Proceedings of the National Academy of Sciences of the United States of America · 1975
Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates.
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Kraemer K H, Coon H G, Petinga R A, Barrett S F, Rahe A E, Robbins J H
Аннотация
Fibroblast strains from 12 patients with xeroderma pigmentosum had lower than normal rates of DNA repair, as determined by autoradiographic studies of ultraviolet-induced unscheduled nuclear DNA synthesis. The nuclei in binuclear cells, obtained by fusing fibroblasts from certain pairs of these strains, had a greater rate of DNA repair than the nuclei of either strain's unfused mononuclear cells. These results indicate that complementary corrections of the strains' repair defects had occurred in the fused cells. Four complementation groups were found, indicating that at least four mutations caused decreased DNA repair among these 12 strains. The unfused mononuclear cells of each group had a characteristic rate of repair that differed from the rates of the other groups.