Genetics and Genomics Commons^™

Functional Genomics Of Phosphatidylcholine Biosynthesis In Saccharomyces Cerevisiae, Amanda Marie Maliva

Dissertations and Doctoral Documents, University of Nebraska-Lincoln, 2023–

Phosphatidylcholine (PtdCho) is a prominent structural building block of cell and organelle membranes in animal, plant, and fungal cells and some bacteria. Due to its abundant nature in the plasma membrane and intracellular organelle membranes in eukaryotes, the biosynthesis of PtdCho must remain regulated to preserve the correct membrane lipid composition. Dysregulations in PtdCho metabolism can lead to mitochondrial dysfunction, cell death, and the development of diseases including cancer, atherosclerosis, and hepatic diseases. Knowledge of PtdCho has remained limited to the genes involved in its three biosynthetic pathways (Kennedy (K), methylation (M), and acyltransferase (A)), despite the growing realization of …

Breeding Biofortified Protein Rich Organic Pulses For Better Human Health, Sonia Salaria

All Dissertations

Pulse crops are dry grains of legumes, the second most consumed plant crops in the world after cereals. These crops are one of the primary sources of plant-based protein and contain high concentrations of pre-biotic carbohydrates, minerals and vitamins. Recognizing the health benefits of pulses intake, their demands as sustainable food and changes in people’s diet preferences for plant-based protein have increased awareness for pulses consumption. With this scenario, improving the nutritional profile of pulse crops for rich nutrition has been an opportunity for breeders to explore and tailor the available germplasm to develop nutrient dense pulses. Furthermore, the genomic …

Alternative Therapeutics For Human Breast Cancer: Nutraceutical Underpinnings, In Vitro Metabolomic Profiling, Treatment Efficacy, And Contextual Ethical Implications, Aubrey A. Mattingly

All Dissertations

Breast cancer remains one of the most prevalent diseases worldwide, yet therapeutic equity is still lacking. Standard treatments including surgery, radiotherapy, chemotherapy, and long-term hormone therapy. These approaches are often accompanied by significant side effects. While newer methods such as immunotherapy and targeted therapies have emerged, chemotherapy protocols and incorporation have remained largely unchanged in the past decades. In this context, nutraceuticals represent an alternative or adjuvant to therapy worthy of exploration. The reviewed literature highlights the anti-carcinogenic activity in selected nutraceuticals, marjoram, thyme and persimmon, considering their phytochemical constituents and secondary metabolites. Metabolomic profiling using the Biolog Phenotype Mammalian …

Analysis Of An Ethanol Sensitive Bmp-Nkx2.3-Fgf Signaling Pathway In Pouch Morphogenesis., Hieu Dai Le Vo

Electronic Theses and Dissertations

Craniofacial malformations lie at the heart of Fetal Alcohol Spectrum Disorders (FASD). While there is growing evidence for a genetic component to FASD, little is known of the cellular mechanisms underlying these ethanol-sensitive loci in facial development. Bone Morphogenetic Protein (Bmp) signaling pathway dependent pouch formation is a key mechanism in facial development. We have previously shown that multiple Bmp mutants are sensitized to ethanol-induced facial defects. However, ethanol does not directly impact Bmp signaling. This suggests that downstream effectors, like nkx2.3 and Fibroblast Growth Factor (Fgf) signaling, may mediate the impact of ethanol on Bmp mutants. Here, I …

Exploring Variability Of The Cg18562578 Methylquant Assay For The Forensic Discrimination Of Monozygotic Twins, Sydney E. Arnold

Student Theses

Monozygotic (MZ) twins possess identical DNA sequences, posing a problem for forensic scientists, as they are incapable of distinguishing MZ twins from each other using traditional DNA identification methods. However, the epigenomes of MZ twins will differ and might be used for their forensic discrimination. Here, we explored the variability of an assay previously developed by our laboratory that showed high discrimination potential for MZ twins using buccal swab DNA, cg18562578 MethylQuant. We measured precision at each step: bisulfite conversion, nested PCR, and qPCR, reproducibility, and repeatability. DNA methylation ratios were compared between two analysts carrying each step using the …

