ATRX: the case of a peculiar chromatin remodeler

Epigenetics. 2013 Jan;8(1):3-9. doi: 10.4161/epi.23271. Epub 2012 Dec 18.

Abstract

The SWI/SNF-like chromatin remodeler ATRX has recently garnered renewed attention. ATRX mutations were first identified in patients bearing the syndrome after which it is named, alpha thalassemia/mental retardation, X-linked. While ATRX has long been implicated in transcriptional regulation through multiple mechanisms, recent studies have identified a role for ATRX in the regulation of histone variant deposition. In addition, current reports describe ATRX to be mutated at high percentages in multiple tumor types, suggestive of a potential 'driver' role in cancer. Here we discuss the numerous and seemingly diverse roles for ATRX in transcriptional regulation and histone deposition and suggest that ATRX's effects are mediated by its regulation of histones within the chromatin template.

Keywords: ATRX; histone variants; macroH2A and H3.3; telomeres; α-globin.

Publication types

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

MeSH terms

  • Animals
  • Chromatin Assembly and Disassembly*
  • G-Quadruplexes
  • Histones / metabolism
  • Humans
  • Mental Retardation, X-Linked / metabolism
  • Nuclear Proteins / metabolism*
  • Transcription, Genetic
  • alpha-Thalassemia / metabolism

Substances

  • Histones
  • Nuclear Proteins

Supplementary concepts

  • ATR-X syndrome