Article
An intellectual disability-related MED23 mutation dysregulates gene expression by altering chromatin conformation and enhancer activities.
Nucleic acids research - 21 Mar 2023
Yang Yenan, Li Chonghui, Chen Ziyin, Zhang Yiyang, Tian Qing, Sun Meiling, Zhang Shuai, Yu Miao, Wang Gang
Abstract excerpt
Transcriptional Mediator controls diverse gene programs for various developmental and pathological processes. The human Mediator MED23/R617Q mutation was reported in a familial intellectual disability (ID) disorder, although the underlying mechanisms remain poorly understood. Constructed by gene editing, the Med23/R617Q knock-in mutant mice exhibited embryonic lethality due to the largely reduced Med23/R617Q...
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