RNA transcripts regulate G-quadruplex landscapes through G-loop formation

Koichi Sato, Jing Lyu, Jeroen van den Berg, Diana Braat, Victoria M Cruz, Carmen Navarro Luzón, Joost Schimmel, Clara Esteban-Jurado, Maëlys Alemany, Jan Dreyer, Aiko Hendrikx, Francesca Mattiroli, Alexander van Oudenaarden, Marcel Tijsterman, Simon J Elsässer, Puck Knipscheer

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

G-quadruplexes (G4s) are prevalent DNA structures that regulate transcription but also threaten genome stability. How G4 dynamics are controlled remains poorly understood. Here, we report that RNA transcripts govern G4 landscapes through coordinated G-loop assembly and disassembly. G-loop assembly involves activation of the ATM and ATR kinases, followed by homology-directed invasion of RNA opposite the G4 strand mediated by BRCA2 and RAD51. Disassembly of the G-loop resolves the G4 structure through DHX36-FANCJ-mediated G4 unwinding, which triggers nucleolytic incision and subsequent hybrid strand renewal by DNA synthesis. Inhibition of G-loop disassembly causes global G4 and R-loop accumulation, leading to transcriptome dysregulation, replication stress, and genome instability. These findings establish an intricate G-loop assembly-disassembly mechanism that controls G4 landscapes and is essential for cellular homeostasis and survival.

Original languageEnglish
Pages (from-to)1225-1231
Number of pages7
JournalScience (New York, N.Y.)
Volume388
Issue number6752
DOIs
Publication statusPublished - 12 Jun 2025

Keywords

  • Humans
  • Ataxia Telangiectasia Mutated Proteins/genetics
  • BRCA2 Protein/genetics
  • DEAD-box RNA Helicases/genetics
  • DNA Replication
  • G-Quadruplexes
  • Genomic Instability
  • R-Loop Structures
  • Rad51 Recombinase/metabolism
  • RNA/chemistry
  • Transcription, Genetic
  • Transcriptome
  • Animals
  • Xenopus laevis

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