BS-515-02 DELETION OF A GATA-RESPONSIVE NKX2-5 ENHANCER CAUSES CYANOTIC CONGENITAL HEART DISEASE AND HYPOMORPHIC RIGHT PURKINJE NETWORK

Abstract

Cardiac progenitor cells of the second heart field (SHF) give rise to the right ventricle (RV), outflow tract (OFT), and right bundle branch (RBB). Perturbation of the SHF contribution during development results in congenital heart disease involving the OFT and RBB. Although critical transcriptional programs, such as Gata and Nkx2-5, are important for SHF development, little is known about how these factors function in a gene regulatory network. Prior work has shown that a putative Gata-dependent cardiac enhancer enriches expression of Nkx2-5 in the SHF, however validation studies confirming relevance for cardiac morphogenesis is lacking.