Ward Jeremy O, Reinholdt Laura G, Hartford Suzanne A, Wilson Lawriston A, Munroe Robert J, Schimenti Kerry J, Libby Brian J, O'Brien Marilyn, Pendola Janice K, Eppig John, Schimenti John C
The Jackson Laboratory, Bar Harbor, Maine 04609, USA.
Biol Reprod. 2003 Nov;69(5):1615-25. doi: 10.1095/biolreprod.103.019877. Epub 2003 Jul 9.
The genetic control of mammalian gametogenesis is inadequately characterized because of a lack of mutations causing infertility. To further the discovery of genes required for mammalian gametogenesis, phenotype-driven screens were performed in mice using random chemical mutagenesis of whole animals and embryonic stem cells. Eleven initial mutations are reported here that affect proliferation of germ cells, meiosis, spermiogenesis, and spermiation. Nine of the mutations have been mapped genetically. These preliminary studies provide baselines for estimating the number of genes required for gametogenesis and offer guidance in conducting new genetic screens that will accelerate and optimize mutant discovery. This report demonstrates the efficacy and expediency of mutagenesis to identify new genes required for mammalian gamete development.
由于缺乏导致不育的突变，哺乳动物配子发生的遗传控制尚未得到充分表征。为了进一步发现哺乳动物配子发生所需的基因，利用对整个动物和胚胎干细胞进行随机化学诱变的方法，在小鼠中进行了表型驱动的筛选。本文报道了11个最初的突变，这些突变影响生殖细胞的增殖、减数分裂、精子发生和精子释放。其中9个突变已进行了遗传定位。这些初步研究为估计配子发生所需基因的数量提供了基线，并为开展新的遗传筛选提供了指导，这些筛选将加速和优化突变体的发现。本报告证明了诱变在鉴定哺乳动物配子发育所需新基因方面的有效性和便捷性。
