Molecular Genetics Commons^™

A Study Of The Snd1/Prmt5 Axis In Liver Cancer By Genetic Mouse Models, Tanner Wright, Tanner Wright

Dissertations and Theses (Open Access)

Arginine methylation is an essential post-translational modification (PTM) in cells. Protein arginine methyltransferase 5 (PRMT5) is the primary enzyme that catalyzes symmetric dimethyl arginine (SDMA) and requires methylosome protein 50 (MEP50) for stability and enzymatic activity which are necessary for life and development. Effector proteins bind different types of PTM’s to facilitate signaling. Staphylococcal nuclease Tudor domain containing 1 (SND1) is an effector that specifically binds SDMA via its single C-terminal Tudor domain. Both SND1 and PRMT5 have been implicated in hepatocellular carcinoma (HCC). SND1 has been confirmed as a driver of HCC using genetically engineered mouse models (GEMMs), though, …

Brown Anole (Anolis Sagrei) Hoxa5: Insights Into The Divergence Of Hoxa5 Gene Expression And Regulation Across Evolutionarily Divergent Gnathostome Vertebrates, Jennifer A. Lange, Amber L. Rittgers, Adam Davis

Georgia Journal of Science

Hox genes are evolutionarily conserved developmental regulatory genes that function, in part, to pattern the anterior-posterior (AP) axis of organs and organ systems during animal embryonic development. Hoxa5, specifically, is shown to be expressed in the spinal cord, somites, or transient compartments giving rise to the vertebrae and ribs, developing gut, lungs, and limbs of the mouse (Mus musculus). The cis-regulatory elements (CREs), or short DNA sequences, that direct Hoxa5 expression in these embryonic domains have been mapped and functionally tested in the mouse as well. Similar Hoxa5 expression patterns have been observed in chicken ( …

Human Ipsc Derived Cardiomyocyte Model Reveals The Transcriptomic Bases Of Covid-19 Associated Myocardial Injury, Kashish Kumar, Satish Kumar, Erica De Leon, Joanne E. Curran, Sarah Williams-Blangero, John Blangero

Research Symposium

Background: Multi-organ complications have been the hallmark of severe COVID-19; cardiac injuries were reported in 20% to 30% of hospitalized COVID-19 patients, although the disease etiology remains poorly understood. This study leveraged genome-wide RNA-sequence data generated using induced pluripotent stem cell (iPSC) differentiated cardiomyocytes (CMs) and in vitro modeling of SARS-CoV-2 infection in CMs, to understand the molecular mechanisms of COVID-19 myocardial injuries for novel diagnostic and therapeutic development.

Methods: Raw RNA-sequence data sets, GSE165242 and GSE150392 were aligned to human genome assembly GRCh38 and gene expressions were quantified. Differentially expressed (DE) genes between experimental groups were identified using moderated …

Antp Transcriptional Activity Is Modulated By The Formation Of The Trimeric Antp-Tbp Complexes With Tfiieβ, Exd And Bip2, Norma C. Hernández Bautista, Gustavo Jiménez Mejía, Claudia Altamirano Torres, Diana Reséndez Pérez

Research Symposium

Homeoproteins are transcriptional factors that bind to DNA through a highly conserved binding domain known as the homeodomain (HD) which recognizes short regions rich in AT to control the development of the body appendages of organisms. However, their structural and recognition similarities make it difficult to explain how homeoproteins are capable of carrying out their function. Previous results have shown that Antp homeoprotein can establish dimeric interactions with TBP, TFIIEβ, Exd, BIP2 and more recently through BiFC-FRET we confirmed that Antp and TBP can form trimeric complexes with TFIIEβ/Exd/BIP2. Therefore, is important to show how these trimeric complexes modulate Antp …

Tata-Box Binding Protein Interacts With Antp, Scr, Ubx And Abdb Through Their N-Terminal Domains, Rubén Montalvo Méndez, Gustavo Jiménez Mejía, Diana Reséndez Pérez

Research Symposium

Background: Hox proteins are transcriptional factors (TFs) that define segment identity during embryonic development regulating specific target genes. These TFs interact with cofactors for DNA specificity and other TFs to regulate gene expression, which include basal transcriptional machinery members like BIP2, Med19, TFIIEβ, M1BP and TBP. Since TBP glutamine homopeptide (PolyQ) act as an interaction domain involved transcriptional regulation, we analyzed if TBP interact with Antp, Scr, Ubx and AbdB through its PolyQ region.

