Gene expression regulation by upstream open reading frames in rare diseases

Detalhes bibliográficos
Autor(a) principal: Silva, Joana
Data de Publicação: 2017
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/10400.18/5129
Resumo: Upstream open reading frames (uORFs) constitute a class of cis-acting elements that regulate translation initiation. Mutations or polymorphisms that alter, create or disrupt a uORF have been widely associated with several human disorders, including rare diseases. In this mini-review, we intend to highlight the mechanisms associated with the uORF-mediated translational regulation and describe recent examples of their deregulation in the etiology of human rare diseases. Additionally, we discuss new insights arising from ribosome profiling studies and reporter assays regarding uORF features and their intrinsic role in translational regulation. This type of knowledge is of most importance to design and implement new or improved diagnostic and/or treatment strategies for uORF-related human disorders.
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spelling Gene expression regulation by upstream open reading frames in rare diseasesUpstream Open Reading Frames (uORFs)Non-AUG Initiation CodonTranslation InitiationTranslational RegulationHuman Rare DiseaseStressExpressão GénicaGenómica Funcional e EstruturalUpstream open reading frames (uORFs) constitute a class of cis-acting elements that regulate translation initiation. Mutations or polymorphisms that alter, create or disrupt a uORF have been widely associated with several human disorders, including rare diseases. In this mini-review, we intend to highlight the mechanisms associated with the uORF-mediated translational regulation and describe recent examples of their deregulation in the etiology of human rare diseases. Additionally, we discuss new insights arising from ribosome profiling studies and reporter assays regarding uORF features and their intrinsic role in translational regulation. This type of knowledge is of most importance to design and implement new or improved diagnostic and/or treatment strategies for uORF-related human disorders.This work was partially supported by Fundação para a Ciência e a Tecnologia (UID/MULTI/04046/2013 to BioISI from FCT/MCTES/PIDDAC). JS and RF are supported by fellowships from Fundação para a Ciência e a Tecnologia (SFRH/BD/106081/2015 and SFRH/BD/114392/2016, respectively).[s.n.]Repositório Científico do Instituto Nacional de SaúdeSilva, JoanaFernandes, RafaelRomão, Luísa2018-03-02T14:49:40Z2017-07-212017-07-21T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/5129engJ Rare Dis Res Treat. 2017;2(4):33-38.www.rarediseasesjournal.cominfo: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:RCAAP2023-07-20T15:40:40Zoai:repositorio.insa.pt:10400.18/5129Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:39:50.015147Repositório 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 Gene expression regulation by upstream open reading frames in rare diseases
title Gene expression regulation by upstream open reading frames in rare diseases
spellingShingle Gene expression regulation by upstream open reading frames in rare diseases
Silva, Joana
Upstream Open Reading Frames (uORFs)
Non-AUG Initiation Codon
Translation Initiation
Translational Regulation
Human Rare Disease
Stress
Expressão Génica
Genómica Funcional e Estrutural
title_short Gene expression regulation by upstream open reading frames in rare diseases
title_full Gene expression regulation by upstream open reading frames in rare diseases
title_fullStr Gene expression regulation by upstream open reading frames in rare diseases
title_full_unstemmed Gene expression regulation by upstream open reading frames in rare diseases
title_sort Gene expression regulation by upstream open reading frames in rare 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 Upstream Open Reading Frames (uORFs)
Non-AUG Initiation Codon
Translation Initiation
Translational Regulation
Human Rare Disease
Stress
Expressão Génica
Genómica Funcional e Estrutural
topic Upstream Open Reading Frames (uORFs)
Non-AUG Initiation Codon
Translation Initiation
Translational Regulation
Human Rare Disease
Stress
Expressão Génica
Genómica Funcional e Estrutural
description Upstream open reading frames (uORFs) constitute a class of cis-acting elements that regulate translation initiation. Mutations or polymorphisms that alter, create or disrupt a uORF have been widely associated with several human disorders, including rare diseases. In this mini-review, we intend to highlight the mechanisms associated with the uORF-mediated translational regulation and describe recent examples of their deregulation in the etiology of human rare diseases. Additionally, we discuss new insights arising from ribosome profiling studies and reporter assays regarding uORF features and their intrinsic role in translational regulation. This type of knowledge is of most importance to design and implement new or improved diagnostic and/or treatment strategies for uORF-related human disorders.
publishDate 2017
dc.date.none.fl_str_mv 2017-07-21
2017-07-21T00:00:00Z
2018-03-02T14:49:40Z
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/10400.18/5129
url http://hdl.handle.net/10400.18/5129
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Rare Dis Res Treat. 2017;2(4):33-38.
www.rarediseasesjournal.com
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 [s.n.]
publisher.none.fl_str_mv [s.n.]
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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