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Mamm Genome. 1998 Mar;9(3):210-3.

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

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Department of Genetics, Faculty of Veterinary Medicine, University of Liège (B43), Belgium.


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.

[Indexed for MEDLINE]

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