2021
DOI: 10.1038/s41598-020-80049-y
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Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans

Abstract: The ribosomal RNA genes (rDNA) are tandemly arrayed in most eukaryotes and exhibit vast copy number variation. There is growing interest in integrating this variation into genotype–phenotype associations. Here, we explored a possible association of rDNA copy number variation with autism spectrum disorder and found no difference between probands and unaffected siblings. Because short-read sequencing estimates of rDNA copy number are error prone, we sought to validate our 45S estimates. Previous studies reported… Show more

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Cited by 26 publications
(27 citation statements)
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“…Given the known positive correlation between increasing total rDNA copy number (CN) and epigenetic silencing in lower organisms [ 30 ], we considered the possibility that CN might account for strain-specific differences in total rDNA methylation levels. Therefore, we calculated CN from three independent datasets—WGS, WGBS, and ddPCR—for each individual mouse, as CN measurements in mammals are known to be technically challenging [ 31 ] (see Additional file 1 for CN calculations; Additional file 3 : Fig. S15).…”
Section: Resultsmentioning
confidence: 99%
“…Given the known positive correlation between increasing total rDNA copy number (CN) and epigenetic silencing in lower organisms [ 30 ], we considered the possibility that CN might account for strain-specific differences in total rDNA methylation levels. Therefore, we calculated CN from three independent datasets—WGS, WGBS, and ddPCR—for each individual mouse, as CN measurements in mammals are known to be technically challenging [ 31 ] (see Additional file 1 for CN calculations; Additional file 3 : Fig. S15).…”
Section: Resultsmentioning
confidence: 99%
“…Additionally, both parameters were not correlated at the group level, for instance in arthropods (Rs = 0.03) and fish (Rs < 0.01). Strikingly, a similarly weak correlation (Spearman’s Rs = 0.24) was observed between 18S and 5S copy numbers in human populations [ 40 ], indicating independent evolution of these loci, in general. This, however, does not exclude common shifts at the population level [ 41 ].…”
Section: Resultsmentioning
confidence: 99%
“…Given the known positive correlation between increasing total rDNA copy number (CN) and epigenetic silencing in lower organisms 30 , we considered the possibility of that CN might account for strainspecific differences in total rDNA methylation levels. Therefore, we calculated CN from three independent datasets - WGS, WGBS and ddPCR - for each individual mouse, as CN measurements in mammals are known to be technically challenging 31 (see Additional file 1 for CN calculations; Additional file 3: fig. S15 ).…”
Section: Resultsmentioning
confidence: 99%