SUMO modification of Huntingtin and Huntington's disease pathology

Science. 2004 Apr 2;304(5667):100-4. doi: 10.1126/science.1092194.

Abstract

Huntington's disease (HD) is characterized by the accumulation of a pathogenic protein, Huntingtin (Htt), that contains an abnormal polyglutamine expansion. Here, we report that a pathogenic fragment of Htt (Httex1p) can be modified either by small ubiquitin-like modifier (SUMO)-1 or by ubiquitin on identical lysine residues. In cultured cells, SUMOylation stabilizes Httex1p, reduces its ability to form aggregates, and promotes its capacity to repress transcription. In a Drosophila model of HD, SUMOylation of Httex1p exacerbates neurodegeneration, whereas ubiquitination of Httex1p abrogates neurodegeneration. Lysine mutations that prevent both SUMOylation and ubiquitination of Httex1p reduce HD pathology, indicating that the contribution of SUMOylation to HD pathology extends beyond preventing Htt ubiquitination and degradation.

Publication types

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

MeSH terms

  • Animals
  • Animals, Genetically Modified
  • Cell Line
  • Cell Nucleus / metabolism
  • Corpus Striatum / cytology
  • Cytoplasm / metabolism
  • Drosophila
  • Genes, MDR
  • HeLa Cells
  • Humans
  • Huntingtin Protein
  • Huntington Disease / metabolism
  • Huntington Disease / pathology*
  • Lysine / genetics
  • Lysine / metabolism
  • Mutation
  • Nerve Degeneration
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Neurons / metabolism
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Proline / genetics
  • Proline / metabolism
  • Promoter Regions, Genetic
  • Rats
  • Recombinant Fusion Proteins / metabolism
  • SUMO-1 Protein / genetics
  • SUMO-1 Protein / metabolism*
  • Transcription, Genetic
  • Transfection
  • Ubiquitin / metabolism

Substances

  • HTT protein, human
  • Htt protein, rat
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Recombinant Fusion Proteins
  • SUMO-1 Protein
  • Ubiquitin
  • Proline
  • Lysine