Genetics Commons^™

Identification Of Genetic Factors Underlying Megaesophagus And Startle Disease In Dogs, Sarah M. Bell

All Dissertations

Dogs provide an excellent model for human hereditary disease research; thus, the development of canine genomic tools has been prioritized in recent years. Today, SNP arrays, multiple genome assemblies, and multi-breed reference panels containing whole genome resequencing (WGS) data from hundreds of canids are available to facilitate genome-wide genotyping in the dog. Herein, a variety of genome-wide techniques are employed to identify the genetic factors underlying congenital idiopathic megaesophagus (CIM) in two breeds, German shepherd dogs (GSDs) and Great Danes, and startle disease in Spanish greyhounds.

CIM is a complex canine esophageal motility disorder characterized by ineffective peristalsis and esophageal …

Through The Leaves: Understanding Population Genetic Structure Of Clematis Morefieldii, Keith Andrew Greenway

Honors Capstone Projects and Theses

No abstract provided.

Parental Stress In Tuberous Sclerosis Complex, Jenny Do

Dissertations and Theses (Open Access)

Tuberous Sclerosis Complex (TSC) is a multi-systemic genetic disorder with great clinical variability. As the needs of one child with TSC may vastly differ from another, parenting demands may similarly differ. Characterizing parental stress, or emotional maladaptation arising from parenting duties, can enable healthcare providers to assist parents of children most efficiently with TSC-related symptoms and improve both parent and child health outcomes. This study surveyed 269 parents of children (aged 0-12 years) with TSC and received the following information: children’s TSC clinical features, parent demographics, and a Parent Stress Index (PSI) score. Parents reported higher stress levels for children …

Prenatal Testing Decisions And Motivations In Pregnancies Conceived Via In Vitro Fertilization, Michelle Appel

Dissertations and Theses (Open Access)

Currently, there is limited information about how conceiving through in vitro fertilization (IVF) and preimplantation genetic testing for aneuploidy (PGT-A) impact the decisions individuals make about prenatal genetic testing. This quantitative study aimed to examine the prenatal testing decisions made by pregnant individuals who conceived via IVF as well as to compare the prenatal testing decisions and motivations between those who had PGT-A and those who did not. An anonymous survey was distributed through online support forums and in clinical settings to eligible individuals. Overall, 230 complete responses were collected with 203 participants far enough along in pregnancy to make …

Development Of The Ark Assay For Quantitating Dna- Protein Crosslink Accumulation And Fanconi Anemia Pathway Involvement In The Repair Process, Naeh Klages-Mundt

Dissertations and Theses (Open Access)

DNA-protein crosslinks (DPCs) are a common DNA lesion naturally arising in cells, wherein protein becomes covalently and irreversibly bound to the DNA. Given their excessive size, these adducts present a significant challenge to replication and transcription, thus requiring timely and efficient repair. However, the precise mechanisms involved with processing DPC removal remain unclear. Moreover, current methodologies to quantitate DPC accumulation and removal are restrained by a range of limitations. Here, we describe and discuss a new DPC detection assay – the ARK assay – capable of overcoming the limitations incurred by prior assays. The design, which uses dual chaotropic lysis …

When Problems Become Solutions: Harnessing The Osteogenic Capacity Of Disease-Causing Stem Cells To Repair Bone Fractures, Mehreen Pasha

Honors Scholar Theses

While we often perceive disease as negative, there is potential to engineer seemingly negative biological phenomena into therapeutics to treat a variety of human illnesses. Fibrodysplasia ossificans progressiva (FOP) is a genetic disorder involving uncontrolled, widespread, extraskeletal bone growth, or heterotopic ossification (HO). In FOP patients, stem cells called fibro/adipogenic progenitors (FAPs) follow an abnormal, osteogenic pathway. In the present study, we investigate whether we can adapt these Acvr1 mutant FAPs, which are exceptional at producing bone, to repair bone fractures in otherwise normal patients. The primary aims of this study are (1) to devise and optimize a novel method …

Experiences Of Racial And Ethnic Minority Patients With Genetic Counseling, Emile Moura Coelho Da Silva

Dissertations and Theses (Open Access)

Racial and ethnic minority patients in the United States undoubtedly suffer from inequalities in healthcare. While some studies have explored these inequalities in the field of genetic counseling specifically, research relating to genetic counseling outcomes in diverse patient populations is still limited. With the number of non-Hispanic White individuals in the United States projected to decrease by 20 million by 2060, it becomes imperative to better understand the experiences of racial and ethnic minority patients to meet their needs. Therefore, this study aimed to further describe the experiences of racial and ethnic minority patients who received genetic counseling services. In …

