Fig. 1
From: Maternal SMCHD1 controls both imprinted Xist expression and imprinted X chromosome inactivation
Maternal deletion of Smchd1 results in aberrant Xist expression from the maternal allele in both male and female E2.75 preimplantation embryos. a Schematic of genetic crosses for maternal deletion of Smchd1. b Genome-wide differential expression in \(\textit{Smchd1}^{mat\Delta }\) female embryos vs wt, before haplotyping and after separating maternal and paternal alleles. Average expression is in log2 counts per million (cpm). Only maternal Xist is significantly differentially expressed (adjusted p-value = 6e−4). c Genome-wide differential expression in \(\textit{Smchd1}^{mat\Delta }\) male embryos vs wt, without haplotyping. Significant genes are coloured black (5% FDR). Xist is not significant (adjusted p-value = 0.17) due to partial penetrance in \(\textit{Smchd1}^{mat\Delta }\) samples, but has a large \(\hbox {log}_{2}\)-fold change (4.74). d Xist expression in individual male and female wt and \(\textit{Smchd1}^{mat\Delta }\) E2.75 embryos. CPM: counts per million (of total library size before haplotyping). “Mixed” counts refer to counts without haplotyping. Females: n = 6 wt and 4 mat\(\Delta\); males: n = 5 wt and 8 mat\(\Delta\)