ArticleAmerican journal of human genetics2015
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39 citing papers in PubMed.
- UV damage mapping reveals different impacts of yeast XPD mutations on global genomic and transcription-coupled DNA repair.The Journal of biological chemistry · 2026Article
- Single-molecule Microscopy Reveals That TFIIE Subunits Dynamically Interact With Preinitiation Complexes in a Manner Impacted by TFIIH.Journal of molecular biology · 2025Article
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- Case Report: Genomic profiling in an invasive solid papillary carcinoma patient with liver metastasis and a history of invasive lobular carcinoma.Pathology oncology research : POR · 2025Article
- ERCC2 mutations alter the genomic distribution pattern of somatic mutations and are independently prognostic in bladder cancer.Cell genomics · 2024Article
- The role of Transcription Factor IIH complex in nucleotide excision repair.Environmental and molecular mutagenesis · 2024Review
- Developing a novel immune infiltration-associated mitophagy prediction model for amyotrophic lateral sclerosis using bioinformatics strategies.Frontiers in immunology · 2024Article
- Characterisation of a novel missense mutation in theBMJ case reports · 2023Article
- RNA polymerase II pausing regulates chromatin organization in erythrocytes.Nature structural & molecular biology · 2023Article
- Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.Cells · 2023Article
- Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.Nature communications · 2023Article
- TFIIH mutations can impact on translational fidelity of the ribosome.Human molecular genetics · 2023Article
- Oxygen toxicity causes cyclic damage by destabilizing specific Fe-S cluster-containing protein complexes.Molecular cell · 2023Article
- Polymorphisms in DNA Repair and Xenobiotic Biotransformation Enzyme Genes and Lung Cancer Risk in Coal Mine Workers.Life (Basel, Switzerland) · 2022Article
- C. elegans TFIIH subunit GTF-2H5/TTDA is a non-essential transcription factor indispensable for DNA repair.Communications biology · 2021Article
- DNA Repair in Haploid Context.International journal of molecular sciences · 2021Review
- Liver Cirrhosis in Chronic Hepatitis B Patients Is Associated with Genetic Variations in DNA Repair Pathway Genes.Cancers · 2020Article
- Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases.Molecular cell · 2020Article
- Universal promoter scanning by Pol II during transcription initiation in Saccharomyces cerevisiae.Genome biology · 2020Article
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4 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Mutations in genes encoding the ERCC3 (XPB), ERCC2 (XPD), and GTF2H5 (p8 or TTD-A) subunits of the transcription and DNA-repair factor TFIIH lead to three autosomal-recessive disorders: xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (XP/CS), and trichothiodystrophy (TTD). Although these diseases were originally associated with defects in DNA repair, transcription deficiencies might be also implicated. By using retinoic acid receptor beta isoform 2 (RARB2) as a model in several cells bearing mutations in genes encoding TFIIH subunits, we observed that (1) the recruitment of the TFIIH complex was altered at the activated RARB2 promoter, (2) TFIIH participated in the recruitment of nucleotide excision repair (NER) factors during transcription in a manner different from that observed during NER, and (3) the different TFIIH variants disturbed transcription by having distinct consequences on post-translational modifications of histones, DNA-break induction, DNA demethylation, and gene-loop formation. The transition from heterochromatin to euchromatin was disrupted depending on the variant, illustrating the fact that TFIIH, by contributing to NER factor recruitment, orchestrates chromatin remodeling. The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals.
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