Submitted to: Mammalian Genome
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: July 2, 1997
Publication Date: N/A
Interpretive Summary: A gene called myostatin has recently been discovered in mice (Nature, issue of May 10, 1997) that has very significant effects on muscle development. Specifically, mice have been produced in which the myostatin gene has been intentionally interrupted by genetic engineering. These mice develop extremely large muscles that look very much like those seen in double-muscled cattle breeds such as Belgian Blue and Piedmontese. The goal of this paper was to map the myostatin gene in cattle to evaluate the possibility that it is the gene causing increased muscle mass in these breeds. It has previously been shown that the locus that produces the cattle phenotype is located on bovine chromosome 2 near a gene called COL3A1. The data in this paper show that myostatin has the same map location in cattle as COL3A1, strongly suggesting that myostatin is the gene that leads to large muscles in heavy muscled cattle.
Myostatin (GDF-8) is a member of the transforming growth factor-beta superfamily and plays a role in muscle growth and development. Mice lacking this gene display marked increases in muscle mass, a phenotype similar to the muscular hypertrophy (mh) in cattle of the Belgian Blue and Piedmontese breeds. Physical mapping data developed from YAC clones indicate the bovine myostatin gene lies close to the centromere of bovine chromosome 2 (BTA2) at 2q1.1, indistinguishable from the cytogenetic location of the mh locus. In addition, a polymorphism in the second intron of the gene was used to show that myostatin maps within the interval previously shown to contain mh. These data suggest myostatin may be the gene causing muscular hypertrophy in cattle.