Understanding the Human RECQ5 Helicase—Connecting the Dots from DNA to Clinics

Author:

Mo Chiefe1,Shiozaki Yukari1ORCID,Omabe Kenneth1,Liu Yilun1

Affiliation:

1. Department of Cancer Genetics and Epigenetics, Beckman Research Institute of City of Hope, 1500 East Duarte Road, Duarte, CA 91010-3000, USA

Abstract

RECQ5, a member of the conserved RECQ helicase family, is the sole human RECQ homolog that has not been linked to a hereditary developmental syndrome. Nonetheless, dysregulation of RECQ5 has emerged as a significant clinical concern, being linked to cancer predisposition, cardiovascular disease, and inflammation. In cells, RECQ5 assumes a crucial role in the regulation of DNA repair pathways, particularly in the repair of DNA double-strand breaks and inter-strand DNA crosslinks. Moreover, RECQ5 exhibits a capacity to modulate gene expression by interacting with transcription machineries and their co-regulatory proteins, thus safeguarding against transcription-induced DNA damage. This review aims to provide an overview of the multifaceted functions of RECQ5 and its implications in maintaining genomic stability. We will discuss the potential effects of clinical variants of RECQ5 on its cellular functions and their underlying mechanisms in the pathogenesis of cancer and cardiovascular disease. We will review the impact of RECQ5 variants in the field of pharmacogenomics, specifically their influence on drug responses, which may pave the way for novel therapeutic interventions targeting RECQ5 in human diseases.

Funder

NIH

Publisher

MDPI AG

Subject

General Medicine

Reference107 articles.

1. Rothmund-Thomson syndrome helicase, RECQ4: On the crossroad between DNA replication and repair;Liu;DNA Repair,2010

2. Ueber Cataracten in Verbindung mit einer eigenthümlichen Hautdegeneration;Rothmund;Arch. Ophthalmol.,1868

3. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome;Kitao;Nat. Genet.,1999

4. (1985). On cataract in conjunction with scleroderma. Otto Werner, doctoral dissertation, 1904, Royal Ophthalmology Clinic, Royal Christian Albrecht University of Kiel. Adv. Exp. Med. Biol., 190, 1–14.

5. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity;Bloom;AMA Am. J. Dis. Child.,1954

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