Figure 3.

FMRP expression. Boxplots show semi-quantitative measures of FMRP expression in PBMCs (A) and fibroblasts (B) for control individuals, full mutation females, full mutation males, and mosaic individuals as detected by Western Blot analysis. The line across each box represents the group median and outliers are shown as circles. Scatterplots show single data points for FMRP expression (y-axis) as a function of percent of methylation in PBMCs (C) and fibroblasts (D), illustrating an inverse association between FMRP levels and percent of methylation and in both cases, a dramatic loss of FMRP expression in highly methylated alleles.