ArticleNucleic acids research2002
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.
Article in Nucleic acids research, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 7 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
60 citing papers in PubMed, 7 syntheses or guidelines pooled it, 161 citations in OpenAlex.
- Association between the BRCA2 rs144848 polymorphism and cancer susceptibility: a meta-analysis.Oncotarget · 2017Pooled it
- XPC Lys939Gln polymorphism contributes to colorectal cancer susceptibility: evidence from a meta-analysis.Diagnostic pathology · 2014Pooled it
- Associations between polymorphisms of the XPC gene and lung cancer susceptibility: a meta-analysis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Association of XPC gene polymorphisms with susceptibility to prostate cancer: evidence from 3,936 subjects.Genetic testing and molecular biomarkers · 2013Pooled it
- An association between XPC Lys939Gln polymorphism and the risk of bladder cancer: a meta-analysis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2013Pooled it
- A meta-analysis of evidences on XPC polymorphisms and lung cancer susceptibility.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2013Pooled it
- A meta-analysis of DNA repair gene XPC polymorphisms and cancer risk.Journal of human genetics · 2008Pooled it
- Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.PLoS genetics · 2024Article
- Co-infection of HSV-1 amplicons containing theBiochemistry and biophysics reports · 2024Article
- Genetic polymorphisms as potential pharmacogenetic biomarkers for platinum-based chemotherapy in non-small cell lung cancer.Molecular biology reports · 2024Review
- Alternatively Spliced Isoforms of the P2X7 Receptor: Structure, Function and Disease Associations.International journal of molecular sciences · 2022Review
- Review
- The correlation between polymorphisms in theTranslational pediatrics · 2021Article
- The genetic structure of SARS-CoV-2 does not rule out a laboratory origin: SARS-COV-2 chimeric structure and furin cleavage site might be the result of genetic manipulation.BioEssays : news and reviews in molecular, cellular and developmental biology · 2021Article
- Article
- Genetic variants of nucleotide excision repair pathway and outcomes of induction therapy in acute myeloid leukemia.Personalized medicine · 2019Article
- Interaction of polymorphisms in xeroderma pigmentosum group C with cigarette smoking and pancreatic cancer risk.Oncology letters · 2018Article
- Splice variants of the endonucleases XPF and XPG contain residual DNA repair capabilities and could be a valuable tool for personalized medicine.Oncotarget · 2018Article
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- Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
XPC DNA repair gene mutations result in the cancer-prone disorder xeroderma pigmentosum. The XPC gene spans 33 kb and has 16 exons (82-882 bp) and 15 introns (0.08-5.4 kb). A 1.6 kb intron was found within exon 5. Sensitive real- time quantitative reverse transcription-polymerase chain reaction methods were developed to measure full-length XPC mRNA (the predominant form) and isoforms that skipped exons 4, 7 or 12. Exon 7 was skipped in approximately 0.07% of XPC mRNAs, consistent with the high information content of the exon 7 splice acceptor and donor sites (12.3 and 10.4 bits). In contrast, exon 4 was skipped in approximately 0.7% of the XPC mRNAs, consistent with the low information content of the exon 4 splice acceptor (-0.1 bits). A new common C/A single nucleotide polymorphism in the XPC intron 11 splice acceptor site (58% C in 97 normals) decreased its information content from 7.5 to 5.1 bits. Fibroblasts homozygous for A/A had significantly higher levels (approximately 2.6-fold) of the XPC mRNA isoform that skipped exon 12 than those homozygous for C/C. This abnormally spliced XPC mRNA isoform has diminished DNA repair function and may contribute to cancer susceptibility.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.