Human xeroderma pigmentosum group D gene encodes a DMA helicase (original) (raw)

Nature volume 365, pages 852–855 (1993)Cite this article

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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Author notes

  1. Patrick Sung, Véronique Bailly, Louise Prakash & Satya Prakash
    Present address: Sealy Center for Molecular Science, University of Texas Medical Branch, 6.104 Medical Research Bldg, J61, Galveston, Texas, 77555, USA
  2. Véronique Bailly and Louise Prakash: Department of Biophysics, University of Rochester School of Medicine, Rochester, New York 14642, USA
  3. Christine Weber and Larry H. Thompson: Lawrence Livermore National Laboratory, Biology and Biotechnology Research Program, Livermore, California 94550, USA

Authors and Affiliations

  1. Department of Biology, University of Rochester, Rochester, New York, 14627, USA
    Patrick Sung, Véronique Bailly, Christine Weber, Larry H. Thompson, Louise Prakash & Satya Prakash

Authors

  1. Patrick Sung
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  2. Véronique Bailly
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  3. Christine Weber
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  4. Larry H. Thompson
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  5. Louise Prakash
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  6. Satya Prakash
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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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