Genetics and Genomics Commons^™

‘Who’S Your Daddy?’: Ddradseq Parentage In Broodstock-Offspring Pairs Of Diadema Antillarum In A Population Restoration Initiative, Bianca R. Rosendahl

Undergraduate Scholarship and Creative Works

In the early 1980s Diadema antillarum, or the long-spined urchin, was hit by a catastrophic mass mortality event across the western Atlantic and Gulf of Mexico, inclusive of the Florida Keys. The cause of this die-off event was likely triggered by a pathogen or environmental stressor that decimated native populations by up to 98%. The species has not yet fully recovered and is struggling with recruitment success which is why it may benefit from an ex-situ recovery program. In this study, I used single nucleotide polymorphisms (SNPs) to identify genetic variation and analyze parentage in a captive population of …

Tricolored Bat (Perimyotis Subflavus) Population Genetic Structure In The Southeastern United States, Laura Henderson

Master's Theses

Tricolored bats (Perimyotis subflavus) have experienced substantial population losses from white-nose syndrome (WNS), a disease caused by the pathogenic fungus Pseudogymnoascus destructans (Pd) which infects hibernating bats. Determining population genetic structure helps assess genetic diversity and the impacts of wildlife threats to populations. Pre-WNS data shows weak-to-negligible structure and panmictic P. subflavus populations at core portions of their range. However, current genetic data from their southeastern U.S. range is lacking. I sought to determine whether recent genetic data help resolve genetic structure among southeastern populations and assess genetic differences at two stages of impact: post-WNS and …

Assessing Genetic Diversity And Population Structure In The Imperiled Aconitum Reclinatum (White Monkshood), An Endemic Wildflower Of Central Appalachia, Diamanda A. Zizis

Master’s Theses

Aconitum reclinatum, white monkshood (Ranunculaceae), is a Pennsylvania critically imperiled plant species found in five states of the Appalachian region of the United States: Pennsylvania, West Virginia, Virginia, North Carolina, and Tennessee. This plant is adapted to cool, moist environments but faces threats from increasing habitat loss, deer browse, logging, and changes in rainfall and temperature associated with climate change. Comprehensive knowledge of A. reclinatum genetic population structure remains limited. To address this, we collaborated with Natural Heritage programs within the range of A. reclinatum to sample populations across the species distribution and generate a genotyping-by-sequencing data set of …

Dna Methylation Variation In Eastern Diamondback Rattlesnakes (Crotalus Adamanteus) On A Georgia Barrier Island, Megan Hoog

College of Graduate Studies: Theses & Dissertations

The Eastern Diamondback Rattlesnake (Crotalus adamanteus, EDB) is the largest rattlesnake in the world and is thought to be declining in many portions of its range. Genetic venom studies in the Southeast United States have shown evidence of fine-scale differences within two main geographic groups on Jekyll Island. My objective is to expand on this finding to determine if epigenetic mechanisms, specifically DNA methylation, varies among different populations of EDB in similar environments, age classes, and sexes. I collected EDB blood samples through a partnership with the Jekyll Island Authority and screened 44 individuals for epigenetic variation from …

Accurate Body Weight Class Prediction From Mirna And Gene Expression In Blood And Saliva Samples, Kimberly Lettner

Master of Science in Forensic Science Directed Research Projects

miRNA interference on protein abundance related to glucose uptake and lipid production has been evaluated in biomedical research and linked to metabolic disorders like severe obesity. The direct regulation of protein abundance caused by miRNAs on a person’s metabolism can lead to an increased weight and overall size. Body size, measured by BMI, provides additional physical descriptions that can be combined with hair color, eye color, age, and skin pigment to aid investigations of unidentified remains or unknown suspects not found in a database. The purpose of this project was to evaluate the miRNA expression of target biomarkers in dried …

Functional Characterization Of The Hdt5 Gene In Aspergillus Flavus Morphogenesis, Mycotoxin Production, And Fungal Phytopathogenicity, Brenda Omburo

Graduate Research Theses & Dissertations

The present study aimed at elucidating the role of hdt5 in fungal morphology, mycotoxin production and in plant virulence in Aspergillus flavus. Currently, methodologies to prevent the negative impact of A. flavus are insufficient. It is known that expression of the hdt5 gene is dependent on hbx1, a master regulatory gene that affects expression of hundreds of genes in the A. flavus genome, controlling both development and secondary metabolism. However, while the aflatoxin gene cluster has been elucidated, the genetic regulatory mechanisms controlled by hdt5 are not fully understood. For this study, therefore, a complete strain set composed of a …

