ArticlePLoS genetics2013
Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 36 citations in OpenAlex.
- Expanding the landscape of nucleotide excision repair disorders: from discovery to therapy.The Journal of clinical investigation · 2025Article
- Transcription-coupled repair: tangled up in convoluted repair.The FEBS journal · 2025Review
- Persistent TFIIH binding to non-excised DNA damage causes cell and developmental failure.Nature communications · 2024Article
- Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.EMBO molecular medicine · 2023Article
- Alkylation of nucleobases by 2-chloro-NAR cancer · 2023Article
- Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.Cells · 2023Article
- Article
- Mechanism of action of nucleotide excision repair machinery.Biochemical Society transactions · 2022Review
- C. elegans TFIIH subunit GTF-2H5/TTDA is a non-essential transcription factor indispensable for DNA repair.Communications biology · 2021Article
- How to limit the speed of a motor: the intricate regulation of the XPB ATPase and translocase in TFIIH.Nucleic acids research · 2020Article
- The basal transcription factor II H subunit Tfb5 is required for stress response and pathogenicity in the tangerine pathotype of Alternaria alternata.Molecular plant pathology · 2020Article
- Review
- DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging.American journal of human genetics · 2019Review
- Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.American journal of human genetics · 2019Article
- Small molecule-based targeting of TTD-A dimerization to control TFIIH transcriptional activity represents a potential strategy for anticancer therapy.The Journal of biological chemistry · 2018Article
- Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.BMC medical genetics · 2018Article
- Analysis of Drosophila p8 and p52 mutants reveals distinct roles for the maintenance of TFIIH stability and male germ cell differentiation.Open biology · 2016Article
- TFIIH: New Discoveries Regarding its Mechanisms and Impact on Cancer Treatment.Journal of Cancer · 2016Review
- The NER-related gene GTF2H5 predicts survival in high-grade serous ovarian cancer patients.Journal of gynecologic oncology · 2016Article
- Deletion at 6q24.2-26 predicts longer survival of high-grade serous epithelial ovarian cancer patients.Molecular oncology · 2015Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 2 countries.
Funding
Abstract
The ten-subunit transcription factor IIH (TFIIH) plays a crucial role in transcription and nucleotide excision repair (NER). Inactivating mutations in the smallest 8-kDa TFB5/TTDA subunit cause the neurodevelopmental progeroid repair syndrome trichothiodystrophy A (TTD-A). Previous studies have shown that TTDA is the only TFIIH subunit that appears not to be essential for NER, transcription, or viability. We studied the consequences of TTDA inactivation by generating a Ttda knock-out (Ttda(-/-) ) mouse-model resembling TTD-A patients. Unexpectedly, Ttda(-/-) mice were embryonic lethal. However, in contrast to full disruption of all other TFIIH subunits, viability of Ttda(-/-) cells was not affected. Surprisingly, Ttda(-/-) cells were completely NER deficient, contrary to the incomplete NER deficiency of TTD-A patient-derived cells. We further showed that TTD-A patient mutations only partially inactivate TTDA function, explaining the relatively mild repair phenotype of TTD-A cells. Moreover, Ttda(-/-) cells were also highly sensitive to oxidizing agents. These findings reveal an essential role of TTDA for life, nucleotide excision repair, and oxidative DNA damage repair and identify Ttda(-/-) cells as a unique class of TFIIH mutants.
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Registered trials
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