Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation

FEBS Lett. 2003 Feb 27;537(1-3):133-8. doi: 10.1016/s0014-5793(03)00110-8.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy associated with deletions of a subtelomeric repeat (D4Z4). A reduction in D4Z4 copy number coincides with increased expression of neighboring 4q35 genes, implying a normal repressive role for the repeats. Here we examine the effect of increasing D4Z4 repeat number on reporter gene activity in C2C12 cells. Repeat size had only a minor cis-effect on reporter gene activity but greatly compromised myotube formation. This latter trans-effect did not result from expression of a gene within the repeat (DUX4) but likely results from squelching of the D4Z4 recognition complex.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Differentiation / physiology*
  • Cell Line
  • Cloning, Molecular
  • Cosmids
  • Genes, Reporter
  • Humans
  • Membrane Fusion
  • Muscular Dystrophy, Facioscapulohumeral / genetics
  • Myoblasts / cytology*
  • Repetitive Sequences, Nucleic Acid
  • Sequence Deletion*
  • Telomere / genetics*