Shinka Toshikatsu, Nakahori Yutaka
Department of Human Genetics and Public Health, Graduate School of Proteomics, Faculty of Medicine, University of Tokushima.
Nihon Rinsho. 2004 Feb;62(2):247-54.
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.
性别分化的机制以及性染色体上的基因在不同物种之间存在差异。对于人类而言，SRY是Y染色体上唯一的睾丸决定因子，它触发了男性性别决定的级联反应。然而，即使存在正常的SRY，SOX9的单倍剂量不足或WT-1的KTS+剪接形式也会导致男性向女性的性反转。此外，X染色体上包括DAX-1基因在内的部分区域的重复也会导致男性向女性的性反转。性别决定系统似乎对基因剂量或基因表达水平很敏感。
