Evidence map›Paper›PMID 28570605›Full record

ArticlePloS one2017

Frameshift indels introduced by genome editing can lead to in-frame exon skipping.

Simon Lalonde, Oliver A Stone, Samuel Lessard, Adam Lavertu, Jessica Desjardins, Mélissa Beaudoin, Manuel Rivas, Didier Y R Stainier, Guillaume Lettre

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.

0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed
5.5field-weighted citation impact, top 3% 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

63 citing papers in PubMed, 100 citations in OpenAlex.

  1. Article
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  11. Origins and Genetic Characteristics of Egyptian Peach.International journal of molecular sciences · 2024
    Article
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  15. Review
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  17. CRISPR/Cas9 Vector Construction for Gene Knockout.Methods in molecular biology (Clifton, N.J.) · 2024
    Article
  18. Article
  19. Review
  20. Genetic and Molecular Quality Control of Genetically Engineered Mice.Methods in molecular biology (Clifton, N.J.) · 2023
    Article

3 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

9 authors at 3 institutions in 3 countries.

Simon LalondeMontreal Heart Institute, Montreal, Quebec, Canada.
Oliver A StoneDepartment of Biochemistry & Biophysics, UCSF, San Francisco, California, United States of America.
Samuel LessardMontreal Heart Institute, Montreal, Quebec, Canada.
Adam LavertuDepartment of Biomedical Data Science, Stanford University, Stanford, California, United States of America.
Jessica DesjardinsMontreal Heart Institute, Montreal, Quebec, Canada.
Mélissa BeaudoinMontreal Heart Institute, Montreal, Quebec, Canada.
Manuel RivasDepartment of Biomedical Data Science, Stanford University, Stanford, California, United States of America.
Didier Y R StainierDepartment of Biochemistry & Biophysics, UCSF, San Francisco, California, United States of America.
Guillaume LettreMontreal Heart Institute, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-7740-3399
Montreal Heart Institute · CAStanford University · USUniversity of California, San Francisco · US

Funding

MOLECULAR GENETICS OF CARDIAC CELL DIFFERENTIATIONR01HL054737 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI COUGHLIN, SHAUN R. · 1996 to 2015
$5.4M
Biomedical Data Science Graduate Training at StanfordT32LM012409 · NLM · STANFORD UNIVERSITY · PI PLEVRITIS, SYLVIA KATINA · 2016 to 2020
$1.5M
NHLBI NIH HHS R01 HL054737NLM NIH HHS T32 LM012409
6 · The paper itself

Abstract

The introduction of frameshift indels by genome editing has emerged as a powerful technique to study the functions of uncharacterized genes in cell lines and model organisms. Such mutations should lead to mRNA degradation owing to nonsense-mediated mRNA decay or the production of severely truncated proteins. Here, we show that frameshift indels engineered by genome editing can also lead to skipping of "multiple of three nucleotides" exons. Such splicing events result in in-frame mRNA that may encode fully or partially functional proteins. We also characterize a segregating nonsense variant (rs2273865) located in a "multiple of three nucleotides" exon of LGALS8 that increases exon skipping in human erythroblast samples. Our results highlight the potentially frequent contribution of exonic splicing regulatory elements and are important for the interpretation of negative results in genome editing experiments. Moreover, they may contribute to a better annotation of loss-of-function mutations in the human genome.

Indexed as

ExonsFrameshift MutationGene EditingINDEL MutationCell Line, TransformedHumans

Identifiers

PMID28570605
PMCPMC5453576
OpenAlexW2620568304

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.