Genetics and Genomics Commons^™

Delineating Genetic Influences On Neurodegenerative Disorders And Infectious Diseases Through Advanced Computational Methods, Xiaowei Zhuang

UNLV Theses, Dissertations, Professional Papers, and Capstones

Genetics plays a critical role in understanding the molecular mechanisms underlying neurodegenerative disorders and pathogen evolution in infectious diseases. For example, identifying genetic variants associated with a disease phenotype uncovers functional pathways that could lead to potential drug targets and therapeutic interventions. In addition, tracking the genetic evolution of pathogens enables early detection and warning of infectious disease outbreaks. In both applications, given the large amount of genetic data, advanced computational methods, including longitudinal and multivariate models, could significantly boost the statistical power and capture interrelationships among traits, environmental factors and genetic influences. This dissertation focuses on four applications of …

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

The Cardinal Edge

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 …

Pathway-Based Polygenic Risk Score Analysis Of Brain Glial Indicates Cell-Type-Specific Roles In Alzheimer's Disease, Tyrell Pratt, Alice Lee, Jennifer Zheng, Faria Tavacoli, Hayley Ho, Tingwei Liu, Jingchun Chen

Undergraduate Research Symposium Posters

Background: Alzheimer's disease (AD) is a complex neurodegenerative disorder characterized by progressive cognitive decline and extensive brain pathology, including amyloid plaques, neurofibrillary tangles, and neuroinflammation. This study aims to identify any glial cell type-specific pathways associated with AD.

Methods: We first investigated the correlation between AD and the genetic risk of glia-specific pathways using pathway-based polygenic risk score (PRS) with PRSet software in the discovery data (ADc1234ADA) adjusted by the top two principal components (PC1, PC2) (Model 1), followed by additional adjustment with sex, age, and APOE ε4 count in Model 2. Further PRSet analyses were replicated in independent data …

Glial-Specific Genes Are Strongly Associated With Alzheimer's Disease By Gene-Based Polygenic Risk Score Analysis, Jennifer Zheng, Faria Tavacoli, Tyrell Pratt, Alice Lee, Tingwei Liu, Jingchun Chen

Undergraduate Research Symposium Posters

Methods: Gene-based PRSs were constructed in AD cases and controls within each gene of the glial cells, according to the GWAS summary statistics of European ancestry. In detail, gene-based PRSs were first calculated for each glial cell type-specific gene for AD cases and controls in the discovery dataset (ADc1234ADA) using PRSet software. A meta-analysis with a fixed model was performed when the signal in both datasets was in the same direction. Bonferroni corrections for multiple testing (at α = .05) were used to determine significance within each of the three glial groups. Forest plots were used to visualize the results …

Porcine Peritoneal Macrophages Are Susceptible To Porcine Reproductive And Respiratory Syndrome Virus Infection, Kassandra Durazo-Martinez, Jayeshbhai Chaudhari, Sushmita Kumari, Hiep Vu

Department of Animal Science: Faculty Publications

Previous studies have suggested that porcine peritoneal macrophages (PPMs) are resistant to PRRSV infection, whereas porcine alveolar macrophages (PAMs) are highly susceptible. This contrast is intriguing, as both cell types belong to the same monocyte/macrophage family. The current study aimed to investigate the host factors contributing to the differing susceptibility of PPMs and PAMs to PRRSV infection. We found that PPMs exhibit a higher frequency of CD14+ cells compared to PAMs, suggesting a more immature macrophage phenotype in PPMs. Importantly, PPMs expressed both CD163 and CD169, the key receptors for PRRSV entry, although the frequency and intensity of CD163 and …

Disruption Of The Oswrky71 Transcription Factor Gene Results In Early Rice Seed Germination Under Normal And Cold Stress Conditions, Santiago Bataller, James A. Davis, Lingkun Gu, Sophia Baca, Gaelan Chen, Azeem Majid, Anne J. Villacastin, Dylan Barth, Mira V. Han, Paul J. Rushton, Qingxi J. Shen

