Figure 1.

Schematic diagram of NR2E3 genomic locus, structure of the encoded protein and location of identified mutations. The top panel shows the NR2E3 gene on 15q23 which consists of 8 exons and spans approximately 7.7 kb of genomic DNA. Exons are shown as boxes and introns as lines; all are to scale. The middle panel shows which domains each exon contributes to the protein structure. The gene encodes a predicted 410 amino acid protein which shows the characteristic structure of a nuclear hormone receptor (lower panel) and consists of 5 domains: the N-terminal A/B domain (regions 1 and 2, shown in dark blue), a DNA binding domain (light grey) which contains 2 Zn-fingers (region 3, dark grey), a hinge region (region 4, green) and the ligand binding domain at the C-terminal end (region 5, light blue). The position of the β-sheets, α-helices and the activator function region 2 are also shown (in red, blue and darker blue, respectively). The positions of the mutations described in this report are also shown. Figure adapted from Mollena et al. [22].