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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 …

Identification, Creation, And Characterization Of Bio-Based Antifreeze Agents, Joshua Samuel Saad

Masters Theses

Ice recrystallization is a key problem leading to quality deterioration of frozen foods and biomedical materials. Molecules possessing ice recrystallization inhibition (IRI) activity can control ice crystal size after freezing, reducing the degree of freezing-induced damage. While these IRI active molecules have shown promise in maintaining the quality of frozen foods, their slow discovery, limited creation strategies, and lack of mechanistic understanding limit their hypothesis-driven design. In this work, we address these above-stated needs required for the streamlined implementation of these materials into frozen systems by the creation of a machine-learning-based IRI screening method, the development of a new IRI …

The Historical Biogeography Of Spiny Lobsters In The Genus Panulirus And The Influence Of Environmental Conditions On The Adaptive Evolution Of Mitochondrial Protein-Coding Genes In The Achelata, Alyssa Baker

All Theses

Contemporary and historical changes in marine environmental conditions influence biodiversity drastically. In marine invertebrates with highly dispersive planktonic larvae, diversification is facilitated or constrained by tectonic plate movements altering geography, prevailing current patterns, and climate. The decapod crustacean infraorder Achelata, which contains the spiny (fam. Palinuridae) and slipper (fam. Scyllaridae) lobsters, is characterized by a long-lived phyllosoma larvae stage. Panulirus is the most economically significant and speciose genus of spiny lobsters, with 20 recognized extant species and 5 subspecies distributed throughout shallow tropical and subtropical oceans worldwide. Diversification within these lineages has been proposed to be primarily driven by geological …

Molecular Mechanisms Of Opioid Use Disorder In Human Brain Models, Emily Mendez

Dissertations & Theses (Open Access)

Opioid use disorder (OUD) is a national and global public health crisis with no end in sight. While studies from animal models hint at widespread epigenetic and transcriptomic alterations of opioid drugs, the molecular consequences of long-term exposure to opioid drugs in human brain is still unclear, and human-centered translational models are necessary to discern the human cell type-specific effects of OUD.

Using postmortem brain Brodmann area 9 (BA9) from the UTHealth Brain Collection for Research on Psychiatric Disorders, I identified angiogenic gene networks perturbed in the RNA and protein of OUD subjects, as well as downregulation of many neuron-correlated …

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 …

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 …

Computational Study Of Confined Cytoskeletal Assemblies: Simple Rules, Complex Behavior, Oghosa Honor Akenuwa

Doctoral Dissertations

The actin cytoskeleton is crucial for cellular processes and proper organization in cells. Physical regulators like actin crosslinking proteins, molecular motors, and physical confinement significantly impact the organization of the actin cytoskeleton. Despite advances, much remains unknown about how these physical regulators affect actin organization. In this thesis, we employ coarse-grained computer simulations to investigate the effect of physical regulators on the dynamics and organization of semiflexible actin filaments. First, we explore the role of crosslinker properties and confinement shape on actin organization by varying the system shape, the number and type of crosslinking proteins, and the length of filaments. …

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 …

Exploration Of Enterococcus Faecalis Bacteriophages Diversity: Comprehensive Phylogenetic Analysis And Discovery Isolation Of Enterococcus Faecalis Phage From A Soil Sample In South Florida, Hailey N. Jauernick

All HCAS Student Capstones, Theses, and Dissertations

Enterococcus faecalis is a commensal bacterium found in the gastrointestinal tract, oral cavity, and vagina of humans, which can transition to pathogenic states, leading to diverse infections. Many E. faecalis infections are becoming progressively challenging to treat, stemming from the lack of effective antibiotic therapies against its virulence factors, including biofilm formation and antibiotic resistance. Phage therapy emerges as a promising alternative, targeting bacteria with minimal impact on host flora. However, despite phages' ubiquitous presence and potential applications in medicine and biotechnology, their diversity and ecological niches are vastly understudied. Here, we investigated the diversity of sequenced E. faecalis phages …

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 …

Time Series Models For Predicting Application Gpu Utilization And Power Draw Based On Trace Data, Dorothy Xiaoshuang Parry

Electrical & Computer Engineering Theses & Dissertations

This work explores collecting performance metrics and leveraging various statistical and machine learning time series predictive models on a memory-intensive application, Inception v3. Trace data collected using nvidia-smi measured GPU utilization and power draw for two runs of Inception3. Experimental results from the statistical and machine learning-based time series predictive algorithms showed that the predictions from statistical-based models were unable to capture the complex changes in the trace data. The Probabilistic TNN model provided the best results for the power draw trace, according to the test evaluation metrics. For the GPU utilization trace, the RNN models produced the most accurate …

