Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.
Identifieur interne : 000599 ( PubMed/Curation ); précédent : 000598; suivant : 000600Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.
Auteurs : E. Bourneuf [France] ; P. Otz [France] ; H. Pausch [Allemagne] ; V. Jagannathan [Suisse] ; P. Michot [France] ; C. Grohs [France] ; G. Piton [France] ; S. Ammermüller [Allemagne] ; M-C Deloche [France] ; S. Fritz [France] ; H. Leclerc [France] ; C. Péchoux [France] ; A. Boukadiri [France] ; C. Hozé [France] ; R. Saintilan [France] ; F. Créchet [France] ; M. Mosca [France] ; D. Segelke [Allemagne] ; F. Guillaume [France] ; S. Bouet [France] ; A. Baur [France] ; A. Vasilescu [France] ; L. Genestout [France] ; A. Thomas [France] ; A. Allais-Bonnet [France] ; D. Rocha [France] ; M-A Colle [France] ; C. Klopp [France] ; D. Esquerré [France] ; C. Wurmser [Allemagne] ; K. Flisikowski [Allemagne] ; H. Schwarzenbacher [Autriche] ; J. Burgstaller [Autriche] ; M. Brügmann [Allemagne] ; E. Dietschi [Suisse] ; N. Rudolph [Allemagne] ; M. Freick [Allemagne] ; S. Barbey [France] ; G. Fayolle [France] ; C. Danchin-Burge [France] ; L. Schibler [France] ; B. Bed'Hom [France] ; B J Hayes [Australie] ; H D Daetwyler [Australie] ; R. Fries [Allemagne] ; D. Boichard [France] ; D. Pin [France] ; C. Drögemüller [Suisse] ; A. Capitan [France]Source :
- Scientific reports [ 2045-2322 ] ; 2017.
Abstract
In humans, the clinical and molecular characterization of sporadic syndromes is often hindered by the small number of patients and the difficulty in developing animal models for severe dominant conditions. Here we show that the availability of large data sets of whole-genome sequences, high-density SNP chip genotypes and extensive recording of phenotype offers an unprecedented opportunity to quickly dissect the genetic architecture of severe dominant conditions in livestock. We report on the identification of seven dominant de novo mutations in CHD7, COL1A1, COL2A1, COPA, and MITF and exploit the structure of cattle populations to describe their clinical consequences and map modifier loci. Moreover, we demonstrate that the emergence of recessive genetic defects can be monitored by detecting de novo deleterious mutations in the genome of bulls used for artificial insemination. These results demonstrate the attractiveness of cattle as a model species in the post genomic era, particularly to confirm the genetic aetiology of isolated clinical case reports in humans.
DOI: 10.1038/s41598-017-11523-3
PubMed: 28904385
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Klopp</name><affiliation wicri:level="1"><nlm:affiliation>INRA, Sigenae Bioinformatics Group, UR875, 31320, Castanet-Tolosan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INRA, Sigenae Bioinformatics Group, UR875, 31320, Castanet-Tolosan</wicri:regionArea></affiliation></author><author><name sortKey="Esquerre, D" sort="Esquerre, D" uniqKey="Esquerre D" first="D" last="Esquerré">D. Esquerré</name><affiliation wicri:level="1"><nlm:affiliation>GenPhySE, Université de Toulouse, INRA, INPT, INP-ENVT, 31320, Castanet Tolosan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GenPhySE, Université de Toulouse, INRA, INPT, INP-ENVT, 31320, Castanet Tolosan</wicri:regionArea></affiliation></author><author><name sortKey="Wurmser, C" sort="Wurmser, C" uniqKey="Wurmser C" first="C" last="Wurmser">C. Wurmser</name><affiliation wicri:level="1"><nlm:affiliation>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan</wicri:regionArea></affiliation></author><author><name sortKey="Flisikowski, K" sort="Flisikowski, K" uniqKey="Flisikowski K" first="K" last="Flisikowski">K. Flisikowski</name><affiliation wicri:level="1"><nlm:affiliation>Chair of Animal Biotechnology, Technische Universität München, Freising-Weihenstephan, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Chair of Animal Biotechnology, Technische Universität München, Freising-Weihenstephan</wicri:regionArea></affiliation></author><author><name sortKey="Schwarzenbacher, H" sort="Schwarzenbacher, H" uniqKey="Schwarzenbacher H" first="H" last="Schwarzenbacher">H. Schwarzenbacher</name><affiliation wicri:level="1"><nlm:affiliation>ZuchtData GmbH, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>ZuchtData GmbH, Vienna</wicri:regionArea></affiliation></author><author><name sortKey="Burgstaller, J" sort="Burgstaller, J" uniqKey="Burgstaller J" first="J" last="Burgstaller">J. Burgstaller</name><affiliation wicri:level="1"><nlm:affiliation>Clinic for Ruminants, University of Veterinary Medicine Vienna, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Clinic for Ruminants, University of Veterinary Medicine Vienna, Vienna</wicri:regionArea></affiliation></author><author><name sortKey="Brugmann, M" sort="Brugmann, M" uniqKey="Brugmann M" first="M" last="Brügmann">M. 