Evidence map›Paper›PMID 31307398›Full record

ArticleBMC genomics2019

Assessing cell-specific effects of genetic variations using tRNA microarrays.

Christine Polte, Daniel Wedemeyer, Kathryn E Oliver, Johannes Wagner, Marcel J C Bijvelds, John Mahoney, Hugo R de Jonge, Eric J Sorscher, Zoya Ignatova

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
1.1field-weighted citation impact, top 23% 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

16 citing papers in PubMed, 25 citations in OpenAlex.

  1. Article
  2. The regulation, function and disease relevance of cytoplasmic tRNAs.Nature reviews. Molecular cell biology · 2026
    Review
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  14. Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  15. Review
  16. 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

9 authors at 5 institutions in 3 countries.

Christine PolteBiochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146, Hamburg, Germany.
Daniel WedemeyerBiochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146, Hamburg, Germany.
Kathryn E OliverEmory University School of Medicine, Atlanta, GA, 30322, USA.
Johannes WagnerBiochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146, Hamburg, Germany.
Marcel J C BijveldsGastroenterology and Hepatology Erasmus MC University Medical Center, Rotterdam, The Netherlands.
John MahoneyCystic Fibrosis Foundation CFFT Lab, Lexington, MA, 02421, USA.
Hugo R de JongeGastroenterology and Hepatology Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Eric J SorscherEmory University School of Medicine, Atlanta, GA, 30322, USA.
Zoya IgnatovaBiochemistry and Molecular Biology, Department of Chemistry, University of Hamburg, 20146, Hamburg, Germany. zoya.ignatova@uni-hamburg.de.
Universität Hamburg · DEErasmus MC · NLChildren's Healthcare of Atlanta · USCystic Fibrosis Foundation · USEmory University · US

Funding

Ribosomal perturbation as a mechanism to prevent misfolding of CFTRR01HL136414 · NHLBI · EMORY UNIVERSITY · PI HARTMAN, JOHN L, SORSCHER, ERIC J · 2018 to 2025
$4.5M
Rare mutations in Cystic Fibrosis: Overcoming barriers to personalized medicineR01HL139876 · NHLBI · EMORY UNIVERSITY · PI DAVIS, BRIAN R., SORSCHER, ERIC J · 2018 to 2022
$3.8M
NHLBI NIH HHS R01 HL136414NHLBI NIH HHS R01 HL139876
6 · The paper itself

Abstract

backgroundBy definition, effect of synonymous single-nucleotide variants (SNVs) on protein folding and function are neutral, as they alter the codon and not the encoded amino acid. Recent examples indicate tissue-specific and transfer RNA (tRNA)-dependent effects of some genetic variations arguing against neutrality of synonymous SNVs for protein biogenesis.

resultsWe performed systematic analysis of tRNA abunandance across in various models used in cystic fibrosis (CF) research and drug development, including Fischer rat thyroid (FRT) cells, patient-derived primary human bronchial epithelia (HBE) from lung biopsies, primary human nasal epithelia (HNE) from nasal curettage, intestinal organoids, and airway progenitor-directed differentiation of human induced pluripotent stem cells (iPSCs). These were compared to an immortalized CF bronchial cell model (CFBE41o

conclusionsOur results highlight ways in which the presence of synonymous SNVs may alter local kinetics of mRNA translation; and thus, impact protein biogenesis and function. This effect is likely to influence results from mechansistic analysis and/or drug screeining efforts, and establishes importance of cereful model system selection based on genetic variation profile.

Indexed as

Polymorphism, Single NucleotideCodonCystic Fibrosis Transmembrane Conductance RegulatorGenotypeHEK293 CellsHeLa CellsHumansOligonucleotide Array Sequence AnalysisPhenotypeRNA, TransferCodonCystic Fibrosis Transmembrane Conductance RegulatorRNA, TransferCystic fibrosisNucleotide variantsProtein translationSynonymous single nucleotide polymorphismstRNA

Identifiers

PMID31307398
PMCPMC6632033
OpenAlexW2958296890

What OpenQuestion holds

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LicenceCC BY
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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.