The impact of repetitive DNA and its guardian proteins on the evolution of neuronal gene regulatory networks

This thesis aims to further our understanding of the human genome, especially regarding the function of non-coding and regulatory DNA and the role these genomic elements and factors play in gene regulation and speciation. We focus on the KRAB zinc finger gene family (KZNF), specifically looking at the impact these genes had upon gene regulatory networks after their emergence in primate and human genomes.
We show that KZNF-mediated regulation can influence gene expression in human neurons and we suggest that gene regulation through KZNFs may have helped shape the human brain over evolutionary time. This work also explores the role of KZNFs and other factors as regulators of simple repeats, including repeats implicated in repeat expansion disorders. This research contributes to both the fields of evolutionary neurogenomics and simple repeat expansion disorders and provides insight into the impact that novel regulatory elements can have upon gene regulatory networks.