Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA Decay

Detalhes bibliográficos
Autor(a) principal: García-Moreno, Juan
Data de Publicação: 2020
Outros Autores: Romão, Luísa
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/7381
Resumo: Review
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spelling Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA DecayAS-NMDAlternative Splicing (AS)Gene Expression RegulationNonsense-mediated RNA Decay (NMD).Doenças GenéticasGenómica Funcional e EstruturalReviewAlternative splicing (AS) of precursor mRNA (pre-mRNA) is a cellular post-transcriptional process that generates protein isoform diversity. Nonsense-mediated RNA decay (NMD) is an mRNA surveillance pathway that recognizes and selectively degrades transcripts containing premature translation-termination codons (PTCs), thereby preventing the production of truncated proteins. Nevertheless, NMD also fine-tunes the gene expression of physiological mRNAs encoding full-length proteins. Interestingly, around one third of all AS events results in PTC-containing transcripts that undergo NMD. Numerous studies have reported a coordinated action between AS and NMD, in order to regulate the expression of several genes, especially those coding for RNA-binding proteins (RBPs). This coupling of AS to NMD (AS-NMD) is considered a gene expression tool that controls the ratio of productive to unproductive mRNA isoforms, ultimately degrading PTC-containing non-functional mRNAs. In this review, we focus on the mechanisms underlying AS-NMD, and how this regulatory process is able to control the homeostatic expression of numerous RBPs, including splicing factors, through auto- and cross-regulatory feedback loops. Furthermore, we discuss the importance of AS-NMD in the regulation of biological processes, such as cell differentiation. Finally, we analyze interesting recent data on the relevance of AS-NMD to human health, covering its potential roles in cancer and other disorders.This work was partially supported by UID/MULTI/04046/2019 Research Unit grant from Fundação para a Ciência e a Tecnologia (FCT), Portugal (to BioISI). J.F.G.-M. is recipient of a fellowship from BioSys PhD programme PD65-2012 (Ref SFRH/PD/BD/142898/2018) from FCT.MDPIRepositório Científico do Instituto Nacional de SaúdeGarcía-Moreno, JuanRomão, Luísa2021-03-09T17:53:40Z2020-12-102020-12-10T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/7381engInt J Mol Sci. 2020 Dec 10;21(24):9424. doi: 10.3390/ijms212494241661-6596https://doi.org/10.3390/ijms21249424info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:41:59Zoai:repositorio.insa.pt:10400.18/7381Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:42:02.700813Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA Decay
title Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA Decay
spellingShingle Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA Decay
García-Moreno, Juan
AS-NMD
Alternative Splicing (AS)
Gene Expression Regulation
Nonsense-mediated RNA Decay (NMD).
Doenças Genéticas
Genómica Funcional e Estrutural
title_short Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA Decay
title_full Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA Decay
title_fullStr Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA Decay
title_full_unstemmed Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA Decay
title_sort Perspective in Alternative Splicing Coupled to Nonsense-Mediated mRNA Decay
author García-Moreno, Juan
author_facet García-Moreno, Juan
Romão, Luísa
author_role author
author2 Romão, Luísa
author2_role author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv García-Moreno, Juan
Romão, Luísa
dc.subject.por.fl_str_mv AS-NMD
Alternative Splicing (AS)
Gene Expression Regulation
Nonsense-mediated RNA Decay (NMD).
Doenças Genéticas
Genómica Funcional e Estrutural
topic AS-NMD
Alternative Splicing (AS)
Gene Expression Regulation
Nonsense-mediated RNA Decay (NMD).
Doenças Genéticas
Genómica Funcional e Estrutural
description Review
publishDate 2020
dc.date.none.fl_str_mv 2020-12-10
2020-12-10T00:00:00Z
2021-03-09T17:53:40Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/7381
url http://hdl.handle.net/10400.18/7381
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Int J Mol Sci. 2020 Dec 10;21(24):9424. doi: 10.3390/ijms21249424
1661-6596
https://doi.org/10.3390/ijms21249424
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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