Journal
DNA REPAIR
Volume 9, Issue 1, Pages 2-10Publisher
ELSEVIER
DOI: 10.1016/j.dnarep.2009.10.005
Keywords
TFIIH; Transcription; Gene expression regulation; Nucleotide excision repair; Trichothiodystrophy; Xeroderma pigmentosum
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Funding
- Associazione Italiana per la Ricerca Sul Cancro (AIRC)
- European Community [MRTN-CT-2003-503618]
- Italian Ministry of University and Research (FIRB) [RBIN042YJ7]
- Fondazione Cariplo
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Trichothiodystrophy (TTD) is an autosomal recessive disorder with symptoms affecting several tissues and organs. The most relevant features are hair abnormalities, physical and mental retardation, ichthyosis, signs of premature aging and cutaneous photosensitivity. The clinical spectrum of TTD varies widely from patients with only brittle, fragile hair to patients with the most severe neuroectodermal symptoms. To date, four genes have been identified as responsible for TTD: XPD, XPB, p8/TTDA, and TTDN1. Whereas the function of TTDN1 is still unknown, the former three genes encode subunits of TFIIH, the multiprotein complex involved in basal and activated transcription and in nucleotide excision repair (NER). Ongoing investigations on TTD are elucidating not only the pathogenesis of the disease, which appears to be mainly related to transcriptional impairment, but also the modalities of NER and transcription in human cells and how TFIIH operates in these two fundamental cellular processes. (C) 2009 Elsevier B.V. All rights reserved.
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