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Spinocerebellar ataxia type 2 (SCA2) is a progressive autosomal dominant disorder caused by the expansion of a CAG tract in the  ATXN2  gene. The SCA2 disease phenotype is characterized by cerebellar atrophy, gait ataxia, and slow saccades.  ATXN2  mutation causes gains of toxic and normal functions of the  ATXN2  gene product, ataxin-2, and abnormally slow Purkinje cell firing frequency. Previously we investigated features of  ATXN2  controlling expression and noted expression differences for  ATXN2  constructs with varying CAG lengths, suggestive of repeat associated non-AUG translation (RAN translation). To determine whether RAN translation occurs for  ATXN2  we assembled various  ATXN2  constructs with  ATXN2  tagged by luciferase, HA or FLAG tags, driven by the  CMV  promoter or the  ATXN2  promoter. Luciferase expression from  ATXN2 -luciferase constructs lacking the  ATXN2  start codon was weak vs AUG translation, regardless of promoter type, and did not increase with longer CAG repeat lengths. RAN translation was detected on western blots by the anti-polyglutamine antibody 1C2 for constructs driven by the  CMV  promoter but not the  ATXN2  promoter, and was weaker than AUG translation. Strong RAN translation was also observed when driving the  ATXN2  sequence with the  CMV  promoter with  ATXN2  sequence downstream of the CAG repeat truncated to 18 bp in the polyglutamine frame but not in the polyserine or polyalanine frames. Our data demonstrate that  ATXN2  RAN translation is weak compared to AUG translation and is dependent on  ATXN2  sequences flanking the CAG repeat.

Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat