The role of protein composition in specifying nuclear inclusion formation in polyglutamine disease

J Biol Chem. 2001 Nov 30;276(48):44889-97. doi: 10.1074/jbc.M106575200. Epub 2001 Sep 25.

Abstract

Intracellular inclusions are a unifying feature of polyglutamine (polyQ) neurodegenerative diseases, yet each polyQ disease displays a unique pattern of neuronal degeneration. This implies that the protein context of expanded polyQ plays an important role in establishing selective neurotoxicity. Here, in studies of the spinocerebellar ataxia type 3 disease protein ataxin-3, we demonstrate that the protein sequence surrounding polyQ specifies the constituents of nuclear inclusions (NI) formed by the disease protein. The nuclear proteins cAMP response element-binding protein-binding protein (CBP) and Mastermind-like-1 strongly colocalize only to NI formed by full-length ataxin-3, whereas the splicing factor SC35 colocalizes only to NI formed by a polyQ-containing, carboxyl-terminal fragment of ataxin-3. These differences in NI formation reflect specific protein interactions normally undertaken by ataxin-3, as both normal and mutant full-length ataxin-3 co-immunoprecipitate with CBP and sediment on density gradients as macromolecular complexes. Moreover, normal ataxin-3 represses cAMP response element-binding protein-mediated transcription, indicating a functional consequence of ataxin-3 interactions with CBP. Finally, we show that mutant ataxin-3 forms insoluble intranuclear complexes, or microaggregates, before NI can be detected, implying a precursor-product relationship. These results suggest that protein context-dependent recruitment of nuclear proteins to intranuclear microaggregates, and subsequently to NI, may contribute to selective neurotoxicity in polyQ diseases.

Publication types

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

MeSH terms

  • Ataxin-3
  • Cell Nucleus / metabolism*
  • HeLa Cells
  • Humans
  • Immunohistochemistry
  • Microscopy, Confocal
  • Microscopy, Fluorescence
  • Mutation
  • Nerve Tissue Proteins / metabolism
  • Neurodegenerative Diseases / metabolism*
  • Nuclear Proteins / metabolism
  • Peptides / genetics*
  • Peptides / metabolism*
  • Plasmids / metabolism
  • Precipitin Tests
  • Protein Binding
  • Protein Structure, Tertiary
  • Repressor Proteins
  • Subcellular Fractions
  • Trans-Activators / metabolism
  • Transfection

Substances

  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Peptides
  • Repressor Proteins
  • Trans-Activators
  • polyglutamine
  • ATXN3 protein, human
  • Ataxin-3