Ectopic Expression of Retrotransposon-Derived PEG11/RTL1 Contributes to the Callipyge Muscular Hypertrophy

PLoS One. 2015 Oct 16;10(10):e0140594. doi: 10.1371/journal.pone.0140594. eCollection 2015.

Abstract

The callipyge phenotype is an ovine muscular hypertrophy characterized by polar overdominance: only heterozygous +Mat/CLPGPat animals receiving the CLPG mutation from their father express the phenotype. +Mat/CLPGPat animals are characterized by postnatal, ectopic expression of Delta-like 1 homologue (DLK1) and Paternally expressed gene 11/Retrotransposon-like 1 (PEG11/RTL1) proteins in skeletal muscle. We showed previously in transgenic mice that ectopic expression of DLK1 alone induces a muscular hypertrophy, hence demonstrating a role for DLK1 in determining the callipyge hypertrophy. We herein describe newly generated transgenic mice that ectopically express PEG11 in skeletal muscle, and show that they also exhibit a muscular hypertrophy phenotype. Our data suggest that both DLK1 and PEG11 act together in causing the muscular hypertrophy of callipyge sheep.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Disease Models, Animal
  • Membrane Proteins / genetics*
  • Mice
  • Mice, Transgenic
  • Muscular Disorders, Atrophic / genetics
  • Muscular Disorders, Atrophic / pathology
  • Muscular Disorders, Atrophic / veterinary*
  • Mutation
  • Pregnancy Proteins / genetics*
  • Sheep
  • Sheep Diseases / genetics*
  • Sheep Diseases / pathology

Substances

  • Membrane Proteins
  • Pregnancy Proteins

Grants and funding

This work was supported by the Fonds de la Recherche Scientifique (project 2.4544.11), the Communauté Française de Belgique (ARC Mirage), the European Union (FP7 Callimir project), the China state-sponsored post-graduate study abroad program (to HC), and the Belgian Federal Science Policy Office (postdoctoral fellowship to XX).