Genetics and Genomics Commons^™

Functional Protein Biomarkers Based On Distributions Of Expression Levels In Single-Cell Imaging Data, Misung Yi, Tingting Zhan, Hallgeir Rui, Inna Chervoneva

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

MOTIVATION: The intra-tumor heterogeneity of protein expression is well recognized and may provide important information for cancer prognosis and predicting treatment responses. Analytic methods that account for spatial heterogeneity remain methodologically complex and computationally demanding for single-cell protein expression. For many functional proteins, single-cell expressions vary independently of spatial localization in a substantial proportion of the tumor tissues, and incorporation of spatial information may not affect the prognostic value of such protein biomarkers.

RESULTS: We developed a new framework for using the distributions of functional single-cell protein expression levels as cancer biomarkers. The quantile functions of single-cell expressions are used …

The Roles Of Cup1, Ssu1, And Mitochondrial Dna In Copper Tolerance In Wild Yeasts, Madeleine Panek

Undergraduate Honors Theses

Understanding the genetic basis of complex traits remains a central challenge in biology. In Saccharomyces cerevisiae, copper resistance is a multifactorial trait shaped by both genetic and environmental influences, yet its underlying mechanisms are not fully understood. The genes CUP1 and SSU1 are known to influence copper resistance, though how these genes interact with each other and with mitochondrial DNA (mtDNA) variation in wild yeast populations is unknown. I hypothesized that the genes CUP1 and SSU1 and variation in mtDNAs contribute to copper resistance in wild yeasts independently and through genetic interactions. To test this, I measured copper resistance …

Missense Mutation Of Msh6 Leucine 696 Has No Apparent Effect On The Dna Mismatch Repair Process, Razan H. Hammad, Rafia Rashid, Essence Tarrence, Christopher Bolden, Joanna E. Haye-Bertolozzi

XULAneXUS

Lynch Syndrome and Constitutional Mismatch Repair Deficiency are human diseases implicated in mutations of DNA mismatch repair (MMR) genes. This experiment tested a mutation of an MMR gene, MSH6, and evaluated how the mutation affected overall MMR effectiveness. Using the yeast Saccharomyces cerevisiae, we performed the CAN1 forward mutation assay to study msh6-L696F and its implications in the MMR process. We hypothesized that there would be a significant change in molecular function in the Msh6 protein in the presence of this mutation. Bioinformatic tools predicted that this amino acid change would have deleterious effects on MMR function. However, …

Leveraging Attention Mechanism To Unlock Gene And Protein Attributes, Ala Jararweh

Computer Science ETDs

Advancing personalized medicine depends on effectively integrating and interpreting the vast, heterogeneous landscape of biological data, from genomic sequences and transcriptomics to the insights embedded in scientific literature. Current machine learning models often focus on single data modalities, limiting their capacity to capture the multifaceted nature of biological systems. We address this gap by developing three attention-based machine-learning models integrating diverse data modalities. Firstly, DeepVul is a multi-task model that leverages cancer transcriptome data to predict genes critical for cancer survival and their corresponding drugs. Subsequently, LitGene refines gene representations by integrating textual information from the scientific literature. Finally, Protein2Text …

Discovery Of Suitable Habitat For Freshwater Mussel Species In The Appomattox River Through The Use Of Environmental Dna., Nicholas Duellman

Longwood Senior Thesis Proposal

Freshwater mussels are a keystone species providing crucial ecosystem services and river composition resiliency. Anecdotal evidence suggests the presence of freshwater mussels within the Appomattox river, the specifics of population sizes and suitable habitat remains an open question. Environmental DNA (eDNA) usage in conservation ecology has exploded in use within the past two decades, being far less invasive and cost-demanding than traditional methods. An eDNA metabarcoding pipeline of the 16s mitochondrial ribosomal subunit was built in R v. 4.4.2, using dada2 v. 3.2.1 package to trim MinION single read ASV outputs for freshwater mussel species identification in the interest of …

