Molecular effects of the 15q13.3 microdeletion in an induced pluripotent stem cell model
Abstract/Contents
- Abstract
- The 15q13.3 microdeletion is associated with several neuropsychiatric disorders, including intellectual disability, epilepsy, autism, and schizophrenia. Previous association and functional studies have investigated the potential role of several genes within the deletion in neuronal dysfunction, but the molecular effects of the deletion as a whole remain largely unknown. In this dissertation, I explore the effects of the 15q13.3 microdeletion on genome-wide gene expression, DNA methylation, and chromatin accessibility. Chapter 1 provides an introduction to the genetics of neuropsychiatric disorders and the 15q13.3 microdeletion syndrome. Chapter 2 describes the generation and immunohistochemical characterization of induced pluripotent stem cells and induced neurons from patients with the 15q13.3 microdeletion. Chapter 2 also discusses the impact of the 15q13.3 microdeletion on gene expression and sensitivity to cisplatin-induced DNA damage. Chapter 3 addresses the effects of the 15q13.3 microdeletion on the epigenome. Chapter 4 focuses on the transcriptome-wide effects of CRISPR-Cas9 knockouts of single genes in the 15q13.3 microdeletion. Chapter 5 describes the conclusions of this thesis and future directions
Description
| Type of resource | text |
|---|---|
| Form | electronic resource; remote; computer; online resource |
| Extent | 1 online resource |
| Place | California |
| Place | [Stanford, California] |
| Publisher | [Stanford University] |
| Copyright date | 2020; ©2020 |
| Publication date | 2020; 2020 |
| Issuance | monographic |
| Language | English |
Creators/Contributors
| Author | Zhang, Siming |
|---|---|
| Degree supervisor | Urban, Alexander E |
| Thesis advisor | Urban, Alexander E |
| Thesis advisor | Bassik, Michael |
| Thesis advisor | Montgomery, Stephen, 1979- |
| Thesis advisor | Pritchard, Jonathan D |
| Degree committee member | Bassik, Michael |
| Degree committee member | Montgomery, Stephen, 1979- |
| Degree committee member | Pritchard, Jonathan D |
| Associated with | Stanford University, Department of Genetics. |
Subjects
| Genre | Theses |
|---|---|
| Genre | Text |
Bibliographic information
| Statement of responsibility | Siming Zhang |
|---|---|
| Note | Submitted to the Department of Genetics |
| Thesis | Thesis Ph.D. Stanford University 2020 |
| Location | electronic resource |
Access conditions
- Copyright
- © 2020 by Siming Zhang
- License
- This work is licensed under a Creative Commons Attribution Non Commercial 3.0 Unported license (CC BY-NC).
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