CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment
Jie Zhang, Gongcheng Hu, Yuli Lu, Huawei Ren, Yin Huang, Yulin Wen, Binrui Ji, Diyang Wang, Haidong Wang, Huisheng Liu, Ning Ma, Lingling Zhang, Guangjin Pan, Yibo Qu, Hua Wang, , Hongjie Yao
This study shows that a CTCF R567W mutation causes developmental disorders by altering 3D genome structure and neurodevelopmental pathways in mouse and human models.
Nature Communications · Jul 1, 2024Peer-reviewedMolecular Biology