Article
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
Human molecular genetics - 15 Oct 2001
Broughton B C, Berneburg M, Fawcett H, Taylor E M, Arlett C F, Nardo T, Stefanini M, Menefee E, Price V H, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer K H, Lehmann A R
Abstract excerpt
The xeroderma pigmentosum group D (XPD) protein is a subunit of transcription factor TFIIH with DNA helicase activity. TFIIH has two functions, in basal transcription and nucleotide excision repair. Mutations in XPD that affect DNA repair but not transcription result in the skin cancer-prone disorder, xeroderma pigmentosum (XP). If transcription is also affected, the result is the multi-system disorder...
Topics
- Adult
- Amino Acid Sequence
- Apoptosis
- Base Sequence
- Cell Survival
- Cells, Cultured
- Child, Preschool
- DNA Helicases
- DNA Mutational Analysis
- DNA, Complementary