Life Sciences Faculty Research

Background

Early seed germination in crops can confer a competitive advantage against weeds and reduce the time to maturation and harvest. WRKY transcription factors regulate many aspects of plant development including seed dormancy and germination. Both positive and negative regulators of seed germination have been reported in many plants such as rice and Arabidopsis. Using a transient expression system, we previously demonstrated that OsWRKY71 is a negative regulator of gibberellin (GA) signaling in aleurone cells and likely forms a “repressosome” complex with other transcriptional repressors. Hence, it has the potential to impact seed germination properties.

Results

In this study, we …

Therapeutic Potential Of Astrocyte-Derived Extracellular Vesicles In Mitigating Cytotoxicity And Transcriptome Changes In Human Brain Endothelial Cells, Ruth Juliana Stewart

Doctoral Dissertations

Extracellular vesicles (EVs) play a major role in cell-to-cell communication via the horizontal transfer of RNA, DNA, proteins, and lipids that affect the physiological response of the recipient cells. Astrocytes are a type of glial cell that exerts a protective effect on neurons and brain endothelial cells. The astrocytes and the endothelial cells form the blood-brain barrier. Due to their nano-size and non-complex structure, EVs can efficiently cross the blood-brain barrier. This study investigated and assessed the impact of EVs on reducing oxidative DNA damage in human brain endothelial cells (HBECs). The protective potential of astrocyte-derived EVs was determined by …

Multi-Decadal Aspen Dynamics Show Recruitment Bottleneck Across Complex Mountain Community, Michael T. Stoddard, Kyle C. Rodman, Connor D. Crouch, David W. Huffman, Peter Z. Fulé, Kristen M. Waring, Margaret M. Moore

Aspen Bibliography

Changes in forest structure and shifts in tree species composition have occurred globally due to climate change and altered disturbance regimes. With climate trending toward warmer and drier conditions, these altered forest communities may reorganize in diverse and unpredictable ways. This is especially true in mountain environments where a range of vegetation types and abiotic conditions coexist. In this study, we used long-term permanent plot data from a site spanning broad environmental gradients to assess regeneration and mortality patterns in populations of aspen (Populus tremuloides). The study site, located on the San Francisco Peaks, Arizona, USA, is near …

Analyzing And Extending Machine Learning Frameworks On High Risk Domains, Chengbin Hu

USF Tampa Graduate Theses and Dissertations

Machine learning (ML) has become a transformative force in high-risk domains such as genomics and cybersecurity, where accurate predictions and robust defenses are essential. This dissertation advances ML frameworks in these areas by developing methods to enhance predictive power in health applications and assess vulnerabilities in machine learning systems.

In the genomics field, the work addresses challenges in Non-Invasive Prenatal Testing (NIPT) of monogenic disorders by proposing a deep learning model that reconstructs the fetal genome using maternal plasma cell-free DNA (cfDNA) and parental whole-genome sequencing (WGS) data. This model achieves high accuracy in single nucleotide variation (SNV) prediction, surpassing …

Multi-Organ Gene Expression Analysis And Network Modeling Reveal Regulatory Control Cascades During The Development Of Hypertension In Female Spontaneously Hypertensive Rat, Eden Hornung, Sirisha Achanta, Alison Moss, James S. Schwaber, Rajanikanth Vadigepalli

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Hypertension is a multifactorial disease with stage-specific gene expression changes occurring in multiple organs over time. The temporal sequence and the extent of gene regulatory network changes occurring across organs during the development of hypertension remain unresolved. In this study, female spontaneously hypertensive (SHR) and normotensive Wistar Kyoto (WKY) rats were used to analyze expression patterns of 96 genes spanning inflammatory, metabolic, sympathetic, fibrotic, and renin-angiotensin (RAS) pathways in five organs, at five time points from the onset to established hypertension. We analyzed this multi-dimensional dataset containing ~15,000 data points and developed a data-driven dynamic network model that accounts for …

Impact Of Pathologist-Directed Comprehensive Genomic Profiling In Advanced Non-Small-Cell Lung Cancer In A Large Healthcare System, R Meng, Carlo Bifulco, Brian Piening, See Full List Of Authors In Comments

Articles, Abstracts, and Reports

No abstract provided.

