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Variability of Human rDNA

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech Republic
Author to whom correspondence should be addressed.
Cells 2021, 10(2), 196;
Received: 10 December 2020 / Revised: 18 January 2021 / Accepted: 19 January 2021 / Published: 20 January 2021
(This article belongs to the Section Cell Nuclei: Function, Transport and Receptors)
In human cells, ribosomal DNA (rDNA) is arranged in ten clusters of multiple tandem repeats. Each repeat is usually described as consisting of two parts: the 13 kb long ribosomal part, containing three genes coding for 18S, 5.8S and 28S RNAs of the ribosomal particles, and the 30 kb long intergenic spacer (IGS). However, this standard scheme is, amazingly, often altered as a result of the peculiar instability of the locus, so that the sequence of each repeat and the number of the repeats in each cluster are highly variable. In the present review, we discuss the causes and types of human rDNA instability, the methods of its detection, its distribution within the locus, the ways in which it is prevented or reversed, and its biological significance. The data of the literature suggest that the variability of the rDNA is not only a potential cause of pathology, but also an important, though still poorly understood, aspect of the normal cell physiology. View Full-Text
Keywords: human rDNA; sequence variability; mutations; copy number human rDNA; sequence variability; mutations; copy number
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MDPI and ACS Style

Smirnov, E.; Chmúrčiaková, N.; Liška, F.; Bažantová, P.; Cmarko, D. Variability of Human rDNA. Cells 2021, 10, 196.

AMA Style

Smirnov E, Chmúrčiaková N, Liška F, Bažantová P, Cmarko D. Variability of Human rDNA. Cells. 2021; 10(2):196.

Chicago/Turabian Style

Smirnov, Evgeny; Chmúrčiaková, Nikola; Liška, František; Bažantová, Pavla; Cmarko, Dušan. 2021. "Variability of Human rDNA" Cells 10, no. 2: 196.

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