Functional analysis of cardiac specific cis-regulatory elements involved in heart development and disease

Abstract

Birth defects are the leading cause of infant death and the most common are congenital heart defects (CHD). In the majority of cases, the underlying genetic cause is unknown. There is increasing evidence that variants in non-coding DNA within the functional cis-regulatory elements (CREs) controlling gene expression can cause CHDs. However, little is known about the human CREs that are crucial for cardiovascular development. To address this knowledge gap, we bioinformatically identified cardiovascular CREs based on the occupancy of the CRE by the homeodomain protein NKX2-5 and cardiac chromatin histone modifications. This search defined several putative CREs within the loci of genes specific..