Update on R-loops in genomic integrity: Formation, functions, and implications for human diseases

R-loops, three-strand nucleic acid structures, have emerged as crucial players in various physiological processes, including the regulation of gene expression, DNA replication, and class switch recombination. However, their presence also poses a significant threat to genome stability. A particularly...

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Main Authors: Min Zhu, Xinyu Wang, Hongchang Zhao, Zhenjie Wang
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2025-07-01
Series:Genes and Diseases
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Online Access:http://www.sciencedirect.com/science/article/pii/S2352304224001983
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author Min Zhu
Xinyu Wang
Hongchang Zhao
Zhenjie Wang
author_facet Min Zhu
Xinyu Wang
Hongchang Zhao
Zhenjie Wang
author_sort Min Zhu
collection DOAJ
description R-loops, three-strand nucleic acid structures, have emerged as crucial players in various physiological processes, including the regulation of gene expression, DNA replication, and class switch recombination. However, their presence also poses a significant threat to genome stability. A particularly challenging aspect is understanding the dynamic balance between R-loops' “light” and “dark” sites, especially concerning maintaining genome integrity. The complex and multifaceted roles of R-loops in genome stability necessitate a deeper understanding. This review offers a comprehensive exploration of the formation, resolution, and implications of R-loops, particularly in the context of DNA damage and human disease. We delve into the dualistic nature of R-loops, highlighting their role in DNA damage response and repair, and discuss the therapeutic potential arising from our evolving understanding of these enigmatic entities. Emphasizing recent advancements and unresolved questions, this review aims to provide a cohesive overview of R-loops, inviting further inquiry and investigation into their complex biological significance.
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series Genes and Diseases
spelling doaj-art-94073a4bb63b4d10b87a6e313ddf3d602025-08-20T03:11:06ZengKeAi Communications Co., Ltd.Genes and Diseases2352-30422025-07-0112410140110.1016/j.gendis.2024.101401Update on R-loops in genomic integrity: Formation, functions, and implications for human diseasesMin Zhu0Xinyu Wang1Hongchang Zhao2Zhenjie Wang3Institute for Translation Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, Shandong 266021, ChinaInstitute for Translation Medicine, The Affiliated Hospital of Qingdao University, College of Medicine, Qingdao University, Qingdao, Shandong 266021, ChinaDepartment of Emergency Surgery, The First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui 233004, China; Institute of Emergency and Critical Care, The First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui 233004, China; Corresponding author. Department of Emergency Surgery, The First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui 233004, China.Department of Emergency Surgery, The First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui 233004, China; Institute of Emergency and Critical Care, The First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui 233004, China; Corresponding author. Department of Emergency Surgery, The First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui 233004, China.R-loops, three-strand nucleic acid structures, have emerged as crucial players in various physiological processes, including the regulation of gene expression, DNA replication, and class switch recombination. However, their presence also poses a significant threat to genome stability. A particularly challenging aspect is understanding the dynamic balance between R-loops' “light” and “dark” sites, especially concerning maintaining genome integrity. The complex and multifaceted roles of R-loops in genome stability necessitate a deeper understanding. This review offers a comprehensive exploration of the formation, resolution, and implications of R-loops, particularly in the context of DNA damage and human disease. We delve into the dualistic nature of R-loops, highlighting their role in DNA damage response and repair, and discuss the therapeutic potential arising from our evolving understanding of these enigmatic entities. Emphasizing recent advancements and unresolved questions, this review aims to provide a cohesive overview of R-loops, inviting further inquiry and investigation into their complex biological significance.http://www.sciencedirect.com/science/article/pii/S2352304224001983DNA repairDouble strand breaksGenome instabilityImmune responseR-loopsReplication stress
spellingShingle Min Zhu
Xinyu Wang
Hongchang Zhao
Zhenjie Wang
Update on R-loops in genomic integrity: Formation, functions, and implications for human diseases
Genes and Diseases
DNA repair
Double strand breaks
Genome instability
Immune response
R-loops
Replication stress
title Update on R-loops in genomic integrity: Formation, functions, and implications for human diseases
title_full Update on R-loops in genomic integrity: Formation, functions, and implications for human diseases
title_fullStr Update on R-loops in genomic integrity: Formation, functions, and implications for human diseases
title_full_unstemmed Update on R-loops in genomic integrity: Formation, functions, and implications for human diseases
title_short Update on R-loops in genomic integrity: Formation, functions, and implications for human diseases
title_sort update on r loops in genomic integrity formation functions and implications for human diseases
topic DNA repair
Double strand breaks
Genome instability
Immune response
R-loops
Replication stress
url http://www.sciencedirect.com/science/article/pii/S2352304224001983
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