Genetics Commons^™

How Dna Reveals God’S Design, Alan L. Gillen

Faculty Publications and Presentations

Codes are big in today’s world: QR codes, barcodes, computer codes, cell phone codes, and more. Specific information is needed to identify, diagnose, and inform. DNA is the code for life: microbes, plants, parasites, animals, and man. DNA Day is April 25 because it was this day in history (April 25, 1953) when James Watson and Francis Crick described DNA as the double helix and the code for life. Although we consider DNA the genetic blueprint for life, it has only been known for 80 years. On February 1, 1944, Oswald Avery, Colin MacLeod, and Maclyn McCarty wrote a revolutionary …

Differential Behavioral Responses In Male And Female Mice Lacking Either Rgs2 Or Rgs4 Proteins After Acute Administration Of Antidepressants And Anxiolytics, Hiroyoshi Matsui, Sarah Seeley, Manoranjan S. D'Souza

ONU Student Research Colloquium

The overall objective of the study was to assess the acute behavioral effects of currently used antidepressants and anxiolytics in male and female mice lacking regulator of G protein-signaling (RGS) proteins 2 and 4 and their wild-type counterparts. RGS 2 and 4 proteins negatively modulate signaling pathways of G protein-coupled receptors (GPCRs), which play an important role in mediating the effects of monoamine neurotransmitters such as dopamine, norepinephrine, and serotonin. These neurotransmitters in turn play an important role in the action of antidepressant and anxiolytic medications. The study was undertaken because no studies till date have systematically assessed the behavioral …

Annotation Of Hypothetical Genes In Lactococcus Lactis Ssp. Il403, Jennifer A. Tangires

Student Scholar Showcase

The human gastrointestinal tract (GIT) harnesses various microbial organisms involved in almost all processes of physiological homeostasis, among these are lactic acid bacteria (LAB). These bacteria, almost all of which belong to the order Lactobacillales, are able to produce lactic acid, and play an important role in food preservation because they produce bacteriocins. Bacteriocins are antimicrobial proteins that are used to fight off related bacteria in their environment that are competing for the same resources. This study focuses on a specific LAB strain, Lactococcus lactis ssp. IL1403 where 21.9% of its predicted genes have not yet been assigned a function. …

Structural Basis Of Dna Crossover Capture By Escherichia Coli Dna Gyrase, Marlène Vayssières, Nils Marechal, Long Yun, Brian Lopez Duran, Naveen Kumar Murugasamy, Jonathan M Fogg, Lynn Zechiedrich, Marc Nadal, Valérie Lamour

Faculty, Staff and Students Publications

DNA supercoiling must be precisely regulated by topoisomerases to prevent DNA entanglement. The interaction of type IIA DNA topoisomerases with two DNA molecules, enabling the transport of one duplex through the transient double-stranded break of the other, remains elusive owing to structures derived solely from single linear duplex DNAs lacking topological constraints. Using cryo–electron microscopy, we solved the structure of Escherichia coli DNA gyrase bound to a negatively supercoiled minicircle DNA. We show how DNA gyrase captures a DNA crossover, revealing both conserved molecular grooves that accommodate the DNA helices. Together with molecular tweezer experiments, the structure shows that the …

Enhancement Of Applied Rice Breeding Programs: Exploring Factors Impacting Genomic Selection Accuracy And Discovery Of A Novel Gene For Grain Shape, Maria G. Montiel

LSU Doctoral Dissertations

Plant breeding is a crucial tool in addressing global challenges such as climate change, population growth, and the need for more resilient crops. Rice serves as a staple food for a significant portion of the global population and has served as a model crop for genetic and genomic studies. Genomic selection (GS) has become valuable tool in plant breeding, allowing breeders to predict breeding lines’ performance based on their genotypes. The training (TS) set is a central component of genomic selection and the optimization of the training set is crucial for efficient implementation of genomic selection. The first two objectives …

