Genetics and Genomics Commons^™

Eurasian Aspen (Populus Tremula L.): Central Europe's Keystone Species 'Hiding In Plain Sight', Antonín Kusbach, Jan Šebesta, Robert Hruban, Pavel Peška, Paul C. Rogers

Aspen Bibliography

Knowledge of Eurasian aspen’s (Populus tremula L.) ecological and growth characteristics is of high importance to plant and wildlife community ecology, and noncommercial forest ecosystem services. This research assessed these characteristics, identified aspen’s habitat optimum, and examined causality of its current scarce distribution in central Europe. We analyzed a robust database of field measurements (4,656,130 stands) for forest management planning over 78,000 km² of the Czech territory. Our analysis we used GIS techniques, with basic and multivariate statistics such as general linear models, ordination, and classification. Results describe a species of broad ecological amplitude that has heretofore attracted …

The Effects Of Genetic And Modifiable Risk Factors On Brain Regions Vulnerable To Ageing And Disease, Jordi Manuello, Joosung Min, Paul Mccarthy, Fidel Alfaro-Almagro, Soojin Lee, Stephen Smith, Lloyd T. Elliott, Anderson M. Winkler, Gwenaëlle Douaud

School of Medicine Publications

We have previously identified a network of higher-order brain regions particularly vulnerable to the ageing process, schizophrenia and Alzheimer’s disease. However, it remains unknown what the genetic influences on this fragile brain network are, and whether it can be altered by the most common modifiable risk factors for dementia. Here, in ~40,000 UK Biobank participants, we first show significant genome-wide associations between this brain network and seven genetic clusters implicated in cardiovascular deaths, schizophrenia, Alzheimer’s and Parkinson’s disease, and with the two antigens of the XG blood group located in the pseudoautosomal region of the sex chromosomes. We further reveal …

Genetic Impact Of External Targhee Sires At The U.S. Sheep Experiment Station: A Case Study Of Introgression, Carrie S. Wilson, J. Bret Taylor, Ronald M. Lewis, David R. Notter

Department of Animal Science: Faculty Publications

Sheep breeders requested that the U.S. Sheep Experiment Station (USSES) to participate in national genetic evaluation through the National Sheep Improvement Program (NSIP). The reasons included the need for (1) a comparison of the productivity of industry and United States Department of Agriculture (USDA) lines, (2) transparency of USDA flocks, (3) genetic ties for NSIP by sampling of industry flocks, and (4) development of premium genetic lines for public release. In response, USSES began to incorporate external sires from NSIP participating flocks into the USSES Targhee flock. Our objective, based on a pedigree analysis, was to test if introgression of …

In Silico Analysis Of C-Type Lectins As Co-Infection Receptors Of Dengue And Chikungunya Viruses In Aedes Aegypti, Munawir Sazali, R. C. Hidayat Soesilohadi, Nastiti Wijayanti, Tri Wibawa, Arif Nur Muhammad Ansori

Makara Journal of Science

Aedes aegypti is a primer vector of dengue virus (DENV) and chikungunya virus (CHIKV). The susceptibility of mosquitoes to DENV and CHIKV depends on their recognition receptor of pathogens. C-type lectins (CTLs) are an important mediator of virus infection in A. aegypti. This study aims to identify potential receptors and determine the binding affinity between ligand–receptor interaction, CTLs and virus envelopes (DENV-1, 2, 3, and 4 and CHIKV) interaction based on in silico analysis. Sample sequences were obtained from GenBank (NCBI), and 10 CTLs were acquired from VectorBase. Homology modeling based on a minimum standard of 20% was processed …

Advancing Primary Ciliary Dyskinesia Diagnosis Through High-Speed Video Microscopy Analysis, Wilfredo De Jesús-Rojas, Zachary J Demetriou, José Muñiz-Hernández, Gabriel Rosario-Ortiz, Frances M Quiñones, Marcos J Ramos-Benitez, Ricardo A Mosquera

