Neurocristopathy (NC) was observed in half of the progeny of a mildly affected Montbéliarde bull. In adulthood MC1R D/D & DR DR/+ dominant red animals ( e, f) display substantial variations in colour ranging from a light brown which is close to the MC1R e/e & DR +/+ recessive red coat ( g), to a dark brown close to MC1R D/D & DR +/+ dominant black coat ( h). It emerged in 1980 with the birth of a red mutant heifer (MC1R D/D & DR DR/+) from parents which were homozygous for the dominant black allele (MC1R D/D & DR +/+). Dominant Red ( e– h) is distinct from the traditional recessive red allele of the Melanocortin-1 receptor (MC1R e) found in Holstein. Partial phenotypic reversion consisting in heterochromia irides ( c) or black spots on the ears ( d) are sometimes observed. Clinical features include white coat color ( a), deafness, and “glass-eyes” ( b). Glass-Eyed Albino ( a– d) animals trace back to a mutant heifer born in 1994. 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.īrief overview of the dominant conditions studied. 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. 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. 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. 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. 28 GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.27 School of Applied Systems Biology, La Trobe University, Bundoora, Australia.26 Queensland Alliance for Agriculture and Food Innovation, Centre for Animal Science, The University of Queensland, Brisbane, Australia.25 AgriBio, Centre for AgriBioscience, Biosciences Research, DEDJTR, Bundoora, Australia.23 INRA, UE0326, Domaine expérimental du Pin-au-Haras, Exmes, France.22 Veterinary Practice Zettlitz, Strasse der Jugend 68, 09306, Zettlitz, Germany.21 Landesuntersuchungsanstalt für das Gesundheits- und Veterinärwesen Sachsen, Bahnhofstrasse 60, 04158, Leipzig, Germany.20 Lower Saxony State Office for Consumer Protection and Food Safety, Department of Pathology, Oldenburg, Germany.19 Clinic for Ruminants, University of Veterinary Medicine Vienna, Vienna, Austria.17 Chair of Animal Biotechnology, Technische Universität München, Freising-Weihenstephan, Germany.16 GenPhySE, Université de Toulouse, INRA, INPT, INP-ENVT, 31320, Castanet Tolosan, France.15 INRA, Sigenae Bioinformatics Group, UR875, 31320, Castanet-Tolosan, France.14 LUNAM University, Oniris, Nantes-Atlantic National College of Veterinary Medicine, Food science and Engineering, Nantes, France.13 INRA, UMR703 Animal Pathophysiology and Biotherapy for Muscle and Nervous system Diseases, Atlantic Gene Therapies, Nantes, France.12 Veterinary School of Lyon (VetAgro Sup), Imaging Department, Marcy l'Etoile, France.10 Vereinigte Informationssysteme Tierhaltung w.V., Verden, Germany.9 Université de Lyon, Veterinary School of Lyon (VetAgro Sup), UPSP 1 Interactions Cellules Environnement, Marcy l'Etoile, France.8 INRA, MIMA2 MET - Equipe Plateformes, Jouy-en-Josas, France.7 Institut de l'Elevage, Paris, France.5 Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.4 Chair of Animal Breeding, Technische Universitaet Muenchen, Freising-Weihenstephan, Germany.3 Veterinary School of Lyon (VetAgro Sup), Cattle Pathology Unit, Marcy l'Etoile, France.2 LREG, CEA, Université Paris-Saclay, 78350, Jouy-en-Josas, France.1 GABI, INRA, AgroParisTech, Université Paris-Saclay, 78350, Jouy-en-Josas, France.
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