Genetics of intersex: Antagonism between male and female pathways during gonadal development

双性遗传学：性腺发育过程中男性和女性途径之间的拮抗

• 批准号: nhmrc : 611810
• 负责人: Dr Pascal Bernard
• 金额: $ 37.86万
• 依托单位: Prince Henry's Institute of Medical Research
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2010
• 资助国家: 澳大利亚
• 起止时间: 2010-01-01 至 2012-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/genetics-intersex-antagonism-gonadal-development/99656
• 关键词: Genetics; intersex; Antagonism; between; male

Disorders of sex Development (DSD) are congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Estimates suggest that between 1-100 and 1-300 live birth have DSD; however, the underlying genetic defect is unknown in 80% of cases. Generally, the fate of the gonad, testis or ovary, is determined by the balanced action of male (SRY) and female (Wnt- b-catenin) genes. How do these genes oppose each other? Is this antagonism deregulated in DSD patients?

性发育障碍（DSD）是染色体、性腺或解剖性发育不典型的先天性疾病。据估计，1-100至1-300名活产婴儿患有DSD；然而，潜在的遗传缺陷在80%的病例中是未知的。一般来说，性腺，睾丸或卵巢的命运是由男性（SRY）和女性（Wnt- b-catenin）基因的平衡作用决定的。这些基因是如何相互对立的？这种拮抗作用在DSD患者中是否解除了？