Polyglutamine expansion of huntingtin impairs its nuclear export
doi: 10.1038/ng1503
pmid: 15654337
Polyglutamine expansion of huntingtin impairs its nuclear export
Proteins with polyglutamine (polyQ) expansions accumulate in the nucleus and affect gene expression. The mechanism by which mutant huntingtin (htt) accumulates intranuclearly is not known; wild-type htt, a 350-kDa protein of unknown function, is normally found in the cytoplasm. N-terminal fragments of mutant htt, which contain a polyQ expansion (>37 glutamines), have no conserved nuclear localization sequences or nuclear export sequences but can accumulate in the nucleus and cause neurological problems in transgenic mice. Here we report that N-terminal htt shuttles between the cytoplasm and nucleus in a Ran GTPase-independent manner. Small N-terminal htt fragments interact with the nuclear pore protein translocated promoter region (Tpr), which is involved in nuclear export. PolyQ expansion and aggregation decrease this interaction and increase the nuclear accumulation of htt. Reducing the expression of Tpr by RNA interference or deletion of ten amino acids of N-terminal htt, which are essential for the interaction of htt with Tpr, increased the nuclear accumulation of htt. These results suggest that Tpr has a role in the nuclear export of N-terminal htt and that polyQ expansion reduces this nuclear export to cause the nuclear accumulation of htt.
- Johns Hopkins Medicine United States
- Johns Hopkins University School of Medicine United States
- Kings College London, University of London United Kingdom
- Guy's Hospital United Kingdom
- Guy's and St Thomas' NHS Foundation Trust United Kingdom
Cell Nucleus, 570, Molecular Sequence Data, Transfection, Nuclear Pore Complex Proteins, Huntington Disease, Proto-Oncogene Proteins, Mutation, Humans, Amino Acid Sequence, Peptides, Promoter Regions, Genetic, Cells, Cultured
Cell Nucleus, 570, Molecular Sequence Data, Transfection, Nuclear Pore Complex Proteins, Huntington Disease, Proto-Oncogene Proteins, Mutation, Humans, Amino Acid Sequence, Peptides, Promoter Regions, Genetic, Cells, Cultured
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