MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2.
Alexia Martínez de PazLeila KhajaviHélène MartinRafael Claveria-GimenoSusanne Tom DieckManjinder S CheemaJose V Sanchez-MutMalgorzata M MoksaAnnaick CarlesNick I BrodieTaimoor I SheikhMelissa E FreemanEvgeniy V PetrotchenkoChristoph H BorchersErin M SchumanMatthias ZytnickiAdrian Velazquez-CampoyOlga AbianMartin HirstManel EstellerJohn B VincentCécile E MalnouJuan AusióPublished in: Epigenetics & chromatin (2019)
Our study supports the idea that Rett syndrome might arise from simultaneous impairment of cellular processes involving non-overlapping functions of MECP2 isoforms. For instance, MeCP2-E1 mutations might impact stimuli-dependent chromatin regulation, while MeCP2-E2 mutations could result in aberrant ribosomal expression. Overall, our findings provide insight into the functional complexity of MeCP2 by dissecting differential aspects of its two isoforms.