Gadd34 And Crep Regulation In The Unfolded Protein Response, Comparing Molecular Mechanisms In Humans And Zebrafish, Angela Adams

University of the Pacific Theses and Dissertations

In eukaryotic cells, many newly synthesized proteins are sent to the endoplasmic reticulum (ER) of a cell to be folded into the proper conformation for functionality. When proteins get misfolded, or cannot be folded fast enough, these proteins accumulate in the ER which causes the cell to become stressed. This leads to a process known as the Unfolded Protein Response (UPR). Once UPR has been initiated, the α subunit of eukaryotic initiation factor 2 (eIF2α) becomes phosphorylated to inhibit global protein synthesis within the cell, while simultaneously activating the expression of several genes to either aid in cell recovery or …

Investigating Mitochondrial Stress Response Mechanisms In Aging, Aileigh E. Daniel

Theses and Dissertations

Mitochondrial dysfunction is widely recognized as a key contributor to aging and age-related diseases. The concept of mitohormesis suggests that low levels of ROS can activate stress-responsive transcription factors, promoting adaptive mechanisms that enhance longevity. We hypothesized that changes in protein abundance under conditions of mild mitochondrial stress reflect an adaptive response, and that commonly altered proteins across diverse genetic backgrounds of mitochondrial stress can help identify key regulators of stress resilience and aging. Our study identified conserved mitochondrial stress response pathways and highlighted candidate regulators for further investigation. These regulators appear to impair mitochondrial energy production by downregulating ATP …

Identification Of Benzothiophene-Derived Inhibitors Of Flaviviruses By Targeting Rna-Dependent Rna Polymerase, Leah Liu Wang, Shazeed-Ul Karim, Aidan Hand, Ryan Brunkhorst, Mackenna Petersen, Sarah Altam, Yi Liu, Luwen Zhang, Fengwei Bai, Shi-Hua Xiang

School of Biological Sciences: Faculty Publications

Flaviviruses such as Dengue, West Nile, and Zika viruses are mosquito-borne RNA viruses that can cause serious diseases in humans. To develop effective drugs for treating these viruses’ infections, we create a new approach for developing common or shared drugs that may work for several different viral species of flaviviruses. It is based on the conserved RNA-dependent RNA polymerase (RdRp), which is the key enzyme for viral replication. We built up a common structure of RdRps (POLcon) from their consensus sequence. A conserved Triple-D structural motif was identified at the active site of POLcon that has been used for virtual …

Transcriptome-Wide Gene Expression Analysis Of Skeletal Muscles Of Duchenne Muscular Dystrophy Mouse Models And Patients, Olivia N. Ransiear

Electronic Theses & Dissertations (2024 - present)

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive muscle degenerative disease that frequently proves fatal by age 30. It primarily affects adolescent males with symptoms appearing as early as age 6. Patients quickly lose their ability to walk due to muscle weakness and are confined to wheelchairs for the remainder of their lives. DMD is caused by a mutation in the dystrophin gene. Without dystrophin, mechanical stress, injury, or shock takes a drastic toll on muscle tissue and muscle stem cells, rendering them unable to regenerate or be repaired. This results in a rapid loss of muscular strength and muscle …

Anthropocene Genetic Diversity Loss In The Marine Tropics, René D. Clark, Brendan N. Reid, Eric Garcia, Marial Malabag, Robin S. Waples, Rene A. Abesamis, Jemelyn Grace P. Baldisimo, Abner A. Bucol, Kyra S. Fitz, Sharon F. Magnuson, Richard N. Muallil, Cleto L. Nanola Jr., Roy Roberts, John C. Whalen, Christopher E. Bird, Kent E. Carpenter, Malin L. Pinsky

Biological Sciences Faculty Publications

Genetic diversity is a crucial component of biodiversity, and as such, its maintenance and preservation is of high conservation concern. Tropical environments are undergoing intense rates of environmental change, and these changes may be driving large declines in genetic diversity. However, data on genetic diversity are highly skewed towards temperate regions. The degree to which diversity loss has occurred in tropical species, particularly marine species, remains an open and important question. Here, we directly compare genomic data from modern and museum collections of two commercially-harvested nearshore marine fishes (Equulites laterofenestra and Gazza minuta) gathered from a single location …

Preservation Of Genetic Diversity And Selection Over A Century In A Coral Reef Fish (Taeniamia Zosterophora) In The Philippines, Kyra S. Fitz, Rene A. Abesamis, Jemelyn Grace P. Baldisimo, Abner A. Bucol, René D. Clark, Eric Garcia, Ivan R. Lopez, Sharon F. Magnuson, Marial J. Malabag, Richard N. Muallil, Lynne R. Parenti, Brendan R. Reid, Mudjekeewis D. Santos, Christopher E. Bird, Kent E. Carpenter, Malin L. Pinsky

