Sun Fengyun, Handel Mary Ann
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
Genes (Basel). 2011 Mar 1;2(1):21-35. doi: 10.3390/genes2010021.
In spite of evolutionary conservation of meiosis, many of the genes that control mammalian meiosis are still unknown. We report here that the ENU-induced mutation, identified in a screen to uncover genes that control mouse meiosis, causes failure of spermatocytes to exit meiotic prophase I via the G2/MI transition. Major events of meiotic prophase I occurred normally in affected spermatocytes and known regulators of the meiotic G2/MI transition were present and functional. Deep sequencing of mutant DNA revealed a mutation located in an intron of gene, encoding microtubule-associated protein 2, and levels of transcript were reduced in mutant testes. This evidence implicates MTAP2 as required directly or indirectly for completion of meiosis and normal spermatogenesis in mammals.
尽管减数分裂在进化上具有保守性，但许多控制哺乳动物减数分裂的基因仍然未知。我们在此报告，在一项旨在发现控制小鼠减数分裂基因的筛选中鉴定出的ENU诱导突变，导致精母细胞无法通过G2/MI转换退出减数分裂前期I。减数分裂前期I的主要事件在受影响的精母细胞中正常发生，并且减数分裂G2/MI转换的已知调节因子存在且功能正常。对突变DNA的深度测序揭示了位于编码微管相关蛋白2的基因内含子中的一个突变，并且突变睾丸中该转录本的水平降低。这一证据表明MTAP2直接或间接参与哺乳动物减数分裂的完成和正常精子发生。
