Bi-allelic variants in DNAH3 cause male infertility with asthenoteratozoospermia in humans and mice

DNAH3 双等位基因变异导致人类和小鼠出现弱精子症和男性不育症

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作者:Gui-Quan Meng, Yaling Wang, Chen Luo, Yu-Mei Tan, Yong Li, Chen Tan, Chaofeng Tu, Qian-Jun Zhang, Liang Hu, Huan Zhang, Lan-Lan Meng, Chun-Yu Liu, Leiyu Deng, Guang-Xiu Lu, Ge Lin, Juan Du, Yue-Qiu Tan, Yanwei Sha, Lingbo Wang, Wen-Bin He

Methods

WES was performed on 432 infertile patients with AT. In addition, two lines of Dnah3 knockout mice were generated. Haematoxylin and eosin (H&E) staining, transmission electron microscopy (TEM), immunostaining, and computer-aided sperm analysis (CASA) were performed to investigate the morphology and motility of the spermatozoa. ICSI was used to overcome the infertility of one patient and of the Dnah3 knockout mice. Main

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