一个人类精子发生相关新基因TSARG7的克隆和初步功能研究(英文)  

Molecular Cloning and Preliminary Function Study of a Novel Human Gene, TSARG7, Related to Spermatogenesis

作　　者：谭小军[1] 黄志平[2] 李蔍芸 聂东宋[1] 钟锠高[1] 傅俊江[1] 卢光琇[1] 

机构地区：[1]中南大学生殖与干细胞工程研究所,长沙410078 [2]中南大学研究生院,长沙410078

出　　处：《Acta Genetica Sinica》2006年第4期294-303,共10页

基　　金：This work was supported by the National Natural Science Foundation of China (No. 30371493 , G1999055901).

摘　　要：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2463bp,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56.295kDa,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。TSARG7mRNA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。A novel human gene TSARG7 （GenBank accession No. AY513610） was identified from a human testis cDNA library by using the mTSARG7 gene （GenBank accession No. AY489184） as an electronic probe. The gene whose full cDNA length is 2 463 bp containing 12 exons and 11 introns is located in the human chromosome 8p11.21. The predicted protein encoded by this gene contains 456 amino acids with a theoretical molecular weight of 56 295 dalton and isoelectric point of 9.13. It is a new member of the acyltransferase family since its sequence possesses the highly conserved PlsC domain existing in all acyltransferase-like proteins. Two groups, the TSARG7 and mTSARG7, the TSARG7 and Au041707, share 97% identity in the 456 amino acids. Expression of the TSARG7 gene is restricted to the testis. Subcellular localization studies show that the EGFP-tagged TSARG7 protein was localized in the cytoplasm of GC- 1 cells. The TSARG7 mRNA expression was initiated in the testis of a 13-year-old boy, and its level increased steadily along with spermatogenesis and sexual maturation of the human. The results of heat stress experiment demonstrate that TSARG7 expression has a relation with temperature. In conclusion, our study suggests that we have cloned a novel human gene and this gene may play an important role in human spermatogenesis and sexual maturation.

关 键 词：TSARG7 基因克隆 睾丸 精子发生 

分 类 号：R346[医药卫生—基础医学] Q78[生物学—分子生物学]