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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 …

The Effect Of Genetic Relatedness On Mate Selection And Spatial Distribution In The American Alligator, Alligator Mississippiensis, Mark Hoog

Electronic Theses and Dissertations

To date, most genetic studies on the American alligator (Alligator mississippiensis) have focused on population genetics and multiple paternity. There have not been any studies looking at how relatedness affects alligator behavior and movement. This study focused on three main questions: 1) what is the genetic diversity among alligators in this location? 2) can parentage be accurately defined among parents and offspring? and 3) how does individual relatedness affect their spatial distribution? We examined the relatedness of 174 unique individuals from the Okefenokee Swamp Park, in South Georgia, USA. In addition, we placed Telonics^® satellite tags on …

Unraveling Dna And Identity: A Humanistic Perspective On Epistemologies And Ethics Of Genetic Ancestry Testing., Eve Carlisle Polley

Electronic Theses and Dissertations

The advent of DNA ancestry testing motivated a burst of human activities that constitute a scientific-technological-industrial-personal-social movement of immense scale, infused with epistemological and ethical questions of great and important variety. This movement has motivated many discourses in the social sciences, with study subjects ranging from the language usage of geneticists, to moral conundrums faced by test-takers, to potential ramifications in global structures of political power. At the same time, and especially in recent decades, the discourses of the comparative humanities have included with increasing frequency and urgency research and theorization about concepts and consequences of human social identities, alongside …

The Role Of Foxd1 In Clear Cell Renal Cell Carcinoma, Kyle H. Bond

Electronic Theses and Dissertations

Renal cell carcinoma (RCC) is the 8^th most common cancer in the United States, with the clear cell variant (ccRCC) being the most prevalent. Over 14,000 people die every year to RCC, with rates continuing to increase with an aging general population. Patients suffering from metastatic RCC (mRCC) have extremely poor prognoses, with a 5-year survival of only 11.2%. Current treatment options include resection of primary lesions, tyrosine kinase inhibition (Sunitinib, Pazopanib), mTOR inhibition (Temsirolimus, Everolimus), and immune checkpoint inhibition (Nivolumab, Atezolizumab). Recent attention has been drawn to inhibition of transcription factors like HIF2α (Belzutifan). There is a need …

Population Genetic Analyses Of Arctic Char (Salvelinus Alpinus) Life History Types In Nettilling Lake & Amadjuak River Ecosystem: A Test Of Reproductive Isolation, Chen Liu

Electronic Theses and Dissertations

A great number of studies have identified strong genetic differences between sympatric anadromous and resident populations of Salmonidae. However, Arctic char (Salvelinus alpinus) migratory phenotypes in the Nettilling Lake and Amadjuak River ecosystem in Nunavut, Canada have not been genetically characterized, and it remains unclear if distinct genotypes and phenotypes associated with migratory life history differences are maintained through reproductive isolation, and they have been assumed to be sympatric populations, or co-occurring populations. Co-occurring Arctic char (n=225) were sampled from eleven sites along the Amadjuak River in 2014 and 2015. Twelve microsatellite loci were used to quantify genetic variation among …

Conservation Genetics Of Nabalus Serpentarius And Its Common Congener, Nabalus Trifoliolatus (Asteraceae) With Implications On Conservation, Steven Michael Ballou Jr

Electronic Theses and Dissertations

Nabalus serpentarius (Pursh) Hooker is a species of concern to conservation management on the island of Nantucket, MA where four populations have been recently observed. A comparative population genetic study was carried out on N. serpentarius and a common congener, N. trifoliolatus using genetic markers developed from Taraxacum kok-saghyz and Nabalus serpentarius. Evaluations of genetic diversity and population structure of both Nabalus species on Nantucket were conducted. Nabalus serpentarius showed no reduction in population genetic variation as compared to the common congener, and the two species demonstrated similar and very low levels of population genetic structure. These data indicate that …

Precision Medicine And It's Ethical And Social Implications: Public Health And Gobal Persepctives, Evangel Sarwar

