Translational regulation by upstream open reading frames and human diseases

Detalhes bibliográficos
Autor(a) principal: Silva, Joana
Data de Publicação: 2019
Outros Autores: Fernandes, Rafael, 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/10400.18/6568
Resumo: Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1157)
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spelling Translational regulation by upstream open reading frames and human diseasesGenetic DiseaseNon-AUG Upstream Open Reading Frame (uORF)StressTranslational RegulationTranslatomeuORFuORF-encoded PeptideDoenças GenéticasGenómica Funcional e EstruturalPart of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1157)L. 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_5Short 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.Work 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 (PortugalSpringer VerlagRepositório Científico do Instituto Nacional de SaúdeSilva, JoanaFernandes, RafaelRomão, Luísa2020-04-30T22:05:30Z2019-08-072019-08-07T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/6568engAdv Exp Med Biol. 2019;1157:99-116. doi: 10.1007/978-3-030-19966-1_50065-259810.1007/978-3-030-19966-1_5info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:41:35Zoai:repositorio.insa.pt:10400.18/6568Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:41:21.718113Repositório 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 Translational regulation by upstream open reading frames and human diseases
title Translational regulation by upstream open reading frames and human diseases
spellingShingle Translational regulation by upstream open reading frames and human diseases
Silva, Joana
Genetic Disease
Non-AUG Upstream Open Reading Frame (uORF)
Stress
Translational Regulation
Translatome
uORF
uORF-encoded Peptide
Doenças Genéticas
Genómica Funcional e Estrutural
title_short Translational regulation by upstream open reading frames and human diseases
title_full Translational regulation by upstream open reading frames and human diseases
title_fullStr Translational regulation by upstream open reading frames and human diseases
title_full_unstemmed Translational regulation by upstream open reading frames and human diseases
title_sort Translational regulation by upstream open reading frames and human diseases
author Silva, Joana
author_facet Silva, Joana
Fernandes, Rafael
Romão, Luísa
author_role author
author2 Fernandes, Rafael
Romão, Luísa
author2_role author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Silva, Joana
Fernandes, Rafael
Romão, Luísa
dc.subject.por.fl_str_mv Genetic Disease
Non-AUG Upstream Open Reading Frame (uORF)
Stress
Translational Regulation
Translatome
uORF
uORF-encoded Peptide
Doenças Genéticas
Genómica Funcional e Estrutural
topic Genetic Disease
Non-AUG Upstream Open Reading Frame (uORF)
Stress
Translational Regulation
Translatome
uORF
uORF-encoded Peptide
Doenças Genéticas
Genómica Funcional e Estrutural
description Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1157)
publishDate 2019
dc.date.none.fl_str_mv 2019-08-07
2019-08-07T00:00:00Z
2020-04-30T22:05:30Z
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/10400.18/6568
url http://hdl.handle.net/10400.18/6568
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Adv Exp Med Biol. 2019;1157:99-116. doi: 10.1007/978-3-030-19966-1_5
0065-2598
10.1007/978-3-030-19966-1_5
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer Verlag
publisher.none.fl_str_mv Springer Verlag
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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