Fig. 4: Additional key genes proposed to have lower expression in monosomy X, including X-Y homolog pairs.

a Schematic showing the genomic location of key genes of interest on the X chromosome (see Fig. 4b, c). PAR genes are not shown. b Differential expression in our datasets of selected “core” X chromosome genes that have been linked to monosomy X, including those proposed to show X chromosome dosage (from Viuff et al. 2023). Individual mean data points for each tissue group are shown, as indicated in the legend. The bars represent the mean of these different tissue groups with standard error of the mean shown. Log₂ fold change (FC) = −1.0 represents half the expression in 45,X samples (i.e., haploinsufficiency), whereas log₂FC = 0 represents similar expression in 45,X samples and 46,XX and 46,XY controls (n = 4 for each karyotype in each tissue group). Note XIST and TSIX show strong differential expression in all datasets but are omitted from the graphic. c Differential expression in our datasets of selected X chromosome genes linked to “sex differences” (from San Roman et al.)²⁷. Data are presented as described above. Note the different y-axis scale compared to Fig. 4b. d Differential expression in our datasets of key “ancestral X-Y homolog” gene pairs (from Godfrey et al. 2020)³⁷. This panel shows the X chromosome gene of the pair, with the corresponding Y chromosome homolog gene below it (Fig. 4e). Data are presented as described above. e Differential expression in our datasets of key “ancestral X-Y homolog” gene pairs (from Godfrey et al. 2020)³⁷. This panel shows the Y chromosome gene of the pair, with the corresponding X chromosome homolog gene above it (Fig. 4d).