期刊
CELLS
卷 10, 期 2, 页码 -出版社
MDPI
DOI: 10.3390/cells10020196
关键词
human rDNA; sequence variability; mutations; copy number
类别
资金
- Charles University [Progres Q28]
- Grant Agency of Czech Republic [19-21715S]
The review discusses the causes and types of human rDNA instability, the methods of detection, its distribution within the locus, and its biological significance. Literature data suggests that the variability of rDNA is not only a potential cause of pathology, but also an important but poorly understood aspect of normal cell physiology.
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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