Award Date
5-1-2022
Degree Type
Thesis
Degree Name
Master of Science (MS)
Department
Life Sciences
First Committee Member
Mira Han
Second Committee Member
Kathryn Rafferty
Third Committee Member
Sean Neiswenter
Fourth Committee Member
Amei Amei
Number of Pages
122
Abstract
A genetic mutation of the Tub gene encodes a nonfunctional Tubby protein that can lead to retinal degeneration, hearing loss, and late-onset obesity in the mouse. The Tubby protein is a member of tubby-like proteins, found in many organisms. Of importance to humans is a mutation on the Tulp1 gene that has been linked to retinal degeneration. The mechanisms leading to the development of these disease phenotypes are still not clear. Tubby is a predicted transcription factor that can possibly regulate other disease-associated genes. However, expression data on genes regulated by Tubby have thus far been scarce. To bridge this gap, the current study determined the genes regulated by Tubby to gain a better understanding of how a single loss-of-function mutation led to the tubby disease phenotypes, particularly retinal degeneration. RNA sequencing was performed on retinas from 3-month old tubby and wild-type mice followed by data analysis using standard bioinformatics tools. Expression levels of select target genes were experimentally validated with RT-qPCR. We observed 2,899 significant differentially expressed genes in the tubby mouse retina. 339 genes were downregulated while 783 genes were upregulated. Amongst the most upregulated genes are those involved in the pro-inflammatory response, while notable downregulated genes are those that function in phototransduction pathways and retinal development, thus highlighting the role of the Tubby protein in the retina. These findings suggest that genes involved in maintenance of retinal health and vision are regulated by and might be direct transcriptional targets of the Tubby protein.
Controlled Subject
Retina;Mice;Mutation (Biology);Retinal degeneration
Disciplines
Bioinformatics | Biology
File Format
File Size
3300 KB
Degree Grantor
University of Nevada, Las Vegas
Language
English
Repository Citation
Van, Richard, "Global Transcriptional Profile of the Tubby Mouse Retina" (2022). UNLV Theses, Dissertations, Professional Papers, and Capstones. 4483.
http://dx.doi.org/10.34917/31813378
Rights
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