Extended Data Fig. 6. FMRpolyG expression in human cells and control human neurons.

A) Immunocytochemistry against FMRpolyG on Control ((CGG)₂₃), FXTAS ((CGG)_100–117), and FXS ((CGG)_931–940, fully methylated) patient derived lymphoblasts. B) Rater-blinded quantification of FMRpolyG staining expressed as a ratio to pre-immune serum at the same concentration (μg/mL) on the same cells. Values are expressed relative to the FXS line, which does not express the FMR1 transcript (Control n=50, FXTAS n=133, FXS n=102; p=0.0000000000005). C) Immunocytochemistry to FMRpolyG (red) in mature control human neurons (TUJ1-positive (green)) treated with +1RAN ASO-1 or Control ASO treatment. D) Quantification of FMRpolyG signal with +1RAN ASO-1 (n=90) or Control ASO (n=69) treatment, where “n” is the mean CTCF signal from 5 neurons (p=0.0485). Panel B: Kruskal Wallis test with post-hoc two sided Mann Whitney U tests. Panel D: Two sided unpaired Student t-test. *p<0.05, ****p<0.0001. Box extends to 25^th/75^th percentiles with a line at mean and whiskers indicate 95% CI. Marked dots are only shown for values outside the 95% CI.