Pathogenic TDRD12 variants cause defective piRNA pathway and male infertility in humans and mice

作     者：Ziyou Bao Yan Wang Renxue Wang Fan Dong Tongtong Li Wai-Yee Chan Zi-Jiang Chen Gang Lu Hongbin Liu Xiangfeng Chen Ziyou Bao;Yan Wang;Renxue Wang;Fan Dong;Tongtong Li;Wai-Yee Chan;Zi-Jiang Chen;Gang Lu;Hongbin Liu;Xiangfeng Chen

作者机构：State Key Laboratory of Reproductive Medicine and Offspring HealthCenter for Reproductive MedicineInstitute of WomenChildren and Reproductive HealthShandong UniversityJinanShandong 250012China National Research Center for Assisted Reproductive Technology and Reproductive GeneticsShandong UniversityJinanShandong 250012China Key Laboratory of Reproductive Endocrinology(Shandong University)Ministry of EducationJinanShandong 250012China Shandong Technology Innovation Center for Reproductive HealthJinanShandong 250012China Shandong Provincial Clinical Research Center for Reproductive HealthJinanShandong 250012China Shandong Key Laboratory of Reproductive MedicineShandong Provincial Hospital Affiliated to Shandong First Medical UniversityJinanShandong 250012China Research Unit of Gametogenesis and Health of ART-OffspringChinese Academy of Medical Sciences(No.2021RU001)JinanShandong 250012China Department of Reproductive MedicineRen Ji HospitalShanghai Jiao Tong University School of MedicineShanghai 200000China Shanghai Key Laboratory for Assisted Reproduction and Reproductive GeneticsShanghai 200000China CUHK-SDU Joint Laboratory on Reproductive GeneticsSchool of Biomedical Sciencesthe Chinese University of Hong KongHong KongChina Advanced Medical Research InstituteCheeloo College of MedicineShandong UniversityJinanShandong 250012China 

出 版 物：《Journal of Genetics and Genomics》 (遗传学报（英文版）)

年 卷 期：2024年第51卷第11期

页      面：1322-1326页

核心收录：

学科分类：1002[医学-临床医学] 100210[医学-外科学(含：普外、骨外、泌尿外、胸心外、神外、整形、烧伤、野战外)] 10[医学] 

基　　金：supported by the National Key R&D Program of China(2023YFC2705503) Major Innovation Projects in Shandong Province(2021ZDSYS16) the National Natural Science Foundation of China(82071699 and 82371619) CAMS Innovation Fund for Medical Sciences(2021-I2M-5-001) the Basic Science Center Program of NSFC(31988101) Science Foundation for Distinguished Young Scholars of Shandong(ZR2021JQ27) Taishan Scholars Program for Young Experts of Shandong Province(tsqn202103192) 

主　　题：variants TDR 

摘      要：Non-obstructive azoospermia(NOA),the lack of sperm in the ejaculate due to failure of spermatogenesis,can result from a variety of diverse factors,with genetic factors accounting for~30%of NOA cases,including chromosomal aberrations,Y-chromosome microdeletions,and monogenic variants(Tang et al.,2022).More than 2000genes are known to participate in spermatogenesis,and400 genes specifically linked to azoospermia have been identified through studies in mouse models(Krausz and Riera-Escamilla,2018).However,relatively few genes associated with azoospermia in mice have been verified in humans.