CFAP61基因敲除雄鼠出现精子鞭毛多发性形态异常引起的不育

作     者：黄涛 尹莹莹 刘超 李孟静 于小宸 王秀革 张浩波 Tahir Muhammad 高飞 李卫 陈子江 刘洪彬 马金龙 Tao Huang;Yingying Yin;Chao Liu;Mengjing Li;Xiaochen Yu;Xiuge Wang;Haobo Zhang;Tahir Muhammad;Fei Gao;Wei Li;Zi-Jiang Chen;Hongbin Liu;Jinlong Ma

作者机构：Center for Reproductive MedicineCheeloo College of MedicineShandong UniversityJinan 250012China National Research Center for Assisted Reproductive Technology and Reproductive GeneticsShandong UniversityJinan 250012China Key Laboratory of Reproductive Endocrinology of Ministry of EducationShandong UniversityJinan 250012China Shandong Provincial Clinical Medicine Research Center for Reproductive HealthShandong UniversityJinan 250012China State Key Laboratory of Stem Cell and Reproductive BiologyInstitute of ZoologyChinese Academy of SciencesBeijing 100101China Center for Reproductive MedicineRen Ji HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200000China Shanghai Key Laboratory for Assisted Reproduction and Reproductive GeneticsShanghai 200000China 

出 版 物：《Science Bulletin》 (科学通报（英文版）)

年 卷 期：2020年第65卷第10期

页      面：854-864,M0004页

核心收录：

学科分类：1002[医学-临床医学] 10[医学] 

基　　金：We thank Zhang Jie for her assistance in confocal analysis(Advanced Medical Research Institute,Shandong University).This work was supported by the National Key Research and Development Programs of China(2018YFC1003400) the Young Scholars Program of Shandong University(2016WLJH50) the Natural Science Foundation of Shandong Province(ZR2017MH049). 

主　　题：育龄夫妇 形态异常 男性不育 遗传异质性 精子数量 畸形精子症 精子活力 基因敲除 

摘      要：不育症困扰世界范围内约10%~15%的育龄夫妇.男性不育常由少精、弱精、畸形精子症等引起,表现为精子数量减少、精子运动能力降低、精子鞭毛多发性形态异常(MMAF)以及这些多重缺陷的组合.研究发现AKAP、CCDC、CFAP和DNAH等基因家族与精子鞭毛多发性形态异常相关.然而已知的MMAF基因只能解释大约60%的MMAF病例,因此MMAF存在遗传异质性,仍有未知的MMAF致病相关基因需要挖掘.本文通过构建睾丸中特异表达的CFAP61基因的敲除小鼠,发现雄鼠不育、精子活力下降和MMAF,提示CFAP61基因可能参与人类男性少弱畸精子症或其他纤毛疾病导致男性不育.