Faculty, Staff and Student Publications

Primary ciliary dyskinesia (PCD) is an inherited disorder that impairs motile cilia, essential for respiratory health, with a reported prevalence of 1 in 16,309 within Hispanic populations. Despite 70% of Puerto Rican patients having the RSPH4A [c.921+3_921+6del (intronic)] founder mutation, the characterization of the ciliary dysfunction remains unidentified due to the unavailability of advanced diagnostic modalities like High-Speed Video Microscopy Analysis (HSVA). Our study implemented HSVA for the first time on the island as a tool to better diagnose and characterize the RSPH4A [c.921+3_921+6del (intronic)] founder mutation in Puerto Rican patients. By applying HSVA, we analyzed the ciliary beat frequency …

Exploring The Role Of Calcineurin In Filamentation Across Inducing Conditions In The Fungal Pathogen Candida Albicans, Patricia Harte-Maxwell, Jill R. Blankenship

UNO Student Research and Creative Activity Fair

Candida albicans is an opportunistic human pathogenic fungus affecting millions of people globally; high mortality rates are possible in systemic infection. Filamentation or a filamentous growth pattern is a primary virulence mechanism of C. albicans underlying other virulent behaviour....

Solving The Hiv Enigma: Investigating Mutant Long-Term Non-Progressor Vpr Strands, Megan Knight, Bradford Berges

Library/Life Sciences Undergraduate Poster Competition 2024

Different variants of HIV:

➢ Rapid Progressor: aggressive symptoms, quick progression into AIDs

➢ Wild-Type: regular symptoms, regular progression into AIDs

➢ Long-Term Non-Progressor: little-

Leucine Lock: A Diagnostic Tool To Revolutionize Rapid Antigen Testing, Kaitlyn Robinson, Jonathon Hill, Benjamin Johnson, Matt Goff

Library/Life Sciences Undergraduate Poster Competition 2024

• The current field of rapid testing uses antigen tests that are ELISA-based.

• ELISA tests are expensive and can only provide results for high-antigen loads. (asymptomatic patients and/or low-antigen samples generate inaccurate results).1

• We aim to provide a cheaper rapid test that produces both quantitative and qualitative results.

Fishing For Neurocircuitry: Identifying Multi-Sensory Integrating Neurons In The Optic Tectum Of Zebrafish, Suehelen A. Garcia, Adeline Hamilton, Karianne Jex, Erika C. Marks, Jordan T. Yorgason, Tracianne B. Neilsen, Arminda Suli

Library/Life Sciences Undergraduate Poster Competition 2024

The superior colliculus (SC) is a mammalian midbrain structure involved in multimodal sensory integration and is implicated to have a role in neurodevelopmental disorders. Although the presence of multisensory integrating neurons (MINs) in the SC has been well documented by electrophysiology techniques, little is known about their morphological or molecular characterization. To identify and study MINs, we utilized SC’s non-mammalian homologous structure–the optic tectum (OT)–in the genetically tractable model organism zebrafish. In this process, we generated transgenic lines that allowed for fluorescent detection of neuronal activity by expressing the genetically engineered calcium indicators: cytoRGECO and H2B-jRGECO1a, respectively in mechanosensory hair …

Chasing The Rainbow: Systematics Of New Guinean Rainbow Skinks, Taylor Probst, Alison Whiting

Library/Life Sciences Undergraduate Poster Competition 2024

Oral Presentation Honorable Mention

• Carlia are known as the “Rainbow skinks” due to their iridescent scales (see Figure 1).

• Carlia are found across Oceania (see figure 2), however only relationships among the Australian species are known.

• New Guinean Carlia are divided into three species groups based on size, distribution, and morphology.

• Species within the Carlia fusca complex have primarily been delineated based on regional color patterns (see Figure 4).

• New Guinea is known for extreme lizard diversity, specifically within skinks.

