Molecular mechanisms of DNA repair defects and heterogeneity in xeroderma pigmentosum

Abstract

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.