Kolas N K, Cohen P E
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Cytogenet Genome Res. 2004;107(3-4):216-31. doi: 10.1159/000080600.
The mismatch repair (MMR) family is a highly conserved group of proteins that function in genome stabilization and mutation avoidance. Their role has been particularly well studied in the context of DNA repair following replication errors, and disruption of these processes results in characteristic microsatellite instability, repair defects and, in mammals, susceptibility to cancer. An additional role in meiotic recombination has been described for several family members, as revealed by extensive studies in yeast. More recently, the role of the mammalian MMR family in meiotic progression has been elucidated by the phenotypic analysis of mice harboring targeted mutations in the genes encoding several MMR family members. This review will discuss the phenotypes of the various mutant mouse lines and, drawing from our knowledge of MMR function in yeast meiosis and in somatic cell repair, will attempt to elucidate the significance of MMR activity in mouse germ cells. These studies highlight the importance of comparative analysis of MMR orthologs across species, and also underscore distinct sexually dimorphic characteristics of mammalian recombination and meiosis.
错配修复（MMR）家族是一组高度保守的蛋白质，其功能是稳定基因组并避免突变。它们在复制错误后的DNA修复过程中的作用得到了特别深入的研究，这些过程的破坏会导致特征性的微卫星不稳定性、修复缺陷，在哺乳动物中还会导致易患癌症。正如在酵母中的广泛研究所揭示的，几个家族成员在减数分裂重组中还有额外的作用。最近，通过对编码几个MMR家族成员的基因进行靶向突变的小鼠的表型分析，阐明了哺乳动物MMR家族在减数分裂进程中的作用。本综述将讨论各种突变小鼠品系的表型，并借鉴我们对酵母减数分裂和体细胞修复中MMR功能的了解，试图阐明MMR活性在小鼠生殖细胞中的意义。这些研究突出了跨物种对MMR直系同源物进行比较分析的重要性，也强调了哺乳动物重组和减数分裂明显的性别二态性特征。
