• PMID: 28008940
• Gene Name: MKRN2
• Condition: Spermiogenesis defects
• Association: Associated
• Sex: Male
• Infertility type: Male infertility

Deficiency of Mkrn2 causes abnormal spermiogenesis and spermiation, and impairs male fertility

Qian X, Wang L, Zheng B, Shi ZM, Ge X, Jiang CF, Qian YC, Li DM, Li W, Liu X, Yin Y, Zheng JT, Shen H, Wang M, Guo XJ, He J, Lin M, Liu LZ, Sha JH, Jiang BH.

Although recent studies have shed insights on some of the potential causes of male infertility, new underlining molecular mechanisms still remain to be elucidated. Makorin-2 (Mkrn2) is an evolutionarily conserved gene whose biological functions are not fully known. We developed an Mrkn2 knockout mouse model to study the role of this gene, and found that deletion of Mkrn2 in mice led to male infertility. Mkrn2 knockout mice produced abnormal sperms characterized by low number, poor motility, and aberrant morphology. Disruption of Mkrn2 also caused failure of sperm release (spermiation failure) and misarrangement of ectoplasmic specialization (ES) in testes, thus impairing spermiogenesis and spermiation. To understand the molecular mechanism, we found that expression of Odf2, a vital protein in spermatogenesis, was significantly decreased. In addition, we found that expression levels of Odf2 were decreased in Mkrn2 knockout mice. We also found that MKRN2 was prominently expressed in the sperm of normal men, but was significantly reduced in infertile men. This result indicates that our finding is clinically relevant. The results of our study provided insights into a new mechanism of male infertility caused by the MKRN2 downregulation. FAU - Qian, Xu AU - Qian X AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Wang, Lin AU - Wang L AD - Institute of Medical and Pharmaceutical Sciences, Zhengzhou University, Henan 450052, China. FAU - Zheng, Bo AU - Zheng B AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Shi, Zhu-Mei AU - Shi ZM AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Neurosurgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Ge, Xin AU - Ge X AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Jiang, Cheng-Fei AU - Jiang CF AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Qian, Ying-Chen AU - Qian YC AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Li, Dong-Mei AU - Li DM AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Li, Wei AU - Li W AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Liu, Xue AU - Liu X AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Yin, Yu AU - Yin Y AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Zheng, Ji-Tai AU - Zheng JT AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Shen, Hua AU - Shen H AD - Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Wang, Min AU - Wang M AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. AD - Department of Pathology, and Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - Guo, Xue-Jiang AU - Guo XJ AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China. FAU - He, Jun AU - He J AD - Center for Molecular Carcinogenesis, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA. FAU - Lin, Marie AU - Lin M AD - Biomedical Engineer Research Center, Kunming Medical University, Kunming, Yunnan 65000, China. FAU - Liu, Ling-Zhi AU - Liu LZ AD - Center for Molecular Carcinogenesis, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA. FAU - Sha, Jia-Hao AU - Sha JH AD - State Key Laboratory of Reproductive Medicine,Nanjing Medical University, Nanjing, Jiangsu 210029, China.