Neurodevelopmental disorders from Polycomb complex missense mutations

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Neurodevelopmental disorders from Polycomb complex missense mutations

The causes of many neurodevelopmental disorders (NDDs) is yet to be determined.

The researchers report new missense mutations in the Polycomb repressive complex 1 (PRC1)  E3 ligases RNF2 and RING1 in individuals with neurodevelopmental disorders.

Functional dissection of a deleterious variant reveals that balanced co-recruitment of Polycomb complexes to chromatin is essential for proper neurogenesis and for normal brain function and behavior.

https://www.cell.com/molecular-cell/fulltext/S1097-2765(26)00065-1

https://sciencemission.com/Polycomb-complexes-drives-NDDs