Date of Award

Spring 4-23-2024

Embargo Period

5-22-2024

Document Type

Thesis

Degree Name

Master of Biomedical Science

Department

Neuroscience

College

College of Graduate Studies

First Advisor

Stefano Berto

Second Advisor

Onder Albayram

Third Advisor

Jose Ledo

Fourth Advisor

Patrick Mulholland

Fifth Advisor

Estefania Pereira Cardoso Azevedo

Sixth Advisor

Makoto Taniguchi

Abstract

Chromosome alignment maintaining phosphoprotein 1(CHAMP1) is a gene that encodes a zinc finger protein that is involved in in the maintenance of kinetochore-microtubule attachment and regulating chromosome segregation in mitosis. (Itoh et al., 2011) CHAMP1 mutations have been shown to be major risk factors for neurodevelopmental disorders (NDDs) and autism spectrum disorder (ASD).(Asakura et al., 2021; Isidor et al., 2016; Levy et al., 2022) Although there is information on the link between CHAMP1 mutations and NDD, the role of CHAMP1 in regulating processes of human cortical development, namely, neurogenesis, proliferation, and electrophysiological properties of newly born neurons, is unknown. This study aimed to investigate the cell type trajectory of CHAMP1 during early stages of human brain development. We hypothesized that CHAMP1 plays a key role in the early stage of human brain development, and we expected CHAMP1 expression to be highly enriched in apical radial glia (aRG) and other proliferative cell types such as outer/basal radial glia (oRG). We also hypothesized that CHAMP1, POGZ, and REV7 are co-expressed. This will be investigated, by using and integrating human forebrain organoids (Uzquiano et al., 2022) and fetal brain tissue (Herring et al., 2022) development single cell omic datasets. We found that CHAMP1 is expressed in aRG as well as other early proliferative cell types. We found that CHAMP1, POGZ, and MAD2L2 follow similar expression patterns via expression plots and percentage of number of cells of the expressed genes.

Rights

Copyright is held by the author. All rights reserved.

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