Baker S M, Bronner C E, Zhang L, Plug A W, Robatzek M, Warren G, Elliott E A, Yu J, Ashley T, Arnheim N, Flavell R A, Liskay R M
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201-3098, USA.
Cell. 1995 Jul 28;82(2):309-19. doi: 10.1016/0092-8674(95)90318-6.
Using gene targeting in embryonic stem cells, we have derived mice with a null mutation in a DNA mismatch repair gene homolog, PMS2. We observed microsatellite instability in the male germline, in tail, and in tumor DNA of PMS2-deficient animals. We therefore conclude that PMS2 is involved in DNA mismatch repair in a variety of tissues. PMS2-deficient animals appear prone to sarcomas and lymphomas. PMS2-deficient males are infertile, producing only abnormal spermatozoa. Analysis of axial element and synaptonemal complex formation during prophase of meiosis I indicates abnormalities in chromosome synapsis. These observations suggest links among mismatch repair, genetic recombination, and chromosome synapsis in meiosis.
利用胚胎干细胞中的基因靶向技术，我们培育出了DNA错配修复基因同源物PMS2发生无效突变的小鼠。我们在PMS2缺陷动物的雄性生殖系、尾巴和肿瘤DNA中观察到微卫星不稳定性。因此，我们得出结论，PMS2参与多种组织中的DNA错配修复。PMS2缺陷动物似乎易患肉瘤和淋巴瘤。PMS2缺陷的雄性不育，只产生异常精子。对减数分裂I前期轴元件和联会复合体形成的分析表明染色体联会存在异常。这些观察结果提示了减数分裂中错配修复、基因重组和染色体联会之间的联系。
