Abstract
XERODERMA pigmentosum (XP) is a rare human autosomal recessive disease characterized by solar sensitivity, high predisposition for developing cancers on areas exposed to sunlight, and, in some cases, neurological abnormalities1,2. XP cells are defective in DNA repair3, and complementation of this defect has been used to identify eight genetic groups (A–G and variant)4. We have developed a simple, highly efficient complementary DNA expression system for use in human cells5. Here we use this system to isolate a cDNA clone that restores the ultraviolet sensitivity and unscheduled DNA synthesis of XP-C cells to normal levels. The XP-C complementing clone XPCC encodes a highly hydrophilic protein which is composed of a predicted 823 amino acids and shares limited homology with the product of the yeast DNA repair gene RAD4. The XPCC transcript is undetectable by northern blotting in most XP-C cell lines examined.
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Legerski, R., Peterson, C. Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C. Nature 359, 70–73 (1992). https://doi.org/10.1038/359070a0
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DOI: https://doi.org/10.1038/359070a0
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