The chromatin remodeller ATRX: a repeat offender in human disease.

Journal article

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.

Authors: Clynes, D; Higgs, D; Gibbons, R

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Cell Press
• Journal: Trends in biochemical sciences
• Volume: 38
• Issue: 9
• Pages: 461-466
• Publication date: 2013-09-01
• DOI: 10.1016/j.tibs.2013.06.011
• ISSN: 0968-0004
• Language: English
• Keywords: Nuclear Proteins; Telomere; Chromatin; Histones; Humans; DNA Replication; DNA Helicases; Chromatin Assembly and Disassembly