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dc.contributor.author
Bourneuf, Emmanuelle
dc.contributor.author
Otz, Pauline
dc.contributor.author
Pausch, Hubert
dc.contributor.author
Jagannathan, Vidhya
dc.contributor.author
Michot, P.
dc.contributor.author
Grohs, Cécile
dc.contributor.author
Piton, G.
dc.contributor.author
Ammermüller, Simon
dc.contributor.author
Deloche, M.-C.
dc.contributor.author
Fritz, Sébastien
dc.contributor.author
Leclerc, H.
dc.contributor.author
Péchoux, C.
dc.contributor.author
Boukadiri, Abdelhak
dc.contributor.author
Hozé, Chris
dc.contributor.author
Saintilan, Romain
dc.contributor.author
Créchet, F.
dc.contributor.author
Mosca, M.
dc.contributor.author
Segelke, Dierck
dc.contributor.author
Guillaume, F.
dc.contributor.author
Bouet, S.
dc.contributor.author
Baur, A.
dc.contributor.author
Vasilescu, Alexandre
dc.contributor.author
Genestout, Lucie
dc.contributor.author
Thomas, A.
dc.contributor.author
Allais-Bonnet, Aurélie
dc.contributor.author
Rocha, Dominique
dc.contributor.author
Colle, M.-A.
dc.contributor.author
Klopp, Christophe
dc.contributor.author
Esquerré, Diane
dc.contributor.author
Wurmser, Christine
dc.contributor.author
Flisikowski, Krzysztof
dc.contributor.author
Schwarzenbacher, Hermann
dc.contributor.author
Burgstaller, Johann
dc.contributor.author
Brügmann, Michael
dc.contributor.author
Dietschi, Elisabeth
dc.contributor.author
Rudolph, N.
dc.contributor.author
Freick, Markus
dc.contributor.author
Barbey, Sarah
dc.contributor.author
Fayolle, Guillaume
dc.contributor.author
Danchin-Burge, Coralie
dc.contributor.author
Schibler, Laurent
dc.contributor.author
Bed’Hom, Bertrand
dc.contributor.author
Hayes, B.J.
dc.contributor.author
Daetwyler, Hans D.
dc.contributor.author
Fries, Ruedi
dc.contributor.author
Boichard, Didier
dc.contributor.author
Pin, Didier
dc.contributor.author
Drögemüller, Cord
dc.contributor.author
Capitan, Aurélien
dc.date.accessioned
2018-01-17T15:36:21Z
dc.date.available
2017-09-13T18:07:26Z
dc.date.available
2017-09-15T15:39:25Z
dc.date.available
2018-01-17T15:36:21Z
dc.date.issued
2017
dc.identifier.other
10.1038/s41598-017-11523-3
en_US
dc.identifier.uri
http://hdl.handle.net/20.500.11850/184739
dc.identifier.doi
10.3929/ethz-b-000184739
dc.description.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.
en_US
dc.language.iso
en
en_US
dc.publisher
Nature Publishing Group
en_US
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/
dc.subject
Animal breeding
en_US
dc.subject
Clinical genetics
en_US
dc.subject
Genome-wide association studies
en_US
dc.subject
Neural tube defects
en_US
dc.subject
Next-generation sequencing
en_US
dc.title
Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species
en_US
dc.type
Journal Article
dc.rights.license
Creative Commons Attribution 4.0 International
dc.date.published
2017-09-13
ethz.journal.title
Scientific Reports
ethz.journal.volume
7
en_US
ethz.journal.issue
1
en_US
ethz.pages.start
11466
en_US
ethz.size
19 p.
en_US
ethz.version.deposit
publishedVersion
en_US
ethz.publication.place
London
en_US
ethz.publication.status
published
en_US
ethz.leitzahl
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02350 - Dep. Umweltsystemwissenschaften / Dep. of Environmental Systems Science::02703 - Institut für Agrarwissenschaften / Institute of Agricultural Sciences::09575 - Pausch, Hubert / Pausch, Hubert
en_US
ethz.leitzahl.certified
ETH Zürich::00002 - ETH Zürich::00012 - Lehre und Forschung::00007 - Departemente::02350 - Dep. Umweltsystemwissenschaften / Dep. of Environmental Systems Science::02703 - Institut für Agrarwissenschaften / Institute of Agricultural Sciences::09575 - Pausch, Hubert / Pausch, Hubert
en_US
ethz.date.deposited
2017-09-13T18:07:27Z
ethz.source
FORM
ethz.eth
yes
en_US
ethz.availability
Open access
en_US
ethz.rosetta.installDate
2017-09-15T15:39:32Z
ethz.rosetta.lastUpdated
2019-01-02T11:25:14Z
ethz.rosetta.exportRequired
true
ethz.rosetta.versionExported
true
ethz.COinS
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