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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
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Updated: Nov 21, 2025

Isolate Cell-Type-Specific RNAs from Snap-Frozen Heterogeneous Tissue Samples without Cell Sorting
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Gene expression and functional abnormalities in XX/Sry Leydig cells.

Shogo Yanai1, Takashi Baba1,2, Kai Inui1

  • 1Department of Systems Life Sciences, Graduate School of Systems Life Sciences, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka, 812-8582, Japan.

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|January 13, 2021
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Summary

The SRY gene initiates male development in XX individuals, but these XX/Sry testes cannot produce sperm. This study reveals defects in XX/Sry adult Leydig cells (XX/Sry ALCs) contributing to male infertility.

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Area of Science:

  • Reproductive Biology
  • Genetics
  • Endocrinology

Background:

  • The SRY gene is crucial for initiating male sex determination, even in XX individuals, leading to testis development.
  • However, XX/Sry testes exhibit impaired spermatogenesis and infertility, suggesting additional Y-linked factors are essential.
  • The function of adult Leydig cells (ALCs) in XX/Sry individuals remains poorly understood, despite their critical role in testosterone production.

Purpose of the Study:

  • To investigate the functional integrity of adult Leydig cells (ALCs) in XX/Sry individuals.
  • To compare the transcriptomic profiles of XY ALCs and XX/Sry ALCs.
  • To identify specific molecular defects in XX/Sry ALCs that may contribute to male infertility.

Main Methods:

  • Transcriptomic analysis (RNA sequencing) of isolated adult Leydig cells from both XY and XX/Sry individuals.
  • Differential gene expression analysis focusing on immediate early genes and cholesterogenic pathways.
  • Enzymatic activity assays or expression analysis of key steroidogenic enzymes, particularly CYP17A1.

Main Results:

  • Significant differences in immediate early and cholesterogenic gene expression were observed between XY ALCs and XX/Sry ALCs.
  • Cholesterogenic genes were found to be upregulated in XX/Sry ALCs, contrasting with their downregulation in XX/Sry Sertoli cells.
  • A selective decrease in the 17,20-lyase activity of CYP17A1 was identified in XX/Sry ALCs, impacting testosterone synthesis.

Conclusions:

  • XX/Sry adult Leydig cells (XX/Sry ALCs) exhibit distinct molecular characteristics compared to their XY counterparts.
  • Defects in XX/Sry ALCs, including altered gene expression and impaired CYP17A1 activity, contribute to reduced testosterone production.
  • These Leydig cell abnormalities, alongside previously identified issues in germ and Sertoli cells, provide a comprehensive explanation for the infertility observed in XX/Sry testes.