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Variability of Human rDNA

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...

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Autores principales: Smirnov, Evgeny, Chmúrčiaková, Nikola, Liška, František, Bažantová, Pavla, Cmarko, Dušan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909238/
https://www.ncbi.nlm.nih.gov/pubmed/33498263
http://dx.doi.org/10.3390/cells10020196
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author Smirnov, Evgeny
Chmúrčiaková, Nikola
Liška, František
Bažantová, Pavla
Cmarko, Dušan
author_facet Smirnov, Evgeny
Chmúrčiaková, Nikola
Liška, František
Bažantová, Pavla
Cmarko, Dušan
author_sort Smirnov, Evgeny
collection PubMed
description 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.
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spelling pubmed-79092382021-02-27 Variability of Human rDNA Smirnov, Evgeny Chmúrčiaková, Nikola Liška, František Bažantová, Pavla Cmarko, Dušan Cells Review 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. MDPI 2021-01-20 /pmc/articles/PMC7909238/ /pubmed/33498263 http://dx.doi.org/10.3390/cells10020196 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Smirnov, Evgeny
Chmúrčiaková, Nikola
Liška, František
Bažantová, Pavla
Cmarko, Dušan
Variability of Human rDNA
title Variability of Human rDNA
title_full Variability of Human rDNA
title_fullStr Variability of Human rDNA
title_full_unstemmed Variability of Human rDNA
title_short Variability of Human rDNA
title_sort variability of human rdna
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909238/
https://www.ncbi.nlm.nih.gov/pubmed/33498263
http://dx.doi.org/10.3390/cells10020196
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