Novel Gene Regulation in Normal and Abnormal Spermatogenesis

Cells. 2021 Mar 17;10(3):666. doi: 10.3390/cells10030666.


Spermatogenesis is a complex and dynamic process which is precisely controlledby genetic and epigenetic factors. With the development of new technologies (e.g., single-cell RNA sequencing), increasingly more regulatory genes related to spermatogenesis have been identified. In this review, we address the roles and mechanisms of novel genes in regulating the normal and abnormal spermatogenesis. Specifically, we discussed the functions and signaling pathways of key new genes in mediating the proliferation, differentiation, and apoptosis of rodent and human spermatogonial stem cells (SSCs), as well as in controlling the meiosis of spermatocytes and other germ cells. Additionally, we summarized the gene regulation in the abnormal testicular microenvironment or the niche by Sertoli cells, peritubular myoid cells, and Leydig cells. Finally, we pointed out the future directions for investigating the molecular mechanisms underlying human spermatogenesis. This review could offer novel insights into genetic regulation in the normal and abnormal spermatogenesis, and it provides new molecular targets for gene therapy of male infertility.

Keywords: functions and mechanisms; genes; male infertility; regulation; spermatogenesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Apoptosis / physiology
  • Cell Differentiation / physiology
  • Gene Expression Regulation / genetics*
  • Humans
  • Infertility, Male / genetics*
  • Male
  • Sertoli Cells / metabolism*
  • Spermatogenesis / genetics*
  • Spermatogenesis / physiology