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Human Molecular Genetics, Vol 5, 381-389, Copyright © 1996 by Oxford University Press

ARTICLES

cDNA cloning and expression of rsca1, the rat counterpart of the human spinocerebellar ataxia type 1 gene

M Gossen, I Schmitt, K Obst, P Wahle, JT Epplen and O Riess
Molecular Human Genetics, Ruhr-University, Bochum, Germany.

Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by an expanded and unstable (CAG) > 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.
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