Ribosomal DNA instability and genome adaptability

  • Devika Salim
  • Jennifer L. Gerton


Ribosomes are large, multi-subunit ribonucleoprotein complexes, essential for protein synthesis. To meet the high cellular demand for ribosomes, all eukaryotes have numerous copies of ribosomal DNA (rDNA) genes that encode ribosomal RNA (rRNA), usually far in excess of the requirement for ribosome biogenesis. In all eukaryotes studied, rDNA genes are arranged in one or more clusters of tandem repeats localized to nucleoli. The tandem arrangement of repeats, combined with the high rates of transcription at the rDNA loci, and the difficulty of replicating repetitive sequences make the rDNA inherently unstable and particularly susceptible to large variations in repeat copy number. Despite mounting evidence suggesting extra-ribosomal functions of the rDNA, its repetitive nature has excluded it from traditional sequencing-based studies. However, more recently, several studies have revealed the unique potential of the rDNA to act as a “canary in the coalmine,” being particularly sensitive to genomic stresses and acting as a source of adaptive response. Here, we review evidence uncovering mechanisms of regulation of instability and copy number variation at the rDNA and their role in adaptation to the environment, which could serve to understand the basic principles governing the behavior of other tandem repeats and their role in shaping the genome.


rDNA Transcription Replication Replication-transcription conflicts Instability Copy number variation Adaptive mutations 



We thank Mark Miller (Stowers Institute) for his help with illustrations. This work was done to fulfill, in part, the requirements for DS’s PhD thesis research as a student registered with the Open University.

Author contributions

DS and JLG wrote, reviewed, and edited the manuscript.


This work was funded by the Stowers Institute for Medical Research.


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© Springer Nature B.V. 2019

Authors and Affiliations

  1. 1.Stowers Institute for Medical ResearchKansas CityUSA
  2. 2.Open UniversityMilton KeynesUK
  3. 3.Department of Biochemistry and Molecular BiologyUniversity of Kansas Medical CenterKansas CityUSA

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