Article
MECP2 mutations disrupt pluripotent stem cell fate through remodeling of the three-dimensional genome.
Cell death & disease - 8 May 2026
Zhou Jing, Che Yizhuo, Jing Xintao, Li Fang, Peng Hang, Liu Yuchun, Cao Li, Zhang Jinyuan, Wang Xiaofei, Zhang Jia, Guo Aihong, Tong Dongdong, Wang Bingju, Huang Chen
Abstract excerpt
Mutations in the MECP2 gene are the primary cause of Rett syndrome, yet their mechanistic roles during early developmental stages remain poorly understood. In this study, CRISPR-Cas9 technology was applied to generate three loss-of-function mutations in male induced pluripotent stem cells (iPSCs), namely MECP2del6, MECP2insA, and MECP2insT, each targeting distinct functional domains of MECP2. Our results showed...
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