Document Detail

A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle.
MedLine Citation:
PMID:  9288100     Owner:  NLM     Status:  MEDLINE    
An exceptional muscle development commonly referred to as 'double-muscled' (Fig. 1) has been seen in several cattle breeds and has attracted considerable attention from beef producers. Double-muscled animals are characterized by an increase in muscle mass of about 20%, due to general skeletal-muscle hyperplasia-that is, an increase in the number of muscle fibers rather than in their individual diameter. Although the hereditary nature of the double-muscled condition was recognized early on, the precise mode of inheritance has remained controversial; monogenic (domainant and recessive), oligogenic and polygenic models have been proposed. In the Belgian Blue cattle breed (BBCB), segregation analysis performed both in experimental crosses and in the outbred population suggested an autosomal recessive inheritance. This was confirmed when the muscular hypertrophy (mh) locus was mapped 3.1 cM from microsatellite TGLA44 on the centromeric end of bovine chromosome 2 (ref. 5). We used a positional candidate approach to demonstrate that a mutation in bovine MSTN, which encodes myostatin, a member of the TGF beta superfamily, is responsible for the double-muscled phenotype. We report an 11-bp deletion in the coding sequence for the bioactive carboxy-terminal domain of the protein causing the muscular hypertrophy observed in Belgian Blue cattle.
L Grobet; L J Martin; D Poncelet; D Pirottin; B Brouwers; J Riquet; A Schoeberlein; S Dunner; F Ménissier; J Massabanda; R Fries; R Hanset; M Georges
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Nature genetics     Volume:  17     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1997 Sep 
Date Detail:
Created Date:  1997-10-02     Completed Date:  1997-10-02     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  71-4     Citation Subset:  IM    
Department of Genetics, Faculty of Veterinary Medicine, University of Liège, Belgium.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Cattle / anatomy & histology,  genetics*
Chromosome Mapping*
DNA Primers
Microsatellite Repeats*
Molecular Sequence Data
Muscle, Skeletal / anatomy & histology*
Polymerase Chain Reaction
Sequence Alignment
Sequence Deletion*
Species Specificity
Transforming Growth Factor beta / biosynthesis,  chemistry,  genetics*
Reg. No./Substance:
0/DNA Primers; 0/MSTN protein, human; 0/Myostatin; 0/Transforming Growth Factor beta
Comment In:
Nat Genet. 1997 Sep;17(1):4-5   [PMID:  9288084 ]

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