Genetics and Genomics Commons^™

Untangling G-Quadruplexes In Dna: The Effects Of Nucleotide Excision Repair, Jaidelin Alvardo, Abiageal Riley, Erick Morales Orrante, Raynne Malik

Posters - 2026

Nucleotide Excision Repair (NER) remo ves bulky DNA lesions that are attributed to UV irradiation, environmental mutagens, and chemo-therapeutic agents (Schärer, CSH Perspectives Biology, 2013). G4- quadruplexes are formed by four guanines hydrogen bonded together to form a planar ring, and stacking of the hydrophobic G quartets stabilizes the quadruplex structure Capra et al.,PLoS Computational Biology, 2010). A surplus of this structure is linked to genomic Instability and cancer development.

Prior studies indicate that because NER eliminates large lesions of DNA, there may be a link to the removal of G4-quadruplexes through Nucleotide Excision Repair (De Magis et al, Nature,2020). …

Exploring Base Excision Repair Using Gene Knockout, Gregory Guantos, Cailyn Brock, Kamily Visser, Dylan Vargas

Posters - 2026

•             Base Excision Repair (BER) fixes damaged 3DNA bases throughout the cell cycle by removing damaged bases and replacing either one nucleotide in short-patch BER or a short stretch of nucleotides in long-patch BER. (Hindi, 2021, Cellular and Molecular Life Sciences:CMLS)

•             4G-quadruplexes (G4s) are 4 stranded secondary DNA structures formed in guanine rich areas of DNA and RNA. (Rhodes, 2015, Nucleic Acids Research)

The URA3 plasmid was used as a PCR template to make a gene deletion construct, then yeast were transformed so APN1 was replaced by URA3. 2APN1 encodes a major DNA repair enzyme in yeast, and strains …

Epigenetic Mechanisms For Mediating The Transmission Of Prenatal Maternal Stress And Associated Neurodevelopmental Outcomes, Kaylee Vis

Senior Honors Theses

The hypothalamic-pituitary-adrenal (HPA) axis is the primary stress response system responsible for regulating cortisol release. During pregnancy, maternal stress can dysregulate the HPA axis, leading to elevated cortisol and corticosterone levels that impact fetal development. Excessive prenatal exposure to stress has been associated with alterations in fetal brain structure and function, increasing the risk for neurodevelopmental disorders such as autism spectrum disorder, attention-deficit/hyperactivity disorder, and anxiety. Emerging research supports the idea that these neurodevelopmental effects may be transmitted through epigenetic mechanisms. However, a gap remains in the literature regarding the specific mechanism of interaction between environmental stressors, heritable epigenetic information, …

Sox18 Unleashed Exploring The Transcriptomic Landscape - Differential Gene Expression Analysis Via Rna Seq In Overexpressed Sox18, Van Nguyen, Kahlie Hernandez, Monabelle Elbayeh

Posters - 2026

Cancer remains a leading cause of death worldwide, and childhood sarcomas such as Rhabdomyosarcoma (RMS) and Ewing Sarcoma (ES) are particularly aggressive with limited targeted treatment options. Despite advancements in cancer therapies, metastatic sarcomas still have a survival rate below 30%, emphasizing the need for new therapeutic targets. SOX18, a transcription factor has played a role in vascular development and endothelial differentiation, functioning as a key driver of angiogenesis. In cancer, increased SOX18 expression has been linked to dysregulated cell migration, invasion, and therapy resistance mechanisms. However, the extent to which SOX18 influences RMS and ES at the transcriptional level …

Detecting Cancer Genes Using Graph Neural Networks, Marvin Masabo Nkaka

Posters - 2026

• Cancer survival prediction is challenging due to the complexity of genomic data and limited samples especially for rarer cancer types. • To address this challenge, we developed an Artificial Neural Network (ANN) model for survival analysis using RNA-sequencing gene expression data from The Cancer Genome Atlas (TCGA). • Moreover, a key concept we investigate was how transfer learning enhanced our model’s performance especially for rarer cancer types difficult to perform accurate survival analysis due to their limited samples.