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Rudolph</name><affiliation wicri:level="1"><nlm:affiliation>Landesuntersuchungsanstalt für das Gesundheits- und Veterinärwesen Sachsen, Bahnhofstrasse 60, 04158, Leipzig, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Landesuntersuchungsanstalt für das Gesundheits- und Veterinärwesen Sachsen, Bahnhofstrasse 60, 04158, Leipzig</wicri:regionArea></affiliation></author><author><name sortKey="Freick, M" sort="Freick, M" uniqKey="Freick M" first="M" last="Freick">M. Freick</name><affiliation wicri:level="1"><nlm:affiliation>Veterinary Practice Zettlitz, Strasse der Jugend 68, 09306, Zettlitz, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Veterinary Practice Zettlitz, Strasse der Jugend 68, 09306, Zettlitz</wicri:regionArea></affiliation></author><author><name sortKey="Barbey, S" sort="Barbey, S" uniqKey="Barbey S" first="S" last="Barbey">S. 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Bed'Hom</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Hayes, B J" sort="Hayes, B J" uniqKey="Hayes B" first="B J" last="Hayes">B J Hayes</name><affiliation wicri:level="1"><nlm:affiliation>AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora</wicri:regionArea></affiliation></author><author><name sortKey="Daetwyler, H D" sort="Daetwyler, H D" uniqKey="Daetwyler H" first="H D" last="Daetwyler">H D Daetwyler</name><affiliation wicri:level="1"><nlm:affiliation>AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora</wicri:regionArea></affiliation></author><author><name sortKey="Fries, R" sort="Fries, R" uniqKey="Fries R" first="R" last="Fries">R. Fries</name><affiliation wicri:level="1"><nlm:affiliation>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan</wicri:regionArea></affiliation></author><author><name sortKey="Boichard, D" sort="Boichard, D" uniqKey="Boichard D" first="D" last="Boichard">D. Boichard</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Pin, D" sort="Pin, D" uniqKey="Pin D" first="D" last="Pin">D. Pin</name><affiliation wicri:level="1"><nlm:affiliation>Université de Lyon, Veterinary School of Lyon (VetAgro Sup), UPSP 2011-03-101 Interactions Cellules Environnement, Marcy l'Etoile, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université de Lyon, Veterinary School of Lyon (VetAgro Sup), UPSP 2011-03-101 Interactions Cellules Environnement, Marcy l'Etoile</wicri:regionArea></affiliation></author><author><name sortKey="Drogemuller, C" sort="Drogemuller, C" uniqKey="Drogemuller C" first="C" last="Drögemüller">C. Drögemüller</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern</wicri:regionArea></affiliation></author><author><name sortKey="Capitan, A" sort="Capitan, A" uniqKey="Capitan A" first="A" last="Capitan">A. Capitan</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France. aurelien.capitan@jouy.inra.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28904385</idno><idno type="pmid">28904385</idno><idno type="doi">10.1038/s41598-017-11523-3</idno><idno type="wicri:Area/PubMed/Corpus">000601</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000601</idno><idno type="wicri:Area/PubMed/Curation">000599</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000599</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.</title><author><name sortKey="Bourneuf, E" sort="Bourneuf, E" uniqKey="Bourneuf E" first="E" last="Bourneuf">E. Bourneuf</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Otz, P" sort="Otz, P" uniqKey="Otz P" first="P" last="Otz">P. Otz</name><affiliation wicri:level="1"><nlm:affiliation>Veterinary School of Lyon (VetAgro Sup), Cattle Pathology Unit, Marcy l'Etoile, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Veterinary School of Lyon (VetAgro Sup), Cattle Pathology Unit, Marcy l'Etoile</wicri:regionArea></affiliation></author><author><name sortKey="Pausch, H" sort="Pausch, H" uniqKey="Pausch H" first="H" last="Pausch">H. Pausch</name><affiliation wicri:level="1"><nlm:affiliation>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan</wicri:regionArea></affiliation></author><author><name sortKey="Jagannathan, V" sort="Jagannathan, V" uniqKey="Jagannathan V" first="V" last="Jagannathan">V. Jagannathan</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern</wicri:regionArea></affiliation></author><author><name sortKey="Michot, P" sort="Michot, P" uniqKey="Michot P" first="P" last="Michot">P. Michot</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Grohs, C" sort="Grohs, C" uniqKey="Grohs C" first="C" last="Grohs">C. Grohs</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Piton, G" sort="Piton, G" uniqKey="Piton G" first="G" last="Piton">G. Piton</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Ammermuller, S" sort="Ammermuller, S" uniqKey="Ammermuller