Figure 3.
DNA methylation in intron 32 of TAF1, proximal to the SVA insertion. (a) Long-read nanopore sequencing on DNA from different tissues and cell lines from a healthy control and a patient with XDP (i.e., blood, iPSCs, cerebellum). Arrows indicate the two CpGs selected for analysis by pyrosequencing. (b) Pyrosequencing results showing methylation levels at the two selected CpGs: chrX:70,659,134 and chrX:70,659,225 (hg19), in blood (n = 6 controls, n = 6 patients), cerebellum (n = 3 controls; n = 2 patients), frontal cortex (n = 3 controls; n = 2 patients), and iPSCs (n = 3 controls; n = 4 patients; n = 2 XDPΔSVA cell lines). Unpaired t test was performed on blood samples after testing for normality with Kolmogorov–Smirnov test. n.s., not significant.