Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor.

bioRxiv(2020)

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摘要
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.STK32Bwas 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 overexpressedSTK32Bin cerebellar DAOY cells. Methods:Here, we overexpressedSTK32BRNA 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 overexpressingSTK32Baffects transcript levels of previously implicated ET genes such asFUS. Conclusion:Our results investigate the effects of overexpressedSTK32Band suggest that it may be involved in relevant ET pathways and genes.
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关键词
STK32B,essential tremor,transcriptome,FUS,neurology
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