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.

中文翻译：

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睾丸特异性基因1700102P08Rik对于男性生育至关重要。

男性不育是世界范围内日益严重的问题。通常，男性不育的原因尚不清楚，这阻碍了诊断和治疗。精子发生是一个复杂的过程，受许多睾丸特异性基因的精密调控。在这里，我们报告睾丸特异性基因1700102P08Rik在人类和小鼠中均保守，并在精母细胞中高度表达。为了研究1700102P08Rik在雄性育性中的作用，CRISPR-Cas9产生了敲除小鼠。1700102P08Rik基因敲除的雄性小鼠不育，睾丸和附睾较小，但雌性基因敲除的小鼠保持正常生育力。1700102P08Rik基因敲除的雄性小鼠的精子发生在精母细胞阶段停止，在附睾中未发现精子。1700102P08Rik的缺失引起睾丸细胞凋亡，但不影响睾丸激素，促黄体生成激素和促卵泡激素的血清浓度或同源染色体的突触和重组。我们还发现1700102P08Rik在男性精细胞停滞中被下调。总之，这些结果表明1700102P08Rik基因对于精子发生必不可少，其功能障碍会导致男性不育。