ArticleNature communications2021
Long first exons and epigenetic marks distinguish conserved pachytene piRNA clusters from other mammalian genes.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 41 citations in OpenAlex.
- PIWI-Interacting RNAs in brain health and disease: biogenesis, mechanisms, and therapeutic horizons.Psychopharmacology · 2026Review
- The RNA helicase DDX53 (CAGE) contributes to RNA metabolism in a human germ cell model.bioRxiv : the preprint server for biology · 2026Article
- Transcription factor NFYA directs male meiotic entry by regulating accessible chromatin at meiotic promoters in mice.The EMBO journal · 2026Article
- Article
- Combinatorial tagging generates a multi-purpose knock-in mouse model revealing phase separation-dependent germ granules in RNA homeostasis and germline development.Cell death and differentiation · 2025Article
- Genetic polymorphisms lead to major, locus-specific, variation in piRNA production in mouse.The EMBO journal · 2025Article
- Article
- Short-term diet intervention comprising of olive oil, vitamin D, and omega-3 fatty acids alters the small non-coding RNA (sncRNA) landscape of human sperm.Scientific reports · 2025Article
- Evolutionary innovations in germline biology of placental mammals identified by transcriptomics of first-wave spermatogenesis in opossum.Developmental cell · 2025Article
- R-loops and small RNA regulatory interactions: mechanisms and clinical perspectives.Frontiers in cell and developmental biology · 2025Review
- piRNA Defense Against Endogenous Retroviruses.Viruses · 2024Review
- Mouse Pachytene piRNAs Cleave Hundreds of Transcripts, But Alter the Steady-State Abundance of Only a Minority of Targets.bioRxiv : the preprint server for biology · 2024Article
- RNA helicase D1PAS1 resolves R-loops and forms a complex for mouse pachytene piRNA biogenesis required for male fertility.Nucleic acids research · 2024Article
- A comparative roadmap of PIWI-interacting RNAs across seven species reveals insights into de novo piRNA-precursor formation in mammals.Cell reports · 2024Article
- Critical appraisal of the piRNA-PIWI axis in cancer and cancer stem cells.Biomarker research · 2024Review
- Saliva, a molecular reflection of the human body? Implications for diagnosis and treatment.Cell stress · 2024Article
- The MYBL1/TCFL5 transcription network: two collaborative factors with central role in male meiosis.Biochemical Society transactions · 2023Review
- Novel roles of PIWI proteins and PIWI-interacting RNAs in human health and diseases.Cell communication and signaling : CCS · 2023Review
- The non-redundant functions of PIWI family proteins in gametogenesis in golden hamsters.Nature communications · 2023Article
- CRISPR-induced exon skipping of β-catenin reveals tumorigenic mutants driving distinct subtypes of liver cancer.The Journal of pathology · 2023Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
Abstract
In the male germ cells of placental mammals, 26-30-nt-long PIWI-interacting RNAs (piRNAs) emerge when spermatocytes enter the pachytene phase of meiosis. In mice, pachytene piRNAs derive from ~100 discrete autosomal loci that produce canonical RNA polymerase II transcripts. These piRNA clusters bear 5' caps and 3' poly(A) tails, and often contain introns that are removed before nuclear export and processing into piRNAs. What marks pachytene piRNA clusters to produce piRNAs, and what confines their expression to the germline? We report that an unusually long first exon (≥ 10 kb) or a long, unspliced transcript correlates with germline-specific transcription and piRNA production. Our integrative analysis of transcriptome, piRNA, and epigenome datasets across multiple species reveals that a long first exon is an evolutionarily conserved feature of pachytene piRNA clusters. Furthermore, a highly methylated promoter, often containing a low or intermediate level of CG dinucleotides, correlates with germline expression and somatic silencing of pachytene piRNA clusters. Pachytene piRNA precursor transcripts bind THOC1 and THOC2, THO complex subunits known to promote transcriptional elongation and mRNA nuclear export. Together, these features may explain why the major sources of pachytene piRNA clusters specifically generate these unique small RNAs in the male germline of placental mammals.
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