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Fig. 3 | Genome Biology

Fig. 3

From: Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models

Fig. 3

Validation and extension of the results for DS-DM in the AMH and ZMAT3 genes by bis-seq. a CpG hypermethylation is localized to a large intragenic CGI of the AMH gene in DS whole cerebellar cortex. The array data and the results of bis-seq both show that the DM affects multiple CpGs. As shown by the DM track (Δ Methyl; mean difference in AVG_Beta in DS compared with control samples, showing all peaks with a p value < 0.001) aligned to ENCODE and Zhu et al. [100] data (GSE17312 and GSM733758, respectively), strong signals for gain of methylation are localized to this region (marked by a peak of H3K27me3 in h1-ESC) and there is loss of methylation at two positions upstream of the CGI. The asterisk indicates the position of the bis-seq amplicon. b CpG hypomethylation localized to the ZMAT3 promoter region in DS cerebellar cortex is confirmed by bis-seq. One of the two affected CpGs is in a binding site for the GABPA TF (Figure S9 in Additional file 1). The asterisk indicates the position of the bis-seq amplicon. hESC human embryonic stem cell

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