ArticleHuman genetics2015
G-quadruplex formation enhances splicing efficiency of PAX9 intron 1.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed.
- Variation and selection at predicted G-quadruplexes across the human pangenome.bioRxiv : the preprint server for biology · 2026Article
- Review
- Chromatin-Associated RNAs Regulate Gene Expression and Chromatin Structure.Non-coding RNA · 2025Review
- Insight into the epigenetic regulation of gene expression in the bloodstream and procyclic forms ofNAR genomics and bioinformatics · 2025Article
- G-Quadruplexes in Human Telomere: Structures, Properties, and Applications.Molecules (Basel, Switzerland) · 2023Review
- The phenotype and genotype of PAX9 mutations causing tooth agenesis.Clinical oral investigations · 2023Article
- Small molecule-based detection of non-canonical RNA G-quadruplex structures that modulate protein translation.Nucleic acids research · 2022Article
- Secondary structures in RNA synthesis, splicing and translation.Computational and structural biotechnology journal · 2022Review
- Biophysical characterisation of the Bcl-x pre-mRNA and binding specificity of the ellipticine derivative GQC-05: Implication for alternative splicing regulation.Frontiers in molecular biosciences · 2022Article
- RNA G-quadruplexes (rG4s): genomics and biological functions.Nucleic acids research · 2021Review
- Folding Stability of Pax9 Intronic G-Quadruplex Correlates with Relative Molar Size in Eutherians.Molecular biology and evolution · 2021Article
- Antisense oligonucleotide development for the selective modulation of CYP3A5 in renal disease.Scientific reports · 2021Article
- Effects of CpG methylation on the thermal stability ofBBA advances · 2021Article
- The regulation and functions of DNA and RNA G-quadruplexes.Nature reviews. Molecular cell biology · 2020Review
- Intrinsic Regulatory Role of RNA Structural Arrangement in Alternative Splicing Control.International journal of molecular sciences · 2020Review
- Structure Validation of G-Rich RNAs in Noncoding Regions of the Human Genome.Chembiochem : a European journal of chemical biology · 2020Article
- An RNA guanine quadruplex regulated pathway to TRAIL-sensitization by DDX21.RNA (New York, N.Y.) · 2020Article
- SSRome: an integrated database and pipelines for exploring microsatellites in all organisms.Nucleic acids research · 2019Article
- Identification of G-quadruplex clusters by high-throughput sequencing of whole-genome amplified products with a G-quadruplex ligand.Scientific reports · 2018Article
- Specific G-quadruplex ligands modulate the alternative splicing of Bcl-X.Nucleic acids research · 2018Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
G-quadruplexes are secondary structures present in DNA and RNA molecules, which are formed by stacking of G-quartets (i.e., interaction of four guanines (G-tracts) bounded by Hoogsteen hydrogen bonding). Human PAX9 intron 1 has a putative G-quadruplex-forming region located near exon 1, which is present in all known sequenced placental mammals. Using circular dichroism (CD) analysis and CD melting, we showed that these sequences are able to form highly stable quadruplex structures. Due to the proximity of the quadruplex structure to exon-intron boundary, we used a validated double-reporter splicing assay and qPCR to analyze its role on splicing efficiency. The human quadruplex was shown to have a key role on splicing efficiency of PAX9 intron 1, as a mutation that abolished quadruplex formation decreased dramatically the splicing efficiency of human PAX9 intron 1. The less stable, rat quadruplex had a less efficient splicing when compared to human sequences. Additionally, the treatment with 360A, a strong ligand that stabilizes quadruplex structures, further increased splicing efficiency of human PAX9 intron 1. Altogether, these results provide evidences that G-quadruplex structures are involved in splicing efficiency of PAX9 intron 1.
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