"The Relevant History And Medical And Ethical Future Viability Of Xenotransplantation", Morgan Janes

Augustana Center for the Study of Ethics Essay Contest

Xenotransplantation, the transplantation of organs or tissues from one species to another, presents a complex nexus of medical, ethical, and cultural considerations. In this article, we delve into the multifaceted landscape of xenotransplantation, beginning with a thorough examination of its relevant historical trajectory. From early experiments to recent advancements, we chart the evolution of this field, setting the stage for a nuanced discussion. We then confront the central issue: the true medical viability of xenotransplantation and the looming specter of operative risk. By scrutinizing the ethical dilemmas inherent in xenotransplantation through a multicultural lens, we illuminate the diverse perspectives that …

Neurotensin Modulates Ovarian Vascular Permeability Via Adherens Junctions, Andrew Pearson, Ketan Shrestha, Thomas E. Curry, Diane M. Duffy

UK CARES Faculty Publications

Neurotensin (NTS) is a 13-amino acid peptide which is highly expressed in the mammalian ovary in response to the luteinizing hormone surge. Antibody neutralization of NTS in the ovulatory follicle of the cynomolgus macaque impairs ovulation and induces follicular vascular dysregulation, with excessive pooling of red blood cells in the follicle antrum. We hypothesize that NTS is an essential intrafollicular regulator of vascular permeability. In the present study, follicle injection of the NTS receptor antagonist SR142948 also resulted in vascular dysregulation. To measure vascular permeability changes in vitro, primary macaque ovarian microvascular endothelial cells (mOMECs) were enriched from follicle aspirates …

Exploring The Potential Pathogenicity Of A Type 2 Diabetes Mellitus Associated Insr Missense Variant Of Uncertain Significance Through Daf-2 In The Caenorhabditis Elegans Model, Brittany White

Theses

Type 2 diabetes mellitus (T2DM) is hallmarked by insulin resistance, with the INSR gene identified as a key player in this condition in humans. This gene is known to harbor genetic variants with a wide range of clinical significance from pathogenic to variants of uncertain significance (VUS) to benign. This project investigates a VUS associated with T2DM identified through ClinVar. A gene mutational analysis, predictive amino acid substitution analysis, and protein modeling predict INSR c.1628C>T (p. Thr543Met) to be likely pathogenic or damaging. PolyPhen-2 predicts this variant to be probably damaging (HumDiv score of 1.000).

Evolutionary conservation of the …

Documenting The Southern Range Terminus Of The Wood Frog (Lithobates Sylvaticus) In North America, Christian Braswell

Theses

The Wood Frog (Lithobates sylvaticus) holds a remarkable position in North American amphibian biology, with its range extending from the Arctic Circle down to the near sub-tropical southeastern United States. This thesis presents a novel quantitative polymerase chain reaction analysis (qPCR) primer specific to L. sylvaticus and a survey effort regarding the southernmost distribution and detection of this species in Alabama through the application of environmental DNA (eDNA) sampling techniques. By investigating historical data and employing advanced genetic methodologies, this research provides insights into the contemporary status and distribution of the Wood Frog. This research is important to …

Case Of Human Orthohantavirus Infection, Michigan, Usa, 2021, Samuel M Goodfellow, Robert A Nofchissey, Dustin Arsnoe, Chunyan Ye, Seonghyeon Lee, Jieun Park, Won-Keun Kim, Kartik Chandran, Shannon L M Whitmer, John D Klena, Jonathan W Dyal, Trevor Shoemaker, Diana Riner, Mary Grace Stobierski, Kimberly Signs, Steven B Bradfute

Faculty, Staff and Student Publications

Orthohantaviruses cause hantavirus cardiopulmonary syndrome; most cases occur in the southwest region of the United States. We discuss a clinical case of orthohantavirus infection in a 65-year-old woman in Michigan and the phylogeographic link of partial viral fragments from the patient and rodents captured near the presumed site of infection.

