Genetic mechanisms underlying male sex determination in mammals |
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Authors: | R P Piprek |
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Institution: | (1) Department of Molecular and Cellular Biology, University of Connecticut, Storrs, CT 06260, USA;(2) Department of Zoology, The University of Melbourne, Melbourne, Victoria, 3010, Australia |
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Abstract: | 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. |
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