Scientists find missing link regarding epigenetic code

Over the last two decades, scientists have come to understand that the genetic code held within DNA represents only part of the blueprint of life. The rest comes from specific patterns of chemical tags that overlay the DNA structure, determining how tightly the DNA is packaged and how accessible certain genes are to be switched on or off.

As researchers have uncovered more and more of these “epigenetic” tags, they have begun to wonder how they are all connected. Now, research from the University of North Carolina School of Medicine has established the first link between the two most fundamental epigenetic tags—histone modification and DNA methylation—in humans.

The study, which was published Sept. 30, 2012 by the journal Nature Structural & Molecular Biology, implicates a protein called UHRF1 in the maintenance of these epigenetic tags. Because the protein has been found to be defective in cancer, the finding could help scientists understand not only how microscopic chemical changes can ultimately affect the epigenetic landscape but also give clues to the underlying causes of disease and cancer.

“There’s always been the suspicion that regions marked by DNA methylation might be connected to other epigenetic tags like histone modifications, and that has even been shown to be true in model organisms like fungus and plants,” said senior study author Brian Strahl, PhD, associate professor of biochemistry and biophysics in the UNC School of Medicine and a member of UNC Lineberger Comprehensive Cancer Center. “But no one has been able to make that leap in human cells. It’s been controversial in terms of whether or not there’s really a connection. We have shown there is.” Via Scientists find missing link between players in the epigenetic code.

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