Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle.
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.
Grobet
L
L
Department of Genetics, Faculty of Veterinary Medicine, University of Liège (B43), Belgium.
Poncelet
D
D
Royo
L J
LJ
Brouwers
B
B
Pirottin
D
D
Michaux
C
C
Ménissier
F
F
Zanotti
M
M
Dunner
S
S
Georges
M
M
D000483:Alleles; D000818:Animals; D002417:Cattle; D006239:Haplotypes; D018482:Muscle, Skeletal / Q000002:abnormalities*; D009140:Musculoskeletal Diseases / Q000235:genetics*; D009154:Mutation; D055435:Myostatin; D016212:Transforming Growth Factor beta / Q000235:genetics* / Q000502:physiology
D055435:Myostatin; D016212:Transforming Growth Factor beta