Bourneuf, E; Otz, P; Pausch, H; Jagannathan, Vidhya; 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; ... (2017). Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species. Scientific Reports, 7(1), p. 11466. Nature Publishing Group 10.1038/s41598-017-11523-3
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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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) |
UniBE Contributor: |
Jagannathan, Vidya, Dietschi, Elisabeth, Drögemüller, Cord |
Subjects: |
500 Science > 570 Life sciences; biology 500 Science > 590 Animals (Zoology) 600 Technology > 610 Medicine & health 600 Technology > 630 Agriculture |
ISSN: |
2045-2322 |
Publisher: |
Nature Publishing Group |
Language: |
English |
Submitter: |
Cord Drögemüller |
Date Deposited: |
20 Nov 2017 16:55 |
Last Modified: |
05 Dec 2022 15:07 |
Publisher DOI: |
10.1038/s41598-017-11523-3 |
PubMed ID: |
28904385 |
BORIS DOI: |
10.7892/boris.105486 |
URI: |
https://boris.unibe.ch/id/eprint/105486 |
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