The genome is littered with small stretches of DNA sequences that play a critically important role in biology by controlling the expression of genes near and far. While researchers have identified hundreds of thousands of these Cis-regulatory elements (CREs) across the human genome, which gene, or genes, each of them regulates has remained relatively hazy. A team led by Ludwig San Diego’s Bing Ren sought to clarify that picture by mapping the long-range interactions of chromatin—the term for DNA in its protein packaging—involving 18,943 gene promoters in 27 human cell/tissue types. (Promoters are DNA sequences that mark where the reading of a gene should begin.) Bing and his colleagues used this information to infer the target genes of 70,329 candidate regulatory elements and identified 27,325 variant CRE sequences associated with 2,117 physiological traits and diseases. An analysis of these maps revealed the influence of CREs on many common molecular pathways underlying distinct groups of human traits and diseases. The work was published in September in Nature Genetics.
This article appeared in the November 2019 issue of Ludwig Link. Click here to download a PDF (1 MB).