title: A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs.
abstract: 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.
authors.affiliation: National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
authors.forename: Dana S
authors.initials: DS
authors.lastname: Mosher
authors.forename: Pascale
authors.initials: P
authors.lastname: Quignon
authors.forename: Carlos D
authors.initials: CD
authors.lastname: Bustamante
authors.forename: Nathan B
authors.initials: NB
authors.lastname: Sutter
authors.forename: Cathryn S
authors.initials: CS
authors.lastname: Mellersh
authors.forename: Heidi G
authors.initials: HG
authors.lastname: Parker
authors.forename: Elaine A
authors.initials: EA
authors.lastname: Ostrander
mesh_terms: D000818:Animals; D020029:Base Pairing / Q000235:genetics; D001483:Base Sequence; D001947:Breeding; D004252:DNA Mutational Analysis; D004285:Dogs; D006239:Haplotypes; D006579:Heterozygote; D040582:Inheritance Patterns / Q000235:genetics; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000254:growth & development* / Q000378:metabolism*; D009154:Mutation / Q000235:genetics*; D055435:Myostatin; D016366:Open Reading Frames / Q000235:genetics; D009929:Organ Size; D010641:Phenotype; D010802:Phylogeny; D011157:Population Dynamics; D012044:Regression Analysis; D012420:Running / Q000502:physiology*; D017384:Sequence Deletion / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics*
chemical_list: D055435:Myostatin; D016212:Transforming Growth Factor beta