• Research has shown that many lizard groups underwent a rapid diversification within New Guinea, …

The Genome Of Huauzontle (Chenopodium Berlandieri), A North American Relative Of Quinoa, Ashley K. Marcheschi, Jeff Maughan, Peter J. Maughan, David E. Jarvis, Kate E. Jaggi, Eric N. Jellen

Library/Life Sciences Undergraduate Poster Competition 2024

Quinoa (Chenopodium quinoa) is a popular Andean seed crop that has a reduced ability to thrive outside of its native range. A related member of the Allotetraploid Goosefoot Complex (ATGC), pitseed goosefoot (Chenopodium berlandieri), is a minimally invasive North American weed that is able to survive in climates and environments that are restrictive to quinoa growth. C. berlandieri has been independently domesticated at least three times, including in Mesoamerica as the immature panicle vegetable ‘huauzontle.’ To assess the capacity of C. berlandieri as a genetic resource for improvement of C. quinoa, we sequenced the whole genome of a huauzontle accession …

Examining Cetp Gene Associated With Ad-Related Diseases Of The Hispanic Population In The Rio Grande Valley., Erika Guajardo, Luis Aguillon, Daniela Ollervides-Charles, Kesheng Wang, Gladys Maestre, J. Garza, Chun Xu

Research Symposium

Background: There are currently about 6 million people in the United States that suffer from Alzheimer’s Disease (AD) and Alzheimer’s Disease related dementia (ADRD). It is a progressive disease beginning with mild memory loss and possibly leading to loss of the ability to carry on a conversation and respond to the environment. Over time, these conditions can cause many different health issues that decrease the quality of life. In addition, Hispanic people are twice as likely to develop AD or AD related dementia than non-Hispanic White people. In our study, we are investigating a known gene, CETP, that directly corresponds …

Evaluation Of Pediatric Genetics Clinics’ Workflows, Efficiencies, & Genetic Counselor Job Satisfaction, Ashlyn M. Keziah

USF Tampa Graduate Theses and Dissertations

The organizational structures and workflows of pediatric/general genetics clinics exhibit significant variability across institutions. However, there is a notable lack of studies exploring which structural components within pediatric clinics contribute to increased patient volumes, while concurrently upholding genetic counselor work satisfaction and mitigating burnout risks. To address this gap, this multiple case study delves into the operational dynamics of several pediatric genetics clinics located throughout the state of Florida. We employed surveys and interviews to identify shared patterns and distinctions in clinic workflows and structures, subsequently evaluating efficiency and genetic counselor job satisfaction/burnout at each site. This study includes survey …

Linking Shared Decision Making To Outcomes In Simulated Prenatal Genetic Counseling Sessions, Raquel C. Chavarria

USF Tampa Graduate Theses and Dissertations

Shared decision-making (SDM), defined as the collaborative process between patient and healthcare provider to arrive at a values-based clinical decision, may be valuable in genetic counseling (GC) given that patients are often faced with various options. Four published studies have measured or made conclusions about the use of SDM skills in GC settings, but only one study evaluated relationships between third-party observations of SDM in recorded GC sessions and patient-reported outcomes (i.e., anxiety and decisional conflict) and found no correlations between these measures. The purpose of this study was to evaluate relationships between SDM and measures of patient-reported experience (i.e., …

Analyzing The Relationship Between Preeclamptic Severity And Placental Methylation, Mackenzie C. Maggio

USF Tampa Graduate Theses and Dissertations

Preeclampsia (PE) is a life-threatening hypertensive disorder in pregnancy (HDP) characterized by high blood pressure and proteinuria after 20 weeks of gestation. PE poses significant risks to both maternal and child health. An incomplete etiopathogenesis, diverse disease heterogeneity, and limited intervention and detection strategies further exacerbate and perpetuate PE as a major public health concern. By assessing symptom severity of placental tissues from PE pregnancies and analyzing the DNA methylation differences, this thesis aimed to identify epigenetic variations contributing to disease heterogeneity. Using the publicly available dataset GSE 98224, differentially methylated region (DMR) analysis on placental samples (n=48) revealed increasing …

Metabolic Syndrome Traits Exhibit Genotype-By-Environment Interaction In Relation To Socioeconomic Status In The Mexican American Family Heart Study, Vincent P. Diego, Eron G. Manusov, Xi Mao, Marcio A. Almeida, Juan M. Peralta, Joanne E. Curran, Michael C. Mahaney, Harald H. H. Goring, John Blangero, Sarah Williams-Blangero

School of Medicine Publications

Background: Socioeconomic Status (SES) is a potent environmental determinant of health. To our knowledge, no assessment of genotype-environment interaction has been conducted to consider the joint effects of socioeconomic status and genetics on risk for metabolic disease. We analyzed data from the Mexican American Family Studies (MAFS) to evaluate the hypothesis that genotype-by-environment interaction (GxE) is an essential determinant of variation in risk factors for metabolic syndrome (MS).

