Ontology highlight
ABSTRACT:
SUBMITTER: van Weerd JH
PROVIDER: S-EPMC7365664 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
van Weerd Jan Hendrik JH Mohan Rajiv A RA van Duijvenboden Karel K Hooijkaas Ingeborg B IB Wakker Vincent V Boukens Bastiaan J BJ Barnett Phil P Christoffels Vincent M VM
eLife 20200716
Genome-wide association studies have implicated common genomic variants in the gene desert upstream of <i>TBX3</i> in cardiac conduction velocity. Whether these noncoding variants affect expression of <i>TBX3</i> or neighboring genes and how they affect cardiac conduction is not understood. Here, we use high-throughput STARR-seq to test the entire 1.3 Mb human and mouse <i>TBX3</i> locus, including two cardiac conduction-associated variant regions, for regulatory function. We identified multiple ...[more]