Journal
NATURE GENETICS
Volume 26, Issue 3, Pages 307-313Publisher
NATURE AMERICA INC
DOI: 10.1038/81603
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The repair-deficient form of trichothiodystrophy (TTD) most often results from mutations in the genes XPB or XPD. encoding helicases of the transcription/repair factor TFIIH. The genetic defect in a third group, TTD-A, is unknown, but is also caused by dysfunctioning TFIIH. None of the TFIIH subunits carry a mutation and TFIIH from fro-A cells is active in both transcription and repair. Instead, immunoblot and immunofluorescence analyses reveal a strong reduction in the TFIIH concentration. Thus, the phenotype of TTD-A appears to result from sublimiting amounts of TFIIH, probably due to a mutation in a gene determining the complex stability. The reduction of TFIIH mainly affects its repair function and hardly influences transcription.
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