Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.

Michael A Cortázar, Jacob Schmidt, Iman Egab, Zeynep Coban-Akdemir, Sujatha Jagannathan

Abstract readPreprint

In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Michael A CortázarDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Jacob SchmidtHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.

Iman EgabHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.

Zeynep Coban-AkdemirHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.ORCID 0000-0001-9928-9032

Sujatha JagannathanDepartment of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Funding

Understanding the variability in nonsense-mediated RNA decayR35GM133433 · NIGMS · UNIVERSITY OF COLORADO DENVER · PI Sujatha Jagannathan · 2019 to 2026

$3.1M

NIGMS NIH HHS R35 GM133433

6 · The paper itself

Abstract

Nonsense-mediated mRNA decay (NMD) degrades transcripts containing premature termination codons (PTCs), critically shaping the disease outcomes of protein-truncating variants. While existing NMD rules categorize PTCs as NMD-triggering or NMD-evading, they cannot quantitatively predict the degree of NMD activity for a given endogenous PTC variant. To provide quantitative insight into NMD, we used saturation genome editing (SGE) to systematically introduce all possible PTCs (TAA, TAG, TGA) at every codon position spanning the first, penultimate, and three internal exons of the Lamin A/C (

Indexed as

exon junction complexNMDPTCreadthroughtranslation

Identifiers

PMID41509423

DOI10.64898/2025.12.20.695734

PMCPMC12776119

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LicenceCC BY-NC-ND

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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.