News Finding: "Mutations in SMCHD1 are associated with several human diseases, including a severe form of muscular dystrophy and a syndrome in which an infant's nose fails to develop.
Paper Finding: The X chromosome was therefore disproportionately upregulated by ablating Smchd1.
News Context: "We showed that the SMCHD1 protein influences gene expression by regulating the folding of the inactive X chromosome into its unique conformation, which prevents expression of its genes," says Chen-Yu Wang, MD, of the MGH Department of Molecular Biology , lead author of the Cell paper. "Mutations in SMCHD1 are associated with several human diseases, including a severe form of muscular dystrophy and a syndrome in which an infant's nose fails to develop. Our finding suggests that misfolded chromatin -- the chromosomal structure consisting of DNA wrapped around proteins called histones -- may play a role in those diseases."
Paper Context: Approximately 30% (383/1275) of genes were downregulated, but they were not enriched on the X chromosome ( Figure S2B ). The X chromosome was therefore disproportionately upregulated by ablating Smchd1. 230 of >1,000 total X-linked genes passed our analysis pipeline and were identified as genes subject to XCI in NPCs (Xi genes) ( Figure 1E ).