S" first="S" last="Ammermüller">S. Ammermüller</name><affiliation wicri:level="1"><nlm:affiliation>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan</wicri:regionArea></affiliation></author><author><name sortKey="Deloche, M C" sort="Deloche, M C" uniqKey="Deloche M" first="M-C" last="Deloche">M-C Deloche</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Fritz, S" sort="Fritz, S" uniqKey="Fritz S" first="S" last="Fritz">S. Fritz</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Leclerc, H" sort="Leclerc, H" uniqKey="Leclerc H" first="H" last="Leclerc">H. Leclerc</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Pechoux, C" sort="Pechoux, C" uniqKey="Pechoux C" first="C" last="Péchoux">C. Péchoux</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Boukadiri, A" sort="Boukadiri, A" uniqKey="Boukadiri A" first="A" last="Boukadiri">A. Boukadiri</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Hoze, C" sort="Hoze, C" uniqKey="Hoze C" first="C" last="Hozé">C. Hozé</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Saintilan, R" sort="Saintilan, R" uniqKey="Saintilan R" first="R" last="Saintilan">R. Saintilan</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Crechet, F" sort="Crechet, F" uniqKey="Crechet F" first="F" last="Créchet">F. Créchet</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Mosca, M" sort="Mosca, M" uniqKey="Mosca M" first="M" last="Mosca">M. Mosca</name><affiliation wicri:level="1"><nlm:affiliation>Université de Lyon, Veterinary School of Lyon (VetAgro Sup), UPSP 2011-03-101 Interactions Cellules Environnement, Marcy l'Etoile, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université de Lyon, Veterinary School of Lyon (VetAgro Sup), UPSP 2011-03-101 Interactions Cellules Environnement, Marcy l'Etoile</wicri:regionArea></affiliation></author><author><name sortKey="Segelke, D" sort="Segelke, D" uniqKey="Segelke D" first="D" last="Segelke">D. Segelke</name><affiliation wicri:level="1"><nlm:affiliation>Vereinigte Informationssysteme Tierhaltung w.V., Verden, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Vereinigte Informationssysteme Tierhaltung w.V., Verden</wicri:regionArea></affiliation></author><author><name sortKey="Guillaume, F" sort="Guillaume, F" uniqKey="Guillaume F" first="F" last="Guillaume">F. Guillaume</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Bouet, S" sort="Bouet, S" uniqKey="Bouet S" first="S" last="Bouet">S. Bouet</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Baur, A" sort="Baur, A" uniqKey="Baur A" first="A" last="Baur">A. Baur</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Vasilescu, A" sort="Vasilescu, A" uniqKey="Vasilescu A" first="A" last="Vasilescu">A. Vasilescu</name><affiliation wicri:level="1"><nlm:affiliation>LABOGENA, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>LABOGENA, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Genestout, L" sort="Genestout, L" uniqKey="Genestout L" first="L" last="Genestout">L. Genestout</name><affiliation wicri:level="1"><nlm:affiliation>LABOGENA, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>LABOGENA, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Thomas, A" sort="Thomas, A" uniqKey="Thomas A" first="A" last="Thomas">A. Thomas</name><affiliation wicri:level="1"><nlm:affiliation>Veterinary School of Lyon (VetAgro Sup), Imaging Department, Marcy l'Etoile, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Veterinary School of Lyon (VetAgro Sup), Imaging Department, Marcy l'Etoile</wicri:regionArea></affiliation></author><author><name sortKey="Allais Bonnet, A" sort="Allais Bonnet, A" uniqKey="Allais Bonnet A" first="A" last="Allais-Bonnet">A. Allais-Bonnet</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Rocha, D" sort="Rocha, D" uniqKey="Rocha D" first="D" last="Rocha">D. Rocha</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Colle, M A" sort="Colle, M A" uniqKey="Colle M" first="M-A" last="Colle">M-A Colle</name><affiliation wicri:level="1"><nlm:affiliation>INRA, UMR703 Animal Pathophysiology and Biotherapy for Muscle and Nervous system Diseases, Atlantic Gene Therapies, Nantes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INRA, UMR703 Animal Pathophysiology and Biotherapy for Muscle and Nervous system Diseases, Atlantic Gene Therapies, Nantes</wicri:regionArea></affiliation></author><author><name sortKey="Klopp, C" sort="Klopp, C" uniqKey="Klopp C" first="C" last="Klopp">C. Klopp</name><affiliation wicri:level="1"><nlm:affiliation>INRA, Sigenae Bioinformatics Group, UR875, 31320, Castanet-Tolosan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INRA, Sigenae Bioinformatics Group, UR875, 31320, Castanet-Tolosan</wicri:regionArea></affiliation></author><author><name sortKey="Esquerre, D" sort="Esquerre, D" uniqKey="Esquerre