Abstract

Autism is a mental disorder in which multiple genes are involved in the development of its various symptoms. However, as a result of the challenges inherent to identifying the responsible genes, many studies are ongoing and inconclusive. 1 To date, studies have shown that two genes, BAG3 and PALLD, were upregulated in autistic individuals. 2–6 BAG3 encodes BAG cochaperone 3 32; while PALLD encodes Palladin, Cytoskeletal Associated Protein 33. This project analyzed the similarities and differences between the human BAG3 and PALLD genes and those in various model organisms. While it is likely that epigenetic modifications affect the expression and activity of these genes, they were not a focus of this work due to the paucity of prior research. 7–11 It is hypothesized that there is a model organism best suited for studying BAG3 and/or PALLD for a better understanding of its role in human autism. Comparisons were performed using a variety of bioinformatics tools in order to identify mRNA variants in model organisms. The most similar variants of BAG3 and PALLD were then assessed for the significance of these variations on the predicted structure and expression of the encoded protein. Finally, the same variants’ regulatory regions were predicted and compared in order to identify similarities and differences found upstream of the BAG3 and PALLD genes. The findings of this study suggest that the BAG3 and PALLD protein structures from the model organisms dog and rat are sufficiently similar compared to those in humans so they can be used to better understand the genes in humans diagnosed with autism. Furthermore, there are similarities in the regulatory regions predicted for select model organisms. However, these regulatory regions are in areas where there is very little known and therefore where future research into these genes’ effect on autism should be focused. The results from this work provide guidance as well as evidence justifying the need for future research and experimental manipulation of BAG3 and PALLD in these model organisms.

Library of Congress Subject Headings

Autism--Genetic aspects; Genomics

Publication Date

8-11-2022

Document Type

Thesis

Student Type

Graduate

Degree Name

Bioinformatics (MS)

Department, Program, or Center

Thomas H. Gosnell School of Life Sciences (COS)

Advisor

Gary R. Skuse

Advisor/Committee Member

Andre O. Hudson

Advisor/Committee Member

Julie A. Thomas

Campus

RIT – Main Campus

Plan Codes

BIOINFO-MS

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