Genetics Commons^™

Electrochemical Strategies For Microrna Quantification Leveraging Amplification And Nanomaterials: A Review, Alexander Hunt, Gymama Slaughter

Center for Bioelectronics Publications

MicroRNAs (miRNAs) are small, non-coding RNAs that regulate gene expression and have emerged as critical biomarkers in various diseases, including cancer. Their stability in bodily fluids and role as oncogenes or tumor suppressors make them attractive targets for non-invasive diagnostics. However, conventional detection methods, such as Northern blotting, RT-PCR, and microarrays, are limited by low sensitivity, lengthy protocols, and limited specificity. Electrochemical biosensors offer a promising alternative, providing high sensitivity, rapid response times, portability, and cost-effectiveness. These biosensors translate miRNA hybridization events into quantifiable electrochemical signals, often leveraging redox-active labels, mediators, or intercalators. Recent advancements in nanomaterials and signal amplification …

Weighted Family History Density Of Substance Use: Influence On Participant Substance Use Onset, Escalation, And Duration, Carleigh A. Litteral

Theses and Dissertations--Psychology

Substance use disorders impose a staggering toll on the United States (U.S.), straining healthcare systems, destabilizing communities, and profoundly impacting both individuals and families. Approximately one in six Americans aged 12 and older had a past-year substance use disorder in 2022 (Key Substance Use, 2022), and nearly one-third of adults experience a substance use disorder in their lifetime (Wu, 2010), contributing to an economic burden exceeding $400 billion annually (National Drug Threat Assessment, 2011). Family history of substance use disorders is a key predictor of vulnerability, with individuals who have affected relatives being 2–8 times more …

The Effects Of Plx 3397 On Fentanyl Escalation In Male And Female Sprague-Dawley Rats, Jakob Shaykin

Theses and Dissertations--Psychology

Purpose: A hallmark characteristic of opioid use disorder (OUD) is a persons’ ‘loss of control’, which leads to the compulsion to seek and obtain opioids, resulting in increased consumption. This phenomenon is known as ‘escalation of drug intake’. Chronic opioid use causes microglial reactivity and subsequent release of proinflammatory cytokines leading to neuroinflammation, weakening one’s executive control over drug taking and ultimately leading to greater use. Previous research in our laboratory has explored heterogeneity of fentanyl intake in extended access (6-hr) sessions and identified distinct endophenotypes of fentanyl intake. Moreover, we have observed a positive correlation between Treml1 expression …

Utilizing Evisits To Increase Access To Genetic Services For The Hearing Loss Population: A Tailored Service Delivery Model, Ansley Roberts

Theses and Dissertations

Purpose: Patients referred for genetics services have specific barriers decreasing accessibility, such as communication difficulties, long wait times, and misconceptions about the utility of genetic testing. We assessed a new tailored service delivery model used by the Greenwood Genetic Center to evaluate patients referred for hearing loss to determine if this model increases access to genetics services for individuals with hearing loss. Methods: Data points such as wait times, testing plan, and diagnostic yield were compiled from patient medical records. Comparison and analysis of data was completed by visit type, in-person, virtual, and electronic visits (eVisits), between October 2023 – …

The Relationship Between Cardiac Patient Beliefs And Experiences With Insurability And Their Decisions On Whether Or Not To Pursue Genetic Testing, Julia Schoeni

Theses and Dissertations

Since the enactment of the Genetic Information Non-Discrimination Act (GINA) in 2008, genetics providers have been incorporating conversations about GINA in pre-test counseling. There is currently limited evidence of the effects of personal or family histories of cardiomyopathy or aortopathy and associated genetic testing on patients seeking insurance policies not protected by GINA, including life, long term care, and disability insurance. This study aimed to determine whether individuals with a personal or family history of cardiomyopathy or aortopathy are having conversations about future insurability with their healthcare providers and how they perceive their ability to get these insurances when deciding …

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 …

Hidden Markov Model For Identifying Local Variants In Human Genomes Using Simulated Data, Scott Mccallum

Electronic Theses and Dissertations

Identifying adaptive mutations in genetic data is challenging due to the low frequency of occurrence of such events, and because signatures of selection are intertwined with the footprints of various other evolutionary forces that shape our genomes. Even when a larger region appears to be under selection, genomic sites that are linked to adaptive mutations have similar statistical signals, and thus can obfuscate the identification of the actual adaptive mutation. The new method described here uses a Hidden Markov Model that allows for classification of neutral, linked, and sweep (adaptive mutation) genomic sites. This model is general and can be …

Morphological And Molecular Identification Of Saurida Spp. (Teleostei: Synodontidae) From Saudi Arabia And Indonesia, Muhammad Browijoyo Santanumurti, Suciyono Suciyono, Mohamed Ahmed Abu El-Regal

