Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida M C, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y
Institute for Molecular and Cellular Biology, Osaka University, Japan.
Nature. 1990 Nov 1;348(6296):73-6. doi: 10.1038/348073a0.
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 gene. 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.
着色性干皮病（XP）是一种常染色体隐性疾病，其特征是阳光诱发的皮肤癌发病率很高。由于DNA修复缺陷，患有这种疾病的人的细胞对紫外线高度敏感。XP有九个基因互补组，A-H组和一个变异组。我们已经克隆了与A组缺陷互补的小鼠DNA修复基因，即XPAC基因。在此我们报告人类和小鼠XPAC互补DNA的分子克隆。XPAC cDNA的表达赋予了几个A组细胞系紫外线抗性，但对其他XP组的细胞系没有作用。几乎所有测试的A组细胞系都显示出XPAC信使RNA异常或缺失。这些结果表明，有缺陷的XPAC基因导致了A组XP。人类和小鼠的XPAC基因分别位于9号染色体q34.1和4号染色体C2上。人类XPAC cDNA编码一种含有锌指基序的273个氨基酸的蛋白质。
