3D DNA mapping in rare immune cells reveals new genes linked with autoimmune disease risk
Our DNA is often pictured as a simple spiral, like a piece of rope held taut. But inside cells, it folds into a complex three-dimensional structure, with 2 meters (6.6 feet) of DNA scrunched like a headphone wire in a pocket. This bundled architecture plays a crucial role in how genes are switched on and off. Understanding these interactions is key to interpreting genetic studies of disease and…
Researchers have used cutting-edge technology to map the 3D folding of DNA in rare immune cells, potentially uncovering new genes linked with autoimmune diseases such as Crohn's disease. In their study published in Nature Genetics, a team led by Dr. Mikhail Spivakov investigated the architecture of DNA in ILC3s, which play a role in inflammation and tissue repair at barrier tissues like the gut and are associated with autoimmune conditions.
Traditional genome-wide association studies have linked many genetic variants to complex diseases within enhancers, which are regions of DNA that regulate gene activity but can be far from the genes they control. By developing a mini-Capture Hi-C technique that requires fewer cells, the team was able to analyze the 3D interactions between enhancers and genes in ILC3s.
This revealed over 100 genes potentially impacted by enhancer variants that raise Crohn's disease risk, with many of these genes previously not linked to the condition. Among these are genes like CLN3, which is typically associated with a neurological disorder. The findings provide insights into how subtle genetic differences can alter immune cell behavior and contribute to disease, potentially paving the way for targeted treatments by targeting these molecular mechanisms.
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