Genetics and Genomics Commons^™

Statistical Approaches Of Gene Set Analysis With Quantitative Trait Loci For High-Throughput Genomic Studies., Samarendra Das

Electronic Theses and Dissertations

Recently, gene set analysis has become the first choice for gaining insights into the underlying complex biology of diseases through high-throughput genomic studies, such as Microarrays, bulk RNA-Sequencing, single cell RNA-Sequencing, etc. It also reduces the complexity of statistical analysis and enhances the explanatory power of the obtained results. Further, the statistical structure and steps common to these approaches have not yet been comprehensively discussed, which limits their utility. Hence, a comprehensive overview of the available gene set analysis approaches used for different high-throughput genomic studies is provided. The analysis of gene sets is usually carried out based on …

Characterization Of Adiposity And Inflammation Genetic Pleiotropy Underlying Cardiovascular Risk Factors In Hispanics., Mohammad Yaser (Anwar)

Electronic Theses and Dissertations

The observed overlap between genetic variants associated with both adiposity and inflammatory markers suggests that changes in both adiposity and inflammation could be partially mediated by common pathways. The pervasive but sparsely characterized “pleiotropic” genetic variants associated with both adiposity and inflammation have been hypothesized to provide insight into the shared biology. This study explored and characterized the genetic pleiotropy underpinning adiposity and inflammation using genetic and phenotypic observations from the Cameron County Hispanic Cohort (CCHC). A total of 3,313 samples and >9 million single nucleotide polymorphisms (SNPs) were examined in this study. Mixed model genome-wide association studies (GWAS) were …

From Phocine Distemper To Avian Influenza: A Study Of Immunogenetic Diversity In Two Sympatric Pinniped Species, Alayna K. Gigliotti

Electronic Theses and Dissertations

Gray (Halichoerus grypus) and harbor (Phoca vitulina) seals are sympatric species that inhabit the North Atlantic and have been subject to mortality events from disease outbreaks, particularly phocine distemper and avian influenza virus. Across mortality events, gray seals tend to exhibit a higher survival rate, which could be explained by various ecological factors impacting rates or direction of selection in parts of the genome related to the immune system. These factors could include haul-out site density, habitat, and degree of inter/intraspecies interaction. This research aims to compare genetic diversity within the Major Histocompatibility Complex (MHC) class …

Genes Involved In Nitrogen Assimilation In Ustilago Maydis., Sunita Khanal

Electronic Theses and Dissertations

U. maydis can utilize nitrate as a source of nitrogen from its environment, a process requiring a nitrate transporter to bring the nitrate inside the cell. This is followed by a two-step reduction of nitrate to ammonium. At first, nitrate reductase reduces nitrate into nitrite; in the second reaction, nitrite is reduced to ammonium by nitrite reductase. The goal of the study was to identify the nitrate transporter and nitrite reductase genes in U. maydis and characterize them based on their role in mating and virulence. The genes um03848 and um03849 were identified bioinformatically as encoding, respectively, the nitrite reductase …

Comparative Secretomics And Functional Analysis Of Effectors Utilized By The Microbotryum Genus Of Anther-Smut Fungal Pathogens, And Their Role In Host-Specificity., William Christopher Beckerson

Electronic Theses and Dissertations

Understanding how pathogens evolve in response to changes in their host is paramount to combating the spread of emergent strains of disease. This is particularly true for plant pathogens that cause billions of dollars of damages to crops globally, every year. Understanding the molecular interactions between pathogens and their hosts therefore sheds light on the coevolutionary arms race that can result in host-specificity and host-shifts in plant pathogens. This research approaches the question of how fungal pathogens interact with their plant hosts utilizing both unique and shared arsenals of secreted proteins (SPs) during infection, and addresses the question of whether …

A Genomic Analysis Of Bobcat Populations In North America With A Comparison To The Canada Lynx: An Assessment Of Local Adaptation To Unique Ecoregions And Phylogeography, Jennifer C. Broderick

Electronic Theses and Dissertations

Bobcats (Lynx rufus) are an ecologically and genetically diverse species with a large contiguous range throughout North America. The species not only has a wide array of phenotypic variation compared to other mammals, but shows marked adaptability across ecozones with differing ecological influences. It is these various selective pressures in distinctive parts of the continent that have likely led to localized adaptations within the bobcat metapopulations. The species is also marked by its ability to maintain connectivity and populations in anthropogenically developed areas, an advantage it has over other felids, including its close relative the Canada lynx ( …

Population Structure And Reproductive Biology Of Monilinia Vaccinii-Corymbosi (Reade) Honey In Lowbush Blueberry In Maine, Katherine A. Ashley

Electronic Theses and Dissertations

Lowbush blueberry, Vaccinium angustifolium Aiton, is both an economically and culturally important crop in Maine, being one of the few endemic crops to North America. The fungus Monilinia vaccinii-corymbosi (Mvc) causes mummy berry disease and is a significant pathogen of both highbush (Vaccinium corymbosum) and lowbush blueberries. While impacts of this disease are not regularly documented, it is estimated that 30-50% of the yield in an unmanaged field can be lost because of Mvc. This disease is typically managed with fungicides or burning of the field during years when the field is pruned, however, the impacts to the …

Analysis Of Two Maize Mutations That Arose After Exposure To Radiation From A Plutonium-Beryllium Source And Developing Molecular Markers For Antimorph Aei1-5180, An Alternative To Aei To Increase Amylose Content In Maize Endosperm, Prameela Awale

Electronic Theses and Dissertations

This thesis consists of two independent projects dealing with two different aspects of maize. The first project is about the maize reproduction, where we try to uncover the candidate genes of two mutations that affect pollen viability and successful fertilization. The second project is about maize endosperm starch, where we developed molecular markers to characterize a mutant allele that knocks a major starch branching enzyme in maize.

