Nonsense-mediated mRNA decay in health and disease

Pamela A. Frischmeyer, Harry C. Dietz

Research output: Contribution to journalReview articlepeer-review

806 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1893-1900
Number of pages8
JournalHuman molecular genetics
Issue number10
StatePublished - 1999

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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