The DOI matches its Crossref record; 20 of the 21 references it cites were found in a registry or an index.
A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep
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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“The function of MSTN has been strongly conserved through evolution, as targeted or naturally occurring mutations in cattle (3–5), sheep (6), dogs (7), rabbits (8), rats (9), swine (10), and goats (11) have all been shown to lead to increased muscling.”
From Targeting myostatin/activin A protects against skeletal muscle and bone loss during spaceflight (2020) · cites this paper as [6]
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Self-citationRibo-gnome: The Big World of Small RNAs
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MicroRNAs: Target Recognition and Regulatory Functions
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Esteller, M. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3074 · Cited by 4,825
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Kloosterman, W. P., & Plasterk, R. H. A. (2006) · Developmental Cell · doi:10.1016/j.devcel.2006.09.009 · Cited by 2,082
The evolution of gene regulation by transcription factors and microRNAs
Chen, K., & Rajewsky, N. (2007) · Nature Reviews Genetics · doi:10.1038/nrg1990 · Cited by 1,547
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Metadata
- 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
- Venue
- Nature Genetics
- Published
- 2006-06-04
- Volume
- 38
- Issue
- 7
- Pages
- 813-818
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- 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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