Genetics Commons^™

Evaluating Cancer Rates, Cancer Types, And Variant Hotspots Between Different Races And Ethnicities In Individuals With Li-Fraumeni Syndrome, Hillary Esplen

Dissertations and Theses (Open Access)

Li Fraumeni Syndrome (LFS) is a cancer predisposition syndrome that increases the risk for numerous cancer types in both children and adults. In the general population, incidence rates for various cancer types differ among races and ethnicities. Although a few germline TP53 pathogenic/likely pathogenic (P/LP) variants in those with LFS have been studied and associated with specific populations, such as the South and Southeast Brazil founder variant, p.Arg337His, there still lacks research on the variable expressivity of cancers within the LFS population based on specific variant, race and/or ethnicity. This study aims to describe the specific TP53 germline variants, the …

Elucidating The Multi-Omics Of Early-Onset Colorectal Cancer, Jumanah Alshenaifi

Dissertations and Theses (Open Access)

The incidence and mortality rates of sporadic early-onset colorectal cancer have increased in recent decades, but there is no clear etiological basis for this trend. EOCRC is commonly defined as colon and rectal cancers diagnosed before the age of 50 years. The rising incidence of EOCRC has made it the second most common cancer and the third leading cause of cancer death in this age group. The rising incidence of EOCRC is also documented internationally in more than 20 countries across different continents. Clinically, EOCRC has a distinct, more aggressive clinical profile than LOCRC. While approximately 15% of EOCRC cases …

The Influence Of Scientific, Genetic, And Health Literacy On Carrier Screening Decision-Making, Brenna D. Albracht

Dissertations and Theses (Open Access)

For those wishing to assess their reproductive risks and make informed decisions in their reproductive planning, carrier screening for autosomal recessive and X-linked conditions, as well as cell-free DNA (cfDNA) screening for aneuploidy, are recommended during pregnancy. Despite similarities in purpose, sample requirements, insurance coverage, and safety, a lower percentage of individuals elect carrier screening than cfDNA screening, suggesting there may be a disconnect in what patients perceive as valuable information for their pregnancy. Previous studies have attempted to explain the factors associated with carrier screening uptake or decline; however, no models have yet accounted for a patient’s literacy level …

"Magic Computer In The Sky" - Participant Perspectives On Control And The Genetic Counseling Admissions Match, Jessica Clark

Dissertations and Theses (Open Access)

Since the 2018 admissions cycle, genetic counseling graduate programs in North America have utilized the Genetic Counseling Admissions Match (GCAM), a Match algorithm to place applicants. While a study prior to implementation found that most students were uninterested in a Match due to concerns of control, there has been no investigation into matched applicants’ experiences since its inception. A mixed-methods study explored the experiences and perceptions of control of genetic counselors and genetic counseling (GC) students who entered a program following the GCAM. An anonymous survey documenting GCAM experience and a validated measure for locus of control (LOC) was disseminated …

Evaluating Triage To Genetic Counseling Using An Online Reproductive Genetics Module, Grace Ra

Dissertations and Theses (Open Access)

The American College of Obstetricians and Gynecologists recommends genetic screening for all pregnant women. As clinical recommendations broaden and demand for prenatal screening increases, obstetric practitioners report time constraints and lack of genetics knowledge as challenges to providing sufficient pretest education. These challenges in offering routine screening are further compounded by the inequities in access to genetic counseling and testing. Thus, alternative education and service delivery models have emerged to meet the demands for prenatal genetics education and help mitigate challenges surrounding access. At UTHealth Houston, an online triage and education module, the Prenatal Genetics Education Program (PGEP), was created …

Gene Expression And Transfection Of C15orf57 In Chicken Show Clear Correlation To The Function Of The Ap2 Complex, E. Ashton Magdich

Graduate Theses and Dissertations

Discovering the functions of functionally unknown genes has made a huge impact on biological understanding including poultry species. In this thesis, C15orf57 (or C5H15orf57, chicken chromosome 5 human ortholog H15 open reading frame 57), was studied to understand its genetic characteristics and function. Chapter one is literature reviews on annotation of genes, the gene information on C15orf57, the importance of characterizing unknown genes in the genome, and what is known now about C15orf57. The Chapter 2 is for the structural characterization of C15orf57, gene expression of C15orf57 in various organ tissues using the qPCR method and effect of overexpression of …

Investigation Into Mycorrhizae Associated With Native Venus' Flytrap Root Tissue, Anna Carnaggio

