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Published on: April 28, 2021
Understanding the Human RECQ5 Helicase-Connecting the Dots from DNA to Clinics
Chiefe Mo1, Yukari Shiozaki1, Kenneth Omabe1
1Department 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.
Insights
RECQ5 (RecQ helicase-like 5) is vital for DNA repair and genomic stability, despite not causing developmental syndromes. Its dysregulation is linked to cancer and cardiovascular disease, offering therapeutic targets.
Area of Science:
- Molecular Biology
- Genetics
- Genomics
Background:
- RECQ5 (RecQ helicase-like 5) is a key human DNA helicase.
- Unlike other RECQ helicases, RECQ5 is not associated with hereditary developmental syndromes.
- However, RECQ5 dysregulation is implicated in cancer predisposition, cardiovascular disease, and inflammation.
Purpose of the Study:
- To review the diverse functions of RECQ5 in maintaining genomic stability.
- To explore the impact of RECQ5 variants on its cellular functions and disease pathogenesis.
- To discuss the role of RECQ5 in pharmacogenomics and its potential as a therapeutic target.
Main Methods:
- Literature review of RECQ5 functions, clinical variants, and disease associations.
- Analysis of RECQ5's role in DNA repair pathways (double-strand breaks, inter-strand crosslinks).
- Examination of RECQ5's interaction with transcription machinery and its role in preventing transcription-induced DNA damage.
Main Results:
- RECQ5 is crucial for DNA double-strand break and inter-strand crosslink repair.
- RECQ5 regulates gene expression and protects against transcription-induced DNA damage.
- Clinical variants of RECQ5 may affect its function, contributing to cancer and cardiovascular disease.
Conclusions:
- RECQ5 plays a critical role in maintaining genomic integrity through DNA repair and transcriptional regulation.
- Understanding RECQ5 variants is essential for elucidating disease mechanisms and developing targeted therapies.
- RECQ5 modulation holds promise for novel pharmacogenomic interventions in human diseases.
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