Genetic ‘shooting stars’ impact risk for disease

Fleeting differences in gene expression between individuals that occur at different points in time during cell development may have consequences on the ultimate risk for disease in mature tissues and cell types.

In a new study published this week in Science, researchers from the University of Chicago and Johns Hopkins University analyzed RNA sequence data from 16 time points in human stem cells as they developed into cardiomyocytes, or heart muscle cells. In the process, they identified hundreds of expression quantitative trait loci (eQTLs), sections of DNA that are associated with differences in gene expression between individuals.

These differences in how genes are expressed may have functional significance and perhaps even explain varying risk for diseases. Since many of these differences in expression occur at intermediate points during development, however, scientists can’t see them by studying only mature, fully-developed tissues.

“Those associations are like shooting stars,” said Yoav Gilad, PhD, chief of genetic medicine at UChicago and senior author of the study. “They appear at one point and never again during development, and they might actually be important to the phenotype of the mature tissue and maybe even disease. But unless you study those particular cell types at that particular time, you’ll never see them.”



As reported by Matt Wood in The Forefront, June 27, 2019