ArticleHuman mutation2010
XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.PLoS genetics · 2024Article
- Article
- ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease.Investigative ophthalmology & visual science · 2022Article
- CAGI experiments: Modeling sequence variant impact on gene splicing using predictions from computational tools.Human mutation · 2019Article
- Splicing mutations in human genetic disorders: examples, detection, and confirmation.Journal of applied genetics · 2018Review
- Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.Experimental dermatology · 2015Article
- XPC codon 939 polymorphism is associated with susceptibility to DNA damage induced by aflatoxin B1 exposure.International journal of clinical and experimental medicine · 2015Article
- Interaction of DNA repair gene polymorphisms and aflatoxin B1 in the risk of hepatocellular carcinoma.International journal of clinical and experimental pathology · 2014Article
- The maternal ITPK1 gene polymorphism is associated with neural tube defects in a high-risk Chinese population.PloS one · 2014Article
- Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.Journal of medical genetics · 2011Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in two branch-point sequences (BPS) in intron 3 of the XPC DNA repair gene affect pre-mRNA splicing in association with xeroderma pigmentosum (XP) with many skin cancers (XP101TMA) or no skin cancer (XP72TMA), respectively. To investigate the mechanism of these abnormalities we now report that transfection of minigenes with these mutations revealed abnormal XPC pre-mRNA splicing that mimicked pre-mRNA splicing in the patients' cells. DNA oligonucleotide-directed RNase H digestion demonstrated that mutations in these BPS disrupt U2 snRNP-BPS interaction. XP101TMA cells had no detectable XPC protein but XP72TMA had 29% of normal levels. A small amount of XPC protein was detected at sites of localized ultraviolet (UV)-damaged DNA in XP72TMA cells which then recruited other nucleotide excision repair (NER) proteins. In contrast, XP101TMA cells had no detectable recruitment of XPC or other NER proteins. Post-UV survival and photoproduct assays revealed greater reduction in DNA repair in XP101TMA cells than in XP72TMA. Thus mutations in XPC BPS resulted in disruption of U2 snRNP-BPS interaction leading to abnormal pre-mRNA splicing and reduced XPC protein. At the cellular level these changes were associated with features of reduced DNA repair including diminished NER protein recruitment, reduced post-UV survival and impaired photoproduct removal.
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