Deep Intronic Mutation and Pseudo Exon Activation as a Novel Muscular Hypertrophy Modifier in Cattle - INRAE - Institut national de recherche pour l’agriculture, l’alimentation et l’environnement Accéder directement au contenu
Article Dans Une Revue PLoS ONE Année : 2014

Deep Intronic Mutation and Pseudo Exon Activation as a Novel Muscular Hypertrophy Modifier in Cattle

Résumé

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.
Fichier principal
Vignette du fichier
2014_Bouyer_Plos-One_1.pdf (1.53 Mo) Télécharger le fichier
Origine : Fichiers éditeurs autorisés sur une archive ouverte
Loading...

Dates et versions

hal-01193857 , version 1 (27-05-2020)

Identifiants

Citer

Claire Bouyer, Lionel Forestier, Gilles Renand, Ahmad Oulmouden. Deep Intronic Mutation and Pseudo Exon Activation as a Novel Muscular Hypertrophy Modifier in Cattle. PLoS ONE, 2014, 9 (5), ⟨10.1371/journal.pone.0097399⟩. ⟨hal-01193857⟩
47 Consultations
25 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More