Challenges in defining the role of intron retention in normal biology and disease

Vanichkina, Darya P., Schmitz, Ulf, Wong, Justin J.-L., and Rasko, John E.J. (2018) Challenges in defining the role of intron retention in normal biology and disease. Seminars in Cell and Developmental Biology, 75. pp. 40-49.

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Abstract

RNA sequencing has revealed a striking diversity in transcriptomic complexity, to which alternative splicing is a major contributor. Intron retention (IR) is a conserved form of alternative splicing that was originally overlooked in normal mammalian physiology and development, due mostly to difficulties in its detection. IR has recently been revealed as an independent mechanism of controlling and enhancing the complexity of gene expression. IR facilitates rapid responses to biological stimuli, is involved in disease pathogenesis, and can generate novel protein isoforms. Many challenges, however, remain in detecting and quantifying retained introns and in determining their effects on cellular phenotype. In this review, we provide an overview of these challenges, and highlight approaches that can be used to address them.

Item ID: 68980
Item Type: Article (Research - C1)
ISSN: 1096-3634
Copyright Information: Published Version. © 2017 Elsevier Ltd. Accepted Version may be made open access in an Institutional Repository after under a CC BY-NC-ND license after a 12 month embargo.
Date Deposited: 01 Dec 2021 03:44
FoR Codes: 31 BIOLOGICAL SCIENCES > 3102 Bioinformatics and computational biology > 310201 Bioinformatic methods development @ 80%
31 BIOLOGICAL SCIENCES > 3102 Bioinformatics and computational biology > 310208 Translational and applied bioinformatics @ 20%
SEO Codes: 28 EXPANDING KNOWLEDGE > 2801 Expanding knowledge > 280102 Expanding knowledge in the biological sciences @ 100%
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