Life Sciences Commons^™

From Inbreeding To Admixture: How The Diverse Consequences Of Gene Flow Shape Evolutionary Dynamics And Population Viability, Amy L. Springer

All Graduate Theses and Dissertations, Fall 2023 to Present

When Homo sapiens traveled out of Africa and interbred with the Neanderthals of Europe, human genes spread into the Neanderthal population. Likewise, genes from Neanderthals spread into the human genome—genes humans still carry to this day. The process whereby genetic material from one population is spread to another is known as gene flow. Gene flow—or the absence thereof—can have critical consequences for a population’s health and survival. On one hand, if no gene flow occurs, mating among close relatives can lead to high levels of inbreeding. Inbreeding can have devastating consequences for the health of populations, in some cases even …

Systematics And Comparative Genomics Of The Petaluridae (Odonata: Anisoptera), Ethan R. Tolman

Dissertations, Theses, and Capstone Projects

The Anisoptera (Insecta: Odonata), or dragonflies exhibit diverse life histories and diversification patterns, with the family Petaluridae standing out as particularly unique. Comprising only 11 extant species, all of which inhabit increasingly threatened fen habitats, Petaluridae are known for their longevity, which can exceed five years, semi-terrestrial lifestyle, and remarkable physical size, ranking among the largest insects on Earth. Despite the evolutionary peculiarities of this family, no previous genomic studies have investigated the Petaluridae. This work presents two high-quality genome sequences and a targeted enrichment dataset to explore the chromosome architecture of Petaluridae, identifies genomic adaptations associated with their distinctive …

Omani Camels From A Cultural And Genomics Perspective, Al Muatasim Al Zadjali

Electronic Theses and Dissertations

The Dromedarian camel, Camelus dromedarius, is native to the Arabian Peninsula, including the Sultanate of Oman. These camels are used for food, milk, as well as show and racing competitions. Despite their economic and cultural importance research on camels in Oman is limited. The goal of this study was to examine their genomic variation, relationship with camels in other parts of the Arabian Peninsula, and to determine if selective breeding has led to the establishment of distinct breeds in Oman. Information was compiled from multiple sources to produce a comprehensive review on the breeding, management, economic and cultural use, …

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 …

Defining A Haplotype Encompassing The Lcorl-Ncapg Locus Associated With Increased Lean Growth In Beef Cattle, Leif E. Majeres

Masters Theses

Numerous studies have shown genetic variation at the LCORL-NCAPG locus is strongly associated with growth traits in beef cattle. However, a causative molecular variant has yet to be identified. To define all possible candidate variants, 34 Charolais-sired calves were whole genome sequenced including 17 homozygous for a long-range haplotype associated with increased growth (QQ), and 17 homozygous for potential ancestral haplotypes for this region (qq). The Q haplotype was refined to an 814-kb region between chr6:37,199,897-38,014,080 and contained 218 variants not found in qq individuals. These variants include an insertion in an intron of NCAPG, …

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 …

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 …

The Influence Of Drd2 Polymorphism Exon 8 C/T (Rs6276) On Manifestations Of Delirium Tremens & Alcohol Withdrawal Seizures, Naomi Schneider

Honors Theses and Capstones

This study explores the correlation between the DRD2 Polymorphism exon 8 C/T (rs6276) and manifestations of delirium tremens (DT). DT is a condition that is clinically diagnosed utilizing two characteristic symptom manifestations: the presence of delirium and severe alcohol withdrawal. It is not entirely understood why DT can occur in some patients, but evidence has suggested that genetic predisposition can play a role. Utilizing the National Institutes of Health (NIH) All of Us Research database and performing a secondary analysis of existing genomic data, this candidate gene association study aims to determine the genotype frequencies within three cohorts: a healthy …

Personalized Molecular Therapies For Advanced Non-Small Cell Lung Cancer: Overcoming Heterogeneity To Optimize Treatment Response And Clinical Outcomes, Zuan-Fu Lim

Graduate Theses, Dissertations, and Problem Reports

Lung cancer remains one of the deadliest cancers. Novel, paradigm shifting treatments including immunotherapy and targeted therapies have recently been developed to cull the deadly effects of lung cancer, but many challenges remain. There remains a significant unmet need to accurately predict and optimally select for patients who will respond to immune checkpoint inhibitors (ICI) treatment. In Chapter 2 of this dissertation, we investigated a novel live single cell cytokine profiling lab-on-chip platform, IsoLight, using peripheral CD4+ and CD8+ T-cells for ICI biomarker development. A total of 55,175 single T-lymphocytes were analyzed in this proof-of-concept study. We found that an …

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 …

Metapopulation Genomics Of American Goshawks In The Intermountain West, Megan M. Sidran

All Graduate Theses and Dissertations, Fall 2023 to Present

Understanding a species dispersal ecology and population dynamics is essential to effectively manage and conserve a species. As advancing technology improves our knowledge of species movements, it is becoming clear that many species form metapopulations to some extent. A metapopulation is a network of interconnected subpopulations that exchange reproductive individuals with subpopulations occupying nearby patches. Metapopulations have been observed in a variety of species, ranging from plants to vertebrates, and can vary greatly in their dynamics (level of connectivity and gene flow) based on the species behavior and life history strategy.

