Evidence map›Paper›PMID 35115551›Full record

ArticleNature communications2022

A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis.

Nic Robertson, Vadim Shchepachev, David Wright, Tomasz W Turowski, Christos Spanos, Aleksandra Helwak, Rose Zamoyska, David Tollervey

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed
4.5field-weighted citation impact, top 4% of its field
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

33 citing papers in PubMed, 53 citations in OpenAlex.

  1. Review
  2. Article
  3. RiboScreenBiomedicines · 2026
    Review
  4. Review
  5. Article
  6. Human lncRNAProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  7. Article
  8. RNase MRP subunit composition and role in 40S ribosome biogenesis.Nature structural & molecular biology · 2026
    Article
  9. Review
  10. Article
  11. Review
  12. VIRMA-mediated mScience advances · 2025
    Article
  13. Article
  14. Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025
    Review
  15. Article
  16. Molecular determinants of RNase MRP specificity and function.bioRxiv : the preprint server for biology · 2025
    Article
  17. Article
  18. Article
  19. Article
  20. Noncoding RNA Contribution to Aging and Lifespan.The journals of gerontology. Series A, Biological sciences and medical sciences · 2024
    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

8 authors at 3 institutions in 1 country.

Nic RobertsonWellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK.
Vadim ShchepachevThe Gurdon Institute and Department of Pathology, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-8551-5940
David WrightAshworth Laboratories, Institute of Immunology and Infection Research, University of Edinburgh, Edinburgh, UK.
Tomasz W TurowskiWellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-7052-8682
Christos SpanosWellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-4376-8242
Aleksandra HelwakWellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK.
Rose ZamoyskaAshworth Laboratories, Institute of Immunology and Infection Research, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0001-9816-2638
David TollerveyWellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK. D.Tollervey@ed.ac.uk.ORCID http://orcid.org/0000-0003-2894-2772
Wellcome Centre for Cell Biology · GBCentre for Immunity, Infection and Evolution · GBUniversity of Cambridge · GB

Funding

Wellcome Trust 077248Wellcome Trust 203149Wellcome Trust 205014Wellcome Trust 205014/Z/16/ZWellcome Trust 210101
6 · The paper itself

Abstract

RMRP encodes a non-coding RNA forming the core of the RNase MRP ribonucleoprotein complex. Mutations cause Cartilage Hair Hypoplasia (CHH), characterized by skeletal abnormalities and impaired T cell activation. Yeast RNase MRP cleaves a specific site in the pre-ribosomal RNA (pre-rRNA) during ribosome synthesis. CRISPR-mediated disruption of RMRP in human cells lines caused growth arrest, with pre-rRNA accumulation. Here, we analyzed disease-relevant primary cells, showing that mutations in RMRP impair mouse T cell activation and delay pre-rRNA processing. Patient-derived human fibroblasts with CHH-linked mutations showed similar pre-rRNA processing delay. Human cells engineered with the most common CHH mutation (70

Indexed as

MutationAnimalsBase SequenceCell ProliferationCells, CulturedEndoribonucleasesFibroblastsHairHirschsprung DiseaseHumansK562 CellsMiceMice, Inbred C57BLMice, KnockoutOsteochondrodysplasiasPrimary Immunodeficiency DiseasesEndoribonucleasesmitochondrial RNA-processing endoribonucleaseRMRP non-coding RNA, humanRNA, Long NoncodingRNA PrecursorsRNA, Ribosomal

Identifiers

PMID35115551
PMCPMC8814244
OpenAlexW4225700086

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.