Friedreich's ataxia--a case of aberrant transcription termination?

Academic Article


  • Reduced expression of the mitochondrial protein Frataxin (FXN) is the underlying cause of Friedreich's ataxia. We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA repeats that links R-loop structures, antisense transcription, and heterochromatin formation as a novel mechanism of transcriptional repression in Friedreich's ataxia.
  • Published In

  • Transcription  Journal
  • Keywords

  • FRDA, Friedreich's ataxia, FXN, Frataxin, Friedreich's ataxia, GAA repeats, H3K9me2/me3, histone H3 lysine 9 methylation, PAS, polyadenylation signal, R-loops, RNAP II, RNA polymerase II, UTRs, untranslated regions, antisense transcription, dsRNA, double-stranded RNA, repeat expansion diseases, transcription termination, Friedreich Ataxia, Gene Expression Regulation, Heterochromatin, Humans, Iron-Binding Proteins, Mitochondria, Transcription Termination, Genetic, Trinucleotide Repeat Expansion
  • Digital Object Identifier (doi)

    Author List

  • Butler JS; Napierala M
  • Start Page

  • 33
  • End Page

  • 36
  • Volume

  • 6
  • Issue

  • 2