D" first="D" last="Esquerré">D. Esquerré</name><affiliation wicri:level="1"><nlm:affiliation>GenPhySE, Université de Toulouse, INRA, INPT, INP-ENVT, 31320, Castanet Tolosan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GenPhySE, Université de Toulouse, INRA, INPT, INP-ENVT, 31320, Castanet Tolosan</wicri:regionArea></affiliation></author><author><name sortKey="Wurmser, C" sort="Wurmser, C" uniqKey="Wurmser C" first="C" last="Wurmser">C. Wurmser</name><affiliation wicri:level="1"><nlm:affiliation>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan</wicri:regionArea></affiliation></author><author><name sortKey="Flisikowski, K" sort="Flisikowski, K" uniqKey="Flisikowski K" first="K" last="Flisikowski">K. Flisikowski</name><affiliation wicri:level="1"><nlm:affiliation>Chair of Animal Biotechnology, Technische Universität München, Freising-Weihenstephan, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Chair of Animal Biotechnology, Technische Universität München, Freising-Weihenstephan</wicri:regionArea></affiliation></author><author><name sortKey="Schwarzenbacher, H" sort="Schwarzenbacher, H" uniqKey="Schwarzenbacher H" first="H" last="Schwarzenbacher">H. Schwarzenbacher</name><affiliation wicri:level="1"><nlm:affiliation>ZuchtData GmbH, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>ZuchtData GmbH, Vienna</wicri:regionArea></affiliation></author><author><name sortKey="Burgstaller, J" sort="Burgstaller, J" uniqKey="Burgstaller J" first="J" last="Burgstaller">J. Burgstaller</name><affiliation wicri:level="1"><nlm:affiliation>Clinic for Ruminants, University of Veterinary Medicine Vienna, Vienna, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Clinic for Ruminants, University of Veterinary Medicine Vienna, Vienna</wicri:regionArea></affiliation></author><author><name sortKey="Brugmann, M" sort="Brugmann, M" uniqKey="Brugmann M" first="M" last="Brügmann">M. Brügmann</name><affiliation wicri:level="1"><nlm:affiliation>Lower Saxony State Office for Consumer Protection and Food Safety, Department of Pathology, Oldenburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Lower Saxony State Office for Consumer Protection and Food Safety, Department of Pathology, Oldenburg</wicri:regionArea></affiliation></author><author><name sortKey="Dietschi, E" sort="Dietschi, E" uniqKey="Dietschi E" first="E" last="Dietschi">E. Dietschi</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern</wicri:regionArea></affiliation></author><author><name sortKey="Rudolph, N" sort="Rudolph, N" uniqKey="Rudolph N" first="N" last="Rudolph">N. Rudolph</name><affiliation wicri:level="1"><nlm:affiliation>Landesuntersuchungsanstalt für das Gesundheits- und Veterinärwesen Sachsen, Bahnhofstrasse 60, 04158, Leipzig, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Landesuntersuchungsanstalt für das Gesundheits- und Veterinärwesen Sachsen, Bahnhofstrasse 60, 04158, Leipzig</wicri:regionArea></affiliation></author><author><name sortKey="Freick, M" sort="Freick, M" uniqKey="Freick M" first="M" last="Freick">M. Freick</name><affiliation wicri:level="1"><nlm:affiliation>Veterinary Practice Zettlitz, Strasse der Jugend 68, 09306, Zettlitz, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Veterinary Practice Zettlitz, Strasse der Jugend 68, 09306, Zettlitz</wicri:regionArea></affiliation></author><author><name sortKey="Barbey, S" sort="Barbey, S" uniqKey="Barbey S" first="S" last="Barbey">S. Barbey</name><affiliation wicri:level="1"><nlm:affiliation>INRA, UE0326, Domaine expérimental du Pin-au-Haras, Exmes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INRA, UE0326, Domaine expérimental du Pin-au-Haras, Exmes</wicri:regionArea></affiliation></author><author><name sortKey="Fayolle, G" sort="Fayolle, G" uniqKey="Fayolle G" first="G" last="Fayolle">G. Fayolle</name><affiliation wicri:level="1"><nlm:affiliation>UMOTEST, Ceyzeriat, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>UMOTEST, Ceyzeriat</wicri:regionArea></affiliation></author><author><name sortKey="Danchin Burge, C" sort="Danchin Burge, C" uniqKey="Danchin Burge C" first="C" last="Danchin-Burge">C. Danchin-Burge</name><affiliation wicri:level="1"><nlm:affiliation>Institut de l'Elevage, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut de l'Elevage, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Schibler, L" sort="Schibler, L" uniqKey="Schibler L" first="L" last="Schibler">L. Schibler</name><affiliation wicri:level="1"><nlm:affiliation>ALLICE, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>ALLICE, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Bed Hom, B" sort="Bed Hom, B" uniqKey="Bed Hom B" first="B" last="Bed'Hom">B. Bed'Hom</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Hayes, B J" sort="Hayes, B J" uniqKey="Hayes B" first="B J" last="Hayes">B J Hayes</name><affiliation