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Theses/Dissertations

Life Sciences

Gene expression

Legacy Theses & Dissertations (2009 - 2024)

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Bioinformatics Analysis Of The Transcriptomic Profiles Of Duchenne Muscular Dystrophy Patients / Narrative Competence And Cognitive Mapping As A Culturally Sustaining Pedagogy In The Education Of Emergent Bilinguals, Bianca Gonzalez May 2022

Bioinformatics Analysis Of The Transcriptomic Profiles Of Duchenne Muscular Dystrophy Patients / Narrative Competence And Cognitive Mapping As A Culturally Sustaining Pedagogy In The Education Of Emergent Bilinguals, Bianca Gonzalez

Legacy Theses & Dissertations (2009 - 2024)

Duchenne Muscular Dystrophy (DMD) is a muscle-wasting disease that primarily affects boys characterized by loss of the dystrophin gene. Dystrophin is necessary for proper muscle growth, muscles that lack dystrophin are more prone to damage. In this thesis, a bioinformatics approach was used to evaluate the transcriptomic profiles of two datasets obtained from DMD patients. The two datasets were analyzed separately, as well as combined to identify differentially expressed genes. The first dataset, GSE6011, has 23 DMD samples and 14 controls. The second, GSE38417, consists of 16 DMD samples and six controls. Differential gene expression of both datasets combined found …


Cis-Acting Super-Enhancer Lncrnas As Biomarkers To Early-Stage Breast Cancer, Ali Salman Ropri Apr 2022

Cis-Acting Super-Enhancer Lncrnas As Biomarkers To Early-Stage Breast Cancer, Ali Salman Ropri

Legacy Theses & Dissertations (2009 - 2024)

Abstract


Genetic Regulation Within Cellular Stress Response Pathways, Jhos M. Dufflart Jan 2022

Genetic Regulation Within Cellular Stress Response Pathways, Jhos M. Dufflart

Legacy Theses & Dissertations (2009 - 2024)

Cellular stress is something that a cell deals with on a regular basis. Fortunately, there are several different mechanisms that are set in place in order to deal with them. Depending on the stress present in the cell there will be different stress response pathways that are activated in order to mitigate the stress or initiate cellular death mechanisms. Transcription factors (TFs) are key components within these pathways, and this will be the focus of this thesis. TFs within mammalian stress response pathways are tasked with the essential regulation of multiple genes within these pathways and are oftentimes linked with …


Identification Of Ires Activity In Cellular Mrnas And Viral Rna Using A Circular Rna Construct, Priyanka Sehta Jan 2021

Identification Of Ires Activity In Cellular Mrnas And Viral Rna Using A Circular Rna Construct, Priyanka Sehta

Legacy Theses & Dissertations (2009 - 2024)

Translation initiation is a critical step in the process of protein synthesis. The canonical way of translation initiation involves ribosomes being recruited to the 7-methyl guanosine cap present at the 5’end of the untranslated region (5’ UTR) of the RNAs. However, viral RNAs and some cellular mRNAs lack this 5’ cap structure and thus deploy an alternate non-canonical translation initiation mechanism. In non-canonical translation initiation, ribosome recruitment is facilitated by the RNA secondary structures called Internal Ribosome Entry Site (IRES) present most often in the 5’ UTR. To measure IRES-mediated translation, the dual luciferase assay has been the gold standard. …


A Gene Expression Profile Associated With Successful Cns Axon Regeneration In Xenopus Laevis, Jamie L. Belrose Dec 2020

A Gene Expression Profile Associated With Successful Cns Axon Regeneration In Xenopus Laevis, Jamie L. Belrose

Legacy Theses & Dissertations (2009 - 2024)

Background: The South African claw-toed frog, Xenopus laevis, is uniquely suited for studying differences between regenerative and non-regenerative responses to CNS injury within the same organism, because some CNS neurons (e.g., retinal ganglion cells after optic nerve crush (ONC)) regenerate axons throughout life, whereas others (e.g., hindbrain neurons after spinal cord injury (SCI)) lose this capacity as tadpoles metamorphose into frogs. Tissues from these CNS regions (frog ONC eye, tadpole SCI hindbrain, frog SCI hindbrain) were used in a three-way RNA-seq study of axotomized CNS axons to identify potential core gene expression programs for successful CNS axon regeneration.