Electronic Theses and Dissertations

Ever since President Obama's launch of the Precision Medicine Initiative (PMI) in 2015, precision medicine (PM) has been anticipated as the new paradigm for healthcare with the capacity to “empower patients, researchers, and providers to work together toward the development of individualized care,” through research, technologies, and policies (President Obama, 2015). Precision Medicine (PM), in the form of genomics, offers unprecedented promise of providing new tools for improving health and reducing the burden of diseases, not just for the U.S. - but also globally. According to World Health Organization, genomics research and precision medicine will play a major part in …

The Evolution Of Coral Snake Mimicry, Renan Janke Bosque

Electronic Theses and Dissertations

Scientists have regarded mimicry as one of the most amazing examples of the power of natural selection. Early observations by naturalists of the mimetic association between venomous New World coral snakes of the genus Micrurus and harmless mimics has stimulated an intense debate about the causes and consequences of mimicry that persists today. Despite its medical, evolutionary and historical importance our understanding of evolution within the genus Micrurus is negligible. My dissertation explores the evolution of mimicry within South American coral snakes and their mimics using a multi-scale framework involving macroevolutionary (Chapter I), geographic/morphological concordance (Chapters II and III), behavioral …

Do Individual Responses To Resistance Exercise Exist To An Extent That Can Be Detected Beyond That Of Measurement Error/Random Biological Variability?, Scott J. Dankel

Electronic Theses and Dissertations

Millions of dollars are spent analyzing inter-individual differences in response to resistance exercise, but the lack of a non-exercise control group means they may simply be examining random error. The purpose of this study was to determine whether there are inter-individual differences in response to two distinct resistance exercise protocols. Participants (n=151) were randomly assigned to one of 3 groups as follows: (1) a traditional exercise group performing 4 sets to failure with a load that could be lifted 8-12 times; (2) a one-repetition maximum (1RM) training group performing a 1RM test each visit; and (3) a non-exercise control group. …

Application And Refinement Of Molecular Ecology Techniques For Amphibian Conservation, Stephanie Marie Burgess

Electronic Theses and Dissertations

Wildlife conservation has become increasingly difficult due to habitat loss habitat fragmentation and land use change. Thus conservationists have embraced advances in molecular ecology such as landscape genetics and microbial bioinformatics that employ genetic techniques to further understand the relationship between individuals and their environment. In landscape genetics model inferences can be used to identify features that facilitate or resist gene flow providing a framework for anticipating the impacts of land use changes on a species’ ability to disperse. However the factors that affect the transferability of landscape genetics inferences are poorly understood and little is known about the effect …

Eco-Evolutionary Implications Of Environmental Change Across Heterogeneous Landscapes, Jared J. Homola

Electronic Theses and Dissertations

Species use a variety of mechanisms to adapt to environmental change. These range from spatially tracking optimal environments, to phenotypically plastic responses and evolutionary adaptation. Due to increases in anthropogenic influence on environments, characteristics of change such as their duration and magnitude are undergoing fundamental shifts away from the natural disturbance regimes that shaped species’ evolution. This dissertation uses empirical data and simulation models to examine the ecological and evolutionary consequences of environmental change across real, heterogeneous landscapes for multiple species, with an emphasis on anthropogenic changes. I used landscape genetics to evaluate the effects of urbanization on two native …

"What Is The M/F Problem?": Critical Discourse Analysis In Anne Fausto-Sterling's Sexing The Body: Gender Politics And The Construction Of Sexuality, Marysarah Grace Reid

Electronic Theses and Dissertations

Current dominant understandings of biological sex and gender that rely upon binary constructions are problematic on cultural, political, and individual levels. Cultural misunderstandings of the complexities of biological sex have harmful consequences, including the unnecessary surgical and medical interventions on intersexed bodies and the negative psychological effects of gender stereotypes. Anne Fausto-Sterling’s book, Sexing the Body: Gender Politics and the Construction of Sexuality (2000), advances necessary progressive feminist perspectives on the subject. I employ critical discourse analysis comparing original scientific and academic discourses with the author’s translations. I argue that she questions binary sex development and assignment in ways that …

Movement In Cats, Valerie N. Plummer

Electronic Theses and Dissertations

Feral cats (Felis catus) are listed as one of the '100 world's worst invasive alien species'. There are as many as 70-100 million feral cats in the United States as well as an estimated 117-157 million domestic indoor and outdoor cats. Management efforts include a nonlethal feeding and sterilization program known as "trap-neuter-release" (TNR) where cats are surgically sterilized and returned to the environment. Population size and structure, immigration rates, spay/neuter rates, and data on spatial use all play a role in whether TNR is a viable management option. This study focuses on population structure and spatial use. …

