Functional assessment of FRDA-3′-UTR versus WT-3′-UTR.

<p> U2OS (black bars) and HEK-293 (grey bars) cells were transfected with luciferase reporter gene system, respectively 150 ng of empty plasmid or plasmid WT-3′-UTR or plasmid FRDA-3′-UTR. Histograms show the <i>Renilla</i> luciferase activity (normalized to firefly luciferase and to the mock transfected cells) following transfection of each plasmid into both cell lines. All results represent mean ± SEM of three independent experiments, each in triplicate. *<i>P</i><0.05, Student-t test.</p

Frequencies of the haplotypes comprising the five SNPs of the <i>FXN</i> 3′-UTR.

<p>Frequencies of the haplotypes comprising the five SNPs of the <i>FXN</i> 3′-UTR.</p

Genotype frequencies of the five SNPs for the <i>FXN</i> 3′-UTR in cases, cases from the replication study (RS-cases), and controls.

<p>Genotype frequencies of the five SNPs for the <i>FXN</i> 3′-UTR in cases, cases from the replication study (RS-cases), and controls.</p

Distribution of the most common haplotypes.

<p>Genotype frequencies of haplotypes in cases, controls and the replication study cases (RS-cases) are plotted as pie charts for the most common haplotypes of the <i>FXN</i> 3′-UTR (TGCTT, CATCG, CATCT). Haplotype TATTT was uniquely found among RS-cases.</p

Computational analysis of miRNA targeting on <i>FXN</i> 3′-UTR.

<p>Computational analysis of miRNA targeting on <i>FXN</i> 3′-UTR.</p

Schematized representation of the genomic structure of the <i>FXN</i> gene.

<p> The pathogenic expansion of the GAA repeat within intron 1 is indicated by a triangle, exons by grey boxes, respectively dark when translated and light when untranslated. Short genetic variations are indicated as black bars. The <i>FXN</i> 3′-UTR region, which was sequenced is highlighted by a square bracket.</p

Genetic association of ITR3 and SNPs of the <i>FXN</i> 3′-UTR with FRDA haplotype in cases versus controls.

<p>Genetic association of ITR3 and SNPs of the <i>FXN</i> 3′-UTR with FRDA haplotype in cases versus controls.</p