Genetics and Genomics Commons^™

Face Validation Of A Spanish Non-Invasive Prenatal Screening Knowledge Scale, Kenya Michelle De Leon

Theses and Dissertations

Non-invasive prenatal screening (NIPS) provides risk assessment for chromosome aneuploidy in pregnancy. Previous studies in the United Kingdom and United States have attempted to measure patient knowledge, decisional conflict, and informed choice in cohorts of English-speaking pregnant patients who elected NIPS (Griffin et al., 2023; Lewis et al., 2016). However, knowledge scales utilized in these studies have not been validated. The current study was conducted in order to assess face validity of a Spanish NIPS knowledge scale that was originally written in English. This scale was developed as part of a larger project to ultimately provide more validated research measures …

Genetic Testing For Autism: The Autistic Adult Perspective, Thomas Scott Dent

Theses and Dissertations

Many professional medical organizations recommend some level of genetic testing as standard of care for those diagnosed with autism spectrum disorder. However, genetic testing related to the diagnosis of autism is seen as controversial by many in the autistic community. While opinions about genetic testing have been well-documented from the perspective of the parents of autistic children, our understanding of the autistic adult perspective remains limited. We implemented a descriptive, web-based survey of autistic adults to assess their awareness of, attitudes towards, and interests in genetic testing for autism (n = 145). Our data demonstrated that half of our participants …

Evaluating Health Awareness In Cancer Genetics Amongst The Black And African American Community In South Carolina, Annika Jaliya Gadson

Theses and Dissertations

Historically minoritized individuals are underrepresented in genomic research which limits the ability to fully understand genetic variation within the population (Sirugo et al., 2019). This creates bias that questions the effectiveness of guidelines for genetic testing, predictive risk values, and medical management. Disparities in cancer genetics may be attributed to historical events that have cultivated mistrust in research and medicine, institutional bias, provider skepticism in patient reporting of medical symptoms, and limited access to genetic testing (Saulsberry et al., 2013). More exploration is needed to better understand how to increase access and awareness of cancer genetic services to Black and …

Comparing Efficiency, Empowerment, And Satisfaction Between Individual And Group Genetic Counseling For Prostate Cancer, Sarah Marie Dickman

Theses and Dissertations

A hereditary cause for prostate cancer can be identified in 5-17% of cases, which can impact treatment and cancer screening recommendations for patients and their families. Increased demand for genetic testing has necessitated consideration of alternative genetic counseling service delivery models to meet needs. Studies have shown that group genetic counseling increases efficiency while maintaining the same patient benefits as individual genetic counseling, but research has mainly focused on patients who were assigned female at birth (AFAB). The purpose of this study was to evaluate the utility of group genetic counseling for prostate cancer by assessing participants’ satisfaction and feelings …

Cell-Typing And Interaction Analysis Of The Immune Compartment Of The Tumor Microenvironment Using High-Resolution Omics Modalities, Courtney Taylor Schiebout

Dartmouth College Ph.D Dissertations

Single-cell RNA-sequencing (scRNA-seq) has provided a new frontier for the investigation of complex tissues. One ideal candidate for the utilization of this method is the tumor microenvironment (TME). The TME is often host to a complex set of cell populations and behaviors that can be highly influential for cancer inhibition or progression. This is especially true of the immune compartment of the TME: the presence of certain types of immune cells in the TME and their expression profiles can significantly affect cancer prognosis in some cases. By providing individual cell-level gene expression data, scRNA-seq can be highly informative for characterizing …

Co-Alteration Network Architecture Of Major Depressive Disorder: A Multi-Modal Neuroimaging Assessment Of Large-Scale Disease Effects, Jodie P. Gray, Jordi Manuello, Aaron F. Alexander-Bloch, Cassandra Leonardo, Crystal Franklin, Sueng Choi, Franco Cauda, Tommaso Costa, John Blangero, David C. Glahn, Peter T. Fox

