Rapid Discovery of de Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species

Bourneuf, E., Otz, P., Pausch, H., Jagannathan, V., Michot, P., Grohs, C., Piton, G., Ammermüller, S., Deloche, M. C., Fritz, S., Leclerc, H., Péchoux, C., Boukadiri, A., Hozé, C., Saintilan, R., Créchet, F., Mosca, M., Segelke, D., Guillaume, F., Bouet, S., Baur, A., Vasilescu, A., Genestout, L., Thomas, A., Allais-Bonnet, A., Rocha, D., Colle, M. A., Klopp, C., Esquerré, D., Wurmser, C., Flisikowski, K., Schwarzenbacher, H., Burgstaller, J., Brügmann, M., Dietschi, E., Rudolph, N., Freick, M., Barbey, S., Fayolle, G., Danchin-Burge, C., Schibler, L., Bed'hom, B., Hayes, B. J., Daetwyler, H. D., Fries, R., Boichard, D., Pin, D., Drögemüller, C. and Capitan, A. (2017) Rapid Discovery of de Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species. Scientific Reports, 7 1: . doi:10.1038/s41598-017-11523-3

Author Bourneuf, E.
Otz, P.
Pausch, H.
Jagannathan, V.
Michot, P.
Grohs, C.
Piton, G.
Ammermüller, S.
Deloche, M. C.
Fritz, S.
Leclerc, H.
Péchoux, C.
Boukadiri, A.
Hozé, C.
Saintilan, R.
Créchet, F.
Mosca, M.
Segelke, D.
Guillaume, F.
Bouet, S.
Baur, A.
Vasilescu, A.
Genestout, L.
Thomas, A.
Allais-Bonnet, A.
Rocha, D.
Colle, M. A.
Klopp, C.
Esquerré, D.
Wurmser, C.
Flisikowski, K.
Schwarzenbacher, H.
Burgstaller, J.
Brügmann, M.
Dietschi, E.
Rudolph, N.
Freick, M.
Barbey, S.
Fayolle, G.
Danchin-Burge, C.
Schibler, L.
Bed'hom, B.
Hayes, B. J.
Daetwyler, H. D.
Fries, R.
Boichard, D.
Pin, D.
Drögemüller, C.
Capitan, A.
Title Rapid Discovery of de Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species
Journal name Scientific Reports   Check publisher's open access policy
ISSN 2045-2322
Publication date 2017-12-15
Year available 2017
Sub-type Article (original research)
DOI 10.1038/s41598-017-11523-3
Open Access Status DOI
Volume 7
Issue 1
Total pages 19
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Subject 1000 General
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.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
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