Evidence map›Paper›PMID 39111318›Full record

ArticleCell genomics2024

Diversity of ribosomes at the level of rRNA variation associated with human health and disease.

Daphna Rothschild, Teodorus Theo Susanto, Xin Sui, Jeffrey P Spence, Ramya Rangan, Naomi R Genuth, Nasa Sinnott-Armstrong, Xiao Wang, Jonathan K Pritchard, Maria Barna

Abstract read
In one paragraph

Article in Cell genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.

0numbers the graph read from it
0cells of the map it votes in
35citing 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

35 citing papers in PubMed.

  1. Article
  2. Dynamic evolution and hierarchical regulation of rDNA in polyploid oat.The Plant journal : for cell and molecular biology · 2026
    Article
  3. Article
  4. Article
  5. RiboScreenBiomedicines · 2026
    Review
  6. Article
  7. Article
  8. A complete human pancreatic cancer genome.bioRxiv : the preprint server for biology · 2026
    Article
  9. Evidence for strong purifying selection of humanProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. RNA Structure and Its Function.Methods in molecular biology (Clifton, N.J.) · 2026
    Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Daphna RothschildDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.
Teodorus Theo SusantoDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.
Xin SuiDepartment of Chemistry, Massachusetts Institute of Technology, Cambridge, MA 02139, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Jeffrey P SpenceDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.
Ramya RanganBiophysics Program, Stanford University, Stanford, CA 94305, USA.
Naomi R GenuthDepartment of Genetics, Stanford University, Stanford, CA 94305, USA; Department of Biology, Stanford University, Stanford, CA 94305, USA.
Nasa Sinnott-ArmstrongDepartment of Genetics, Stanford University, Stanford, CA 94305, USA.
Xiao WangDepartment of Chemistry, Massachusetts Institute of Technology, Cambridge, MA 02139, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Jonathan K PritchardDepartment of Genetics, Stanford University, Stanford, CA 94305, USA; Department of Biology, Stanford University, Stanford, CA 94305, USA.
Maria BarnaDepartment of Genetics, Stanford University, Stanford, CA 94305, USA. Electronic address: mbarna@stanford.edu.

Funding

Integration of genetic association mapping and functional data to elucidate genetic mechanisms of diseaseR01HG008140 · NHGRI · STANFORD UNIVERSITY · PI JONATHAN K PRITCHARD · 2016 to 2026
$7.3M
Specialized Translational Control of Stem Cell Differentiation and Embryonic DevelopmentR01HD086634 · NICHD · STANFORD UNIVERSITY · PI BARNA, MARIA · 2016 to 2025
$5.5M
Single-cell in situ analysis of RNA modifications in intact tissuesDP2GM146245 · NIGMS · BROAD INSTITUTE, INC. · PI WANG, XIAO · 2021 to 2024
$2.4M
NHGRI NIH HHS R01 HG008140NICHD NIH HHS R01 HD086634NIGMS NIH HHS DP2 GM146245
6 · The paper itself

Abstract

With hundreds of copies of rDNA, it is unknown whether they possess sequence variations that form different types of ribosomes. Here, we developed an algorithm for long-read variant calling, termed RGA, which revealed that variations in human rDNA loci are predominantly insertion-deletion (indel) variants. We developed full-length rRNA sequencing (RIBO-RT) and in situ sequencing (SWITCH-seq), which showed that translating ribosomes possess variation in rRNA. Over 1,000 variants are lowly expressed. However, tens of variants are abundant and form distinct rRNA subtypes with different structures near indels as revealed by long-read rRNA structure probing coupled to dimethyl sulfate sequencing. rRNA subtypes show differential expression in endoderm/ectoderm-derived tissues, and in cancer, low-abundance rRNA variants can become highly expressed. Together, this study identifies the diversity of ribosomes at the level of rRNA variants, their chromosomal location, and unique structure as well as the association of ribosome variation with tissue-specific biology and cancer.

Indexed as

RibosomesRNA, RibosomalAlgorithmsDNA, RibosomalGenetic VariationHumansINDEL MutationNeoplasmsDNA, RibosomalRNA, Ribosomalin situ sequencingrDNArDNA sequence variationsrepetitive genomic elementsribosomeribosome heterogeneityrRNArRNA association with development and cancerrRNA sequence variationsrRNA structure

Identifiers

PMID39111318
PMCPMC11480859

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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.