Forming a metapopulation can add much resilience to the …

Using Novel Phenotypes To Understand And Predict Fertility In Beef Cows, Cassidy Catrett

Masters Theses

Reproduction plays a major role in the production efficiency of livestock species. However, cow-centric reproductive traits are lowly heritable and are not expressed until later in an animal’s lifetime, making phenotypic selection ineffective at generating genetic gain. We can generate genetic progress by focusing selection on the genetic component of reproductive traits using Expected Progeny Differences (EPDs). We used the American Simmental Association’s performance and Total Herd Enrollment data, made up of 533,155 calving records from 303,158 females (132,403 cows and 170,755 heifers), 33,732 of which are genotyped, to develop two continuous and two discrete phenotypes focused on quantifying early …

Anything But Bland: Uncovering The Hidden Diversity And Genomic Origin Of The Threatened Vanilla Spice, Paige Ellestad

Boise State University Theses and Dissertations

Conserving the genetic diversity of crop species and their wild relatives has become a mounting concern as the detrimental effects of climate change, habitat destruction, and genetic erosion are being realized. In this epoch of unprecedented biodiversity loss, the genetic resources needed to improve crops may be at risk of extinction. Even one of the most iconic spices, vanilla, is threatened. Wild populations of the main vanilla producing species, Vanilla planifolia Andrews (Orchidaceae), are being rapidly extirpated due to deforestation and illegal harvesting in their native range. On top of that, clonal propagation methods within cultivated plants are hypothesized to …

Characterization Of The Immunoglobulin Lambda Chain Across Diverse Human Populations., William Gibson

Electronic Theses and Dissertations

The adaptive immune system relies on a diverse set of over one hundred immunoglobulin (IG) genes across three genomic loci that are variably combined to form antibodies (Ab). The IG Lambda locus is one of two loci which encodes the IG light chain. The complexity of the IGL locus severely limits the effective use of standard short-read sequencing, limiting our knowledge of population diversity in these loci. We leveraged single molecule real-time (SMRT) long-read sequencing in conjunction with IGL-targeted DNA capture to develop the method IG-Cap for accurate and high-throughput sequencing of the IGL locus. We benchmarked this method using …

Identifying Genetic Sources Of Anthracnose Resistance In Global Sorghum Lines, Mary-Frances Behnke

All Theses

Anthracnose of sorghum (causal agent: Colletotrichum sublineola) is the most detrimental disease of sorghum (Sorghum bicolor) worldwide, significantly reducing grain yield. This study includes a literature review of the disease and a meta-analysis of genome-wide association studies (GWAS) of anthracnose-resistance in sorghum as means to elucidate genetic sources of the trait. The meta-analysis includes genotypic and phenotypic data from 5 unique studies and 1,071 sorghum lines. Original genotyping-by-sequencing data from were obtained primarily from National Center for Biotechnology Information’s Sequence Read Archive (NCBI-SRA) and prepared and processed using the Tassel 5 GBS v2. pipeline. Phenotypic data were …

The Evolution Of Transposable Elements As Cis-Regulatory Elements In Mammals, Alan Y. Du

Arts & Sciences Electronic Theses and Dissertations

Transposable elements (TEs) are mobile genetic elements that make up a large proportion of mammalian genomes. Although TEs are highly prevalent genomic sequences, they have been understudied as they were once labeled as “junk DNA.” Despite their initial status as simple genomic parasites, recent studies have implicated TEs as cis-regulatory elements, supplying promoters, enhancers, and boundary elements. Functional testing of regulatory activity, however, remains a significant bottleneck. Nonetheless, due to their repetitive nature, TEs provide a unique model to examine the evolution of cis-regulatory elements, which has traditionally been difficult to study due to lack of homology at the sequence …

Assessing Genomic Literacy In Advanced Practice Nursing Students Before And After An Intervention, Guiselle Palomera

Doctor of Nursing Practice Final Manuscripts

Introduction

The purpose of this evidence-based Doctor of Nursing Practice (DNP) project was to examine genetics and genomics literacy in advanced practice nursing students before and after an intervention.

