Genomics Commons^™

Functional Genomics Of Phosphatidylcholine Biosynthesis In Saccharomyces Cerevisiae, Amanda Marie Maliva

Dissertations and Doctoral Documents, University of Nebraska-Lincoln, 2023–

Phosphatidylcholine (PtdCho) is a prominent structural building block of cell and organelle membranes in animal, plant, and fungal cells and some bacteria. Due to its abundant nature in the plasma membrane and intracellular organelle membranes in eukaryotes, the biosynthesis of PtdCho must remain regulated to preserve the correct membrane lipid composition. Dysregulations in PtdCho metabolism can lead to mitochondrial dysfunction, cell death, and the development of diseases including cancer, atherosclerosis, and hepatic diseases. Knowledge of PtdCho has remained limited to the genes involved in its three biosynthetic pathways (Kennedy (K), methylation (M), and acyltransferase (A)), despite the growing realization of …

A Toi Rna Editing In Three Members Of The Microbotryum Violaceum Fungal Complext And Characterization Of Adar Genes Of Microbotryum Superbum., Shikhi Baruri

Electronic Theses and Dissertations

A-to-I RNA editing is a process that occurs post-transcriptionally. Through this process, adenosine (A) is replaced by inosine (I) in RNAs by adenosine deaminase enzymes that act on the single-stranded RNA. These enzymes, also known as ADARs, act on RNA. The translation and splicing mechanisms subsequently interpret inosine as guanosine (G), which effectively alters genetic information. This kind of RNA alteration can cause both nonsynonymous and synonymous changes in codon, which may have an impact on protein function. A group of over 89 basidiomycete fungal species known as the Microbotryum violaceum complex infects a similarly large group of plant host …

Genes That Matter: Survival Modeling In Tcga-Brca With Treatment Interactions., David Pratt

Electronic Theses and Dissertations

High-dimensional genomic data offer both promise and challenges for identifying clinically relevant biomarkers. This study developed a parallelized survival modeling pipeline to identify genes associated with overall survival in breast cancer, with a focus on gene-by-treatment interactions and patient heterogeneity. RNA-Seq data from female patients in the TCGA-BRCA cohort were analyzed. Univariate Cox proportional hazards models were used to screen genes, adjusting for age, race/ethnicity, treatment status, and cancer stage. A LASSO-penalized Cox regression was fit across 2000 random seeds to assess feature stability. Genes were filtered by expression level, statistical significance, and hazard ratios (effect sizes) in either direction, …

Associations Of Variation In Mtdna With Feed Efficiency In Beef Cattle And The Evaluation Of Transcriptomic Changes In Fetal Kidney Due To Hydrallantois, Lauren Elizabeth Seier

Department of Animal Science: Dissertations, Theses, and Student Research

Project 1 focused on the central role that mitochondria play in ATP production, highlighting that variation within the mtDNA may influence feed efficiency. Variation in the mitochondrial genome was uncovered, and associations with feed efficiency in beef cattle were identified. Growth and feed intake phenotypes, as well as low-pass sequencing, were collected on beef steers across two populations. Protein coding variants were identified and used to classify animals into mitochondrial haplotypes. A linear mixed model was employed, which detected a significant association between mitochondrial haplotype and DMI. A significant haplotype with a variant in Complex I was associated with reduced …

The Island Biogeography Of Mangrove-Dwelling Vertebrates: Isolation, Specialisation, And Extinction, Jian Xiong David Tan

Biology ETDs

Mangroves are highly dynamic ecosystems that are widely distributed across the coastlines of the tropics and subtropics. Despite their low plant diversity, mangroves host a disproportionately high number of terrestrial vertebrate taxa. However, mangrove specialists — taxa that only occur in mangrove habitats — exhibit a global distribution that is incongruous with the broader background distribution patterns of mangrove-associated fauna, exhibiting higher diversity in Australia and Southeast Asia. This dissertation therefore aims to assess how the diversity and distribution of mangrove specialist fauna may have been shaped by the historical biogeography of mangroves, and the effects of mangrove specialisation on …

Update To: Advancing Butterfly Systematics Through Genomic Analysis, Jing Zhang, Qian Cong, Jinhui Shen, Leina Song, Nick Grishin