Invisible Disabilities, Academic Capital And Competitiveness Of Genetic Counseling Applicants, Natalie E. Stoner, Meagan Choates, Carla Mcgruder, Debra Murray, Theresa Wittman, Sara Wofford, Claire N. Singletary

Dissertations and Theses (Open Access)

The field of genetic counseling has historically lacked diversity. Recent research has begun to explore how visible diversity may present barriers to a genetic counseling applicant becoming competitive, but has not yet characterized potential barriers with invisible diversities, such as being a first-generation college student, or a part of the LBGTQ+ community. Therefore, this study aimed to address this gap among those with invisible diversities, as well as explore their academic capital (AC), a theoretical framework used to identify factors that make students more likely to succeed in post-secondary work including supportive networks, trustworthy information, family uplift, college knowledge, overcoming …

Src Stimulates Abl-Dependent Phosphorylation Of The Guanine Exchange Factor Net1a To Promote Its Cytosolic Localization And Cell Motility, Andrea M Murad, Hannah L Hill, Yu Wang, Michael Ghannam, Min-Lee Yang, Norma L Pugh, Federico M Asch, Whitney Hornsby, Anisa Driscoll, Jennifer Mcnamara, Cristen J Willer, Ellen S Regalado, Dianna M Milewicz, Kim A Eagle, Santhi K Ganesh

Faculty, Staff and Student Publications

Spontaneous coronary artery dissection (SCAD) is a potential precipitant of myocardial infarction and sudden death for which the etiology is poorly understood. Mendelian vascular and connective tissue disorders underlying thoracic aortic disease (TAD), have been reported in ~5% of individuals with SCAD. We therefore hypothesized that patients with TAD are at elevated risk for SCAD. We queried registries enrolling patients with TAD to define the incidence of SCAD. Of 7568 individuals enrolled, 11 (0.15%) were found to have SCAD. Of the sequenced cases (9/11), pathogenic variants were identified (N = 9), including COL3A1 (N = 3), FBN1 (N = 2), …

Increasing Genetic Testing Rates To Improve Early Detection And Prevention Of Breast And Ovarian Cancer In Women, Makensey Beth Durrant

UNLV Theses, Dissertations, Professional Papers, and Capstones

Screening rates for cancer related genetic mutations are low in the primary care setting, despite evidence-based guidelines recommending screening in all patients who meet criteria. Genetic mutations, such as the breast cancer susceptibility 1 and 2 (BRCA1/2) gene mutations, drastically increase breast and ovarian cancer risk in patients. The United States Preventive Services Task Force (USPSTF) and the National Comprehensive Cancer Network (NCCN) provide evidence-based guidelines on criteria for genetic testing in women at risk for breast and ovarian cancer related gene mutations. Primary care providers (PCPs), including advanced practice registered nurses (APRNs), are at the front lines of preventative …

Improving Self-Efficacy And Knowledge While Reducing Anxiety In High-Risk Breast Cancer Patients Through Standardized Education, Shelley Miles

UNLV Theses, Dissertations, Professional Papers, and Capstones

Breast cancer is the leading cause of death of women in the United States. Patients at high risk for developing cancer are more easily identified in today’s world. Early identification might be due to strong family history or genetic mutations, such as BRCA1 or BRCA2. Screening and risk reduction guidelines have been developed over recent years for these patients. Adherence to these guidelines continues to be a problem. The factors stemming from this problem include lack of knowledge about being high-risk, understanding the guidelines, and anxiety and depression about the perceived risk of developing breast cancer. These factors can cause …

Comparative Analysis Of Rna Tran-Scriptomes In Ptsd Patients, Tyler Forrest Chan

Honors Capstone Projects and Theses

No abstract provided.

Genomic Tools And Models For Investigating The Role Of Germline Diversity In Mouse Antibody Repertoire Development., Justin T. Kos

Electronic Theses and Dissertations

Given the diversity and complexity within immunoglobulin (IG) loci, effective mouse models first require characterization of intra-strain differences and construction of high-quality reference assemblies for IG loci in several representative strains. To understand light chain germline diversity across biomedically significant mouse strains, we profiled the expressed IGK and IGL repertoires of 18 commonly used laboratory mouse strains using AIRR-seq. Across strains, we observed germline IGKV sequences shared by three different IGK haplotypes and a more conserved IGLV germline repertoire among common laboratory strains. Pacific Biosciences (PacBio) Single-Molecule Real-Time (SMRT) sequencing was used to sequence and assemble bacterial artificial chromosomes (BAC) …

Development Of Cloning Vehicles For Expression Of Gc-Maf In Yeast, Tammy Tran, Seohyun Lee, Jane Yu, Wilson Wu

Pacific Undergraduate Research and Creativity Conference (PURCC)

No abstract provided.

