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Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain

Nature volume 348, pages 73–76 (1990)Cite this article

Abstract

XERODERMA pigmentosum (XP) is an autosomal recessive disease, characterized by a high incidence of sunlight-induced skin cancer. Cells from people with this condition are hypersensitive to ultraviolet because of a defect in DNA repair. There are nine genetic complementation groups of XP, groups A–H and a variant. We have cloned the mouse DNA repair gene that complements the defect of group A, the XPAC gene1. Here we report molecular cloning of human and mouse XPAC complementary DNAs. Expression of XPAC cDNA confers ultraviolet-resistance on several group A cell lines, but not on lines of other XP groups. Almost all group A lines tested showed abnormality or absence of XPAC messenger RNAs. These results indicate that a defective XPAC gene causes group A XP. The human and mouse XPAC genes are located on chromosome 9q34.1 and chromosome 4C2, respectively. Human XPAC cDNA encodes a protein of 273 amino acids with a zinc-finger motif.

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Authors and Affiliations

  1. Institute for Molecular and Cellular Biology,

    Kiyoji Tanaka, Naoyuki Miura, Ichiro Satokata, Iwai Miyamoto & Yoshio Okada

  2. Research Institute for Microbial Diseases, Osaka University, Osaka, 565, Japan

    Hiroto Okayama

  3. Chromosome Research Unit, Faculty of Science, Hokkaido University, Sapporo, 060, Japan

    Michihiro C. Yoshida

  4. Department of Dermatology, Daini-Hospital,Tokyo Women's Medical College, Tokyo, 116, Japan

    Yoshiaki Satoh

  5. Department of Dermatology, Tokyo Medical and Dental University, Tokyo, 113, Japan

    Yoshiaki Satoh & Seiji Kondo

  6. Research Institute for Tuberculosis and Cancer, Tohoku University, Sendai, 980, Japan

    Akira Yasui

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Tanaka, K., Miura, N., Satokata, I. et al. Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. Nature 348, 73–76 (1990). https://doi.org/10.1038/348073a0

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