Molecular genetics of sex determination and gonad development

双性障碍-从尿道下裂（尿道口错位）到完全性逆转的严重程度-令人惊讶地普遍，估计高达所有活产婴儿的4%。这些疾病通常导致不孕、生殖器畸形、性别错误分配和长期心理创伤。这些问题的原因通常是负责胚胎中睾丸或卵巢正常发育的基因调控的微妙网络的失败。这项研究计划将确定对性别决定和性腺发育重要的基因，找出这些基因如何发挥作用和相互作用，并发现它们如何导致人类性发育异常。澳大利亚拥有三位在性别决定方面最重要的国际研究人员。他们的贡献对该领域的发展至关重要，包括鉴定和表征主睾丸决定基因和其他性别决定关键基因。他们现在建议将他们在人类分子遗传学，小鼠发育生物学和蛋白质化学方面的专业知识集中起来，为我们对人类性发育及其相关疾病的认识带来惊人的进步。这些信息将用于改善性发育障碍患者的临床护理。

Intersex disorders - ranging in severity from hypospadias (misplacement of the urethral opening) to complete sex reversal - are surprisingly common, with estimates as high as 4% of all live births. These disorders usually result in infertility, genital abnormalities, gender mis-assignment and long-term psychological trauma. The cause of these problems is most often the failure of the delicate network of gene regulation that is responsible for proper development of testes or ovaries in the embryo. This research program will identify genes important for sex determination and development of the gonads, find out how these genes function and interact, and discover how they contribute to cases of aberrant sexual development in humans. Australia boasts three of the foremost international researchers in sex determination. Their contributions have been fundamental to the advancement of the field, including the identification and characterization of the master testis determining gene and other genes critical for sex determination. They now propose to pool their expertise in human molecular genetics, mouse developmental biology and protein chemistry to bring spectacular advances in our knowledge of human sexual development and its associated disorders. This information will be used to bring improved clinical care to patients withdisorders of sexual development.