MALE-MICE DEFECTIVE IN THE DNA MISMATCH REPAIR GENE PMS2 EXHIBIT ABNORMAL CHROMOSOME SYNAPSIS IN MEIOSIS
MALE-MICE DEFECTIVE IN THE DNA MISMATCH REPAIR GENE PMS2 EXHIBIT ABNORMAL CHROMOSOME SYNAPSIS IN MEIOSIS
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DOI：
10.1016/0092-8674(95)90318-6
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发表时间：
1995-07-28
期刊：
影响因子：
64.5
通讯作者：
LISKAY, RM
中科院分区：
文献类型：
--
作者：
BAKER, SM;BRONNER, CE;LISKAY, RM
利用胚胎干细胞中的基因靶向，我们已经衍生出在DNA错配修复基因同源物PMS2中具有无效突变的小鼠。我们观察到微卫星不稳定性的雄性生殖系，在尾巴，并在肿瘤DNA的PMS2缺陷的动物。因此，我们的结论是，PMS2参与DNA错配修复在各种组织。缺乏PMS2的动物似乎容易患肉瘤和淋巴瘤，缺乏PMS2的雄性不育，只产生异常的精子。对减数分裂前期轴向元件和联会复合体形成的分析表明染色体联会异常。这些观察结果表明在减数分裂中错配修复、遗传重组和染色体联会之间存在联系。
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.