Characterizing Kmt2d In Endometrial Cancer, Katherine R. Davanzo

Medical Student Research Symposium

Endometrial cancer is rising in incidence in the United States, notably among premenopausal women. This increase and the trend of delayed childbearing warrant the need for further advancement in fertility-sparing treatment for endometrial cancer. A gene left widely unexplored in its possible clinical utility as a target for fertility-sparing treatment is KMT2D, a lysine-specific methyltransferase and tumor suppressor. Preliminary gene set enrichment analysis on a 12Z endometriotic epithelial cell line identified TIMP3 as a gene that is possibly regulated by KMT2D expression. TIMP3 encodes an irreversible inhibitor of matrix metalloproteinases (MMPs), a well-recognized class of proteins as contributing to the …

Fisheries Management Paper No.286: Western Australian Octopus Resource Harvest Strategy, Department Of Primary Industries And Regional Development, Western Australia

Fisheries Management Papers

Harvest strategies for Western Australia’s (WA) aquatic resources are formal documents developed to support decision-making processes that ensure the outcomes are consistent with the principles of Ecologically Sustainable Development (ESD; Fletcher 2002a) and Ecosystem Based Fisheries Management (EBFM; Fletcher et al. 2012). Harvest strategies are a key component of all contemporary fishery management systems and a requirement for certification under the Marine Stewardship Council (MSC). The objectives of ESD are reflected in the objectives of the Fish Resources Management Act 1994 (FRMA).

This Octopus Resource Harvest Strategy (Harvest Strategy) has been developed and revised in line with the Harvest Strategy …

Investigating Sk-3 Based Spore Killing In Neurospora Crassa Through Deletion Analysis Of Dna Intervals I383 And I394, Paulina Paulikas

Senior Theses – Biological Sciences

Neurospora fungi are found around the world. The species N. crassa is a popular model for use in genetics research. N. crassa produces sexual spores, called ascospores, during mating between strains of opposite mating types. N. crassa also produces spore sacs called asci, and each ascus typically contains eight viable ascospores. However, some Neurospora fungi carry selfish genetic elements called Spore killers, and when a strain carrying a Spore killer mates with a spore killing-susceptible strain, asci contain four black viable ascospores and four white inviable ascospores. In this project, I investigated a Spore killer called Sk-3. To act as …

Examining Genomic Islands To Trace The Evolution Of The Urinary Microbiome, Elena G. Renshaw

Senior Theses

There has been a longstanding misconception that the healthy human urinary tract is sterile; however, increasing evidence demonstrates the presence of a dynamic resident urinary microbiota. Emerging research suggests that the urinary microbiota plays a protective role against urological symptoms and infection, but interactions between urinary bacterial species remain understudied. Genomic islands (GIs) are large DNA segments acquired through horizontal gene transfer between bacteria and can provide fitness advantages, particularly to uropathogens. This research utilizes 1,301 genome sequences isolated from urine samples representing the bacterial diversity found within the human urinary tract. GIs were annotated using IslandViewer 4 and TreasureIsland. …

Examining The Mechanism Of Spore Sacs Undergoing Sk-3-Based Spore Killing After Deletion Of Neurospora Crassa Dna Intervals I382 And I400, Makenna Klann

Senior Theses – Biological Sciences

Neurospora crassa is a well-known model organism for studying eukaryotic genetics, particularly non-Mendelian inheritance mechanisms such as meiotic drive. In N. crassa, meiotic drive can be observed in fungal spore killing, where Spore killer-3 (Sk-3) is a selfish genetic element transmitted to offspring through spore killing. Sk-3 is thought to contain two principal components: a killer (poison) gene and a resistance (antidote) gene. While the resistance gene (rsk) has been identified, the killer gene remains unknown. Building on previous research that identified a 1.3 kb DNA interval (i350) essential for Sk-3-based spore killing, I …

Determining The Effects That Deletion Of I386 And I408 Have On Sk-3-Type Spore Killing, Kole Damkoehler

