ArticlePloS one2018
The conservation landscape of the human ribosomal RNA gene repeats.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 83 citations in OpenAlex.
- Genomic indicators of gene function: a systematic assessment of the human genome.G3 (Bethesda, Md.) · 2026Article
- Pathogenic germline variants in BRCA1/2 are associated with a decreased number of hypomethylated rDNA copies.Breast cancer research : BCR · 2026Article
- Evidence for strong purifying selection of humanProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Mapping human pre-rRNA processing and modification at single nucleotide resolution using long read nanopore sequencing.Nature communications · 2026Article
- Impact of Tau overexpression on DNA replication dynamics in centromeres of human neural progenitor cells.iScience · 2026Article
- Chromosome-specific epigenetic control and transmission of ribosomal DNA arrays in Hominidae genomes.Cell genomics · 2025Article
- Benchmarking pre-trained genomic language models for RNA sequence-related predictive applications.Nature communications · 2025Article
- Telomere-to-telomere sequence of mouse haploid stem cells.Science China. Life sciences · 2025Article
- Analysis of a Novel Human Protein, ORF3, Encoded by Spacer rDNA.Journal of molecular evolution · 2025Article
- Complete sequencing of ape genomes.Nature · 2025Article
- Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- Impacts of ribosomal RNA sequence variation on gene expression and phenotype.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Combining DNA and protein alignments to improve genome annotation with LiftOn.Genome research · 2025Article
- Complete sequencing of ape genomes.bioRxiv : the preprint server for biology · 2024Article
- Epigenetic control and inheritance of rDNA arrays.bioRxiv : the preprint server for biology · 2024Article
- Article
- Comparative analysis and classification of highly divergent mouse rDNA units based on their intergenic spacer (IGS) variability.NAR genomics and bioinformatics · 2024Article
- Combining DNA and protein alignments to improve genome annotation with LiftOn.bioRxiv : the preprint server for biology · 2024Article
- Description of the complete rDNA repeat unit structure ofComparative cytogenetics · 2024Article
- Modeling the consequences of age-linked rDNA hypermethylation with dCas9-directed DNA methylation in human cells.PloS one · 2024Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ribosomal RNA gene repeats (rDNA) encode ribosomal RNA, a major component of ribosomes. Ribosome biogenesis is central to cellular metabolic regulation, and several diseases are associated with rDNA dysfunction, notably cancer, However, its highly repetitive nature has severely limited characterization of the elements responsible for rDNA function. Here we make use of phylogenetic footprinting to provide a comprehensive list of novel, potentially functional elements in the human rDNA. Complete rDNA sequences for six non-human primate species were constructed using de novo whole genome assemblies. These new sequences were used to determine the conservation profile of the human rDNA, revealing 49 conserved regions in the rDNA intergenic spacer (IGS). To provide insights into the potential roles of these conserved regions, the conservation profile was integrated with functional genomics datasets. We find two major zones that contain conserved elements characterised by enrichment of transcription-associated chromatin factors, and transcription. Conservation of some IGS transcripts in the apes underpins the potential functional significance of these transcripts and the elements controlling their expression. Our results characterize the conservation landscape of the human IGS and suggest that noncoding transcription and chromatin elements are conserved and important features of this unique genomic region.
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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.