New 3D maps show the internal workings of gene expression of immune cells

Genetic differences are important, but the puzzle has more to it. Researchers need to track down the switches (also called “enhancers”) that regulate when and where a gene is expressed in the body to better understand how genes influence health.

La Jolla Institute researchers have now produced 3D maps of how enhancer sequences and genes interact in several types of immune cells. Their recent Nature Genetics research opens the door to an understanding of the human risk of diseases from asthma to cancer.All of us are taught that there is machinery in a cell that hums along the genetic code, “reading” genes and generating proteins. But in this process, there are two primary genetic players with secret positions.

First are “promoters.” These are the DNA sequences that lie in front of genes in the genetic code. It has to have a promoter for a gene to be noticed. In 2018, a seminal cell study was published by the Vijayanand Laboratory that revealed the effect of genetic variants on a set of human immune cells.

In order to finally see the wiring between the lights and switches, the researchers used a genome-wide mapping technique. They realized that no matter how far away an enhancer was in the DNA code, a way to be physically close to the promoter it regulates would have to be found. The team’s latest 3D maps showed how enhancers potentially loop around to reach promoters on one section of a DNA strand.