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 

机构地区：[1]State Key Laboratory of Reproductive Medicine and Offspring Health,Center for Reproductive Medicine,Institute of Women,Children and Reproductive Health,Shandong University,Jinan,Shandong 250012,China [2]National Research Center for Assisted Reproductive Technology and Reproductive Genetics,Shandong University,Jinan,Shandong 250012,China [3]Key Laboratory of Reproductive Endocrinology(Shandong University),Ministry of Education,Jinan,Shandong 250012,China [4]Shandong Technology Innovation Center for Reproductive Health,Jinan,Shandong 250012,China [5]Shandong Provincial Clinical Research Center for Reproductive Health,Jinan,Shandong 250012,China [6]Shandong Key Laboratory of Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan,Shandong 250012,China [7]Research Unit of Gametogenesis and Health of ART-Offspring,Chinese Academy of Medical Sciences(No.2021RU001),Jinan,Shandong 250012,China [8]Department of Reproductive Medicine,Ren Ji Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200000,China [9]Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics,Shanghai 200000,China [10]CUHK-SDU Joint Laboratory on Reproductive Genetics,School of Biomedical Sciences,the Chinese University of Hong Kong,Hong Kong,China [11]Advanced Medical Research Institute,Cheeloo College of Medicine,Shandong University,Jinan,Shandong 250012,China

出　　处：《Journal of Genetics and Genomics》2024年第11期1322-1326,共5页遗传学报（英文版）

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)。

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,and>400 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.

关 键 词：VARIANTS TDR 

分 类 号：R698.2[医药卫生—泌尿科学]