title: Intron retention in mRNA: No longer nonsense: Known and putative roles of intron retention in normal and disease biology.
abstract: Until recently, retention of introns in mature mRNAs has been regarded as a consequence of mis-splicing. Intron-retaining transcripts are thought to be non-functional because they are readily degraded by nonsense-mediated decay. However, recent advances in next-generation sequencing technologies have enabled the detection of numerous transcripts that retain introns. As we review herein, intron-retaining mRNAs play an essential conserved role in normal physiology and an emergent role in diverse diseases. Intron retention should no longer be overlooked as a key mechanism that independently reduces gene expression in normal biology. Exploring its contribution to the development and/or maintenance of diseases is of increasing importance.
authors.affiliation: Gene and Stem Cell Therapy Program, Centenary Institute, Royal Prince Alfred Hospital, Camperdown, Australia.|Sydney Medical School, University of Sydney, Camperdown, Australia.
authors.forename: Justin J-L
authors.initials: JJ
authors.lastname: Wong
authors.affiliation: Gene and Stem Cell Therapy Program, Centenary Institute, Royal Prince Alfred Hospital, Camperdown, Australia.|Sydney Medical School, University of Sydney, Camperdown, Australia.
authors.forename: Amy Y M
authors.initials: AY
authors.lastname: Au
authors.affiliation: Gene and Stem Cell Therapy Program, Centenary Institute, Royal Prince Alfred Hospital, Camperdown, Australia.|Sydney Medical School, University of Sydney, Camperdown, Australia.|Department of Bioinformatics, Centenary Institute, Royal Prince Alfred Hospital, Camperdown, Australia.
authors.forename: William
authors.initials: W
authors.lastname: Ritchie
authors.affiliation: Gene and Stem Cell Therapy Program, Centenary Institute, Royal Prince Alfred Hospital, Camperdown, Australia.|Sydney Medical School, University of Sydney, Camperdown, Australia.|Cell and Molecular Therapies, Royal Prince Alfred Hospital, Camperdown, Australia.
authors.forename: John E J
authors.initials: JE
authors.lastname: Rasko
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D007438:Introns / Q000235:genetics*; D035683:MicroRNAs / Q000235:genetics; D009369:Neoplasms / Q000235:genetics*; D059365:Nonsense Mediated mRNA Decay / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics*; D022661:RNA, Untranslated / Q000235:genetics
chemical_list: D035683:MicroRNAs; D012333:RNA, Messenger; D022661:RNA, Untranslated
keywords: alternative splicing; cancer; gene expression; intron retention; miRNAs; non-coding RNAs; nonsense-mediated decay