期刊
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
卷 75, 期 -, 页码 40-49出版社
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.semcdb.2017.07.030
关键词
Alternative splicing; RNA sequencing; Bioinformatics; Gene expression; Epigenetics; Phylogeny
资金
- National Health and Medical Research Council [1129901, 1080530, 1128175, 1126306, 1061906]
- Cure the Future Foundation
- Sydney Research Excellence Initiative
- National Health and Medical Research Council of Australia [1061906, 1129901, 1128175, 1126306, 1080530] Funding Source: NHMRC
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. (c) 2017 Published by Elsevier Ltd.
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