Methods: We used Bimolecular Fluorescent Complementation (BiFC) to determine TBP interaction with Antp, Scr, Ubx and AbdB as well as the implication of their homeodomain (HD) …

Modeling Nonsegmented Negative-Strand Rna Virus (Nnsv) Transcription With Ejective Polymerase Collisions And Biased Diffusion, Felipe-Andres Piedra

Research Symposium

Background: The textbook model of NNSV transcription predicts a gene expression gradient. However, multiple studies show non-gradient gene expression patterns or data inconsistent with a simple gradient. Regarding the latter, several studies show a dramatic decrease in gene expression over the last two genes of the respiratory syncytial virus (RSV) genome (a highly studied NNSV). The textbook model cannot explain these phenomena.

Methods: Computational models of RSV and vesicular stomatitis virus (VSV – another highly studied NNSV) transcription were written in the Python programming language using the Scientific Python Development Environment. The model code is freely available on GitHub: …

Challenges In Genetic Counseling In Hereditary Cancer Syndromes In A Mexican Oncologic Center, Diana Cristina Perez-Ibave, Diana Cristina De Lourdes Perez Ibave, María Fernanda Noriega-Iriondo, Omar Alejandro Zayas-Villanueva, Fernando Alcorta-Nuñez, Juan Francisco González-Guerrero, Adelina Alcorta-Garza, David Hernandez-Barajas, Oscar Vidal-Gutierrez, Carlos Horacio Burciaga-Flores

Research Symposium

Background: In Mexico, hereditary cancer is underdiagnosed, medical geneticists give genetic counseling, but the access is limited due to the socio-economic characteristics of the population. The CUCC (Centro Universitario Contra el Cáncer) Early Cancer Detection Clinic (CECIL) created a model in which patients without cancer are enrolled in a prevention cancer screening program.

Methods: From 2016 to 2021, 3014 patients were enrolled in the prevention program. Patients were evaluated with a hereditary cancer risk survey before a consultation. Those with at least one familial hereditary risk positive answer were assessed in a consultation. We also included patients with cancer diagnoses …

The Use Of Prognostic Markers To Predict Disease Progression And Clinical Outcome In Monoclonal Gammopathy Of Undetermined Significance, Smouldering Multiple Myeloma And Multiple Myeloma., Róisín C. Mcmonagle

International Undergraduate Journal of Health Sciences

Multiple Myeloma (MM) is an incurable plasma cell malignancy with a complex and incompletely understood molecular pathogenesis. Monoclonal Gammopathy of Undetermined Significance (MGUS) and Smouldering Multiple Myeloma (SMM) precede MM, with variable risks and rates of disease progression. The continuing high relapse and death rate in MM cases has prompted research into more accurate prognostic markers to predict progression from MGUS and SMM to MM, as well as identify MM cases with aggressive disease, in order to begin early, targeted and effective therapeutic intervention. Many studies have focused on utilising current markers more effectively, including M-protein, serum-free light chain ratio, …

Transcriptional Pausing Factor M1bp Regulates Cellular Homeostasis By Suppressing Autophagy And Apoptosis In Drosophila Eye, Anuradha Venkatakrishnan Chimata, Hannah Darnell, Akanksha Raj, Madhuri Kango-Singh

Biology Faculty Publications

During organogenesis cellular homeostasis plays a crucial role in patterning and growth. The role of promoter proximal pausing of RNA polymerase II, which regulates transcription of several developmental genes by GAGA factor or Motif 1 Binding Protein (M1BP), has not been fully understood in cellular homeostasis. Earlier, we reported that M1BP, a functional homolog of ZKSCAN3, regulates wingless (wg) and caspase-dependent cell death (apoptosis) in the Drosophila eye. Further, blocking apoptosis does not fully rescue the M1BP^RNAi phenotype of reduced eye. Therefore, we looked for other possible mechanism(s). In a forward genetic screen, members of the Jun-amino-terminal-(NH2)-Kinase (JNK) pathway …

