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Reports Of Autosomal Recessive Disease And Consanguineous Mating Within The Human Population, Johnathon L. Schluter

Master's Theses

It is anecdotally evident when investigating published reports of autosomal recessive disease that a substantial number of cases are the result of related (consanguineous) mating. This research seeks to quantify the percent of manuscripts describing autosomal recessive diseases published between 2000 and 2020 in which consanguineous mating is indicated. We analyzed 602 peer-reviewed manuscripts to identify the percentage of cases presented in which consanguineous mating was indicated, the underlying genes (novel gene or new mutation) and geographical region. These papers were accessed through a specific set of parameters on the free access PubMed Central (PMC) database. A total of 552 …

The Stability Of Epigenetic Variants That Can Act As Loci Causing Phenotypic Change, Raul Faburrieta

Biology Theses

Epigenetic variations are a possible source of heritable phenotypic variation. In this study I focus on phenotypic alterations seen in epigenetic Recombinant Inbred Lines (epiRILs) of Arabidopsis thaliana. These epiRILs allow me to study the effects differentially methylated regions (DMRs) have on phenotypic variance. In a study performed in 2014 by Cortijo et al., they found that DMR’s affect flowering time and root length when grown under greenhouse conditions. In this study, I replicated the Cortijo et al. (2014) study, with some changes, to see whether the same significant eQTL regions are found. I found that, some of the eQTLs …

Screen For Beneficial Genetic And Chemical Modifiers In Drosophila Models Of Als And Traumatic Brain Injury, Will Bonderer

Biological Sciences Theses and Dissertations

The underlying molecular processes of aberrant protein expression in neurodegeneration are intricate and multifaceted, with ribosome-associated quality control (RQC) emerging as a promising avenue of exploration. Ribosome-associated quality control is integral to cellular function. Its evolutionarily conserved pathway encompasses a network of mechanisms designed to ensure the fidelity of protein synthesis, folding, and degradation within the cells of all eukaryotes. The ribosome, central to protein synthesis, plays a pivotal role in this quality control network, and its malfunction can lead to the accumulation of misfolded or aberrant proteins. In the context of neurodegenerative disorders, this dysfunction can have dire consequences. …

Rnai “Flexon” Approach To Gonad Gene Knockdown In C. Elegans, Sofia Suzanne Douglas

Undergraduate Theses

All living things require some form of genetic regulation so that gene products are correctly produced and maintained. One significant form of post-transcriptional gene expression is RNA silencing, a biological mechanism in which double stranded RNA molecules inhibit gene expression by blocking translation of targeted mRNA molecules. Due to its extensive applications in biotechnology, it’s been adapted as an experimental technique referred to as RNAi. This technique is temporary, transient, and easy to use. A new form of RNAi, referred to as the “Flexon” technique, is a novel approach that provides a method for post-transcriptional gene regulation that allows for …

Characterizing The Role Of Pa5189 Of Pseudomonas Aeruginosa In Deletion And Overexpression Mutants, Seh Na Mellick

Theses/Capstones/Creative Projects

In the context of rising multidrug resistance in biofilm-forming pathogens like Pseudomonas aeruginosa, this study investigates the role of the understudied transcription factor PA5189 in antibiotic resistance and biofilm formation. PA5189 deletion and overexpression mutants were created in a parent P. aeruginosa strain using pEX18Tc-based recombinant suicide vectors, with genotypic verification of putative triparental conjugants achieved through restriction digestion and PCR. The study revealed that PA5189 overexpression significantly increases resistance to commonly used broad spectrum antibiotics such as ciprofloxacin and imipenem. Additionally, differential expression of PA5189 was found to notably affect biofilm formation, with variations contingent on the nutrient …

Which Vole Is Which: Dna-Based Species Identification For Wisconsin’S Three Microtus Species, Madeline Noel Opie

Theses and Dissertations

Accurate species identification is necessary to implement conservation strategies in the wild. When traditional morphology-based species identification is challenging due to phenotypic plasticity, overlapping characteristics, or the species are otherwise cryptic, DNA-based species identification may be more suitable. Of the three species of Microtus in Wisconsin, two are listed as threatened at the state level. Both M. ochrogaster and M. pinetorum have stable population levels at the national level but are along the northern edge of their ranges in Wisconsin. Small and vulnerable populations of M. ochrogaster and M. pinetorum are limited to isolated patches in the southwestern portion of …

