Genetics and Genomics Commons^™

Computational Analysis Of Antibody Binding Mechanisms To The Omicron Rbd Of Sars-Cov-2 Spike Protein: Identification Of Epitopes And Hotspots For Developing Effective Therapeutic Strategies, Mohammed Alshahrani

Computational and Data Sciences (PhD) Dissertations

The advent of the Omicron strain of SARS-CoV-2 has elicited apprehension regarding its potential influence on the effectiveness of current vaccines and antibody treatments. The present investigation involved the implementation of mutational scanning analyses to examine the impact of Omicron mutations on the binding affinity of four categories of antibodies that target the Omicron receptor binding domain (RBD) of the Spike protein. The study demonstrates that the Omicron variant harbors 23 unique mutations across the RBD regions I, II, III, and IV. Of these mutations, seven are shared between RBD regions I and II, while three are shared among RBD …

Multispecies Genomic Sex Identification Using Ddx3 Gene Polymorphisms, Jessica Felts

All Graduate Theses and Dissertations

PCR sex determination assays must be reliable and cost effective due to the frequent and integral use of these assays in biological research and the animal production industry. Thus, the design of proof of a primer pair with a built-in control is warranted to not only bypass the extra cost of a multiplex reaction, but also to prevent anomalous results that have been documented with other primer pairs.

The objective of this study was to design primer pairs with built in PCR amplification control to identify sex in Equus caballus (domestic horse), Homo sapiens (humans), Macaca mulatta (rhesus macaque), and …

Annotation Of Non-Model Species’ Genomes, Taiya Jarva

Master's Theses

The innovations in high throughput sequencing technologies in recent decades has allowed unprecedented examination and characterization of the genetic make-up of both model and non-model species, which has led to a surge in the use of genomics in fields which were previously considered unfeasible. These advances have greatly expanded the realm of possibilities in the fields of ecology and conservation. It is now possible to the identification of large cohorts of genetic markers, including single nucleotide polymorphisms (SNPs) and larger structural variants, as well as signatures of selection and local adaptation. Markers can be used to identify species, define population …

Differences In Plant Hormone Responses Between Arabidopsis Thaliana And Schrenkiella Parvula Facing Lithium Toxicities, Jifeng Li

LSU Doctoral Dissertations

Investigating stress responses in plants is central to plant development studies and crop research. Identifying mechanisms of plant abiotic stress tolerance and adaptation will be keys to relieve the conflict between an increasing global population and declining agronomic land. Studies on extremophytes and their genetic responses to environmental stress are a way to help understand how and why these extremophile plants can develop well under extreme environments including high salinity and heavy metal toxicity. The studies herein first focus on comparative responses at the genetic level to lithium toxicity between Arabidopsis thaliana and Schrenkiella parvula. Based on elemental quantification …

Diversity And Dispersal Among Eastern Continental Divide Headwater Stream Fishes In Gwinnett County, Georgia., James E. Russell, Molly M. Botting, Ryan M. Davenport, Emilee J. Story, Mark Patterson

Georgia Journal of Science

The eastern continental divide that bisects Georgia runs through Gwinnett County, separating headwater streams of the western Chattahoochee River watershed from headwater streams of the eastern Ocmulgee and Oconee River watersheds. This landscape feature was used to test hypotheses regarding headwater habitat, fish diversity and gene flow. Headwater habitats are dominant components of river network ecosystems delivering vital ecosystem services and biodiversity. Three headwater streams, one in the Chattahoochee watershed and two in the Oconee watershed, on Gwinnett County Park property, were sampled for differences in physical and chemical properties and fish inter- and intraspecific diversity. Our results suggest the …

