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Título: Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype
Autor: Peixeiro, Isabel
Silva, Ana Luísa
Romão, Luísa
Palavras-chave: mRNA quality control
Nonsense-mediated mRNA decay
mRNA stability
Clinical phenotype
Doenças genéticas
Issue Date: 28-Feb-2011
Editora: Ferrata Storti Foundation
Citação: Haematologica. 2011 Jun;96(6):905-13. Epub 2011 Feb 28.
Resumo: 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.
Arbitragem científica: yes
ISSN: 0390-6078
Versão do Editor:
Appears in Collections:DGH - Artigos em revistas internacionais

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