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...

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Autores principales:	M. Brandon Titus, Adeline W. Chang, Eugenia C. Olesnicky
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	alternative splicing RNA localization splicing factors RNA binding proteins poison exons premature termination codon (PTC) Genetics QH426-470
Acceso en línea:	https://doaj.org/article/6f49338e461a4cc6a114569cd4a2f368
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spelling	oai:doaj.org-article:6f49338e461a4cc6a114569cd4a2f3682021-11-30T19:08:46ZExploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease1664-802110.3389/fgene.2021.775395https://doaj.org/article/6f49338e461a4cc6a114569cd4a2f3682021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.775395/fullhttps://doaj.org/toc/1664-8021Alternative 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.M. Brandon TitusAdeline W. ChangEugenia C. OlesnickyFrontiers Media S.A.articlealternative splicingRNA localizationsplicing factorsRNA binding proteinspoison exonspremature termination codon (PTC)GeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	alternative splicing RNA localization splicing factors RNA binding proteins poison exons premature termination codon (PTC) Genetics QH426-470
spellingShingle	alternative splicing RNA localization splicing factors RNA binding proteins poison exons premature termination codon (PTC) Genetics QH426-470 M. Brandon Titus Adeline W. Chang Eugenia C. Olesnicky Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease
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.
format	article
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
title	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_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_sort	exploring the diverse functional and regulatory consequences of alternative splicing in development and disease
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/6f49338e461a4cc6a114569cd4a2f368
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Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease

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