Makara Journal of Science

Saurida is a unique fishery commodity because it is difficult to differentiate visually. They can be only effectively con-served once accurately identified. This study aimed to determine the morphology and molecular characteristics of Sau-rida spp. from Banyuwangi (Indonesia) and Jizan (Saudi Arabia). Meristic and morphometric analysis was performed for morphological identification, whereas COI gene analysis was performed for molecular identification. Morphological analysis was performed to identify Saurida in this study, such as S. tumbil (Jizan, Saudi Arabia) and S. micropectoralis (Banyuwangi, Indonesia). S. tumbil did not have dark brown spots on the lateral line and upper caudal fin, whereas S. …

Gonadal Absence Of Pig-1: Exploration Of Pig-1 In The Gonad Of Caenorhabditis Elegans, Winston S. Bennah

Undergraduate Theses

Caenorhabditis elegans are model organisms frequently studied to better understand biological processes. They have short life spans and produce a large number of progeny. Additionally, many of their molecular development processes can be found in human, providing insight into cell death and cell fate. In this project, our research aims to create a triple mutant strain to test the importance of the pig-1 gene in the gonad of C. elegans. This strain carries the following alleles: ckb-3::degron; him-8; gfp::pig-1. The pig-1 gene has been previously studied in neuroblast cells in C. elegans and is required for …

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 …

Unilateral Tongue Atrophy In Smad3: A Case Report, Gloria Galloway

Nursing & Health Sciences Research Journal

Background: Mothers Against Decapentaplegic Homolog 3 (SMAD3) is a disorder of the protein encoded at locus 15q22.33 and involved in the transcription of growth factor-beta (TGF) signalling. In this disorder, SMAD3 encoding is impaired, resulting in a connective tissue disorder with multisystem involvement (Bertoli-Avella et al., 2015; Dulac et al., 2019). This case is the first to describe unilateral tongue atrophy as an initial presentation of SMAD3, thereby providing an important contribution to the literature. Clinical History and Exam: A 43-year-old patient described a 1–2-week history in which he noted that half of his tongue had wasted away, and he …

Genome-Wide Expression Profiling And Phenotypic Analysis Of Downstream Targets Identify The Fox Transcription Factor Jumeau As A Master Regulator Of Cardiac Progenitor Cell Division, M. Rezaul Hasan

Bakerman Student Research Awards

Forkhead box (Fox) transcription factors (TFs) mediate multiple conserved cardiogenic processes in both mammals and Drosophila. Our prior work identified the roles of two Drosophila Fox genes, jumeau (jumu) and Checkpoint suppressor 1-like (CHES-1-like), in cardiac progenitor cell specification and division, and in the proper positioning of cardiac cell subtypes. Fox TF binding sites are also significantly enriched in the enhancers of genes expressed in the heart, suggesting that these genes may play a core regulatory role in one or more of these cardiogenic processes. We identified downstream targets of Jumu by comparing transcriptional expression profiles of flow cytometry-sorted mesodermal …

A Drosophila Model Of Mucopolysacchridosis Iiia, Rebecca Bishop

All Theses

Mucopolysaccharidosis IIIA (MPS IIIA) is a rare lysosomal storage disorder that arises from inability to break down heparan sulfate (HS) because of mutations in the N-sulfoglucosamine sulfohydrolase (SGSH) gene. We used a deletion mutant of the Drosophila melanogaster Sgsh gene along with three point mutations analogous to mutations observed in patients (S64W, L89P, S301P) to show an increase in the average percent of area with lysosomal puncta in the fly brains of our mutants using Lysotracker. RNA sequencing of brains of mutant and control flies showed 441 (Knockout), 337 (S64W), 155 (L89P), and 96 (S301P) differentially expressed …

Production Objectives And Trait Preferences Of Smallholder Farmers In The Philippines: Implications For Designing Breeding Schemes Utilizing Indigenous Swine Genetics, Joy Banayo, Kathlyn Louise Manese, Kaito Furusho, Madeline Kingan, Justine Ayomen, Marcelino Saliw-An, Karina Marie Nicolas, Kayvin Joel Petipit, Dorothy Pagbilao, Vea Roven Arellano, Rene Santiago, Flomella Caguicla, Arnolfo Monleon, Giselle Perlas, Giselle Perlas, Rea Palma Ortego, Sharon Singzon, Agapita Salces, Takahiro Yamagata

The Philippine Agricultural Scientist

Profit maximization is not the only production objective in farming. For smallholder farms worldwide, family sustenance often takes priority, with production being viewed more as savings-oriented than market-oriented. Furthermore, market pressures can lead to the mismanagement of indigenous livestock resources, increasing their risk of genetic erosion. To ensure the long-term conservation of the Philippine native pig, this study aimed to determine the various types of native pig farmers and define the intervention strategies for each type. A total of 432 native pig farmers representing seven provinces in the Philippines (Benguet, Kalinga, Isabela, Nueva Vizcaya, Quezon, Marinduque, and Eastern Samar; n …

Root Plasticity Of Selected Corn (Zea Mays L.) Varieties Grown For Food And Forage In Response To Fertigroe®-N And Urea, Vanica Apostol, Edna Aguilar, Lilia Fernando, Lourdes Edano Ma., Tonette Laude, Eureka Teresa Ocampo

