Fig. 1

Molecular characterization of the homozygous and heterozygous CISD2 transcript. a A schematic representation of the CISD2 transcript: the arrows represent the PCR primers, and four overlapping sets of CISD2 primers were used. The lines indicate the expected sizes of the PCR products using the specific set of primers. b The nucleotide sequence of CISD2 cDNA with exons in uppercase letters and alternate colours, the 5′-UTR and 3′-UTR in lowercase letters, and the ATG in bold letters. The arrows indicate the PCR primers used for the characterization of the CISD2 transcript. c RT-PCR analysis performed on PBMCs derived from a healthy individual (CTR), homozygous probands (1 and 2) and heterozygous unaffected parents (3 and 4). ActB was used as a loading control, and a negative PCR control (b) was included to test possible contamination. The data indicate a putative skipping of the N-terminus of CISD2 in patients and suggest a strong instability of mutant CISD2 mRNA. d mRNA quantitative real-time PCR. A schematic representation of the CISD2 transcript shows the PCR primers used for the analysis. The CISD2 mRNA level drastically decreased in the homozygous samples, compared to that in the healthy PBMCs. The histograms show values normalized relative to a housekeeping gene (ActB) and expressed as a fold modulation compared to the healthy control. The error bars represent the mean ± SEM for three experiments. Ordinary one-way ANOVA, *P < 0,05, **P < 0,01, ***P < 0,001 and ****P < 0,0001