School of Medicine Publications

Major depressive disorder (MDD) exhibits diverse symptomology and neuroimaging studies report widespread disruption of key brain areas. Numerous theories underpinning the network degeneration hypothesis (NDH) posit that neuropsychiatric diseases selectively target brain areas via meaningful network mechanisms rather than as indistinct disease effects. The present study tests the hypothesis that MDD is a network-based disorder, both structurally and functionally. Coordinate-based meta-analysis and Activation Likelihood Estimation (CBMA-ALE) were used to assess the convergence of findings from 92 previously published studies in depression. An extension of CBMA-ALE was then used to generate a node-and-edge network model representing the co-alteration of brain areas …

Renal-Hepatic-Pancreatic Dysplasia Type 2: Perinatal Lethal Condition Or A Multisystemic Disorder With Variable Expressivity, Kathryn Gunther, Essam M Imseis, Joyce P Samuel, Elizabeth A Hillman, Tiina H Ojala, Paul R Hillman

Faculty, Staff and Student Publications

BACKGROUND: Renal-hepatic-pancreatic dysplasia type 2 (RHPD2) is a rare condition that has been described in the literature disproportionately in perinatal losses. The main features of liver and kidney involvement are well described, with cardiac malformations and cardiomyopathy adding additional variation to the phenotype. Many patients reported are within larger cohorts of congenital anomalies of kidney and urinary tract (CAKUT) or liver failure, and with minimal phenotypic and clinical course data.

METHODS: An independent series of phenotypes and prognosis was aggregated from the literature. In this literature review, we describe an additional patient with RHPD2, provide a clinical update on the …

Be-03 Effects Of Dietary Iron On Taxonomic Composition And Function Of The Zebrafish Gut Microbiome, Megan D. Whisonant, Jeremiah L. Jackson, Sam L. Evans, Stuart Gordon Ph.D.

SC Upstate Research Symposium

A healthy gut microbiota is essential to promote host health and well-being, therefore, effects of dietary components on the gut microbiome are important to investigate as the gastrointestinal tract can be a major route of infection. Iron—an essential component of heme and iron-sulfur proteins—plays a central role in many biological activities, including oxygen transport and cellular respiration.

In particular, the iron homeostasis system is one of the best characterized due to iron's causative relationship with iron-deficiency anemia. Dietary iron supplementation is a commonly used treatment for iron deficiency anemia; however, the known direct impacts of iron on the gut microbiome …

Acoustic Telemetry Provides Insights For Improving Conservation And Management At A Spawning Aggregation Site Of The Endangered Nassau Grouper (Epinephelus Striatus), Richard S. Nemeth, Elizabeth Kadison, Jonathan Jossart, Mahmood Shivji, Bradley Wetherbee, Jordan Matley

Biology Faculty Articles

Nassau grouper (Epinephelus striatus, Serranidae) were one of the most important fishery species in the Caribbean, but are now listed as critically endangered. Population collapse in most places occurred primarily by fishers targeting their spawning aggregation sites, where thousands of fish gathered during full moon periods from December to April. Identifying management options for protecting this vulnerable period is crucial for their survival. In the US Virgin Islands, we tagged 24 Nassau grouper with acoustic transmitters at a fish spawning aggregation (FSA) site called the Grammanik Bank, a 1.5 km2, marine protected area (MPA) closed each year from …

Recombinant Dna Vaccine Design As A Potential Strategy Against Bovine Foot And Mouth Disease Virus (Fmdv), Taylor Haynie

LSU Master's Theses

Foot-and-mouth disease virus (FMDV) is the causative agent for foot-and-mouth disease (FMD) that infects primarily cloven-hoofed animals, the majority of which are domesticated cattle and other important livestock. FMD is highly transmissible and found in all secretions and excretions of infected animals. North America, Europe, and Australia have successfully eradicated the virus with the help of a well-defined fiscal infrastructure and access to successful control measures. Less developed regions, including many Asian and African countries, have maintained an endemic status for decades. African territories are of particular concern because of the indigenous African Buffalo population that serves as an important …

Genome-Wide Crispr Screens Reveal Zatt As A Synthetic Lethal Target Of Top2-Poison Etoposide That Can Act In A Tdp2-Independent Pathway, Jeong-Min Park, Huimin Zhang, Litong Nie, Chao Wang, Min Huang, Mengfan Tang, Yun Xiong, Namsoo Lee, Siting Li, Ling Yin, Traver Hart, Junjie Chen

