A Mutation in the Myostatin Gene Increases Muscle Mass and Enhances Racing Performance in Heterozygote Dogs

PLoS Genet. 2007 May 25;3(5):e79. doi: 10.1371/journal.pgen.0030079. Epub 2007 Apr 30.

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.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Animals
  • Base Pairing / genetics
  • Base Sequence
  • Breeding
  • DNA Mutational Analysis
  • Dogs
  • Haplotypes
  • Heterozygote*
  • Inheritance Patterns / genetics
  • Molecular Sequence Data
  • Muscle, Skeletal / growth & development*
  • Muscle, Skeletal / metabolism*
  • Mutation / genetics*
  • Myostatin
  • Open Reading Frames / genetics
  • Organ Size
  • Phenotype
  • Phylogeny
  • Population Dynamics
  • Regression Analysis
  • Running / physiology*
  • Sequence Deletion / genetics
  • Transforming Growth Factor beta / genetics*

Substances

  • Myostatin
  • Transforming Growth Factor beta

Associated data

  • GENBANK/AY367768
  • RefSeq/NP_01002959