Biological Sciences Faculty Publications

Evaluating the evolutionary impacts of anthropogenic activity on populations is key to understanding species resiliency and to designing effective conservation strategies. Sequencing DNA from historical specimens provides the opportunity to establish a historical baseline and empirically assess changes in genetic diversity, changes in effective population size, and selection over time. Here, we sequenced historical and contemporary samples of the cardinalfish Taeniamia zosterophora collected in 1908 and in 2021-2022 across two sites with differing human impact in the Philippines. At both sites, genetic diversity increased over time, with contemporary samples having significantly higher Watterson's Θ than historical samples. This diversity increase …

Symbiodiniaceae Shifts Over The Last Decade On The Hottest Coral Reefs On Earth, Anna Fiesinger, Rachel Alderdice, Luigi Colin, Hannah Manns, Gabriela Perna, Kathryn H. Stankiewicz, Jacob J. Valenzuela, Line K. Bay, Daniel J. Barshis, Nitin S. Baliga, Iliana B. Baums, John A. Burt, Christian R. Voolstra

Biological Sciences Faculty Publications

Corals in the Persian/Arabian Gulf (PAG) are resilient to various stressors, whose levels exceed those of coral reefs globally. These corals thereby offer insight into mechanisms underlying thermal resilience, e.g., regarding the role of endosymbiotic microalgae in the family Symbiodiniaceae. Previous studies have identified the thermotolerant species Cladocopium thermophilum as broadly associated with corals in the southern PAG. However, algal-host specificity at the within-species level and the temporal stability of these associations are not well understood. Here we sampled two dominant stony corals (Porites harrisoni, n = 119 and Platygyra daedalea, n = 79) at three sites …

Patterns Of Kinship And Sociality In North American River Otters, Whitney E. Vickers

Cal Poly Humboldt theses and projects

Previous studies of river otters (Lontra canadensis) in coastal Humboldt County, California have documented varying social group compositions over the last four decades. It has been assumed that otters travel between coastal wetland sites, but the extent of movement has been unknown. Socially, river otters have been observed alone, in small family groups that consisted of an otter mom and pup(s), in larger helper groups that consisted of an otter mom, pup(s), and at least one additional adult or juvenile (helpers), and in all-adult social groups. Until now it was unknown whether the composition of social groups was …

What Are The Genetic Influences Of Alcohol Sensitivity And Alcohol Metabolism? A Narrative Review Of Human Studies, Erwin Murray, Karen G. Chartier Phd, Msw

UROP Posters

Background: Alcohol sensitivity and alcohol metabolism are two phenotypes associated with alcohol use disorder (AUD) influenced by genetics. This narrative review aims to answer “What are the genetic influences of alcohol sensitivity and alcohol metabolism?” to gain a better understanding of the genetic aspects of AUD.

Methods: A database search was performed in PubMed. Empirical human genetic studies published between 2009 and 2025 that focused on alcohol sensitivity (measured by the Self-Rating of the Effects of Alcohol scale) or alcohol-metabolizing genes were eligible for review. Studies were screened to determine inclusion for the current review.

Findings: Fifteen …

Impacts Of Multiple Coastal Stressors Across Life-History Stages In The Eastern Oyster, Amaelia Zyck

Open Access Dissertations

Urbanized estuaries are characterized as a complex of biotic and abiotic stressors, which currently challenge marine life and are expected to intensify and become increasingly unpredictable under the ongoing impacts of climate change. The persistence of coastal species that inhabit these stressful environments will ultimately depend on their ability to adapt. Many of these species have complex life cycles, featuring distinct morphological and physiological developmental stages that can exhibit unique responses to environmental pressures. However, since all stages share the same genome, selective pressures acting on one stage can have cascading effects throughout the life cycle. The larval stage, being …

Phylogenetic Analysis Of Metabolic Enzymes In Hypoxic/Anoxic Conditions In Cetaceans And Cancer, Samerna A. Masih

Electronic Theses & Dissertations (2024 - present)

Cancer cells often exhibit a Warburg-like metabolism, which includes increased fatty acid synthesis and storage that help them survive in hypoxic conditions. This shift is marked by the heightened synthesis and accumulation of fatty acids, acting as a survival mechanism in low-oxygen environments (Baumann et al., 2016). Interestingly, deep-diving whales may utilize a similar metabolic pathway to produce wax esters during their prolonged dives.

