R环是DNA-RNA杂种,在基因调控中起着多功能作用,包括复制,转录,转录-复制碰撞,表观遗传学,并保持基因组的完整性。非计划R环的异常形成和积累可以破坏基因表达并损伤DNA,从而导致基因组不稳定。计划外的R环积累与调节R环生物发生的大量蛋白质之间的最新联系与许多人类疾病有关。包括各种癌症。尽管R环不一定是迄今为止描述的所有疾病实体的病因,它们可以延续甚至加剧最初引发疾病的病理生理学,使它们成为分子诊断感兴趣的结构。在这次审查中,我们讨论了R-loop在健康和疾病中的(病理)生理作用,他们令人惊讶的诊断潜力,和最先进的检测技术。
R-loops are DNA-RNA hybrids that play multifunctional roles in gene regulation, including replication, transcription, transcription-replication collision, epigenetics, and preserving the integrity of the genome. The aberrant formation and accumulation of unscheduled R-loops can disrupt gene expression and damage DNA, thereby causing genome instability. Recent links between unscheduled R-loop accumulation and the abundance of proteins that modulate R-loop biogenesis have been associated with numerous human diseases, including various cancers. Although R-loops are not necessarily causative for all disease entities described to date, they can perpetuate and even exacerbate the initially disease-eliciting pathophysiology, making them structures of interest for molecular diagnostics. In this review, we discuss the (patho) physiological role of R-loops in health and disease, their surprising diagnostic potential, and state-of-the-art techniques for their detection.