The Encyclopedia of DNA Elements (ENCODE) project just published in July its third installment of papers detailing the regulatory DNA sequences across the human and mouse genomes. Ludwig San Diego’s Bing Ren led one of the studies reported in Nature. Bing’s study charted the gene expression patterns, histone modifications (chemical marks that regulate gene expression) and accessibility of DNA to the cell’s gene reading and regulatory machinery in 12 distinct tissue types over the course of eight developmental stages in mice. Integrating these data revealed the activity of thousands of genes across tissues and developmental stages and more than 500,000 candidate DNA sequences that regulate their expression across various stages of mouse fetal development. They discovered that genetic risk variants for a variety of human diseases are located in regions of the human genome that share evolutionary origins with regulatory sequences mapped on the mouse genome. The findings shed light on the genetic origins of a number of developmental diseases and have reassuring implications for the use of mouse models for the study of a variety of diseases.
This article appeared in the December 2020 issue of Ludwig Link. Click here to download a PDF (1 MB).