Characterization Of Pathological Tau Mutants, Charles J. Mcdonald

Dissertations, Theses, and Capstone Projects

Tau is a protein expressed exclusively in glia and neurons in the central nervous system and implicated in several neurogenerative diseases called “tauopathies”. Among all the tauopathies, one third is characterized by the presence of genetic mutations leading to the synthesis of tau proteins with single amino acid substitutions at specific locations and affecting protein function. While most of the initial studies have emphasize the functional role of tau as modulator of the axonal cytoskeleton, it has recently been well accepted that tau is also an intrinsically disordered protein that tends to form membraneless organelles called coacervates, due to a …

Isolation Of Arabidopsis Thaliana Plants Homozygous For An Insertional Inactivation Mutation Within Atprp4., Sydney Raitz, Timothy D. Trott

Research in Biology

The AtPRP4 gene in Arabidopsis thaliana has been shown to function in several specific parts of the plant’s cell wall. It is shown to be expressed in the seeds, radicles, roots, leaves, inflorescences, and embryos of Arabidopsis thaliana. These patterns have suggested unique functions for ATPRP4 in determining cell-type-specific wall structure during the development of a plant as well as contributing to defense reactions against physical damage to the plant and pathogen infection within the plant. In this study, a simple DNA prep was performed on the true leaves of Arabidopsis thaliana. Subsequent PCR reactions were performed using …

Gene Expression Effects On Productivity And Stress Tolerance In Polyclonal Plantings Of Populus Deltoides, Macy Gosselaar

Theses and Dissertations

Polyclonal plantings of Populus deltoides are expected to display increased site resource use, productivity, and tolerance to stress through plasticity changes leading to niche differentiation (i.e changes to crown/canopy structures). In the present study, P. deltoides Clones S7C8, 110412, and polyclonal plots were tested for differentially expressed genes and enriched biological pathways between planting schemes. Transcriptomic analysis of leaves revealed upregulation of an active growth gene and gene family members that play important roles in plant stress and stress tolerance in polyclonal plantings. A gene associated with oxidative stress was upregulated in polyclonal plantings across all treatments. Secondary metabolic pathways …

Multispecies Genomic Sex Identification Using Ddx3 Gene Polymorphisms, Jessica Felts

All Graduate Theses and Dissertations, Spring 1920 to Summer 2023

PCR sex determination assays must be reliable and cost effective due to the frequent and integral use of these assays in biological research and the animal production industry. Thus, the design of proof of a primer pair with a built-in control is warranted to not only bypass the extra cost of a multiplex reaction, but also to prevent anomalous results that have been documented with other primer pairs.

The objective of this study was to design primer pairs with built in PCR amplification control to identify sex in Equus caballus (domestic horse), Homo sapiens (humans), Macaca mulatta (rhesus macaque), and …

The Role Of Adenovirus Serotype 5 E4 11k In The Relocalization Of The Cellular P Body Proteins, Kasey A. Karen, La`Quita Randolph, Kevin Neubrecht, Heather Vincent

Georgia Journal of Science

Human adenoviruses are a useful tool to understand basic cellular biology in addition to viral infections. Historically, cellular splicing was first discovered in adenovirus, but other cellular processes, such as double-strand break repair and aggresome formation, have been further elucidated through adenoviral infection. The adenovirus protein E4 11k has been shown to disrupt cytoplasmic processing bodies (p bodies), which are not well-understood but are involved in mRNA metabolism. Several p body proteins were found to be reorganized in the cytoplasm with adenovirus serotype 5 (Ad5) able to cause the colocalization of these p body proteins with aggresomes. The p body …

N-Acetyltransferase 9 Ameliorates Aβ42-Mediated Neurodegeneration In The Drosophila Eye, Prajakta Deshpande, Anuradha Venkatakrishnan Chimata, Emily E. Snider, Aditi Singh, Madhuri Kango-Singh, Amit Singh

