Genetics Commons^™

An Investigation Of Gene Regulatory Network State Space Variability, Sara Faye Liesman

Theses and Dissertations

Genes are segments of DNA that provide a blueprint for cells and organisms to effectively control processes and regulations within individuals. There have been many attempts to quantify these processes, as a greater understanding of how genes operate could have large impacts on both personalized and precision medicine. Gene interactions are of particular interest, however, current biological methods can not easily reveal the details of these interactions. Therefore, we infer networks of interactions from gene expression data which we call a gene regulatory network, or GRN. Due to the robust behavior of genes and the inherent variability within interactions, models …

Novel Long Non-Coding Rna Cdlinc Promotes Nsclc Progression, Christina J. Moss

USF Tampa Graduate Theses and Dissertations

Non-small cell lung cancer (NSCLC) is the leading cause of cancer death worldwide with a low 5-year survival rate of only around 21%. This low 5-year survival rate is due to two main reasons. First, NSCLC is often diagnosed at the later stages when it has already metastasized. Second, NSCLC is an incredibly diverse, heterogenous disease making it very hard to target the true molecular oncogenic drivers. New targets for personalized therapeutics are needed based on the expression status of each individual lung cancer tumor.

One way of looking for these new therapeutics is to begin by identifying the oncogenotype …

An Epistatic Interaction Between Pre-Natal Smoke Exposure And Socioeconomic Status Has A Significant Impact On Bronchodilator Drug Response In African American Youth With Asthma., J Magaña, M G Contreras, K L Keys, O Risse-Adams, P C Goddard, A M Zeiger, A C Y Mak, J R Elhawary, L A Samedy-Bates, E Lee, N Thakur, D Hu, C Eng, S Salazar, S Huntsman, T Hu, E G Burchard, M J White

Department of Medicine Faculty Papers

Background: Asthma is one of the leading chronic illnesses among children in the United States. Asthma prevalence is higher among African Americans (11.2%) compared to European Americans (7.7%). Bronchodilator medications are part of the first-line therapy, and the rescue medication, for acute asthma symptoms. Bronchodilator drug response (BDR) varies substantially among different racial/ethnic groups. Asthma prevalence in African Americans is only 3.5% higher than that of European Americans, however, asthma mortality among African Americans is four times that of European Americans; variation in BDR may play an important role in explaining this health disparity. To improve our understanding of disparate …

Inactivation Of Hippo And Cjun-N-Terminal Kinase (Jnk) Signaling Mitigate Fus Mediated Neurodegeneration In-Vivo, Ankita Sarkar, Abijeet Singh Mehta, Prajakta Deshpande, Madhuri Kango-Singh, Udai Bhan Pandey, Amit Singh

Biology Faculty Publications

Amyotrophic Lateral Sclerosis (ALS), a late-onset neurodegenerative disorder characterized by the loss of motor neurons in the central nervous system, has no known cure to-date. Disease causing mutations in human Fused in Sarcoma (FUS) leads to aggressive and juvenile onset of ALS. FUS is a well-conserved protein across different species, which plays a crucial role in regulating different aspects of RNA metabolism. Targeted misexpression of FUS in Drosophila model recapitulates several interesting phenotypes relevant to ALS including cytoplasmic mislocalization, defects at the neuromuscular junction and motor dysfunction. We screened for the genetic modifiers of human FUS-mediated neurodegenerative phenotype using molecularly …

Repression Of Tick Microrna-133 Induces Organic Anion Transporting Polypeptide Expression Critical For Anaplasma Phagocytophilumsurvival In The Vector And Transmission To The Vertebrate Host, Ellango Ramasamy, Vikas Taank, John F. Anderson, Hameeda Sultana, Girish Neelakanta

Biological Sciences Faculty Publications

The microRNAs (miRNAs) are important regulators of gene expression. In this study, we provide evidence for the first time to show that rickettsial pathogen Anaplasma phagocytophilum infection results in the down-regulation of tick microRNA-133 (miR-133), to induce Ixodes scapularis organic anion transporting polypeptide (isoatp4056) gene expression critical for this bacterial survival in the vector and for its transmission to the vertebrate host. Transfection studies with recombinant constructs containing transcriptional fusions confirmed binding of miR-133 to isoatp4056 mRNA. Treatment with miR-133 inhibitor resulted in increased bacterial burden and isoatp4056 expression in ticks and tick cells. In contrast, treatment with …

The Trauma Of Head Injury

DePaul Magazine

Thanks to the vision and leadership of Vincent de Paul Professor of Biological Sciences Dorothy Kozlowski, who has teamed with scientists and researchers across the country, DePaul is playing an instrumental role in advancing our understanding of the speci­fic causes and e‑ffects of traumatic brain injury (TBI). In collaboration with colleagues at DePaul partner institution Rosalind Franklin University of Medicine and Science, Kozlowski developed a novel animal model to study the connection between repeat concussions and long-term health problems. Some of the research includes looking at learning and memory on the cellular level for those with Alzheimer’s and TBI, and …

