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Muscular Hypertrophy

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Muscular Hypertrophy
Mutation
c.939_940delTG
Test Type
Other Genetic Traits
Details
Muscular Hypertrophy, also known as double muscling is caused by mutations in the myostatin (MSTN) gene. Dogs with one copy of the mutation are, on average, more muscular and significantly faster.
Details 2
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 = 7.43 x 10(-6); Kruskal-Wallis Test) and are significantly faster than individuals carrying the wild-type genotype in competitive racing events (Kendall's nonparametric measure, tau = 0.3619; p approximately 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. (Mosher et al, 2007)
Published
Mosher, DS., Quignon, P., Bustamante, CD., Sutter, NB., Mellersh, CS., Parker, HG., Ostrander, EA. : A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PLoS Genet 3:e79, 2007. Pubmed reference: 17530926. DOI: 10.1371/journal.pgen.0030079.
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