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Genetic mechanisms underlying male sex determination in mammals.
Journal of Applied Genetics ( IF 2.0 ) Pub Date : 2009 , DOI: 10.1007/bf03195693
R P Piprek 1
Affiliation  

Genetic control of gonadal development proceeds through either the male or female molecular pathways, driving bipotential gonadal anlage differentiation into a testis or ovary. Antagonistic interactions between the 2 pathways determine the gonadal sex. Essentially sex determination is the enhancement of one of the 2 pathways according to genetic sex. Initially, Sry with other factors upregulatesSox9 expression in XY individuals. Afterwards the expression ofSox9 is maintained by a positive feedback loop withFgf9 and prostaglandin D2 as well as by autoregulative ability of Sox9. If these factors reach high concentrations, then Sox9 and/or Fgf9 may inhibit the female pathway. Surprisingly, splicing, nuclear transport, and extramatrix proteins may be involved in sex determination. The male sex determination pathway switches on the expression of genes driving Sertoli cell differentiation. Sertoli cells orchestrate testicular differentiation. In the absence of Sry, the predomination of the female pathway results in the realization of a robust genetic program that drives ovarian differentiation.

中文翻译:

哺乳动物男性性别决定的遗传机制。

性腺发育的遗传控制通过雄性或雌性分子途径进行,驱动双潜能性腺原基分化为睾丸或卵巢。2 条通路之间的拮抗相互作用决定了性腺性别。本质上,性别决定是根据遗传性别增强 2 条途径之一。最初,Sry 与其他因素一起上调XY 个体中的Sox9表达。之后,Sox9的表达由Fgf9和前列腺素 D 2的正反馈回路维持以及 Sox9 的自动调节能力。如果这些因子达到高浓度,则 Sox9 和/或 Fgf9 可能会抑制雌性通路。令人惊讶的是,剪接、核转运和外基质蛋白可能参与性别决定。男性性别决定途径开启驱动支持细胞分化的基因表达。支持细胞协调睾丸分化。在没有 Sry 的情况下,雌性通路的主导作用导致实现驱动卵巢分化的强大遗传程序。
更新日期:2020-09-22
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