The changing paradigm of intron retention: regulation, ramifications and recipes

Monteuuis, Geoffray, Wong, Justin J.L., Bailey, Charles G., Schmitz, Ulf, and Rasko, John E.J. (2019) The changing paradigm of intron retention: regulation, ramifications and recipes. Nucleic Acids Research, 47 (22). pp. 11497-11513.

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Intron retention (IR) is a form of alternative splicing that has long been neglected in mammalian systems although it has been studied for decades in non-mammalian species such as plants, fungi, insects and viruses. It was generally assumed that mis-splicing, leading to the retention of introns, would have no physiological consequence other than reducing gene expression by nonsense-mediated decay. Relatively recent landmark discoveries have highlighted the pivotal role that IR serves in normal and disease-related human biology. Significant technical hurdles have been overcome, thereby enabling the robust detection and quantification of IR. Still, relatively little is known about the cis- and trans-acting modulators controlling this phenomenon. The fate of an intron to be, or not to be, retained in the mature transcript is the direct result of the influence exerted by numerous intrinsic and extrinsic factors at multiple levels of regulation. These factors have altered current biological paradigms and provided unexpected insights into the transcriptional landscape. In this review, we discuss the regulators of IR and methods to identify them. Our focus is primarily on mammals, however, we broaden the scope to non-mammalian organisms in which IR has been shown to be biologically relevant.

Item ID: 68976
Item Type: Article (Research - C1)
ISSN: 1362-4962
Copyright Information: © The Author(s) 2019. Published by Oxford University Press on behalf of Nucleic Acids Research. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (, which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
Funders: National Health and Medical Research Council of Australia (NHMRC)
Projects and Grants: NHMRC 1080530, NHMRC 1061906, NHMRC 1128175, NHMRC 1129901, NHMRC 126306
Date Deposited: 25 Aug 2021 00:13
FoR Codes: 31 BIOLOGICAL SCIENCES > 3102 Bioinformatics and computational biology > 310201 Bioinformatic methods development @ 30%
31 BIOLOGICAL SCIENCES > 3105 Genetics > 310509 Genomics @ 70%
SEO Codes: 28 EXPANDING KNOWLEDGE > 2801 Expanding knowledge > 280102 Expanding knowledge in the biological sciences @ 100%
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