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

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


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alternative Splicing / genetics*
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Introns / genetics*
  • MicroRNAs / genetics
  • Neoplasms / genetics*
  • Nonsense Mediated mRNA Decay / genetics
  • RNA, Messenger / genetics*
  • RNA, Untranslated / genetics


  • MicroRNAs
  • RNA, Messenger
  • RNA, Untranslated