Remodeling Anaplastic Thyroid Cancer's Aggressive Profile And Metabolic Signature By Natural Alkaloid Berberine, Tara Elizabeth Jarboe

NYMC Student Theses and Dissertations

Anaplastic thyroid cancer is a rare, fatal cancer with a five-year survival of 4%. Universally diagnosed at stage IV, anaplastic thyroid cancer is characterized by its lack of differentiation, rapid proliferative rate, highly inflammatory tumor microenvironment, and metabolic dysregulation. Refractory to all established therapies, anaplastic thyroid cancer requires a novel therapeutic approach that targets all of these drivers of anaplastic thyroid cancer carcinogenesis. We propose natural alkaloid berberine as a therapeutic with multitarget efficacy to alter mitochondrial metabolism and reprogram anaplastic thyroid cancer’s aggressive phenotype. Our in vitro model uses monocyte cell line U937, anaplastic thyroid cancer cell lines T238 …

Integrative Genomic Insights Into Coral Resilience: Adaptive And Acclimatory Responses To Seasonal Environmental Shifts, Tasnim Ghanim

Theses and Dissertations

Coral reefs, critical to marine biodiversity and coastal protection, face escalating threats from climate change-related phenomena such as ocean warming. This warming is leading to widespread thermal stress that contributes to coral bleaching and infectious disease in corals, leading to the disruption of marine ecosystems and the economies that depend on them. Focusing on the brain coral Platygyra daedalea, known for its thermal resilience in the Persian Arabian Gulf—a region that exemplifies the extreme stressors of climate change—our study aims to dissect the genetic, transcriptomic, and microbiological underpinnings of coral survival in high-temperature environments predicted for the end of …

Protein-Protein Interactions In Cell Cycle Proteins: An In Silico Investigation Of Two Important Players, Andriele Eichner

Dissertations, Theses, and Capstone Projects

The examination of the cell cycle carries significant implications for the biology, health, and overall existence of all living things. These implications span from the development and growth of these organisms to the aging process and cancer, as well as the potential of stem cell therapies to repair diseases and injuries. Numerous proteins of the cell cycle are essential for cellular division and proliferation and are widely conserved over the course of evolution. In this work, we aimed to investigate the molecular processes of protein-protein interactions in cell cycle proteins, centering on two key players: Cdc6 in budding yeast and …

Elastin-Like Polypeptide As A Model To Study Intrinsically Disordered Proteins, Sadegh Majdi

Theses and Dissertations

The elastin-like polypeptide (ELP) is a well-studied structural protein that is easily amenable to amino acid (AA) sequence modifications and has the potential to yield a wide variety of uses in bioengineering and biomedical applications. One unique property of ELP is the inclusion of intrinsically disordered domains (IDP) within the structure that allow for its diversity of physical properties. While it is generally understood that amino acid sequence dictates protein folding arrangements, the contributions of specific amino acid sequences to the intrinsic disorder of ELP has yet to be fully resolved. Therefore, identifying the contributions of specific amino acid sequences …

Molecular Understanding And Design Of Deep Eutectic Solvents And Proteins Using Computer Simulations And Machine Learning, Usman Lame Abbas

Theses and Dissertations--Chemical and Materials Engineering

Hydrophobic deep eutectic solvents (DESs) have emerged as excellent extractants. A major challenge is the lack of an efficient tool to discover DES candidates. Currently, the search relies heavily on the researchers’ intuition or a trial-and-error process, which leads to a low success rate or bypassing of promising candidates. DES performance depends on the heterogeneous hydrogen bond environment formed by multiple hydrogen bond donors and acceptors. Understanding this heterogeneous hydrogen bond environment can help develop principles for designing high performance DESs for extraction and other separation applications. This work investigates the structure and dynamics of hydrogen bonds in hydrophobic DESs …

Active Uncertainty Representation Learning: Toward More Label Efficiency In Deep Learning, Salman Mohamadi

Graduate Theses, Dissertations, and Problem Reports

The primary goal of this dissertation is to investigate and improve the efficiency of deep learning algorithms, especially within computer vision problem domains, from the perspective of label-efficiency. This investigation showed that deep learning algorithms are mostly notorious for the lack of uncertainty representation. Accordingly, we aimed to develop an array of deep learning frameworks rich with uncertainty representation. These frameworks are mainly within two current pillars of machine learning, deep active learning and self-supervised learning. These frameworks include deep active ensemble sampling for efficient sample selection within deep active learning, a two-stage ensemble-based general self-training approach for existing visual …

