Ubiquitination-Deficient Mutations in Human Piwi Cause Male Infertility by Impairing Histone-to-Protamine Exchange during Spermiogenesis

@article{Gou2017UbiquitinationDeficientMI,
  title={Ubiquitination-Deficient Mutations in Human Piwi Cause Male Infertility by Impairing Histone-to-Protamine Exchange during Spermiogenesis},
  author={Lan-tao Gou and Jun-Yan Kang and Peng Dai and Xin Wang and Feng Li and Shuang Zhao and Man Zhang and Min-Min Hua and Yi Lu and Yong Zhu and Zheng Li and Hong Chen and Li-gang Wu and Dangsheng Li and Xiang-Dong Fu and Jinsong Li and Hui-juan Shi and Mo-fang Liu},
  journal={Cell},
  year={2017},
  volume={169},
  pages={1090-1104.e13}
}
Genetic studies have elucidated critical roles of Piwi proteins in germline development in animals, but whether Piwi is an actual disease gene in human infertility remains unknown. We report germline mutations in human Piwi (Hiwi) in patients with azoospermia that prevent its ubiquitination and degradation. By modeling such mutations in Piwi (Miwi) knockin mice, we demonstrate that the genetic defects are directly responsible for male infertility. Mechanistically, we show that MIWI binds the… CONTINUE READING
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