RT Journal Article
T1 Analysis of Putative Epigenetic Regulatory Elements in the FXN Genomic Locus
A1 Pérez Luz, Sara
A1 Fernández-Frías, Iván
A1 Díaz-Nido, Javier
AB Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an abnormally expanded Guanine-Adenine-Adenine (GAA) repeat sequence within the first intron of the frataxin gene (FXN). The molecular mechanisms associated with FRDA are still poorly understood and most studies on FXN gene regulation have been focused on the region around the minimal promoter and the region in which triplet expansion occurs. Nevertheless, since there could be more epigenetic changes involved in the reduced levels of FXN transcripts, the aim of this study was to obtain a more detailed view of the possible regulatory elements by analyzing data from ENCODE and Roadmap consortia databases. This bioinformatic analysis indicated new putative regulatory regions within the FXN genomic locus, including exons, introns, and upstream and downstream regions. Moreover, the region next to the end of intron 4 is of special interest, since the enhancer signals in FRDA-affected tissues are weak or absent in this region, whilst they are strong in the rest of the analyzed tissues. Therefore, these results suggest that there could be a direct relationship between the absence of enhancer sequences in this specific region and their predisposition to be affected in this pathology.
PB MDPI
YR 2020
FD 2020-05-12
LK https://hdl.handle.net/20.500.14352/102040
UL https://hdl.handle.net/20.500.14352/102040
LA eng
NO Author Contributions: I.F.-F. analyzed the data. I.F.-F. and S.P.-L. organized the data and wrote this paper. J.D.-N. conceived the study and revised the final version of this paper. All authors have read and agreed to the published version of the manuscript.
NO Plan Nacional de Investigación
NO Comunidad de Madrid
DS Docta Complutense
RD 9 abr 2025