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Translational regulation by upstream open reading frames and human diseases

2019-08-07Journal article Restricted access
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dc.contributor.authorSilva, Joana
dc.contributor.authorFernandes, Rafael
dc.contributor.authorRomão, Luísa
dc.date.accessioned2020-04-30T22:05:30Z
dc.date.available2020-04-30T22:05:30Z
dc.date.issued2019-08-07
dc.descriptionPart of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1157)pt_PT
dc.descriptionL. Romão (ed.), The mRNA Metabolism in Human Disease, Advances in Experimental Medicine and Biology 1157, https://doi.org/10.1007/978-3-030-19966-1_5pt_PT
dc.description.abstractShort upstream open reading frames (uORFs) are cis-acting elements located within the 5'-leader sequence of transcripts and are defined by an initiation codon in-frame with a termination codon located upstream or downstream of its main ORF (mORF) initiation codon. Recent genome-wide ribosome profiling studies have confirmed the widespread presence of uORFs and have shown that many uORFs can initiate with non-AUG codons. uORFs can impact gene expression of the downstream mORF by triggering mRNA decay or by regulating translation. Thus, disruption or creation of uORFs can elicit the development of several genetic diseases. Here, we review the mechanisms by which AUG- and non-AUG uORFs regulate translation. We also show some examples of uORF deregulation in human genetic diseases, focusing mainly on cancer. The knowledge of how uORF deregulation drives the onset of a disease, points out the need to screen the 5'-leader sequences of the transcripts in search for potential disease-related variants. This information will be relevant for the implementation of new diagnostic and/or therapeutic tools.pt_PT
dc.description.sponsorshipWork partially supported by UID/MULTI/04046/2013 centre grant from FCT, Portugal (to BioISI), and by National Institute of Health Dr. Ricardo Jorge. J.F.P.S. is recipient of a fellowship from BioSys PhD programme (SFRH/BD/106081/2015) from FCT (Portugal). R.Q.F. is recipient of a fellowship from BioSys PhD programme (SFRH/BD/114392/2016) from FCT (Portugalpt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAdv Exp Med Biol. 2019;1157:99-116. doi: 10.1007/978-3-030-19966-1_5pt_PT
dc.identifier.doi10.1007/978-3-030-19966-1_5pt_PT
dc.identifier.issn0065-2598
dc.identifier.urihttp://hdl.handle.net/10400.18/6568
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Verlagpt_PT
dc.relation.publisherversionhttps://link.springer.com/chapter/10.1007%2F978-3-030-19966-1_5pt_PT
dc.subjectGenetic Diseasept_PT
dc.subjectNon-AUG Upstream Open Reading Frame (uORF)pt_PT
dc.subjectStresspt_PT
dc.subjectTranslational Regulationpt_PT
dc.subjectTranslatomept_PT
dc.subjectuORFpt_PT
dc.subjectuORF-encoded Peptidept_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectGenómica Funcional e Estruturalpt_PT
dc.titleTranslational regulation by upstream open reading frames and human diseasespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/UID%2FMulti%2F04046%2F2013/PT
oaire.citation.endPage116pt_PT
oaire.citation.startPage99pt_PT
oaire.citation.titleAdvances in Experimental Medicine and Biologypt_PT
oaire.citation.volume1157pt_PT
oaire.fundingStream5876
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctDe acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicationdc84f768-e6f2-4eea-b294-6c8ebbd1a156
relation.isProjectOfPublication.latestForDiscoverydc84f768-e6f2-4eea-b294-6c8ebbd1a156

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