Tcte1 deficiency affect protein translation in sperm and cause asthenospermia in mice

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临床上精子发生障碍最严重的可导致非梗阻性无精子症(Non-Obstructive Azoospermia,NOA),约占所有男性不育症患者的十分之一。遗传变异与NOA发生的易感性密切相关,可通过不同效应强度和机制影响精子发生。前期,本研究团队系统分析了全基因组CNV、低频和高频遗传变异,以及特殊家系的突变与NOA的关联,初步展示了遗传变异与NOA关联的全貌,并且提出和尝试了多种动物模型在解析这些遗
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减数分裂是有性生殖生物配子产生的必需过程,涉及同源染色体的识别、配对、联会、重组和分离等一系列特殊的染色体事件,这些事件的依序、按时发生又有赖于减数分裂前期程序性DNA双链断裂的产生和以同源染色体为模板进行的修复。其中任何步骤出现异常,都会导致精子发生障碍,进而诱发男性不育。功能基因组学的研究表明,400多个基因的缺失会导致小鼠减数分裂异常,但迄今已知的导致人类减数分裂异常进而诱发男性不育的基因尚
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