Nonsense-mediated mRNA decay in health and disease

PA Frischmeyer, HC Dietz - Human molecular genetics, 1999 - academic.oup.com
PA Frischmeyer, HC Dietz
Human molecular genetics, 1999academic.oup.com
All eukaryotes possess the ability to detect and degrade transcripts harboring premature
signals for the termination of translation. Despite the ubiquitous nature of nonsense-
mediated mRNA decay (NMD) and its demonstrated role in the modulation of phenotypes
resulting from selected nonsense alleles, very little is known regarding its basic mechanism
or the selective pressure for complete evolutionary conservation of this function. This review
will present the current models of NMD that have been generated during the study of model …
Abstract
All eukaryotes possess the ability to detect and degrade transcripts harboring premature signals for the termination of translation. Despite the ubiquitous nature of nonsense-mediated mRNA decay (NMD) and its demonstrated role in the modulation of phenotypes resulting from selected nonsense alleles, very little is known regarding its basic mechanism or the selective pressure for complete evolutionary conservation of this function. This review will present the current models of NMD that have been generated during the study of model organisms and mammalian cells. The physiological burden of nonsense transcripts and the emerging view that NMD plays a broad and critical role in the regulation of gene expression will also be discussed. Such issues are relevant to the proposal that pharmacological manipulation of NMD will find therapeutic application.
Oxford University Press