Fig. 1.

a Linked region in Xq13.1 showing XDP-associated genetic changes (“XDP haplotype”: DSC12, SVA retrotransposon insertion, DSC10, del48, DSC1, DSC2, DSC3), located either in introns of TAF1 or within an untranslated region (“Multiple Transcript System”, MTS) distal to the gene. b qPCR analysis showing significant downregulation of TAF1 in the XDP group (shaded boxes) in both blood and fibroblast-derived cDNA, and no difference in two other genes in the linked region. TAF1 and OGT are both expressed in blood and fibroblasts, while CXCR3 is expressed only in blood. Boxplot whiskers extend to data points that are within ×1.5 the interquartal ranges. EARs expressed Alu repeats