Variabilité phénotypique du développement musculaire chez le bovin : analyse fine de la régulation du gène GDF8 codant la myostatine.

Abstract : Myostatin, a member of the TGF- β (Transforming growth factor-beta) superfamily, functions as a negative regulator of skeletal muscle development and growth.Since its discovery in mice in 1997, the myostatin gene has been extensively investigated considering the potential benefits of enhancing muscle growth in clinical and agricultural settings. Loss-of-function mutations which impair myostatin function or those which knockdown myostatin gene expression, result in muscle hypertrophy often referred to as ‘‘double-muscling’’ whereas myostatin overexpression induces profound muscle loss. Here, we identified an unexpected mutation in the myostatin gene that is responsible for increasing muscle mass in Blonde d'Aquitaine cattle breed. In skeletal muscle, the mutant allele was highly expressed leading to an abnormal transcript with a premature termination codon and to residual levels of a correctly spliced transcript. This expression pattern, caused by a leaky intronic mutation with regard to spliceosome, 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.
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Claire Bouyer. Variabilité phénotypique du développement musculaire chez le bovin : analyse fine de la régulation du gène GDF8 codant la myostatine.. Sciences agricoles. Université de Limoges, 2014. Français. ⟨NNT : 2014LIMO0054⟩. ⟨tel-01246397⟩

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