title: RTEL1: functions of a disease-associated helicase.
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.
authors.affiliation: DNA Damage Response Laboratory, London Research Institute, Cancer Research UK, Clare Hall, South Mimms, EN6 3LD, UK.
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Vannier
authors.affiliation: DNA Damage Response Laboratory, London Research Institute, Cancer Research UK, Clare Hall, South Mimms, EN6 3LD, UK.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Sarek
authors.affiliation: DNA Damage Response Laboratory, London Research Institute, Cancer Research UK, Clare Hall, South Mimms, EN6 3LD, UK. Electronic address: simon.boulton@cancer.org.uk.
authors.forename: Simon J
authors.initials: SJ
authors.lastname: Boulton
mesh_terms: D000818:Animals; D004265:DNA Helicases / Q000235:genetics / Q000378:metabolism*; D019871:Dyskeratosis Congenita / Q000235:genetics / Q000378:metabolism; D005317:Fetal Growth Retardation / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism; D008831:Microcephaly / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D016615:Telomere / Q000235:genetics / Q000378:metabolism*; D034501:Telomere-Binding Proteins / Q000378:metabolism*
chemical_list: D034501:Telomere-Binding Proteins; D004265:DNA Helicases
keywords: DNA repair; DNA replication; Hoyeraal–Hreidarsson syndrome; double-strand break repair; homologous recombination; telomeres