ArticlePLoS genetics2023
rRNA transcription is integral to phase separation and maintenance of nucleolar structure.
Article in PLoS genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- A novel homozygous variant in the POLR1A gene: a complicated hereditary spastic paraplegia (c-HSP) or a hypomyelinating leukodystrophy type-27 (HLD27) phenotype?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- Transcription termination factor 2 (TTF2) prevents premature rRNA synthesis during mitotic exit.Life science alliance · 2026Article
- Culture medium modulates nucleolar architecture and disrupts ribosomal RNA levels in preimplantation mouse embryos.The Journal of reproduction and development · 2026Article
- Nuclear envelope-dependent heterochromatin positioning gates the timing of nucleolar assembly in the early embryo.bioRxiv : the preprint server for biology · 2026Article
- Active RNA synthesis patterns nuclear condensates.Cell systems · 2026Article
- rRNA intermediates associate with nucleolar reshaping in C. elegans.Nucleic acids research · 2026Article
- Metabolism of Epigenetic Ribonucleosides Leads to Nucleolar Stress and Cytotoxicity.ACS chemical biology · 2026Article
- Ribosome Biogenesis and Translational Control in Skeletal Muscle Atrophy and Hypertrophy: Mechanisms and Therapeutic Perspectives.Biomolecules · 2026Review
- RNA Pol I shapes meiotic chromatin, germline H3K4me3 dynamics, and oogenesis independent of ribosome assembly.Cell reports · 2026Article
- How Early-Life Programming During Embryogenesis Imprints Cellular Memory.International journal of molecular sciences · 2025Review
- NSH76: a selective inhibitor of RRN3 and RNA polymerase I transcription with potential for cancer therapy.Journal of translational medicine · 2025Article
- RNA Pol I activity is required for meiotic chromatin organization and the H3K4me3 gradient essential for oogenesis, independent of ribosome synthesis.bioRxiv : the preprint server for biology · 2025Article
- Emerging roles for the nucleolus in development and stem cells.Development (Cambridge, England) · 2025Review
- Membrane-associated σ factors disrupt rRNA operon clustering in Escherichia coli.PLoS biology · 2025Article
- NBS1 facilitates preribosomal RNA biogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A nuclear protein quality control system for elimination of nucleolus-related inclusions.The EMBO journal · 2025Article
- Maternal antioxidant treatment partially rescues developmental defects in amicroPublication biology · 2025Article
- Spatial Control over Reactions via Localized Transcription within Membraneless DNA Nanostar Droplets.Journal of the American Chemical Society · 2024Article
- RNA-driven phase transitions in biomolecular condensates.Molecular cell · 2024Review
- An RNA-centric view of transcription and genome organization.Molecular cell · 2024Review
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
Transcription of ribosomal RNA (rRNA) by RNA Polymerase (Pol) I in the nucleolus is necessary for ribosome biogenesis, which is intimately tied to cell growth and proliferation. Perturbation of ribosome biogenesis results in tissue specific disorders termed ribosomopathies in association with alterations in nucleolar structure. However, how rRNA transcription and ribosome biogenesis regulate nucleolar structure during normal development and in the pathogenesis of disease remains poorly understood. Here we show that homozygous null mutations in Pol I subunits required for rRNA transcription and ribosome biogenesis lead to preimplantation lethality. Moreover, we discovered that Polr1a-/-, Polr1b-/-, Polr1c-/- and Polr1d-/- mutants exhibit defects in the structure of their nucleoli, as evidenced by a decrease in number of nucleolar precursor bodies and a concomitant increase in nucleolar volume, which results in a single condensed nucleolus. Pharmacological inhibition of Pol I in preimplantation and midgestation embryos, as well as in hiPSCs, similarly results in a single condensed nucleolus or fragmented nucleoli. We find that when Pol I function and rRNA transcription is inhibited, the viscosity of the granular compartment of the nucleolus increases, which disrupts its phase separation properties, leading to a single condensed nucleolus. However, if a cell progresses through mitosis, the absence of rRNA transcription prevents reassembly of the nucleolus and manifests as fragmented nucleoli. Taken together, our data suggests that Pol I function and rRNA transcription are required for maintaining nucleolar structure and integrity during development and in the pathogenesis of disease.
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