wicri:level="1"><nlm:affiliation>AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora</wicri:regionArea></affiliation></author><author><name sortKey="Daetwyler, H D" sort="Daetwyler, H D" uniqKey="Daetwyler H" first="H D" last="Daetwyler">H D Daetwyler</name><affiliation wicri:level="1"><nlm:affiliation>AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora</wicri:regionArea></affiliation></author><author><name sortKey="Fries, R" sort="Fries, R" uniqKey="Fries R" first="R" last="Fries">R. Fries</name><affiliation wicri:level="1"><nlm:affiliation>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan</wicri:regionArea></affiliation></author><author><name sortKey="Boichard, D" sort="Boichard, D" uniqKey="Boichard D" first="D" last="Boichard">D. Boichard</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author><author><name sortKey="Pin, D" sort="Pin, D" uniqKey="Pin D" first="D" last="Pin">D. Pin</name><affiliation wicri:level="1"><nlm:affiliation>Université de Lyon, Veterinary School of Lyon (VetAgro Sup), UPSP 2011-03-101 Interactions Cellules Environnement, Marcy l'Etoile, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université de Lyon, Veterinary School of Lyon (VetAgro Sup), UPSP 2011-03-101 Interactions Cellules Environnement, Marcy l'Etoile</wicri:regionArea></affiliation></author><author><name sortKey="Drogemuller, C" sort="Drogemuller, C" uniqKey="Drogemuller C" first="C" last="Drögemüller">C. Drögemüller</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern</wicri:regionArea></affiliation></author><author><name sortKey="Capitan, A" sort="Capitan, A" uniqKey="Capitan A" first="A" last="Capitan">A. Capitan</name><affiliation wicri:level="1"><nlm:affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France. aurelien.capitan@jouy.inra.fr.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas</wicri:regionArea></affiliation></author></analytic><series><title level="j">Scientific reports</title><idno type="eISSN">2045-2322</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In humans, the clinical and molecular characterization of sporadic syndromes is often hindered by the small number of patients and the difficulty in developing animal models for severe dominant conditions. Here we show that the availability of large data sets of whole-genome sequences, high-density SNP chip genotypes and extensive recording of phenotype offers an unprecedented opportunity to quickly dissect the genetic architecture of severe dominant conditions in livestock. We report on the identification of seven dominant de novo mutations in CHD7, COL1A1, COL2A1, COPA, and MITF and exploit the structure of cattle populations to describe their clinical consequences and map modifier loci. Moreover, we demonstrate that the emergence of recessive genetic defects can be monitored by detecting de novo deleterious mutations in the genome of bulls used for artificial insemination. These results demonstrate the attractiveness of cattle as a model species in the post genomic era, particularly to confirm the genetic aetiology of isolated clinical case reports in humans.</div></front></TEI><pubmed><MedlineCitation Status="In-Data-Review" Owner="NLM"><PMID Version="1">28904385</PMID><DateCreated><Year>2017</Year><Month>09</Month><Day>14</Day></DateCreated><DateRevised><Year>2017</Year><Month>09</Month><Day>17</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">2045-2322</ISSN><JournalIssue CitedMedium="Internet"><Volume>7</Volume><Issue>1</Issue><PubDate><Year>2017</Year><Month>Sep</Month><Day>13</Day></PubDate></JournalIssue><Title>Scientific reports</Title><ISOAbbreviation>Sci Rep</ISOAbbreviation></Journal><ArticleTitle>Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.</ArticleTitle><Pagination><MedlinePgn>11466</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/s41598-017-11523-3</ELocationID><Abstract><AbstractText>In humans, the clinical and molecular characterization of sporadic syndromes is often hindered by the small number of patients and the difficulty in developing animal models for severe dominant conditions. Here we show that the availability of large data sets of whole-genome sequences, high-density SNP chip genotypes and extensive recording of phenotype offers an unprecedented opportunity to quickly dissect the genetic architecture of severe dominant conditions in livestock. We report on the identification of seven dominant de novo mutations in CHD7, COL1A1, COL2A1, COPA, and MITF and exploit the structure of cattle populations to describe their clinical consequences and map modifier loci. Moreover, we demonstrate that the emergence of recessive genetic defects can be monitored by detecting de novo deleterious mutations in the genome of bulls used for artificial insemination. These results demonstrate the attractiveness of cattle as a model species in the post genomic era, particularly to confirm the genetic aetiology of isolated clinical case reports in humans.