Background

As genomics continue to play an emerging role in healthcare, and advancements are introduced into clinical practice, it is critical that nurses be competent in genetics and genomics concepts. There is a fundamental need to incorporate genomics education into nursing school curriculum. However, studies have shown that the majority of faculty across nursing schools in the United States are ill-equipped to teach genetics and genomics concepts. Furthermore, many interventions to …

Proximate Causes Of Alternative Reproductive Tactics In Blue Ridge Two-Lined Salamanders (Eurycea Cf. Wilderae), Yatin Kalki

Master of Science in Integrative Biology Theses

Alternative reproductive tactics (ARTs) refer to discrete variation in reproductive behavior between members of a sex and within a species. ARTs are present in Blue Ridge two-lined salamanders (Eurcyea cf. wilderae) in the form of male polymorphism. Two male morphs exist: “searching” males and “guarding” males. Each phenotype has a unique reproductive ecology and associated discrete morphological differences. Another trait that shows discrete variation in E. cf. wilderae is the larval period, which may be one or two years in length. This thesis explores the proximate causes of ARTs in a population of E. cf. wilderae from the …

The Genomics Of Autism-Related Genes Il1rapl1 And Il1rapl2: Insights Into Their Cortical Distribution, Cell-Type Specificity, And Developmental Trajectories, Jacob Weaver

MUSC Theses and Dissertations

Neuropsychiatric disorders have a significant impact on modern society. These disorders affect a large percentage of the population: schizophrenia has a world-wide prevalence of 1% and autism spectrum disorders (ASD) affects 1 in 59 school-aged children in the US. There is substantial evidence that most neuropsychiatric disorders have a genetic component. Thus, with the advent of high throughput sequencing much effort has gone into identifying genetic variants associated with these disorders. The emerging picture from these studies is a complex one where hundreds of genes with small effects interact with a varied landscape of common variants to result in disease. …

Targeted Mapping Of Oryza Sativa Chilling Tolerance Candidate Genes Using Multiple Stress-Relevant Quantitative Traits, Naoki Simon Shimoyama

Dissertations (1934 -)

Developing chilling tolerant accessions of domesticated Asian rice is a potential source of significant crop improvement to address the needs of a growing global population. The uniquely chilling sensitive nature of the tropically originating Oryza sativa make it the most important staple crop that could gain the maximum benefit from improved tolerance to low temperature stress. However, mechanisms underlying this complex trait are not fully understood. Oryza sativa has two major varietal groups with different levels of chilling tolerance, JAPONICA and INDICA, providing an ideal tool to investigate mechanistic differences in the chilling stress tolerance responses within this important crop …

Statistical Analysis Of Ribonucleotide Incorporation In Human Cells, Tejasvi Channagiri

USF Tampa Graduate Theses and Dissertations

During the DNA replication process, ribonucleotides, the building blocks of RNA, may be occasionally incorporated in the newly synthesized DNA. DNA is primarily composed of deoxyribonucleotides and there exist cellular mechanisms for removing ribonucleotides from DNA, which may point towards ribonucleotide incorporation being a replication error. Further, an excess of these ribonucleotides in the genome has been known to lead to genomic instability and has been implicated in human diseases. However, there are also hypotheses that suggest that ribonucleotides may be beneficial in certain circumstances. In this study we examine ribonucleotide incorporation in the human genome in several human cell …

Partial Characterization Of Plasmodium Falciparum Genes Implicated In Altered Artemisinin Stress Response, Caroline F. Simmons

USF Tampa Graduate Theses and Dissertations

Malaria is a parasitic illness caused by the Plasmodium spp., with an estimated 247 million malaria cases reported in 2021 across 84 endemic countries. Treatment of the deadliest malaria parasite, P. falciparum, relies on artemisinin combination therapies (ACTs). However, while ACTs have greatly decreased malaria mortality, this progress is threatened due to artemisinin (ART) partial resistance and ACT failure in Southeast Asia and Sub-Saharan Africa. SNPs to the Kelch13 (K13) gene are a well-characterized marker for ART resistance. However, increasing evidence that resistance to ART mediated by genes not related to K13 SNPs prompts the need to characterize other novel …

Incorporating Sex Chromosomes In Transcriptome Prediction Models And Improving Cross-Population Prediction Performance, Daniel S. Araujo

Master's Theses

Transcriptome prediction models built with data from European-descent individuals are less accurate when applied to different populations because of differences in linkage disequilibrium patterns and allele frequencies. We hypothesized multivariate adaptive shrinkage may improve cross-population transcriptome prediction, as it leverages effect size estimates across different conditions - in this case, different populations. To test this hypothesis, we made transcriptome prediction models for use in transcriptome-wide association studies (TWAS) using different methods (Elastic Net, Matrix eQTL and Multivariate Adaptive Shrinkage in R (MASHR)) and tested their out-of-sample transcriptome prediction accuracy in population-matched and cross-population scenarios. Additionally, to evaluate model applicability in …

Genetic Evaluation Of The Current Distribution And Possible Diffrentations Between Lasiurus Borealis And Lasiurus Frantzii In Southwestern North America, Zeinab M. Haidar

