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Journal of Applied Genetics 50(4), 2009, pp. 347-360

Genetic mechanisms underlying male sex determination in mammals

R.P. Piprek

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 upregulates Sox9 expression in XY individuals. Afterwards the expression of Sox9 is maintained by a positive feedback loop with Fgf9 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

Key words: Fgf9, gonadal differentiation, Sertoli cells, sex reversal, sex determination, Sry, Sox9

Correspondence: R.P. Piprek, Department of Comparative Anatomy, Institute of Zoology, Jagiellonian University, Ingardena 6, 30-060 Krakow, Poland; e-mail:

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