Thompson L H, Carrano A V, Sato K, Salazar E P, White B F, Stewart S A, Minkler J L, Siciliano M J
Biomedical Sciences Division, Lawrence Livermore National Laboratory, California 94550.
Somat Cell Mol Genet. 1987 Sep;13(5):539-51. doi: 10.1007/BF01534495.
The CHO UV-sensitive mutants UV24 and UV135 (complementation groups 3 and 5, respectively) are defective in nucleotide excision repair. After fusing each mutant with human lymphocytes, resistant hybrid clones showing genetic complementation were isolated by repeated exposure to UV radiation. Using a combination of isozyme markers, DNA probes, and cytogenetic methods to analyze the primary hybrids and their subclones, correction of the repair defect was shown to be correlated with the presence of a specific human chromosome in each case. Chromosome 2 corrected UV24, and the gene responsible was designated ERCC3. Line UV135 was corrected by human chromosome 13 and the gene designated ERCC5. The UV-sensitive mouse cell line, Q31, was shown not to complement UV135 and thus appears to be mutated in the same genetic locus (homologous to ERCC5) as UV135. Breakage of complementing chromosomes with retention of the genes correcting repair defects allowed the following provisional assignments: regional localization of ERCC5 to 13q14-q34, exclusion of ERCC3 from the region of chromosome 2 distal to p23, and relief of the ambiguity of ACP1 assignment (2p23 or 2p25) to 2p23 proximal to MDH1.
中国仓鼠卵巢细胞（CHO）的紫外线敏感突变体UV24和UV135（分别属于互补群3和5）在核苷酸切除修复方面存在缺陷。将每个突变体与人淋巴细胞融合后，通过反复暴露于紫外线辐射，分离出显示基因互补的抗性杂交克隆。使用同工酶标记、DNA探针和细胞遗传学方法相结合，对初级杂交体及其亚克隆进行分析，结果表明修复缺陷的纠正与每种情况下特定人类染色体的存在相关。2号染色体纠正了UV24，负责的基因被命名为ERCC3。UV135系由人类13号染色体纠正，该基因被命名为ERCC5。紫外线敏感的小鼠细胞系Q31被证明不能与UV135互补，因此似乎在与UV135相同的基因位点（与ERCC5同源）发生了突变。互补染色体的断裂以及纠正修复缺陷的基因的保留使得可以进行以下初步定位：将ERCC5区域定位到13q14 - q34，将ERCC3排除在2号染色体p23远端区域之外，并将ACP1定位（2p23或2p25）的模糊性消除到MDH1近端的2p23。
