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Ribosomal DNA instability and genome adaptability

Salim, Devika and Gerton, Jennifer L. (2019). Ribosomal DNA instability and genome adaptability. Chromosome Research, 27(1-2) pp. 73–87.

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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.

Item Type: Journal Item
Copyright Holders: 2019 Springer Nature B.V.
ISSN: 1573-6849
Keywords: rDNA; transcription; replication; replication-transcription conflicts; instability; copy number variation; adaptive mutations
Academic Unit/School: Faculty of Science, Technology, Engineering and Mathematics (STEM)
Item ID: 58714
SWORD Depositor: Jisc Publications-Router
Depositing User: Jisc Publications-Router
Date Deposited: 21 Jan 2019 10:54
Last Modified: 29 Mar 2019 11:01
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