Tumor Biology And Immune Infiltration Define Primary Liver Cancer Subsets Linked To Overall Survival After Immunotherapy, Anuradha Budhu, Erica C Pehrsson, Aiwu He, Lipika Goyal, Robin Kate Kelley, Hien Dang, Changqing Xie, Cecilia Monge, Mayank Tandon, Lichun Ma, Mahler Revsine, Laura Kuhlman, Karen Zhang, Islam Baiev, Ryan Lamm, Keyur Patel, David E Kleiner, Stephen M Hewitt, Bao Tran, Jyoti Shetty, Xiaolin Wu, Yongmei Zhao, Tsai-Wei Shen, Sulbha Choudhari, Yuliya Kriga, Kris Ylaya, Andrew C Warner, Elijah F Edmondson, Marshonna Forgues, Tim F Greten, Xin Wei Wang

Kimmel Cancer Center Faculty Papers

Primary liver cancer is a rising cause of cancer deaths in the US. Although immunotherapy with immune checkpoint inhibitors induces a potent response in a subset of patients, response rates vary among individuals. Predicting which patients will respond to immune checkpoint inhibitors is of great interest in the field. In a retrospective arm of the National Cancer Institute Cancers of the Liver: Accelerating Research of Immunotherapy by a Transdisciplinary Network (NCI-CLARITY) study, we use archived formalin-fixed, paraffin-embedded samples to profile the transcriptome and genomic alterations among 86 hepatocellular carcinoma and cholangiocarcinoma patients prior to and following immune checkpoint inhibitor treatment. …

A Short History Of The Holmes County, Ohio, Amish Directory And Genetics Research, Harold Cross

Journal of Amish and Plain Anabaptist Studies

In this first-hand account, Harold “Hal” Cross, a researcher instrumental in the dawning of Amish genetic/demographic studies, recounts his memories of early projects and the development of the first Amish directories. Interest in Amish genetics emerged in the 1960s, as Cross, then a graduate student at Johns Hopkins University School of Medicine, informed Victor A McKusick, Professor of Medicine, about the potential for studying genetic disease among the Amish. Cross, working under McKusick’s direction, then collaborated with Amishman Ervin Gingerich of Holmes County, OH, in completing the first full-size household-level Amish directory in 1965. The effort was financed in part …

Aggression And Mao-A Gene, Sacheta Sudhendra Kulkarni, Shilpa Sam S, Kishor Manohar Rao, Abhijith Devaraju

International Journal of Health and Allied Sciences

No abstract provided.

Assessment Of The First Presentations Of Common Variable Immunodeficiency In A Large Cohort Of Patients, Hossein Esmaeilzadeh, Armita Jokar-Derisi, Amir Hossein Hassani, Reza Yazdani, Samaneh Delavari, Hassan Abolhassani, Negar Mortazavi, Aida Askarisarvestani

Department of Neurology Faculty Papers

BACKGROUND: Common Variable Immunodeficiency (CVID) is a primary immunodeficiency syndrome resulting in recurrent infections, autoimmunity, and granulomatous manifestations.

METHODS AND MATERIALS: This retrospective study was conducted on an Iranian national registry of immunodeficient patients from 2010 to 2021. The frequency of first presentations of CVID and its association with sex, age of onset, and family history of CVID was evaluated.

RESULTS: A total of 383 patients entered the study, 164 of whom were female, and the rest were male. The mean age of the patients was 25.3 ± 14.5 years. The most frequent first presentations of CVID were pneumonia (36.8%) …

Mining Sars-Cov-2 Phylogenetic Trees To Estimate Circulating Infections And Patterns Of Migration, Erin V. Brintnell

Electronic Thesis and Dissertation Repository

The SARS-CoV-2 pandemic led to the formation of very large databases of genomic viral data. These databases contain information on transmission dynamics, emergence and evolution of SARS-CoV-2. However, extracting this information from sequences is difficult, as most methods of analyzing viral genomes were developed for smaller data sets. Therefore, my objective was to develop new fast estimators of the number of infections (I) and the rate of migration based on simple features of SARS-CoV-2 phylogenies.

