FOX-2 dependent splicing of ataxin-2 transcript is affected by ataxin-1 overexpression

PLoS One. 2012;7(5):e37985. doi: 10.1371/journal.pone.0037985. Epub 2012 May 30.

Abstract

Alternative splicing is a fundamental posttranscriptional mechanism for controlling gene expression, and splicing defects have been linked to various human disorders. The splicing factor FOX-2 is part of a main protein interaction hub in a network related to human inherited ataxias, however, its impact remains to be elucidated. Here, we focused on the reported interaction between FOX-2 and ataxin-1, the disease-causing protein in spinocerebellar ataxia type 1. In this line, we further evaluated this interaction by yeast-2-hybrid analyses and co-immunoprecipitation experiments in mammalian cells. Interestingly, we discovered that FOX-2 localization and splicing activity is affected in the presence of nuclear ataxin-1 inclusions. Moreover, we observed that FOX-2 directly interacts with ataxin-2, a protein modulating spinocerebellar ataxia type 1 pathogenesis. Finally, we provide evidence that splicing of pre-mRNA of ataxin-2 depends on FOX-2 activity, since reduction of FOX-2 levels led to increased skipping of exon 18 in ataxin-2 transcripts. Most striking, we observed that ataxin-1 overexpression has an effect on this splicing event as well. Thus, our results demonstrate that FOX-2 is involved in splicing of ataxin-2 transcripts and that this splicing event is altered by overexpression of ataxin-1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing*
  • Ataxin-1
  • Ataxins
  • Cell Nucleus / metabolism
  • Gene Expression Regulation / genetics*
  • HEK293 Cells
  • HeLa Cells
  • Humans
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Protein Binding
  • Protein Isoforms / metabolism
  • Protein Transport
  • RNA Splicing Factors
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • RNA-Binding Proteins / metabolism*
  • Repressor Proteins / metabolism*

Substances

  • ATXN1 protein, human
  • Ataxin-1
  • Ataxins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Protein Isoforms
  • RBFOX2 protein, human
  • RNA Splicing Factors
  • RNA, Messenger
  • RNA-Binding Proteins
  • Repressor Proteins