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Updated: Aug 9, 2025

Single-Molecule Fluorescence Visualization of DNA Polymerase Dynamics at G-Quadruplexes
Published on: April 4, 2025
G-Quadruplex Structures Are Key Modulators of Somatic Structural Variants in Cancers
Rongxin Zhang1,2, Huiling Shu1, Yuqi Wang1
1State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing, China.
G-quadruplexes (G4) are key to somatic structural variant (SV) formation in cancers. Active G4 structures, not just potential ones, are linked to SV breakpoints, influencing cancer development.
Area of Science:
- Genomics
- Cancer Biology
- Bioinformatics
Background:
- G-quadruplexes (G4) are noncanonical DNA structures.
- Aberrant G4 formation can compromise genome integrity.
- Understanding the G4-cancer link is crucial for cancer research.
Purpose of the Study:
- To investigate the relationship between G4s and somatic structural variants (SVs) in cancer.
- To elucidate the role of G4 formation in cancer development and progression.
Main Methods:
- Utilized bioinformatic approaches and multiomics data.
- Analyzed somatic SV breakpoints and G4 regions.
- Employed machine learning models to predict SV breakpoint density.
Main Results:
- Somatic SV breakpoints were significantly enriched in active G4 regions.
- Enrichment was influenced by genomic features like TAD boundaries, replication timing, and chromatin status.
- A stronger association between G4s and SVs was observed in cancers with homologous recombination repair defects.
- G4 propensity was a strong predictor of SV breakpoint density.
Conclusions:
- G-quadruplex structure formation is critical in producing somatic SVs in cancers.
- G4 structures play a significant role in modulating somatic SV production.
- G4 structures represent potential targets for cancer prevention and treatment.
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