Stein Paula, Schindler Karen
Department of Biology, University of Pennsylvania, USA.
J Vis Exp. 2011 Jul 23(53):2851. doi: 10.3791/2851.
Mistakes in chromosome segregation lead to aneuploid cells. In somatic cells, aneuploidy is associated with cancer but in gametes, aneuploidy leads to infertility, miscarriages or developmental disorders like Down syndrome. Haploid gametes form through species-specific developmental programs that are coupled to meiosis. The first meiotic division (MI) is unique to meiosis because sister chromatids remain attached while homologous chromosomes are segregated. For reasons not fully understood, this reductional division is prone to errors and is more commonly the source of aneuploidy than errors in meiosis II (MII) or than errors in male meiosis. In mammals, oocytes arrest at prophase of MI with a large, intact germinal vesicle (GV; nucleus) and only resume meiosis when they receive ovulatory cues. Once meiosis resumes, oocytes complete MI and undergo an asymmetric cell division, arresting again at metaphase of MII. Eggs will not complete MII until they are fertilized by sperm. Oocytes also can undergo meiotic maturation using established in vitro culture conditions. Because generation of transgenic and gene-targeted mouse mutants is costly and can take long periods of time, manipulation of female gametes in vitro is a more economical and time-saving strategy. Here, we describe methods to isolate prophase-arrested oocytes from mice and for microinjection. Any material of choice may be introduced into the oocyte, but because meiotically-competent oocytes are transcriptionally silent cRNA, and not DNA, must be injected for ectopic expression studies. To assess ploidy, we describe our conditions for in vitro maturation of oocytes to MII eggs. Historically, chromosome-spreading techniques are used for counting chromosome number. This method is technically challenging and is limited to only identifying hyperploidies. Here, we describe a method to determine hypo-and hyperploidies using intact eggs. This method uses monastrol, a kinesin-5 inhibitor, that collapses the bipolar spindle into a monopolar spindle thus separating chromosomes such that individual kinetochores can readily be detected and counted by using an anti-CREST autoimmune serum. Because this method is performed in intact eggs, chromosomes are not lost due to operator error.
染色体分离错误会导致非整倍体细胞的产生。在体细胞中,非整倍体与癌症相关,但在配子中,非整倍体会导致不孕、流产或发育障碍,如唐氏综合征。单倍体配子通过与减数分裂相关的物种特异性发育程序形成。第一次减数分裂(MI)是减数分裂所特有的,因为姐妹染色单体保持相连,而同源染色体则被分离。由于尚未完全理解的原因,这种减数分裂容易出错,并且比减数分裂II(MII)中的错误或雄性减数分裂中的错误更常是非整倍体的来源。在哺乳动物中,卵母细胞在MI前期停滞,具有一个大的、完整的生发泡(GV;细胞核),只有在接收到排卵信号时才恢复减数分裂。一旦减数分裂恢复,卵母细胞完成MI并经历不对称细胞分裂,再次停滞在MII中期。卵子在被精子受精之前不会完成MII。卵母细胞也可以利用既定的体外培养条件进行减数分裂成熟。由于产生转基因和基因靶向小鼠突变体成本高昂且可能需要很长时间,体外操纵雌性配子是一种更经济、省时的策略。在这里,我们描述了从小鼠中分离处于前期停滞的卵母细胞并进行显微注射的方法。可以将任何选择的物质引入卵母细胞,但由于具有减数分裂能力的卵母细胞转录沉默,因此必须注射cRNA而非DNA用于异位表达研究。为了评估倍性状态,我们描述了将卵母细胞体外成熟为MII期卵子的条件。从历史上看,染色体铺展技术用于计数染色体数量。这种方法在技术上具有挑战性,并且仅限于识别超倍体。在这里,我们描述了一种使用完整卵子确定亚倍体和超倍体的方法。这种方法使用单星,一种驱动蛋白-5抑制剂,它将双极纺锤体折叠成单极纺锤体,从而分离染色体,使得可以通过使用抗CREST自身免疫血清轻松检测和计数单个动粒。因为这种方法是在完整卵子中进行的,染色体不会因操作误差而丢失。