Exploring mechanisms of enhancer action in erythropoiesis

Gene expression is orchestrated by thousands of DNA elements called enhancers. Importantly, enhancers activate different combinations of genes in different cell types. This explains variations in the body’s tissues, such as the brain and liver. Mutations in enhancers may also underlie a wide range of human genetic diseases. Despite their paramount importance, the mechanism of gene activation by enhancers is poorly understood.

I aim to study how enhancers switch on their target genes at a critical stage in red blood cell development when early red blood cells are required to rapidly replicate their DNA before they can mature. I will investigate how enhancers interact with the genes they activate during this key stage, which factors bind to the enhancers and how these factors activate the expression of target genes.

This project will advance our understanding of gene regulation in normal development and elucidate how mutations in enhancers cause disease.