Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer

H van Steeg, KH Kraemer - Molecular medicine today, 1999 - cell.com
H van Steeg, KH Kraemer
Molecular medicine today, 1999cell.com
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease that is characterized
by the extreme sensitivity of the skin to sunlight. Compared to normal individuals, XP
patients have a more than 1000-fold increased risk of developing cancer on sun-exposed
areas of the skin. Genetic and molecular analyses have revealed that the repair of ultraviolet
(UV)-induced DNA damage is impaired in XP patients owing to mutations in genes that form
part of a DNA-repair pathway known as nucleotide excision repair (NER). Two other …
Abstract
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease that is characterized by the extreme sensitivity of the skin to sunlight. Compared to normal individuals, XP patients have a more than 1000-fold increased risk of developing cancer on sun-exposed areas of the skin. Genetic and molecular analyses have revealed that the repair of ultraviolet (UV)-induced DNA damage is impaired in XP patients owing to mutations in genes that form part of a DNA-repair pathway known as nucleotide excision repair (NER). Two other diseases, Cockayne syndrome (CS) and the photosensitive form of trichothiodystrophy (TTD), are linked to a defect in the NER pathway. Strikingly, although CS and TTD patients are UV-sensitive, they do not develop skin cancer. The recently developed animal models that mimic the human phenotypes of XP, CS and TTD will contribute to a better understanding of the etiology of these diseases and the role of UV-induced DNA damage in the development of skin cancer.
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