Article
CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment.
Nature communications - 1 Jul 2024
Zhang Jie, Hu Gongcheng, Lu Yuli, Ren Huawei, Huang Yin, Wen Yulin, Ji Binrui, Wang Diyang, Wang Haidong, Liu Huisheng, Ma Ning, Zhang Lingling, Pan Guangjin, Qu Yibo, Wang Hua, Zhang Wei, Miao Zhichao, Yao Hongjie
Abstract excerpt
The three-dimensional genome structure organized by CTCF is required for development. Clinically identified mutations in CTCF have been linked to adverse developmental outcomes. Nevertheless, the underlying mechanism remains elusive. In this investigation, we explore the regulatory roles of a clinically relevant R567W point mutation, located within the 11th zinc finger of CTCF, by introducing this mutation into...
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