Senior Theses – Biological Sciences

Neurospora crassa is a genus of fungus that exhibits a phenomenon called Sk-3 spore killing. Sk-3 spore killing occurs when an Sk-3 killer strain mates with an Sk-3 sensitive strain, and it results in the death of half of the offspring. A DNA interval called i350, located on N. crassa Chromosome III, has previously been identified as critical for spore killing. Here, to obtain a more detailed understanding of this DNA interval, the effects of the deletion of related DNA intervals i386 and i408 on spore killing has been studied. Deletion of i386 resulted in no disruption of spore …

Barriers In Receiving A Diagnosis Of Sanfilippo Syndrome: Perceptions From Healthcare Providers And Caregivers, Cassidy Lena

Theses and Dissertations

Sanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting neurological functioning, behavior, and quality of life. Diagnosis is often not made until three to six years of age, but comprehensive and effective symptom management have been reported to optimize patient longevity. The aim of this study was to identify barriers to diagnosis and the corresponding impact on patients. This study surveyed healthcare providers and caregivers of individuals with Sanfilippo syndrome. Both quantitative and qualitative methods were employed to assess provider knowledge and comfortability in managing Sanfilippo syndrome. Additionally, it explored caregiver perspectives on healthcare system navigation, …

Genetics Education Booklets Designed For Individuals With Intellectual Disability: Perspectives From Adults With Intellectual Disability And Genetic Counselors, Audrey Hyun Sook Parrott

Theses and Dissertations

Visual aid tools have been consistently suggested across literature aimed at identifying methods of improving health and genetics services for individuals with intellectual disability (ID). Aids written in plain language are suggested most often. The study intends to gain perspectives from adults with ID (AWID) and genetic counselors (GCs) on Easy Read genetics educational booklets designed for individuals with mild ID. We anticipate that GCs will find the booklets to be useful and accurate, and that AWID will find the booklets to be helpful to their understanding and comprehensible. The AWID were assessed via a self-reported survey, cognitively adapted for …

An Exploratory Study Of Disclosure Of X-Linked Conditions Between Mothers And Daughters, Madge Isabella Stuhlreyer

Theses and Dissertations

Carriers of X-linked conditions, both asymptomatic and symptomatic, face unique challenges regarding their experiences navigating the healthcare system and understanding implications of their carrier status. Studies show that mothers are known to be the main communicators of genetic information within their families, but in families affected with X-linked conditions, communication between mothers and daughters are hindered by factors such as lack of knowledge about the condition and reproductive implications, lack of emotional support, anxiety, and uncertainty about how to initiate these conversations. The purpose of this study was to explore the motivations behind mothers' decisions to initiate conversations with their …

Increasing Diversity In The Genetic Counseling Profession: Determining Effective Career Education Strategies For Underrepresented Youth, Bryel Marie Frasch

Theses and Dissertations

Genetic counseling is a professional career path that is lacking in diversity, and diversity in healthcare has been shown to improve health outcomes. Studies suggest student engagement as a way to increase diversity, as early knowledge of genetic counseling increases the likelihood of considering it as a career and is especially true for racial or ethnic minoritized students. This study focused on educating high school students underrepresented in genetic counseling about the career and exploring the effectiveness of two different types of education methods (video vs in-person) to give valuable information for future outreach efforts. Upward Bound and Federal TRIO …

Newborn Screening For X-Linked Adrenoleukodystrophy: Experiences, Perspectives, And Future Directions For Genetic Counseling, Sophia Salvatore

Theses and Dissertations

There is a notable lack of research regarding genetic counseling practices for infants with screen-positive results for X-linked adrenoleukodystrophy (X-ALD) via newborn screening (NBS). The exploratory study aimed to understand the experiences of genetic counselors providing follow-up care for these infants, assess the complexities associated with NBS for X-ALD, identify potential gaps in genetic counseling practices, and describe the subsequent impact on patient care. A mixed-methods approach was utilized, incorporating an initial survey and optional semi-structured interviews with practicing genetic counselors who had seen a minimum of five cases of infants with screen-positive results for X-ALD in the last two …

