AUTHOR=Liao Calwing , Sarayloo Faezeh , Vuokila Veikko , Rochefort Daniel , Akçimen Fulya , Diamond Simone , Houle Gabrielle , Laporte Alexandre D. , Spiegelman Dan , He Qin , Catoire Hélène , Dion Patrick A. , Rouleau Guy A. 

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

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00813

DOI=10.3389/fgene.2020.00813

ISSN=1664-8021

ABSTRACT=<p><bold>Objective:</bold> 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. <italic>STK32B</italic> 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 <italic>STK32B</italic> in cerebellar DAOY cells.</p><p><bold>Methods:</bold> Here, we overexpressed <italic>STK32B</italic> 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.</p><p><bold>Results:</bold> Pathway and gene ontology enrichment identified axon guidance, olfactory signaling, and calcium-voltage channels as significant. Additionally, we show that overexpressing <italic>STK32B</italic> affects transcript levels of previously implicated ET genes such as <italic>FUS</italic>.</p><p><bold>Conclusion:</bold> Our results investigate the effects of overexpressed <italic>STK32B</italic> and suggest that it may be involved in relevant ET pathways and genes.</p>