An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

EMBO J. 2008 Oct 22;27(20):2766-79. doi: 10.1038/emboj.2008.201. Epub 2008 Oct 2.

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is caused by an unusual deletion with neomorphic activity. This deletion derepresses genes in cis; however which candidate gene causes the FSHD phenotype, and through what mechanism, is unknown. We describe a novel genetic tool, inducible cassette exchange, enabling rapid generation of isogenetically modified cells with conditional and variable transgene expression. We compare the effects of expressing variable levels of each FSHD candidate gene on myoblasts. This screen identified only one gene with overt toxicity: DUX4 (double homeobox, chromosome 4), a protein with two homeodomains, each similar in sequence to Pax3 and Pax7. DUX4 expression recapitulates key features of the FSHD molecular phenotype, including repression of MyoD and its target genes, diminished myogenic differentiation, repression of glutathione redox pathway components, and sensitivity to oxidative stress. We further demonstrate competition between DUX4 and Pax3/Pax7: when either Pax3 or Pax7 is expressed at high levels, DUX4 is no longer toxic. We propose a hypothesis for FSHD in which DUX4 expression interferes with Pax7 in satellite cells, and inappropriately regulates Pax targets, including myogenic regulatory factors, during regeneration.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Differentiation
  • Cloning, Molecular
  • Gene Deletion
  • Gene Expression Regulation*
  • Glutathione / metabolism
  • Homeodomain Proteins / metabolism
  • Homeodomain Proteins / physiology*
  • Mice
  • Muscular Dystrophy, Facioscapulohumeral / metabolism
  • Muscular Dystrophy, Facioscapulohumeral / pathology*
  • Myoblasts / metabolism*
  • Oxidation-Reduction
  • PAX3 Transcription Factor
  • PAX7 Transcription Factor / metabolism
  • Paired Box Transcription Factors / metabolism
  • Phenotype
  • Transgenes

Substances

  • Dux4 protein, mouse
  • Homeodomain Proteins
  • PAX3 Transcription Factor
  • PAX7 Transcription Factor
  • Paired Box Transcription Factors
  • Pax7 protein, mouse
  • Pax3 protein, mouse
  • Glutathione