Crispr-Induced Mutagenesis Of Arabidopsis Thaliana Gene Apetala3, Hazel Frans, Tara Phelps-Durr

SACAD: Scholarly Activities

This project aims to create CRISPR-CAS9 mutations in the APETELA3 (AP3) gene of the model plant Arabidopsis thaliana. AP3 is a class B gene critical to the petal and stamen development of Arabidopsis flowers. AP3 is defined in a MADS domain, which binds directly to DNA and may be responsible for the expression of the CaRG-box genes. AP3 works in conjunction with PISTILLATA (PI), AGAMOUS (AG), APETALA1 (AP1), and SEPALLATA (SEP) genes to specify the development in the second and third whorls of the flower. While several alleles of AP3 already exist, these alleles are strong alleles that knockout gene …

Studies On Cell Cycle Regulation And Ecm Modification During Tubular Organ Formation In Drosophila Embryos, Jeffrey Matthew

LSU Doctoral Dissertations

The formation of tubular organs—such as the heart and kidneys—is a complex developmental process that requires the precise coordination of tissue remodeling with dynamic changes in cellular behavior. Key processes including cell proliferation, apoptosis, and extracellular matrix (ECM) formation must be tightly synchronized with mechanisms that generate and transmit physical forces, transforming a flat epithelial sheet into a three-dimensional organ. Disruptions in the homeostasis of these processes during organogenesis can lead to congenital defects, such as pulmonary atresia and renal hypoplasia.

To investigate the mechanisms underlying epithelial morphogenesis, the Chung laboratory employs the Drosophila embryonic salivary gland (SG) as a …

Morphological, Molecular, And Morphometric Analysis Of Aphelenchoides Besseyi On Organic Rice (Oryza Sativa) Seeds In The Beringin District, Deli Serdang Regency, Indonesia, Suswati Suswati, Azwana Azwana, Ifan Aulia Candra, Fitrianingrum Kuniawati, Khofifah Muhaimini Siregar, Asmaul Hasanah, Aldy Elvanandar Nasution

Makara Journal of Science

Aphelenchoides besseyi, a nematode, can infect rice resulting in the white shoot disease, which decreases the germina-tion rate and even causes seedling death. A. besseyi has recently been reported to mainly attack the organic rice varie-ties especially Pandanwangi and Ciherang in the Pasar Kawat, Beringin District, Deli Serdang, Indonesia. This research investigated A. besseyi via morphological, molecular, and morphometric approaches. The nematodes were observed in an area of 2000 m2, divided into five sample plots each with an area of 400 m2 on which Pandan Wangi and Ciherang rice were cultivated. Nematode morphology was observed using a stereo microscope at …

Exploring Religious Leaders’ Perspectives On Genetic Counseling, Testing, And Related Technologies, Kristina M. Wittenburg

USF Tampa Graduate Theses and Dissertations

Religion significantly influences healthcare decisions, including those related to genetic testing, by shaping ethical and emotional considerations. While some religious groups provide formal stances on genetic testing, others lack clear guidelines, leaving both patients and healthcare providers without consistent resources for navigating faith-informed decisions. Understanding religious leaders’ perspectives is critical to bridging this gap and supporting diverse patient needs. This study aimed to examine religious leaders’ perspectives on genetic testing, genetic counseling, in vitro fertilization (IVF), gene therapy, stem cell research, and abortion. These topics were explored to understand the role of religious beliefs in healthcare decisions, and to develop …

Identifying Racial Disparities In Patient Activation Outcomes In Genetic Counseling Sessions, Moriah M. Melhado

USF Tampa Graduate Theses and Dissertations

Patient empowerment and activation are critical determinants of health outcomes, fostering patients’ confidence, knowledge, and engagement in their care. While the influence of race and ethnicity on patient activation has been extensively studied with other healthcare providers such as physicians and nurses, limited research has explored this dynamic within genetic counseling (GC). This study combines a systematic literature review, following PRISMA guidelines, a secondary data analysis , and an exploratory qualitative analysis of patient interviews post-session to examine relationships between race, ethnicity, and patient activation or empowerment in GC. Search terms identified 536 peer-reviewed articles, of which 44 met inclusion …