Understanding P53 Regulation On Transposable Elements In Cancer, Xuan Qu

Arts & Sciences Graduate Student Theses and Dissertations

Transposable elements (TEs), traditionally known as “jumping genes”, are known to have the ability to move in the genome and alter the activation of transcriptions from nearby genes. Taking up nearly half of the human genome, TEs have evolved, and some have been selected to play important roles in biological processes. We found that in human diseases such as cancer, global hypomethylation resurrects many ordinarily silenced TEs. These TEs can often serve as alternative promoters for oncogenes and play functionally meaningful roles in driving disease processes. One of the top genetic mutation status that correlates with differential numbers of TE …

A Randomized Study Of Digital Versus Genetic Counselor Return Of Actionable Genetic Research Results To Biobank Participants (Respect3 Study), Anuja Rajendra Godbole, Elisabeth Wood, Brian Egleston, Lily Hoffman-Andrews, Sarah Brown, Sarah Howe, Sanjana Shastri, Rajia Mim, Justin Feng, Anjali Owens, Susan Domchek, Reed Pyeritz, Bryson Katona, Staci Kallish, Giorgio Sirugo, Joellen Weaver, Linda Fleisher, Kuang-Yi Wen, Elena Elkin, Katherine Nathanson, Daniel Rader, Angela Bradbury

Department of Medical Oncology Faculty Papers

BACKGROUND: There is consensus that research participants should be informed about plans for return of genetic research results. However, best practices for return of results in large biobank and cohort studies do not exist currently, and how best to communicate actionable genetic research results remains unclear. While having genetic counselors disclose these results may be ideal to ensure understanding, minimize distress, and optimize medical follow-up, genetic counselor (GC) workforce shortages and costs are barriers. The RESPECT3 study evaluates whether digital delivery alternatives for pre-disclosure education and return of actionable genetic research results is non-inferior to remote telehealth disclosure by a …

Phenol–Chloroform Dna Extraction For Dna Amplification From Personal Items, Aditya Rahman Ernanto, Dinda Amaliyatul Khasanah, Yunita Aldirahayu, Rizki Setiyaningrum, Arya Iswara

Makara Journal of Science

This study examined the feasibility of extracting DNA from various personal items using the phenol–chloroform–isoamyl alcohol (PCIA) method. A towel, collared shirt, toothbrush, shower puff, comb, hair tie, and buccal swabs were analyzed. The quality of the DNA extraction, along with DNA concentration, purity, and suitability for multiplex PCR amplification, were evaluated. The shower puff exhibited the highest DNA concentration (68.35 ng/µL), whereas the collared shirt yielded the lowest (26.43 ng/µL). All samples exhibited good DNA purity (A260 nm/A280 nm ranging from 1.827 to 1.985), emphasizing the potential of this method for forensic analysis. Factors influencing DNA concentration included material …

Auditory Stimulation Rescues Cognitive Deficit In Fmr1-Ko Mice, Mohamed Ouardouz, Amanda E. Hernan, J. Matthew Mahoney, Rodney C. Scott

Department of Medicine Faculty Papers

Background/Objectives: Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by a triplet repeat expansion in the Fmr1 gene leading to the loss of Fragile X Messenger Ribonucleoprotein (Fmr1 protein). The loss of Fmr1 protein modulates many cell biological processes and leads to the emergence of intellectual disability and autism. FXS is modeled in Fmr1-KO mice that display features consistent with human FXS, including hypersensitivity, cognitive and learning deficits, hyperactivity and audiogenic seizures. Here, we investigated the effect of auditory stimulation during a range of developmental stages on recognition memory and sociability deficits in Fmr1-KO mice. Methods: Fmr1-KO mice were …

Lab-Made 100 Bp Dna Ladder Using Polymerase Chain Reaction And Human Dna, Muhammad Ilmam Bariqi, Zulham Yamamoto, Putri Chalya Firjatu, Luthfi Umam Hakim Nasution, Oryza Sativa Lubis

Makara Journal of Science

Polymerase chain reaction (PCR) is a rapid, molecular biology technique widely used in disease diagnosis and genetic engineering. Conventional PCR products require agarose gel electrophoresis, which employs a DNA ladder as a size reference. Most commercial ladders are plasmid-based and reliable but require additional culture time. We suggest a more efficient method for producing a DNA ladder using DNA derived from human blood. DNA was isolated using a commercial kit. Primer sets generating 100–1000 base pair (bp)-long fragments bearing target regions p12, p13, and p14 were designed using Primer-BLAST. DNA was amplified by routine PCR, visualized on a 1% (w/v) …

Multiplex Functional Assessment Of Variant Effect In The Retinal Transcription Factor Crx, James Lewis Shepherdson

Arts & Sciences Graduate Student Theses and Dissertations

The transcription factor Cone-Rod Homeobox (CRX) is a master regulator of photoreceptor cell fate. Sequence variants in CRX can cause Retinitis Pigmentosa, Cone-Rod Dystrophy, and Leber Congenital Amaurosis, all inherited causes of vision loss and blindness. CRX is the only gene implicated in the pathogenesis of all three of these diseases, which present with both rod- and cone-centric phenotypes of varying age of onset and severity. Several CRX variants have been reported to cause severe dominant disease through antimorphic genetic interactions with wild-type CRX, and yet these mutations are adjacent to variants which are benign or only cause mild, recessive …

