Article
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Human mutation - 1 Oct 2008
Boyle Jennifer, Ueda Takahiro, Oh Kyu-Seon, Imoto Kyoko, Tamura Deborah, Jagdeo Jared, Khan Sikandar G, Nadem Carine, Digiovanna John J, Kraemer Kenneth H
Abstract excerpt
Patients with xeroderma pigmentosum (XP) have a 1,000-fold increase in ultraviolet (UV)-induced skin cancers while trichothiodystrophy (TTD) patients, despite mutations in the same genes, ERCC2 (XPD) or ERCC3 (XPB), are cancer-free. Unlike XP cells, TTD cells have a nearly normal rate of removal of UV-induced 6-4 photoproducts (6-4PP) in their DNA and low levels of the basal transcription factor, TFIIH. We...
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