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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MDPI AG
2021-01-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/10/2/196 |
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| author | Evgeny Smirnov Nikola Chmúrčiaková František Liška Pavla Bažantová Dušan Cmarko |
| author_facet | Evgeny Smirnov Nikola Chmúrčiaková František Liška Pavla Bažantová Dušan Cmarko |
| author_sort | Evgeny Smirnov |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-09T04:14:31Z |
| format | Article |
| id | doaj.art-e6b7d77a523e4e56a156613ad8b488f6 |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-09T04:14:31Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-e6b7d77a523e4e56a156613ad8b488f62023-12-03T13:56:08ZengMDPI AGCells2073-44092021-01-0110219610.3390/cells10020196Variability of Human rDNAEvgeny Smirnov0Nikola Chmúrčiaková1František Liška2Pavla Bažantová3Dušan Cmarko4Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech RepublicInstitute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech RepublicInstitute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech RepublicInstitute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech RepublicInstitute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 00 Prague, Czech RepublicIn 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.https://www.mdpi.com/2073-4409/10/2/196human rDNAsequence variabilitymutationscopy number |
| spellingShingle | Evgeny Smirnov Nikola Chmúrčiaková František Liška Pavla Bažantová Dušan Cmarko Variability of Human rDNA Cells human rDNA sequence variability mutations copy number |
| 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 | human rDNA sequence variability mutations copy number |
| url | https://www.mdpi.com/2073-4409/10/2/196 |
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