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Bioessays. 2016 Jan;38(1):41-9. doi: 10.1002/bies.201500117. Epub 2015 Nov 27.

Intron retention in mRNA: No longer nonsense: Known and putative roles of intron retention in normal and disease biology.

Wong JJ1,2, Au AY1,2, Ritchie W1,2,3, Rasko JE1,2,4.

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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.
Cell and Molecular Therapies, Royal Prince Alfred Hospital, Camperdown, Australia.


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.


alternative splicing; cancer; gene expression; intron retention; miRNAs; non-coding RNAs; nonsense-mediated decay

[Indexed for MEDLINE]

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