Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: sun sensitivity, DNA repair defects and skin cancer

摘要: Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease [1] with combination of clinical, cellular and molecular features which initially generated an intellectually satisfying simple association between defects in DNA repair, increased mutability cancer proneness. As the study XP patients has proceeded, however, interesting anomalies unanticipated complexities have been uncovered. In particular, as consequence using model, two other, extremely rare but not cancer-prone, diseases, Cockayne syndrome (CS) trichothiodystrophy (TTD) [2] extended apparent relationship repair to wide spectrum associated clinical features. The three conditions complex — there are few individuals both CS, mutations one genes can give rise alone, or TTD alone. order understand damage/repair revealed XP, it necessary all at levels.