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Bourneuf</LastName><ForeName>E</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>LREG, CEA, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Otz</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Veterinary School of Lyon (VetAgro Sup), Cattle Pathology Unit, Marcy l'Etoile, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pausch</LastName><ForeName>H</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jagannathan</LastName><ForeName>V</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Michot</LastName><ForeName>P</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ALLICE, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Grohs</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Piton</LastName><ForeName>G</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>LREG, CEA, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ammermüller</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Deloche</LastName><ForeName>M-C</ForeName><Initials>MC</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ALLICE, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fritz</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ALLICE, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Leclerc</LastName><ForeName>H</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institut de l'Elevage, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Péchoux</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INRA, MIMA2 MET - Equipe Plateformes, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boukadiri</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hozé</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ALLICE, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Saintilan</LastName><ForeName>R</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ALLICE, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Créchet</LastName><ForeName>F</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>LREG, CEA, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mosca</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Université de Lyon, Veterinary School of Lyon (VetAgro Sup), UPSP 2011-03-101 Interactions Cellules Environnement, Marcy l'Etoile, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Segelke</LastName><ForeName>D</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Vereinigte Informationssysteme Tierhaltung w.V., Verden, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guillaume</LastName><ForeName>F</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bouet</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baur</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ALLICE, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vasilescu</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>LABOGENA, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Genestout</LastName><ForeName>L</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>LABOGENA, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Thomas</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Veterinary School of Lyon (VetAgro Sup), Imaging Department, Marcy l'Etoile, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Allais-Bonnet</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ALLICE, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rocha</LastName><ForeName>D</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Colle</LastName><ForeName>M-A</ForeName><Initials>MA</Initials><AffiliationInfo><Affiliation>INRA, UMR703 Animal Pathophysiology and Biotherapy for Muscle and Nervous system Diseases, Atlantic Gene Therapies, Nantes, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>LUNAM University, Oniris, Nantes-Atlantic National College of Veterinary Medicine, Food science and Engineering, Nantes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Klopp</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>INRA, Sigenae Bioinformatics Group, UR875, 31320, Castanet-Tolosan, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Esquerré</LastName><ForeName>D</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>GenPhySE, Université de Toulouse, INRA, INPT, INP-ENVT, 31320, Castanet Tolosan, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wurmser</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Flisikowski</LastName><ForeName>K</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Chair of Animal Biotechnology, Technische Universität München, Freising-Weihenstephan, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schwarzenbacher</LastName><ForeName>H</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>ZuchtData