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When reading genes, read the instructions first: Epigenetics and developmental disorders

The genome holds the instructions for making proteins, while the epigenome holds the instructions for reading the genes. Yang Shi wants to understand how those epigenetic instructions are read, especially in cases of intellectual disabilities. (JackBet/Flickr)

While the genome’s As, Ts, Cs, and Gs hold the instructions for making proteins, how does a cell know when to read a gene? And could it relate to developmental disorders?

These gene-reading instructions are encoded in our epigenome, a set of factors that give our cells exquisite control over when and where to turn individual genes on and off. This control involves a delicate and complex dance between DNA and proteins called histones – DNA wraps itself around histones to create a complex called chromatin – as well as the many different types of epigenetic tags.

Yang Shi, of the Division of Newborn Medicine at Children’s Hospital Boston, wants to understand what happens when the genome doesn’t read the epigenome’s instructions correctly, which in the developing brain can cause intellectual disabilities.

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