Abstract
XERODERMA pigmentosum (XP), a genetically heterogeneous human disease, results from a defect in nucleotide excision repair of ultraviolet-damaged DNA. XP patients are extremely sensitive to sunlight and suffer from a high incidence of skin cancers. Cell fusion studies have identified seven XP complementation groups, A–G1–3. Group D is of particular interest as mutations in this gene can also cause Cockayne's syndrome and trichothiodystrophy4. The XPD gene was initially named ERCC2 (excision repair cross complementing) as it was cloned using human DNA to complement the ultraviolet sensitivity of a rodent cell line5. We have purified the XPD protein to near homogeneity and show that it possesses single-stranded DNA-dependent ATPase and DNA helicase activities. We tested whether XPD can substitute for its yeast counterpart RAD3, which is essential for excision repair and for cell viability6. Expression of the XPD gene in Saccharomyces cerevisiae can complement the lethality defect of a mutation in the RAD3 gene6, suggesting that XPD is an essential gene in humans.
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Sung, P., Bailly, V., Weber, C. et al. Human xeroderma pigmentosum group D gene encodes a DMA helicase. Nature 365, 852–855 (1993). https://doi.org/10.1038/365852a0
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DOI: https://doi.org/10.1038/365852a0
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