Figure 2.

FMR1 gene expression. Boxplots show FMR1 expression in PBMCs (A) and fibroblasts (B) for full mutation females, full mutation males and mosaic individuals as measured by qRT-PCR relative to a reference gene (Gus). The line across each box represents the group median. Outliers are shown as circles. Scatterplots of FMR1 mRNA expression levels (y-axis) as a function of percent methylation (x-axis) show single data points demonstrating decrease FMR1 mRNA expression with increased methylation in PBMC's (C) and in fibroblasts (D). Circles represent observed data. The solid line shows the linear regression fit.