Widespread predicted nonsense-mediated mRNA decay of alternatively-spliced transcripts of human normal and disease genes

We have recently shown that a third of reliably-inferred alternative mRNA isoforms are candidates for nonsense-mediated mRNA decay (NMD), an mRNA surveillance system (Lewis et al., 2003; PROC: Natl Acad. Sci. USA, 100, 189-192). Rather than being translated to yield protein, these transcripts are ex...

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Bibliographic Details
Published in:Bioinformatics 2003, Vol.19 Suppl 1 (suppl_1), p.i118-i121
Main Authors: Green, Richard E, Lewis, Benjamin P, Hillman, R Tyler, Blanchette, Marco, Lareau, Liana F, Garnett, Aaron T, Rio, Donald C, Brenner, Steven E
Format: Article
Language:English
Subjects:
Alternative Splicing - genetics
Alzheimer Disease - genetics
Codon, Nonsense - genetics
Gene Expression Regulation - genetics
Genetic Predisposition to Disease - genetics
Genetic Testing - methods
Humans
Lymphoma - genetics
RNA Splice Sites - genetics
RNA Stability - genetics
RNA, Messenger - genetics
Transcription Factors - genetics
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Summary:We have recently shown that a third of reliably-inferred alternative mRNA isoforms are candidates for nonsense-mediated mRNA decay (NMD), an mRNA surveillance system (Lewis et al., 2003; PROC: Natl Acad. Sci. USA, 100, 189-192). Rather than being translated to yield protein, these transcripts are expected to be degraded and may be subject to regulated unproductive splicing and translation (RUST). Our initial experimental studies are consistent with these predictions and suggest an unappreciated role for NMD in several human diseases.
ISSN:1367-4803
1367-4811
1460-2059
DOI:10.1093/bioinformatics/btg1015