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Fig. 2 | Biology of Sex Differences

Fig. 2

From: X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

Fig. 2

The X-linked modifier of ZPBP2 methylation resides on the q-arm of the X chromosome. a Dosage of X-chromosomal regions in female fibroblast cell lines and female carriers of Xq10-q21 duplications tested in the study. Regions present in one copy are shown in dark red. Regions present in three copies are shown in dark blue and in four to five copies in blue. The rest are present in two copies. The cell line ID is shown on the left. The coordinates of the deletion and duplication boundaries are based on array-CGH data. The possible locations of the X-linked gene that influences ZPBP2 methylation are shown below the diagram. b Average methylation levels across the 10 CGs of the ZPBP2 DMR in fibroblast cell lines from Turner syndrome patients with an 45,X karyotype (n = 4) compared to Turner syndrome patients with a 46,X,i(Xq) karyotype (n = 4), carriers of Xq deletions (n = 4), female carriers of trisomy X (47/48,XXX) (n = 3), 46,XX females (n = 13), and 46, XY males (n = 7). Numbers of samples, copies of the Xq, and numbers of Xi are shown below the x-axis. c Average methylation levels across the 10 CGs of the ZPBP2 DMR in peripheral blood cells (PBC) from females (C1, n = 49), non-carrier female relative of RLIM mutation carriers (C2, n = 6), heterozygous female carriers of Xq13-q21 duplications (n = 3), heterozygous female carriers of an ATRX mutation (n = 2), heterozygous female carriers of an RLIM mutation (n = 8), males (C3, n = 48), and male carriers of Xq13-q21 duplications (n = 2)

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