Electronic Theses and Dissertations

Dionaea muscipula, a plant commonly known as the Venus' flytrap, is found native to the southeast corner of North Carolina and the northeast corner of South Carolina. Several populations of native Venus' flytraps are known to exist in the nutrient-poor peat bog conditions in and around Lewis Ocean Bay Heritage Preserve (LOBHP) in Northeastern South Carolina. Anthropogenic pressures in Horry County, specifically surrounding LOBHP, have resulted in a loss of habitat for several native and endangered species. As a result, conservation efforts are focused on relocating native Venus' flytraps into adjacent habitats to ensure survival. This is only a temporary …

Crispr-Cas9 Integration Of Salmon Elovl2 In Zebrafish Enhances Lc-Pufa Biosynthesis And Growth Across Diets, Waleed Sami J. Al-Bachry

Graduate Theses and Dissertations

Fish are a rich source of EPA and DHA, which are well-known long-chain polyunsaturated fatty acids (LC-PUFAs). The sustainable production of these essential fatty acids poses significant challenges, mainly due to our dependence on marine fish and certain nuts. CRISPR-Cas system was utilized to insert the elongation of long-chain fatty acids-like2 (Elovl2) gene from Salmo salar into Danio rerio. Elovl2 was introduced at 10-15-minute post-fertilization, and successful integration confirmed by PCR genotyping, sequencing and expression of EGFP. Approximately 67% of injected embryos successfully exhibited EGFP and sequence results verified the gene integration of Salmo salar Elovl2 at the first start …

Gonadal Absence Of Ceh-22: Degradation Of Ceh-22 In The Gonads Of Caenorhabditis Elegans, Andreya C. White

Undergraduate Theses

The reproductive system of hermaphrodite Caenorhabditis elegans (C. elegans) comprises two gonadal arms, each with a terminating distal tip cell (DTC), connected by a common uterus. The DTC has two functions: leader and niche. In C. elegans, ceh-22/nkx2,5 has been found to work together with Wnt signaling to determine the fates of the DTC (Lam et al., 2006). This is an indication that ceh-22 aids in the specification of DTCs. Our research aims to determine the specific function of ceh-22 in the gonad of both male and hermaphrodite C. elegans. This will be accomplished by observing …

The Role And Expression Of Pros-1 In The C. Elegans Gonad, Brandon W. Thomas, Mary B. Kroetz, Roberta Challener

Undergraduate Theses

The nematode, formally known as Caenorhabditis elegans, has served as an excellent model organism in understanding fundamental biological processes, including those governed by conserved genes like pros-1. pros-1 is partially responsible for the formation of tubular structures within the organism. Glial cells and excretory canals are both examples of tubular structures governed by pros-1. pros-1 orchestrates the embryonic development of these cell types by modulating cell proliferation and differentiation, thus ensuring proper morphogenesis and organogenesis. Its regulatory influence likely extends beyond embryogenesis, potentially affecting reproductive processes as well. Furthermore, the evolutionary conservation of pros-1 underscores its significance …

Investigating Genetic Regulators Of Crystal Cell Development In Drosophila Melanogaster, Andrea Feria, Nyla Walbrook, Anisa Turaeva, Rebecca Spokony

Publications and Research

Crystal cells, a subset of Drosophila melanogaster hemocytes, are important for melanization, a crucial immune response. While the genetic regulation of crystal cell develop remains incompletely understood, this study investigates the functions of five candidate genes: ACXB, ACXA, Gp210, CG4390, and Cyp4s3; identidied through previous genome-wide association studies. Using the Gal4/UAS system along with RNA interference (RNAi), we exclusively knocked down each gene in third instar larvae and quantified crystal cell populations following heat shock-induced melanization. Our results imply that the knockdown of ACXB and ACXA significantly increased crystal cell counts in both sexes, suggesting these genes either act as …

Args & Chronic Disease: How Antibiotic Resistance Genes Impact The Progression Of Type Ii Diabetes, Paige Imperato

Thinking Matters Symposium

Antibiotics are typically offered to patients with no warning of long-term consequences, though increasing evidence suggests this may not be entirely true. When antibiotics enter the body, they kill both good and bad bacterial populations in the gut - collectively known as the human microbiome. Repeated use of these drugs encourages mutations in this bacterial population [2]. This leads to the creation of antibiotic-resistant genes (ARGs) in antibiotic resistant bacteria (ARB). The causal relationship between antibiotic use and bacterial resistance is well established. However, recent research suggests a newly discovered relationship between the presence of specific ARGs in the microbiome …

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 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 …

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 …

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. …

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 …

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 …