DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia

Proc Natl Acad Sci U S A. 2006 Aug 1;103(31):11497-502. doi: 10.1073/pnas.0604939103. Epub 2006 Jul 20.

Abstract

The DNA abnormality found in 98% of Friedreich's ataxia (FRDA) patients is the unstable hyperexpansion of a GAA.TTC triplet repeat in the first intron of the frataxin gene. Expanded GAA.TTC repeats result in decreased transcription and reduced levels of frataxin protein in affected individuals. Beta-alanine-linked pyrrole-imidazole polyamides bind GAA.TTC tracts with high affinity and disrupt the intramolecular DNA.DNA-associated region of the sticky-DNA conformation formed by long GAA.TTC repeats. Fluorescent polyamide-Bodipy conjugates localize in the nucleus of a lymphoid cell line derived from a FRDA patient. The synthetic ligands increase transcription of the frataxin gene in cell culture, resulting in increased levels of frataxin protein. DNA microarray analyses indicate that a limited number of genes are significantly affected in FRDA cells. Polyamides may increase transcription by altering the DNA conformation of genes harboring long GAA.TTC repeats or by chromatin opening.

Publication types

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

MeSH terms

  • Cell Line
  • Frataxin
  • Friedreich Ataxia / genetics*
  • Humans
  • Iron-Binding Proteins / genetics*
  • Ligands
  • Molecular Structure
  • Nucleic Acid Conformation
  • Nylons / metabolism*
  • Oligonucleotide Array Sequence Analysis
  • Transcription, Genetic*
  • Trinucleotide Repeats*

Substances

  • Iron-Binding Proteins
  • Ligands
  • Nylons

Associated data

  • GEO/GSE5040