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Irwin, S, Vandelft, M, Pinchev, D, Howell, JL, Graczyk, J, Orr, HT and Truant, R (2005) RNA association and nucleocytoplasmic shuttling by ataxin-1. J. Cell. Sci. 118:233-42
Spinocerebellar ataxia type 1 (SCA1) is a dominant neurodegenerative disease caused by the expression of mutant ataxin-1 containing an expanded polyglutamine tract. Ataxin-1 is a nuclear protein that localizes to punctate inclusions similar to neuronal nuclear inclusions seen in many polyglutamine expansion disease proteins. We demonstrate that ataxin-1 localization to inclusions and inclusion dynamics within the nucleus are RNA and transcription dependent, but not dependent on the polyglutamine tract. Ataxin-1 nuclear inclusions are distinct from other described nuclear bodies but recruit the mRNA export factor, TAP/NXF1, in a manner that is enhanced by cell heat shock. By FRAP protein dynamic studies in live cells, we found that wild-type, but not mutant, ataxin-1 was capable of nuclear export. These results suggest that the normal role of ataxin-1 may be in RNA processing, perhaps nuclear RNA export. Thus, nuclear retention of mutant ataxin-1 may be an important toxic gain of function in SCA1 disease.
Animals; Biological Transport; Cell Nucleus/metabolism; Cytoplasm/metabolism; Fluorescence Recovery After Photobleaching; Fluorescent Antibody Technique, Indirect; Fluorescent Dyes; HeLa Cells; Humans; Image Processing, Computer-Assisted; Kinetics; Mice; Microscopy, Confocal; Mutation; NIH 3T3 Cells; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/metabolism; Nuclear Proteins/genetics; Nuclear Proteins/metabolism; Organic Chemicals; RNA/metabolism
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