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

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

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

摘要: Non-obstructive azoospermia, 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. 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 a...

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