一个人类精子发生相关新基因TSARG7的克隆和初步功能研究

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精子发生是一个多基因参与的复杂的生理过程,虽然人们克隆了一些与精子发生相关的基因,但迄今为止,人们对精子发生的分子机制了解有限,因而克隆相关的新基因,并研究其在理论上和实践上的功能仍然十分重要.该文从人类睾丸cDNA文库出发,以小鼠精子发生相关基因mTSARG7基因为电子探针,得到1个与人类的精子发生相关的新基因TSARG7(GenBank登录号为AY513610).该基因的cDNA全长为2 463 bp,含有12个外显子和11个内含子,定位在人类8号染色体8p11.21上.TSARG7编码的蛋白质含有456个氨基酸,分子量为56.295 kDa,等电点为9.13,为胞浆中非分泌性蛋白,具有磷酸酰基转移酶(PISC)的结构域,属于酰基转移酶家族的新成员,该家族成员具有脂质合成的功能.TSARG7和mTSARG7,TSARG7和Au041707分别具有97%的同源性.该基因在睾丸中特异表达,亚细胞定位在胞浆中表达.TSARG7 mRNA在13岁的睾丸中开始表达,并且随着精子的发生和性成熟而稳定增加,热应急实验显示该基因的表达与温度相关.综上所述,该文克隆了人的1个新基因,该基因与精子的发生和性成熟相关.
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