ArticleMolecular and cellular biology2008
Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
Article in Molecular and cellular biology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 84 citations in OpenAlex.
- Persistent TFIIH binding to non-excised DNA damage causes cell and developmental failure.Nature communications · 2024Article
- ASH1L-MRG15 methyltransferase deposits H3K4me3 and FACT for damage verification in nucleotide excision repair.Nature communications · 2023Article
- Structural modeling and analyses of genetic variations in the human XPC nucleotide excision repair protein.Journal of biomolecular structure & dynamics · 2023Article
- Nucleotide excision repair: a versatile and smart toolkit.Acta biochimica et biophysica Sinica · 2022Review
- XPG: a multitasking genome caretaker.Cellular and molecular life sciences : CMLS · 2022Review
- Mechanism of action of nucleotide excision repair machinery.Biochemical Society transactions · 2022Review
- Article
- The Dark Side of UV-Induced DNA Lesion Repair.Genes · 2020Review
- Ubiquitin and TFIIH-stimulated DDB2 dissociation drives DNA damage handover in nucleotide excision repair.Nature communications · 2020Article
- A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.Cold Spring Harbor molecular case studies · 2020Article
- A key interaction with RPA orients XPA in NER complexes.Nucleic acids research · 2020Article
- A chromatin scaffold for DNA damage recognition: how histone methyltransferases prime nucleosomes for repair of ultraviolet light-induced lesions.Nucleic acids research · 2020Article
- DNA Oxidation and Excision Repair Pathways.International journal of molecular sciences · 2019Review
- DNA repair complex licenses acetylation of H2A.Z.1 by KAT2A during transcription.Nature chemical biology · 2019Article
- Single-molecule visualization reveals the damage search mechanism for the human NER protein XPC-RAD23B.Nucleic acids research · 2019Article
- Polynuclear ruthenium organometallic compounds induce DNA damage in human cells identified by the nucleotide excision repair factor XPC.Bioscience reports · 2019Article
- Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.JAMA dermatology · 2019Article
- Molecular basis for damage recognition and verification by XPC-RAD23B and TFIIH in nucleotide excision repair.DNA repair · 2018Review
- DNA damage sensitivity of SWI/SNF-deficient cells depends on TFIIH subunit p62/GTF2H1.Nature communications · 2018Article
- XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1.Nature communications · 2018Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
XPC is responsible for DNA damage sensing in nucleotide excision repair (NER). Mutations in XPC lead to a defect in NER and to xeroderma pigmentosum (XP-C). Here, we analyzed the biochemical properties behind mutations found within three patients: one amino acid substitution (P334H, XP1MI, and GM02096), one amino acid incorporation in a conserved domain (697insVal, XP8BE, and GM02249), and a stop mutation (R579St, XP67TMA, and GM14867). Using these mutants, we demonstrated that HR23B stabilizes XPC on DNA and protects it from degradation. XPC recruits the transcription/repair factor TFIIH and stimulates its XPB ATPase activity to initiate damaged DNA opening. In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutations in XPC perturb other repair processes, such as base excision repair (e.g., the P334H mutation prevents the stimulation of Ogg1 glycosylase because it thwarts the interaction between XPC and Ogg1), thereby leading to a deeper understanding of the molecular repair defect of the XP-C patients.
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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.