Ontology highlight
ABSTRACT:
SUBMITTER: Gou LT
PROVIDER: S-EPMC5985145 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Cell 20170525 6
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 his ...[more]