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

Kiyoji Tanaka, Naoyuki Miura, Ichiro Satokata, Iwai Miyamoto, Michihiro C. Yoshida, Yoshiaki Satoh, Seiji Kondo, Akira Yasui, Hiroto Okayama, Yoshio Okada

    Research output: Contribution to journalArticlepeer-review

    327 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)73-76
    Number of pages4
    JournalNature
    Volume348
    Issue number6296
    DOIs
    Publication statusPublished - 1990

    ASJC Scopus subject areas

    • General

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