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Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by an expanded and unstable (CAG) &gt;40  repeat within a gene of unknown function. We isolated the complete coding region of the rat  SCA1  gene ( rsca1 ), the 5′-untranslated region (UTR) and 1.3 kb of the 3′-UTR. The rat sequence exhibits 90% peptide identity to the human counterpart. In comparison to human, the rat (CAG) n  block is reduced to two trinucleotide motifs preceded by three different proline codons not present in man. Furthermore, we investigated the expression of  rsca1  in different rat tissues. The  rsca1  gene is predominantly expressed in brain throughout all developmental stages.  In situ  hybridizations reveal high levels of expression in various regions of the adult rat brain, including cerebellum, hippocampus and cortex.

cDNA Cloning and Expression of rsca1 , the Rat Counterpart of the Human Spinocerebellar Ataxia Type 1 Gene