Article
Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.
Molecular cell - 19 Feb 2026
Borges Rodrigo L, González-Blanco Gretter, Arigela Harikumar, Huang Yingyu, Caeiro Lucas D, Fattakhov Nikolai, Lepore Stefano, Garcia-Martinez Liliana, Maurice Matea, Mehta Pushti D, Park Emily J, MacGillivray Kailynn, Nehru Jevithen, Chau Matthew, Robayo Maria C, Abad Clemer, Bilbao-Martinez Alicia, Monteiro Fabiola, Luo Xi, Tan Song, Bilbao Daniel, Sidoli Simone, Di Stefano Bruno, Walz Katherina, Saltzman Arneet L, Verdun Ramiro E, Shiekhattar Ramin, Morey Lluis
Abstract excerpt
The prevalence of neurodevelopmental disorders (NDDs) in children is increasing, yet their underlying causes remain largely unknown. We identified heterozygous mutations in the Polycomb repressive complex 1 (PRC1) E3 ligases RING1 and RNF2 in individuals with NDDs and revealed distinct mechanisms by which they compromise PRC1 activity. We developed cellular and mouse models carrying the Ring1bR70H variant, which...
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