Exploring Transcriptional Stress Responses In Sorghum And Evolutionary Insights Into Yth Domain Proteins Across Plants, Shikha Bharti

Theses and Dissertations

Understanding how plants respond to abiotic stress is crucial for enhancing crop resilience in the face of climate change. This thesis explores plant stress adaptation mechanisms through two interlinked studies that address different aspects of gene regulation. The first study investigates the transcriptional dynamics of Sorghum bicolor under drought and heat stress at 1-hour and 6-hour time points. By employing 3'-end RNA sequencing, this study provides a comprehensive temporal view of gene expression changes, revealing stress-responsive transcription factors, hormone-associated pathways, and chromatin regulators. The comparative analysis highlights both common and distinct molecular responses between drought and heat stress, providing insights …

Predicting Genetic Interactions Using Functional Interaction Networks, Iulia Veronica Gheorghe

Dissertations and Theses (Open Access)

Mapping genetic interactions is central to understanding cellular systems and identifying therapeutic vulnerabilities, particularly in the context of cancer. Among these interactions, synthetic lethality, where simultaneous loss of two genes is lethal but loss of either alone is tolerated, offers a powerful framework for selectively targeting tumor-specific dependencies. In model organisms like S. cerevisiae, comprehensive double-knockout screens have revealed detailed genetic interaction maps, enabling systems-level insights into pathway structure, gene function, and cellular organization. Replicating this achievement in human cells, however, is complicated by the scale and complexity of the human genome. Recent advances in genome-wide CRISPR knockout screening have …

Investigating The Role Of The Lysine-Specific Demethylase 4c In Pancreatic Ductal Adenocarcinoma, Mennatallah Shaheen

Dissertations and Theses (Open Access)

Deregulation of proteins involved in chromatin regulation is common in pancreatic ductal adenocarcinoma (PDAC). Lysine demethylase 4C (KDM4C) is one of the chromatin modifying proteins frequently overexpressed across multiple solid cancers and is linked to chromatin instability, increased cell proliferation, and enhanced stem cell-like behavior. We observed upregulation of KDM4C protein in a panel of human PDAC cell lines and patient samples compared to non-neoplastic controls. CRISPR/Cas9-mediated deletion of KDM4C in human and murine PDAC cells reduced proliferation, clonogenicity, and increased survival of orthotopically implanted murine PDAC allografts. Transcriptomic and proteomics analyses revealed that loss of KDM4C in both human …

Associations Of Variation In Mtdna With Feed Efficiency In Beef Cattle And The Evaluation Of Transcriptomic Changes In Fetal Kidney Due To Hydrallantois, Lauren Elizabeth Seier

Department of Animal Science: Dissertations, Theses, and Student Research

Project 1 focused on the central role that mitochondria play in ATP production, highlighting that variation within the mtDNA may influence feed efficiency. Variation in the mitochondrial genome was uncovered, and associations with feed efficiency in beef cattle were identified. Growth and feed intake phenotypes, as well as low-pass sequencing, were collected on beef steers across two populations. Protein coding variants were identified and used to classify animals into mitochondrial haplotypes. A linear mixed model was employed, which detected a significant association between mitochondrial haplotype and DMI. A significant haplotype with a variant in Complex I was associated with reduced …

Identification Of Crustose Coralline Algae Species In Florida And Their Ability To Induce Larval Settlement Of Caribbean Corals, Danielle Macias

All HCAS Student Capstones, Theses, and Dissertations

Crustose coralline algae (CCA) are a diverse, globally spread and yet poorly studied group of benthic organisms. They act as settlement cues for coral larvae, but this interaction is often species-specific, as CCA species can be either inducers or inhibitors to larval settlement and metamorphosis. Despite this importance, information on Caribbean CCA distribution, diversity, and impact on coral species is limited due to the difficulty in identifying them. In the present study, CCA samples were collected from seven different reef sites in the southeastern region of Florida’s Coral Reef and genetically identified using molecular analyses. Some of the samples collected …

