Summary
Xeroderma pigmentosum (XP) is an autosomal recessive hereditary disease, first described about 100 years ago. Ultraviolet light in solar spectrum has been believed to cause the skin lesions which often develop into skin cancers. Cleaver's discovery (1968) that the defect in repair of UV damage in DNA is responsible for the disease suggested that there is common DNA repair mechanisms between human being and microorganisms in which the molecular mechanisms of the repair defects have been extensively investigated. This prediction has turned out to be generally true by using the techniques similar to those applied in microorganisms.
Fifty XP patients in Japan were examined for their clinical characteristics and the DNA repair of their cells. Results are summarized as follows. (1) More than a half of the patients were children under 13 years of age. (2) Genetic complementation tests were performed on 23 cell strains from the patients; 21 belonging to group A, 1 to D and 1 to E. There was no group C patient which is the most frequent in Europe and U.S.A. (3) Host-cell reactivation of UV-irradiated herpes simplex virus has been shown to be the most reliable method for decisive diagnosis of the XP, reflecting the relative capacities of excision repair.
The high frequency of XP patients with low DNA repair capacities, including group A patients, may account for the apparent high frequency of XP patients in Japan. Age distribution of the cancer bearing patients and their DNA repair characteristics suggest that almost all XP patients except for those with nearly normal level of excision repair have developed or will develop skin cancers.
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References
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Takebe, H. Molecular mechanisms of DNA repair defects and heterogeneity in xeroderma pigmentosum. Jap J Human Genet 22, 129–136 (1977). https://doi.org/10.1007/BF01874279
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DOI: https://doi.org/10.1007/BF01874279