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RTEL1: functions of a disease-associated helicase

TRENDS IN CELL BIOLOGY (2014)

期刊

TRENDS IN CELL BIOLOGY

卷 24, 期 7, 页码 416-425

出版社

ELSEVIER SCIENCE LONDON

DOI: 10.1016/j.tcb.2014.01.004

关键词

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

类别

Cell Biology

资金

Cancer Research UK [11581] Funding Source: researchfish

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Protocol

Reagent

摘要

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.

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