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 × 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.

DOI: 10.1038/ng1810
0200400600'04'05'06'07'08'09'10'11'12'13'14'15'16'17
Citations per Year

4,714 Citations

Semantic Scholar estimates that this publication has 4,714 citations based on the available data.

See our FAQ for additional information.

Cite this paper

@article{Clop2006AMC, title={A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects muscularity in sheep}, author={Alex Clop and F. Marcq and Haruko Takeda and Dimitri Pirottin and Xavier Tordoir and Bernard Bib{\'e} and Jacques Bouix and Florian Caiment and Jean-Michel Elsen and Francis Eychenne and Catherine Larzul and {\'E}lisabeth Laville and Françoise Meish and Dragan Milenkovi{\'c} and James Tobin and Carole Charlier and Michel Georges}, journal={Nature Genetics}, year={2006}, volume={38}, pages={813-818} }