Fig. 2

Maternal deletion of Smchd1 results in aberrant XCI in male and perturbed imprinted XCI in female E2.75 preimplantation embryos. a Distribution of \(\textit{Smchd1}^{mat\Delta }\) vs wt gene expression \(\hbox {log}_{2}\)-fold changes on autosomes and the X chromosome for male and female E2.75 embryos. For females, results of the allele-specific differential expression analysis are shown, with paternal alleles in blue and maternal alleles in pink. Two-sample t-tests; male: p = 2.4e−5; female paternal allele p = 7.6e−6; female maternal allele p = 0.18. b Distribution of paternal over maternal log2 expression ratios in wt female E2.75 embryos. Paternal X-linked genes are significantly repressed (p = 1.5e−4, one-sample t-test). c Average CpG island (CGI) methylation on the X chromosomes of individual \(\textit{Smchd1}^{wt}\) and \(\textit{Smchd1}^{mat\Delta }\) male and female E2.75 embryos. Females: n = 6 wt and 4 mat\(\Delta\); males: n = 5 wt and 8 mat\(\Delta\). t-tests, males maternal X: p-value = 0.4; females maternal X: p-value = 0.1; females paternal X: p-value = 0.2