRA)-École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS), Microscopie Electronique [IBPS] (IBPS-ME), Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS), Contrat privé Apisgene, Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), 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 National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Domaine expérimental animal du Pin (SEA), Unité de recherche Virologie et Immunologie Moléculaires (VIM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), UMR 1300 Biologie, Epidémiologie et Analyse du Risque, Institut National de la Recherche Agronomique (INRA)-Ecole Nationale Vétérinaire, Agroalimentaire et de l'alimentation Nantes-Atlantique (ONIRIS)-Biologie, Epidémiologie et Analyse du Risque (BioEpAR)-Santé animale (S.A.), 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 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), Génétique Animale et Biologie Intégrative ( GABI ), Institut National de la Recherche Agronomique ( INRA ) -AgroParisTech, Laboratoire de Biologie du Développement ( LBD ), 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, Institut National de la Recherche Agronomique ( INRA ), Centre de Recherche Saint-Antoine ( CR Saint-Antoine ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre de Biologie pour la Gestion des Populations ( CBGP ), Centre de Coopération Internationale en Recherche Agronomique pour le Développement ( CIRAD ) -Centre international d'études supérieures en sciences agronomiques ( Montpellier SupAgro ) -Institut national de la recherche agronomique [Montpellier] ( INRA Montpellier ) -Université de Montpellier ( UM ) -Institut de Recherche pour le Développement ( IRD [France-Sud] ) -Institut national d’études supérieures agronomiques de Montpellier ( Montpellier SupAgro ), Domaine expérimental animal du Pin ( SEA ), Laboratoire d'Analyse Génétique pour les Espèces Animales ( LABOGENA ), Unité de recherche Virologie et Immunologie Moléculaires ( VIM ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), University of Basel ( Unibas ), Centre Européen d'Informatique et d'Automation du Doubs et du Territoire de Belfort ( CEIA ), Institut National de la Recherche Agronomique ( INRA ) -Ecole Nationale Vétérinaire, Agroalimentaire et de l'alimentation Nantes-Atlantique ( ONIRIS ) -Biologie, Epidémiologie et Analyse du Risque ( BioEpAR ) -Santé animale ( S.A. ), Biologie, Epidémiologie et analyse de risque en Santé Animale ( BIOEPAR ), Microscopie Electronique [IBPS] ( IBPS-ME ), Institut de Biologie Paris Seine ( IBPS ), 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 ) -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 ), and Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)

Subjects
Microcephaly, bovin, Centriole, [SDV]Life Sciences [q-bio], General Physics and Astronomy, Cattle Diseases, Cell Cycle Proteins, Biology, gène CEP250, protéine C-Nap1, anomalie génétique, syndrome de Seckel, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Cell Movement, medicine, Morphogenesis, Animals, 030304 developmental biology, Centrioles, Genetics, Hypopigmentation, 0303 health sciences, Mutation, Multidisciplinary, [ SDV ] Life Sciences [q-bio], Mitotic spindle organization, General Chemistry, Syndrome, medicine.disease, Cilium assembly, Hypoplasia, CEP250, [SDV] Life Sciences [q-bio], Centrosome, Cattle, 030217 neurology & neurosurgery
Abstract

Caprine-like Generalized Hypoplasia Syndrome (SHGC) is an autosomal-recessive disorder in Montbéliarde cattle. Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. Here we show that SHGC is caused by a truncating mutation in the CEP250 gene that encodes the centrosomal protein C-Nap1. This mutation results in centrosome splitting, which neither affects centriole ultrastructure and duplication in dividing cells nor centriole function in cilium assembly and mitotic spindle organization. Loss of C-Nap1-mediated centriole cohesion leads to an altered cell migration phenotype. This discovery extends the range of loci that constitute the spectrum of autosomal primary recessive microcephaly (MCPH) and Seckel-like syndromes., SHGC syndrome affects cattle and has clinical features similar to human Seckel syndrome. Here Floriot et al. identify the causative mutation in the centrosomal protein C-Nap1 that affects centriole cohesion and cell migration, extending the range of loci involved in human Seckel-like syndromes.

Published
2015
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