An alternative splicing signature in human Crohn’s disease

Abstract Background Although hundreds of risk loci for Crohn’s disease (CD) have been identified, the underlying pathogenesis of CD remains unclear. Recently, evidence has shown that aberrant gene expression in colon tissues of CD patients is associated with the progression of CD. We reasoned that p...

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Autores principales: Daowei Li, Yuanzi Liang, Jia Lu, Yue Tan
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Lenguaje:EN
Publicado: BMC 2021
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Acceso en línea:https://doaj.org/article/a2295c8c85524addb96832029b7c4ff7
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spelling oai:doaj.org-article:a2295c8c85524addb96832029b7c4ff72021-11-14T12:16:55ZAn alternative splicing signature in human Crohn’s disease10.1186/s12876-021-02001-21471-230Xhttps://doaj.org/article/a2295c8c85524addb96832029b7c4ff72021-11-01T00:00:00Zhttps://doi.org/10.1186/s12876-021-02001-2https://doaj.org/toc/1471-230XAbstract Background Although hundreds of risk loci for Crohn’s disease (CD) have been identified, the underlying pathogenesis of CD remains unclear. Recently, evidence has shown that aberrant gene expression in colon tissues of CD patients is associated with the progression of CD. We reasoned that post-transcriptional regulation, especially alternative splicing (AS), may also play important roles in the pathogenesis of CD. Methods We re-analyzed public mRNA-seq data from the NCBI GEO dataset (GSE66207) and identified approximately 3000 unique AS events in CD patients compared to healthy controls. Results “Lysine degradation” and “Sphingolipid metabolism” were the two most enriched AS events in CD patients. In a validation study, we also sequenced eight subjects and demonstrated that key genes that were previously linked to CD, such as IRF1 and STAT3, also had significant AS events in CD. Conclusion Our study provided a landscape of AS events in CD, especially as the first study focused on a Chinese cohort. Our data suggest that dysregulation of AS may be a new mechanism that contributes to the pathogenesis of CD.Daowei LiYuanzi LiangJia LuYue TanBMCarticleAlternative splicingCrohn’s diseasePost-transcriptional regulationDiseases of the digestive system. GastroenterologyRC799-869ENBMC Gastroenterology, Vol 21, Iss 1, Pp 1-12 (2021)
institution DOAJ
collection DOAJ
language EN
topic Alternative splicing
Crohn’s disease
Post-transcriptional regulation
Diseases of the digestive system. Gastroenterology
RC799-869
spellingShingle Alternative splicing
Crohn’s disease
Post-transcriptional regulation
Diseases of the digestive system. Gastroenterology
RC799-869
Daowei Li
Yuanzi Liang
Jia Lu
Yue Tan
An alternative splicing signature in human Crohn’s disease
description Abstract Background Although hundreds of risk loci for Crohn’s disease (CD) have been identified, the underlying pathogenesis of CD remains unclear. Recently, evidence has shown that aberrant gene expression in colon tissues of CD patients is associated with the progression of CD. We reasoned that post-transcriptional regulation, especially alternative splicing (AS), may also play important roles in the pathogenesis of CD. Methods We re-analyzed public mRNA-seq data from the NCBI GEO dataset (GSE66207) and identified approximately 3000 unique AS events in CD patients compared to healthy controls. Results “Lysine degradation” and “Sphingolipid metabolism” were the two most enriched AS events in CD patients. In a validation study, we also sequenced eight subjects and demonstrated that key genes that were previously linked to CD, such as IRF1 and STAT3, also had significant AS events in CD. Conclusion Our study provided a landscape of AS events in CD, especially as the first study focused on a Chinese cohort. Our data suggest that dysregulation of AS may be a new mechanism that contributes to the pathogenesis of CD.
format article
author Daowei Li
Yuanzi Liang
Jia Lu
Yue Tan
author_facet Daowei Li
Yuanzi Liang
Jia Lu
Yue Tan
author_sort Daowei Li
title An alternative splicing signature in human Crohn’s disease
title_short An alternative splicing signature in human Crohn’s disease
title_full An alternative splicing signature in human Crohn’s disease
title_fullStr An alternative splicing signature in human Crohn’s disease
title_full_unstemmed An alternative splicing signature in human Crohn’s disease
title_sort alternative splicing signature in human crohn’s disease
publisher BMC
publishDate 2021
url https://doaj.org/article/a2295c8c85524addb96832029b7c4ff7
work_keys_str_mv AT daoweili analternativesplicingsignatureinhumancrohnsdisease
AT yuanziliang analternativesplicingsignatureinhumancrohnsdisease
AT jialu analternativesplicingsignatureinhumancrohnsdisease
AT yuetan analternativesplicingsignatureinhumancrohnsdisease
AT daoweili alternativesplicingsignatureinhumancrohnsdisease
AT yuanziliang alternativesplicingsignatureinhumancrohnsdisease
AT jialu alternativesplicingsignatureinhumancrohnsdisease
AT yuetan alternativesplicingsignatureinhumancrohnsdisease
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