Genetic Counseling Student Anxiety, Self-Efficacy, And Study Strategy Use For The Genetic Counseling Board Certification Exam., Teagan E. Nunnery

USF Tampa Graduate Theses and Dissertations

With a 76% pass rate for the 2024 American Board of Genetic Counseling (ABGC) certification exam, it's crucial to evaluate the study strategies used by candidates and their alignment with evidence-based practices. This study surveyed 84 genetic counseling students and graduates from 35 U.S. and Canadian training programs, focusing on demographic data, study strategy usage, anxiety, and self-efficacy. Study strategies were categorized into one of three groups: 1) active strategies, which promote recall and understanding, 2) passive strategies, and 3) hybrid, for strategies that involve both active and passive engagement as well as three metacognitive strategies: regulating learning, monitoring learning, …

Evaluating And Improving The Serious Game Life With Hereditary Cancer, Jenna K. Peterson

USF Tampa Graduate Theses and Dissertations

Hereditary cancer syndromes increase cancer risks for individuals with pathogenic variants and their family members, yet many at-risk individuals do not pursue genetic testing due to barriers in family communication. Serious games—interactive tools designed to educate through gameplay—offer a promising approach to addressing these barriers by engaging users and creating supportive learning environments. LIFE with Hereditary Cancer is a serious game designed to improve genetic literacy, promote informed decision-making, and encourage family conversations about hereditary cancer risks and genetic testing. This evaluation used a mixed-methods approach to assess participant emotions, perceptions, and experiences with LIFE with Hereditary Cancer and identify …

Emerging Technologies For Forensic Genetic Identification, Lilly Llanos

Senior Honors Theses

There are many new innovations in forensic science that are being developed for the identification of biological evidence. These techniques include next-generation DNA sequencing, DNA phenotyping, and forensic genetic genealogy. This thesis will explore each, as well as newer applications of proteomics. The methodologies, reliability, practicality of cost and training, moral implications, and past research of each will be discussed. Finally, some ideas for future research and steps to drive growth and greater understanding will be suggested. This will encourage further innovations and the increased acceptance of forensic evidence in court. Each method was found to have both advantages and …

Epigenetic Landscapes Of Aging In Breast Cancer Survivors: Unraveling The Impact Of Therapeutic Interventions-A Scoping Review, Nikita Nikita, Zhengyang Sun, Swapnil Sharma, Amy L Shaver, Victoria Seewaldt, Grace Lu-Yao

Department of Medical Oncology Faculty Papers

Breast cancer therapies have dramatically improved survival rates, but their long-term effects, especially on aging survivors, need careful consideration. This review delves into how breast cancer treatments and aging intersect, focusing on the epigenetic changes triggered by chemotherapy, radiation, hormonal treatments, and targeted therapies. Treatments can speed up biological aging by altering DNA methylation, histone modifications, and chromatin remodeling, affecting gene expression without changing the DNA sequence itself. The review explains the double-edged sword effect of therapy-induced epigenetic modifications, which help fight cancer but also accelerate aging. Chemotherapy and targeted therapies, in particular, impact DNA methylation and histone modifications, promoting …

Morphological Characterization, Pollen Viability, And Germinability Evaluation Of Two Plumeria Species In The University Of The Philippines Los Baños, Darel Kenth S. Antesco, Maria Charito E. Balladares, Alangelico O. San Pascual, Pablito M. Magdalita, Fernando C. Sanchez Jr

The Philippine Agricultural Scientist

The genus Plumeria, locally known as kalachuci, is a popular ornamental tree belonging to the Apocynaceae family. The University of the Philippines Los Baños (UPLB) maintains a collection of Plumeria trees scattered across its campus; however, the origin of these trees remains unclear due to a lack of proper documentation. This study conducted morphological characterization and pollen analysis to provide information for further research. Results revealed the presence of 2 Plumeria species in the campus. P. obtusa has a linear leaf shape with acute tips and revolute margins while P. rubra has a lanceolate leaf shape. Additionally, P. …

