Wolf U
Wien Klin Wochenschr. 1982 Jun 11;94(12):303-6.
Sexual differentiation normally proceeds in a series of consecutive steps including sex determination, gonadal differentiation, genital development, and the realization of somatic and psycho-social sex characteristics. Deviations from the normal course are known at each level of this process, resulting in sex reversal and intersexuality. Many of these abnormalities can be traced to genetic mutations. From the level of the differentiated gonad onwards, further sexual development is largely controlled by endocrine functions which are fairly well understood. By contrast, the development of the as yet undifferentiated gonad into either testis or ovary is hormone-independent, and is now believed to be due to the presence or absence of a cell surface component, the H-Y antigen. While the exact mechanism of H-Y antigen action is still under study, its biological function in testicular differentiation is well established. There are a number of mutations which interfere with normal primary gonadal differentiation, and it can be concluded from these mutations that several different genes are involved in this basic step of sexual development. Of these genes comprising the H-Y antigen system, some have regulatory, others structural functions. The H-Y antigen system promises to become a model for the understanding of the genetic control of cellular differentiation.
性分化通常按一系列连续步骤进行，包括性别决定、性腺分化、生殖器发育以及躯体和心理社会性征的形成。在这一过程的每个阶段都可能出现偏离正常进程的情况，从而导致性反转和雌雄间性。其中许多异常情况可追溯到基因突变。从分化的性腺阶段起，进一步的性发育很大程度上受内分泌功能控制，而这方面已得到较好的理解。相比之下，未分化性腺发育为睾丸或卵巢的过程不依赖激素，目前认为这是由于细胞表面成分H-Y抗原的存在与否所致。虽然H-Y抗原作用的确切机制仍在研究中，但其在睾丸分化中的生物学功能已得到充分证实。有许多突变会干扰正常的初级性腺分化，从这些突变可以推断，几个不同的基因参与了性发育的这一基本步骤。在构成H-Y抗原系统的这些基因中，有些具有调节功能，另一些具有结构功能。H-Y抗原系统有望成为理解细胞分化遗传控制的一个模型。