GmbH, Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Burgstaller</LastName><ForeName>J</ForeName><Initials>J</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-3668-8893</Identifier><AffiliationInfo><Affiliation>Clinic for Ruminants, University of Veterinary Medicine Vienna, Vienna, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brügmann</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Lower Saxony State Office for Consumer Protection and Food Safety, Department of Pathology, Oldenburg, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dietschi</LastName><ForeName>E</ForeName><Initials>E</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-3181-6083</Identifier><AffiliationInfo><Affiliation>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rudolph</LastName><ForeName>N</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Landesuntersuchungsanstalt für das Gesundheits- und Veterinärwesen Sachsen, Bahnhofstrasse 60, 04158, Leipzig, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Freick</LastName><ForeName>M</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Veterinary Practice Zettlitz, Strasse der Jugend 68, 09306, Zettlitz, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barbey</LastName><ForeName>S</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>INRA, UE0326, Domaine expérimental du Pin-au-Haras, Exmes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fayolle</LastName><ForeName>G</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>UMOTEST, Ceyzeriat, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Danchin-Burge</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Institut de l'Elevage, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schibler</LastName><ForeName>L</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>ALLICE, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bed'Hom</LastName><ForeName>B</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hayes</LastName><ForeName>B J</ForeName><Initials>BJ</Initials><AffiliationInfo><Affiliation>AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Queensland Alliance for Agriculture and Food Innovation, Centre for Animal Science, The University of Queensland, Brisbane, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Daetwyler</LastName><ForeName>H D</ForeName><Initials>HD</Initials><AffiliationInfo><Affiliation>AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Applied Systems Biology, La Trobe University, Bundoora, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fries</LastName><ForeName>R</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boichard</LastName><ForeName>D</ForeName><Initials>D</Initials><Identifier Source="ORCID">http://orcid.org/0000-0003-0361-2961</Identifier><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pin</LastName><ForeName>D</ForeName><Initials>D</Initials><Identifier Source="ORCID">http://orcid.org/0000-0001-7424-0013</Identifier><AffiliationInfo><Affiliation>Université de Lyon, Veterinary School of Lyon (VetAgro Sup), UPSP 2011-03-101 Interactions Cellules Environnement, Marcy l'Etoile, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Drögemüller</LastName><ForeName>C</ForeName><Initials>C</Initials><Identifier Source="ORCID">http://orcid.org/0000-0001-9773-522X</Identifier><AffiliationInfo><Affiliation>Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Capitan</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France. aurelien.capitan@jouy.inra.fr.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>ALLICE, Paris, France. aurelien.capitan@jouy.inra.fr.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>09</Month><Day>13</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Sci Rep</MedlineTA><NlmUniqueID>101563288</NlmUniqueID><ISSNLinking>2045-2322</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Dev Dyn. 2008 Feb;237(2):485-93</RefSource><PMID Version="1">18213577</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mamm Genome. 1996 Apr;7(4):317-8</RefSource><PMID Version="1">8661706</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2015 Jun 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Version="1">22174915</PMID></CommentsCorrections></CommentsCorrectionsList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>10</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>08</Month><Day>23</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>9</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>9</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>9</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28904385</ArticleId><ArticleId IdType="doi">10.1038/s41598-017-11523-3</ArticleId><ArticleId IdType="pii">10.1038/s41598-017-11523-3</ArticleId><ArticleId 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