When Brain Meets Artificial Intelligence, Lu Zhang

Computer Science and Engineering Dissertations

When we review the history of development of artificial intelligence (AI), we will find that brain science plays a pivotal role in fostering breakthroughs in AI, such as artificial neural networks (ANNs). Today, AI has made remarkable strides, particularly with the emergence of large language models (LLMs), surpassing expectations and achieving human-level performance in certain tasks. Nonetheless, an insurmountable gap remains between AI and human intelligence. It is urgent to establish a bridge between brain science and AI, promoting their mutual enhancement and collaborations. This involve establishing connections from brain science to AI (brain-inspired AI), and reversely, from AI to …

Image Segmentation By Convolutional Neural Networks In Coral Resilience Research, Jennifer Benbow

Master's Projects

As ocean temperatures rise, coral bleaching is becoming more frequent and severe. Selective breeding experiments show promise for enhancing coral resilience, but scaling these projects is hindered by the labor-intensive nature of taking numerous time series measurements as corals grow. Automating this process with computer vision is one solution to this bottleneck, and to our knowledge, no such tool exists at present. To fill this gap, we have trained a set of machine learning models, based on the Mask R-CNN framework, for segmenting juvenile corals in lab-based coral resilience research. This work shows that retraining the Mask R-CNN architecture through …

Language Models For Rare Disease Information Extraction: Empirical Insights And Model Comparisons, Shashank Gupta

Theses and Dissertations--Computer Science

End-to-end relation extraction (E2ERE) is a crucial task in natural language processing (NLP) that involves identifying and classifying semantic relationships between entities in text. This thesis compares three paradigms for end-to-end relation extraction (E2ERE) in biomedicine, focusing on rare diseases with discontinuous and nested entities. We evaluate Named Entity Recognition (NER) to Relation Extraction (RE) pipelines, sequence-to-sequence models, and generative pre-trained transformer (GPT) models using the RareDis information extraction dataset. Our findings indicate that pipeline models are the most effective, followed closely by sequence-to-sequence models. GPT models, despite having eight times as many parameters, perform worse than sequence-to-sequence models and …

The Influence Of Intracellular Photosymbiosis On The Evolution And Function Of Cnidarian Immunity, Madison A. Emery

Biology Dissertations

Intracellular photosymbiosis with Symbiodiniaceae is facilitated by cnidarian immunity as it is required for symbiont recognition and is subsequently suppressed to maintain stable intracellular symbiosis. To date, it is unclear how the cnidarian-Symbiodiniaceae symbiosis influences immune gene repertoires, immune gene expression, and disease pathology across its independent evolutions. To address these knowledge gaps, my dissertation approaches studying the cnidarian-Symbiodiniaceae symbiosis through a comparative lens to determine how it shapes immune gene evolution and immune responses in divergent symbiotic cnidarian species. In chapter two I survey eight non-symbiotic and seven symbiotic cnidarians proteomes for four families of pattern recognition receptors (PRRs) …

Environmental Biology Masters Capstone, Antonio Gonzalez-Pita

Regis University Student Publications (comprehensive collection)

Human wildlife interactions (HWI) pose a complex challenge for wildlife managers. Human encroachment into wildlife habitat and the growing number of outdoor recreationists are increasing the frequency of contact and conflict, especially in regions such as the Front Range of Colorado. Geographic information systems (GIS), which use a combination of remote sensing and environmental survey data, allow for predictive spatial analyses of where human wildlife interactions are likely to occur. I used publicly reported observations of moose to create spatial predictive maps in a species distribution model framework. Slope and elevation were shown to be the strongest predictors of HWI, …

Compliance And Roughness In Relation To Gecko Locomotion, Brooklynn Campbell

Williams Honors College, Honors Research Projects

Geckos move efficiently through a variety of substrates, from swaying branches to wooden fences to the sides of structures. Previous studies have studied locomotion and adhesion on manmade and rough substrates; however, the work is limited when discussing locomotion and adhesion as a relationship of compliance and roughness. Ease of movement was quantified by speed, under the assumption that the faster a gecko moves, the easier it is for the gecko to cross the substrate. Gehyra oceanica geckos from Moorea, French Polynesia were tested on substrates varying in compliance and roughness with four different treatments in total. Compliance, roughness, and …

The Critical Role Of Nac1 In Triple-Negative Breast Cancer Stemness And Immunosuppression, Chrispus Ngule

Theses and Dissertations--Toxicology and Cancer Biology

Triple-negative breast cancer (TNBC) is a highly heterogeneous and the most lethal breast cancer (BC) subtype. We report here a new role of nucleus accumbens associated protein 1 (NAC1) in maintaining stemness signature and features of TNBC and controlling the status of myeloid-derived suppressor cells, which accounts for its role in tumor progression and metastasis. This report demonstrates increased NAC1 amplification in TNBC metastatic samples compared to nonmetastatic tissues. In vitro, NAC1 depletion in TNBC cells suppressed their proliferation, colony formation, migration, and invasion. In vivo, NAC1 knockdown in TNBC cells reduced tumorigenic ability, diminished tumor growth rate, and abolished …

