Molecular basis of epigenetics on the mechanisms of sex determination and its failure

哺乳动物的睾丸发育始于Y连锁的Sry基因的激活，其触发了导致雄性途径的级联事件。为了阐明睾丸分化的调控机制，我们研究了一只具有<pos>真两性畸形性逆转的Y_（1-x）小鼠和一名临床病例性分化障碍（DSD）患者性腺发育的表观遗传学变化。结果表明，在10个家系中，SRY基因的甲基化和乙酰化水平明显高于其它家系，揭示了DSD基因多态性的一些原因。

Testis development in mammals begins with the activation of Y-linked Sry gene, which triggers a cascade of events that lead to male pathway. To clarify the regulation mechanism of testis differentiation, we investigated the epigenetic change of the gonadal development of a unique mouse carrying Y^<pos> that showed sex reversal with true hermaphrodites, and clinical case with disorder of sex differentiation(DSD) patient. We showed that the profiles of methylation and acetylation of SRY gene and revealed some of causation of diversity of DSD.