Westerveld A, Hoeijmakers J H, van Duin M, de Wit J, Odijk H, Pastink A, Wood R D, Bootsma D
Nature. 1984;310(5976):425-9. doi: 10.1038/310425a0.
Cell strains derived from patients having a hereditary disorder associated with defects in repair of DNA damage such as xeroderma pigmentosum and mutants isolated from established rodent cell lines provide the tools for genetic and biochemical analysis of DNA repair pathways in mammalian cells. Complementation studies using these cells have illustrated the genetic and biochemical complexity of these pathways. The precise nature of the genes and gene products involved in these mutants has not yet been resolved. Isolation of repair genes by recombinant DNA technology would open up new approaches to the elucidation of repair mechanisms in mammalian cells. Here we report the molecular cloning of a human repair gene (ERCC1) that complements the repair defect in a Chinese hamster ovary (CHO) mutant cell line.
源自患有与DNA损伤修复缺陷相关的遗传性疾病(如着色性干皮病)患者的细胞系,以及从已建立的啮齿动物细胞系中分离出的突变体,为哺乳动物细胞中DNA修复途径的遗传和生化分析提供了工具。使用这些细胞进行的互补研究揭示了这些途径的遗传和生化复杂性。这些突变体中涉及的基因和基因产物的确切性质尚未得到解决。通过重组DNA技术分离修复基因将为阐明哺乳动物细胞中的修复机制开辟新的途径。在此,我们报告了一个人类修复基因(ERCC1)的分子克隆,该基因可弥补中国仓鼠卵巢(CHO)突变细胞系中的修复缺陷。