The Role Of Progesterone Receptor In The Postnatal Development Of The Dentate Gyrus And Episodic-Like Memory, Andrew James Newell Jan 2020

The Role Of Progesterone Receptor In The Postnatal Development Of The Dentate Gyrus And Episodic-Like Memory, Andrew James Newell

Legacy Theses & Dissertations (2009 - 2024)

The hippocampus is a critical structure for the encoding and retrieval of declarative memories in humans, including episodic-memories. In rodents the steroid hormone receptor progesterone receptor (PR) is expressed in the dentate gyrus (DG) of the hippocampus during the postnatal period, a key stage in development of DG cytoarchitecture and connectivity. During the first postnatal week, the main cortical input to the hippocampal circuit, the perforant path, innervates the molecular layer (MOL) of the DG and forms temporary initial synaptic connections with pioneer neurons. By the third postnatal week, long-term synapses have been established with granule cells, the principle neurons …


The Guardian Of The Genome : Regulation Of The Enhancer Networks Governing The P53-Mediated Stress Response, Allison Catizone Jan 2020

The Guardian Of The Genome : Regulation Of The Enhancer Networks Governing The P53-Mediated Stress Response, Allison Catizone

Legacy Theses & Dissertations (2009 - 2024)

After fertilization in vertebrates, cells work to build organs, tissues and begin to rapidly differentiate and proliferate. This process is the orchestration of finely tuned signals and perfectly timed gene expression patterns. The first step in gene expression, transcription, is governed by proteins known as transcription factors (TF). TFs are responsible for binding to DNA, altering chromatin structure, and driving activation of other genes based on the organism’s needs. Once the process of development is complete, organisms shift their resources to maintaining homeostasis. Humans regularly encounter outside stressors such as UV radiation, pollution, allergens, and drugs. Cells also accumulate mutations …


Group Ii Introns : Evolution, Structure And Function, Xiaolong Dong Jan 2020

Group Ii Introns : Evolution, Structure And Function, Xiaolong Dong

Legacy Theses & Dissertations (2009 - 2024)

Group II introns are mobile, self-splicing ribozymes found in bacteria, archaea and eukaryotic organelles. They are widely believed to be the progenitors of the eukaryotic spliceosomal introns and retroelements. Yet many structural and evolutionary aspects of group II introns remain elusive. Indeed, while group II introns are the putative forerunners of spliceosomal introns in eukaryotes, they are notably absent in the nuclear genomes and a large portion of prokaryotes. Furthermore, although the architecture of a post-catalytic group II intron holoenzyme containing both the RNA and the bound intron encoded protein (IEP) has been solved by cryo-electron microscopy (cryo-EM), the interactions …


Post-Translational Modifications And Functional Studies Of Dksa In Escherichia Coli, Andrew Charles Isidoridy Jan 2019

Post-Translational Modifications And Functional Studies Of Dksa In Escherichia Coli, Andrew Charles Isidoridy

Legacy Theses & Dissertations (2009 - 2024)

DksA is a bacterial gene regulator that functions synergistically with the stress alarmone ppGpp to mediate the stringent response. DksA also functions independently of ppGpp to regulate transcription of a number of genes. DksA function is dependent on its binding affinity to RNA polymerase and requires specific interactions between RNAP and catalytic amino acids located on the coiled coil tip, D74 and A76. While much of the previous work on DksA has focused on understanding the mechanisms of action and the numerous gene targets for transcriptional regulation, little is known about the mechanisms by which DksA expression and function may …


Transcriptional Regulation Of Dksa In E. Coli, Daniel Thomas Woods Jan 2019

Transcriptional Regulation Of Dksa In E. Coli, Daniel Thomas Woods

Legacy Theses & Dissertations (2009 - 2024)

DksA is a global transcription factor that binds RNAP directly to regulate the expression of many genes and operons, including ribosomal RNA, in a ppGpp-dependent or ppGpp–independent manner. It is also involved in facilitating the process of DNA replication by removing stalled transcription elongation complexes that could block the progress of the replication fork. In addition, DksA is important for colonization, establishment of biofilms, and pathogenesis. In order to sustain these various functions, an adequate level of cellular DksA is required. This work tested the hypothesis that the E. coli dksA is substantially regulated at the level of transcription. Using …


Circular Rna : A Review Of History, Diseases, And Diagnostic Potential, Daniel Conley Jan 2018

Circular Rna : A Review Of History, Diseases, And Diagnostic Potential, Daniel Conley

Legacy Theses & Dissertations (2009 - 2024)

Abstract


The Role Of N-Myc Downstream Regulated Gene 1 In Breast Cancer Lipid Metabolism, Christopher James Sevinsky Jan 2017

The Role Of N-Myc Downstream Regulated Gene 1 In Breast Cancer Lipid Metabolism, Christopher James Sevinsky

Legacy Theses & Dissertations (2009 - 2024)

