A collaboration between researchers at the Babraham Institute and at the University of Manchester, both in the UK, has mapped the physical connections occurring in the genome to shed light on the parts of the genome involved in autoimmune diseases. Using a new technique, called Capture Hi-C, the team revealed novel insights into how changes in the genetic sequence can have a biological effect and increase the risk of disease. This new work was published online on November 30, 2015, in an open-access article in Nature Communications. The article is titled “Capture Hi-C Reveals Novel Candidate Genes and Complex Long-Range Interactions with Related Autoimmune Risk Loci.” The Human Genome Project provided much of the human DNA code and large population studies have since identified DNA sequence changes that are associated with a wide range of diseases, such as cancer, cardiovascular disease, and immune system disease. Because many of these changes fall outside the parts of the genome that contain protein-coding genes, understanding the biological relevance of the genetic change was akin to the party game ‘pin the tail on the donkey’ when it came to identifying the genes that these regions associated with. Understanding these associations represents the key to uncovering the causal genetic factors of disease. The new technique developed by researchers at the Babraham Institute identified a way to “freeze-frame” the genome and capture its three-dimensional conformation where the DNA folds to bring seemingly distant regions into close contact. This “snapshot” pinpoints where non-coding regulatory regions contact the genes that they control, often over large genomic distances.
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