Evidence map›Paper›PMID 27356879›Full record

ArticleNature communications2016

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3.

Lindsey Van Haute, Sabine Dietmann, Laura Kremer, Shobbir Hussain, Sarah F Pearce, Christopher A Powell, Joanna Rorbach, Rebecca Lantaff, Sandra Blanco, Sascha Sauer and 9 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 175 papers.

0numbers the graph read from it
0cells of the map it votes in
175citing papers in PubMed
13.1field-weighted citation impact, top 1% 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

175 citing papers in PubMed, 248 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Review
  5. Review
  6. Review
  7. Interplay of RNA mFASEB bioAdvances · 2026
    Article
  8. mBiology direct · 2026
    Review
  9. Article
  10. Review
  11. Review
  12. Article
  13. Review
  14. NSUN7 is a catalytically inactive RNA mNature communications · 2025
    Article
  15. Review
  16. Advances in RNA modification in myocardial fibrosis (Review).International journal of molecular medicine · 2025
    Review
  17. Review
  18. Article
  19. Article
  20. Article

115 more citing papers are in PubMed but not listed here.

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

19 authors at 9 institutions in 4 countries.

Lindsey Van HauteMRC Mitochondrial Biology Unit, Hills Road, Cambridge CB2 0XY, UK.
Sabine DietmannWellcome Trust-Medical Research Council Cambridge Stem Cell Institute, Genetics, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK.
Laura KremerHelmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Institute of Human Genetics, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.
Shobbir HussainDepartment of Biology &Biochemistry, University of Bath, Claverton Down, Bath, BA2 7AY, UK.
Sarah F PearceMRC Mitochondrial Biology Unit, Hills Road, Cambridge CB2 0XY, UK.
Christopher A PowellMRC Mitochondrial Biology Unit, Hills Road, Cambridge CB2 0XY, UK.
Joanna RorbachMRC Mitochondrial Biology Unit, Hills Road, Cambridge CB2 0XY, UK.
Rebecca LantaffDepartment of Physiology Development and Neuroscience, University of Cambridge, Downing Street, Cambridge CB2 3DY, UK.
Sandra BlancoWellcome Trust-Medical Research Council Cambridge Stem Cell Institute, Genetics, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK.
Sascha SauerMax-Planck-Institute for Molecular Genetics, Otto-Warburg Laboratory, 14195 Berlin, Germany.
Urania KotzaeridouDepartment of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital, 69120 Heidelberg, Germany.
Georg F HoffmannDepartment of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital, 69120 Heidelberg, Germany.
Yasin MemariWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Anja Kolb-KokocinskiWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Richard DurbinWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.ORCID 0000-0002-9130-1006
Johannes A MayrDepartment of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg 5020, Austria.
Michaela FryeWellcome Trust-Medical Research Council Cambridge Stem Cell Institute, Genetics, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK.
Holger ProkischHelmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Institute of Human Genetics, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.ORCID 0000-0003-2379-6286
Michal MinczukMRC Mitochondrial Biology Unit, Hills Road, Cambridge CB2 0XY, UK.
MRC Mitochondrial Biology Unit · GBWellcome/MRC Cambridge Stem Cell Institute · GBWellcome Sanger Institute · GBHeidelberg University · DEHelmholtz Zentrum München · DEMax Delbrück Center · DEParacelsus Medical University · ATUniversity of Bath · GBUniversity of Cambridge · GB

Funding

Cancer Research UK 15181European Research Council 310360Medical Research Council G0801904Medical Research Council MC_PC_12009Medical Research Council MC_U105697135Medical Research Council MR/M01939X/1Wellcome Trust
6 · The paper itself

Abstract

Epitranscriptome modifications are required for structure and function of RNA and defects in these pathways have been associated with human disease. Here we identify the RNA target for the previously uncharacterized 5-methylcytosine (m(5)C) methyltransferase NSun3 and link m(5)C RNA modifications with energy metabolism. Using whole-exome sequencing, we identified loss-of-function mutations in NSUN3 in a patient presenting with combined mitochondrial respiratory chain complex deficiency. Patient-derived fibroblasts exhibit severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. We show that NSun3 is required for deposition of m(5)C at the anticodon loop in the mitochondrially encoded transfer RNA methionine (mt-tRNA(Met)). Further, we demonstrate that m(5)C deficiency in mt-tRNA(Met) results in the lack of 5-formylcytosine (f(5)C) at the same tRNA position. Our findings demonstrate that NSUN3 is necessary for efficient mitochondrial translation and reveal that f(5)C in human mitochondrial RNA is generated by oxidative processing of m(5)C.

Indexed as

Gene Expression RegulationHEK293 CellsHeLa CellsHumansMethylationMethyltransferasesMitochondriaMitochondrial DiseasesMutationRNA, TransferMethyltransferasesNSUN3 protein, humanRNA, Transfer

Identifiers

PMID27356879
PMCPMC4931328
OpenAlexW2468387813

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.