Nucleocytoplasmic transport signals affect the age at onset of abnormalities in knock-in mice expressing polyglutamine within an ectopic protein context

Hum Mol Genet. 2003 Jul 1;12(13):1621-9. doi: 10.1093/hmg/ddg163.

Abstract

In order to better understand the role of nuclear localization of polyglutamine in the human CAG repeat disorders, gene targeting was used to add either nuclear localization (NLS) or nuclear export (NES) signals to versions of the mouse Hprt protein containing expanded polyglutamine (HprtQ150). The NLS increased levels of nuclear HprtQ150 protein in the mouse brain and hastened both the presentation of neuronal intranuclear inclusions (NIIs) and the onset of behavioral abnormalities. The NES reduced levels of nuclear HprtQ150 protein in mouse brain and delayed both the presentation of NIIs and the onset of behavioral abnormalities. Together these results indicate the nucleus is the primary site of toxicity in HprtQ150 mice. Furthermore, the signals did not alter the relative regional distribution of NIIs, suggesting that factors other than nuclear access dictate the regional specificity of NII formation in this mouse model.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Active Transport, Cell Nucleus
  • Age of Onset
  • Aging
  • Animals
  • Behavior, Animal
  • Biological Transport
  • Brain / pathology
  • Cell Line
  • Cell Nucleus / metabolism*
  • Cytoplasm / metabolism*
  • Mice
  • Mice, Transgenic
  • Models, Genetic
  • Neurons / metabolism
  • Neurons / pathology
  • Peptides / genetics*
  • Time Factors

Substances

  • Peptides
  • polyglutamine