I simulated pathogen evolution using a susceptible-exposed-infectious-recovered (SEIR) model of pathogen spread, reconstructing evolution using CoVizu. For simulations of I, I varied the total number …

Elucidating The Neural Circuitry Underlying Social Spacing In Drosophila Melanogaster Through The Lens Of Neuroligin 3, Abigail T. Bechard

Electronic Thesis and Dissertation Repository

Social interactions among animals can be complex, and abnormal social behaviours may result in negative fitness consequences for both the individual displaying them, and the entire group. To understand the neural basis of complex social behaviour, we can study simpler behaviours that precede and mediate them. Social spacing, the typical distance between individuals in a group, is an easily quantifiable behaviour in Drosophila melanogaster. Here, I investigated the neural circuitry underlying social spacing through the lens of Autism-candidate gene neuroligin 3. Based on the Nlg3 enrichment pattern in adult fly brains, I hypothesized that nlg3-expressing neurons, along …

Illuminating The Drivers Of Genomic Diversification In Lamprologine Cichlids Of The Lower Congo River, Naoko P. Kurata

Dissertations, Theses, and Capstone Projects

Freshwater fishes are extraordinarily diverse, considering their available habitats represent a tiny proportion of the earth’s surface. Rivers connect heterogeneous habitats in a linear form and provide excellent simplified models to understand how aquatic biodiversity evolves. In particular, the lower Congo River (LCR) in west Central Africa consists of a dynamic hydroscape exhibiting extraordinary aquatic biodiversity, endemicity, and morphological and ecological specialization. This system is thus an excellent natural laboratory for understanding complex speciation and population diversification processes. In my research, I explore various drivers of diversification, and adaptive evolution in rheophilic lamprologine cichlids endemic to the LCR, including Lamprologus …

A Foundational Population Genetics Investigation Of The Sexual Systems Of Solanum (Solanaceae) In The Australian Monsoon Tropics Suggests Dioecious Taxa May Benefit From Increased Genetic Admixture Via Obligate Outcrossing, Jason T. Cantley, Ingrid E. Jordon-Thaden, Morgan Roche, Daniel S. Hayes, Stephamie Kate, Christopher T. Martine

Faculty Journal Articles

Solanum section Leptostemonum is an ideal lineage to test the theoretical framework regarding proposed evolutionary benefits of outcrossing sexual systems in comparison to cosexuality. Theoretically, non-cosexual taxa should support more genetic diversity within populations, experience less inbreeding, and have less genetic structure due to a restricted ability to self-fertilize. However, many confounding factors present challenges for a confident inference that inherent differences in sexual systems influence observed genetic patterns among populations. This study provides a foundational baseline of the population genetics of several species of different sexual systems with the aim of generating hypotheses of any factor—including sexual system—that influences …

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 …

Development Of Reverse Genetics Tools In The Two-Spotted Spider Mite Tetranychus Urticae, Nivitha Bhaskar

Electronic Thesis and Dissertation Repository

Tetranychus urticae, commonly known as the two-spotted spider mite, poses a significant threat to agriculture due to its ability to feed on a diverse range of plant hosts and its strong detoxification abilities in overcoming xenobiotic response. With global warming projected to increase spider mite infestations, it is vital to study the detoxification genes that enable the mite to adapt and survive. The spider mite genome sequence reveals a unique set of detoxification genes that can be studied using RNAi as a promising reverse genetic tool. However, the current genetic toolkit requires improvement. This study examined the effectiveness of …

Overexpressing Two Helicobacter Pylori Small Rnas From A Bacterial Pathogenicity-Related Chromosomal Region To Investigate Their Regulation Of Virulence Genes, Roxanne N. Mcpeck, Olivia F. Morgan, Andrea R. Castillo Phd

