Transcriptomic changes resulting from STK32B overexpression identifies pathways potentially relevant to essential tremor
| Autor: | Fulya Akçimen, Daniel Rochefort, Qin He, Faezeh Sarayloo, Alexandre D. Laporte, Patrick A. Dion, Hélène Catoire, Guy A. Rouleau, Dan Spiegelman, Simone Diamond, Calwing Liao |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0303 health sciences
Essential tremor Gene ontology Genome-wide association study Biology medicine.disease Cell biology Transcriptome 03 medical and health sciences 0302 clinical medicine Differentially expressed genes medicine Axon guidance Gene 030217 neurology & neurosurgery 030304 developmental biology |
| DOI: | 10.1101/552901 |
| Popis: | 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 GWAS study and was found to be overexpressed in ET cerebellar tissue. Here, we overexpressedSTK32Bin human cerebellar DAOY cells and used an RNA-Seq approach to identify differentially expressed genes by comparing the transcriptome profile of these cells to the one of control DAOY cells. Pathway and gene ontology enrichment identified axon guidance, olfactory signalling and calcium-voltage channels as significant. Additionally, we show that overexpressingSTK32Baffects transcript levels of previously implicated ET genes such asFUS. Our results investigate the effects of overexpressedSTK32Band suggest that it may be involved in relevant ET pathways and genes. |
| Databáze: | OpenAIRE |
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