Human ribosomal RNA gene arrays display a broad range of palindromic structures
Open accessAbstract
The standard model of eukaryotic ribosomal RNA (rRNA) genes involves tandem arrays with hundreds of units in clusters, the nucleolus organizer regions (NORs). A first genomic overview for human cells is reported here for these regions, which have never been sequenced in their totality, by using molecular combing. The rRNA-coding regions are examined by fluorescence on single molecules of DNA with two specific probes that cover their entire length. The standard organization assumed for rDNA units is a transcribed region followed by a nontranscribed spacer. While we confirmed this arrangement in many cases, unorthodox patterns were also observed in normal individuals, with one-third of the rDNA units rearranged to form apparently palindromic structures (noncanonical units) independent of the age of the donors. In cells from individuals with a deficiency in the WRN RecQ helicase (Werner syndrome), the proportion of palindromes increased to one-half. These findings, supported by Southern blot analyses, show that rRNA genes are a mosaic of canonical and (presumably nonfunctional) palindromic units that may be altered by factors associated with genomic instability and pathology.
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Approximately 20-30% of rDNA repeats in human cell lines are palindromic and noncanonical.
“For instance, approximately 20–30% of rDNA repeats in human cell lines are palindromic and noncanonical (20,25).”
From Impaired function of rDNA transcription initiation machinery leads to derepression of ribosomal genes with insertions of R2 retrotransposon (2022) · cites this paper as [25]
The paper identifies palindromic rDNA units as noncanonical, but reports about one-third of units in control human cells, rather than 20–30% (opening summary; Southern blotting analysis, Fig. 3). It reports a higher proportion—about one-half—in Werner syndrome cell lines, so the stated range does not describe all the human cell lines studied. (LLM, conf=0.86)
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Research works printed but not linked: 3
- Caburet, S. 2002. Structure mosaïque et instabilite ´de l'ADN ribosomal humain: Implications dans la se ´nescence et la cance ´roge `nese. Ph.D. thesis, Universite ´de Paris VII, Paris, France.
- Henderson, A.S., Warburton, D., and Atwood, K.C. 1972. Location of ribosomal DNA in the human chromosome complement. Proc. Natl. Acad. Sci. 69: 3394-3398.
- Marciniak, R.A., Lombard, D.B., Johnson, F.B., and Guarente, L. 1998. Nucleolar localization of the Werner syndrome protein in human cells. Proc. Natl. Acad. Sci. 95: 6887-6892.
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“For instance, approximately 20–30% of rDNA repeats in human cell lines are palindromic and noncanonical (20,25).”
BackgroundEpigenetics of Ribosomal RNA Genes
Denisenko, O. (2022) · Biochemistry (Moscow) · doi:10.1134/s0006297922140097 · Cited by 10 · see citing works
- Authors
- Caburet, S., Conti, C., Schurra, C., Lebofsky, R., Edelstein, S. J., & Bensimon, A.
- Affiliations
- Institut Pasteur (FR)
- Inserm (FR)
- University of Geneva (CH)
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2005-07-15
- Volume
- 15
- Issue
- 8
- Pages
- 1079-1085
- ISSN
- 1088-9051 (ISSN-L)
- PMC
- PMC1182220
- OpenAlex
- W2062981254
- Cited by
- 143
- References
- 0
- Citations by year
- 2025: 3 · 2024: 4 · 2023: 3 · 2022: 8 · 2021: 12 · 2020: 5 · 2019: 6 · 2018: 7 · 2017: 10 · 2016: 12 · 2015: 6 · 2014: 9 · 2013: 6 · 2012: 9
- Type
- posted content
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genome Research (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- Topics
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- ribosomal DNA, nucleolar organizer regions, non-transcribed spacer, WRN helicase, Werner syndrome, genomic instability, human genome
- MeSH terms
- Cells, Cultured, Humans, Nucleic Acid Conformation, RNA, Ribosomal, Werner Syndrome, Blotting, Southern, Gene Rearrangement, DNA Probes, In Situ Hybridization, Fluorescence, Genes, rRNA, Gene Order
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