2023 Symposium

The bacterial pathogen Helicobacter pylori infects the stomachs of approximately 50% of humanity, causing symptomatic disease (e.g., stomach ulcers, gastric cancer, and MALT lymphoma) in 10-15% of the infected. Colonizing the acidic, inhospitable stomach requires H. pylori to tightly regulate gene expression despite lacking many common bacterial genetic regulatory elements. The pathogen may compensate by using abundant non-protein-coding small RNAs (sRNAs) to regulate gene expression, including of infection-intensifying virulence genes. Additionally, severe disease and cancer correlate with infection by H. pylori strains that contain a nonessential chromosomal region, the cytotoxin-associated gene pathogenicity island (cagPAI). This encodes powerful virulence …

Zinc Treatment Reverses And Anti-Zn-Regulated Mirs Suppress Esophageal Carcinomas In Vivo, Louise Fong, Kay Huebner, Ruiyan Jing, Karl Smalley, Christopher R Brydges, Oliver Fiehn, John Farber, Carlo M Croce

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Esophageal squamous cell carcinoma (ESCC) is a deadly disease with few prevention or treatment options. ESCC development in humans and rodents is associated with Zn deficiency (ZD), inflammation, and overexpression of oncogenic microRNAs: miR-31 and miR-21. In a ZD-promoted ESCC rat model with upregulation of these miRs, systemic antimiR-31 suppresses the miR-31-EGLN3/STK40-NF-κB-controlled inflammatory pathway and ESCC. In this model, systemic delivery of Zn-regulated antimiR-31, followed by antimiR-21, restored expression of tumor-suppressor proteins targeted by these specific miRs: STK40/EGLN3 (miR-31), PDCD4 (miR-21), suppressing inflammation, promoting apoptosis, and inhibiting ESCC development. Moreover, ESCC-bearing Zn-deficient (ZD) rats receiving Zn medication showed a 47% …

Quantitative And Qualitative Analysis Of Mutation In Pam-1 Of Model Organism Caenorhabditis Elegans., Jessica Stein, Jessica Stein

Honors College Theses

The pam-1 gene in the model roundworm Caenorhabditis elegans governs meiotic exit and establishment of cellular polarity in the single-celled C. elegans embryo. Mutation of the pam-1 gene results in reduced fertility and fecundity in adult C. elegans and disrupts the anatomy of the germinal gonad. The aim of this study is to qualitatively and quantitatively define the changes in the germline cells associated with mutations to the pam-1 gene. Specifically, we examined the stages of germ cell development within the gonads of adult worms, both wild-type and pam-1 compromised, and identified the changes in the length of the mitotic, …

Embracing Ai/Ml In Genetic Counseling: A Nationwide Survey On Program Leaderships’ Perspectives And Curriculum Integration, Kyla Holmes

KGI Theses and Dissertations

This study aimed to examine the attitudes and preparedness of genetic counseling program directors and faculty leadership in incorporating artificial intelligence and machine learning (AI/ML) into their curricula and its effect on core competency proficiency. AI/ML has been instrumental in creating and maintaining vital analytical tools and models employed by genetic counselors (GCs). However, research on the attitudes of faculty leadership in charge of training future GCs is limited. A nationwide survey conducted between November 2022 and February 2023 gathered 15 respondents holding diverse academic positions in genetic counseling program curriculum development. The majority of respondents had encountered AI/ML in …

Genome-Wide Association Study For Agronomic Traits In Bermudagrass (Cynodon Spp.), Lovepreet Singh

Theses and Dissertations

Bermudagrass (Cynodon spp.) breeding and cultivar development is hampered by limited information regarding its genetic and phenotypic diversity. A germplasm collection of 206 bermudagrass accessions from 29 countries was genotyped with high-throughput genotyping-by-sequencing technique. Genomic diversity in this diverse germplasm panel was assessed with multifaceted approaches including population structure, phylogenetic analysis, principal component analysis, and genetic diversity parameters. This study revealed substantial genetic variation in the Cynodon accessions, demonstrating the potential of this germplasm panel for further genetic studies and cultivar development in breeding programs. Another critical issue in turfgrass breeding is the lack of information regarding the genetic …