Journal article

Long Range Regulation of Human FXN Gene Expression

Novita Puspasari, Simone M Rowley, Lavinia Gordon, Paul J Lockhart, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero



BACKGROUND: Friedreich ataxia (FRDA) is the most common form of hereditary ataxia characterized by the presence of a GAA trinucleotide repeat expansion within the first intron of the FXN gene. The expansion inhibits FXN gene expression resulting in an insufficiency of frataxin protein. METHODOLOGY/PRINCIPAL FINDING: In this study, computational analyses were performed on the 21.3 kb region upstream of exon 1 of the human FXN gene and orthologs from other species in order to identify conserved non-coding DNA sequences with potential regulatory functions. The conserved non-coding regions identified were individually analyzed in two complementing assay systems, a conventional luciferase reporte..

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Funding Acknowledgements

This work was supported by the Friedreich Ataxia Research Association (Australasia), the Friedreich's Ataxia Research Alliance (USA), the National Ataxia Foundation (USA) and the Victorian Government's Operational Infrastructure Support Program. NP was the recipient of a Ph.D. stipend from the Friedreich Ataxia Research Association (Australasia). MBD is a National Health and Medical Research Council Practitioner Fellow. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.