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

Clynes D., Higgs DR., Gibbons RJ.

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.

DOI

10.1016/j.tibs.2013.06.011

Type

Journal article

Journal

Trends Biochem Sci

Publication Date

09/2013

Volume

38

Pages

461 - 466

Keywords

ATRX, DNA replication, G4-quadruplex DNA, alternative lengthening of telomeres, Chromatin, Chromatin Assembly and Disassembly, DNA Helicases, DNA Replication, Histones, Humans, Nuclear Proteins, Telomere, X-linked Nuclear Protein

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