Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy

Neuromuscul Disord. 2009 Jan;19(1):17-20. doi: 10.1016/j.nmd.2008.09.004. Epub 2008 Oct 29.

Abstract

Despite the discovery of the deletion on the long arm of the chromosome 4 specific for facioscapulohumeral muscular dystrophy (FSHD), the identity of the gene responsible for the disease still remains a mystery. In this review we focus on two genes, DUX4 and DUX4c, encoded by the D4Z4 repeats present in the 4q35 locus, which is affected in the disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chromosomes, Human, Pair 4 / genetics*
  • DNA, Intergenic / genetics*
  • Gene Deletion
  • Genetic Predisposition to Disease / genetics*
  • Homeodomain Proteins / genetics
  • Humans
  • Muscular Dystrophy, Facioscapulohumeral / genetics*
  • Muscular Dystrophy, Facioscapulohumeral / metabolism
  • Muscular Dystrophy, Facioscapulohumeral / physiopathology
  • Mutation / genetics*
  • Protein Isoforms / genetics
  • Pseudogenes / genetics*

Substances

  • DNA, Intergenic
  • DUX4L1 protein, human
  • Homeodomain Proteins
  • Protein Isoforms