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

Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle
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DOI:
10.1007/s003359900727
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发表时间:
1998-03-01
期刊:
影响因子:
2.5
通讯作者:
Georges, M
Georges, M
中科院分区:
生物学4区
文献类型:
--
作者:
Grobet, L;Poncelet, D;Georges, M

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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 poly morphisms 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 rewards locus heterogeneity of double-muscling.