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Research Abstracts Online
January - December 2011

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University of Minnesota Twin Cities
Medical School
Department of Laboratory Medicine and Pathology

PI: Harry T. Orr

Alternative RNA Splicing in SCA1 Mice

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. These researchers hypothesize that interaction of RBM17 with the mutant ATX1 may cause changes in splicing, which in turn may contribute to onset of the disease. They 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.

Group Members

Paul Bergmann, Collaborator
Melissa Ingram, Graduate Student
Brennon O’Callaghan, Staff
Libing Wang, Mayo Clinic, Rochester, Minnesota