DNA错配修复基因同源物hMLH1的突变与遗传性非息肉病性结直肠癌相关。

Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.

作者信息

Bronner C E, Baker S M, Morrison P T, Warren G, Smith L G, Lescoe M K, Kane M, Earabino C, Lipford J, Lindblom A

机构信息

Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201-3098.

出版信息

Nature. 1994 Mar 17;368(6468):258-61. doi: 10.1038/368258a0.

DOI:10.1038/368258a0

PMID:8145827

Abstract

The human DNA mismatch repair gene homologue hMSH2, on chromosome 2p is involved in hereditary non-polyposis colon cancer (HNPCC). 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, 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.

摘要

位于2号染色体短臂的人类DNA错配修复基因同源物hMSH2与遗传性非息肉病性结直肠癌（HNPCC）相关。基于连锁数据，另一个HNPCC基因座被定位于3号染色体短臂21-23区（参考文献3）。在此我们报告，一个编码与细菌DNA错配修复蛋白MutL同源的蛋白质hMLH1（人类MutL同源物）的人类基因位于人类3号染色体短臂21.3-23区。我们提出hMLH1是位于3号染色体上的HNPCC基因，这是因为hMLH1基因产物与酵母DNA错配修复蛋白MLH1相似，hMLH1基因与3号染色体上的HNPCC基因座位置重合，以及来自一个与3号染色体连锁的HNPCC家系的患病个体中存在hMLH1错义突变。