Date of Award
Spring 2025
Degree Type
Thesis
Department
Statistics
Director of Thesis
Dr. Yen-Yi Ho
Second Reader
Dr. Christian O'Reilly
Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that has been associated with several genetic factors. One of these factors is a mutation of the 16p11.2 region on chromosome 16, in which both deletions and duplications have been strongly associated with ASD. KCTD13 is a gene in the 16p11.2 gene locus that has recently been shown to influence brain development and is also associated with ASD. This study analyzes the differential gene expression and gene pathways of these different phenotypes. KCTD13 deletion had a significant up-regulation effect on genes and shares similar pathways to the 16p11.2 duplication mutation. Mutations in the 16p11.2 region affected pathways were related to ribosomal activity and composition.
First Page
1
Last Page
18
Recommended Citation
Patacsil, Joseph, "Differential Gene Coexpression in 16p11.2 Autism Spectrum Disorder" (2025). Senior Theses. 806.
https://scholarcommons.sc.edu/senior_theses/806
Rights
© 2025, Joseph Patacsil