An Organizational Ethics Framework To Balance Individual Privacy And Population Interests Regarding Genetic Technologies, Christine Trani

Electronic Theses and Dissertations

The American culture holds the right to privacy as one of the most esteemed rights for individuals. As such, the culture adamantly defends the right to privacy to ensure individuals have the opportunity to live freely. In the American healthcare system, the right to privacy is critical for individual autonomy. However, genetic science has pushed this boundary as it emphasizes the interdependency between individual and population health. Genetic technologies for healthcare have been increasing at an exponential rate since the early 2000s. Their implantation into clinical care has been a slower process due to ethical dilemmas. Specifically, ethical dilemmas revolve …

Congenic And Functional Analysis Of Rat Mammary Cancer Susceptibility., Saasha Le

Electronic Theses and Dissertations

Breast cancer is a complex disease affected by genetic, epigenetic and environmental factors. The genetic architecture of breast cancer comprises of high to low penetrance alleles. Although low penetrance alleles associate with a small change in an individual’s risk to breast cancer, the total number of variants present and the high population frequency attributes to a much greater population based impact compared to rare high penetrance alleles. Animal models have been used to study these low penetrance modifier alleles in breast cancer. Different rat strains vary in their susceptibility to 7,12- dimethybenzanthracene (DMBA) induced mammary carcinogenesis, with the Wistar- Furth …

Loblolly Pine Genetics Structure Its Mycorrhizal Community, Bridget Joan Piculell

Electronic Theses and Dissertations

Plant populations are constantly exposed to a multitude of biotic and abiotic environmental selection pressures. The ability of a population to persist in or adapt to its environment is heavily influenced by the genetic underpinnings of the traits involved. Thus, in order to understand patterns in current plant populations, and to predict future populations dynamics, an understanding of the genetic basis of adaptive traits is necessary. For example, genetic correlations between traits (driven by pleiotropy or linkage disequilibrium) could influence how species evolve under multiple, conflicting selection pressures, potentially either constraining or enhancing the adaptation of species to each other. …

Why Are Salmon Red? Proximate And Ultimate Causes Of Flesh Pigmentation In Chinook Salmon, Sarah Jean Lehnert

Electronic Theses and Dissertations

Carotenoids are responsible for the characteristic red eggs, skin and flesh of salmonids. Although carotenoids are thought to provide salmon with many benefits, carotenoid pigmentation has not evolved in all, or even the majority of fishes, thus highlighting our lack of understanding of the evolutionary costs and benefits associated with the pigment. In nature, Chinook salmon (Oncorhynchus tshawytscha) exhibit extreme variation in carotenoid utilization due to genetic polymorphisms that affect carotenoid deposition into the flesh, skin and eggs, consequently resulting in two colour morphs (red and white). Chinook salmon are thus an ideal model species to study carotenoid pigmentation evolution. …

An Assessment Of Haplotype And Nucleotide Diversity In The Southern Short-Tailed Shrew (Blarina Carolinensis), Anthony Christopher Grow

Electronic Theses and Dissertations

The control region of mitochondrial DNA in the southern short-tailed shrew (Blarina carolinensis) was examined to further understand haplotype and nucleotide diversity of the species within a chromosomal-polymorphic zone in western Tennessee, as well as, in populations west of the Mississippi River. A congruent 214 base-pair region of 78 aligned sequences was analyzed from populations in western Tennessee, eastern Arkansas, eastern Texas, and eastern Oklahoma. Of the 78 sequences, 54 unique haplotypes were found. High haplotype and nucleotide diversity were reported for each locality and for the area sampled as a whole. Fixation indices also further support the degree of …

An Enhanced Model For Parental Decision Making For Pediatric Care, Jillian Walsh

Electronic Theses and Dissertations

Pediatric medicine, the branch of medicine dedicated to taking care of children, is a relatively new medical specialty, developing in the mid-19th century. Pediatrics emerged as society began to believe that children were different from adults and in need of specialized care. Soon after the development of specialty medicine for children it became evident that many challenging ethical issues were present with children that did not exist, or at least not to the same extent with adults. In some cases, issues are similar, however they become much more complex or challenging when applied to children. The field of pediatrics is …

