Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle
Mammalian genome, 1998•Springer
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 …
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 …
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-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.
Springer