Figure 1. Variation in the predicted miR-96/182 binding site of the RDX 3′UTR.
A Pedigree of Iranian family L-1007 with ARNSHL. Open symbols = unaffected; filled symbols = ARNSHL. The c.*95C>A genotype for affected proband II:1 is shown. B Direct sequencing revealed a homozygous alteration (c.*95C>A) in the miR-96/182 seed sequence in proband II:1. C Multisequence alignment generated using PicTar (http://pictar.mdc-berlin.de/) showing that the predicted miR-96/182 binding site in the 3′UTR of the RDX gene is highly conserved across species. hs, human; pt, primate; mm, mouse; rn, rat; cf, dog; gg, chicken; fr, pufferfish; dr, drosophila. D Consequential pairing of the reference RDX target region (c.*95C) with miR-182/96 seeds (top), and the mutant RDX target region (c.*95A) with miR-507/557 seeds (bottom), predicted using TargetScan (http://www.targetscan.org/).