Analysis of two maize mutations that arose after exposure to radiation from a plutonium-beryllium source
Maize is a monoecious and diclinous plant. Sexual reproduction takes place by the fusion of haploid male and …

Functional Analysis Of Squamosa-Promoter Binding Protein Like 13 In Controlling Flowering Time, Plant Architecture, Grain Size, And Grain Number In Wheat, Ajay Gupta

Electronic Theses and Dissertations

Higher and stable yield is always a major objective of wheat genetic improvement programs. The SQUAMOSA-promoter binding protein-like (SPL) genes constitute a small family of plant-specific transcription factors with diverse functions in plant development and growth and have great potential in improving yield and other major agronomic traits. However, the functional characterization of the SPL gene family in wheat is far behind other cereal crops such as rice. Using phylogenetic analysis, we identified 56 wheat orthologues of rice SPL genes belonging to 19 homoeologous groups. Among these 19 orthologous TaSPL genes, nine harbor the micro RNA 156 recognition element (MRE) …

In Situ Analysis Of Line-1 Promoter Activity Using Lacz Transgenic Mice, Partha Sarathi Saha

Electronic Theses and Dissertations

Apart from an evolutionary role, transposable elements have been implicated in animal development and also in pathophysiology. Non-LTR retrotransposons– LINE-1, Alu and SVA - are responsible for over 120 cases of human genetic diseases as heritable insertions, and are emerging as an important etiological factor for cancer and neurological disorders as somatic mutations. It is estimated that among the total number of 500,000 LINE-1s presents in the human genome, 80-100 LINE-1s remain competent for retrotransposition. Retrotransposition is only possible when LINE-1 is expressed. Because LINE-1 transcription is regulated by its 5’UTR promoter, it is essential to understand the spatiotemporal control …

Crispr/Cas9 Whole Genome Screens Reveal Novel Regulators Of Endocytic Processes In Macrophages, Jared Wollman

Electronic Theses and Dissertations

Macrophages maintain tissue homeostasis by identifying and eliminating threats within their tissue microenvironment. Pattern recognition receptors allow macrophages to recognize and internalize specific ligands while macropinocytosis allows the internalization of all extracellular solutes from their environment. Without pattern recognition receptors, pathogens may grow unchecked if they cannot be detected, and without macropinocytosis, macrophages struggle to detect and move around their environment. This thesis presents the results of CRISPR/Cas9 whole-genome screens used to identify the regulators of both endocytosis (Chapter 2) and macropinocytosis (Chapter 3). In Chapter 2, we report genes regulating dextran uptake in primary murine macrophages and reveal Mrc1-mediated …

Human Genetics, Psychotropic Drugs, And Acts Of Violence, Selma Jolanda Eikelenboom-Schieveld

Electronic Theses and Dissertations

From the start of the use of psychoactive prescription medications in the 1950s, physicians reported paradoxical adverse reactions, ranging from newly developing depressions to an increase in existing mood disorders, and extremely violent and bizarre acts of suicide and homicide. In this research, it is hypothesized that the pharmacological properties of the prescribed drugs or the interaction between the drugs and the enzymes that are primarily responsible for their metabolism (cytochrome P450s) could cause these reactions. Given that acts of violence could be medication-induced, the role of the rate of drug metabolism is discussed. Genetic testing of certain CYP450s could …

Examining Biodiversity Metrics And The Utility Of Dna Barcoding In The Northern Great Plains, Sarah Herzog

Electronic Theses and Dissertations

Due to heavy threats to remaining global floral and faunal diversity, it is imperative we can identify species and quantify ecosystem health to find best practices for land management and conservation. The tallgrass prairies of the Northern Great Plains are one example of a heavily imperiled ecosystem. The tallgrass prairies have been reduced to less one percent of their historical extent and are facing continued loss. Genetic approaches and evolutionary theory offer insights for identifying species and assessing how biodiversity metrics may correlate with ecosystem processes. My two projects aim to address two facets imperative to conservation in the tallgrass …

Plasticity And The Impact Of Increasing Temperature On A Tropical Ectotherm, Adam A. Rosso

Electronic Theses and Dissertations

Organisms may respond to climate change through behavior, genetic adaptation, and/or phenotypic plasticity. Tropical ectotherms are thought to be especially vulnerable to climate change because most have a narrow range of thermal tolerance while living close to their upper thermal tolerance limits. Additionally, many tropical species live in closed-canopy forests, which provide homogenous thermal landscapes that prevent behavioral compensation for stressfully warm temperatures. Finally, tropical ectotherms are thought to have decreased capacity for phenotypic plasticity because they have evolved in thermally stable environments. We tested gene expression patterns and phenotypic plasticity in the Panamanian slender anole by a) measuring changes …