Antibiotic Resistome, Mobile Genetic Elements, And Virulence Profile Of Multidrug-Resistant Enterobacteriaceae Isolated From Healthy Philippine Native Chicken As Revealed By Analysis Of Whole Genome Sequence, Alvin P. Jimenez, Grignard James R. Buday, Rina B. Opulencia

The Philippine Agricultural Scientist

Gram-negative bacteria, particularly Enterobacteriaceae, acquire antibiotic resistance via horizontal transmission of resistance genes in poultry farms that give rise to multidrug-resistant (MDR) strains. The presence of MDR strains that are potentially pathogenic and zoonotic poses a concern to animal and human health. The aims of this study were to isolate MDR, potentially pathogenic Enterobacteriaceae from Philippine native chicken (PNC) and to analyze the genome of a representative MDR isolate to gain insights into the mechanisms, acquisition, and transmissibility of antibiotic resistance genes (ARGs). Cloacal swabs from PNC were used to isolate putative Salmonella that were then tested for antimicrobial …

Insulin Receptor Responsiveness Governs Tgfβ-Induced Hepatic Stellate Cell Activation: Insulin Resistance Instigates Liver Fibrosis, Wang-Hsin Lee, Evelyn A. Bates, Zachary A. Kipp, Sally Pauss, Genesee J. Martinez, Cheavar A. Blair, Terry D. Hinds Jr.

Markey Cancer Center Faculty Publications

The insulin receptor (INSR) has been shown to be hyperactive in hepatic stellate cells (HSCs) in humans and rodents with liver fibrosis. To explore HSC cellular mechanisms that INSR regulates during pro-fibrotic stimulation, we used CRISPR-Cas9 technology. We knocked out a portion of the INSR gene in human LX2 HSC cells (INSRe5- 8 KO) that regulates insulin responsiveness but not the insulin-like growth factor (IGF) or transforming growth factor-β (TGFβ) signaling. The INSRe5- 8 KO HSCs had significantly higher cell growth, BrdU incorporation, and lower TP53 expression that suppresses growth, and they also exhibited increased migration compared to the Scramble …

Variation In Thermal Tolerance Plasticity And The Costs Of Heat Exposure In The Estuarine Sea Hare, Phyllaplysia Taylori, Richelle L. Tanner, Rauri C. K. Bowie, Cynthia Y. Wang-Claypool, Jonathan H. Stillman

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Climate change is increasing average temperatures and the frequency and intensity of thermal extremes in coastal marine environments. Organisms in coastal marine habitats are accustomed to environmental fluctuations and possess physiological plasticity that may be advantageous in response to increased occurrence of extremes. To examine whether such plasticity is locally adapted to environmental conditions, we investigated the relationship between genetic diversity and thermal tolerance plasticity in 11 populations of the direct-developing intertidal sea hare, Phyllaplysia taylori, on the western coast of the United States. Using whole-organism metrics of muscle function and metabolic rate and a ddRADseq genomic approach, we …

Transcription Factor Binding And Discovery Of Novel Gene In The Opportunistic Human Pathogen, Pseudomonas Aeruginosa, Alaina Westee

Symposium of Student Scholars

Pseudomonas aeruginosa (PA) is a gram-negative, ubiquitously-found bacterium that primarily causes nosocomial, or hospital-borne, infections within immunocompromised patients. Therefore, it has been deemed a critical priority pathogen by the World Health Organization (WHO) and the Center for Disease Control (CDC), generating a need for research on its fundamental biology. The Van Dyke laboratory focuses on proteins called transcription factors, which promote or repress gene expression to regulate an organism’s functioning. We are specifically studying the cadmium-responsive transcription factor, CadR, due to the importance of metals in virulence and the lack of information on PA’s response to metal fluctuations. We intend …