Evidence map›Paper›PMID 39834111›Full record

ReviewBioEssays : news and reviews in molecular, cellular and developmental biology2025

Assessing Human Ribosomal DNA Variation and Its Association With Phenotypic Outcomes.

Francisco Rodriguez-Algarra, Elliott Whittaker, Sandra Del Castillo Del Rio, Vardhman K Rakyan

Abstract readReview
In one paragraph

Review in BioEssays : news and reviews in molecular, cellular and developmental biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Evidence for strong purifying selection of humanProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  3. Article
  4. Article
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

4 authors.

Francisco Rodriguez-AlgarraThe Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID https://orcid.org/0000-0002-4134-2141
Elliott WhittakerThe Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID https://orcid.org/0009-0009-4692-8019
Sandra Del Castillo Del RioThe Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID https://orcid.org/0000-0002-1088-2751
Vardhman K RakyanThe Blizard Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.ORCID https://orcid.org/0000-0003-4523-5121

Funding

Barts Charity G-002588Barts Charity G-002663Barts Charity MGU0390Biotechnology and Biological Sciences Research Council BB/R00675X/1Medical Research Council MR/W007045/1Rosetrees Trust 100182
6 · The paper itself

Abstract

Although genome-scale analyses have provided insights into the connection between genetic variability and complex human phenotypes, much trait variation is still not fully understood. Genetic variation within repetitive elements, such as the multi-copy, multi-locus ribosomal DNA (rDNA), has emerged as a potential contributor to trait variation. Whereas rDNA was long believed to be largely uniform within a species, recent studies have revealed substantial variability in the locus, both within and across individuals. This variation, which takes the form of copy number, structural arrangement, and sequence differences, has been found to be associated with human phenotypes. This review summarizes what is currently known about human rDNA variation, its causes, and its association with phenotypic outcomes, highlighting the technical challenges the field faces and the solutions proposed to address them. Finally, we suggest experimental approaches that can help clarify the elusive mechanisms underlying the phenotypic consequences of rDNA variation.

Indexed as

DNA, RibosomalGenetic VariationDNA Copy Number VariationsHumansPhenotypeDNA, Ribosomal

Identifiers

PMID39834111
PMCPMC11931683

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.