[RTEL1（端粒延伸解旋酶1调节因子），一种对基因组稳定性至关重要的DNA解旋酶]

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

作者信息

Le Guen Tangui, Jullien Laurent, Schertzer Mike, Lefebvre Axelle, Kermasson Laetitia, de Villartay Jean-Pierre, Londoño-Vallejo Arturo, Revy Patrick

机构信息

Dynamique du génome et système immunitaire, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France - Inserm U768, université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France.

Télomère et cancer, Institut Curie, UMR3244, 26 Rue d'Ulm, 75005 Paris, France.

出版信息

Med Sci (Paris). 2013 Dec;29(12):1138-44. doi: 10.1051/medsci/20132912018. Epub 2013 Dec 20.

DOI:10.1051/medsci/20132912018

PMID:24356145

Abstract

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.

摘要

RTEL1（端粒长度解旋酶调节因子1）是一种早在10多年前就已被鉴定出来的DNA解旋酶。自那以后，许多研究工作，主要是在线虫秀丽隐杆线虫和小鼠中进行的研究，突出了它在染色体稳定性、端粒长度维持和DNA修复中的作用。最近，四个实验室对先天性角化不良（DC）和霍耶拉尔 - 赫雷达尔松（HH）综合征患者的RTEL1突变进行了特征描述，HH综合征是DC的一种罕见且严重的变体。我们在此总结了关于RTEL1的现有知识，并讨论了RTEL1可能发挥的其他潜在功能。