Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle

Mamm Genome. 1998 Mar;9(3):210-3. doi: 10.1007/s003359900727.

Abstract

We have determined the entire myostatin coding sequence for 32 double-muscled cattle sampled from ten European cattle breeds. Seven DNA sequence polymorphisms were identified, of which five would be predicted to disrupt the function of the protein, one is a conservative amino acid substitution, and one a silent DNA sequence variant. Four additional DNA sequence polymorphisms were identified in myostatin intronic sequences. In all but two breeds, all double-muscled animals were either homozygous or compound heterozygotes for one of the five loss-of-function mutations. The absence of obvious loss-of-function mutations in the coding sequence of the two remaining breeds points either towards additional mutations in unexplored segments of the gene, or towards locus heterogeneity of double-muscling.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Animals
  • Cattle
  • Haplotypes
  • Muscle, Skeletal / abnormalities*
  • Musculoskeletal Diseases / genetics*
  • Mutation*
  • Myostatin
  • Transforming Growth Factor beta / genetics*
  • Transforming Growth Factor beta / physiology

Substances

  • Myostatin
  • Transforming Growth Factor beta