1. Genetic heterogeneity in XP studied by cell fusion and UV-induced unscheduled DNA synthesis (UDS). Top: A schematic representation of the micrograph presented at the bottom. Cultured fibroblasts from two unrelated patients (A and B) were fused, exposed to UV light, pulse labeled with [3 H]thymidine, fixed, and autoradiographed to visualize DNA repair synthesis (UDS). Cells of patient A are marked with engulfed large latex beads and those of patient B with small beads. This marking enables the identification of the fused cells containing nuclei of both patients (heterokaryons). If the patients are mutated in different DNA repair genes (gene A and gene B), the heterokaryon will be able to perform normal levels of DNA repair synthesis (UDS is visualized by wild-type levels of autoradiographic grains in the emulsion above the nuclei). In this case patients A and B belong to two different complementation groups. (From the Department of Cell Biology and Genetics, Erasmus University, Rotterdam, W. Vermeulen and D. Bootsma.)
Source: Nucleotide Excision Repair Syndromes: Xeroderma Pigmentosum, Cockayne Syndrome, and Trichothiodystrophy *This text is a complete revision of Chapter 148, Xeroderma Pigmentosum and Cockayne Syndrome, in the 7th edition of Metabolic and Molecular Bases of Inherited Diseases. Part of this chapter is an updated version of Hoeijmakers JHJ: Human nucleotide excision repair syndromes: Molecular clues to unexpected intricacies, Eur J Cancer 30A(13):1912, 1994; used with permission from Elsevier Science, Ltd., The Boulevard, Lanfordlane, Kidlington OX5 1GB, UK. , The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: November 11, 2017
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