Gene expression and functional abnormalities in XX/Sry Leydig cells

Abstract

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.

Knockout of cyclin dependent kinases 8 and 19 leads to depletion of cyclin C and suppresses spermatogenesis and male fertility in mice

“…Downregulated Lcn2 (Fig. 3D) specifically expressed in Leydig cells codes for a protein of the lipocalin family that transports small hydrophobic molecules including steroids and is affected by fertility manipulations (Kang et al, 2017; Yanai et al, 2021). Another downregulated gene, Fads2 (Fig.…”

Reinke crystals: Hallmarks of adult Leydig cells in humans

“…A study that analyzed gene expression in XX/Sry Leydig cells determined that early and cholesterogenic gene expressions differed compared to normal Leydig cells. Also, CYP17A1 was selectively decreased compared to normal Leydig cells 114 . Transcriptome analysis of Klinefelter syndrome Leydig cells showed that several transcripts were dysregulated.…”

Suppression of the RAS/ERK pathway by Tmsb10 is the key step for promoting fetal Leydig cell differentiation from progenitors

“…qRT-PCR was performed as previously described 66 . In brief, total RNAs (50 ng) prepared using the RNeasy Micro Kit (Qiagen, Hilden, Germany) were reverse-transcribed to cDNA using Moloney Murine Leukemia Virus reverse transcriptase (Thermo Fisher Scientific) and random hexamers (Sigma-Aldrich).…”