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Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor.
Frontiers in Genetics ( IF 3.7 ) Pub Date : 2020-07-06 , DOI: 10.3389/fgene.2020.00813
Calwing Liao 1, 2 , Faezeh Sarayloo 1, 2 , Veikko Vuokila 2 , Daniel Rochefort 2 , Fulya Akçimen 1, 2 , Simone Diamond 2 , Gabrielle Houle 1, 2 , Alexandre D Laporte 2 , Dan Spiegelman 2 , Qin He 3 , Hélène Catoire 2 , Patrick A Dion 2, 4 , Guy A Rouleau 1, 2, 4
Affiliation  

Objective: Essential tremor (ET) is a common movement disorder that has a high heritability. A number of genetic studies have associated different genes and loci with ET, but few have investigated the biology of any of these genes. STK32B was significantly associated with ET in a large genome-wide association study (GWAS) and was found to be overexpressed in ET cerebellar tissue. The objective of this study is to determine the effects of overexpressed STK32B in cerebellar DAOY cells.

Methods: Here, we overexpressed STK32B RNA in human cerebellar DAOY cells and used an RNA-Seq approach to identify differentially expressed genes (DEGs) by comparing the transcriptome profile of these cells to one of the control DAOY cells.

Results: Pathway and gene ontology enrichment identified axon guidance, olfactory signaling, and calcium-voltage channels as significant. Additionally, we show that overexpressing STK32B affects transcript levels of previously implicated ET genes such as FUS.

Conclusion: Our results investigate the effects of overexpressed STK32B and suggest that it may be involved in relevant ET pathways and genes.



中文翻译:

由STK32B过表达引起的转录组学变化确定了与原发性震颤可能相关的途径。

目的:原发性震颤(ET)是一种遗传力很高的常见运动障碍。许多遗传学研究将不同的基因和基因座与ET相关联,但很少研究任何这些基因的生物学特性。STK32B在大型全基因组关联研究(GWAS)中与ET显着相关,并且发现在ET小脑组织中过表达。这项研究的目的是确定过度表达的影响STK32B 在小脑DAOY细胞中

方法: 在这里,我们过分表达 STK32B 人类小脑DAOY细胞中的RNA,并使用RNA-Seq方法通过将这些细胞的转录组图谱与对照DAOY细胞之一进行比较来鉴定差异表达的基因(DEG)。

结果:途径和基因本体论的丰富确定轴突指导,嗅觉信号和钙电压通道是重要的。此外,我们证明了过度表达STK32B 影响先前涉及的ET基因的转录水平,例如 FUS

结论: 我们的结果调查了过表达的影响 STK32B 并暗示它可能参与了相关的ET途径和基因。

更新日期:2020-07-31
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