The Taxonomic Report of the International Lepidoptera Survey

In this update, we propose (type species or type localities in parentheses): Lochris Grishin, nom. nov. (Lasaia oileus Godman, 1903; Lepidoptera: Riodinidae) as a new substitute name for Locris Grishin, 2025 preoccupied by Locris Stål, 1866 (Cercopis rubra Fabricius, 1794; Hemiptera: Cercopidae), 5 new species, and 5 new subspecies: Emesis (Mandania) mandarina Grishin, sp. n. (Brazil: Santa Catarina) and Emesis (Mandania) mandela Grishin, sp. n. (Venezuela, Carabobo) in Riodinidae Grote, 1895 (1827); others in Hesperiidae Latreille, 1809: Telegonus (Rhabdoides) flavifimbro Grishin, sp. n. (Colombia), Urbanus (Urbanoides) dolus Grishin, sp. n. (Colombia: …

Identification Of Serum Exosome Proteins In Systemic Sclerosis With Interstitial Lung Disease By Aptamer Proteomics, Sonsoles Piera-Velazquez, Simon T. Dillon, Xuesong Gu, Towia A. Libermann, Sergio A. Jimenez

Jefferson Institute of Molecular Medicine Papers and Presentations

OBJECTIVE: A major unmet need for Systemic Sclerosis (SSc) clinical management is the absence of well validated biomarkers for early diagnosis of SSc-associated interstitial lung disease (SSc-ILD). The objective of this study was to identify proteins contained within serum exosomes that may serve as potential biomarkers to differentiate patients with Diffuse SSc without SSc-ILD from patients with Diffuse SSc with SSc-ILD employing aptamer-based proteomics.

METHODS: Serum exosomes were isolated from two cohorts of patients. The first cohort included 15 patients with Diffuse SSc without SSc-ILD and 14 patients with Diffuse SSc with SSc-ILD and the second cohort included 12 patients …

Alpha-Synuclein Null Mutation Exacerbates The Phenotype Of A Model Of Menkes Disease In Female Mice, Meganne Casey, Dan Zou, Renee Reijo Pera Phd, Tiffany Hensley-Mcbain, Deborah E. Cabin

Touro College of Osteopathic Medicine (Great Falls) Publications and Research

Human SNCA, which encodes a-synuclein protein (SNCA), was the first gene linked to familial Parkinson's disease (PD). Since the discovery of the genetic link of SNCA to Parkinson's nearly three decades ago, many studies have investigated the normal function of SNCA protein. However, understanding of the normal function of SNCA is complicated by the lack of a reliable mammalian model of PD; indeed, mice with homozygous null mutations in the Snca gene live a normal lifespan and have only subtle synaptic deficits. Here, we report the first genetic modifier (a sensitized mutation) of a murine Snca null …

Utilizing Pharmacogenomics To Improve Students' Self-Perception On The Interprofessional Competencies Of Roles And Responsibilities, And Teams And Teamwork, Amanda Brown, Moom R. Roosan, Robert Goldsteen, Scott D. Ochs, Reza Taheri

Pharmacy Faculty Articles and Research

Introduction

Pharmacogenomics (PGx) is an emerging discipline with the potential to revolutionize personalized medicine, but its successful implementation requires interprofessional collaboration. To address this need, a virtual interprofessional education (IPE) session was designed for student pharmacists and medical students to engage in a case-based learning experience.

Objective

The primary objective was to develop and implement an IPE activity focused on a patient case requiring PGx-guided dual antiplatelet therapy and to assess students' perceptions of two Interprofessional Education Collaborative (IPEC) Version 3 Core Competencies. A secondary objective was to identify key lessons from the session.

Methods

Pharmacist and physician faculty collaboratively …

Cazyme Gene Cluster Diversity In Human Gut Microbiome, Yi Xing

Department of Food Science and Technology: Dissertations, Theses, and Student Research

In gut microbiome research, carbohydrate-active enzyme gene clusters (CGCs) have emerged as key functional units for understanding microbial glycan degradation. Unlike taxonomic or broad pathway annotations, CGCs offer gene-cluster-level resolution and capture substrate-specific microbial functions. However, their diversity and distribution in relation to host metabolic phenotypes, such as obesity, remain poorly characterized. This study tests the hypothesis that the composition and abundance of fiber-targeting CGCs vary between obese and healthy human gut microbiomes, reflecting distinct microbial carbohydrate utilization strategies. To examine this, we constructed a high-quality reference CGC dataset comprising 94,019 clusters from the Unified Human Gastrointestinal Genome and profiled …

Metabolic And Physiological Regulation In C. Elegans: Insights Into Sperm Activation And Peroxisome-Mediated Longevity, Yash Flora

LSU Doctoral Dissertations

Organelle dynamics lie at the heart of cellular signaling and metabolic regulation, orchestrating physiological processes such as reproduction and aging across the lifespan. In this dissertation, I investigate how organelle-based signaling coordinates sperm activation and modulates organismal aging in the nematode Caenorhabditis elegans. I identify SPIN-4, a previously uncharacterized Spinster family transporter, as a key regulator of spermiogenesis. SPIN-4 is strongly expressed in developing sperm, localizes to the plasma membrane, and promotes sperm activation by facilitating the export of sphingosine-1-phosphate (S1P). Loss of spin-4 results in defective pseudopod formation, reduced motility, and compromised fertility, phenotypes that can be rescued …

