Identification of NUB1 as a suppressor of mutant Huntington toxicity via enhanced protein clearance

Nat Neurosci. 2013 May;16(5):562-70. doi: 10.1038/nn.3367. Epub 2013 Mar 24.

Abstract

Huntington's disease is caused by expanded CAG repeats in HTT, conferring toxic gain of function on mutant HTT (mHTT) protein. Reducing mHTT amounts is postulated as a strategy for therapeutic intervention. We conducted genome-wide RNA interference screens for genes modifying mHTT abundance and identified 13 hits. We tested 10 in vivo in a Drosophila melanogaster Huntington's disease model, and 6 exhibited activity consistent with the in vitro screening results. Among these, negative regulator of ubiquitin-like protein 1 (NUB1) overexpression lowered mHTT in neuronal models and rescued mHTT-induced death. NUB1 reduces mHTT amounts by enhancing polyubiquitination and proteasomal degradation of mHTT protein. The process requires CUL3 and the ubiquitin-like protein NEDD8 necessary for CUL3 activation. As a potential approach to modulating NUB1 for treatment, interferon-β lowered mHTT and rescued neuronal toxicity through induction of NUB1. Thus, we have identified genes modifying endogenous mHTT using high-throughput screening and demonstrate NUB1 as an exemplar entry point for therapeutic intervention of Huntington's disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adenosine Triphosphate / metabolism
  • Animals
  • Cell Line
  • Cells, Cultured
  • Cullin Proteins / metabolism
  • Disease Models, Animal
  • Drosophila / drug effects
  • Drosophila / metabolism
  • Embryo, Mammalian
  • Female
  • Gene Expression
  • Genome-Wide Association Study
  • Humans
  • Huntingtin Protein
  • Huntington Disease / pathology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Mutation / genetics*
  • NEDD8 Protein
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Nerve Tissue Proteins / toxicity
  • Neurons / drug effects
  • Neurons / metabolism*
  • Pregnancy
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*
  • Ubiquitins / metabolism

Substances

  • Adaptor Proteins, Signal Transducing
  • CUL3 protein, human
  • Cullin Proteins
  • FAT10 protein, mouse
  • HTT protein, human
  • Huntingtin Protein
  • NEDD8 Protein
  • NUB1 protein, human
  • Nedd8 protein, mouse
  • Nerve Tissue Proteins
  • Transcription Factors
  • Ubiquitins
  • Adenosine Triphosphate