Proteomic Analysis Of The Expression Of Masp1 Dragline Silk Protein In E. Coli, Sophie Rae Pazzo, Rajan Amit Patel, Kamrin Athwal, Edward Kim

Pacific Undergraduate Research and Creativity Conference (PURCC)

No abstract provided.

Utilizing Pharmacology To Target Transcription Factors Involved With Cancer Onset And Development, Tristan D. Sanders

Mountaineer Undergraduate Research Review

Transcription factors (TFs) are a vital part of every living organism on earth, as they allow for the correct genes to be expressed while much of the genome is never used. They can fall victim to mutations or manipulations that lead to the deregulation of many genes within a cell. If specific genes are over/under-expressed, a cell may become cancerous and begin replicating into a tumor. It has been demonstrated that common TFs associated with cancer can be targeted using small molecule drugs, and a popular target of these drugs is the DNA binding site on the TF along with …

Covid Susceptibility And Severity Correlation With The Ace2 Gene, Natalie Taylor

Thinking Matters Symposium

A wide spectrum of susceptibility and severity of infection has been observed among COVID-19 patients. While some individuals remain unaffected by the Sars-Cov-2 virus, others have contracted the virus multiple times with varying levels of severity. This poster reviews some of the research demonstrating a link between the susceptibility of the Sars-Cov- 2 virus and the severity of infection, and a specific gene called ACE2. The ACE2 gene encodes an angiotensin-converting enzyme that acts as a functional receptor for the spike glycoprotein receptor binding domain of the coronavirus and severe acute respiratory syndrome coronaviruses. ACE2 presents numerous amino acid variants …

Alzheimer's Disease: A Comprehensive Review Including Personal Experience From Retirement Home Patients, Sydney Fox

Honors Theses

Alzheimer’s Disease is a neurodegenerative illness and disease, the most common type of dementia, and the sixth leading cause of death (Sá et al., 2012). The disease was discovered in 1906 and named after Dr. Alois Alzheimer, a psychiatrist and neuropathologist. Over time, a variety of hypotheses have developed regarding the cause behind this multifactorial disease, and these will be disclosed in a later section. Nonetheless, the disease was first observed in changes of the brain tissue of a woman who was said to have die from an unusual mental illness with many abnormal bumps. These bumps are now recognized …

The Synthesis And Purification Methodology Of An Intermolecular Pyrophosphate Sensor: Applications For The Quantitative Polymerase Chain Reaction, Ethan Gevedon

Honors Projects

The optimized synthesis and purification methodology for an intermolecular pyrophosphate sensor scaffold molecule was performed: high performance liquid chromatography afforded the scaffold in excellent purity and yield. The applications of the sensor assembly in the quantitative polymerase chain reaction were discussed, and preliminary results show that

Metabolism, Cognition, And Male Coloration In Eastern Mosquitofish, Katelyn Ashleigh Giltner

Honors Capstone Projects and Theses

No abstract provided.

Polydactyly In Cats, Rosa Benson, Cassie Morris, Leaha Mancuso, Bernardo Mesa

Harrisburg University Research Symposium: Highlighting Research, Innovation, & Creativity

Polydactyly is a genetic condition in which a cat is born with more than the typical number of toes. It is a dominant genetic mutation and is fairly common in cats. (Class Project)

Editorial: Accelerating Genetic Gains In Pulses, Aditya Pratap, Shiv Kumar, Patricia L. Polowick, Matthew W. Blair, Michael Baum

Agricultural and Environmental Sciences Faculty Research

No abstract provided.

Sex And Starvation Influences Latrotoxin Expression In The Brown Widow Spider, Mattie Harris

Honors College Theses

Widow spiders (genus Latrodectus) are well-known for their potent venom. Seven latrotoxin proteins constitute the main components of widow spider venom. The vertebrate specific (α-latrotoxin) and insect specific (α-latroinsectotoxin) latrotoxins have been well-characterized with respect to structure and function. Regulation of latrotoxin gene expression is not well understood but sex and feeding could be factors influencing production. In this study, I used quantitative qPCR to (1) characterize the expression patterns of both the insect and vertebrate specific latrotoxins in male and female brown widow spiders (Latrodectus geometricus) to characterize sex-biased expression and to (2) study expression patterns …

Host-Pathogen Coevolution Between Tasmanian Devils (Sarcophilus Harrisii) And Devil Facial Tumor Disease, Dylan Garret Gallinson

