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Grant support

This work was funded by the European Research Council (ERC) starting grant HYPER-INSIGHT (757700, to F.S.) and ERC consolidator grant IR-DC (616434 to B.L.) . F.S. and B.L. are funded by the ICREA Research Professor program. F.S. and B.L. acknowledge support of the Severo Ochoa Centres of Excellence program to the IRB Barcelona and to the CRG, respectively. B.L. and F.S. were supported by the Fondo Europeo de Desarrollo Regional (FEDER) /Ministerio de Ciencia, Innovacion y UniversidadesAgencia Estatal de Investigacion projects BFU2017-89488-P and RegioMut (BFU201789833P) , respectively. B.L. was further supported by the Bettencourt Schueller Foundation, the Agencia de Gestio d'Ajuts Universitaris i de Recerca (2017 SGR 1322) , and the Centres de Recerca de Catalunya (CERCA) program/Generalitat de Catalunya. B.L. also acknowledges the support of the Spanish Ministry of Economy, Industry, and Competitiveness to the European Molecular Biology Laboratory (EMBL) partnership.

Analysis of institutional authors

Supek FCorresponding AuthorLehner, BAuthor

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December 11, 2020
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Review

To NMD or Not To NMD: Nonsense-Mediated mRNA Decay in Cancer and Other Genetic Diseases

Publicated to:Trends In Genetics. 37 (7): 657-668 - 2021-07-01 37(7), DOI: 10.1016/j.tig.2020.11.002

Authors: Supek, F; Lehner, B; Lindeboom, RGH

Affiliations

Barcelona Inst Sci & Technol BIST, Ctr Genom Regulat CRG, Barcelona, Spain - Author
Barcelona Inst Sci & Technol BIST, Inst Res Biomed IRB Barcelona, Barcelona, Spain - Author
Catalan Inst Res & Adv Studies ICREA, Barcelona, Spain - Author
Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain - Author
Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain. Electronic address: fran.supek@irbbarcelona.org. - Author
Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain - Author
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain - Author
Univ Pompeu Fabra UPF, Barcelona, Spain - Author
Universitat Pompeu Fabra (UPF), Barcelona, Spain. - Author
Wellcome Sanger Inst, Cambridge, England - Author
Wellcome Sanger Institute, Cambridge, UK. - Author
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Abstract

The nonsense-mediated mRNA decay (NMD) pathway degrades some but not all mRNAs bearing premature termination codons (PTCs). Decades of work have elucidated the molecular mechanisms of NMD. More recently, statistical analyses of large genomic datasets have allowed the importance of known and novel 'rules of NMD' to be tested and combined into methods that accurately predict whether PTC-containing mRNAs are degraded or not. We discuss these genomic approaches and how they can be applied to identify diseases and individuals that may benefit from inhibition or activation of NMD. We also discuss the importance of NMD for gene editing and tumor evolution, and how inhibiting NMD may be an effective strategy to increase the efficacy of cancer immunotherapy.Copyright © 2020 Elsevier Ltd. All rights reserved.

Keywords

expressiongenomeidentificationintronmutationsproteinselectiontranscriptometranslation reinitiationAlternative splicingCancer immunotherapyCodon, nonsenseGenetic diseaseGenetic diseases, inbornGenetic variant interpretationHumansLoss-of-function variantsNeoplasmsNonsense mediated mrna decayOf-function variantsRna, messengerTranscriptomicsTumor-suppressor genes

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Trends In Genetics due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2021, it was in position 9/175, thus managing to position itself as a Q1 (Primer Cuartil), in the category Genetics & Heredity. Notably, the journal is positioned above the 90th percentile.

From a relative perspective, and based on the normalized impact indicator calculated from World Citations provided by WoS (ESI, Clarivate), it yields a value for the citation normalization relative to the expected citation rate of: 10.43. This indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: ESI Nov 14, 2024)

This information is reinforced by other indicators of the same type, which, although dynamic over time and dependent on the set of average global citations at the time of their calculation, consistently position the work at some point among the top 50% most cited in its field:

  • Field Citation Ratio (FCR) from Dimensions: 34.74 (source consulted: Dimensions Jul 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-07-09, the following number of citations:

  • WoS: 139
  • Scopus: 13
  • Europe PMC: 99

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-07-09:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 176.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 182 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 13.1.
  • The number of mentions on the social network X (formerly Twitter): 26 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: United Kingdom.

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: First Author (Supek, Fran) .

the author responsible for correspondence tasks has been Supek, Fran.