RTEL1螺旋酶在端粒及其它领域中的多样表现。
The many faces of the helicase RTEL1 at telomeres and beyond.
发表日期：2023 Jul 31
作者：
Noa Hourvitz, Aya Awad, Yehuda Tzfati
来源：
TRENDS IN CELL BIOLOGY
摘要：
端粒延长调控蛋白1（RTEL1）被称为对端粒和基因组完整性至关重要的DNA解旋酶。然而，RTEL1功能障碍引起的多样化表型、本源性RTEL1突变引起的广泛症状以及RTEL1突变与癌症的关联表明，RTEL1是一台与DNA、RNA和蛋白质相互作用并参与多样化细胞通路的复杂机器。我们对RTEL1的所提出的功能进行总结，并讨论其对端粒维持的意义。研究RTEL1对于理解端粒维护与其他核通路之间复杂相互作用的关系以及如何损害这些通路导致端粒生物学疾病、各种与衰老相关的病理学和癌症至关重要。版权所有 © 2023 Elsevier Ltd. 保留所有权利。
Regulator of telomere elongation 1 (RTEL1) is known as a DNA helicase that is important for telomeres and genome integrity. However, the diverse phenotypes of RTEL1 dysfunction, the wide spectrum of symptoms caused by germline RTEL1 mutations, and the association of RTEL1 mutations with cancers suggest that RTEL1 is a complex machine that interacts with DNA, RNA, and proteins, and functions in diverse cellular pathways. We summarize the proposed functions of RTEL1 and discuss their implications for telomere maintenance. Studying RTEL1 is crucial for understanding the complex interplay between telomere maintenance and other nuclear pathways, and how compromising these pathways causes telomere biology diseases, various aging-associated pathologies, and cancer.Copyright © 2023 Elsevier Ltd. All rights reserved.