Article
Functional Investigation of a Novel PIWIL4 Mutation in Nonobstructive Azoospermia During the First Wave of Spermatogenesis.
Biomolecules - 17 Feb 2025
Wang Xiayu, Du Qian, Li Wanqian, Zou Zhongyu, Wang Chikun, Zhou Yan, Hu Zhibin, Gu Yayun, Li Feng
Abstract excerpt
PIWI-interacting RNAs (piRNAs) are small noncoding RNAs that are almost exclusively expressed in germ cells to silence harmful transposons to maintain genome stability. PIWIL4 is guided by its associated piRNAs to transposable elements, where it recruits the DNA methylation apparatus and instructs de novo DNA methylation. Herein, we identified a missense variant of PIWIL4 (c.805 C>T p.R269W) in two infertile...
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