Genomic Landscape Of Fusions In Solid Tumors Detected By Dna And Rna Comprehensive Genomic Profiling At A Large Community Health System, A Dowdell, Carlo Bifulco, Brian Piening, See Full List Of Authors In Comments

Articles, Abstracts, and Reports

No abstract provided.

Protracted Maternal Malnutrition Induces Aberrant Changes In Maternal Uterine Artery Hemodynamics And The Metabolic Profiles Of The Dam And Neonate, Jennifer F. Thorson, Ligia D. Prezotto

Department of Animal Science: Faculty Publications

Malnutritional stress during gestation is a well-established driver of metabolic disfunction in offspring. Extended exposure to malnutrition requires metabolic plasticity as the animal shifts toward a catabolic state. In this paper we demonstrate the influence of malnutrition throughout gestation on uterine artery hemodynamics and the metabolism of the dam and neonate. We hypothesized that gestational malnutrition reduces blood flow of the maternal uterine artery and regulates the metabolic profile of the dam and offspring. Further, the combination of these factors consequently influences the concentration of metabolites in the cerebrospinal fluid of the neonate at birth. To test our hypotheses, pregnant …

Engineering The Coherent Phonon Transport In Polar Ferromagnetic Oxide Superlattices, In Hyeok Choi, Seung Gyo Jeong, Do-Gyeom Jeong, Ambrose Seo, Woo Seok Choi, Jong Seok Lee

Chemical and Materials Engineering Faculty Publications

Artificial superlattices composed of perovskite oxides serves as an essential platform for engineering coherent phonon transport by redefining the lattice periodicity, which strongly influences the lattice-coupled phase transitions in charge and spin degrees of freedom. However, previous methods of manipulating phonons have been limited to controlling the periodicity of superlattice, rather than utilizing complex mutual interactions that are prominent in transition metal oxides. In this study on oxide superlattices composed of ferromagnetic metallic SrRuO3 and quantum paraelectric SrTiO3 , phonon modulation by controlling the geometry of superlattice in atomic-scale precision is realized, demonstrating the coherent phonon engineering using structural and …

Repeated Shifts In Sociality Are Associated With Fine-Tuning Of Highly Conserved And Lineage-Specific Enhancers In A Socially Flexible Bee, Beryl M. Jones, Andrew E. Webb, Scott M. Geib, Sheina Sim, Rena M. Schweizer, Michael G. Branstetter, Jay D. Evans, Sarah D. Kocher

Entomology Faculty Publications

Comparative genomic studies of social insects suggest that changes in gene regulation are associated with evolutionary transitions in social behavior, but the activity of predicted regulatory regions has not been tested empirically. We used self-transcribing active regulatory region sequencing, a high-throughput enhancer discovery tool, to identify and measure the activity of enhancers in the socially variable sweat bee, Lasioglossum albipes. We identified over 36,000 enhancers in the L. albipes genome from 3 social and 3 solitary populations. Many enhancers were identified in only a subset of L. albipes populations, revealing rapid divergence in regulatory regions within this species. Population-specific enhancers …

The Role Of Siamese In G2 Checkpoint Regulation In Arabidopsis Thaliana, Martha A. Schwall

