Nucleic acid binding by ZC4H2

Awardee: Daniel Dominguez, PhD

Institution: UNC at Chapel Hill

Award Amount: $50,000

Funding Period: January 1, 2021 - December 31, 2021


Summary:

Mutations or genetic rearrangements in the protein, ZC4H2, cause a group of X-linked neurodevelopmental disorders for which there are no treatments. While the importance of this protein is clear, the specific function of ZC4H2 is still unknown. ZC4H2 is predicted to be a zinc-finger protein. We hypothesize that like many other zinc-finger proteins, ZC4H2 directly binds DNA or RNA, and functions to regulate gene expression programs required for normal development. Our goal is to determine if ZC4H2 interacts with nucleic acids and to identify specific genes and/or gene expression pathways that become dysfunctional when ZC4H2 is mutated. Patients suffering from ZC4H2-associated rare disorders have little recourse; understanding the biological function of this protein is a critical and necessary first step to uncover potential therapeutic approaches. 

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Studies on ZC4H2 to help better understand the pathophysiology of ZARD

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Characterization and correction of Cdkl5 nuclear function in human CDD neurons during maturation