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Trends Cell Biol. 2014 Jul;24(7):416-25. doi: 10.1016/j.tcb.2014.01.004. Epub 2014 Feb 25.

RTEL1: functions of a disease-associated helicase.

Author information

1
DNA Damage Response Laboratory, London Research Institute, Cancer Research UK, Clare Hall, South Mimms, EN6 3LD, UK.
2
DNA Damage Response Laboratory, London Research Institute, Cancer Research UK, Clare Hall, South Mimms, EN6 3LD, UK. Electronic address: simon.boulton@cancer.org.uk.

Abstract

DNA secondary structures that arise during DNA replication, repair, and recombination (3R) must be processed correctly to prevent genetic instability. Regulator of telomere length 1 (RTEL1) is an essential DNA helicase that disassembles a variety of DNA secondary structures to facilitate 3R processes and to maintain telomere integrity. The past few years have witnessed the emergence of RTEL1 variants that confer increased susceptibility to high-grade glioma, astrocytomas, and glioblastomas. Mutations in RTEL1 have also been implicated in Hoyeraal-Hreidarsson syndrome, a severe form of the bone-marrow failure and cancer predisposition disorder, dyskeratosis congenita. We review these recent findings and highlight its crucial link between DNA secondary-structure metabolism and human disease.

KEYWORDS:

DNA repair; DNA replication; Hoyeraal–Hreidarsson syndrome; double-strand break repair; homologous recombination; telomeres

PMID:
24582487
DOI:
10.1016/j.tcb.2014.01.004
[Indexed for MEDLINE]

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