The many faces of the helicase RTEL1 at telomeres and beyond

Noa Hourvitz; Aya Awad; Yehuda Tzfati

doi:10.1016/j.tcb.2023.07.002

The many faces of the helicase RTEL1 at telomeres and beyond

Trends Cell Biol. 2024 Feb;34(2):109-121. doi: 10.1016/j.tcb.2023.07.002. Epub 2023 Jul 31.

Authors

Noa Hourvitz¹, Aya Awad¹, Yehuda Tzfati²

Affiliations

¹ Department of Genetics, The Silberman Institute of Life Sciences, The Hebrew University of Jerusalem, Safra Campus, Jerusalem 91904, Israel.
² Department of Genetics, The Silberman Institute of Life Sciences, The Hebrew University of Jerusalem, Safra Campus, Jerusalem 91904, Israel. Electronic address: tzfati@mail.huji.ac.il.

PMID: 37532653
DOI: 10.1016/j.tcb.2023.07.002

Abstract

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.

Keywords: G-quadruplexes; R-loops; genome stability; telomere biology disease.

Publication types

Review

MeSH terms

DNA Helicases* / genetics
DNA Helicases* / metabolism
Genome*
Humans
Phenotype
Telomere / genetics
Telomere / metabolism

Substances

DNA Helicases
RTEL1 protein, human