A hidden world inside DNA is finally revealed
DNA doesn’t just sit still inside our cells — it folds, loops, and rearranges in ways that shape how genes behave. Researchers have now mapped this hidden architecture in unprecedented detail, showing how genome structure changes from cell to cell and over time. These insights reveal why many disease-linked mutations outside genes can still cause harm. The findings could speed up the discovery of genetic risks and inspire new ways to target diseases.
Scientists have created the most detailed maps yet of how human DNA folds, loops, and shifts inside living cells -- revealing a hidden layer of genetic control.
- Offers a sweeping new look at how genes interact, fold, and shift position as cells grow, function, and divide
- May speed the discovery of disease causing genetic mutations and uncover hidden mechanisms behind inherited disorders
- Researchers hope the tools will eventually reveal how errors in genome folding contribute to cancer, developmental disorders, and other diseases
In a major step toward understanding how DNA structure shapes human biology, scientists at Northwestern University working with the 4D Nucleome Project have produced the most detailed maps yet of how the human genome is organized in three dimensions and how that organization changes over time. The research, published in Nature, provides a new window into how DNA operates inside living cells.
The team created these maps using human embryonic stem cells and fibroblasts. Together, the data offer a broad look at how genes interact, fold, and shift positions as cells carry out their normal functions and divide, said co-corresponding author Feng Yue, the Duane and Susan Burnham Professor of Molecular Medicine in the department of biochemistry and molecular genetics at Northwestern.
"Understanding how the genome folds and reorganizes in three dimensions is essential to understanding how cells function," Yue said. "These maps give us an unprecedented view of how genome structure helps regulate gene activity in space and time."
DNA Structure Shapes Gene Activity
DNA inside the cell does not exist as a straight, linear strand. Instead, it bends into loops and forms distinct compartments within the cell nucleus. These physical arrangements help control which genes are switched on or off, influencing development, cell identity, and the risk of disease.
To capture this complexity, Yue and collaborators from around the world combined multiple advanced genomic techniques. By applying these tools to both fibroblasts and human embryonic stem cells, the researchers assembled a unified and highly detailed dataset that captures genome organization from multiple angles.
What the New Genome Maps Reveal
The analysis uncovered several major features of genome architecture:
- More than 140,000 chromatin loops in each cell type, along with the specific elements that anchor those loops and their role in regulating genes
- Detailed classifications of chromosomal domains and their positions within the nucleus
- High-resolution 3D models of entire genomes at the single-cell level, showing how individual genes are arranged relative to nearby genes and regulatory regions