Aquilina G, Bignami M
Laboratorio di Tossicologia Comparata ed Ecotossicologia, Istituto Superiore di Sanità, Rome, Italy.
Ann Ist Super Sanita. 1996;32(1):123-31.
Microsatellite instability was first identified in colon cancer and later shown to be due to mutations in genes responsible for correction of DNA mismatches. Several human mismatch correction genes that are homologous to those of yeast and bacteria have been identified and are mutated in families affected by the hereditary non-polyposis colorectal carcinoma (HNPCC) syndrome. Similar alterations have been also found in some sporadic colorectal cancers. The mismatch repair pathway corrects DNA replication errors and repair-defective colorectal carcinoma cell lines exhibit a generalized mutator phenotype. An additional consequence of mismatch repair defects is cellular resistance, or tolerance, to certain DNA damaging agents.
微卫星不稳定性最初在结肠癌中被发现，后来证明是由于负责校正DNA错配的基因突变所致。已经鉴定出几种与酵母和细菌的基因同源的人类错配修复基因，并且在受遗传性非息肉病性结直肠癌（HNPCC）综合征影响的家族中发生了突变。在一些散发性结直肠癌中也发现了类似的改变。错配修复途径可纠正DNA复制错误，而修复缺陷的结直肠癌细胞系表现出普遍的突变体表型。错配修复缺陷的另一个后果是细胞对某些DNA损伤剂的抗性或耐受性。
