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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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) |
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Alternative splicing Crohn’s disease Post-transcriptional regulation Diseases of the digestive system. Gastroenterology RC799-869 |
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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 |
_version_ |
1718429305236619264 |