Genetic Structure And Demographic Analysis Of Key Deer (Odocoileus Virginianus Clavium), Vicki Villanova

Electronic Theses and Dissertations

Recent improvements in genetic analyses have paved the way in using molecular data to answer questions regarding evolutionary history, genetic structure, and demography. Key deer are a federally endangered subspecies assumed to be genetically unique (based on one allozyme study), homogeneous, and have a female-biased population of approximately 900 deer. I used 985bp of the mitochondrial cytochrome b gene and 12 microsatellite loci to test two hypotheses: 1) if the Moser Channel is a barrier to gene flow, I should expect that Key deer are differentiated and have reduced diversity compared to mainland deer and (2) if isolation on islands …

Examining The Relationship Among Genes, Attention Bias To Emotion, Depression In Youth, Jessica L. Jenness

Electronic Theses and Dissertations

The investigation of biologically initiated pathways to psychological disorder is critical to advance our understanding of mental illness. Research has suggested that attention bias to emotion may be an intermediate trait for depression associated with biologically plausible candidate genes, such as the serotonin transporter (5-HTTLPR) and catechol-o-methyl-transferase (COMT) genes, yet there have been mixed findings in regards to the precise direction of effects. The experience of recent stressful life events (SLEs) may be an important, yet currently unstudied, moderator of the relationship between genes and attention bias as SLEs have been associated with both gene expression and attention to emotion. …

Predictors Of Breast Cancer Screening And Cancer Genetic Services Use Among Young African American Female Breast Cancer Survivors: A Secondary Data Analysis, Tarsha Jones

Electronic Theses and Dissertations

PURPOSE: The purpose of this study was to describe the breast cancer screening behaviors and cancer genetic services (genetic testing and counseling) use among African American female breast cancer survivors diagnosed between the ages of 20-45 years of age (Young Breast Cancer Survivors -YBCS). Additionally, this study examined factors that predicted these breast cancer screening behaviors.

THEORETICAL FRAMEWORK: An expanded version of the Theory of Planned Behavior (Ajzen, 1991) as modified by (Katapodi et al., 2013) guided this study. According to the original theory, knowledge/attitudes, subjective norms regarding the behavior, and perceived control towards the behavior predicts one's intention to …

The Role Of Artificial Structures In Facilitating Range Expansion Of The Introduced Barnacle Megabalanus Coccopoma In The Southeastern U.S.A., Alicia M. Reigel

Electronic Theses and Dissertations

The barnacle Megabalanus coccopoma is a recent invader of the southeastern U.S.A. from the tropical eastern Pacific. In Georgia, M. coccopoma populations along the immediate coastline often suffer extensive mortality during the winter, but population rebuilding is common after these events suggesting that there may be nearby larval sources. I investigated the hypothesis that artificial structures (i.e., buoys, towers), occurring far enough offshore of Georgia for water temperatures to be moderated by the Gulf Stream, provide refuges for breeding adults of M. coccopoma and can serve as the larval source. I investigated this hypothesis by first developing thirteen microsatellite primer …

From The Mouths Of Mississippian: Determining Biological Affinity Between The Oliver Site (22-Co-503) And The Hollywood Site (22-Tu-500), Hanna Stewart

Electronic Theses and Dissertations

The Mississippian period in the American Southeast was a period of immense interaction between polities as a result of vast trade networks, regional mating networks which included spousal exchange, chiefdom collapse, and endemic warfare. This constant interaction is reflected not only in the cultural materials but also in the genetic composition of the inhabitants of this area. Despite constant interaction, cultural restrictions prevented polities from intermixing and coalescent groups under the same polity formed subgroups grounded in their own identity as a result unique histories (Harle 2010; Milner 2006). As a result, phenetic similarities and differences are not homogenized. In …

A Revised Model For Informed Consent In Predictive Genetic Testing, Jessica L. Minor

Electronic Theses and Dissertations

This dissertation develops a revised model of informed consent for PGT. The need for this model arises from distinguishing characteristics of PGT, which make it distinctive from other forms of health-related testing. These characteristics are: the difficulty in understanding genetic risks and probabilities; the problem of treatment options for diagnosed genetic traits; and the concern with family-related genetic information. The first chapter explains PGT to identify these characteristics that shape the revised model of consent. The second chapter explores the history of consent to identify the widely recognized components of consent (understanding, disclosure, and voluntariness) that represent the current model. …

