Xeroderma Pigmentosum

作者：Jay H. Robbins, Kenneth H. Kraemer, Marvin A. Lutzner, Barry W. Festoff, HAYDEN G. COON · 发表于：Annals of Internal Medicine · 年份：1974 · DOI：10.7326/0003-4819-80-2-221 · 被引用次数：757 · 研究领域：DNA Repair Mechanisms、Porphyrin Metabolism and Disorders、Carcinogens and Genotoxicity Assessment

Xeroderma pigmentosum is a hereditary disease clinically manifested primarily on sun-exposed skin, which develops abnormal pigmentation and malignant tumors. Mental retardation, areflexia, and other neurological abnormalities are seen in some patients. Only one biochemical defect has been found: cells from various tissues repair ultraviolet-induced deoxyribonucleic acid (DNA) damage slowly, compared with normal cells. Cell fusion studies show that genetic complementation can occur between fibroblasts from certain pairs of patients, thus overcoming the DNA-repair defect in each member of the pair and demonstrating the heterogeneity of the genetic lesion. The patients at NIH who have slow DNA repair comprise four distinct complementation groups, indicating that at least four mutations can cause defective DNA repair.