کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2031629 | 1071453 | 2013 | 6 صفحه PDF | دانلود رایگان |
• ATRX with DAXX deposits the variant histone H3.3 at repetitive DNA.
• Mutations in ATRX cause loss of α globin gene expression and α thalassaemia.
• ATRX mutations are associated with cancers that exhibit ALT.
• A replication defect may be the common pathway for these pathologies.
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.
Journal: - Volume 38, Issue 9, September 2013, Pages 461–466