Mammalian Genome

, Volume 14, Issue 6, pp 392–395

Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin gene

  • Cinzia Marchitelli
  • Maria Carmela Savarese
  • Alessandra Crisà
  • Alessandro Nardone
  • Paolo Ajmone Marsan
  • Alessio Valentini
Original Contributions

DOI: 10.1007/s00335-002-2176-5

Cite this article as:
Marchitelli, C., Savarese, M.C., Crisà, A. et al. Mammalian Genome (2003) 14: 392. doi:10.1007/s00335-002-2176-5

Abstract

Double muscling is a partially recessive trait present in some beef breeds. It shows a high frequency in some breeds, while in others the frequency is low, and double-muscled individuals are rare. The double muscling is caused by an allelic series of mutations that cause a loss of function of the myostatin gene (GDF8). We describe here a new mutation in the myostatin gene in Marchigiana breed, a typical beef breed of Central Italy, in which rare double-muscling individuals have been described. A PCR product of the third exon was sequenced in subjects phenotypically showing double muscling, and a G > T transversion was discovered that introduces a premature stop codon. The variant found adds to the large series of mutations present in cattle, and particularly to the only two causative of double muscling in the third exon. A PCR-RFLP test is described for the rapid and effective identification of both heterozygous and homozygous subjects. It was applied to a larger survey carried on the same and also in two other beef breeds, Chianina and Romagnola. Further individuals carrying the new variant were found in Marchigiana, but none in the other breeds. The results may be important for a better comprehension of the role of myostatin in muscular development, for commercial use and for the inference of phylogeny of this gene.

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Cinzia Marchitelli
    • 1
  • Maria Carmela Savarese
    • 1
  • Alessandra Crisà
    • 1
  • Alessandro Nardone
    • 1
  • Paolo Ajmone Marsan
    • 2
  • Alessio Valentini
    • 1
  1. 1.Dipartimento di Produzioni AnimaliUniversità della TusciaViterboItaly
  2. 2.Istituto di ZootecnicaUniversità Cattolica del S. CuorePiacenzaItaly