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- Gou, Lan-Tao, et al. Show all 18 Authors
- Cell 2016
- cytoplasm; genes; genetic disorders; histones; human fertility; humans; male fertility; mice; models; mutation; patients; spermatids; spermatozoa; spermiogenesis; ubiquitin-protein ligase; ubiquitination
- ... 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) knock-in mice, we demonstrate that the genetic de ...