ArticleScientific reports2017
Cancer-associated noncoding mutations affect RNA G-quadruplex-mediated regulation of gene expression.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 47 citations in OpenAlex.
- Peptide-directed folding of the elusive RNA i-motif.Chemical science · 2026Article
- UTR-DynaPro: a CNN-transformer multimodal language model for decoding 5'UTR regulatory mechanisms.Scientific reports · 2026Article
- Systematic identification of variant-specific RNA structure-small molecule interactions exemplified by RNA G-quadruplexes.Nature communications · 2026Article
- Substitution Spectrum and Selection at G-quadruplexes in Great Ape Telomere-to-Telomere Genomes.Genome biology and evolution · 2026Article
- RNA G-quadruplexes in oncogene regulation and as emerging targets for cancer therapy.Cell communication and signaling : CCS · 2026Review
- G4mer: An RNA language model for transcriptome-wide identification of G-quadruplexes and disease variants from population-scale genetic data.Nature communications · 2025Article
- RNA G-quadruplexes: emerging regulators of gene expression and therapeutic targets.Functional & integrative genomics · 2025Review
- Structural Features of 5' Untranslated Region in Translational Control of Eukaryotes.International journal of molecular sciences · 2025Review
- Human genomic DNA is widely interspersed with i-motif structures.The EMBO journal · 2024Article
- Genetic polymorphism in untranslated regions of PRKCZ influences mRNA structure, stability and binding sites.BMC cancer · 2024Article
- G-Quadruplex Forming DNA Sequence Context Is Enriched around Points of Somatic Mutations in a Subset of Multiple Myeloma Patients.International journal of molecular sciences · 2024Article
- A 5' UTR Language Model for Decoding Untranslated Regions of mRNA and Function Predictions.Nature machine intelligence · 2024Article
- Genetic variations in G-quadruplex forming sequences affect the transcription of human disease-related genes.Nucleic acids research · 2023Article
- ALS-linked TDP-43 mutations interfere with the recruitment of RNA recognition motifs to G-quadruplex RNA.Scientific reports · 2023Article
- Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.JPGN reports · 2022Article
- An atypical RNA quadruplex marks RNAs as vectors for gene silencing.Nature structural & molecular biology · 2022Article
- Probing RNA structures and functions by solvent accessibility: an overview from experimental and computational perspectives.Briefings in bioinformatics · 2022Review
- New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s).MethodsX · 2022Article
- 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
- An Updated Focus on Quadruplex Structures as Potential Therapeutic Targets in Cancer.International journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cancer is a multifactorial disease driven by a combination of genetic and environmental factors. Many cancer driver mutations have been characterised in protein-coding regions of the genome. However, mutations in noncoding regions associated with cancer have been less investigated. G-quadruplex (G4) nucleic acids are four-stranded secondary structures formed in guanine-rich sequences and prevalent in the regulatory regions. In this study, we used published whole cancer genome sequence data to find mutations in cancer patients that overlap potential RNA G4-forming sequences in 5' UTRs. Using RNAfold, we assessed the effect of these mutations on the thermodynamic stability of predicted RNA G4s in the context of full-length 5' UTRs. Of the 217 identified mutations, we found that 33 are predicted to destabilise and 21 predicted to stabilise potential RNA G4s. We experimentally validated the effect of destabilising mutations in the 5' UTRs of BCL2 and CXCL14 and one stabilising mutation in the 5' UTR of TAOK2. These mutations resulted in an increase or a decrease in translation of these mRNAs, respectively. These findings suggest that mutations that modulate the G4 stability in the noncoding regions could act as cancer driver mutations, which present an opportunity for early cancer diagnosis using individual sequencing information.
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