DNA mismatch repair and cancer

DNA mismatch repair and cancer
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DOI:
10.1016/s1383-5742(00)00058-2
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发表时间:
2001-03-01
影响因子:
5.3
通讯作者:
Peltomäki, P
Peltomäki, P
中科院分区:
医学2区
文献类型:
--
作者:
Peltomäki, P

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已鉴定出五种人类 DNA 错配修复基因,当它们发生突变时,会导致遗传性非息肉病性结直肠癌 (HNPCC) 的易感性。 DNA 错配修复基因的两个拷贝的突变失活会导致严重的修复缺陷和整个基因组突变的逐渐积累。有些突变赋予细胞选择性优势,从而引发癌症。最近的发现表明,除了复制后修复之外,DNA 错配修复蛋白还具有其他几种与癌发生高度相关的功能。其中包括 DNA 损伤监测、防止不同序列之间的重组以及参与减数分裂过程(染色体配对)。将简要概述人类 DNA 错配修复系统的这些不同特征,重点是它们在癌症发展中的影响。 (C) 2001 Elsevier Science B.V. 保留所有权利。
Five human DNA mismatch repair genes have been identified that, when mutated, cause susceptibility to hereditary nonpolyposis colorectal cancer (HNPCC). Mutational inactivation of both copies of a DNA mismatch repair gene results in a profound repair defect and progressive accumulation of mutations throughout the genome. Some of the mutations confer selective advantage on the cells, giving rise to cancer. Recent discoveries suggest that apart from postreplication repair, DNA mismatch repair proteins have several other functions that are highly relevant to carcinogenesis. These include DNA damage surveillance, prevention of recombination between nonidentical sequences and participation in meiotic processes (chromosome pairing). A brief overview of these different features of the human DNA mismatch repair system will be provided, with the emphasis in their implications in cancer development. (C) 2001 Elsevier Science B.V. All rights reserved.