cDNA cloning and expression of rsca1, the rat counterpart of the human spinocerebellar ataxia type 1 gene.
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.
Gossen
M
M
Molecular Human Genetics, Ruhr-University, Bochum, Germany.
Schmitt
I
I
Obst
K
K
Wahle
P
P
Epplen
J T
JT
Riess
O
O
D000595:Amino Acid Sequence; D000818:Animals; D000067696:Ataxin-1; D000067528:Ataxins; D001483:Base Sequence; D015152:Blotting, Northern; D001921:Brain / Q000033:anatomy & histology / Q000254:growth & development; D001923:Brain Chemistry; D003001:Cloning, Molecular; D017124:Conserved Sequence; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D019143:Evolution, Molecular; D006801:Humans; D017403:In Situ Hybridization; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000096:biosynthesis* / Q000737:chemistry / Q000235:genetics*; D009687:Nuclear Proteins / Q000096:biosynthesis* / Q000737:chemistry / Q000235:genetics*; D051381:Rats; D011919:Rats, Inbred Strains; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
C000593749:ATXN1 protein, human; D000067696:Ataxin-1; D000067528:Ataxins; C000593751:Atxn1 protein, rat; D018076:DNA, Complementary; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins