A groundbreaking study titled “Mapping chromatin structure at base-pair resolution unveils a unified model of cis-regulatory element interactions” has made significant strides in understanding the complex architecture of the human genome. The study published in the journal Cell provides an unprecedented, comprehensive map of DNA folding with single base-pair resolution in living cells. This prodigious tome marks a new era in understanding how genes are regulated and what that means to many diseases.
Under the direction of Hangpeng Li, the experimental effort featured a longstanding collaboration with Professor Rosana Collepardo-Guevara from the University of Cambridge. The research team used sophisticated computer simulations to confirm their results, a first in the field of genetics. As most of you know, the human genome consists of roughly 3 billion “letters” of DNA. Inside each cell, this DNA would measure about 2 meters long, all neatly arranged into a cramped space just one-hundredth of a millimeter wide.
This ground-breaking research uncovers a promising new development. More than 90% of genetic variations associated with common diseases occur in these “switch” areas that regulate expression of the nearby gene. The researchers have mapped these regions with unprecedented precision, down to one pixel per nucleotide. This innovative tool now makes it possible to conduct highly detailed investigations of gene control.
From that map, we can now determine for the first time how the genome’s control switches are physically arranged inside cells! Inwardly commented Professor James Davies. He touted the importance of this visionary research. According to the study, DNA folding patterns instinctively evolve. The latter process is governed by the physical properties of DNA and its chromatin packaging proteins.
Hangpeng Li remarked, “We now have a tool that lets us study how genes are controlled in exquisite detail.” This powerful new advancement holds great promise for revealing gene regulatory logic and mechanisms underlying disease pathogenesis. The study underlines how gaps in the fragile arrangement of DNA can set off disastrous health consequences. These conditions overlap with heart disease, autoimmune and inflammatory disorders, and cancer.