Evidence map›Paper›PMID 40527521›Full record

ArticleAging2025

rDNA copy number variation and methylation from birth to sexual maturity.

Alina Michler, Sarah Kießling, Jana Durackova, Ramya Potabattula, Asuman Koparir, Thomas Haaf

Abstract read
In one paragraph

Article in Aging, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Alina MichlerInstitute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany.
Sarah KießlingInstitute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany.
Jana DurackovaInstitute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany.
Ramya PotabattulaInstitute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany.
Asuman KoparirInstitute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany.
Thomas HaafInstitute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ribosomal DNA transcription is essential for ribosome biogenesis and the production of proteins. Using a combination of droplet digital PCR and deep bisulfite sequencing, we have quantified both the absolute number as well as the methylation level of individual rDNA transcription units (TU) in blood samples of 139 young healthy individuals and 141 sex- and age-matched individuals with unsolved syndromal developmental delay (DD), ranging from 0.02 to 18.4 years in age. There were no between-group differences in average promoter methylation, absolute copy number (CN), extreme CN, and hypomethylated (0-10%) presumably active CN. This largely excludes rDNA CN as a modulating factor in DD. The absolute CN in all 280 samples was 423.7 ± 108.4 (median 410, range 153 to 1,000) and the active CN was 175.0 ± 36.4 (median 174, range 70 to 376). Similar to adults, the absolute CN did not change from birth to sexual maturity but was strongly (Pearson

Indexed as

DNA Copy Number VariationsDNA MethylationDNA, RibosomalSexual MaturationAdolescentAdultChildChild, PreschoolDevelopmental DisabilitiesFemaleHumansInfantInfant, NewbornMalePromoter Regions, GeneticYoung AdultDNA, Ribosomalabsolute rDNA copy numberactive rDNA copy numberdeep bisulfite sequencingdevelopmental delaydroplet digital PCR

Identifiers

PMID40527521
PMCPMC12245198

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.