The paradox of R-loops: guardians of the genome or drivers of disease?

IF 5.5 2区生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Genome research Pub Date : 2025-08-06 DOI:10.1101/gr.278992.124

Shachinthaka D. Dissanayaka Mudiyanselage, Phillip Wulfridge, Kavitha Sarma

引用次数: 0

Abstract

R-loops, chromatin structures containing DNA–RNA hybrids with displaced single-stranded DNA, play crucial roles in various cellular processes. Their formation is influenced by factors such as DNA topology, RNA stability, and the presence of GC-rich regions. However, excessive or uncontrolled R-loop accumulation can threaten genomic stability, leading to DNA damage, particularly double-strand breaks. To preserve genome integrity, cells have developed mechanisms to regulate R-loop formation and resolution. Dysregulation of these processes is linked to several diseases, including cancer and neurodegenerative disorders. In this review, we will explore the dynamics of R-loop formation and resolution and how they are detected, their roles in DNA damage and repair, and how their dysregulation may lead to immune responses and disease pathogenesis.

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r环的悖论：基因组的守护者还是疾病的驱动者？

r环是一种染色质结构，含有DNA - rna杂交体和移位的单链DNA，在各种细胞过程中起着至关重要的作用。它们的形成受到DNA拓扑结构、RNA稳定性和富含gc区域的存在等因素的影响。然而，过量或不受控制的r环积累会威胁基因组的稳定性，导致DNA损伤，特别是双链断裂。为了保持基因组的完整性，细胞已经发展出调节r环形成和分解的机制。这些过程的失调与几种疾病有关，包括癌症和神经退行性疾病。在这篇综述中，我们将探讨R-loop形成和分解的动力学以及它们是如何被检测到的，它们在DNA损伤和修复中的作用，以及它们的失调如何导致免疫反应和疾病发病机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genome research 生物-生化与分子生物学

CiteScore

12.40

自引率

1.40%

发文量

140

审稿时长

6 months

期刊介绍： Launched in 1995, Genome Research is an international, continuously published, peer-reviewed journal that focuses on research that provides novel insights into the genome biology of all organisms, including advances in genomic medicine. Among the topics considered by the journal are genome structure and function, comparative genomics, molecular evolution, genome-scale quantitative and population genetics, proteomics, epigenomics, and systems biology. The journal also features exciting gene discoveries and reports of cutting-edge computational biology and high-throughput methodologies. New data in these areas are published as research papers, or methods and resource reports that provide novel information on technologies or tools that will be of interest to a broad readership. Complete data sets are presented electronically on the journal''s web site where appropriate. The journal also provides Reviews, Perspectives, and Insight/Outlook articles, which present commentary on the latest advances published both here and elsewhere, placing such progress in its broader biological context.