[Positional clonage and characterization of the bovine myostatin gene].
The double-muscled condition has been intensively selected for in the Belgian Blue cattle breed, where segregation studies have demonstrated the monogenic, autosomal and recessive determinism. This has been confirmed by genetic linkage which located the gene to the centromeric tip of chromosome 2. Our positional cloning strategy, and the discovery of a positional candidate in the mouse, led us to the identification of the causative gene now referred to as the Myostatin gene, since its product downregulates skeletal muscle mass. Disruptive mutations of the gene in cattle have been shown to be responsible for the muscular hypertrophy found in eight european beef breeds. A 15 Kilobases genomic region, including the myostatin gene, has been sequenced and compared in cattle and mice. The murine gene has undergone a complex genetic engineering in order to test different allelic variants in vivo after gene targeting transgenesis.
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D000818:Animals; D001483:Base Sequence; D002417:Cattle; D003001:Cloning, Molecular / Q000379:methods*; D015536:Down-Regulation; D005060:Europe; D017353:Gene Deletion; D023061:Gene Order / Q000235:genetics*; D005818:Genetic Engineering; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D006984:Hypertrophy; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D055435:Myostatin; D011110:Polymorphism, Genetic / Q000235:genetics; D017422:Sequence Analysis, DNA; D016212:Transforming Growth Factor beta / Q000235:genetics*
C525911:MSTN protein, human; C525912:Mstn protein, mouse; D055435:Myostatin; D016212:Transforming Growth Factor beta