Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease
Alternative splicing is a fundamental mechanism of eukaryotic RNA regulation that increases the transcriptomic and proteomic complexity within an organism. Moreover, alternative splicing provides a framework for generating unique yet complex tissue- and cell type-specific gene expression profiles, d...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-11-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.775395/full |
| _version_ | 1818842187940495360 |
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| author | M. Brandon Titus Adeline W. Chang Eugenia C. Olesnicky |
| author_facet | M. Brandon Titus Adeline W. Chang Eugenia C. Olesnicky |
| author_sort | M. Brandon Titus |
| collection | DOAJ |
| description | Alternative splicing is a fundamental mechanism of eukaryotic RNA regulation that increases the transcriptomic and proteomic complexity within an organism. Moreover, alternative splicing provides a framework for generating unique yet complex tissue- and cell type-specific gene expression profiles, despite using a limited number of genes. Recent efforts to understand the negative consequences of aberrant splicing have increased our understanding of developmental and neurodegenerative diseases such as spinal muscular atrophy, frontotemporal dementia and Parkinsonism linked to chromosome 17, myotonic dystrophy, and amyotrophic lateral sclerosis. Moreover, these studies have led to the development of innovative therapeutic treatments for diseases caused by aberrant splicing, also known as spliceopathies. Despite this, a paucity of information exists on the physiological roles and specific functions of distinct transcript spliceforms for a given gene. Here, we will highlight work that has specifically explored the distinct functions of protein-coding spliceforms during development. Moreover, we will discuss the use of alternative splicing of noncoding exons to regulate the stability and localization of RNA transcripts. |
| first_indexed | 2024-12-19T04:38:00Z |
| format | Article |
| id | doaj.art-6f49338e461a4cc6a114569cd4a2f368 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-19T04:38:00Z |
| publishDate | 2021-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-6f49338e461a4cc6a114569cd4a2f3682022-12-21T20:35:42ZengFrontiers Media S.A.Frontiers in Genetics1664-80212021-11-011210.3389/fgene.2021.775395775395Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and DiseaseM. Brandon TitusAdeline W. ChangEugenia C. OlesnickyAlternative splicing is a fundamental mechanism of eukaryotic RNA regulation that increases the transcriptomic and proteomic complexity within an organism. Moreover, alternative splicing provides a framework for generating unique yet complex tissue- and cell type-specific gene expression profiles, despite using a limited number of genes. Recent efforts to understand the negative consequences of aberrant splicing have increased our understanding of developmental and neurodegenerative diseases such as spinal muscular atrophy, frontotemporal dementia and Parkinsonism linked to chromosome 17, myotonic dystrophy, and amyotrophic lateral sclerosis. Moreover, these studies have led to the development of innovative therapeutic treatments for diseases caused by aberrant splicing, also known as spliceopathies. Despite this, a paucity of information exists on the physiological roles and specific functions of distinct transcript spliceforms for a given gene. Here, we will highlight work that has specifically explored the distinct functions of protein-coding spliceforms during development. Moreover, we will discuss the use of alternative splicing of noncoding exons to regulate the stability and localization of RNA transcripts.https://www.frontiersin.org/articles/10.3389/fgene.2021.775395/fullalternative splicingRNA localizationsplicing factorsRNA binding proteinspoison exonspremature termination codon (PTC) |
| spellingShingle | M. Brandon Titus Adeline W. Chang Eugenia C. Olesnicky Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease Frontiers in Genetics alternative splicing RNA localization splicing factors RNA binding proteins poison exons premature termination codon (PTC) |
| title | Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease |
| title_full | Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease |
| title_fullStr | Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease |
| title_full_unstemmed | Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease |
| title_short | Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease |
| title_sort | exploring the diverse functional and regulatory consequences of alternative splicing in development and disease |
| topic | alternative splicing RNA localization splicing factors RNA binding proteins poison exons premature termination codon (PTC) |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2021.775395/full |
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