ArticleNucleic acids research2014
Potential non-B DNA regions in the human genome are associated with higher rates of nucleotide mutation and expression variation.
Article in Nucleic acids research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed.
- Variation and selection at predicted G-quadruplexes across the human pangenome.bioRxiv : the preprint server for biology · 2026Article
- Mapping Patterns of G-Quadruplex-Forming Sequence Conservation in Primates.Journal of molecular evolution · 2026Article
- Substitution Spectrum and Selection at G-quadruplexes in Great Ape Telomere-to-Telomere Genomes.Genome biology and evolution · 2026Article
- Non-B DNA structures and their contributions to genetic diversity, aging, and disease.Nucleic acids research · 2026Review
- Assessment and Mitigation of CRISPR-Cas9-Induced Nontargeted Translocations.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Review
- Differential Gene Expression followingInternational journal of molecular sciences · 2024Article
- Mutations atMolecular and cellular biology · 2024Article
- Detection of alternative DNA structures and its implications for human disease.Molecular cell · 2023Review
- Cancer driver mutations: predictions and reality.Trends in molecular medicine · 2023Review
- Integrative genomic analyses of promoter G-quadruplexes reveal their selective constraint and association with gene activation.Communications biology · 2023Article
- Revisiting mutagenesis at non-B DNA motifs in the human genome.Nature structural & molecular biology · 2023Article
- Noncanonical DNA structures are drivers of genome evolution.Trends in genetics : TIG · 2023Review
- Variation in G-quadruplex sequence and topology differentially impacts human DNA polymerase fidelity.DNA repair · 2022Article
- Creation and resolution of non-B-DNA structural impediments during replication.Critical reviews in biochemistry and molecular biology · 2022Article
- Chromosome organization affects genome evolution in Sulfolobus archaea.Nature microbiology · 2022Article
- Alternative splicing modulation by G-quadruplexes.Nature communications · 2022Article
- High-throughput characterization of the role of non-B DNA motifs on promoter function.Cell genomics · 2022Article
- Review
- ATRX promotes heterochromatin formation to protect cells from G-quadruplex DNA-mediated stress.Nature communications · 2021Article
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8 authors.
Funding
Abstract
While individual non-B DNA structures have been shown to impact gene expression, their broad regulatory role remains elusive. We utilized genomic variants and expression quantitative trait loci (eQTL) data to analyze genome-wide variation propensities of potential non-B DNA regions and their relation to gene expression. Independent of genomic location, these regions were enriched in nucleotide variants. Our results are consistent with previously observed mutagenic properties of these regions and counter a previous study concluding that G-quadruplex regions have a reduced frequency of variants. While such mutagenicity might undermine functionality of these elements, we identified in potential non-B DNA regions a signature of negative selection. Yet, we found a depletion of eQTL-associated variants in potential non-B DNA regions, opposite to what might be expected from their proposed regulatory role. However, we also observed that genes downstream of potential non-B DNA regions showed higher expression variation between individuals. This coupling between mutagenicity and tolerance for expression variability of downstream genes may be a result of evolutionary adaptation, which allows reconciling mutagenicity of non-B DNA structures with their location in functionally important regions and their potential regulatory role.
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