Article
Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.
Nature genetics - 1 Oct 1998
Coin F, Marinoni J C, Rodolfo C, Fribourg S, Pedrini A M, Egly J M
Abstract excerpt
In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD) patients carry mutations in the carboxy-terminal domain of the evolutionarily conserved helicase XPD, which is one of the subunits of the transcription/repair factor TFIIH (refs 1,2). In this study, we demonstrate t...
Topics
- DNA Helicases
- DNA Repair
- DNA-Binding Proteins
- Hair Diseases
- Humans
- Mutation
- Protein Conformation
- Proteins
- Transcription Factor TFIIH
- Transcription Factors
- Transcription Factors, TFII
- Xeroderma Pigmentosum
- Xeroderma Pigmentosum Group D Protein