MUTATION IN THE DNA MISMATCH REPAIR GENE HOMOLOG HMLH1 IS ASSOCIATED WITH HEREDITARY NONPOLYPOSIS COLON-CANCER
MUTATION IN THE DNA MISMATCH REPAIR GENE HOMOLOG HMLH1 IS ASSOCIATED WITH HEREDITARY NONPOLYPOSIS COLON-CANCER
复制标题
DOI：
10.1038/368258a0
复制
发表时间：
1994-03-17
期刊：
影响因子：
64.8
通讯作者：
LISKAY, RM
中科院分区：
文献类型：
--
作者：
BRONNER, CE;BAKER, SM;LISKAY, RM
位于2p染色体上的人类DNA错配修复基因同源物hMSH2与遗传性非息肉病性结肠癌（HNPCC）有关（1,2）。根据连锁数据，第二个HNPCC位点被分配到染色体3p21-23上（参考文献3）。在这里，我们报道了一个编码蛋白质hMLH1（人类MutL同源物）的人类基因，它与细菌DNA错配修复蛋白MutL同源，位于人类染色体3p21.3-23上。我们提出hMLH1是位于3p的HNPCC基因，因为hMLH1基因产物与酵母DNA错配修复蛋白MLH1相似（4,5），hMLH1基因与HNPCC位点在3号染色体上的位置一致，并且hMLH1基因在3号染色体连锁的HNPCC家族的受影响个体中有错义突变。
THE human DNA mismatch repair gene homologue, hMSH2, on chromosome 2p is involved in hereditary non-polyposis colon cancer (HNPCC)(1,2). On the basis of linkage data, a second HNPCC locus was assigned to chromosome 3p21-23 (ref. 3). Here we report that a human gene encoding a protein, hMLH1 (human MutL homologue), homologous to the bacterial DNA mismatch repair protein MutL, is located on human chromosome 3p21.3-23. We propose that hMLH1 is the HNPCC gene located on 3p because of the similarity of the hMLH1 gene product to the yeast DNA mismatch repair protein, MLH1(4,5), the coincident location of the hMLH1 gene and the HNPCC locus on chromosome 3, and hMLH1 missense mutations in affected individuals from a chromosome 3-linked HNPCC family.