Examining Population Structure Of Cismontane And Desert Populations Of Zebra-Tailed Lizards (Callisaurus Draconoides) Using Mitochondrial And Nuclear Intron Dna., Lauren Nicole Morrison

Electronic Theses, Projects, and Dissertations

Callisaurus draconoides, also known as the Zebra-Tailed lizard, belongs to the family Phrynosomatidae family (Pianka, et al. 1972). C. draconoides is a widespread desert lizard found western North America. In California, this species can be found in the Mojave and Colorado Deserts. There are currently several populations that reside in the San Bernardino basin on the cismontane side of the Transverse and Peninsular ranges. These mountain ranges have the potential to have isolated the cismontane populations from their typical desert ranges. In addition, geological passes have the potential to serve as migration corridor between the Deserts and cismontane regions. The …

Towards Understanding The Function Of An Ets-Like Gene In Nematostella Vectensis: Generation Of A Knockout Mutant Line And A Transgenic Reporter Line, Emily Bullock

Biological Sciences Undergraduate Honors Theses

Due to their unique phylogenic position as sister to Bilateria, Cnidaria are often credited with the utility of allowing for reconstruction of ancestral biology based on characteristics shared with bilaterians and other animals. This factor makes investigation into the nervous systems of cnidarians critical in understanding early neural evolution. Wamides, a class of neuropeptides, have been shown to play a regulatory role in life cycle transitions across many different species. The cnidarian specific Wamide neuropeptide, GLWamide, has previously been identified to play an accelerator role in the metamorphic timing of a specific species of sea anemone, Nematostella vectensis. However, …

Pollen-Specific Expression Of Ecori Restriction Endonuclease For Bioconfinement In Panicum Virgatum L., Jessica Nicole Stockdale

Masters Theses

The dispersal of pollen from genetically engineered (GE) crops can lead to unintended transgene flow, especially in wind-pollinated and obligate-outcrossing species such as switchgrass (Panicum virgatum L.). Various bioconfinement approaches have been studied for their potential to eliminate transgene flow from GE crops including selective male sterility, which aims to inhibit the germination of transgenic pollen grains. In this study, pollen-specific promoters controlling the expression of the EcoRI endonuclease, interrupted by a catalase intron, was evaluated for its efficacy to produce sterile pollen. The TaPSG719, PvPS1, Osg6B, OsRTS, and Zm13 promoters were assessed for pollen-specific expression patterns, none …

The Role Of B Cell Activation State And Sex In Aryl Hydrocarbon Receptor Mediated Induction Of Chemokine Receptor 9 And Alpha4beta7 Expression In Vitro, Logan Bauerle

Master's Theses

Defense of mucosal tissues from microbial infection and allergy is reliant on continual production of antibodies. The aryl hydrocarbon receptor (AhR) is known to regulate B cell development and is associated with suppression of systemic humoral immunity. Recent attention has been paid to the role of the AhR in altering expression of cell adhesion molecules (CAMs). B cells express CAMs and chemokine receptors to migrate around the body for localized secretion of antibodies. AhR agonists promote B cell migration to the small intestine through upregulation of chemokine receptor 9 (CCR9) and integrin α₄β₇. Both the AhR …

Exploring Genomic Convergence For Adaptations To Freezing Environments In Polar Fish, Ethan Talley

Biological Sciences Undergraduate Honors Theses

Convergent evolution provides valuable insights into how natural selection shapes species traits. Genomic analysis of lineages that display convergent traits has the potential to identify candidate genes for environmental adaptations across the scope of entire genomes. One remarkable example of convergent evolution is the independent development of antifreeze proteins (AFPs) in phylogenetically distant polar fish lineages. While AFPs themselves are relatively well studied, the full genomic context of adaptation to freezing conditions in these fish lineages remains largely unexplored. Leveraging the whole genome sequences previously assembled in our lab, along with other high-quality genomes available in GenBank, I examined the …

Uncovering Novel Small Regulatory Rna In Protostome, Sweta Khanal

Dissertations

Small RNAs play pivotal roles in post-transcriptional gene regulation across diverse phylum of protostomes. In this study, we investigate the functional significance of atypical miRNAs, mirtron miR-1017 in Drosophila. Through ectopic expression in neuronal cells, we demonstrate that miR-1017 extends lifespan by targeting its host transcript, acetylcholine receptor Dα2, and influencing its splicing. This novel trans-regulatory function suggests a mechanism for mirtron evolution, highlighting the interplay between splicing and post-transcriptional regulation. Additionally, we profile small RNA populations in the polychaete developmental model Capitella teleta, shedding light on the small RNA landscape in annelid worms. Our analysis reveals a rich …