Reproductive Performance And Its Association With Esr, Prlr, Fshb Genes In Indigenous “I” Pigs, Do Duc Luc, Phan Thi Tuoi, Nguyen Thai Anh, Do Thi Hue, Nguyen Hoang Thinh

The Thai Journal of Veterinary Medicine

Improving the reproductive performance of sows plays an important role in the pig industry, and it applies not only to commercial pigs but also to indigenous pigs. In this study, the polymorphisms of three genes, namely estrogen receptor (ESR), prolactin receptor (PRLR), and follicle-stimulating hormone beta subunit (FSHB) in the “I” pig population were investigated, and their associations with reproductive performance were evaluated. Ear tissue samples were collected from 151 fattening pigs and 126 sows across breeding farms in Vietnam for polymorphisms of the ESR, PRLR and FSHB genes. Three genotypes (AA, AB, and BB) were detected at the …

From Fair To Cure: Guidelines For Computational Models Of Biological Systems, Herbert M. Sauro, Eran Agmon, Michael L. Blinov, John H. Gennari, Joseph L. Hellerstein, Adel Heydarabadipour, Bartholomew E. Jardine, Elebeoba May, David P. Nickerson, Lucian P. Smith, Gary D. Bader, Frank T. Bergmann, Patrick M. Boyle, Andreas Dräger, James R. Faeder, Song Feng, Juliana Freire, Fabian Fröhlich, James A. Glazier, Thomas E. Gorochowski, Tomas Helikar, Henning Hermjakob, Stefan Hoops, Peter Hunter, Princess I. Imoukhuede, Sarah M. Keating, Matthias König, Reinhard Laubenbacher, Leslie M. Loew, Carlos F. Lopez, William W. Lytton, Rahuman S. Malik-Sheriff, Andrew Mcculloch, Pedro Mendes, Lealem Mulugeta, Chris J. Myers, Jerry G. Myers, Anna Niarakis, David D. Van Niekerk, Brett G. Olivier, Alexander A. Patrie, Ellen M. Quardokus, Nicole Radde, Johann M. Rohwer, Sven Sahle, James C. Schaff, Falk Schreiber, T. J. Sego, Janis Shin, Jacky L. Snoep, Rajanikanth Vadigepalli, H. Steven Wiley, Dagmar Waltemath, Ion I. Moraru

Computational Medicine Center Faculty Papers

Guidelines for managing scientific data have been established under the FAIR principles, requiring that data be Findable, Accessible, Interoperable, and Reusable. In many scientific disciplines, especially computational biology, both data and models are key to progress. For this reason, and recognizing that such models are a very special type of "data", we argue that computational models, especially mechanistic models prevalent in medicine, physiology and systems biology, deserve a complementary set of guidelines. We propose the CURE principles, emphasizing that models should be Credible, Understandable, Reproducible, and Extensible. We delve into each principle, discussing verification, validation, and uncertainty quantification for model …

Supplemental Data For Gulf Coast Walleye Edna Survey, Kevin W. Jones

Research Data

This file contains the full eDNA collection and amplification dataset for:

Jones, K.W. (2026). Development and application of an eDNA protocol for the detection of Gulf Coast Walleye (Sander vitreus) in Mississippi [Thesis submitted for publication]. Department of Wildlife, Fisheries, and Aquaculture, Mississippi State University.

Genetic Variants And Molecular Components Associated With Metabolic Dysfunctional-Associated Steatotic Liver Disease And Depression: Shared Association Of Adamts7 And Thrap3, Eron G. Manusov, Vincent P. Diego, Marcio A. Almeida, Jacob A. Galan, Kathryn Herklotz, Edwardo Abrego Ii, Habiba Sultana, Luis A. Peña Marquez, Marco Arriaga, Marcelo Leandro, Juan M. Peralta, Ana C. Leandro, Tom Howard, Joanne Curran, Sandra Laston, John Blangero, Sarah Williams-Blangero

Human Genetics Publications

Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) and depression frequently occur together. Identifying the genes that influence both MASLD and depression may facilitate the discovery of biological pathways associated with disease risk.