Altered carbohydrate and lipid metabolism are increasingly well characterized hallmarks of aggressive breast cancers. While aerobic glycolysis, or “the Warburg effect”, is a well-established metabolic adaptation exploited by tumor cells, the understanding of unique aspects of cancer lipid metabolism lags behind. This is especially true regarding the coordination of complex lipid synthesis and trafficking pathways, which remains poorly understood. N-Myc Downstream Regulated Gene1 (NDRG1) is overexpressed in many solid tumors, but its function is unclear. The importance of NDRG1 is best exemplified by the effect of null mutations on human physiology: inactivating mutations give rise to the severe autosomal recessive …


A Genetic Epidemiologic Investigation Of Breast Cancer Susceptibility, Cristy Ellen Stagnar Jan 2015

A Genetic Epidemiologic Investigation Of Breast Cancer Susceptibility, Cristy Ellen Stagnar

Legacy Theses & Dissertations (2009 - 2024)

Introduction


A Novel Method For Studying Gene Regulatory Elements In Vivo Reveals Essential Roles For Intron Splicing In Neurofilament Gene Expression, Chen Wang Jan 2015

A Novel Method For Studying Gene Regulatory Elements In Vivo Reveals Essential Roles For Intron Splicing In Neurofilament Gene Expression, Chen Wang

Legacy Theses & Dissertations (2009 - 2024)

Axon outgrowth requires coordinated expression of critical cytoskeletal genes in response to extracellular cues. The spatial and temporal expression of these genes is regulated transcriptionally and posttranscriptionally. Such regulation is largely mediated through the activity of cis-regulatory elements within the cytoskeletal DNAs and RNAs, which recruit specific sets of trans-factors such as DNA- and RNA-binding proteins, as well as microRNAs. To identify the functionally active cis-elements, characterize their dynamically changing sets of trans-factors, and investigate the association between the two sets of regulators in the context of an intact developing nervous system, one needs to combine appropriate in vivo strategies …


Gld-1 Represses Its Puf Mrna Targets Prior To/At Initiation Of Translation In The C.Elegans Germline, Gautham Sarathy Jan 2012

Gld-1 Represses Its Puf Mrna Targets Prior To/At Initiation Of Translation In The C.Elegans Germline, Gautham Sarathy

Legacy Theses & Dissertations (2009 - 2024)

The C.elegans germline offers an ideal system to study posttranscriptional regulation of gene expression as it is a major mechanism through which the control over gene expression is achieved. GLD-1 (defective in GermLine Development) is a maxi-KH motif containing RNA binding protein that controls various aspects of germline development from decision over germcell proliferation vs. meiotic entry to the production of mature gametes suggesting that GLD-1 likely controls many mRNA targets.


Gene And Environment Interactions Modulate Immune System Influences On Social Behavior, Yubin Zhang Jan 2011

Gene And Environment Interactions Modulate Immune System Influences On Social Behavior, Yubin Zhang

Legacy Theses & Dissertations (2009 - 2024)

Autism is a neurodevelopmental disorder with unknown etiology, affecting about 1 in 110 children in the US. Here, we show that developmental exposure to anti-brain Abs impaired mouse social behaviors. BTBR mice, a mouse strain with high serum anti-brain Abs and behaviors that resemble autism, have more activated splenic B cells, CD4+ T cells (Th1, Th2 and Th17 subsets), and CD4+ T cells with expression of Vb6 chains than B6 mice (the control H-2 identical strain). Elevated numbers of activated (CD25+) CD4+Vb6+ cells also were detected in thymic preparations. All of the immunological and behavioral parameters of BTBR mice were …


Genetic And Non-Genetic Factors That Cause Inter-Individual Variations In Cyp2a13 Gene Expression, Hong Wu Jan 2009

Genetic And Non-Genetic Factors That Cause Inter-Individual Variations In Cyp2a13 Gene Expression, Hong Wu

Legacy Theses & Dissertations (2009 - 2024)

The overall goal of this dissertation is to investigate the mechanisms underlying the large interindividual variations in susceptibility to lung carcinogenesis. We focused on CYP2A13, a respiratory tract-specifically expressed enzyme, which is the most efficient P450 towards bioactivation of a tobacco-related carcinogen 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK). The expression level of CYP2A13 varies substantially among human lung samples. Our central hypothesis is that CYP2A13 expression level is affected by both genetic regulators and non-genetic factors. The specific aims are 1) to identify the mechanisms underlying the decreased allelic expression of a CYP2A13 allele (7520C>G); 2) to identify frequent single-nucleotide polymorphisms (SNPs), associated …