ArticleNature communications2024
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.Reproductive biology and endocrinology : RB&E · 2025Pooled it
- Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis.PloS one · 2025Pooled it
- A Novel piRNA-Mediated Epigenetic Axis: piR-36241 Exacerbates Pulpitis by Silencing the Protective Receptor ADGRG2 in Human Dental Pulp Stem Cells.International endodontic journal · 2026Article
- Sperm AluY Epimutations in Male Partners of Couples with Unexplained Recurrent Pregnancy Loss.bioRxiv : the preprint server for biology · 2026Article
- Gametocyte-Specific Factor 1 Is Essential for Male Fertility and Transposon Homeostasis inInsects · 2026Article
- CRISPR/Cas9-mediated genome editing identifies six testis-expressed genes individually dispensable for overt male fecundity in mice.Journal of biomedical research · 2026Article
- Tissue-resident neutrophils serve homeostatic and immunological functions in embryos.Nature communications · 2026Article
- Seminal-Plasma Molecular Biomarkers as a Liquid Biopsy of Testicular Function: Toward AI-Ready Sperm-Retrieval Prediction in Non-Obstructive Azoospermia.International journal of molecular sciences · 2026Review
- Review
- A homozygous PIWIL1 frameshift variant triggers azoospermia and reveals a strong selective constraint on germline genome integrity.Journal of assisted reproduction and genetics · 2026Article
- piRNA: Molecular Mechanisms from Germline Silencing to Somatic Regulation and Roles in Disease.International journal of molecular sciences · 2026Review
- A mammalian-like piRNA pathway in Axolotl reveals the origins of piRNA-directed DNA methylation.The EMBO journal · 2026Article
- Changes in circulating small non-coding RNAs after castration in a cohort of prostate cancer patients.Scientific reports · 2026Article
- Redox-Genomic Crosstalk: Linking Oxidative Stress, Sperm DNA Fragmentation, and Epigenetics in Personalized Management of Male Infertility.Journal of personalized medicine · 2026Review
- Spermatogenesis Beyond DNA: Integrated RNA Control of the Epitranscriptome and Three-Dimensional Genome Architecture.Current issues in molecular biology · 2026Review
- Acute testicular hyperthermia leads to rapid loss of global piRNA and a concurrent increase in LINE1 activity within heat sensitive male germ cells.Mobile DNA · 2026Article
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- Advances in the Mechanism of ceRNA Regulation in Postoperative Cognitive Dysfunction.Current neuropharmacology · 2026Review
- Article
- Recent Progress in Characterizing Germline Mutations and Their Transmission Across Generations.Advances in experimental medicine and biology · 2026Review
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Abstract
piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and present 39 infertile men carrying biallelic variants in 14 different piRNA pathway genes, including PIWIL1, GTSF1, GPAT2, MAEL, TDRD1, and DDX4. In some affected men, the testicular phenotypes differ from those of the respective knockout mice and range from complete germ cell loss to the production of a few morphologically abnormal sperm. A reduced number of pachytene piRNAs was detected in the testicular tissue of variant carriers, demonstrating impaired piRNA biogenesis. Furthermore, LINE1 expression in spermatogonia links impaired piRNA biogenesis to transposon de-silencing and serves to classify variants as functionally relevant. These results establish the disrupted piRNA pathway as a major cause of human spermatogenic failure and provide insights into transposon silencing in human male germ cells.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.