Practical Challenges In Delivering Dsrna For Woody Plant Protection, Zachary Bragg

Theses and Dissertations--Entomology

Unprecedented weather events associated with climate change, coupled with extensive anthropogenic stresses, have reduced the effectiveness of traditional forest pest management approaches, which can no longer keep pace with invasive species overwhelming naïve landscapes and native pests experiencing eruptive and expansive outbreaks. Double-stranded RNA-(dsRNA) mediated gene silencing, a type of RNA interference (RNAi), has been coopted for use as a biopesticide against a multitude of agricultural and horticultural pests and could serve as a powerful tool for woody plant protection. While effective initiation of gene silencing and subsequent mortality have been demonstrated in multiple tree pests, effective and efficient methods …

Model-Based Deep Autoencoders For Clustering Single-Cell Rna Sequencing Data With Side Information, Xiang Lin

Dissertations

Clustering analysis has been conducted extensively in single-cell RNA sequencing (scRNA-seq) studies. scRNA-seq can profile tens of thousands of genes' activities within a single cell. Thousands or tens of thousands of cells can be captured simultaneously in a typical scRNA-seq experiment. Biologists would like to cluster these cells for exploring and elucidating cell types or subtypes. Numerous methods have been designed for clustering scRNA-seq data. Yet, single-cell technologies develop so fast in the past few years that those existing methods do not catch up with these rapid changes and fail to fully fulfil their potential. For instance, besides profiling transcription …

Dna Methylation-Based Epigenetic Biomarkers In Cell-Type Deconvolution And Tumor Tissue Of Origin Identification, Ze Zhang

Dartmouth College Ph.D Dissertations

DNA methylation is an epigenetic modification that regulates gene expression and is essential to establishing and preserving cellular identity. Genome-wide DNA methylation arrays provide a standardized and cost-effective approach to measuring DNA methylation. When combined with a cell-type reference library, DNA methylation measures allow the assessment of underlying cell-type proportions in heterogeneous mixtures. This approach, known as DNA methylation deconvolution or methylation cytometry, offers a standardized and cost-effective method for evaluating cell-type proportions. While this approach has succeeded in discerning cell types in various human tissues like blood, brain, tumors, skin, breast, and buccal swabs, the existing methods have major …

Investigating The Impact Of Transcription On Mutation Rates, Sarah Patterson

Theses and Dissertations

tRNA genes are highly transcribed and perform one of the most fundamental cellular functions. Although a universal pattern observed across all three domains of life is that highly transcribed genes tend to evolve slowly, tRNA genes have been shown previously to evolve rapidly. This rapid sequence evolution could result from relaxed selection, increased mutation rate, or a combination of both. Here, we use mutation-accumulation line sequencing data to show that tRNA genes accumulate more mutations than other gene types. Our results indicate that this elevated mutation rate is a consequence of both elevated transcription-associated mutagenesis and a lack of transcription-coupled …

Exploring Soil Microbial Dynamics In Southern Appalachian Forests: A Systems Biology Approach To Prescribed Fire Impacts, Saad Abd Ar Rafie

Doctoral Dissertations

Prescribed fires in Southern Appalachian forests are vital in ecosystem management and wildfire risk mitigation. However, understanding the intricate dynamics between these fires, soil microbial communities, and overall ecosystem health remains challenging. This dissertation addresses this knowledge gap by exploring selected aspects of this complex relationship across three interconnected chapters.

The first chapter investigates the immediate effects of prescribed fires on soil microbial communities. It reveals subtle shifts in porewater chemistry and significant increases in microbial species richness. These findings offer valuable insights into the interplay between soil properties and microbial responses during the early stages following a prescribed fire. …

Regulation Of Protein Synthesis In Arabidopsis Thaliana Through A Bioinformatic And Mathematical Lens, Ricardo Andres Urquidi Camacho

Doctoral Dissertations

Organisms exist under constantly varying environmental and internal conditions, which necessitate the differential regulation of gene expression. To synthesize proteins, the ribosome translates the information encoded in the nucleotide sequence of an mRNA into the final, functional amino acid sequence. Knockouts of ribosomal proteins lead to lethality. One such protein is the ribosomal protein 6 of the small subunit (eS6/RPS6). We confirmed that the knockout of either one of two eS6 paralogs in Arabidopsis leads to stunted growth and chlorosis. Here, these phenotypes have been further characterized in seedlings by precisely quantifying the ribosome loading of mRNAs as well as …