Evidence map›Paper›PMID 39511375›Full record

ArticleCommunications biology2024

A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint.

Young-Gon Kim, Hyunju Kang, Beomki Lee, Hyeok-Jae Jang, Jong-Ho Park, Changhee Ha, Hogun Park, Jong-Won Kim

Abstract read
In one paragraph

Article in Communications biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
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  5. Article
  6. CRISPR/Cas9-mediatedFrontiers in physiology · 2026
    Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
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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.

Young-Gon Kim *Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Hyunju Kang *Department of Artificial Intelligence, Sungkyunkwan University College of Computing and Informatics, Suwon, Republic of Korea.
Beomki Lee *Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.ORCID 0000-0003-3463-2121
Hyeok-Jae JangSamsung Advanced Institute for Health Sciences & Technology (SAIHST), Seoul, Republic of Korea.
Jong-Ho ParkClinical Genomics Center, Samsung Medical Center, Seoul, Republic of Korea.
Changhee HaDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.ORCID 0000-0002-0750-5824
Hogun ParkDepartment of Artificial Intelligence, Sungkyunkwan University College of Computing and Informatics, Suwon, Republic of Korea. hogunpark@skku.edu.ORCID 0000-0003-0576-5806
Jong-Won KimDepartment of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. kimjw@skku.edu.ORCID 0000-0002-0708-9242

Funding

National Research Foundation of Korea (NRF) 2022R1A2C2091571National Research Foundation of Korea (NRF) No.1711180477
6 · The paper itself

Abstract

Despite its importance for regulating gene expression, nonsense-mediated mRNA decay (NMD) remains poorly understood. Here, we extend the findings of a previous landmark study that proposed several factors associated with NMD efficiency using matched genome and transcriptome data from The Cancer Genome Atlas Program (TCGA) by incorporating additional data including Genotype-Tissue Expression (GTEx), gnomAD, and metrics for mutational constraints. Factors affecting NMD efficiency are analyzed using an allele-specific expression (ASE)-based measure to reduce noise caused by random variations. Additionally, by combining our data with the updated allele frequency database of gnomAD, we demonstrate the spectrum of NMD efficiency according to the degree of gene-level mutational constraints (degree of a gene-tolerating loss-of-function variants). The NMD prediction model, trained on TCGA data, shows that gene-level mutational constraint is an important predictor of NMD efficiency. Findings of this study suggest the potential role of NMD on shaping the landscape of mutational constraints.

Indexed as

MutationNonsense Mediated mRNA DecayAllelesCodon, NonsenseGene FrequencyHumansNeoplasmsRNA, MessengerTranscriptomeCodon, NonsenseRNA, Messenger

Identifiers

PMID39511375
PMCPMC11544006

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.