Summary of the science
DNA is a molecule found in all living organisms. It carries the genetic instructions that determine the traits and characteristics of an organism. Genes are segments of DNA that contain the instructions for making specific proteins - imagine an instruction manual. Gene regulation involves a set of processes that determine whether a gene is "switched on" or "switched off". When we say a gene is "switched on," it means that the gene is active and producing its corresponding protein. This protein can carry out its specific functions within the cell. On the other hand, when a gene is "switched off," it means that the gene is not active, and it is not producing its protein.
About the research
Wendy Bickmore and her colleagues study how the three-dimensional folding of the genome affects gene regulation and its role in normal development and disease. They investigate the the elements involved in gene regulation. Distant regulatory elements, known as enhancers, play a crucial role in spatial and temporal regulation of genes. These enhancers can be located far away from the genes they regulate, even up to millions of base pairs. Mutations or sequence changes in these enhancers can disrupt their ability to interact with target genes, leading to improper gene expression and potential disease.
About the illustration
With our illustration we wanted to highlight the importance of enhancers (distant regulators) in regulating gene expression. We visualised the process using a quarter cross section of a cell. Inside the cell, the chromatin is widely distributed and the enhancers, together with the genes they regulate, are indicated in white, with a line connecting them to highlight the distance between them. mRNA, the outcome of gene expression, is shown leaving the cell through pores.