Health Patterns Of Dementia Caregivers With Chronic Pain: Latent Profile Analysis Of The Promis-29 Measure, Shelbie G. Turner, Dakota D. Witzel, Shana Garza, Karl Pillemer, M Carrington Reid

Human Genetics Publications

We identified patterns of health and functioning in a national sample of dementia family caregivers experiencing chronic pain (N = 273). Utilizing latent profile analysis of the 29-item Patient-Reported Outcomes Measurement Information System (PROMIS-29), we identified three discrete groups: an average group (48%), a low health challenges group (30%), and a high health challenges group (22%). Women were more likely to be in the high (vs. low) health challenges group. There are discrete health patterns of caregivers with chronic pain, with over 20% reporting comorbid poor health and functioning that may negatively affect caregiving quality. Screening caregivers for high …

The Island Biogeography Of Mangrove-Dwelling Vertebrates: Isolation, Specialisation, And Extinction, Jian Xiong David Tan

Biology ETDs

Mangroves are highly dynamic ecosystems that are widely distributed across the coastlines of the tropics and subtropics. Despite their low plant diversity, mangroves host a disproportionately high number of terrestrial vertebrate taxa. However, mangrove specialists — taxa that only occur in mangrove habitats — exhibit a global distribution that is incongruous with the broader background distribution patterns of mangrove-associated fauna, exhibiting higher diversity in Australia and Southeast Asia. This dissertation therefore aims to assess how the diversity and distribution of mangrove specialist fauna may have been shaped by the historical biogeography of mangroves, and the effects of mangrove specialisation on …

Transformation With Genes To Improve Lipid Production And Barcoding To Identify Unknown Algal Species, Michelle T. Rada

Theses and Dissertations

With the rising demand for alternative fuels, algal-based biofuels are a promising, sustainable source that meets commercial interest while producing lower greenhouse gas emissions compared to fossil fuels. This thesis explored two studies, evaluating microalgae for their future potential in lipid yield for biofuel production.

The first study involved developing a cost-efficient electroporation protocol that allowed for the genetic transformation of Chlamydomonas reinhardtii using the pChlamy_4 vector, which supports future cloning of genes to enhance lipid production. Parameters affecting DNA uptake and integration into algal genomes were studied: the effect of cell density, the settings of the electroporation device, and …

Autism Spectrum Disorder: A Review Of Genomic Risk Factors, Diagnostic And Pharmacotherapeutic Strategies, Zohor Azher

Saudi Toxicology Journal

Autism Spectrum Disorder (ASD) is a multifactorial neurodevelopmental condition characterized by impairments in social communication and delayed language development, repetitive behaviors, and sensory processing abnormalities. The genetic background of ASD remains incompletely understood due to significant genetic heterogeneity and complexity. This review aims to present current insights into the genetic landscape of ASD, focusing on both common and rare genomic variations. We describe candidate genes associated with ASD, as they are involved in synaptic function and neuronal signaling, making these findings potential therapeutic targets. This review emphasizes the importance of integrating comprehensive clinical assessments with advanced genetic investigations to enhance …

Perception Of Quality Of Life, Brain Regions, And Cognitive Performance In Hispanic Adults: A Canonical Correlation Approach, Juan C. Lopez-Alvarenga, Jesus D. Melgarejo, Jesus Rivera-Sanchez, Lorena Velazquez-Alvarez, Rosa V. Pirela, John Blangero, Jose E. Cavazos, Michael C. Mahaney, Joseph D. Terwilliger, Gladys E. Maestre

School of Medicine Publications

The quality of life (QoL) perception has been studied in neurological diseases; however, there is limited information linking brain morphological characteristics, QoL, and cognition. Human behavior and perception are associated with specific brain areas that interact through diffuse electrochemical networking. We used magnetic resonance imaging (MRI) to analyze the brain region volume (BRV) correlation with the scores of Rand’s 36-item Short Form Survey (SF-36) and cognitive domains (memory and dementia status). We analyzed data from 420 adult participants in the Maracaibo Aging Study (MAS). Principal component analysis with oblimin axis rotation was used to gather redundant information from brain parcels …

Changing Aspen Stand Structure Following Large Carnivore Restoration In Yellowstone, Luke E. Painter, Robert L. Beschta, William J. Ripple

