Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype
Main Author: | |
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Publication Date: | 2011 |
Other Authors: | , |
Format: | Article |
Language: | eng |
Source: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Download full: | http://hdl.handle.net/10400.18/333 |
Summary: | Messenger RNA (mRNA) stability is a critical determinant that affects gene expression. Many pathways have evolved to modulate mRNA stability in response to developmental, physiological and/or environmental stimuli. Eukaryotic mRNAs have a considerable range of half-lives, from as short as a few minutes to as long as several days. Human globin mRNAs constitute an example of highly stable mRNAs. However, a wide variety of naturally occurring mutations that result in the clinical syndrome of thalassemia can trigger accelerated mRNA decay thus controlling mRNA quality prior to translation. Distinct surveillance mechanisms have been described as being targeted for specific defective globin mRNAs. Here, we review mRNA stability mechanisms implicated in the control of beta-globin gene expression and the surveillance pathways that prevent translation of aberrant beta-globin mRNAs. In addition, we emphasize the importance of these pathways in modulating the severity of the beta-thalassemia phenotype. |
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Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotypemRNA quality controlNonsense-mediated mRNA decaymRNA stabilityBeta-globinBeta-thalassemiaClinical phenotypeDoenças genéticasMessenger RNA (mRNA) stability is a critical determinant that affects gene expression. Many pathways have evolved to modulate mRNA stability in response to developmental, physiological and/or environmental stimuli. Eukaryotic mRNAs have a considerable range of half-lives, from as short as a few minutes to as long as several days. Human globin mRNAs constitute an example of highly stable mRNAs. However, a wide variety of naturally occurring mutations that result in the clinical syndrome of thalassemia can trigger accelerated mRNA decay thus controlling mRNA quality prior to translation. Distinct surveillance mechanisms have been described as being targeted for specific defective globin mRNAs. Here, we review mRNA stability mechanisms implicated in the control of beta-globin gene expression and the surveillance pathways that prevent translation of aberrant beta-globin mRNAs. In addition, we emphasize the importance of these pathways in modulating the severity of the beta-thalassemia phenotype.Ferrata Storti FoundationRepositório Científico do Instituto Nacional de SaúdePeixeiro, IsabelSilva, Ana LuísaRomão, Luísa2011-11-30T17:27:23Z2011-02-282011-02-28T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/333engHaematologica. 2011 Jun;96(6):905-13. Epub 2011 Feb 28.0390-6078info: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:RCAAP2023-07-20T15:38:08Zoai:repositorio.insa.pt:10400.18/333Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:35:33.128639Repositório 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 |
Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype |
title |
Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype |
spellingShingle |
Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype Peixeiro, Isabel mRNA quality control Nonsense-mediated mRNA decay mRNA stability Beta-globin Beta-thalassemia Clinical phenotype Doenças genéticas |
title_short |
Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype |
title_full |
Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype |
title_fullStr |
Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype |
title_full_unstemmed |
Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype |
title_sort |
Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype |
author |
Peixeiro, Isabel |
author_facet |
Peixeiro, Isabel Silva, Ana Luísa Romão, Luísa |
author_role |
author |
author2 |
Silva, Ana Luísa 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 |
Peixeiro, Isabel Silva, Ana Luísa Romão, Luísa |
dc.subject.por.fl_str_mv |
mRNA quality control Nonsense-mediated mRNA decay mRNA stability Beta-globin Beta-thalassemia Clinical phenotype Doenças genéticas |
topic |
mRNA quality control Nonsense-mediated mRNA decay mRNA stability Beta-globin Beta-thalassemia Clinical phenotype Doenças genéticas |
description |
Messenger RNA (mRNA) stability is a critical determinant that affects gene expression. Many pathways have evolved to modulate mRNA stability in response to developmental, physiological and/or environmental stimuli. Eukaryotic mRNAs have a considerable range of half-lives, from as short as a few minutes to as long as several days. Human globin mRNAs constitute an example of highly stable mRNAs. However, a wide variety of naturally occurring mutations that result in the clinical syndrome of thalassemia can trigger accelerated mRNA decay thus controlling mRNA quality prior to translation. Distinct surveillance mechanisms have been described as being targeted for specific defective globin mRNAs. Here, we review mRNA stability mechanisms implicated in the control of beta-globin gene expression and the surveillance pathways that prevent translation of aberrant beta-globin mRNAs. In addition, we emphasize the importance of these pathways in modulating the severity of the beta-thalassemia phenotype. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-11-30T17:27:23Z 2011-02-28 2011-02-28T00:00:00Z |
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/10400.18/333 |
url |
http://hdl.handle.net/10400.18/333 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Haematologica. 2011 Jun;96(6):905-13. Epub 2011 Feb 28. 0390-6078 |
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 |
Ferrata Storti Foundation |
publisher.none.fl_str_mv |
Ferrata Storti Foundation |
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 |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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