Methods: We recruited 525 participants from Mexican American families living in the Rio Grande Valley of south Texas. We collected clinical data, biometric measurements, hepatic health assessments using Vibration-Controlled Transient Elastography (VCTE), and depression evaluations determined with the Beck Depression Inventory-II. We estimated the heritability (h2) of MASLD-related measures, depression status, aspartate aminotransferase (AST), alanine aminotransferase (ALT), the AST/ALT ratio, and Vibration-Controlled Transient Elastography measurements. For each gene, …

Structural Brain Analysis In Focal Upper Limb Dystonia, Danilo Donizete De Faria, Artur José Marques Paulo, Joselisa Péres Queiroz De Paiva, Anderson M. Winkler, Vanderci Borges, Sonia Maria Azevedo Silva, Henrique Ballalai Ferraz, Patricia De Carvalho Aguiar

Human Genetics Publications

Prior structural magnetic resonance imaging (MRI) studies that investigated structural alterations in focal dystonia have reported inconsistent findings, potentially due to methodological limitations or sample heterogeneity. This work investigates gray and white matter changes in patients with upper limb dystonia using T1-weighted images and diffusion tensor imaging (DTI). Imaging data collected with MRI at 3T from 28 right-handed individuals with right upper limb dystonia and 29 healthy controls were analyzed. T1-weighted images were analyzed using FreeSurfer to examine cortical thickness, volume and area. DTI data were assessed using tract-based spatial statistics, regions of interest (ROI) analysis and probabilistic tractography. ROI …

Genetic Testing Motivations Among Men With A History Of Prostate Cancer: A Judgment-Based Analysis, Maximilian Junge

USF Tampa Graduate Theses and Dissertations

Identifying individuals at increased hereditary cancer risk through genetic testing can improve early detection, inform treatment decisions, and enhance outcomes for patients and their families. While prior research has largely focused on women, less is known about factors that motivate men with prostate cancer to pursue genetic testing. This study examined components of visual messaging that may influence motivation to undergo genetic testing among men with a self-reported history of prostate cancer. Participants completed a survey in which they viewed eight visual messages that systematically varied across three components: image type (family-focused vs. individualized treatment-focused), written content (familial risk-focused vs. …

Assessing Capability, Opportunity, And Motivation In Relation To Guideline Adherence For Inherited Cancer Risk, Cecilia L. Delisanti

USF Tampa Graduate Theses and Dissertations

Introduction: Although National Comprehensive Cancer Network (NCCN) guidelines provide cancer screening or risk reduction recommendations for individuals with germline pathogenic and likely pathogenic variants (GPVs) in actionable hereditary cancer genes, guideline adherence remains inconsistent, and the behavioral contributors to this gap remain understudied. To identify behavioral factors related to adherence across inherited cancer risk genes, this study used the COM-B model, which posits that capability, opportunity, and motivation shape health behaviors.

Methods: IMPACT study participants, all with GPVs in a variety of actionable genes, completed surveys (N=575). Minimal adherence was based on gene-specific NCCN guidelines. COM-B constructs (capability, opportunity, motivation) …

Epigenetic Activation Of Ebv Bglf4 Determines Antiviral-Based Regimen Response In Ebv+Cns Lymphoproliferative Disease, Christoph Weigel, Haley Klimaszewski, Fode Tounkara, Selamawit Addissie, Sarah Schlotter, Betsy Pray, James Dugan, Bradley Haverkos, Lynda Villagomez, Mark Lustberg, Pierluigi Porcu, Timothy Voorhees, Richard Ambinder, Shannon Kenney, Joyce Fingeroth, Henri-Jacques Delecluse, Michael Caligiuri, Lapo Alinari, Ginny Bumgardner, Christopher Oakes, Robert Baiocchi

Kimmel Cancer Center Faculty Papers

Epstein-Barr virus (EBV)–associated primary central nervous system lymphoproliferative diseases (EBV+PCNSL) are aggressive conditions with poor prognoses. We previously reported durable responses in patients with PCNSL who were treated with the antivirals ganciclovir and azidothymidine, plus rituximab and dexamethasone (GARD). Responses were associated with the detection of the lytic viral protein kinases, BGLF4 and BXLF1. These antiviral activating kinases are associated with lytic EBV, however, the mechanism for expression in latently infected EBV+CNSL is unknown. Expanding on previous work, we provide long-term clinical outcome data (N = 24) and show that RNA expression analysis in CNSL tissue biopsies (n = 12) …

The Role Of The Virb Ligand Ctp In The Molecular Mechanism Of Transcriptional Anti-Silencing In Shigella Flexneri, Taylor M. Gerson, Monika M A Karney, Helen Wing

Life Sciences Faculty Research

In bacteria, nucleoid-structuring proteins bind and constrain DNA, often leading to transcriptional silencing. In Shigella spp., the histone-like nucleoid-structuring protein H-NS silences many genes on the large virulence plasmid. Upon a shift to human body temperature, VirB, a DNA-binding protein and key transcriptional regulator of the Shigella virulence cascade, is produced. VirB counteracts H-NS-mediated transcriptional silencing and belongs to a fast-evolving clade of the ParB superfamily. Like other ParB proteins, VirB binds the ligand CTP. While CTP is essential for the anti-silencing activity of VirB, the role of CTP in the mechanism of VirB-dependent anti-silencing has yet to be …