[Xeroderma pigmentosum].
Xeroderma pigmentosum (XP), an autosomal recessive disorder, is characterized by extreme sensitivity to sun exposure, a high incidence of skin cancer and frequent neurological abnormalities. Cells from XP patients of seven complementation groups (A-G) have defects in the nucleotide excision repair of UV damage, whereas the defect of another type, the XP variant, is not yet known. Recent discoveries of causative genes of XP have uncovered the molecular mechanisms of nucleotide excision repair. The analysis of gene mutation in XPA gene made a diagnosis of patients and carriers quicker and easier. Further, a relationship between the type of XPA gene mutation and clinical severity has also been uncovered. By analysing skin cancers developed on XP patients, the representative of UV-induced skin cancers, the molecular bases of UV skin carcinogenesis have also been rapidly discovered.
Department of Dermatology, Kobe University School of Medicine.
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Ueda
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Ichihashi
D000818:Animals; D004260:DNA Repair / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D014983:Xeroderma Pigmentosum / Q000175:diagnosis / Q000235:genetics