ArticleGenes & development2019
Human NORs, comprising rDNA arrays and functionally conserved distal elements, are located within dynamic chromosomal regions.
Article in Genes & development, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33 citing papers in PubMed, 53 citations in OpenAlex.
- A complete human pancreatic cancer genome.bioRxiv : the preprint server for biology · 2026Article
- Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes.bioRxiv : the preprint server for biology · 2026Article
- Evolution of rDNA-Linked Segmental Duplications as Lineage-Specific Mosaics in Great Apes.Genes · 2026Article
- Visualization and quantification of rDNA instabilities in mammalian cells and mouse models.Nucleic acids research · 2026Article
- Origin and evolution of acrocentric chromosomes in human and great apes.bioRxiv : the preprint server for biology · 2025Article
- Chromosome-specific epigenetic control and transmission of ribosomal DNA arrays in Hominidae genomes.Cell genomics · 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
- LINE-1, the NORth star of nucleolar organization.Genes & development · 2025Article
- LINE1 elements at distal junctions of rDNA repeats regulate nucleolar organization in human embryonic stem cells.Genes & development · 2025Article
- Article
- 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
- Crossing boundaries of light microscopy resolution discerns novel assemblies in the nucleolus.Histochemistry and cell biology · 2024Article
- A Retrospective Analysis of Robertsonian Translocations from a Single Center in China.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Article
- Regulation of ribosomal RNA gene copy number, transcription and nucleolus organization in eukaryotes.Nature reviews. Molecular cell biology · 2023Review
- Article
- Actively transcribed rDNA and distal junction (DJ) sequence are involved in association of NORs with nucleoli.Cellular and molecular life sciences : CMLS · 2023Article
- Regulatory roles of nucleolus organizer region-derived long non-coding RNAs.Mammalian genome : official journal of the International Mammalian Genome Society · 2022Review
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6 authors at 1 institution in 1 country.
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Abstract
Human nucleolar organizer regions (NORs), containing ribosomal gene (rDNA) arrays, are located on the p-arms of acrocentric chromosomes (HSA13-15, 21, and 22). Absence of these p-arms from genome references has hampered research on nucleolar formation. Previously, we assembled a distal junction (DJ) DNA sequence contig that abuts rDNA arrays on their telomeric side, revealing that it is shared among the acrocentrics and impacts nucleolar organization. To facilitate inclusion into genome references, we describe sequencing the DJ from all acrocentrics, including three versions of HSA21, ∼3 Mb of novel sequence. This was achieved by exploiting monochromosomal somatic cell hybrids containing single human acrocentric chromosomes with NORs that retain functional potential. Analyses revealed remarkable DJ sequence and functional conservation among human acrocentrics. Exploring chimpanzee acrocentrics, we show that "DJ-like" sequences and abutting rDNA arrays are inverted as a unit in comparison to humans. Thus, rDNA arrays and linked DJs represent a conserved functional locus. We provide direct evidence for exchanges between heterologous human acrocentric p-arms, and uncover extensive structural variation between chromosomes and among individuals. These findings lead us to revaluate the molecular definition of NORs, identify novel genomic structural variation, and provide a rationale for the distinctive chromosomal organization of NORs.
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