Figure 6.

Reduced cohesin binding at hypo-methylated promoters in CdLS with minimal changes for hyper-methylated promoters. (A) Cohesin binding to genes with hypo-methyated promoters is reduced in CdLS, and less cohesin binds to promoters on the X chromosome than on autosomes; 6692 of such genes are on autosomes, while 145 are on the X chromosome. (B) Less cohesin binds to genes with hyper-methylated promoters in both controls and probands; however, more cohesin binds to X-linked promoters than to autosomal promoters in controls and this X-linked cohesin binding is reduced in CdLS. Log₂(β/1 – β) < −2 was defined as hypo-methylation and Log₂(β/1 – β) > 0 was defined as hyper-methylation. Cohesin signal was quantified and log-transformed before the analysis. Only 11 female samples from controls and 11 female samples from severely affected CdLS probands were analyzed.