The testis-specific gene 1700102P08Rik is essential for male fertility

Mol Reprod Dev. 2020 Feb;87(2):231-240. doi: 10.1002/mrd.23314. Epub 2020 Jan 12.

Abstract

Male infertility is a rising problem around the world. Often the cause of male infertility is unclear, and this hampers diagnosis and treatment. Spermatogenesis is a complex process under sophisticated regulation by many testis-specific genes. Here, we report the testis-specific gene 1700102P08Rik is conserved in both the human and mouse and highly expressed in spermatocytes. To investigate the role of 1700102P08Rik in male fertility, knockout mice were generated by CRISPR-Cas9. 1700102P08Rik knockout male mice were infertile with smaller testis and epididymis, but female knockout mice retained normal fertility. Spermatogenesis in the 1700102P08Rik knockout male mouse was arrested at the spermatocyte stage, and no sperm were found in the epididymis. The deletion of 1700102P08Rik causes apoptosis in the testis but did not affect the serum concentration of testosterone, luteinizing hormone, and follicle-stimulating hormone or the synapsis and recombination of homologous chromosomes. We also found that 1700102P08Rik is downregulated in spermatocyte arrest in men. Together, these results indicate that the 1700102P08Rik gene is essential for spermatogenesis and its dysfunction leads to male infertility.

Keywords: 1700102P08Rik; male infertility; spermatogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis / genetics
  • Cells, Cultured
  • Down-Regulation / genetics
  • Female
  • Fertility / genetics*
  • Follicle Stimulating Hormone, Human / blood
  • Gene Knockout Techniques
  • Genes, Essential*
  • Humans
  • Infertility, Male / blood
  • Infertility, Male / genetics*
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Luteinizing Hormone / blood
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred ICR
  • Mice, Knockout
  • Proteins / genetics*
  • Spermatocytes / metabolism
  • Spermatogenesis / genetics
  • Testis / pathology
  • Testis / physiopathology*
  • Testosterone / blood

Substances

  • 1700102P08Rik protein, mouse
  • C3orf62 protein, human
  • Follicle Stimulating Hormone, Human
  • Intercellular Signaling Peptides and Proteins
  • Proteins
  • Testosterone
  • Luteinizing Hormone