Deep intronic mutation and pseudo exon activation as a novel muscular hypertrophy modifier in cattle

PLoS One. 2014 May 14;9(5):e97399. doi: 10.1371/journal.pone.0097399. eCollection 2014.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Cattle / genetics*
  • Exons / genetics*
  • Genetic Counseling / methods
  • Hypertrophy / genetics*
  • Introns / genetics*
  • Livestock / genetics
  • Meat
  • Muscle, Skeletal / pathology
  • Muscular Diseases / genetics*
  • Mutation / genetics*
  • RNA Precursors / genetics

Substances

  • RNA Precursors

Supplementary concepts

  • Myostatin-related muscle hypertrophy

Grants and funding

This work was funded by the Université de Limoges, Région Limousin and INRA, France. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.