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Accession IconGSE3248

Contribution of Nuclear and Extranuclear PolyQ to Neurological Phenotypes in Mouse Models of Huntingtons Disease

Organism Icon Mus musculus
Sample Icon 48 Downloadable Samples
Technology Badge Icon Affymetrix Murine Genome U74A Version 2 Array (mgu74av2)

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To dissect the impact of nuclear and extranuclear mutant htt on the initiation and progression of disease, we generated a series of transgenic mouse lines in which nuclear localization (NLS) or nuclear export sequences (NES) have been placed N-terminal to the htt exon 1 protein carrying 144 glutamines. Our data indicate that the exon 1 mutant protein is present in the nucleus as part of an oligomeric or aggregation complex. Increasing the concentration of the mutant transprotein in the nucleus is sufficient for, and dramatically accelerates the onset and progression of behavioral phenotypes. Furthermore, nuclear exon 1 mutant protein is sufficient to induce cytoplasmic neurodegeneration and transcriptional dysregulation. However, our data suggests that cytoplasmic mutant exon 1 htt, if present, contributes to disease progression.
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