Methods: We employed a maximum likelihood estimation of the decomposition of variance components to detect GxE interaction. After excluding individuals with diabetes and individuals on medication for diabetes, hypertension, or dyslipidemia, we …

Recent Progress On Gene-Deleted Liveattenuated African Swine Fever Virus Vaccines, Hiep L.X. Vu, David Scott Mcvey

Department of Animal Science: Faculty Publications

African Swine Fever (ASF) is a highly lethal viral disease in swine, with mortality rates approaching 100%. The disease has spread to many swine-producing countries, leading to significant economic losses and adversely impacting global food security. Extensive efforts have been directed toward developing effective ASF vaccines. Among the vaccinology approaches tested to date, liveattenuated virus (LAV) vaccines produced by rational deleting virulence genes from virulent African Swine Fever Virus (ASFV) strains have demonstrated promising safety and efficacy in experimental and field conditions. Many gene-deleted LAV vaccine candidates have been generated in recent years. The virulence genes targeted for deletion from …

Recent Progress On Gene-Deleted Liveattenuated African Swine Fever Virus Vaccines, Hiep Vu, David Scott Mcvey

Department of Animal Science: Faculty Publications

African Swine Fever (ASF) is a highly lethal viral disease in swine, with mortality rates approaching 100%. The disease has spread to many swine-producing countries, leading to significant economic losses and adversely impacting global food security. Extensive efforts have been directed toward developing effective ASF vaccines. Among the vaccinology approaches tested to date, liveattenuated virus (LAV) vaccines produced by rational deleting virulence genes from virulent African Swine Fever Virus (ASFV) strains have demonstrated promising safety and efficacy in experimental and field conditions. Many gene-deleted LAV vaccine candidates have been generated in recent years. The virulence genes targeted for deletion from …

A Differentially Methylated Region Analysis Between Three Disease States Of Major Depressive Disorder In Primarily African-American Cohorts, Lanie Katelynn Mullins

USF Tampa Graduate Theses and Dissertations

Major depressive disorder (MDD) is a common and debilitating disorder that affects millions of people worldwide. MDD is a multifactorial disease with no established mechanism currently able to explain all facets of the disease or its etiology. Feedback loop mechanisms have been posited to explain the interactions of psychological and physical components of the disease etiology. Epigenetics, specifically DNA-methylation analyses, can shed light on the interaction between the within-person environment resulting from MDD symptomology, the persistence of the disease, and factors influencing remission. Here, a differentially methylated region analysis was conducted using samples derived from whole blood to interrogate the …

Grb2 Stabilizes Rad51 At Reversed Replication Forks Suppressing Genomic Instability And Innate Immunity Against Cancer, Zu Ye, Shengfeng Xu, Yin Shi, Xueqian Cheng, Yuan Zhang, Sunetra Roy, Sarita Namjoshi, Michael A Longo, Todd M Link, Katharina Schlacher, Guang Peng, Dihua Yu, Bin Wang, John A Tainer, Zamal Ahmed

Faculty, Staff and Student Publications

Growth factor receptor-bound protein 2 (GRB2) is a cytoplasmic adapter for tyrosine kinase signaling and a nuclear adapter for homology-directed-DNA repair. Here we find nuclear GRB2 protects DNA at stalled replication forks from MRE11-mediated degradation in the BRCA2 replication fork protection axis. Mechanistically, GRB2 binds and inhibits RAD51 ATPase activity to stabilize RAD51 on stalled replication forks. In GRB2-depleted cells, PARP inhibitor (PARPi) treatment releases DNA fragments from stalled forks into the cytoplasm that activate the cGAS-STING pathway to trigger pro-inflammatory cytokine production. Moreover in a syngeneic mouse metastatic ovarian cancer model, GRB2 depletion in the context of PARPi treatment …