CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment
Jie Zhang,
Gongcheng Hu,
Yuli Lu
et al.
Abstract:The three-dimensional genome structure organized by CTCF is required for development. Clinically identified mutations inCTCFhave been linked to adverse developmental outcomes. Nevertheless, the underlying mechanism remains elusive. In this investigation, we explored the regulatory roles of a clinically relevant R567W point mutation, located within the 11thzinc finger of CTCF, by introducing this mutation into both murine models and human embryonic stem cell-derived cortical organoid models. Mice with homozygou… Show more
Set email alert for when this publication receives citations?
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.