Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
October 20, 2022AndrologyOpen Access

How genetic defects in piRNA trimming contribute to male infertility

View Full Paper
Ask AI
Bookmark
Share

Authors

JMJeffrey M. MannCWChao WeiCCC. Chen

Discussion

Loading...

Member takes

Overview

Review reveals how mutations in piRNA trimming exonucleases impair transposon silencing in mammals, highlighting diagnostic avenues for male infertility.

Key Points

  • Summarize the molecular mechanisms of piRNA trimming during germ cell development and evaluate how genetic defects in trimming enzymes cause male infertility in mammalian models and humans.
  • Reviewed biochemical and genetic studies evaluating the 3'-5' exonuclease PNLDC1/PARN-1 and pre-piRNA processing mechanisms.
  • Analyzed molecular and phenotypic outcomes of piRNA trimmer mutations across mammalian animal models and infertile human cohorts.
  • Identified the 3'-5' exonucleases PNLDC1 and PARN-1 as essential enzymes for shortening pre-piRNAs to their mature length of 21–35 nucleotides.
  • Demonstrated that trimmer gene mutations lead to the accumulation of untrimmed pre-piRNAs, decreased piRNA stability, and elevated harmful transposon expression.
  • Linked defective piRNA trimming directly to disrupted spermatogenesis and male infertility across animal models and clinical human cases.

Cite This Study

Mann et al. (2022) studied this question.

synapsesocial.com/papers/6aa049697dda276ec33dd2dahttps://doi.org/10.1111/andr.13324
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Cracking the code: how piRNA pathway shapes spermatogenesis and combats male infertility2025 · 4 citations
  2. 2PNLDC1 catalysis and postnatal germline function are required for piRNA trimming, LINE1 silencing, and spermatogenesis in mice2024 · 10 citations
  3. 3Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility2024 · 64 citations
  4. 4[Research progress of piRNA as a biomarker for male infertility].2024 · 1 citations
  5. 5In preprints: illuminating germline dark matter – pachytene piRNA biogenesis and function2026