Deep intronic mutation and pseudo exon activation as a novel muscular hypertrophy modifier in cattle.
Myostatin is essential for proper regulation of myogenesis, and inactivation of Myostatin results in muscle hypertrophy. Here, we identified an unexpected mutation in the myostatin gene which is almost fixed in Blonde d'Aquitaine cattle. In skeletal muscle, the mutant allele was highly expressed leading to an abnormal transcript consisting of a 41-bp inclusion and premature termination codons and to residual levels of a correctly spliced transcript. This expression pattern, caused by a leaky intronic mutation with regard to spliceosome activity and its apparent stability with regard to surveillance mechanisms, could contribute to the moderate muscle hypertrophy in this cattle breed. This finding is of importance for genetic counseling for meat quantity and quality in livestock production and possibly to manipulate myostatin pre-mRNA in human muscle diseases.
Unité Mixte de Recherche (UMR) 1061 INRA/Université de Limoges, Unité de Génétique Moléculaire Animale, Limoges, France.
Claire
C
Bouyer
Unité Mixte de Recherche (UMR) 1061 INRA/Université de Limoges, Unité de Génétique Moléculaire Animale, Limoges, France.
Lionel
L
Forestier
UMR 1313 INRA, Unité de Génétique Animale et Biologie Intégrative, Jouy-en-Josas, France.
Gilles
G
Renand
Unité Mixte de Recherche (UMR) 1061 INRA/Université de Limoges, Unité de Génétique Moléculaire Animale, Limoges, France.
Ahmad
A
Oulmouden
D000483:Alleles; D000818:Animals; D002417:Cattle / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005817:Genetic Counseling / Q000379:methods; D006984:Hypertrophy / Q000235:genetics*; D007438:Introns / Q000235:genetics*; D058751:Livestock / Q000235:genetics; D008460:Meat; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012322:RNA Precursors / Q000235:genetics
D012322:RNA Precursors