Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4

Mutations in subunits of the SWI/SNF complex cause developmental disorders associated with intellectual disability and speech delay. However, the mechanistic basis of disease is poorly understood. Gao et  al. show that disease-associated SMARCA2 mutations lead to impaired neural differentiation due to changes in transcription factor expression that drive enhancer reprogramming.

Source: Molecular Cell - July 29, 2019 Category: Cytology Authors: Fangjian Gao, Nicholas J. Elliott, Josephine Ho, Alexzander Sharp, Maxim N. Shokhirev, Diana C. Hargreaves Tags: Article Source Type: research