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-offunction 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.
Both authors have contributed equally to this work.