PMID: 3767846Jan 1, 1986Paper

DNA repair and replication in xeroderma pigmentosum and related disorders

Basic Life Sciences
J E Cleaver

Abstract

Xeroderma pigmentosum (XP), ataxia telangiectasia (AT), and Cockayne syndrome (CS) are human diseases that exhibit increased sensitivity to environmental carcinogens [e.g., ultraviolet (UV) light, ionizing radiations, chemicals] because of genetic defects in the patient's capacity to repair and replicate damaged DNA accurately. The major defect in XP is a failure to repair UV damage to DNA; in AT, the failure is in repair or replication of double-strand breaks in DNA; in CS, the failure is in recovery of DNA replication after UV irradiation. Cancer is a major clinical feature of XP and AT, but not of CS. Each disease is complex, with multiple groups defined by complementation in cell-cell hybridization. Overlap is reported between some XP and CS groups. UV-sensitive hamster cell mutants are also known: most of these complement XP groups, and a human gene on chromosome 19 can correct the defects in hamster mutants, but not XP. XP group C is distinct from the other groups in exhibiting a strongly clustered mode of repair, as if only certain regions of the genome can be mended. This mode mainly occurs in confluent group C cells under conditions that permit much greater survival than in exponential growth, and therefore represents ...Continue Reading

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