Using Lrr Standard Deviation As A Genotype Quality Control Measure And Its Downstream Effect On Cnv Calling., Adam Dunne

ORBioM (Open Research BioSciences Meeting)

Background:

Log R Ratio (LRR) is a genotype intensity measurement returned alongside routine genotype results and used to detect structural variation in the genome known as copy number variation (CNVs). Although LRR standard deviation (SD) is commonly applied as a quality control measure in CNV studies, limited research has explored its effect on genotype quality and the potential impact on CNV calling.

Methods:

A total of 720,152 genotypes were available on 716,234 cattle. Among these were 1,044 cattle that had duplicate genotype samples where one sample was considered gold standard (LRR SD < 0.3, Call Rate ≥ 0.95). Genotype concordance was calculated for all duplicates. PennCNV was used to call CNVs and concordance among CNV calls per duplicate animal was determined using the Jaccard index.

Results:

Across all 720,152 cattle samples, the mean …

Analytical Approaches For Identification Of Essential Genomes Of Plasmodium Knowlesi And Babesia Divergens, Sida Ye

Graduate Doctoral Dissertations

Apicomplexa constitute a large phylum of single-celled, obligate intracellular protozoan parasites. Notably, Plasmodium spp. and Babesia spp. are apicomplexan parasites that infect red blood cells. Plasmodium species are the causative agent of malaria and are transmitted by Anopheles mosquitoes, affecting large human populations, whereas Babesia spp., transmitted through the bite of Ixodes ticks cause babesiosis.

In this dissertation, we investigate the essential genome of these parasites using high-throughput transposon mutagenesis. Identifying the essential genome is key to finding new drug targets and understanding resistance mechanisms, a crucial pursuit given the rising resistance to frontline antimalarial drugs and the challenges …

The Role Of G6pd Variants And 3d Genomic Structure In The Development Of Pulmonary Hypertension, Christina M. Signoretti Ph.D.

NYMC Student Theses and Dissertations

Pulmonary hypertension is an under-recognized global health epidemic which is estimated to affect 1% of the population. It is associated with sustained mean pulmonary artery pressure greater than 20 mmHg, pulmonary artery remodeling, smooth muscle and endothelial cell proliferation and subsequent increased right ventricle hypertrophy due to increased afterload. Glucose-6-phosphate dehydrogenase (G6PD) is one of the key enzymes in the pentose phosphate pathway and has been previously linked to the development of pulmonary hypertension. G6PD deficiency is the most common human enzymopathy which affects approximately 400 million people worldwide and is a result of agricultural and epidemiological evolution in different …

Network Analysis Of Antimicrobial Resistance In Staphylococcus Aureus: Characterization Of Hub Genes And Their Functional Implications, Md Imran Hasan, Davida Smyth, Jeong Yang, Ashley Teufel

Masters Theses (Archived)

Antimicrobial resistance is a major cause of morbidity and mortality in patients with S. aureus infections. In this study, we analyzed genes, molecular mechanisms, and pathways driving drug resistance in S. aureus using network analysis. Using whole-genome sequencing (WGS) data and systems biology approaches, we identified 229 AMR-associated genes and constructed a protein-protein interaction network among these genes. Through network topology and functional enrichment analyses, we not only confirmed their association with resistance, but also highlighted the central roles of these genes in resistance pathways, such as efflux, target replacement, and target protection, which are directly linked to multiple drug …

A Phylogenomic Investigation Of The Historical Biogeography Of Livebearers (Cyprinodontiformes: Poeciliidae), Sheila Rodríguez Machado

LSU Doctoral Dissertations

The Neotropics contain several biodiversity hotspots and harbor the highest diversity of freshwater fishes globally. Yet, recognizing the patterns and processes driving this richness remains a challenge. Similarly, all groups and subregions have not received the same attention, especially in the genomics era. Addressing these knowledge gaps will help us to better understand the region’s evolutionary and biogeographic complexity. The goal of this dissertation is to examine phylogenetic and biogeographic patterns of Neotropical freshwater fishes, with emphasis on the Greater Antilles, across multiple taxonomic and geographic scales. To achieve this goal, I generated a genomic dataset of hundreds of ultraconserved …

Diagnostic And Clinical Utility Of Oncoscan Microarray And Ngs-Based Sequencing In Pediatric Solid Tumors: Children’S Mercy Hospital’S Experience, Aravindh Nagarajan, Lisa Lansdon, Midhat Farooqi, Lei Zhang, Elena Repnikova

Research Days

This papers attempts to evaluate the diagnostic and clinical utility of microarray-based OS+ in detecting clinically relevant genetic alterations in FFPE solid tumor samples and to compare the yield of somatic mutation detection by WGS/WES in pediatric solid tumors at Children’s Mercy Hospital - Kansas City.