The Philippine Agricultural Scientist

Root plasticity, the capacity of a corn root system to modify its growth and development in response to varying environmental conditions, is a crucial adaptability trait for optimizing water and nutrient uptake, especially in a challenging environments. Understanding root plasticity provides insights into the pattern basis of crop adaptation, contributing to the development of improved corn varieties and agricultural practices that optimize the production of both ear shoots and forage. This study assessed root traits and other morphological-physiological responses of three corn varieties (NK8840, IPB Var 6, and Pearl Sweet) grown for food (ear shoots) and forage (baby corn fodder) …

The Role Of Wt1 In Müllerian Duct Development, Jace Aloway

Dissertations and Theses (Open Access)

WT1 is a zinc finger transcription factor widely expressed in the urogenital system. Human mutations of WT1 lead to pediatric nephroblastoma as well as frequent differences of sex development (DSDs). Previous studies have suggested that WT1 acts as an activator for Amhr2, a necessary component of typical male differentiation. We used the mouse as a model to investigate the role of WT1 in sex development, where we deleted Wt1 in the Müllerian duct (MD) mesenchyme using a novel conditional null reporter allele, Wt1 flox-RFP. This allele utilizes the Cre-lox system to delete exons 8 and 9 of Wt1 …

The Effects Of Mosaicism On Biological And Clinical Markers Of Alzheimer's Disease In Adults With Down Syndrome, Laura Xicota, Lam-Ha T. Dang, Alice Lee, Sharon Krinsky-Mchale, Deborah Pang, Lisa Melilli, Sid E. O’Bryant, Rachel L. Henson, Charles Laymon, Florence Lai, H. Diana Rosas, Beau Ances, Ira Lott, Christy Hom, Bradley Christian, Sigan Hartley, Shahid Zaman, Elizabeth Head, Mark Mapstone, Zhezhen Jin, Wayne Silverman, Nicole Schupf, Benjamin Handen, Joseph H. Lee, Alzheimer’S Biomarker Consortium – Down Syndrome (Abc-Ds)

Neurology Faculty Publications

Background Individuals with Down syndrome (DS) are at high risk of early-onset Alzheimer’s disease (AD); yet, some 20 percent do not develop any signs of dementia until after 65 years or in their lifetime. Mosaicism could contribute to this phenotypic variation, where some disomic cells could lead to lower levels of gene products from chromosome 21.

Methods We examined longitudinal neuropsychological and biomarker data from two large studies of DS: the Alzheimer Biomarker Consortium–Down syndrome study (ABC-DS) (n = 357); and a legacy study (n = 468). We assessed mosaicism using karyotyping or GWAS data. Participants had data on plasma …

Functional Analysis Of The Zebrafish Orthologs Of Host Cell Factor 1 Gene, David Paz

Open Access Theses & Dissertations

Host Cell Factor C1 (HCFC1) is a transcriptional co-activator factor that regulates the expression of over 5000 different downstream target genes in human cells. Missense mutations in the HCFC1 gene cause methylmalonic acidemia homocysteinemia cblX type (cblX). cblX, a multiple congenital anomaly syndrome (MCA) characterized by abnormal brain development, craniofacial abnormalities, metabolic deficits, and intractable epilepsy. Published studies suggest that HCFC1 regulates neural precursor proliferation, number, and differentiation. However, these results were derived from studies that were performed with nonsense alleles or transient knockdown approaches. Although these results demonstrate the importance of HCFC1 in brain development, they do not replicate …

Independent Evolution Of Oleate Hydratase Clades In Bacillales Reflects Molecular Convergence, Robert J. Neff, Priscilla C. Lages, Shannon K. Donworth, James D. Brien, Christopher D. Radka

Markey Cancer Center Faculty Publications

Oleate hydratase (OhyA), a flavoenzyme that catalyzes the hydration of unsaturated fatty acids, has been identified in various Bacillales organisms, including those in the Listeria, Lysinibacillus, Paenibacillus, and Staphylococcus genera. In this study, we combine structural biology with molecular and phylogenetic analyses to investigate the evolutionary dynamics of the OhyA protein family within the Bacillales order. Our evolutionary analysis reveals two distinct OhyA clades (clade I and clade II) within Bacillales that, while sharing catalytic function, exhibit significant genomic and structural differences. Our findings suggest that these OhyA clades originated from independent evolutionary processes through convergent evolution rather than gene …

Assessing The Temporal Role Of Mir-200 Loss In Murine Models Of Nsclc, Jared Fradette

Dissertations and Theses (Open Access)

Lung cancer is the leading cause of cancer related deaths in the United States, with non-small cell lung cancer (NSCLC) making up a majority of new diagnoses. Metastasis is the big killer in NSCLC and is driven by epithelial-mesenchymal transition (EMT) and immune evasion. The microRNA 200 family is a master regulator of EMT and is implicated in immune regulation. In this study we have developed a novel genetically engineered mouse model (GEMM) and derived primary cell lines from them to explore the role of microRNA-200 in early EMT and immune changes. Our model combines conditional activation of Kras^{G12D …}