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DNA错配修复基因及其与结直肠癌的关联(综述)

DNA mismatch repair genes and their association with colorectal cancer (Review).

作者信息

Whitehouse A, Meredith D M, Markham A F

机构信息

Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St. James's University Hospital, Leeds LS9 7TF, UK.

出版信息

Int J Mol Med. 1998 Feb;1(2):469-74. doi: 10.3892/ijmm.1.2.469.

Abstract

Mismatch repair genes are involved in increasing the fidelity of replication by specific repair of DNA polymerase incorporation errors. In Escherichia coli, the best studied mismatch repair (MMR) pathway is the methyl-directed long patch repair system which is mediated by three gene products; MutS, MutL and MutH. These are conserved in higher eukaryotes. Mutations in human homologues of these proteins have been shown to be implicated in hereditary non-polyposis colorectal cancer (HNPCC). Alterations in the coding regions of MMR genes result in a mutator phenotype with marked instability of microsatellite sequences, indicative of a deficiency in DNA repair.

摘要

错配修复基因通过对DNA聚合酶掺入错误进行特异性修复来提高复制的保真度。在大肠杆菌中,研究得最为透彻的错配修复(MMR)途径是甲基导向的长片段修复系统,该系统由三种基因产物介导,即MutS、MutL和MutH。这些在高等真核生物中是保守的。已证明这些蛋白质的人类同源物中的突变与遗传性非息肉病性结直肠癌(HNPCC)有关。MMR基因编码区的改变会导致突变体表型,微卫星序列明显不稳定,这表明DNA修复存在缺陷。

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