ArticleNucleic acids research2009
The disruptive positions in human G-quadruplex motifs are less polymorphic and more conserved than their neutral counterparts.
Article in Nucleic acids research, 2009. 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.
- 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
- The Epigenomic Features and Potential Functions of PEG- and PDS-Favorable DNA G-Quadruplexes in Rice.International journal of molecular sciences · 2024Article
- Genetic variations in G-quadruplex forming sequences affect the transcription of human disease-related genes.Nucleic acids research · 2023Article
- Analysis of Nucleotide Variations in Human G-Quadruplex Forming Regions Associated with Disease States.Genes · 2023Article
- Genomic distribution and polymorphism of G-quadruplex motifs occupying ovine promoters and enhancers.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Inhibited complete folding of consecutive human telomeric G-quadruplexes.Nucleic acids research · 2023Article
- Noncanonical DNA structures are drivers of genome evolution.Trends in genetics : TIG · 2023Review
- The Pressure Dependence of the Stability of the G-quadruplex Formed by d(TGGGGT).Life (Basel, Switzerland) · 2022Article
- Genome-wide discovery of G-quadruplexes in barley.Scientific reports · 2021Article
- Mgs1 function at G-quadruplex structures during DNA replication.Current genetics · 2021Review
- CNBP Binds and Unfolds In Vitro G-Quadruplexes Formed in the SARS-CoV-2 Positive and Negative Genome Strands.International journal of molecular sciences · 2021Article
- G-quadruplexes: a promising target for cancer therapy.Molecular cancer · 2021Review
- Non-B DNA: a major contributor to small- and large-scale variation in nucleotide substitution frequencies across the genome.Nucleic acids research · 2021Article
- Zuo1 supports G4 structure formation and directs repair toward nucleotide excision repair.Nature communications · 2020Article
- Endogenous oxidized DNA bases and APE1 regulate the formation of G-quadruplex structures in the genome.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Sequence Dynamics of Pre-mRNA G-Quadruplexes in Plants.Frontiers in plant science · 2019Article
- A Fragment-Based Approach for the Development of G-Quadruplex Ligands: Role of the Amidoxime Moiety.Molecules (Basel, Switzerland) · 2018Article
- Mms1 is an assistant for regulating G-quadruplex DNA structures.Current genetics · 2018Review
- The cellular protein nucleolin preferentially binds long-looped G-quadruplex nucleic acids.Biochimica et biophysica acta. General subjects · 2017Article
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3 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Specific guanine-rich sequence motifs in the human genome have considerable potential to form four-stranded structures known as G-quadruplexes or G4 DNA. The enrichment of these motifs in key chromosomal regions has suggested a functional role for the G-quadruplex structure in genomic regulation. In this work, we have examined the spectrum of nucleotide substitutions in G4 motifs, and related this spectrum to G4 prevalence. Data collected from the large repository of human SNPs indicates that the core feature of G-quadruplex motifs, 5'-GGG-3', exhibits specific mutational patterns that preserve the potential for G4 formation. In particular, we find a genome-wide pattern in which sites that disrupt the guanine triplets are more conserved and less polymorphic than their neutral counterparts. This also holds when considering non-CpG sites only. However, the low level of polymorphisms in guanine tracts is not only confined to G4 motifs. A complete mapping of DNA three-mers at guanine polymorphisms indicated that short guanine tracts are the most under-represented sequence context at polymorphic sites. Furthermore, we provide evidence for a strand bias upstream of human genes. Here, a significantly lower rate of G4-disruptive SNPs on the non-template strand supports a higher relative influence of G4 formation on this strand during transcription.
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