Cal Poly Humboldt theses and projects

Several recent accounts of overlap and historic misidentifications regarding two species of the genus Lasiurus, Western red bat (Lasiurus frantzii) and Eastern red bat (Lasiurus borealis), have cast doubt on our understanding of their distribution, assumed spatial allopatry, and interactions in the United States Southwest. With the use of morphometrics and genetic sequencing, utilizing tissue collected from specimens throughout California and adjoining states, we have reassessed the current distribution, best practices for field identification, and genetic differentiation between both species. Appropriate species classification by region was achieved utilizing mitochondrial DNA, targeting the cytochrome c oxidase …

Effects Of Riverine Barriers On Avian Evolution In The Amazon Basin, Andre Eugene Moncrieff

LSU Doctoral Dissertations

The high biodiversity found in the Amazon Basin has long captivated the attention of naturalists and evolutionary biologists seeking to explain its origins. Early observations by Alfred Wallace highlighted the role of rivers in delimiting the geographic ranges of many species; furthermore, where rivers narrow towards their headwaters, he noted that some species cross rivers freely. A major goal of this dissertation is to investigate how these and other observations about riverine barriers might inform our understanding of how speciation unfolds in Amazonia. My approach involved generating genomic data with dense geographic sampling for manakins in the genus Lepidothrix, …

Population Genomic Characterization Of Cercospora Janseana On Rice In The Southern United States, Jacob Searight

LSU Master's Theses

Cercospora janseana is the causative agent of narrow brown leaf spot (NBLS). Effort had been undertaken since the 1940’s to control this disease through resistance breeding in the Southern United States. However, a severe epidemic of NBLS in 2006 inspired renewed focus on managing this disease. One tool for managing this disease has been identified among resistant cultivars, the CRSP-2.1 resistance locus to NBLS. One thing limiting the investment and deployment of CRSP-2.1, and other unknown resistance genes, is the historical observation that resistance to NBLS rapidly breaks-down in the field. Together, the rapid breakdown of resistance to NBLS …

Regulation Of T Cell Activation By The Cd5 Co-Receptor And Altered Peptides, Characterization Of Thymidine Kinase-Specific Antibodies, And Integrating Genomics Education In Society, Kiara Vaden Whitley

Theses and Dissertations

Helper T cells (Th) are a vital component of the immune system responsible for directing other immune cells to eliminate pathogens and cancer. Specifically, Th cells facilitate B cell and cytotoxic T cell (Tc) activation and recruitment and enhance their function against cancer and infectious diseases. Th cells are a valuable resource for improving Tc responses in cancer treatment and have become a focus of immunotherapeutic research. While it is increasingly clear that helper T cells serve an important role, the details about which entities produce an effective Th cell response remain unclear. CD5 is a T cell co-receptor that …

Methods And Tools To Improve Performance Of Plant Genome Analysis, Drew Ferrell

Theses and Dissertations

Multi -omics data analysis and integration facilitates hypothesis building toward an understanding of genes and pathway responses driven by environments. Methods designed to estimate and analyze gene expression, with regard to treatments or conditions, can be leveraged to understand gene-level responses in the cell. However, genes often interact and signal within larger structures such as pathways and networks. Complex studies guided toward describing dynamic genetic pathways and networks require algorithms or methods designed for inference based on gene interactions and related topologies. Classes of algorithms and methods may be integrated into generalized workflows for comparative genomics studies, as multi -omics …

A Genomic Investigation Of Divergence Between Tuna Species, Pavel V. Dimens

Dissertations

Effective management and conservation of marine pelagic fishes is heavily dependent on a robust understanding of their population structure, their evolutionary history, and the delineation of appropriate management units. The Yellowfin tuna (Thunnus albacares) and the Blackfin tuna (Thunnus atlanticus) are two exploited epipelagic marine species with overlapping ranges in the tropical and sub-tropical Atlantic Ocean. This work analyzed genome-wide genetic variation of both species in the Atlantic basin to investigate the occurrence of population subdivision and adaptive variation. A de novo assembly of the Blackfin tuna genome was generated using Illumina paired-end sequencing data and …

Genetics And Genomics Education Among Physician Assistants, Wesley Patterson

All Dissertations

This dissertation comprises five chapters to describe genetics and genomics education among physician assistant/associate (PA) students and practicing PAs. Chapter I introduces the gap in supply and demand of genetic services, the need for non-genetics healthcare providers to fill the gap, and the PA profession as a solution.

Chapter II is a rapid literature review that summarizes the available literature regarding genetics and genomics education for PAs. A paucity of literature exists to describe the current state of PA genetics-genomics education. The few studies retrieved describe content being taught in PA programs, the number of genetics-genomics contact hours PA students …