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[Sex differentiation and sex chromosomes]
Toshikatsu Shinka1, Yutaka Nakahori
1Department of Human Genetics and Public Health, Graduate School of Proteomics, Faculty of Medicine, University of Tokushima.
Abstract:
The mechanisms for sex differentiation and the genes on the sex chromosomes are varied among different species. For human, SRY is the only testis-determining factor on the Y chromosome and triggers the cascade for male sex-determination. However, even if normal SRY exists, the haploinsufficienty of SOX9 or KTS+ splicing form of WT-1 can cause male-to-female sex reversal. Furthermore, the duplication of the partial region on the X chromosome including DAX-1 gene can also cause male-to-female sex reversal. The sex-determining system seems to be sensitive for the gene dosage or the gene expression level.