TSC1/TSC2二聚体及其在细胞生长调控中的作用  

TSC1/TSC2 Heterodimer and Its Role in Cell Growth Regulation

作　　者：秦毅[1] 王彦凤[1] 王志钢[1] 

机构地区：[1]内蒙古大学生命科学学院,呼和浩特010021

出　　处：《生物技术通报》2013年第9期38-42,共5页Biotechnology Bulletin

基　　金：国家自然基金项目(31160469);内蒙古自然基金项目(2011MS0521)

摘　　要：Tsc1和Tsc2是常染色体基因,在体内作为抑癌基因广泛表达,表达产物Hamartin/TSC1和Tuberin/TSC2直接相互作用形成异二聚体(TSC1/TSC2)而起作用。Tsc1和Tsc2突变可导致一种显性遗传性多系统并发症,即复合型结节性硬化症(tuberous sclerosis complex,TSC),具有很高的表现度和多样的并发表征,成人和小孩分别有1/8 000和1/6 000的几率受到TSC的影响。TSC1/TSC2能响应生长因子、胰岛素及各类环境胁迫信号,并发挥其靶向小G蛋白Rheb的GAP(GTPase active protein,GAP)活性,经由Rheb/mTORC1(mammalian target of rapamycin complex1)模式信号途径来调控细胞生长、分化及迁移并在胚胎发育及机体代谢过程中发挥重要的功能。综述Tsc1和Tsc2的分子遗传特性及其产物TSC1/TSC2在细胞生长调控中的作用。Tsc1 and Tsc2 as a tumor suppressor gene are widely expressed in human body,which were located at autosome.Their expression products Hamartin/TSC1 and Tuberin/TSC2 directly interact to form heterodimer（TSC1/TSC2）and become active.Tuberous Sclerosis Complex（TSC）occurred because of the mutations of Tsc1 and Tsc2.It is a kind of autosomal dominant multi-system complications with a high penetrance.The incidence of TSC was 1/8 000 and 1/6 000 in adults and children,respectively.TSC1/TSC2 heterodimer can mediate the growth factors,insulin and various environmental stress signals to target the small G protein Rheb GAP（GTPase active protein,GAP） activity and inhibits the activity of mTORC1（mammalian target of rapamycin complex 1）.TSC1/TSC2 heterodimer regulates cell growth,migration,differentiation and plays key role in metabolism and embryo development.The genetic characterization of Tsc1 and Tsc2 and the function of their products in cell growth regulation were reviewed.

关 键 词：TSC1 TSC2 细胞生长 信号通路 

分 类 号：Q75[生物学—分子生物学]