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Journal Articles Scientific Reports Year : 2017

Rapid discovery of de novo deleterious mutations in cattle enhances the value of livestock as model species

1 GABI - Génétique Animale et Biologie Intégrative
2 Université Paris-Saclay
3 LREG - Laboratoire de radiobiologie et d'étude du génome
4 ENVL - Ecole Nationale Vétérinaire de Lyon
5 Chair of Animal Breeding
6 Institute of Genetics - Vetsuisse Faculty
7 Allice
8 Laboratoire de Radiobiologie et d'Etude de Génome
9 IDELE - Institut de l'élevage
10 ICE - Interactions Cellules Environnement - UR
11 VIT - Vereinigte Informationssysteme Tierhaltung
12 LABOGENA - Laboratoire d'Analyse Génétique pour les Espèces Animales
13 Imaging Department
14 PAnTher - Physiopathologie Animale et bioThérapie du muscle et du système nerveux
15 Nantes-Atlantic National College of Veterinary Medicine, Food science and Engineering
16 ONIRIS - École nationale vétérinaire, agroalimentaire et de l'alimentation Nantes-Atlantique
17 MIAT INRA - Unité de Mathématiques et Informatique Appliquées de Toulouse
18 GenPhySE - Génétique Physiologie et Systèmes d'Elevage
19 Chair of Animal Biotechnology
20 ZuchtData EDV-Dienstleistungen GmbH
21 Clinic for Ruminants
22 Department of Pathology
23 Landesuntersuchungsanstalt für das Gesundheits- und Veterinärwesen Sachsen
24 Veterinary Practice Zettlitz
25 DEP - Domaine Expérimental du Pin
26 UMOTEST - Union Montbéliarde de Testage
27 Centre for AgriBioscience, Biosciences Research
28 Queensland Alliance for Agriculture and Food Innovation - Centre for Animal Science
29 Centre for AgriBioscience - Biosciences Research
30 School of Applied Systems Biology
Marion Mosca
A. Thomas
Sarah Barbey
L. Schibler
  • Function : Author
R Fries
  • Function : Author
Didier Pin
  • Function : Author
  • PersonId : 969792


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.
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hal-01608270 , version 1 (26-05-2020)





Emmanuelle Bourneuf, P. Otz, H. Pausch, V. Jagannathan, Pauline Michot, et al.. Rapid discovery of de novo deleterious mutations in cattle enhances the value of livestock as model species. Scientific Reports, 2017, 7 (1), pp.11466. ⟨10.1038/s41598-017-11523-3⟩. ⟨hal-01608270⟩
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