Elucidating The Role Of Apl-1, The C. Elegans Ortholog Of The Human Amyloid Precursor Protein, Adanna G. Alexander

Dissertations, Theses, and Capstone Projects

Alzheimer’s disease (AD) is a progressive neurodegenerative disorder, impacting approximately 6 million Americans. AD is the leading cause of dementia amongst the aged population. Post mortem analysis of the brains of AD patients shows high quantities of extracellular Aβ peptide deposits, which are derived from cleavage of the amyloid precursor protein (APP). Mutations in APP and proteins responsible for APP cleavage, PSENs, greatly increase the incidence of developing AD at an early age. Despite its strong correlation to the progression of AD, the role of APP remains unclear.

Here we investigate the role of the Caenorhabditis elegans ortholog, APL-1. We …

Probing The Limits Of Singular Gene Expression Through The Activity Of High Representation Odorant Receptor Transgenes, Eugene Lempert

Dissertations, Theses, and Capstone Projects

Singular gene expression is a common phenomenon in biology, making its appearance in immunoglobulin selection, protocadherin expression, X chromosome-inactivation, random monoallelic expression, and olfactory receptor choice. Singularity involves an activation and a feedback step. The mechanisms of singular gene choice have some capacity to integrate additional member genes while still maintaining singularity, but will activate an additional member if an earlier choice was incapable of triggering the feedback step. Odorant Receptor (OR) genes are substantially divergent from each other in terms of coding sequence, promoter structure, and genomic locus, all of which plays a role in how many Olfactory Sensory …

Elucidating The Role Of The High Aliphatic Glucosinolate ( Hag ) Genes In Pennycress ( Thlaspi Arvense L. ) Glucosinolate Production, Dalton Williams

Theses and Dissertations

Pennycress (Thlaspi arvense L.) is a Brassica species being developed into an oilseed-producing winter cash cover crop. Similar to its relatives, rapeseed (Brassica napus L.) and camelina (Camelina sativa L.), pennycress seeds produce high levels of oil and protein (~34% oil and ~19% protein dry weight). For pennycress to be economically viable and environmentally sustainable as a crop, both the oil and seed meal must be utilized. Pennycress like other Brassicaceae, produces high levels of glucosinolates in the seed coat. Glucosinolates taste bitter and can be metabolized by the enzyme, myrosinase, into toxic isothiocyanates, nitriles, and epithionitriles. Seed meal containing …

Determining The Genetic Control Of Neural Tube Malformation Through Genetic Interactions With Idgf3, Elli N. Fox

Honors Projects

Genetic mutations disrupting human neural tube formation can lead to birth defects such as spina bifida and anencephaly. Defects can result in lack of neural tube closure in either the caudal (spina bifida) or cranial (anencephaly) regions. Little is known about the genes that cause these malformations. Researchers have been using the model organism Drosophila melanogaster in an attempt to determine genes responsible for neural tube malformations. Recently, an ortholog of human chitin-like protein, imaginal disc growth factor 3 (Idgf3), has been identified as important in the proper formation of Drosophila egg dorsal appendages. However, the molecular mechanism responsible for …

The Evolution Of Bivalve Shell Matrix Proteins, Mark Ira Duhon Ii

LSU Doctoral Dissertations

This dissertation focuses on the molecular underpinnings surrounding the evolution of the biomineralized shells of marine bivalves. Bivalve molluscs synthesize remarkably complex shells from calcium carbonate and an organic matrix of proteins secreted from the dorsal edge of the mantle. Molecular analyses of shell matrix proteins (SMPs) have suggested high rates of gene turnover despite the conserved nature of the shell itself. Here, I used proteomic and transcriptomic data to identify the SMPs and other biomineralization proteins from seven bivalve species that diverged 3-513 Mya. Contrary to previous studies that identified only a few shared biomineralization transcripts across the Bivalvia, …

Sleep Modifications In A Drosophila Melanogaster Model Of Fragile X Syndrome, Morgan Mclaughlin

Undergraduate Honors Theses

Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by intellectual disabilities, disruptions in sleep, and autism in humans. Mutations in Fragile X Mental Retardation gene 1 (FMR1), which codes for a protein that modifies the expression of many target proteins, are primarily responsible for this disorder. Genetic modifications of FMR1 can increase or decrease the overall amount of sleep in humans. A potential pharmaceutical target of FXS is dopamine, a critical neurotransmitter in the regulation of sleep and wakefulness. In fruit flies (Drosophila melanogaster) dopamine has been shown to alter sleep. The mushroom body, a structure in …

