Madeline Rea
Pronouns: she/her
Research Mentor(s): Kenneth Kwan
Research Mentor School/College/Department: Michigan Neuroscience Institute / Human Genetics / Medicine
Program: UROPF
Session: Session 4 (1:40pm – 2:30pm)
Authors:
Abstract
The cerebral cortex is the part of our brain responsible for conscious thought, action, and perception. To control these capabilities, the cortex relies on precise connections and activity of neurons, which in turn can finely control gene expression. Dysregulation of these processes can contribute to developmental disorders such as schizophrenia, autism spectrum disorder, and epilepsy. To understand how these disruptions can contribute to neurodevelopmental disorders, previous work in our lab utilized conditional mouse genetics to specifically study the influence of chromatin topology in cortical neuron gene expression. Conditional deletion of Smc3, a gene which regulates chromatin topology and thus DNA organization, from developing neurons in the cortex by Neurod6Cre resulted in dysregulated expression of the transcriptome, with a significant enrichment of downregulated activity-dependent genes. Mutations, like deletion, in Smc3 are associated with Cornelia De Lange syndrome, a multi-anomaly developmental disorder with brain phenotypes. During this project, I have focused on expanding this work to other Cre lines, like Emx and Camk2a, with additional computational tools and transcriptomic analysis to better understand the impact of Smc3, chromatin topology, and RNA expression in normal brain development and disorders thereof.
