ArticleFrontiers in genetics2015
Sites of instability in the human TCF3 (E2A) gene adopt G-quadruplex DNA structures in vitro.
Article in Frontiers in genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 21 citations in OpenAlex.
- G-quadruplex stabilization provokes DNA breaks in human PKD1, revealing a second hit mechanism for ADPKD.Nature communications · 2025Article
- Application of G-quadruplex targets in gastrointestinal cancers: Advancements, challenges and prospects.World journal of gastrointestinal oncology · 2023Review
- G-quadruplexes folding mediates downregulation of PBX1 expression in melanoma.Signal transduction and targeted therapy · 2023Article
- Diversity upon diversity: linking DNA double-strand break repair to blood cancer health disparities.Trends in cancer · 2022Review
- Cleavage-defective Topoisomerase I mutants sharply increase G-quadruplex-associated genomic instability.Microbial cell (Graz, Austria) · 2022Article
- G-quadruplexes: a promising target for cancer therapy.Molecular cancer · 2021Review
- Article
- Characterization of long G4-rich enhancer-associated genomic regions engaging in a novel loop:loop 'G4 Kissing' interaction.Nucleic acids research · 2020Article
- Response of Sulfolobus solfataricus Dpo4 polymerase in vitro to a DNA G-quadruplex.Mutagenesis · 2019Article
- G-quadruplexes may determine the landscape of recombination in HSV-1.BMC genomics · 2019Article
- The Interplay between G-quadruplex and Transcription.Current medicinal chemistry · 2019Review
- Concept of DNA Lesion Longevity and Chromosomal Translocations.Trends in biochemical sciences · 2018Review
- The Top1 paradox: Friend and foe of the eukaryotic genome.DNA repair · 2017Review
- Review
- G-quadruplex DNA structures can interfere with uracil glycosylase activity in vitro.Mutagenesis · 2016Article
- The role of topoisomerase I in suppressing genome instability associated with a highly transcribed guanine-rich sequence is not restricted to preventing RNA:DNA hybrid accumulation.Nucleic acids research · 2016Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
The formation of highly stable four-stranded DNA, called G-quadruplex (G4), promotes site-specific genome instability. G4 DNA structures fold from repetitive guanine sequences, and increasing experimental evidence connects G4 sequence motifs with specific gene rearrangements. The human transcription factor 3 (TCF3) gene (also termed E2A) is subject to genetic instability associated with severe disease, most notably a common translocation event t(1;19) associated with acute lymphoblastic leukemia. The sites of instability in TCF3 are not randomly distributed, but focused to certain sequences. We asked if G4 DNA formation could explain why TCF3 is prone to recombination and mutagenesis. Here we demonstrate that sequences surrounding the major t(1;19) break site and a region associated with copy number variations both contain G4 sequence motifs. The motifs identified readily adopt G4 DNA structures that are stable enough to interfere with DNA synthesis in physiological salt conditions in vitro. When introduced into the yeast genome, TCF3 G4 motifs promoted gross chromosomal rearrangements in a transcription-dependent manner. Our results provide a molecular rationale for the site-specific instability of human TCF3, suggesting that G4 DNA structures contribute to oncogenic DNA breaks and recombination.
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