Histone modification dynamics in the brain
Our primary research goal is to understand how the dynamic regulation of chromatin, the DNA-containing macromolecule, engages in brain development and function. The results of our studies will likely provide an important foundation for future treatments of cognitive disorders, such as intellectual disabilities and autism spectrum disorders. We are located within the Dept. of Human Genetics at the University of Michigan, Ann Arbor.
New research paper published
The article is part of Christina's thesis work characterizing KDM5C in the brain. We report a novel variant in KDM5C in a young male with autism & intellectual disability. The variant does not have an impact on enzymatic activity nor protein stability. However, when overexpressed in post-mitotic neurons, the mutant KDM5C failed to fully suppress expression of target genes, and also affected expression of a distinct set of genes compared to wildtype KDM5C. These results suggest that KDM5C may have non-enzymatic roles in gene regulation, and alteration of these roles contributes to the phenotypes in this patient.