Discoveries

All the cells in an organism have the exact same genetic sequence. What differs across cell types is their epigenetics, meticulously placed chemical tags that influence which genes are expressed in each cell. Mistakes or failures in epigenetic regulation can lead to severe developmental defects. This creates a puzzling question: If epigenetic changes regulate our genetics, what is regulating them? 

Salk scientists, led by biochemist Julie Law, PhD, used plant cells to discover that a type of epigenetic tag called DNA methylation can be regulated by genetic mechanisms. Prior to this study, scientists understood only how DNA methylation could be initiated by other preexisting epigenetic modifications, which didn’t explain how novel methylation patterns could arise. The discovery that the DNA itself can instruct new methylation patterns is a major paradigm shift and helps explain how a cell can modify its epigenetics to grow, respond, and recover. The findings could inform future bioengineering strategies for altering methylation patterns to repair or enhance specific cell functions, with many potential applications in medicine and agriculture. 

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How does our DNA store the massive amount of information needed to build a human being? And what happens when it’s stored incorrectly? Jesse Dixon, MD, PhD, has spent years studying the way this genome is folded in 3D space, knowing that dysfunctional folding can cause cancers and developmental disorders, including autism-related disorders. 

New research from Dixon’s lab adds to a growing understanding that the genome’s 3D organization is constantly in flux. Using different types of human cells, the lab showed that this dynamic genome unfolding and refolding process occurs at different rates in different parts of the genome, which, in turn, influences gene regulation and expression. The findings may point to targets for blocking the dysfunctional folding that leads to cancers and developmental disorders. 

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