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Article

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

Cell - 1 Jun 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28552346
DOI: 10.1016/j.cell.2017.04.034
PMCID: PMC5985145

Genes

RNF8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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