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

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

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Item Type: Article
Official URL:
Journal or Publication Title: Seminars in Cell & Developmental Biology
Volume: 75
Page Range: pp. 40-49
Date: 2018
Divisions: Epigenetics and RNA Biology
Gene and Stem Cell Therapy
Depositing User: General Admin
Identification Number: 10.1016/j.semcdb.2017.07.030
ISSN: 10849521
Date Deposited: 04 Jan 2021 04:34

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.

Vanichkina, Darya P.
Schmitz, Ulf
Wong, Justin J.-L.
Rasko, John E.J.
Last Modified: 04 Jan 2021 04:34

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