Aspen Bibliography

Restoration of large carnivores in northern Yellowstone National Park in the late 20th century resulted in a sustained reduction of Rocky Mountain elk (Cervus canadensis) and their herbivory, facilitating new growth of quaking aspen (Populus tremuloides) saplings. In 2020–21, we examined 87 randomly selected, previously sampled aspen stands across northern Yellowstone, combining random plots with stand-wide observations. Forty-three percent of stands contained a new cohort of small trees (5–10 cm dbh), the first documented recruitment of overstory aspen trees in northern Yellowstone since the 1940s. Both aspen saplings ( ≥2 m tall) and small trees were …

Exploring How People Become Investigative Genetic Genealogists Who Assist With Law Enforcement Investigations: A Multiple Case Study, Matthew Serio Hoggatt

Doctoral Dissertations and Projects

In today’s world of criminal justice, the use of Deoxyribonucleic Acid, otherwise known as DNA, to solve crimes, has become a popular tool for law enforcement, and a popular subject plot within the entertainment industry. Also growing in popularity at a fast rate, is the use of DNA combined with consumer-based genealogy websites to help identify unknown suspects or unidentified human remains. This process has become commonly known as investigative genetic genealogy (IGG), or forensic investigative genetic genealogy (FIGG). What remains unclear however, is how people learn the skills necessary to establish a career within the IGG field. The purpose …

Longitudinal Changes In Infant Attention-Related Brain Networks And Fearful Temperament, Courtney A. Filippi, Alice Massera, Jiayin Xing, Hyung G. Park, Emilio A. Valadez, Jed T. Elison, Dana Kanel, Daniel Samuel Pine, Nathan A. Fox, Anderson M. Winkler

Human Genetics Publications

Background: Anxiety disorders may partly stem from altered neurodevelopment of attention-related networks. Neonatal alterations in resting-state functional connectivity (rsFC) among the dorsal attention network (DAN), frontoparietal network (FPN), salience network (SN), and default mode network (DMN) relate to fearful temperament, a risk marker for anxiety. Nevertheless, few studies have examined the development of these networks beyond the first months of life, particularly in fearful infants. In this study, we examined how changes in these networks during the first 2 years of life relate to fearful temperament.

Methods: Using data from the Baby Connectome Project (from 180 infants across 396 sessions), …

Canopy Insect Communities Are Shaped By The Genes And Phenotypes Of Their Aspen Hosts, Clay J. Morrow, Jennifer Lind-Riehl, Christopher T. Cole, Kennedy Rubert-Nason, Cécile Ané, Richard L. Lindroth

Aspen Bibliography

1. Community genetics research aims to identify genetic and phenotypic mechanisms that shape communities as extended phenotypes. To date, most progress has been made identifying variation in herbivore communities associated with intraspecific variation in plants, with little focus on identifying specific genes or traits responsible for that variation. Here, we identify how extended phenotype variation of a foundation tree species, Populus tremuloides, arises from trait variation among individuals and specific genes. 2. We quantified heritability for 13 tree traits -- including phenology, defense chemistry, reproduction, and morphology -- and for 18 associated insect species (640,557 individuals). We performed genomic …

Human Development, Inequality, And Their Associations With Brain Structure Across 29 Countries, Vicente Medel, Luz M. Alliende, Richard Bethlehem, Jakob Seidlitz, Grace Ringlein, Celso Arango, Aurina Arnatkevičiūtė, Laila Asmal, Mark Bellgrove, Anderson M. Winkler

Human Genetics Publications

Background: The macro-social and environmental conditions in which people live, such as the level of a country’s development or inequality, are associated with brain-related disorders. However, the relationship between these systemic environmental factors and the brain remains unclear. We here aimed to determine the association between the level of development and inequality of a country and the brain structure of healthy adults.

Methods: We conducted a cross-sectional study pooling brain imaging (T1-based) data from 145 magnetic resonance imaging (MRI) studies in 7,962 healthy adults (4,110 women) in 29 different countries. We used a meta-regression approach to relate the brain structure …