Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.

  title={Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.},
  author={E Botta and Tiziana Nardo and A. R. Lehmann and Jean-Marc Egly and Antonia Maria Pedrini and M. Stefanini},
  journal={Human molecular genetics},
  volume={11 23},
Trichothiodystrophy (TTD) is a rare hereditary multisystem disorder associated with defects in nucleotide excision repair (NER) as a consequence of mutations in XPD, XPB or TTDA, three genes that are all related to TFIIH, the multiprotein complex involved in NER and transcription. Here we show that all the mutations found in TTD cases, irrespective of whether they are homozygotes, hemizygotes or compound heterozygotes, cause a substantial and specific reduction (by up to 70%) in the cellular… CONTINUE READING


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