Our study focused on exploring the genetic and metabolic similarities between breast cancer cells and deep-diving whales, using computational analyses to investigate lipid metabolism genes. We looked for evolutionarily conserved variations that might reveal adaptive mechanisms …

Comparing Multivalent Cross-Linked Sodium Alginate/ Montmorillonite Beads Containing Curcumin Or Cayenne Pepper As Drug Carriers And Their Antimicrobial Resistance, Shionainn Traynor, Shubham Sharma

SURE Journal: Science Undergraduate Research Experience Journal

The aim of the following work was to investigate and compare curcumin and cayenne pepper in microbeads composed of sodium alginate (SA) crosslinked with montmorillonite (MMT) to act as drug carriers and their antimicrobial resistance. The microbeads were prepared through ion-exchange in multivalent solutions of CaCl₂, MgCl₂ and AlCl₃. The microbeads were characterized by Scanning Electron Microscopy (SEM), Energy Dispersive X-ray analysis (EDX) and the time required for intercalation of curcumin and cayenne pepper with MMT. Simulated intestinal fluid (pH 7.3) and gastric fluid (pH 1.2) at 37°C were used for comparison in swelling studies. …

Investigation Into The Effect Of Aspartame On The Expression Of P53 And Bax In Mouse Stomach Tissue, Angelique Cheryl, Aoife Mac Cooey

SURE Journal: Science Undergraduate Research Experience Journal

Introduction: The recent reclassification of aspartame as a Group 2B hazard by the International Agency for Research on Cancer, along with studies suggesting links to cancer, has raised concerns and prompted further investigation. Evidence suggests that aspartame exposure may alter p53 and BAX gene expression, affecting apoptosis in cancer cells. This study aims to examine how aspartame exposure affects p53 and BAX gene expression in normal mouse stomach tissue, shedding light on cellular stress and apoptosis mechanisms.

Methods: Mice were sacrificed, and stomach tissue was excised and divided into control and treatment groups. RNA extraction was carried out in the …

Editorial - Sure Journal Vol 6, Anne M. Friel, Eva Campion, Sinead Loughran

SURE Journal: Science Undergraduate Research Experience Journal

.

The Effect Of Knockdown Of Gene Kit On Sox18 Gene Expression Through The Jak2/Stat3 Signaling Pathway Within An Ewing Sarcoma Cell, Samantha Aragon, Cristina Herrera, Felicity Rodriguez, Riley Smith, Terry Jo Shackleford

Cell and Molecular Methods

Ewing sarcoma is an aggressive cancer that affects children & adolescents. Common treatments include surgery, radiation, and chemotherapy, yet individuals have a poor survival rate and often develop side effects from treatment, including fertility issues, secondary cancer, heart problems, and growth abnormalities.1SOX18 is a gene identified to aid in cell proliferation and cell differentiation, leading to the development of several cancers, such as gastric, bladder, and lung cancer.2,3 SOX18 resides in the JAK2/STAT3 pathway as a regulator, along with another gene named KIT that instigates the formation of the cell signaling pathway.4KIT is a transmembrane tyrosine kinase, which instigates cell …

The Effects Of Ewing Sarcoma Through The Overexpression And Knockdown Of Transcription Factors Sox18 And Stat1, Victoria Castillo, Melany Cervantes, Nicole Robles, Terry Jo Shackleford

Cell and Molecular Methods

SOX18, a transcription factor with a DNA-binding HMG domain, plays a critical role in regulatory processes linked to cancer progression. Exhibiting oncogenic properties, SOX18 has been linked to various cancers, where it promotes tumor growth by enhancing cell invasion, uncontrolled proliferation, and resistance to apoptosis through dysregulated signaling pathways. STAT1, a protein crucial for immune system regulation, is prominently expressed in immune-associated tissues like the lymph nodes, and bone marrow, suggesting it could play a role in tumor growth. Ewing Sarcoma (EWS), an aggressive cancer that targets bone and soft tissue, carries a high mortality rate of 90% without treatment …

Transcription And 3d Chromatin Organization Interplay At Sub-Kilobase Scale, Hannah Harris

Theses & Dissertations

Nuclear compartments are prominent features of 3D chromatin organization, but sequencing depth limitations have impeded investigation at ultra fine-scale. CTCF loops are generally studied at a finer scale, but the impact of looping on proximal interactions remains enigmatic. Here, we critically examine nuclear compartments and CTCF loop-proximal interactions using a combination of in situ Hi-C at unparalleled depth, algorithm development, and biophysical modeling. Producing a large Hi-C map with 33 billion contacts in conjunction with an algorithm for performing principal component analysis on sparse, super massive matrices (POSSUMM), we resolve compartments to 500 bp. Our results demonstrate that essentially all …

