• PMID: 31930642
• Gene Name: C3orf62
• Condition: Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility

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

Wu XL, Yun DM, Gao S, Liang AJ, Duan ZZ, Wang HS, Wang GS, Sun F.

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. CI - © 2020 Wiley Periodicals, Inc. FAU - Wu, Xiao-Long AU - Wu XL AD - Medical School, Institute of Reproductive Medicine, Nantong University, Nantong, Jiangsu, China. FAU - Yun, Da-Min AU - Yun DM AD - Medical School, Institute of Reproductive Medicine, Nantong University, Nantong, Jiangsu, China. FAU - Gao, Sheng AU - Gao S AD - Medical School, Institute of Reproductive Medicine, Nantong University, Nantong, Jiangsu, China. FAU - Liang, A-Juan AU - Liang AJ AD - Center for Reproductive Medicine, Shanghai Tongji Hospital, Tongji University School of Medicine, Shanghai, China. FAU - Duan, Zheng-Zheng AU - Duan ZZ AD - Shanghai Key Laboratory for Reproductive Medicine, School of Medicine, International Peace Maternity and Child Health Hospital, Shanghai Jiaotong University, Shanghai, China. FAU - Wang, Han-Shu AU - Wang HS AUID- ORCID: 0000-0002-9996-5114 AD - Shanghai Key Laboratory for Reproductive Medicine, School of Medicine, International Peace Maternity and Child Health Hospital, Shanghai Jiaotong University, Shanghai, China. FAU - Wang, Gui-Shuan AU - Wang GS AUID- ORCID: 0000-0003-0376-413X AD - Medical School, Institute of Reproductive Medicine, Nantong University, Nantong, Jiangsu, China.