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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.

Author information

1
Gene and Stem Cell Therapy Program, Centenary Institute, Royal Prince Alfred Hospital, Camperdown, Australia.
2
Sydney Medical School, University of Sydney, Camperdown, Australia.
3
Department of Bioinformatics, Centenary Institute, Royal Prince Alfred Hospital, Camperdown, Australia.
4
Cell and Molecular Therapies, Royal Prince Alfred Hospital, Camperdown, Australia.

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.

KEYWORDS:

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

PMID:
26612485
DOI:
10.1002/bies.201500117
[Indexed for MEDLINE]

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