The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila

Curr Biol. 2004 Feb 17;14(4):302-8. doi: 10.1016/j.cub.2004.01.034.

Abstract

Spinocerebellar Ataxia 8 (SCA8) appears unique among triplet repeat expansion-induced neurodegenerative diseases because the predicted gene product is a noncoding RNA. Little is currently known about the normal function of SCA8 in neuronal survival or how repeat expansion contributes to neurodegeneration. To investigate the molecular context in which SCA8 operates, we have expressed the human SCA8 noncoding RNA in Drosophila. SCA8 induces late-onset, progressive neurodegeneration in the Drosophila retina. Using this neurodegenerative phenotype as a sensitized background for a genetic modifier screen, we have identified mutations in four genes: staufen, muscle-blind, split ends, and CG3249. All four encode neuronally expressed RNA binding proteins conserved in Drosophila and humans. Although expression of both wild-type and repeat-expanded SCA8 induce neurodegeneration, the strength of interaction with certain modifiers differs between the two SCA8 backgrounds, suggesting that CUG expansions alter associations with specific RNA binding proteins. Our demonstration that SCA8 can recruit Staufen and that the interaction domain maps to the portion of the SCA8 RNA that undergoes repeat expansion in the human disease suggests a specific mechanism for SCA8 function and disease. Genetic modifiers identified in our SCA8-based screens may provide candidates for designing therapeutic interventions to treat this disease.

Publication types

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

MeSH terms

  • Animals
  • DNA Mutational Analysis
  • Disease Models, Animal*
  • Drosophila / genetics*
  • Drosophila Proteins / metabolism*
  • Gene Expression
  • Microscopy, Electron, Scanning
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Photoreceptor Cells, Invertebrate / metabolism
  • Photoreceptor Cells, Invertebrate / ultrastructure
  • RNA, Long Noncoding
  • RNA, Untranslated / genetics*
  • RNA-Binding Proteins / metabolism*
  • Repetitive Sequences, Nucleic Acid / genetics
  • Spinocerebellar Ataxias / genetics*

Substances

  • ATXN8OS gene product, human
  • Drosophila Proteins
  • Nerve Tissue Proteins
  • RNA, Long Noncoding
  • RNA, Untranslated
  • RNA-Binding Proteins
  • stau protein, Drosophila