Mammalian Genome

, Volume 14, Issue 6, pp 392–395 | Cite as

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


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.


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  1. 1.
    Arnold H, Della-Fera MA, Baile CA (2001) Review of myostatin history, physiology and applications. available: 1, 1014–1022Google Scholar
  2. 2.
    Arthur PF (1995) Double muscling in cattle: a review. Aust J Agric Res 46, 1493–1515CrossRefGoogle Scholar
  3. 3.
    Borgioli E, Olivetti A (1975) Razza bovina Chianina. Bologna, Italy: EdagricoleGoogle Scholar
  4. 4.
    Falaschini A (1974) Razza bovina Marchigiana. Bologna, Italy: EdagricoleGoogle Scholar
  5. 5.
    Grobet L, Royo-Martin LJ, Poncelet D, Pirottin D, Brouwers B et al. (1997) A deletion in the myostatin gene causes double-muscling in cattle. Nat Genet 17, 71–74PubMedCrossRefGoogle Scholar
  6. 6.
    Grobet L, Poncelet D, Royo JL, Brouwers B, Pirottin et al. (1998) Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle. Mamm Genome 9, 210–213PubMedCrossRefGoogle Scholar
  7. 7.
    Kambadur R, Sharma M, Smith TPL, Bass JJ (1997) Mutations in myostatin (GDF-8) in double muscled Belgian Blue and Piedmontese cattle. Genome Res 7, 910–915PubMedGoogle Scholar
  8. 8.
    Karim L, Coppieters W, Grobet L, Valentini A, Georges M (2001) Convenient genotyping of six myostatin mutations causing double-muscling in cattle using a multiplex oligonucleotide ligation assay. Anim Genet 31, 396–399CrossRefGoogle Scholar
  9. 9.
    Lee SJ, McPherron AC (2001) Regulation of myostatin activity and muscle growth. Proc Natl Acad Sci USA 98, 9306–9311PubMedCrossRefGoogle Scholar
  10. 10.
    Marchi E, Mascheroni E (1925) Zootecnia speciale Nuova Enciclopedia Agraria Italiana. Vol. 2. Torino, Italy, UTET.Google Scholar
  11. 11.
    McPherron AC, Lee SJ (1997) Double muscling in cattle due to mutations in the myostatin gene. Proc Natl Acad Sci USA 94, 12457–12461PubMedCrossRefGoogle Scholar
  12. 12.
    McPherron AC, Lawer AM, Lee SJ (1997) Regulation of skeletal muscle mass in mice by a new TGF-β superfamily member. Nature 387, 83–90PubMedCrossRefGoogle Scholar
  13. 13.
    Menissier F (1982) Present state of knowledge about the genetic determination of muscular hypertrophy or the double muscled trait in cattle. In Curr Top Vet Med Anim Sci 16, 387–428Google Scholar
  14. 14.
    Smith JA, Lewis AM, Wiener P, Williams JL (2000) Genetic variation in the bovine myostatin gene in UK beef cattle: allelic frequencies and haplotype analysis in the South Devon. Anim Genet 31, 306–309PubMedCrossRefGoogle Scholar
  15. 15.
    Thomas M, Langley B, Berry C, Sharma M, Kirk S et al. (2000) Myostatin, a negative regulator of muscle growth, functions by inhibiting myoblast proliferation. J Biol Chem 275, 40235–40245PubMedCrossRefGoogle Scholar

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

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