Long intronic GAATTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia

• Published in: Nucleic acids research Vol. 36; no. 19; pp. 6056 - 6065
• Main Authors: Soragni, E., Herman, D., Dent, S. Y. R., Gottesfeld, J. M., Wells, R. D., Napierala, M.
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.11.2008; Oxford Publishing Limited (England)
• Subjects: Cell Line; DNA Repeat Expansion; Frataxin; Friedreich Ataxia - genetics; Gene Silencing; Genes, Reporter; Green Fluorescent Proteins - genetics; Heterochromatin - metabolism; Histones - metabolism; Humans; Introns; Iron-Binding Proteins - genetics; Models, Genetic; Models, Molecular; Transcription, Genetic

Friedreich ataxia (FRDA) is caused by hyperexpansion of GAA*TTC repeats located in the first intron of the FXN gene, which inhibits transcription leading to the deficiency of frataxin. The FXN gene is an excellent target for therapeutic intervention since (i) 98% of patients carry the same type of m...