The chromatin remodeller ATRX: a repeat offender in human disease

Trends Biochem Sci. 2013 Sep;38(9):461-6. doi: 10.1016/j.tibs.2013.06.011. Epub 2013 Aug 1.


The regulation of chromatin structure is of paramount importance for a variety of fundamental nuclear processes, including gene expression, DNA repair, replication, and recombination. The ATP-dependent chromatin-remodelling factor ATRX (α thalassaemia/mental retardation X-linked) has emerged as a key player in each of these processes. Exciting recent developments suggest that ATRX plays a variety of key roles at tandem repeat sequences within the genome, including the deposition of a histone variant, prevention of replication fork stalling, and the suppression of a homologous recombination-based pathway of telomere maintenance. Here, we provide a mechanistic overview of the role of ATRX in each of these processes, and propose how they may be connected to give rise to seemingly disparate human diseases.

Keywords: ATRX; DNA replication; G4-quadruplex DNA; alternative lengthening of telomeres.

Publication types

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

MeSH terms

  • Chromatin / metabolism*
  • Chromatin Assembly and Disassembly
  • DNA Helicases / genetics
  • DNA Helicases / metabolism*
  • DNA Replication / genetics
  • DNA Replication / physiology
  • Histones / metabolism
  • Humans
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Telomere / metabolism
  • X-linked Nuclear Protein


  • Chromatin
  • Histones
  • Nuclear Proteins
  • DNA Helicases
  • ATRX protein, human
  • X-linked Nuclear Protein