Faculty, Staff and Student Publications

Etoposide (ETO) is an anticancer drug that targets topoisomerase II (TOP2). It stabilizes a normally transient TOP2-DNA covalent complex (TOP2cc), thus leading to DNA double-strand breaks (DSBs). Tyrosyl-DNA phosphodiesterases two (TDP2) is directly involved in the repair of TOP2cc by removing phosphotyrosyl peptides from 5'-termini of DSBs. Recent studies suggest that additional factors are required for TOP2cc repair, which include the proteasome and the zinc finger protein associated with TDP2 and TOP2, named ZATT. ZATT may alter the conformation of TOP2cc in a way that renders the accessibility of TDP2 for TOP2cc removal. In this study, our genome-wide clustered regularly …

Protocol To Identify The Core Gene Supported By An Essential Gene In E. Coli Bacteria Using A Genome-Wide Suppressor Screen, Isao Masuda, Ya-Ming Hou

Department of Biochemistry and Molecular Biology Faculty Papers

We describe here a genome-wide screening approach to identify the most critical core reaction among a network of many that are supported by an essential gene to establish cell viability. We describe steps for maintenance plasmid construction, knockout cell construction, and phenotype validation. We then detail isolation of suppressors, whole-genome sequencing analysis, and reconstruction of CRISPR mutants. We focus on E. coli trmD, which encodes an essential methyl transferase that synthesizes m1G37 on the 3'-side of the tRNA anticodon. For complete details on the use and execution of this protocol, please refer to Masuda et al. (2022).

Surveillance And Stewardship: Where Infection Prevention And Antimicrobial Stewardship Intersect, Fred C. Tenover, Debra A. Goff

Biology Faculty Publications

Colonization with multidrug-resistant organisms (MDROs) is a risk factor for subsequent infection. Surveillance for MDROs, including methicillin-resistant Staphylococcus aureus, vancomycin-resistant enterococci, extended-spectrum beta-lactamase-producing Enterobacterales, and carbapenemase-producing organisms, is commonly conducted in hospitals to prevent spread of MDROs, in part to reduce the potential for additional infections. Although colonization is a risk factor for infection, data on colonization with various MDROs are often not considered when selecting anti-infective therapy. There are conflicting data on the strength of the positive and negative predictive values of the colonization test results to guide therapeutic strategies. Defining therapeutic strategies for patients with complicated or …

Rare Variant Enrichment Analysis Supports Greb1l As A Contributory Driver Gene In The Etiology Of Mayer-Rokitansky-Küster-Hauser Syndrome, Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Ruizhi Duan, Moez Dawood, Sejal Salvi, Shalini N Jhangiani, Donna M Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A Wise, Jennifer E Dietrich, Ignatia B Van Den Veyver, Antigone S Dimas, Sara Brucker, V Reid Sutton, Richard A Gibbs, Stylianos E Antonarakis, Nan Wu, Zeynep H Coban-Akdemir, Lan Zhu, Jennifer E Posey, James R Lupski

Faculty, Staff and Student Publications

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated several candidate genes, only WNT4 (MIM: 603490) variants have been definitively associated with a subtype of MRKH with hyperandrogenism (MIM: 158330). DNA from 148 clinically diagnosed MRKH probands across 144 unrelated families and available family members from North America, Europe, and South America were exome sequenced (ES) and by family-based genomics analyzed for rare likely deleterious variants. A replication cohort consisting of 442 Han Chinese individuals with MRKH was …

Less Fuel For The Next Fire? Short-Interval Fire Delays Forest Recovery And Interacting Drivers Amplify Effects, Kristin H. Braziunas, Nathan G. Kiel, Monica G. Turner

Aspen Bibliography

As 21st-century climate and disturbance dynamics depart from historic baselines, ecosystem resilience is uncertain. Multiple drivers are changing simultaneously, and interactions among drivers could amplify ecosystem vulnerability to change. Subalpine forests in Greater Yellowstone (Northern Rocky Mountains, USA) were historically resilient to infrequent (100–300 year), severe fire. We sampled paired short-interval (<30-year) and long-interval (>125-year) post-fire plots most recently burned between 1988 and 2018 to address two questions: (1) How do short-interval fire, climate, topography, and distance to unburned live forest edge interact to affect post-fire forest regeneration? (2) How do forest biomass and fuels vary following short-interval versus long-interval severe fires? …

