Neural Degenerative Disease Caused Spinal Cerabellar Ataxia 1
Spinocerebellar Ataxia type 1 (SCA-1) is caused by a CAG repeat that encodes a polyglutamine tract in Ataxin-1. Previous studies demonstrate 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 Ataxin-1 gain-of-function involves interactions with RBM17, a regulator of RNA splicing. These researchers hypothesize that increased interaction of RBM17 with the mutant Atxn1 may cause changes in RNA splicing. Identification of these changes may be critical for understanding the SCA-1 disease. Using University of Minnesota Genomics Center resources, they will sequence the RNA transcriptome of healthy and disease model mice. MSI resources will be used for data storage and analysis. Galaxy will be a vital interface for analysis as well as work flow automation, since there are multiple users. Software used through Galaxy includes Bowtie, TopHat, Cufflinks, and pre-analysis data clean up software. Results will be further processed via pathway analysis software. MacVector and Sequencher are used to design qPCR targets found in the RNASeq data, and the researchers work with RIS staff for bioinformatics analysis and support.
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