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Function of alternative splicing
Abstract
Almost all polymerase II transcripts undergo alternative pre-mRNA splicing. Here, we review the functions of alternative splicing events that have been experimentally determined. The overall function of alternative splicing is to increase the diversity of mRNAs expressed from the genome. Alternative splicing changes proteins encoded by mRNAs, which has profound functional effects. Experimental analysis of these protein isoforms showed that alternative splicing regulates binding between proteins, between proteins and nucleic acids as well as between proteins and membranes. Alternative splicing regulates the localization of proteins, their enzymatic properties and their interaction with ligands. In most cases, changes caused by individual splicing isoforms are small. However, cells typically coordinate numerous changes in 'splicing programs', which can have strong effects on cell proliferation, cell survival and properties of the nervous system. Due to its widespread usage and molecular versatility, alternative splicing emerges as a central element in gene regulation that interferes with almost every biological function analyzed.
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“RNA-seq can also distinguish between the expression of different splice variants [46, 47], which can have distinct interaction partners [48] and biological functions [49].”
From Gene co-expression analysis for functional classification and gene–disease predictions (2017) · cites this paper as [49]
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Metadata
- Authors
- Kelemen, O., Convertini, P., Zhang, Z., Wen, Y., Shen, M., Falaleeva, M., & Stamm, S.
- Affiliations
- University of Kentucky (US)
- Corresponding author
- Stamm, Stefan
- Venue
- Gene
- Publisher
- Elsevier BV
- Published
- 2013-02
- Volume
- 514
- Issue
- 1
- Pages
- 1-30
- ISSN
- 0378-1119 (ISSN-L)
- OpenAlex
- W3042475334
- Cited by
- 743
- References
- 559
- Citations by year
- 2026: 29 · 2025: 49 · 2024: 57 · 2023: 55 · 2022: 73 · 2021: 82 · 2020: 77 · 2019: 64 · 2018: 52 · 2017: 56 · 2016: 46 · 2015: 38 · 2014: 40 · 2013: 25
- FWCI
- 3.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Gene (publishedVersion)
- Funders
- National Institute of General Medical Sciences (R01GM083187)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA regulation and disease
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer-related molecular mechanisms research
- Keywords
- alternative splicing, protein isoforms, protein-protein interaction, protein-nucleic acid interactions, protein-membrane binding, protein localization, ligand binding, gene expression regulation, cell proliferation, cell survival, nervous system
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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