Dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis

Abstract Background Although numerous risk loci for ulcerative colitis (UC) have been identified in the human genome, the pathogenesis of UC remains unclear. Recently, multiple transcriptomic analyses have shown that aberrant gene expression in the colon tissues of UC patients is associated with dis...

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Autores principales:	Daowei Li, Yue Tan
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Ulcerative colitis Alternative splicing Posttranscriptional regulation RNA-Seq Medical technology R855-855.5
Acceso en línea:	https://doaj.org/article/d76820da87c84a2495a7ea106e9a812a
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spelling	oai:doaj.org-article:d76820da87c84a2495a7ea106e9a812a2021-11-28T12:13:26ZDysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis10.1186/s12938-021-00959-41475-925Xhttps://doaj.org/article/d76820da87c84a2495a7ea106e9a812a2021-11-01T00:00:00Zhttps://doi.org/10.1186/s12938-021-00959-4https://doaj.org/toc/1475-925XAbstract Background Although numerous risk loci for ulcerative colitis (UC) have been identified in the human genome, the pathogenesis of UC remains unclear. Recently, multiple transcriptomic analyses have shown that aberrant gene expression in the colon tissues of UC patients is associated with disease progression. A pioneering study also demonstrated that altered post-transcriptional regulation is involved in the progression of UC. Here, we provide a genome-wide analysis of alternative splicing (AS) signatures in UC patients. We analyzed three datasets containing 74 tissue samples from UC patients and identified over 2000 significant AS events. Results Skipped exon and alternative first exon were the two most significantly altered AS events in UC patients. The immune response-related pathways were remarkably enriched in the UC-related AS events. Genes with significant AS events were more likely to be dysregulated at the expression level. Conclusions We present a genomic landscape of AS events in UC patients based on a combined analysis of two cohorts. Our results indicate that dysregulation of AS may have a pivotal role in determining the pathogenesis of UC. In addition, our study uncovers genes with potential therapeutic implications for UC treatment.Daowei LiYue TanBMCarticleUlcerative colitisAlternative splicingPosttranscriptional regulationRNA-SeqMedical technologyR855-855.5ENBioMedical Engineering OnLine, Vol 20, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ulcerative colitis Alternative splicing Posttranscriptional regulation RNA-Seq Medical technology R855-855.5
spellingShingle	Ulcerative colitis Alternative splicing Posttranscriptional regulation RNA-Seq Medical technology R855-855.5 Daowei Li Yue Tan Dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis
description	Abstract Background Although numerous risk loci for ulcerative colitis (UC) have been identified in the human genome, the pathogenesis of UC remains unclear. Recently, multiple transcriptomic analyses have shown that aberrant gene expression in the colon tissues of UC patients is associated with disease progression. A pioneering study also demonstrated that altered post-transcriptional regulation is involved in the progression of UC. Here, we provide a genome-wide analysis of alternative splicing (AS) signatures in UC patients. We analyzed three datasets containing 74 tissue samples from UC patients and identified over 2000 significant AS events. Results Skipped exon and alternative first exon were the two most significantly altered AS events in UC patients. The immune response-related pathways were remarkably enriched in the UC-related AS events. Genes with significant AS events were more likely to be dysregulated at the expression level. Conclusions We present a genomic landscape of AS events in UC patients based on a combined analysis of two cohorts. Our results indicate that dysregulation of AS may have a pivotal role in determining the pathogenesis of UC. In addition, our study uncovers genes with potential therapeutic implications for UC treatment.
format	article
author	Daowei Li Yue Tan
author_facet	Daowei Li Yue Tan
author_sort	Daowei Li
title	Dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis
title_short	Dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis
title_full	Dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis
title_fullStr	Dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis
title_full_unstemmed	Dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis
title_sort	dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis
publisher	BMC
publishDate	2021
url	https://doaj.org/article/d76820da87c84a2495a7ea106e9a812a
work_keys_str_mv	AT daoweili dysregulationofalternativesplicingisassociatedwiththepathogenesisofulcerativecolitis AT yuetan dysregulationofalternativesplicingisassociatedwiththepathogenesisofulcerativecolitis
_version_	1718408168771420160

Dysregulation of alternative splicing is associated with the pathogenesis of ulcerative colitis

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