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

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 degr...

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Veröffentlicht in:	Cell 2017-06, Vol.169 (6), p.1090-1104.e13
Hauptverfasser:	Gou, Lan-Tao, Kang, Jun-Yan, Dai, Peng, Wang, Xin, Li, Feng, Zhao, Shuang, Zhang, Man, Hua, Min-Min, Lu, Yi, Zhu, Yong, Li, Zheng, Chen, Hong, Wu, Li-Gang, Li, Dangsheng, Fu, Xiang-Dong, Li, Jinsong, Shi, Hui-Juan, Liu, Mo-Fang
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Argonaute Proteins - genetics Argonaute Proteins - metabolism Azoospermia - genetics Azoospermia - metabolism Chromatin - metabolism cytoplasm Disease Models, Animal DNA Mutational Analysis DNA-Binding Proteins - metabolism Female Gene Knock-In Techniques genes genetic disorders histones Histones - metabolism human fertility Humans Introns Male male fertility Mice Mutation patients Pedigree Protamines - metabolism Proteolysis small interfering RNA spermatids Spermatogenesis spermatozoa spermiogenesis ubiquitin-protein ligase Ubiquitin-Protein Ligases Ubiquitination
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