Generation And Characterization Of A Rack1 Knockout Cell Line, Roy Missall

Seton Hall University Dissertations and Theses (ETDs)

The µ-opioid receptor (MOR) is an important regulator of nociception, bearing the largest role in analgesia of all opioid receptors. This function has made MOR an effective drug-target for the clinical treatment of pain. However, opioid drugs such as morphine and fentanyl are highly addictive, and prolonged abuse can be fatal due to respiratory depression. A key determinant in the cellular and systemic responses to opioids is MOR. At the transcriptional level, MOR is positively regulated by the transcription factors, including poly-C binding protein 1 (PCBP1). Using the two-hybrid screening, PCBP1 was found to interact with receptor for activated C …

The Psychosocial Effects Of Unexpected Findings On Direct To Consumer Genetic Testing, Emily Wiseman

KGI Theses and Dissertations

Direct to Consumer (DTC) genetic testing has grown in popularity since its inception in 2010. Consumers can now order DTC tests giving them more information on their ancestry, health and ethnicity than ever before. With more information and more consumers taking the tests, this has allowed for the opportunity of unexpected findings to be generated from the tests. Previous studies have shown that consumers can learn about a health risk they were previously unaware of, and this can impact the health management and surveillance practices of consumers receiving them. Additionally, studies have shown that ethnicity results can impact consumers’ previously …

Cancer Genetic Counselors’ Perceptions Of Nutritional Recommendations, Breann Reinsch

KGI Theses and Dissertations

Objective: The purpose of this research study is to understand the perspectives of genetic counselors who work with patients in the cancer setting and explore if nutrition is a consideration when counseling patients.

Background: Evidence on the influence of nutrition on cancer risk is increasing with retrospective cohort studies. The American Cancer Society states that smoking, body mass index (BMI), poor nutrition, and excess alcohol consumption are directly linked to cancer occurrences, therefore some cancers may be preventable through lifestyle changes (American Cancer Society, 2016). In cancer genetic counseling sessions, patients are often inquiring about nutritional recommendations. A majority of …

Risk Reducing Mastectomies Among Women With Mutations In Moderate Penetrance Breast Cancer Susceptibility Genes, Jacob Comeaux

KGI Theses and Dissertations

Women who harbor mutations in breast cancer susceptibility genes are at an increased lifetime risk of developing breast cancer and are faced with decisions about managing their risks, including the decision of whether to undergo a risk reducing mastectomy (RRM). While decision making for risk management has been studied extensively for BRCA1 and BRCA2 carriers, there is much less information surrounding risk management for women with mutations in moderate penetrance genes. This is a retrospective study of 280 women undergoing genetic counseling at a Los Angeles-based academic hospital between 2009 and 2019. The study used medical records to examine rates …

Which "Me" Am I Going To Be Today? Exploring Genetic Counselors' Attitudes On Expressing Their "Authentic Self" In The Workplace, Brynna Nguyenton

KGI Theses and Dissertations

While professional organizations expect their employees to adhere to a cohesive image based on the social contract of professionalism, the modern workplace is growing increasingly diverse and freedom of self-expression is challenged by these traditionally defined norms. This study seeks to define these societal expectations and their implications in the context of a rapidly changing professional landscape. Individuals portray their true identities, or “authentic selves,” through their internal beliefs and external appearance, so naturally, these expressions may contradict the expectations for their professional appearance. Previous research has investigated professionalism, authentic selfhood, and the genetic counseling profession on separate levels, but …

Identifying The Gap: Cancer Genetic Counseling And Testing For Underinsured Patients, Bailey Sanderson

KGI Theses and Dissertations

Background: Health care costs have increased faster than Consumer Price Index leading to patients weighing their options of medical treatment and services. One such service, genetic counseling, has grown 20% annually, in part due to the increased demand of genetic testing. Oncology care is one need for testing because 5-15% of all cancer diagnoses in the United States are inherited. Due to the fact that the Affordable Care Act does not cover all genetic counseling testing needs, and ethnic minorities are less likely to seek testing due to insurance coverage and costs, an increased effort is needed to reach …

Identification Of Clinically-Relevant Sequence Variants Within The Human Reference Genome, Lisa A. Lansdon

Research Days

No abstract provided.

Use Of Embark Database And An Active Learning Protocol In A High School Classroom, Landon Goodreau

Honors Theses

With advances in technology, personal genome sequencing has become more affordable than ever before. With this wealth of genetic information come new individualized approaches to medicine and pharmacology, along with moral, legal, and ethical issues to carefully consider. Yet studies suggest that most members of the general public do not have the genetic literacy required to understand the implications of genomic data. It is important that today’s students are able to grasp concepts relating to their own genome to make informed medical decisions in the future. Here I describe an active learning-based activity designed to enhance high school students’ understanding …