Single Cell Pharmacodynamic Modeling Of Cancer Cell Lines, Arnab Mutsuddy

All Dissertations

Cancer is one of the leading causes of disease related death worldwide. Since the discovery of the genomic origins of cancer, targeted therapy has been developed towards specific mutations implicated for oncogenic transformation. However, current standard-of-care for mapping cancer patients to efficacious drug combination is often inadequate. The pathophysiology of tumor progression relies on the dysregulation of biomolecular pathways of which the topology and the dynamics challenge prognosis. Moreover, the overall genomic instability involved in disease states and the resulting inter-patient as well as intra-tumoral heterogeneity challenge rationalization of therapy and clinical decision-making. It highlights the need for the use …

Survey Of The Bolctes From Fish River Nature Preserve, Noah T. Nelson

Honors Theses

Boletes are a special kind of mushroom inside of the Kingdom Fungi that are distinguished from other mushrooms by their uniquely pored hymenium, as opposed to gills. Many boletes are ectomycorrhizal, meaning they are mutualists with vascular plants, and thus beneficial to the overall health of the terrestrial ecosystem. Some are well-known for their edibility and are of economic importance. In the United States 59 genus-level clades comprising 290 operational taxonomic units have been reported. The southeastern US and Gulf Coast regions however are less researched and recorded for their mushroom ecology. In Alabama, only 56 bolete species have been …

Conserving One Of Hawai'i'S Last Endemic Ducks: Genetics And Habitat Associations Of Koloa, Feral Mallards, And Their Hybrids, Kristi Fukunaga

Open Access Theses & Dissertations

Increases in anthropogenic hybridization through introduced species have accelerated the loss of genetic diversity and reductions in population size of native species that are already threatened by population and genetic diversity decline. Fertile hybrids that are common among waterfowl (order Anseriformes) are especially worrisome. A prime example is the endangered Hawaiian duck (Anas wyvilliana; “koloa maoli”), which is the remaining endemic duck species on the main Hawaiian Islands and is threatened by genetic extinction through ongoing hybridization with feral mallards (Anas platyrhynchos). Of note, koloa populations are known to be strongly male-biased (3:1), and this sex bias is known to …

The Anti-Diabetic Drug Metformin Disrupts Feeding And Sleeping Behaviors In Drosophila Melanogaster., Lucas Fitzgerald

College of Arts & Sciences Senior Honors Theses

Dimethylbiguanide, also known as metformin, is the single most prescribed oral treatment for non-insulin dependent diabetes mellitus, or type 2 diabetes, in Western countries. The primary mechanism of action that metformin acts through is the activation of AMP kinase, an important regulator of energy homeostasis. While the anti-diabetic effects of metformin are well documented, its effects on feeding and sleeping behaviors are not well characterized. Using the model organism Drosophila melanogaster, the mean daily quantity of food consumed was measured and compared between groups treated with several dosages of metformin. Feeding interactions such as meal frequency and length were …

A Phylogenetic Analysis Of The Population Dynamics Of A Captive Colony Of Diploptera Punctata., Nick Peterson

Theses/Capstones/Creative Projects

The unique milk production of Diploptera punctata makes this species a promising model species in entomology for studying the evolution of milk production and for insect endocrinology. Despite this, the genetic diversity of captive populations of the species is not well studied. To better evaluate the captive diversity and population dynamics of Diploptera punctata at UNO we extracted the DNA of 20 random individuals and amplified their DNA using 4 different primers before cleaning the amplified products and sequencing the genes of the samples for use in both individual and concatenated phylogenetic trees. Our results indicate the UNO colony of …

Characterization Of Ato Family Transporters In The Fungal Pathogen Cryptococcus Neoformans, Will Betsill

All Theses

Fungal pathogens are a significant threat to public health as they are becoming increasingly common and more resistant to treatment. Cryptococcus neoformans contributes greatly to this threat annually by causing an estimated 278,000 cases of cryptococcal meningitis resulting in approximately 181,000 deaths globally according to the CDC. C. neoformans is ubiquitous across most of the globe and can be found in such places as in trees or soil. Exposure to this fungus is especially dangerous to individuals who are immunocompromised or immunosuppressed. In these cases, inhalation of spores can lead to infection in the lungs. Once in the lungs, C. …

