The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters

Nucleic Acids Res. 2015 Oct 15;43(18):8898-912. doi: 10.1093/nar/gkv911. Epub 2015 Sep 17.

Abstract

Cytokine or growth factor activated STAT3 undergoes multiple post-translational modifications, dimerization and translocation into nuclei, where it binds to serum-inducible element (SIE, 'TTC(N3)GAA')-bearing promoters to activate transcription. The STAT3 DNA binding domain (DBD, 320-494) mutation in hyper immunoglobulin E syndrome (HIES), called the HIES mutation (R382Q, R382W or V463Δ), which elevates IgE synthesis, inhibits SIE binding activity and sensitizes genes such as TNF-α for expression. However, the mechanism by which the HIES mutation sensitizes STAT3 in gene induction remains elusive. Here, we report that STAT3 binds directly to the AGG-element with the consensus sequence 'AGG(N3)AGG'. Surprisingly, the helical N-terminal region (1-355), rather than the canonical STAT3 DBD, is responsible for AGG-element binding. The HIES mutation markedly enhances STAT3 AGG-element binding and AGG-promoter activation activity. Thus, STAT3 is a dual specificity transcription factor that promotes gene expression not only via SIE- but also AGG-promoter activity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Binding Sites
  • Cell Line
  • Consensus Sequence
  • Humans
  • Job Syndrome / genetics
  • Mice
  • Mutation*
  • Nucleotide Motifs
  • Promoter Regions, Genetic*
  • Protein Processing, Post-Translational
  • STAT3 Transcription Factor / chemistry
  • STAT3 Transcription Factor / genetics*
  • STAT3 Transcription Factor / metabolism
  • Transcriptional Activation*
  • Tumor Necrosis Factor-alpha / genetics

Substances

  • STAT3 Transcription Factor
  • Tumor Necrosis Factor-alpha