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Alternative splicing : the pledge, the turn, and the prestige : the key role of alternative splicing in human biological systems

2017Journal article Open access
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dc.contributor.authorGallego Páez, Lina Marcela
dc.contributor.authorBordone, Marie C.
dc.contributor.authorLeote, Ana Carolina
dc.contributor.authorSaraiva-Agostinho, Nuno
dc.contributor.authorAscensão-Ferreira, Mariana
dc.contributor.authorBarbosa-Morais, Nuno
dc.date.accessioned2021-07-19T11:23:44Z
dc.date.available2021-07-19T11:23:44Z
dc.date.issued2017
dc.description© The Author(s) 2017. This article is an open access publication. Open Access. This article is distributed under the terms of the Crea-tive Commons Attribution 4.0 International License (http://crea-tivecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.pt_PT
dc.description.abstractAlternative pre-mRNA splicing is a tightly controlled process conducted by the spliceosome, with the assistance of several regulators, resulting in the expression of different transcript isoforms from the same gene and increasing both transcriptome and proteome complexity. The differences between alternative isoforms may be subtle but enough to change the function or localization of the translated proteins. A fine control of the isoform balance is, therefore, needed throughout developmental stages and adult tissues or physiological conditions and it does not come as a surprise that several diseases are caused by its deregulation. In this review, we aim to bring the splicing machinery on stage and raise the curtain on its mechanisms and regulation throughout several systems and tissues of the human body, from neurodevelopment to the interactions with the human microbiome. We discuss, on one hand, the essential role of alternative splicing in assuring tissue function, diversity, and swiftness of response in these systems or tissues, and on the other hand, what goes wrong when its regulatory mechanisms fail. We also focus on the possibilities that splicing modulation therapies open for the future of personalized medicine, along with the leading techniques in this field. The final act of the spliceosome, however, is yet to be fully revealed, as more knowledge is needed regarding the complex regulatory network that coordinates alternative splicing and how its dysfunction leads to disease.pt_PT
dc.description.sponsorshipThe authors are supported by: EMBO Installation Grant (3057), Investigador FCT Starting Grant (IF/00595/2014) and iMM Lisboa start-up funds to NLB-M; Postdoctoral fellowships by UNESCO-L’Oreal For Women in Science Program (ERI/NCS/FLP/CDC.13.94) and iMM/FCT/MEC/FEDER (IMM/BPD/45-2016, LISBOA-01-0145-FEDER-007391) to LG-P; Fundação para a Ciência e Tecnologia (FCT) PhD fellowships to MCB (PD/BD/105854/2014) and MA-F (PD/BD/128283/2017); Fundação AstraZeneca Innovate Competition Award to MA-F.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationHum Genet. 2017 Sep;136(9):1015-1042pt_PT
dc.identifier.doi10.1007/s00439-017-1790-ypt_PT
dc.identifier.eissn1432-1203
dc.identifier.issn0340-6717
dc.identifier.urihttp://hdl.handle.net/10451/48979
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Naturept_PT
dc.relationIMM/BPD/45-2016pt_PT
dc.relationLISBOA-01-0145-FEDER-007391pt_PT
dc.relationThe transcriptional landscape of Parkinson´s disease
dc.relationWhen introns behave like exons: intron retention as a mechanism for dynamic regulation of gene expression
dc.relation.publisherversionhttps://www.springer.com/journal/439pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectAlternative splicept_PT
dc.subjectDuchenne muscular dystrophypt_PT
dc.subjectRound spermatidpt_PT
dc.subjectSpinal muscular atrophypt_PT
dc.subjectSplice factorpt_PT
dc.titleAlternative splicing : the pledge, the turn, and the prestige : the key role of alternative splicing in human biological systemspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleThe transcriptional landscape of Parkinson´s disease
oaire.awardTitleWhen introns behave like exons: intron retention as a mechanism for dynamic regulation of gene expression
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/Investigador FCT/IF%2F00595%2F2014%2FCP1236%2FCT0002/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/PD%2FBD%2F105854%2F2014/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/PD%2FBD%2F128283%2F2017/PT
oaire.citation.endPage1042pt_PT
oaire.citation.issue9pt_PT
oaire.citation.startPage1015pt_PT
oaire.citation.titleHuman Geneticspt_PT
oaire.citation.volume136pt_PT
oaire.fundingStreamInvestigador FCT
oaire.fundingStreamOE
oaire.fundingStreamOE
person.familyNameGallego Páez
person.familyNameBordone
person.familyNameLeote
person.familyNameSaraiva Agostinho
person.familyNameAscensão Ferreira
person.familyNameBARBOSA MORAIS
person.givenNameLina Marcela
person.givenNameMarie
person.givenNameAna Carolina
person.givenNameNuno Daniel
person.givenNameMariana
person.givenNameNUNO LUÍS
person.identifierI-2743-2013
person.identifier.ciencia-id5C1E-0C03-E7F4
person.identifier.ciencia-id0315-C8C7-6978
person.identifier.ciencia-idC010-6F95-9F53
person.identifier.ciencia-id5C19-CA77-A74D
person.identifier.orcid0000-0003-0255-8131
person.identifier.orcid0000-0003-3061-0988
person.identifier.orcid0000-0003-0879-328X
person.identifier.orcid0000-0002-5549-105X
person.identifier.orcid0000-0002-5247-246X
person.identifier.orcid0000-0002-1215-0538
person.identifier.ridD-4411-2017
person.identifier.scopus-author-id57193712430
person.identifier.scopus-author-id6507555084
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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