Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1

RNA was isolated from mouse cerebellum at 6 weeks of age in 5 different gentoypes; wild-type (WT), Atxn1_154Q/2Q (SCA1), Atxn1_154Q[S776A]/2Q (SCA1 S776A), Atxn1_154Q[S776A]/2Q[S776A] (S776A Double) and Atxn1_2Q[S776A]/2Q[S776A] (homo). After RNA isolation, RNA-seq was performed and gene expression profiles were compared between WT, SCA1, and the S776A mutants. The goal was to determine if mutating the phosphorylation site S776 in the context of spinocerebellar ataxia type 1 (SCA1) is protective. Overall design: Cerebellar mRNA profiles of 6-week mice in wild-type (WT), Atxn1_154Q/2Q (SCA1), Atxn1_154Q[S776A]/2Q (SCA1 S776A), Atxn1_154Q[S776A]/2Q[S776A] (S776A Double) and Atxn1_2Q[S776A]/2Q[S776A] (homo).