Nordqvist K
Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institute, Stockholm, Sweden.
Int J Dev Biol. 1995 Oct;39(5):727-36.
During embryogenesis, most organ rudiments differentiate into only one type of organ and functional mutations are normally lethal for the embryo. However, the indifferent gonad has two options, to form either a testis or an ovary, and mutations of this tissue usually produce sex reversal or sterility which is not lethal for the individual. Therefore, gonadal development serves as an excellent model system for investigating questions of cell fate and organogenesis. The studies of human patients showing different types of sex reversal, in combination with the use of transgenic mice and/or gene targeting disruption, have led to the isolation of several genes important for sex development. These include SRY/Sry, encoding the testis-determining factor, Ftz-F1 encoding steroidogenic factor 1 (SF-1) and Wilms' tumor gene (WT-1). However, the mammalian sex differentiation pathway requires the function of a number of additional genes which we are now trying to identify with the help of mRNA differential display technique.
在胚胎发生过程中,大多数器官原基仅分化为一种类型的器官,功能突变通常对胚胎是致死的。然而,未分化的性腺有两种选择,即形成睾丸或卵巢,该组织的突变通常会导致性反转或不育,但对个体并不致命。因此,性腺发育是研究细胞命运和器官发生问题的极佳模型系统。对表现出不同类型性反转的人类患者进行研究,并结合使用转基因小鼠和/或基因靶向敲除技术,已导致分离出几个对性别发育很重要的基因。这些基因包括编码睾丸决定因子的SRY/Sry、编码类固醇生成因子1(SF-1)的Ftz-F1和威尔姆斯瘤基因(WT-1)。然而,哺乳动物的性别分化途径还需要许多其他基因的功能,我们现在正借助mRNA差异显示技术来试图鉴定这些基因。