Identification of genetic elements in metabolism by high-throughput mouse phenotyping

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F18%3A00486935" target="_blank" >RIV/68378050:_____/18:00486935 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1038/s41467-017-01995-2" target="_blank" >http://dx.doi.org/10.1038/s41467-017-01995-2</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41467-017-01995-2" target="_blank" >10.1038/s41467-017-01995-2</a>

Result language

angličtina

Original language name

Identification of genetic elements in metabolism by high-throughput mouse phenotyping

Original language description

Metabolic diseases are a worldwide problem but the underlying genetic factors and their relevance to metabolic disease remain incompletely understood. Genome-wide research is needed to characterize so-far unannotated mammalian metabolic genes. Here, we generate and analyze metabolic phenotypic data of 2016 knockout mouse strains under the aegis of the International Mouse Phenotyping Consortium (IMPC) and find 974 gene knockouts with strong metabolic phenotypes. 429 of those had no previous link to metabolism and 51 genes remain functionally completely unannotated. We compared human orthologues of these uncharacterized genes in five GWAS consortia and indeed 23 candidate genes are associated with metabolic disease. We further identify common regulatory elements in promoters of candidate genes. As each regulatory element is composed of several transcription factor binding sites, our data reveal an extensive metabolic phenotype-associated network of coregulated genes. Our systematic mouse phenotype analysis thus paves the way for full functional annotation of the genome.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10620 - Other biological topics

Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Nature Communications

ISSN

2041-1723

e-ISSN

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Volume of the periodical

9

Issue of the periodical within the volume

zima

Country of publishing house

GB - UNITED KINGDOM

Number of pages

16

Pages from-to

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UT code for WoS article

000422745800023

EID of the result in the Scopus database

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