RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability

RTEL1 (regulator of telomere length helicase 1) is a DNA helicase that has been identified more than 10 years ago. Many works since, mainly in the nematode Caenorhabditis elegans and the mouse, have highlighted its role in chromosomal stability, maintenance of telomere length, and DNA repair. Recent...

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Published inM.S. Médecine sciences Vol. 29; no. 12; pp. 1138 - 1144
Main Authors Le Guen, Tangui, Jullien, Laurent, Schertzer, Mike, Lefebvre, Axelle, Kermasson, Laetitia, de Villartay, Jean-Pierre, Londoño-Vallejo, Arturo, Revy, Patrick
Format Journal Article
LanguageFrench
Published France 01.12.2013
Subjects
Animals
DNA Helicases - genetics
DNA Helicases - physiology
DNA Repair
Dyskeratosis Congenita - genetics
Fetal Growth Retardation - genetics
Genetic Phenomena - genetics
Genetic Phenomena - physiology
Genomic Instability - genetics
Genomic Instability - physiology
Humans
Intellectual Disability - genetics
Mice
Microcephaly - genetics
Mutation
Telomere - physiology
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Summary:RTEL1 (regulator of telomere length helicase 1) is a DNA helicase that has been identified more than 10 years ago. Many works since, mainly in the nematode Caenorhabditis elegans and the mouse, have highlighted its role in chromosomal stability, maintenance of telomere length, and DNA repair. Recently, four laboratories have characterized RTEL1 mutations in patients with dyskeratosis congenita (DC) and Hoyeraal-Hreidarsson (HH) syndrome, a rare and severe variant of DC. We here summarize the current knowledge on RTEL1 and discuss the possible other functions that RTEL1 could play.
Bibliography:ObjectType-Article-2
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ISSN:0767-0974
DOI:10.1051/medsci/20132912018