Genetic variants in distal genomic enhancers of cardiac genes
Presented by: Roger Foo
Presentation time:
The genome is folded and organised into the tight nuclear space so that target genes are brought into close physical proximity to their distal transcriptional enhancers. Our lab has been studying chromatin folding in the heart and mapped distal enhancers to key cardiac genes. Within enhancers, we have identified genetic variants that associate with differential enhancer H3K27ac-acetylation enrichment, and also differential target gene expression. In further analysis, we have intersected the Singapore population reference genome obtained from the SG10K cohort to discover frequencies of variants in distal cardiac enhancers. The functional significance of Singapore unique enhancer variants will be studied in the future using techniques of multiplex reporter assays.