Department of Systems Life Sciences, Graduate School of Systems Life Sciences, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka, 812-8582, Japan.
Department of Molecular Biology, Graduate School of Medical Sciences, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka, 812-8582, Japan.
Sci Rep. 2021 Jan 12;11(1):719. doi: 10.1038/s41598-020-80741-z.
The SRY gene induces testis development even in XX individuals. However, XX/Sry testes fail to produce mature sperm, due to the absence of Y chromosome carrying genes essential for spermatogenesis. XX/Sry Sertoli cells show abnormalities in the production of lactate and cholesterol required for germ cell development. Leydig cells are essential for male functions through testosterone production. However, whether XX/Sry adult Leydig cells (XX/Sry ALCs) function normally remains unclear. In this study, the transcriptomes from XY and XX/Sry ALCs demonstrated that immediate early and cholesterogenic gene expressions differed between these cells. Interestingly, cholesterogenic genes were upregulated in XX/Sry ALCs, although downregulated in XX/Sry Sertoli cells. Among the steroidogenic enzymes, CYP17A1 mediates steroid 17α-hydroxylation and 17,20-lyase reaction, necessary for testosterone production. In XX/Sry ALCs, the latter reaction was selectively decreased. The defects in XX/Sry ALCs, together with those in the germ and Sertoli cells, might explain the infertility of XX/Sry testes.
SRY 基因可诱导 XX 个体的睾丸发育。然而，由于缺乏 Y 染色体携带的精子发生所必需的基因，XX/Sry 睾丸无法产生成熟精子。XX/Sry 支持细胞在产生用于生殖细胞发育的乳酸盐和胆固醇方面表现出异常。Leydig 细胞通过产生睾酮对男性功能至关重要。然而，XX/Sry 成年 Leydig 细胞（XX/Sry ALC）是否正常发挥功能尚不清楚。在这项研究中，XY 和 XX/Sry ALC 的转录组表明这些细胞之间的即刻早期和胆固醇生成基因表达存在差异。有趣的是，尽管 XX/Sry 支持细胞中的胆固醇生成基因下调，但在 XX/Sry ALC 中上调。在类固醇生成酶中，CYP17A1 介导类固醇 17α-羟化和 17,20-裂解反应，这是产生睾酮所必需的。在 XX/Sry ALC 中，后一反应被选择性降低。XX/Sry ALC 的缺陷，以及生殖细胞和支持细胞的缺陷，可能解释了 XX/Sry 睾丸的不育。
