PMID: 8965642Mar 1, 1996Paper

DRPLA gene (atrophin-1) sequence and mRNA expression in human brain

Brain Research. Molecular Brain Research
R L MargolisC A Ross

Abstract

Dentatorubral pallidoluysian atrophy (DRPLA, Smith's disease) is one of five disorders currently known to result from expansion of a CAG trinucleotide repeat encoding glutamine. The reported full length cDNA sequence encodes a serine repeat and a region of alternating acidic and basic amino acids, as well as the glutamine repeat. We now report the nucleic acid and deduced amino acid sequences of the open reading frame of this gene, obtained from a series of independently isolated and sequenced cDNA clones. Eight nucleotide differences from the originally published sequence result in a change of 34 amino acids, most prominently in the region of alternating acidic and basic residues. Northern analysis and in situ hybridization indicate that atrophin-1 mRNA is expressed in multiple brain regions. The level of mRNA expression as determined by in situ hybridization in a DRPLA-diseased brain is indistinguishable from the level observed in a matched control brain. These results indicate that the correlation between atrophin-1 expression and regions of pathology in DRPLA is at best partial, and that the expanded allele does not cause a major loss of mRNA expression. The pathology of the disorder may therefore arise from the altered str...Continue Reading

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Citations

Jul 1, 1997·Movement Disorders : Official Journal of the Movement Disorder Society·M W BecherC A Ross
Jun 1, 1997·Current Opinion in Cell Biology·P S Reddy, D E Housman
Aug 6, 1999·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·I Kanazawa
Jul 1, 1997·Brain Pathology·E N BurrightH B Clark
Mar 24, 2009·Biochimica Et Biophysica Acta·Masaki TakahashiKeiichi Kawano
Jul 2, 1998·Molecular and Cellular Neurosciences·J D WoodC A Ross
Dec 1, 2017·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·April L Darling, Vladimir N Uversky
Mar 20, 1999·The Journal of Biological Chemistry·L M EllerbyD E Bredesen

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