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Publication
Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype
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Advisor(s)
Abstract(s)
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.
Description
Keywords
mRNA quality control Nonsense-mediated mRNA decay mRNA stability Beta-globin Beta-thalassemia Clinical phenotype Doenças genéticas
Pedagogical Context
Citation
Haematologica. 2011 Jun;96(6):905-13. Epub 2011 Feb 28.