Biology Faculty Publications

Alzheimer’s disease (AD), a progressive neurodegenerative disorder, manifests as accumulation of amyloid-beta-42 (Aβ42) plaques and intracellular accumulation of neurofibrillary tangles (NFTs) that results in microtubule destabilization. Targeted expression of human Aβ42 (GMR > Aβ42) in developing Drosophila eye retinal neurons results in Aβ42 plaque(s) and mimics AD-like extensive neurodegeneration. However, there remains a gap in our understanding of the underlying mechanism(s) for Aβ42-mediated neurodegeneration. To address this gap in information, we conducted a forward genetic screen, and identified N-acetyltransferase 9 (Mnat9) as a genetic modifier of GMR > Aβ42 neurodegenerative phenotype. Mnat9 is known to stabilize microtubules by inhibiting c-Jun-N- …

Characterization Of Etoxazole Resistance In Tetranychus Urticae Populations Collected From Commercial Greenhouses & Fields In Ontario, Jeremy Spenler

Electronic Thesis and Dissertation Repository

In this investigation, etoxazole resistance was monitored in two spotted spider mite (TSSM) populations collected from commercial greenhouses in Ontario. The frequency of an etoxazole resistant, recessive target-site mutation, I1017F, in chitin synthase I (CHS1) was tracked within populations over the course of the study. Cytochrome P450 (P450) activity emerged as a possible alternative mechanism to resist etoxazole exposure in one population.

Using genetic crossing between highly resistant mite populations and a susceptible lab population, filial (F1) hybrid populations were created. The recessive I1017F target-site mutation was abolished in F1 hybrids highly susceptible to etoxazole, while elevated P450 …

Recovery From Social Isolation In Drosophila: The Role Of Dopamine And The Autism-Related Gene Nlg3., Ryley T. Yost

Electronic Thesis and Dissertation Repository

Within a group, individuals establish their preferred distance from each other, or social space, a form of social behaviour. The resulting distance depends on the exchange of social cues from others that needs to be perceived and integrated within the organism’s neural circuitry. In humans, social spacing can be impaired in neuropsychiatric disorders such as autism and schizophrenia. When organisms are subject to social isolation, profound changes in social behaviour are observed in a variety of species from insects to mammals, including social space. However, the genetic and molecular mechanisms modulating a behavioural response to isolation and possible recovery remain …

Exploration Of The Immune Landscape Of Ebv-Associated Gastric Cancers, Mikhail Salnikov

Electronic Thesis and Dissertation Repository

Epstein–Barr virus (EBV) is a gammaherpesvirus associated with 9% of all gastric cancers (GCs). EBV-associated GCs (EBVaGCs) are pathologically and clinically distinct entities from EBV-negative GCs (EBVnGCs), with EBVaGCs exhibiting differential molecular pathology and patient prognosis. The purpose of this thesis is to investigate the tumor microenvironment (TME) of EBVaGCs, which has not been explored in-depth. We hypothesize that EBVaGCs and EBVnGCs are also distinct in terms of the molecular immune landscape. We employed over 400 stomach adenocarcinoma (STAD) samples from The Cancer Genome Atlas (TCGA), as well as a single cell dataset, for the construction of a web suite …

Aggression And Mao-A Gene, Sacheta Sudhendra Kulkarni, Shilpa Sam S, Kishor Manohar Rao, Abhijith Devaraju

International Journal of Health and Allied Sciences

No abstract provided.

Ethical Issues And Standards Of Responsible Research Conduct And Monitoring In An Adventist Institution Of Higher Learning - The Babcock Experience, Kayode O. Ogunwenmo, Godswill N. Anyasor, Grace O. Tayo

Adventist Human-Subject Researchers Association

Ethical issues and standards of responsible research conduct involving human participants are important considerations in any institution of higher learning and in particular Adventist institutions. Research conduct and ethics are reviewed and approved before they begin by the Babcock University Health Research Ethics Committee (BUHREC)