An Extensive Exploration Of Generalist Microbotryum Species Through Host Interactions., Emilee Walters

College of Arts & Sciences Senior Theses

The Microbotryum species complex is a group of fungi, commonly known as anther smuts. Anther smuts are plant parasites that must invade a host plant in order to fulfill their life cycle. As the Microbotryum fungus grows, it sterilizes the host plant, such that infected plants produce fungal teliospores instead of pollen on the male reproductive organs and female reproductive structures do not mature. Microbotryum usually exists as a specialist species, however, there is evidence that several species of anther smuts can exist as generalist species. Comparisons of the infection process and the resulting response of both parasite and host …

Size Matters: The Characterization Of Telomere Function In Germ Cell Development In Danio Rerio, Jessica Macneil

Graduate Doctoral Dissertations

Infertility is a growing problem worldwide. According to the WHO, 48 million couples across the globe suffer from infertility and many couples turn to Assisted Reproductive Technology (ART) to become pregnant. One readout of gamete quality and successful ART is telomere integrity because telomeres are necessary for chromosome movements during meiosis so that the segregation of chromosomes happens correctly. Telomeres are well known for their role in aging; however, they play an important and understudied role during meiosis. In meiosis, telomeres attach to the nuclear envelope (NE) via a protein chain spanning the NE that interacts with cytoplasmic motor proteins, …

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 …

The Short Allele Of The Serotonin Transporter Gene (Slc6a4) Increases Predisposition To Anxiety And Negative Emotional States, Gabriella Hitti

PANDION: The Osprey Journal of Research and Ideas

Mental disorders, such as anxiety and mood disorders, have long been a focus of psychological research, and increasing evidence points to a genetic basis for their occurrence. Polymorphisms of the serotonin transporter (5-HTT) gene (SLC6A4) may predispose an individual to anxiety-related symptoms. SLC6A4 has two common alleles: the short (s) allele, which results in less 5-HTT protein production, and the long (l) allele, which results in more 5-HTT. Integrated findings from psychometric evaluations, behavioral animal models, and biological assessments establish a link between the s allele of SLC6A4 and heightened anxiety phenotypes. The allele’s influence on serotonin levels and brain …

Characterization Of Developmentally Downregulated Nfe2l3 In Retinal Ganglion Cell Survival And Axon Regeneration, Lucy Homer

Holster Scholar Projects

Retinal ganglion cells (RGCs) are central nervous system projection neurons essential for transmitting visual information from the eye to the brain. Damage to RGCs, caused by conditions such as glaucoma and traumatic optic neuropathy (TON), may lead to vision loss or blindness, as adult RGCs lack regenerative capacity. This study focuses on Nfe2l3 (Nrf3), a developmentally downregulated transcription factor known to mediate cellular responses to oxidative stress, a key pathological event following optic nerve injury. We hypothesized that overexpressing Nfe2l3 in RGCs would enhance their survival and promote axon regeneration after optic nerve crush (ONC) injury. To test this, we …

Monitoring The Seasonal Presence Of The Blue Shiner, Cyprinella Caerulea, In Little River Canyon National Preserve Using Environmental Dna, Deanna Meadows

Theses

The study of environmental DNA (eDNA) has provided researchers with a more accessible and sensitive way to identify the presence of specific species compared to traditional monitoring methods. eDNA enables species detection by analyzing environmental samples such as water or soil, which contain genetic material shed by organisms in a given area. Research indicates that eDNA techniques have become a valuable method for monitoring threatened and invasive species, proving particularly reliable for detecting aquatic species compared to traditional techniques. Quantitative PCR (qPCR) has been used in numerous eDNA studies, as it provides for greater accuracy than conventional PCR. Cyprinella …

Exploring Genetic Elements Related To The Co-Occurrence Of Crohn’S Disease And Rheumatoid Arthritis, Vamsi Korisapati, Karam Asad, Andrew T. Ozga

Mako: NSU Undergraduate Student Journal

Crohn’s disease (CD) is a rare inflammatory bowel disease that negatively impacts the lining of the digestive tract, while Rheumatoid Arthritis (RA) is an autoimmune disorder wherein the body attacks healthy cells, also causing inflammation. The primary cause of inflammation in both diseases is an overactive immune response, but patients who are diagnosed with RA are typically prescribed nonsteroidal anti-inflammatory drugs, which is not a suggested method for treating CD. Here we do a literature survey through PubMed to uncover genetic variants common to both diseases and highlighted four shared genes: HLA-DRB1, NOD2, CARD9, and CXCL10. We then examined these …