Prenatal Genetic Counselors' Perceptions Of Non-Invasive Prenatal Testing (Nipt): A Look At The Informed Consent Process And Common Patient Misconceptions, Emma Duarte, Alaina Swendseid

Human Genetics Theses

Our study investigated prenatal genetic counselors’ perspectives on and overall satisfaction with the current practice of informed consent for non-invasive prenatal testing (NIPT). With the routinization of NIPT, it is increasingly necessary for healthcare providers other than genetic counselors to facilitate pretest counseling. This in turn raises concerns that time constraints and non-genetics providers’ lack of knowledge about NIPT will leave patients unprepared to make an informed decision about prenatal testing. To explore the frequency of perceived patient misconceptions and their perceived sources and identify potential strategies to address current challenges in the informed consent process, we created an online …

Evaluation Of Patient And Provider Satisfaction With A Point Of Care Genetic Testing Model For Cancer Patients, Andrea Verdes, Molli S. Goodman

Human Genetics Theses

The ever-increasing demand for cancer genetics services is driven by expanded patient eligibility criteria and the utility of hereditary cancer genetic testing (HCGT) in informing treatment plans and long-term risk management. This demand is currently unmet due to the limited supply of genetic counselors; therefore, alternative service delivery models are being explored to improve access to HCGT. This study used a mixed-methods approach to concurrently evaluate patient and provider satisfaction with a point-of care testing (POCT) model at NYU Langone Health. In this POCT model, cancer patients who were eligible for HCGT received pretest education from an educational video and …

Exploring Diversity In Genetic Counseling: Experiences And Perspectives Of Bipoc Faculty And Leadership, Dessiah Phillips

Human Genetics Theses

The underrepresentation of racial and ethnic minorities within faculty and leadership roles in genetic counseling programs highlights a critical gap in the field's commitment to diversity and inclusion. This sequential explanatory mixed-methods study investigates the experiences, challenges, and perspectives of Black, Indigenous, and People of Color (BIPOC) serving in these capacities. By examining responses from the faculty and leadership members across various genetic counseling programs, this research aimed to identify barriers to diversity and explore mechanisms for fostering a more inclusive environment. The findings revealed an underrepresented number of BIPOC individuals (n≤3) in leadership or faculty roles per genetic counseling …

Examining Rare Instances Of Vexas Syndrome In Females, Emily Nasho, Kelsey Crocker

Human Genetics Theses

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset inflammatory condition. Initially thought to only affect males with a specific myeloid-lineage UBA1 somatic mutation, it was hypothesized that females with the same pathogenic mutation might have a milder form of the condition due to its X-linked inheritance. However, recent research has demonstrated that the genotypic and phenotypic profile of VEXAS patients is expanding, with a recent subset of female patients being identified. This literature review investigates the clinical features and UBA1 somatic mutations in females with VEXAS, aiming to understand how the condition presents in females compared to …

Elucidation Of The Overexpression Of Taf2 In Eukaryotic Cells, Morgan Osborn

Honors Theses

Through several studies, Taf2 has been found to be upregulated in various cancer cells. However, the mechanism through which this increased expression of Taf2 occurs remains unknown. As evolutionarily conserved ubiquitin-proteasome system (UPS) maintains protein homeostasis for normal cellular function, we hypothesized that stability of Taf2 may be regulated by this UPS and this UPS may be dysregulated in cancer cells causing overexpression of Taf2. To test our hypothesis, we assessed the role of the UPS in the regulation of the stability of Taf2 by 26S proteasome-mediated degradation. To do so, we performed molecular experiments mainly through two steps: 1st …

The Study Of Dmrt1 In Zebrafish And How It Impacts Sex Determination, Raymond Michael Poirier

Graduate Masters Theses

The dmrt1 gene is common amongst most animals and functions to determine or maintain male sex during development. Similarly, in zebrafish dmrt1 is important for male sex determination and maintaining proper testis morphology. This gene is expressed in two different cell types of the testis in zebrafish, germ cells and Sertoli cells. While we know where this gene is expressed and what its role is, it is not known if it is sufficient to drive male fate. If so, then in which cells is it sufficient to drive male fate in the testis? I aimed to answer this question by …

The Genomics Of Champ1: Insights Into Their Cell-Type Specificity And Developmental Trajectories, Zoe Marie Van Caugherty