Vikings, Merchants, And Pirates At The Top Of The World : Y-Chromosomal Signatures Of Recent And Ancient Migrations In The Faroe Islands., Allison Mann

Electronic Theses and Dissertations

The Faroe Islands are a small archipelago in the North Atlantic. With a current population of approximately 49,000 individuals and evidence of high levels of genetic drift, the Faroese are thought to have remained highly homogeneous since their settlement by Vikings around 825 CE. Despite their geographic isolation, however, there is historical evidence that the Faroese experienced sporadic contact with other populations since the time of founding. This study set out to distinguish the signal of the original founders from later migrants. Twelve Y-chromosomal STR markers were scored for 139 Faroese males. Median-joining networks were constructed to determine the phylogenetic …

Reproductive Interactions Between Wild And Farmed Chinook Salmon (Oncorhynchus Tshawytscha): Conservation And Ecological Implications, Sarah Lehnert

Electronic Theses and Dissertations

Wild Chinook salmon (Oncorhynchus tshawytscha ) populations could be adversely affected through reproductive interactions with escaping farmed salmon. To determine the reproductive ability of farmed Chinook salmon relative to wild, I compared sperm traits, as well as fertilization and reproductive success in competitive spawning channels. Farmed Chinook salmon males had greater sperm performance relative to wild males, and they were equally successful at competing for mates and fertilizing eggs. However, farm-sired offspring experienced lower survival to the fry stage, which could mediate any impact on the wild populations. Given that hybridization can lead to negative genetic effects via outbreeding, I …

Cytokine Genetics And Expression : Implications Of An Immunogenetic Pathogenesis In Autism Spectrum Disorders., Meghan Carey Mott

Electronic Theses and Dissertations

Autism Spectrum Disorder (ASD) is an idiopathic pervasive neurodevelopmental disorder associated with various neuropathologies and immunological dysfunctions. Cytokines are regulatory proteins that facilitate communication between the immune and central nervous systems and mediate inflammation, immunity, and hemopoiesis. Previous literature demonstrates that cytokine expression is altered systemically and in the central nervous system of individuals diagnosed with ASD when compared to matched neurotypical controls. Here it is proposed that cytokines are crucial mediators in autism pathogenesis. The central hypothesis of this research posits that an underlying genetic susceptibility in cytokine genes is triggered by environmental exigencies (e.g., stress, infection, ultrasound, hypoxia, …

Light-Related Photosynthetic Gene Expression And Enzyme Activity In The Heterokont Alga Vaucheria Litorea And Its Symbiotic Partner The Sacoglossan Mollusc Elysia Chlorotica, Kara M. Soule

Electronic Theses and Dissertations

Photosynthesis is comprised of tightly coupled reactions and therefore requires strict matrices of regulation, particularly involving alterations in gene expression and enzyme activity within the nucleus and plastid. Extensive research has been carried out on these light-regulated mechanisms in plants and green algae, however, much less is known in the red algal lineage, including heterokonts. The goal of this study was to investigate the influence of light on photosynthetic gene expression and select enzyme activity in the heterokont alga Vaucheria litorea and its symbiotic partner Elysia chlorotica, a photosynthetic sacoglossan mollusc (sea slug). Elysia chlorotica harbors V. litorea plastids …

Anxiety Disorders In Children With Williams Syndrome, Their Mothers, And Their Siblings : Implications For The Etiology Of Anxiety Disorders., Ovsanna Leyfer

Electronic Theses and Dissertations

Genetic factors play an important role in the etiology of anxiety disorders. Williams syndrome (WS), a genetic disorder caused by a deletion on chromosome 7q11.23 and associated with increased prevalence of anxiety disorders relative to the general population and other genetic disorders associated with intellectual disability, can be used in the search for susceptibility genes for anxiety disorders. This study examines the prevalence of anxiety disorders in children with WS, their mothers, and their siblings as well as predictors of anxiety in these groups, in order to facilitate the use of WS in studies of genetics of anxiety disorders. Anxiety …