Marra G, Boland C R
Department of Medicine, University of California at San Diego, La Jolla, USA.
Gastroenterol Clin North Am. 1996 Dec;25(4):755-72. doi: 10.1016/s0889-8553(05)70273-9.
The mismatch repair system plays a major role in the processing of recombination intermediates and in the repair of errors made during DNA replication or resulting from chemical damage to DNA. Human homologues of the bacterial and yeast mismatch repair genes have been recently identified, and mutations in these genes have been found to show risk for tumor development in hereditary nonpolyposis colorectal cancer syndrome (HNPCC). Colorectal tumors bearing homozygous mutations in these mismatch repair genes show a hypermutable phenotype, mainly at microsatellite regions of DNA. The temporal relationship between the loss of mismatch repair activity and the cascades of mutations in critical genes involved in the carcinogenesis of HNPCC tumors is unknown.
错配修复系统在重组中间体的处理以及DNA复制过程中产生的错误或DNA化学损伤所致错误的修复中发挥着重要作用。细菌和酵母错配修复基因的人类同源物最近已被鉴定出来,并且发现这些基因中的突变在遗传性非息肉病性结直肠癌综合征(HNPCC)中显示出肿瘤发生风险。在这些错配修复基因中携带纯合突变的结直肠癌肿瘤表现出高度可变的表型,主要发生在DNA的微卫星区域。错配修复活性丧失与HNPCC肿瘤致癌过程中关键基因突变级联之间的时间关系尚不清楚。