a mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs肌肉生长抑制素基因的突变会增加肌肉质量和提高赛车性能的杂合子狗.pdfVIP

A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs 1 1 2 1 3 1 Dana S. Mosher , Pascale Quignon , Carlos D. Bustamante , Nathan B. Sutter , Cathryn S. Mellersh , Heidi G. Parker , 1* Elaine A. Ostrander 1 National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, 2 Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York, United States of America, 3 Animal Health Trust, Center for Preventive Medicine, Newmarket, United Kingdom Double muscling is a trait previously described in several mammalian species including cattle and sheep and is caused by mutations in the myostatin (MSTN) gene (previously referred to as GDF8). Here we describe a new mutation in MSTN found in the whippet dog breed that results in a double-muscled phenotype known as the ‘‘bully’’ whippet. Individuals with this phenotype carry two copies of a two-base-pair deletion in the third exon of MSTN leading to a premature stop codon at amino acid 313. Individuals carrying only one copy of the mutation are, on average, more muscular than wild- type individuals (p ¼ 7.43 3 106; Kruskal-Wallis Test) and are significantly faster than individuals carrying the wild- type genotype in competitive racing events (Kendall’s nonparametric measure, s ¼ 0.3619; p ’ 0.00028). These results highlight the utility of performance-enhancing polymorphisms, marking the first time a mutation in MSTN has been quantitatively linked to increased athletic performance. Citation: Mosher DS, Quignon P, Bustamante CD, Sutter NB, Mellersh CS, et al. (2007) A mutation in the myostatin gene increases muscle mass and enhances racing performance in h