MUSC Theses and Dissertations

Chromosome alignment maintaining phosphoprotein 1(CHAMP1) is a gene that encodes a zinc finger protein that is involved in in the maintenance of kinetochore-microtubule attachment and regulating chromosome segregation in mitosis. (Itoh et al., 2011) CHAMP1 mutations have been shown to be major risk factors for neurodevelopmental disorders (NDDs) and autism spectrum disorder (ASD).(Asakura et al., 2021; Isidor et al., 2016; Levy et al., 2022) Although there is information on the link between CHAMP1 mutations and NDD, the role of CHAMP1 in regulating processes of human cortical development, namely, neurogenesis, proliferation, and electrophysiological properties of newly born neurons, is unknown. This …

Determining The Effects Of Mistranslating Transfer Rna Variants On Drosophila Melanogaster, Joshua R. Isaacson

Electronic Thesis and Dissertation Repository

Transfer RNAs (tRNAs) play a central role in translation as adaptor molecules between mRNA and protein. Variant tRNAs can cause the misincorporation of an amino acid into a growing polypeptide. Mistranslating tRNA variants are surprisingly common in humans but the effects of mistranslating tRNA variants on eukaryotic biology are poorly understood. My thesis aimed to create a model of tRNA-induced mistranslation using the fruit fly Drosophila melanogaster and characterize the effects of mistranslating tRNA variants on eukaryotic biology.

I first integrated a gene encoding a serine tRNA variant that induced proline-to-serine (P>S) mistranslation into the fly genome. Proteins isolated …

Exploring The Potential Pathogenicity Of A Type 2 Diabetes Mellitus Associated Insr Missense Variant Of Uncertain Significance Through Daf-2 In The Caenorhabditis Elegans Model, Brittany White

Theses

Type 2 diabetes mellitus (T2DM) is hallmarked by insulin resistance, with the INSR gene identified as a key player in this condition in humans. This gene is known to harbor genetic variants with a wide range of clinical significance from pathogenic to variants of uncertain significance (VUS) to benign. This project investigates a VUS associated with T2DM identified through ClinVar. A gene mutational analysis, predictive amino acid substitution analysis, and protein modeling predict INSR c.1628C>T (p. Thr543Met) to be likely pathogenic or damaging. PolyPhen-2 predicts this variant to be probably damaging (HumDiv score of 1.000).

Evolutionary conservation of the …

Documenting The Southern Range Terminus Of The Wood Frog (Lithobates Sylvaticus) In North America, Christian Braswell

Theses

The Wood Frog (Lithobates sylvaticus) holds a remarkable position in North American amphibian biology, with its range extending from the Arctic Circle down to the near sub-tropical southeastern United States. This thesis presents a novel quantitative polymerase chain reaction analysis (qPCR) primer specific to L. sylvaticus and a survey effort regarding the southernmost distribution and detection of this species in Alabama through the application of environmental DNA (eDNA) sampling techniques. By investigating historical data and employing advanced genetic methodologies, this research provides insights into the contemporary status and distribution of the Wood Frog. This research is important to …

Deciphering The Functional Connections Between The Nuclear Paraspeckle And Rad51 Homologous Recombination Proteins Using A Yeast Protein Interaction System, Eric J. Nutz

Senior Theses

Homologous recombination (HR) is a repair pathway for DNA double-stranded breaks. Mutations in HR genes contribute to genomic instability and increase the prevalence of cancer. Exploiting HR deficiency in tumor cells has led to improved synthetic lethality outcomes. RAD51 paralogue protein complexes are known to be involved with HR. Proteomic analysis of RAD51 paralogues reveals a connection to the nuclear paraspeckle. A paraspeckle is a little-known, specialized organelle found in the interchromatin space of the nucleus in mammalian cells. Its three central protein components include SFPQ, NONO, and PSPC1. RAD51D is an HR protein shown previously to interact with SFPQ …

Species Delimitation Of Slimy Salamanders, Plethodon Kisatchie And Plethodon Mississippi, Across The Lower Mississippi River, Brock Hunter Stevenson

Master's Theses

Species are fundamental units of biodiversity yet delimiting species can be challenging. Slimy Salamanders of the Plethodon glutinosus species complex are a classic example of cryptic species for which species boundaries and relationships have proved difficult to determine. Once thought to be a single species ranging across the eastern United States, protein analysis revealed high genetic divergences among geographically distinct groups of populations, leading to 16 species being recognized within the group. Two of these species, the Louisiana Slimy Salamander (Plethodon kisatchie) and the Mississippi Slimy Salamander (Plethodon mississippi), are closely related but occur on opposite sides of the Mississippi …