Identifying the Role of Transcription Factor RFX3 in 9PDeletion Syndrome
Name
edwards-lillyk-meng-eecs-2025-thesis.pdf
Description
Thesis PDF
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3.42 MB
Format
Adobe PDF
Checksum (MD5)
b74ae0dfe58eaebfe50f553cc15b218d
Author(s)
Edwards, Lilly
Advisor(s)
Yu, Timothy
Lee, Eunjung Alice
Kellis, Manolis
Date Issued
February 2025
Publisher
Massachusetts Institute of Technology
Abstract
9p deletion (9p-) syndrome is primarily characterized by intellectual disability, developmental delays, and autism. This project investigated how much of the neuronal phenotypes of 9p- syndrome could be attributed to RFX3, a transcription factor and autism risk gene. Bulk RNA-seq data of iPSC-derived neurons from patients with 9p- syndrome and CRISPRengineered cell lines was analyzed using Principal Component Analysis, Differential Gene Expression analysis, and Functional Enrichment analysis. The findings indicate that RFX3 plays a significant role but is not the sole driver of the neuronal phenotypes. SMARCA2, a gene linked to intellectual disability and part of the SWI/SNF complex, was identified as a direct target of RFX3 in the commonly deleted region of chromosome 9p. Notably, the combined deletion of RFX3 and SMARCA2 led to greater dysregulation of SMARCA2 expression and SWI/SNF complex components than the deletion of either gene alone. These findings highlight the potential synergistic effects of RFX3 and SMARCA2 in 9p- syndrome and suggest their combined disruption may underlie the neuronal phenotypes observed.
MIT Department
Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
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