SCA1 Next-Generation Sequencing


SCA-1 Next-Generation Sequencing

Spinocerebellar ataxia type 1 (SCA1) is caused by expansion of a translated CAG repeat that encodes a polyglutamine tract in Ataxin-1. Previous studies demonstrate that a gain-of-function mechanism underlies this disease and the glutamine expansion causes disease only when the protein can be translocated into the nucleus and the serine at position 776 is phosphorylated. Recent studies suggest that the gain-of-function mechanism involves enhanced interactions of ATXN1 with RBM17, a regulator of RNA splicing. Identification of these changes may be critical for understanding the SCA-1 disease. The researchers are sequencing the RNA transcriptome of healthy and disease model mice. MSI resources are used for data storage and analysis. Galaxy is a vital interface for analysis as well as workflow automation. Software used through Galaxy includes Bowtie, TopHat, Cufflinks, and pre-analysis data clean-up software. Results are further processed via pathway analysis software. MacVector and Sequencher will be used to design qPCR targets found in the RNASeq data. 

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