Department of Genetics and Institute of Biotechnology, University of Granada, Laboratory 127 CIBM, Center for Biomedical Research, Armilla, Granada, Spain.
Histol Histopathol. 2012 Nov;27(11):1361-83. doi: 10.14670/HH-27.1361.
Mammals have an XX/XY sex chromosomal sex determination system in which males represent the heterogametic sex. The Y-linked gene, SRY, determines sex by inducing the undifferentiated, bipotential gonads to differentiate as testes, which produce androgens and promote in this way the development of a male phenotype. Thus, in mammals, sex determination can be equated to testis determination, which involves several important cell processes, including Sertoli cell differentiation, mesonephric cell migration, testis cord formation, testis-specific vascularization, and myoid and Leydig cell differentiation. Many genes are currently known to be involved in testis development. Some of them, including SF1, WT1, GATA4 and FOG2, are necessary for the formation of the bipotential, undifferentiated gonad but also have important roles in testis differentiation. Others can be considered testis-promoting, differentaition and/or maintenance genes: these include SRY, SOX9, FGF9, PTGDS, SOX8, SOX3, NR0B1, PDGFRa, DMRT1, AMH, NGF, NTF3 and NGFR as the most important examples. Finally, there is a smaller group of genes which are involved in ovarian development and which can cause aberrant testis development if mutated, including RSPO1, WNT4, CTNNB1, FST, BMP2 and FOXL2. In this paper, we review our current knowledge on the function, spatio-temporal expression pattern and mutant sexual phenotypes associated with these genes, and discuss the various roles they play in gonad development.
哺乳动物具有 XX/XY 性染色体性别决定系统，其中雄性代表异型性。Y 连锁基因 SRY 通过诱导未分化的双能性腺分化为睾丸来决定性别，睾丸产生雄激素并以此促进雄性表型的发育。因此，在哺乳动物中，性别决定可以等同于睾丸决定，其中涉及几个重要的细胞过程，包括支持细胞分化、中肾细胞迁移、睾丸索形成、睾丸特异性血管生成以及肌样细胞和间质细胞分化。目前已知许多基因参与睾丸发育。其中一些基因，包括 SF1、WT1、GATA4 和 FOG2，对于形成双能、未分化的性腺是必要的，但在睾丸分化中也具有重要作用。其他基因可以被认为是促进睾丸发育、分化和/或维持的基因：这些包括 SRY、SOX9、FGF9、PTGDS、SOX8、SOX3、NR0B1、PDGFRa、DMRT1、AMH、NGF、NTF3 和 NGFR 等，是最重要的例子。最后，还有一小部分基因参与卵巢发育，如果突变，会导致异常的睾丸发育，包括 RSPO1、WNT4、CTNNB1、FST、BMP2 和 FOXL2。本文综述了我们目前对这些基因的功能、时空表达模式和突变体性别表型的了解，并讨论了它们在性腺发育中所起的各种作用。