The Effects Of Temperature And Mito-Nuclear Interaction On Male Fertility In Drosophila., Violetta Bakunina

Honors Program: Senior Projects (Public)

The (simw⁵⁰¹);Ore genotype is a strain of Drosophila melanogaster that has impaired mitochondrial function as a result of a disrupted interaction between a mitochondrially-encoded tRNA^Tyr and the nuclear-encoded synthetase that aminoacylates mt-tRNATyr. We hypothesized that disruption of mitochondrial protein synthesis and oxidative phosphorylation (OXPHOS) in this genotype decreases mitochondrial translation and results in the sterility of (simw⁵⁰¹);OreR males at 28^oC. The results of Mitotracker staining showcased the reduced Mean Fluorescence Intensity (MFI), which confirms that sterility has an energetic basis, yet also that mature sperm function is compromised. Cytological dissection of male gonads …

Margalefidinium Polykrikoides Cyst Resuspension In The Lafayette River, A Sub-Tributary Of The Chesapeake Bay, Gabrielle Greaney, Eduardo Perez Vega, Katherine Crider, Dreux Chappell, Kimberly Powell, Richard Hale, Peter Bernhardt, Margaret Mulholland

Undergraduate Research Symposium

Harmful Algal Blooms are a collection of algae in a body of water that can cause serious environmental issues and health problems in both people and aquatic organisms. Dinoflagellates are microscopic, unicellular, and eukaryotic organisms that are well known for forming harmful algal blooms because of eutrophication. Coastal Virginia suffers from HABs in the Chesapeake Bay and its tributaries. A common species of dinoflagellate, known as Margalefidinium polykrikoides exists in the Chesapeake Bay. The purpose of this study is to determine if sediment resuspension produced by wind generated surface gravity waves cause cysts (dinoflagellate resting stages) to be suspended into …

Pen Surface Temperature As A Predictor Of Dailywater Intake And Tympanic Temperature In Steers Finished In Feedlots, Rodrigo A. Arias, Terry L. Mader

Department of Animal Science: Faculty Publications

Adequate estimation of water demand in cattle production feed yards is of high importance, especially due to reduced water availability because of changes in rain precipitation patterns and amounts. The pen surface in feed yards receives and reflects solar radiation, affecting along with other factors the microclimate to which cattle are exposed. This study aimed to describe the relationship between the pen surface temperature with the daily water intake and the tympanic temperature of finishing steers. Climate variables, including solar radiation, air temperature, relative humidity, and wind speed plus pen surface temperature and soil temperature at 10.2 cm depth were …

Evaluation Of Four Thermal Comfort Indices And Their Relationship With Physiological Variables In Feedlot Cattle, Rodrigo A. Arias, Terry L. Mader

Department of Animal Science: Faculty Publications

Climatic data from different years and experiments conducted in Nebraska were used to estimate four comfort thermal indices and to predict the risk of heat stress and its relationship with pen surface temperature (PST). These included the temperature–humidity index (THI), the adjusted THI (THI_adj), the heat load index (HLI), and THI_PST using pen surface temperature instead of air temperature. Respiration rates (RR), tympanic temperatures (TT), and panting scores (PS) were also collected in each year and from each location. During 2007, mean values of soil temperature, PST, outgoing shortwave radiation, and TT were greater than in 2008 …

Regeneration Strategies And Forest Resilience To Changing Fire Regimes: Insights From A Goldilocks Model, Tanjona Ramiadantsoa, Zak Ratajczak, Monica G. Turner

Aspen Bibliography

Disturbances are ubiquitous in ecological systems, and species have evolved a range of strategies to resist or rebound following disturbance. Understanding how the presence and complementarity of regeneration traits will affect community responses to disturbance is increasingly urgent as disturbance regimes shift beyond their historical ranges of variability. We define "disturbance niche" as a species' fitness across a range of disturbance sizes and frequencies that can reflect the fundamental or realized niche, that is, whether the species occurs alone or with other species. We developed a model of intermediate complexity (i.e., a Goldilocks model) to infer the disturbance niche. We …