Myeloid-Derived Suppressor Cell Mitochondrial Fitness Governs Chemotherapeutic Efficacy In Hematologic Malignancies, Saeed Daneshmandi, Jee Eun Choi, Qi Yan, Cameron R. Macdonald, Manu Pandey, Mounika Goruganthu, Nathan Roberts, Prashant K. Singh, Richard M. Higashi, Andrew N. Lane, Teresa W-M Fan, Jianmin Wang, Philip L. Mccarthy, Elizabeth A. Repasky, Hemn Mohammadpour

Markey Cancer Center Faculty Publications

Myeloid derived suppressor cells (MDSCs) are key regulators of immune responses and correlate with poor outcomes in hematologic malignancies. Here, we identify that MDSC mitochondrial fitness controls the efficacy of doxorubicin chemotherapy in a preclinical lymphoma model. Mechanistically, we show that triggering STAT3 signaling via β2-adrenergic receptor (β2-AR) activation leads to improved MDSC function through metabolic reprogram- ing, marked by sustained mitochondrial respiration and higher ATP generation which reduces AMPK signaling, altering energy metabolism. Furthermore, induced STAT3 signaling in MDSCs enhances glutamine consumption via the TCA cycle. Metabolized glutamine generates itaconate which downregulates mitochondrial reactive oxygen species via regulation of …

Pedigree Analysis Of Congenital Stationary Night Blindness And Surveillance Of Related Problems In The Area Of Depalpur, Okara-Pakistan, Muhammad Abdullah, Muhammad Sajjad Sarwar, Muhammad Rizwan, Muhammad Iqbal Usama, Hamza Zulfiqar, Muhammad Wajid, Saira Ashfaq

Journal of Bioresource Management

Congenital stationary night blindness (CSNB) is described as a set of inherited, non-progressive retinal conditions in which the rod pathway is primarily affected, resulting in difficulty adapting to low-light situations due to impaired photoreceptor transmission. Objectives of study was to identify patients with CSNB and explore their lifestyle and the impact of CSNB on their daily routines in selected areas. Total seven families having CSNB, belonging to five villages (Abadi Haji Ismaeel, Sunari wala, Tibba, Shamdin, and Chorasta Mian Khan) of Depalpur, district Okara, were investigated in March 2023. The CSNB prevalence was calculated as 2.528 % in all selected …

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....

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 …

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., …

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 …

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 …

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 …

A Machine Learning Model Of Perturb-Seq Data For Use In Space Flight Gene Expression Profile Analysis, Liam F. Johnson, James Casaletto, Lauren Sanders, Sylvain Costes

Graduate Industrial Research Symposium

The genetic perturbations caused by spaceflight on biological systems tend to have a system-wide effect which is often difficult to deconvolute it into individual signals with specific points of origin. Single cell multi-omic data can provide a profile of the perturbational effects, but does not necessarily indicate the initial point of interference within the network. The objective of this project is to take advantage of large scale and genome-wide perturbational datasets by using them to train a tuned machine learning model that is capable of predicting the effects of unseen perturbations in new data. Perturb-Seq datasets are large libraries of …

Factors Impacting Genetic Test Result Recall And Adherence To Cancer Risk Management Recommendations Among Patients With Germline Pathogenic Variants, Karishma Prakash Bharwani

USF Tampa Graduate Theses and Dissertations

Only 20-60% of information from medical appointments is estimated to be retained of which about half is recalled accurately; however there remains limited information about recall following disclosure of inherited cancer genetic test results (GTR). We sought to evaluate recall of GTRs and the association of recall with adherence to recommended cancer risk management (CRM). Study participants were consented individuals with a confirmed germline pathogenic or likely pathogenic variant (GPV) in an inherited cancer predisposing genes for which there are CRM guidelines per the National Comprehensive Cancer Network (NCCN). Through information collected through self-reported surveys, adherence to CRM was defined …