Fig. 3
From: DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study
X chromosome number-dependent increase in AR methylation levels in 47,XXY and 49,XXXXY probands and their 46,XY or 46,XX parents and siblings. Bisulfite pyrosequencing of saliva DNA shows a dose-dependent increase in DNA methylation in exon 1 CAG tandem repeat of the AR gene (a). Linear regression analysis showed a strong correlation between observed DNA methylation levels and X chromosome number. Graph shows the regression results for CpG-1 (b). Note that the 46,XX and 47,XXY show the same methylation levels, suggesting that the second X chromosome in the XXY probands are inactivated. Groups with different numbers of X chromosomes (1–4) are: 46,XY; 46,XX; 47,XXY; and 49,XXXXY, respectively. Error bars are presented as mean ± STD