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Research Abstracts Online
January 2009 - March 2010

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

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. Using exon microarray chips, they have examined the splicing patterns of cerebellar RNA from various mouse models of SCA1. They are using MSI resources such as the Ingenuity Pathway Analysis software to examine pathways that are affected due to alternative splicing between the SCA1 and WT mice. Additionally, they have collaborated with a Biomedical Informatics group at Mayo Clinic to develop computational models for deconvolution of the exon array data to analyze the different transcripts generated due to alternative splicing.

Group Members

Smita Agrawal, Research Associate
Libing Wang, Mayo Clinic, Rochester, Minnesota