LSU Doctoral Dissertations

Cyclin-cyclin dependent kinase (Cyclin-CDK) pairs regulate progression through the checkpoints of the cell cycle. They bind with some specificity and must be bound to for their regulative properties to be active. The presence of cyclin-CDKs is conserved throughout eukaryotes, while differences in specifics exist between yeast, animals, and plants. In Arabidopsis, SIAMESE (SIM) is a CDK inhibitor that restricts progression through mitosis. Overexpression of SIM is required for endoreplication in Arabidopsis trichomes, and overexpression of SIM results in increased endoreplication in leaf epidermal cells. SIM is expressed at high levels in the root elongation zone, where it plays a …

Dynamic Dysregulation Of Retrotransposons In Neurodegenerative Diseases At The Single-Cell Level\, Wankun Deng, Citu Citu, Andi Liu, Zhongming Zhao

Faculty, Staff and Student Publications

Retrotransposable elements (RTEs) are common mobile genetic elements comprising ∼42% of the human genome. RTEs play critical roles in gene regulation and function, but how they are specifically involved in complex diseases is largely unknown. Here, we investigate the cellular heterogeneity of RTEs using 12 single-cell transcriptome profiles covering three neurodegenerative diseases, Alzheimer's disease (AD), Parkinson's disease, and multiple sclerosis. We identify cell type marker RTEs in neurons, astrocytes, oligodendrocytes, and oligodendrocyte precursor cells that are related to these diseases. The differential expression analysis reveals the landscape of dysregulated RTE expression, especially L1s, in excitatory neurons of multiple neurodegenerative diseases. …

Adding Gastrointestinal Parasite Resistance To The Breeding Objective In Hair Sheep: Initial Step, Robert M. Forbes, Thomas W. Murphy, Joan M. Burke, David R. Notter, Matthew L. Spangler, Michael D. Macneil, Ronald M. Lewis

Department of Animal Science: Faculty Publications

The U.S. Maternal Hair Index was designed by the National Sheep Improvement Program (NSIP) to increase total weight of lamb weaned per ewe lambing (TW). Producers are interested in adding gastrointestinal nematode (GIN) resistance to this breeding objective since parasitism causes substantial economic losses. The NSIP provides producers with estimated breeding values (EBV) for postweaning fecal egg count (PFEC), an indicator of GIN resistance. Our objective was to gauge the effects of including PFEC as another selection criterion and goal trait. Selection index theory was used to construct 11 indexes. …

The Primacy Of Density-Mediated Indirect Effects In A Community Of Wolves, Elk, And Aspen, Elaine M. Brice, Eric J. Larsen, Daniel R. Stahler, Daniel R. Macnulty

Aspen Bibliography

The removal or addition of a predator in an ecosystem can trigger a trophic cascade, whereby the predator indirectly influences plants and/or abiotic processes via direct effects on its herbivore prey. A trophic cascade can operate through a density-mediated indirect effect (DMIE), where the predator reduces herbivore density via predation, and/or through a trait-mediated indirect effect (TMIE), where the predator induces an herbivore trait response that modifies the herbivore's effect on plants. Manipulative experiments suggest that TMIEs are an equivalent or more important driver of trophic cascades than are DMIEs. Whether this applies generally in nature is uncertain because few …

A Long-Recognized But Undescribed New Species Of Cyprinella (Cypriniformes: Leuciscidae) From North Carolina And South Carolina, United States, Bryn H. Tracy, Fred C. Rohde, Michael A. Perkins, Laura M. Lee, Kara B. Carlson, Madelyn Mccutcheon, Brena K. Jones, Heather K. Evans

Southeastern Fishes Council Proceedings

Cyprinella leptocheilus sp. nov., Siouan Thinlip Chub, is described as a new species that is endemic to Sand Hills and upper Coastal Plain streams in North Carolina and South Carolina. Recognized as an undescribed species since the early 1970s, this fish was known in the literature and in museum electronic databases as Hybopsis n. sp., H. sp. cf. zanema, Cyprinella n. sp., and C. sp. cf. zanema. Unofficially, it had gone by the common name Thinlip Chub. It was thought to be closely related to the two other barbeled Cyprinella species: Thicklip Chub, …