Cited by 1,260Genetic and phenotypic traits in livestockMuscle Physiology and DisordersGenetics and Physical Performance

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A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep

Clop, Alex, Marcq, Fabienne, Takeda, Haruko, Pirottin, Dimitri, Tordoir, Xavier, Bibé, Bernard, Bouix, Jacques, Caiment, Florian, Elsen, Jean-Michel, Eychenne, Francis, Larzul, Catherine, Laville, Elisabeth, Meish, Françoise, Milenkovic, Dragan, Tobin, James, Charlier, Carole, Georges, Michel·2006·Nature Genetics

DOI 10.1038/ng1810

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Abstract

Texel sheep are renowned for their exceptional meatiness. To identify the genes underlying this economically important feature, we performed a whole-genome scan in a Romanov x Texel F2 population. We mapped a quantitative trait locus with a major effect on muscle mass to chromosome 2 and subsequently fine-mapped it to a chromosome interval encompassing the myostatin (GDF8) gene. We herein demonstrate that the GDF8 allele of Texel sheep is characterized by a G to A transition in the 3' UTR that creates a target site for mir1 and mir206, microRNAs (miRNAs) that are highly expressed in skeletal muscle. This causes translational inhibition of the myostatin gene and hence contributes to the muscular hypertrophy of Texel sheep. Analysis of SNP databases for humans and mice demonstrates that mutations creating or destroying putative miRNA target sites are abundant and might be important effectors of phenotypic variation.

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Authors: Clop, A., Marcq, F., Takeda, H., Pirottin, D., Tordoir, X., Bibé, B., Bouix, J., Caiment, F., Elsen, J.-M., Eychenne, F., Larzul, C., Laville, E., Meish, F., Milenkovic, D., Tobin, J., Charlier, C., & Georges, M.
Affiliations: University of Liège (BE)
Institut National de la Recherche Agronomique (FR)
Wyeth (US)
Corresponding author: Georges, Michel
ORCID: Clop, Alex
Takeda, Haruko
Caiment, Florian
Elsen, Jean-Michel
Larzul, Catherine
Charlier, Carole
Georges, Michel
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2006-06-04
Volume: 38
Issue: 7
Pages: 813-818
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1810
OpenAlex: W2134406094
Cited by: 1,260
References: 21
Citations by year: 2026: 18 · 2025: 22 · 2024: 34 · 2023: 40 · 2022: 55 · 2021: 42 · 2020: 46 · 2019: 53 · 2018: 55 · 2017: 51 · 2016: 62 · 2015: 88 · 2014: 90 · 2013: 86 · 2012: 77
FWCI: 53.53
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
HAL (submittedVersion)
ORBi (University of Liège) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
Keywords: myostatin, Texel, muscle mass, microRNA binding sites, 3' UTR mutations, miR-1, miR-206, protein synthesis inhibition, muscle hypertrophy, quantitative trait loci, fine mapping, meatiness, SNP database
MeSH terms: Animals, Binding Sites, Chromosome Mapping, Humans, Hypertrophy, Mutation, Sheep, Transforming Growth Factor beta, Muscle, Skeletal, Polymorphism, Single Nucleotide, MicroRNAs, Quantitative Trait Loci, Mice, Myostatin

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A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep

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