title: Widespread predicted nonsense-mediated mRNA decay of alternatively-spliced transcripts of human normal and disease genes.
abstract: 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.
authors.affiliation: Department of Plant and Microbial Biology, University of California, Berkeley, CA 94720, USA.
authors.forename: Richard E
authors.initials: RE
authors.lastname: Green
authors.forename: Benjamin P
authors.initials: BP
authors.lastname: Lewis
authors.forename: R Tyler
authors.initials: RT
authors.lastname: Hillman
authors.forename: Marco
authors.initials: M
authors.lastname: Blanchette
authors.forename: Liana F
authors.initials: LF
authors.lastname: Lareau
authors.forename: Aaron T
authors.initials: AT
authors.lastname: Garnett
authors.forename: Donald C
authors.initials: DC
authors.lastname: Rio
authors.forename: Steven E
authors.initials: SE
authors.lastname: Brenner
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D000544:Alzheimer Disease / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics*; D005786:Gene Expression Regulation / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008223:Lymphoma / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D020871:RNA Stability / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D022821:RNA Splice Sites; D012333:RNA, Messenger; D014157:Transcription Factors