Figure 4.

Loss of the Methylation Boundary in Fibroblasts and PBMCs from Male FRAXA Individuals

(A–C) In DNA from FRAXA individuals from commercially obtained fibroblasts GM07072 (A) and GM05848 (B) or from PBMC sample 14,451 (C), the methylation border was absent and methylation was observed throughout the promoter region downstream to the CGG repeat, except for a few unmethylated CpG dinucleotides. In (A), a part of the opposite strand was also sequenced. In (B) and (C), bisulfite sequencing was extended upward to CpG dinucleotide 104.

(D) FMR1 map as in Figure 1C, except that all CpGs are indicated as methylated: ●.