一种与酵母RAD2具有同源性的ERCC5基因与G组着色性干皮病有关。

An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum.

作者信息

Shiomi T, Harada Y, Saito T, Shiomi N, Okuno Y, Yamaizumi M

机构信息

Division of Genetics, National Institute of Radiological Sciences, Chiba, Japan.

出版信息

Mutat Res. 1994 Mar;314(2):167-75. doi: 10.1016/0921-8777(94)90080-9.

DOI:10.1016/0921-8777(94)90080-9

PMID:7510366

Abstract

We have isolated a human excision repair gene ERCC5 which complements the defect of the mouse UV-sensitive mutant XL216 (rodent complementation group 5). Here we report cDNA cloning of human and mouse ERCC5 genes using an exon containing an ERCC5 fragment as a probe. The ERCC5 cDNA encodes a predicted 133-kDa nuclear protein that shares some homology with the product of the yeast DNA repair gene RAD2. Transfection with mouse ERCC5 cDNA restored normal levels of UV resistance to XL216 cells. Microinjection of ERCC5 cDNA specifically restored the defect of xeroderma pigmentosum group G cells (XP-G) as measured by unscheduled DNA synthesis, and XP-G cells stably transformed with ERCC5 cDNA showed nearly normal UV resistance.

摘要

我们分离出了一种人类切除修复基因ERCC5，它能弥补小鼠紫外线敏感突变体XL216（啮齿动物互补组5）的缺陷。在此我们报告，使用包含ERCC5片段的外显子作为探针，对人类和小鼠ERCC5基因进行cDNA克隆。ERCC5 cDNA编码一种预测分子量为133 kDa的核蛋白，它与酵母DNA修复基因RAD2的产物有一些同源性。用小鼠ERCC5 cDNA转染可使XL216细胞的紫外线抗性恢复到正常水平。通过非定标性DNA合成检测，显微注射ERCC5 cDNA能特异性弥补着色性干皮病G组细胞（XP-G）的缺陷，用ERCC5 cDNA稳定转化的XP-G细胞表现出近乎正常的紫外线抗性。