Variation in a Left Ventricle–Specific <i>Hand1</i> Enhancer Impairs GATA Transcription Factor Binding and Disrupts Conduction System Development and Function

Abstract

Together, these findings reveal that SNP rs10054375, which is located within a necessary and sufficient LV-specific Hand1 enhancer, exhibits reduces GATA DNA-binding in electrophoretic mobility shift assay, and this enhancer in total, is required for VCS development and function in mice and perhaps humans.