Fig. 9: Differential expression of genes in the 45,X placenta compared to 46,XX or 46,XY controls.

a Overview of placental age stages used for the study. Karyotypes are indicated by the key. wpc, weeks post conception. b Expression of the X inactivation regulator XIST, bulk RNA-sequencing (RNA-seq) counts in the 45,X placenta group (n = 18) compared to 46,XX placenta (n = 6) and 46,XY placenta (n = 6). c Principal component analysis (PCA) of 45,X, 46,XX and 46,XY placental samples used in the study. PC, principal component. d Volcano plot showing differential expression of genes between the 45,X and 46,XX matched control samples (n = 4 in each group). The top ten most differentially expressed genes in each dataset are labeled, based on adjusted p-value (p-adj) and where log₂ fold change (FC) is greater than +/−0.5. Genes with higher expression in 45,X samples have a positive log₂FC and those with higher expression in control tissues have a negative log₂FC. The significance level of highlighted points is shown in the key. e Volcano plot showing differential expression of genes between the 45,X and 46,XY matched control samples. f Venn diagram with the common intersection showing placenta-specific genes that are consistently lower in 45,X. Data were generated for each group (n = 6 versus n = 6) with a differential expression cut-off of log₂FC > 0.5 and p-adj < 0.05. g Violin plot of CSF2RA expression (normalized counts) in the placenta (bulk RNA-seq) (n = 6 each group). h Violin plot of AADACL3 expression (normalized counts) in the placenta (bulk RNA-seq) (n = 6 each group). i Heat map of AADACL3 and CSF2RA expression across all placental samples (n = 6 samples in each group).