PUBLICATION
Double muscling in cattle due to mutations in the myostatin gene
- Authors
- McPherron, A.C. and Lee, S.J.
- ID
- ZDB-PUB-000816-2
- Date
- 1997
- Source
- Proceedings of the National Academy of Sciences of the United States of America 94(23): 12457-12461 (Journal)
- Registered Authors
- Keywords
- none
- MeSH Terms
-
- Amino Acid Sequence
- Animals
- Cattle
- Cloning, Molecular
- Frameshift Mutation*
- Mice
- Molecular Sequence Data
- Muscle, Skeletal/anatomy & histology*
- Myostatin
- Organ Size/genetics
- Sequence Alignment
- Sequence Analysis
- Species Specificity
- Transforming Growth Factor beta/genetics*
- PubMed
- 9356471 Full text @ Proc. Natl. Acad. Sci. USA
Citation
McPherron, A.C. and Lee, S.J. (1997) Double muscling in cattle due to mutations in the myostatin gene. Proceedings of the National Academy of Sciences of the United States of America. 94(23):12457-12461.
Abstract
Myostatin (GDF-8) is a member of the transforming growth factor beta superfamily of secreted growth and differentiation factors that is essential for proper regulation of skeletal muscle mass in mice. Here we report the myostatin sequences of nine other vertebrate species and the identification of mutations in the coding sequence of bovine myostatin in two breeds of double-muscled cattle, Belgian Blue and Piedmontese, which are known to have an increase in muscle mass relative to conventional cattle. The Belgian Blue myostatin sequence contains an 11-nucleotide deletion in the third exon which causes a frameshift that eliminates virtually all of the mature, active region of the molecule. The Piedmontese myostatin sequence contains a missense mutation in exon 3, resulting in a substitution of tyrosine for an invariant cysteine in the mature region of the protein. The similarity in phenotypes of double-muscled cattle and myostatin null mice suggests that myostatin performs the same biological function in these two species and is a potentially useful target for genetic manipulation in other farm animals.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping