Nuclear architecture: structure, function and disease

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Recently scientists have developed tools for identifying mutations in individuals with complex neuro-development disorders. Surprisingly, many of these mutations are found in proteins that have a role in fundamental cellular functions. To understand the molecular basis of these diseases, with a hope of developing new prognostic markers and potential disease treatments, it is crucial to understand how the specific proteins function in the complex environment of the cell. My team is expert in analysing how DNA is packaged inside part of a human cell called the nucleus and we hypothesise that in some individuals their disease is caused by altered packaging of DNA so it does not function correctly. However, there are many steps to this process from packaging DNA to how the DNA is read to make RNA and then how the RNA is folded and exported to other parts of the cell to make protein. In this study we will focus on one specific protein, HNRNPU, that when mutated causes learning difficulties, autism, and epilepsy. So far, our research has shown that HNRNPU interacts with another molecule in the nucleus called RNA and together they form a gel that surrounds the DNA, similar to protective cotton wool. Together this gel facilitates processes that occur on the DNA such as reading into RNA, or repairing damage to the DNA. We will study how mutations in HNRNPU alter DNA packaging and how this affects many important cellular processes and disease.