Article
Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality.
PLoS genetics - 1 Apr 2013
Theil Arjan F, Nonnekens Julie, Steurer Barbara, Mari Pierre-Olivier, de Wit Jan, Lemaitre Charlène, Marteijn Jurgen A, Raams Anja, Maas Alex, Vermeij Marcel, Essers Jeroen, Hoeijmakers Jan H J, Giglia-Mari Giuseppina, Vermeulen Wim
Abstract excerpt
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...
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