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哺乳动物中的DNA错配修复:在疾病和减数分裂中的作用

DNA mismatch repair in mammals: role in disease and meiosis.

作者信息

Arnheim N, Shibata D

机构信息

Molecular Biology Program, University of Southern California, Los Angeles 90089-1340, USA.

出版信息

Curr Opin Genet Dev. 1997 Jun;7(3):364-70. doi: 10.1016/s0959-437x(97)80150-5.

Abstract

The understanding of mammalian mismatch repair (MMR) gene function has been accelerated as a result of progress on several fronts. First, the biochemical analysis of MMR has been advanced by the production of purified human MMR proteins which will eventually allow reconstitution of MMR activity in vitro. Second, a wealth of clinical studies on colon cancer patients have begun to allow correlations to be made among MMR mutations, tumor types, therapeutic approaches and clinical outcomes. Finally, new unexpected meiotic phenotypes have been associated with mutations in certain mouse MMR genes.

摘要

由于在多个方面取得的进展,对哺乳动物错配修复(MMR)基因功能的理解得到了加速。首先,通过生产纯化的人类MMR蛋白,MMR的生化分析取得了进展,这最终将使体外重建MMR活性成为可能。其次,大量针对结肠癌患者的临床研究已开始使人们能够在MMR突变、肿瘤类型、治疗方法和临床结果之间建立关联。最后,新的意外减数分裂表型已与某些小鼠MMR基因的突变相关联。

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