title: Molecular definition of an allelic series of mutations disrupting the myostatin function and causing double-muscling in cattle.
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-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.
authors.affiliation: Department of Genetics, Faculty of Veterinary Medicine, University of Liège (B43), Belgium.
authors.forename: L
authors.initials: L
authors.lastname: Grobet
authors.forename: D
authors.initials: D
authors.lastname: Poncelet
authors.forename: L J
authors.initials: LJ
authors.lastname: Royo
authors.forename: B
authors.initials: B
authors.lastname: Brouwers
authors.forename: D
authors.initials: D
authors.lastname: Pirottin
authors.forename: C
authors.initials: C
authors.lastname: Michaux
authors.forename: F
authors.initials: F
authors.lastname: Ménissier
authors.forename: M
authors.initials: M
authors.lastname: Zanotti
authors.forename: S
authors.initials: S
authors.lastname: Dunner
authors.forename: M
authors.initials: M
authors.lastname: Georges
mesh_terms: 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
chemical_list: D055435:Myostatin; D016212:Transforming Growth Factor beta