ArticleProceedings of the National Academy of Sciences of the United States of America2015
Concerted copy number variation balances ribosomal DNA dosage in human and mouse genomes.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 1 of them a synthesis that pooled it.
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Who cites it
109 citing papers in PubMed, 1 synthesis or guideline pooled it, 198 citations in OpenAlex.
- Computational meta-analysis of ribosomal RNA fragments: potential targets and interaction mechanisms.Nucleic acids research · 2021Pooled it
- Skeletal muscle reprogramming of metabolic, ribosomal and developmental pathways contributes to Roux-en-Y gastric bypass-induced adaptation in women.EBioMedicine · 2026Article
- Evidence for strong purifying selection of humanProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Visualization and quantification of rDNA instabilities in mammalian cells and mouse models.Nucleic acids research · 2026Article
- Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.Frontiers in pediatrics · 2026Article
- Comparative Genomic Analysis of Co-Occurring Hybrid Zones of House Mouse Parasites Pneumocystis murina and Syphacia obvelata Using Genome Polarisation.Molecular ecology · 2025Article
- Associations of Serum Per- and Polyfluoroalkyl Substances with Genotoxic Biomarkers: New Insights from Cross-Sectional and In Vivo Evidence.Environmental science & technology · 2025Article
- Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- Simultaneous quantification of rDNA methylation and copy number: Constraints to natural variation in humans and cell lines.PloS one · 2025Article
- Diversity of ribosomes at the level of rRNA variation associated with human health and disease.Cell genomics · 2024Article
- Relative rDNA copy number is not associated with resistance training-induced skeletal muscle hypertrophy and does not affect myotube anabolism in vitro.American journal of physiology. Regulatory, integrative and comparative physiology · 2024Article
- Copy number and sequence variation in rDNA of Daphnia pulex from natural populations: insights from whole-genome sequencing.G3 (Bethesda, Md.) · 2024Article
- The black honey bee genome: insights on specific structural elements and a first step towards pangenomes.Genetics, selection, evolution : GSE · 2024Article
- Ribosomal DNA copy number is associated with body mass in humans and other mammals.Nature communications · 2024Article
- Ribosomal DNA copy number variation associates with hematological profiles and renal function in the UK Biobank.Cell genomics · 2024Article
- Functions of RNAi Pathways in Ribosomal RNA Regulation.Non-coding RNA · 2024Review
- Replication fork blocking deficiency leads to a reduction of rDNA copy number in budding yeast.iScience · 2024Article
- The Dynamic Interplay Between Ribosomal DNA and Transposable Elements: A Perspective From Genomics and Cytogenetics.Molecular biology and evolution · 2024Article
- Genomic hallmarks and therapeutic targets of ribosome biogenesis in cancer.Briefings in bioinformatics · 2024Article
- Ribosomal DNA Copy Number Variation is Coupled with DNA Methylation Changes at the 45S rDNA Locus.Epigenetics · 2023Article
49 more citing papers are in PubMed but not listed here.
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5 authors at 2 institutions in 2 countries.
Funding
Abstract
Tandemly repeated ribosomal DNA (rDNA) arrays are among the most evolutionary dynamic loci of eukaryotic genomes. The loci code for essential cellular components, yet exhibit extensive copy number (CN) variation within and between species. CN might be partly determined by the requirement of dosage balance between the 5S and 45S rDNA arrays. The arrays are nonhomologous, physically unlinked in mammals, and encode functionally interdependent RNA components of the ribosome. Here we show that the 5S and 45S rDNA arrays exhibit concerted CN variation (cCNV). Despite 5S and 45S rDNA elements residing on different chromosomes and lacking sequence similarity, cCNV between these loci is strong, evolutionarily conserved in humans and mice, and manifested across individual genotypes in natural populations and pedigrees. Finally, we observe that bisphenol A induces rapid and parallel modulation of 5S and 45S rDNA CN. Our observations reveal a novel mode of genome variation, indicate that natural selection contributed to the evolution and conservation of cCNV, and support the hypothesis that 5S CN is partly determined by the requirement of dosage balance with the 45S rDNA array. We suggest that human disease variation might be traced to disrupted rDNA dosage balance in the genome.
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