USF Tampa Graduate Theses and Dissertations

Coevolution is a driving force of rapid evolution, yet the complexity of coevolutionary interactions has made it difficult to characterize the genomic basis of traits mediating such relationships. Coevolutionary dynamics are especially important in host-pathogen systems where the host and pathogen must constantly adapt to one another. The Tasmanian devil and its species-specific transmissible cancer, devil facial tumor disease (DFTD), provide the rare opportunity to study host-pathogen coevolution in a complex natural system. Extensive spatiotemporal devil sampling, high linkage disequilibrium in devils, and a large selective pressure imposed by DFTD facilitate a system tractable for study. Here, we characterized devil …

Exploring The Functionality Of Putative Bop3 Post-Translational Modifications, Liliya Tkachuk

Honors Scholars Collaborative Projects

All eukaryotic cells require that transcribed mRNAs undergo export form the nucleus to the cytoplasm where they can be translated into proteins. This process requires a host of proteins which are conserved between the unicellular budding yeast, S. cerevisiae, and humans. During this process, Mex67 and other associated proteins facilitate the mRNA to travel across the nuclear pore complex (NPC), doorways embedded in the nuclear envelope. Upon the exit of mRNA, Mex67 is released and recycled back into the nucleus to facilitate the export of more mRNA. This occurs through the action of Dbp5, whose activity is regulated through …

Comparative Modeling And Evolutionary Comparison Of Serine Protease, A Timber Rattlesnake Venom Protein, Qawer Ayaz

Theses

The aim of this study is to create a homology model of VG35 serine protease and evaluate the evolutionary comparison of secondary structure on basis of protein model using YASARA. This method was furthermore used to predict the potential epitopes which can help in the investigation of future studies.

The VG35 was used to run a BLAST search which gave most resembled serine protease of different species which was then translated and modeled in YASARA. The modeled protein data was then used to determine the secondary structure. This was then used for evolutionary comparison of all proteins to VG35. Then …

Molecular Evidence Of Cryptic Hybridization In The Japanese Nezasa Bamboos (Pleioblastus Section Nezasa), Ryan Long

Theses

The genus Pleioblastus is a complex group of Southeast Asian temperate bamboos with 7-21 species, depending on taxonomic authority. This study tests the hypothesis that taxonomic complexity in this group is due in part to hybridization and subsequent backcrossing in natural populations, resulting in a reticulate evolutionary history and a contemporary species assemblage that includes cryptic hybrids. This hypothesis is supported by recent research on the temperate bamboos that revealed intergeneric hybrids involving Pleioblastus and other genera of temperate bamboos (Triplett and Clark, 2021). The objective of the current study was to use data from Amplified Fragment Length Polymorphism (AFLP) …

The Roles Of Individual Proteins In De Novo Recruitment Of Pcg Repressive Complexes To Giant, Anni Kum

Biological Sciences Theses and Dissertations

Epigenetic gene regulation is the process by which external factors regulate the genome. This research studies Polycomb Group (PcG) proteins which function as epigenetic agents that work together in complexes to maintain gene silencing for multiple cellular generations. Drosophila melanogaster PcG proteins can be organized into three canonical complexes: Pho-RC, PRC1, and PRC2. Though there are multiple proposed models for the order of recruitment, it is generally accepted that PhoRC, PRC1, and PRC2 interact with each other to stably recruit to a target gene. Since these proteins are highly conserved, this project studies PcG proteins in the model organism, Drosophila …

Sars-Cov-2 Reveals That Chimeric Agents Are The Bioweapons Of The Future, Rachel Craig

Senior Honors Theses

Bioweapons programs have existed since their development during the Cold War. These biowarfare programs initially utilized naturally occurring pathogens capable of infecting crops, livestock populations, and human populations. Anthrax is a widely exploited bioagent responsible for attacks ranging from the Germans’ deployment in World War I to the mailing of anthrax through the postal service in attempts on U.S. senators’ lives. With the development of genetic manipulations, the Soviet Union began modifying anthrax to resist detection and treatment. With the continued advancement of science and technology, a new bioagent has entered the scene – the man-made chimeric virus. Chimeric viruses …

Cryptic Hybridization In The Temperate Bamboos: Is Pleioblastus Simonii A Species Of Hybrid Origin?, Morgan Brown

Theses

Japanese river bamboo (Pleioblastus simonii, ‘medake,’‘kawadake’) is an ecologically important species of temperate bamboo native to Japan. This species is widely known and historically important in Japanese rural farm life. Based on morphological data, Japanese river bamboo is classified in Pleioblastus section Medakea (Poaceae: Bambusoideae) along with five other Japanese species, which are collectively considered to represent a phylogenetically distinct lineage. However, recent studies suggest that Japanese river bamboo may have arisen as a result of previously undetected hybridization (i.e., cryptic hybridization), while also calling into question the diversity of section Medakea. The role of hybridization in natural plant populations …