Early Hematopoietic Differentiation Of An Inducible Pluripotent Stem Cell Model Of Infant Lymphoblastic Leukemia, Meagan Vacek, Jacqelyn Nemechek, Irina Pushel, Bradley Thornton, Priyanka Kumar, Jay L. Vivian, John M. Perry

Research Days

This abstract describes our work regarding the differentiation of human inducible pluripotent stem cells into hematopoietic stem and progenitor cells as the groundwork for the development of a genomics driven inducible pluripotent stem cell model of KMT2A rearranged infant acute lymphoblastic leukemia.

Genome Annotation Of Stargaze, Madison R. Murray

Honors Theses

Bacteriophages are viruses which solely infect bacteria. They are one of the most abundant and diverse biological entities, yet there is a limited amount of information on these viruses, including their gene functions. Several previously unknown phages have been discovered including Stargaze, whose bacterial host is Mycobacterium Smegmatis. Characterization of phage genes and their functions deepen our understanding of phages and potentially contribute to the broader biomedical effort associated with phages ability to combat bacterial infections. Stargaze is a G5 subcluster phage and it only has one other related phage in its cluster, that phage is from Madagascar. Using a …

Genomic Structure Among Populations Of A Regionally Rare Perennial Plant Indicates The Need For Reevaluation Of Management Units, Cheyenne Moore, Angela J. Mcdonnell, Scott Schuette, Christopher T. Martine

Faculty Journal Articles

Conservation of rare species often relies on the delineation of management units and genomic tools can now be applied for this purpose. However, this is not as common on a local scale, where populations are often small and fragmented, despite the utility of informing conservation and management practice at the regional level. We use a genotyping by sequencing (GBS) approach to assess the perennial riparian plant species Baptisia australis (Fabaceae) in Pennsylvania, where the taxon is at the edge of its natural distribution and considered threatened. In this system, we investigate whether sampled subpopulations exhibit genetic structure. We find that …

Uncovering The Evolutionary Origins Of Neo-Sex Chromosomes In The Insect Family Membracidae, Mary Kumah

2025 Spring Honors Capstone Projects - Archive

This research explores the evolution of the neo-XX/XY sex chromosome system of Amblyophallus exaltatus, a treehopper insect in the family Membracidae. Neo-XX/XY sex chromosome systems can evolve from an XX/X0 sex chromosome system via fusion events between the X chromosome and an autosome. Although cytological work has indicated the presence of a neo-XX/XY system within A.exaltatus, the chromosomal identity of the fused autosome and the molecular drivers behind this chromosomal fusion remain poorly understood. By performing a coverage analysis with whole genome sequence data, the parts of the A.exaltatus genome that fused with the X chromosome will be better …

Translation Of The Carcinogenic Dna Breakage-Repair Inhibition Mechanism For Hexavalent Chromium To Its Key Targets: Lung Epithelial Cells, Lung Tissue And Impacts On The Genome., Idoia Meaza Isusi

Electronic Theses and Dissertations

Lung cancer is the leading cause of cancer death worldwide. Hexavalent chromium [Cr(VI)] is a human lung carcinogen with widespread occupational and environmental exposure. Despite the known health risks, how Cr(VI) causes lung cancer remains unclear. This dissertation investigates the mechanisms of Cr(VI)-induced carcinogenesis. Cr(VI) causes DNA damage, specifically DNA double strand breaks, and inhibits homologous recombination repair, a high-fidelity repair pathway. Unrepaired DNA double strand breaks or those repaired through error-prone pathways, progress to chromosomal damage, and chromosome instability. The latter is a common characteristic of Cr(VI)-exposed cells, and a hallmark of lung cancer. Although the mechanism of Cr(VI)-induced …

Integrating Genomic And Phenomic Breeding Tools For Wheat Stem Sawfly Resistance In Hard Winter Wheat, Sydney E. Graham

Dissertations and Doctoral Documents, University of Nebraska-Lincoln, 2023–

The wheat stem sawfly (WSS; Cephus cinctus) is an insect pest that affects wheat (Triticum aestivum) in the Northern Great Plains. This pest causes stem cutting that makes the plants susceptible to lodging and results in up to 30% yield loss. The primary management strategy for producers is utilizing host plant resistance, for which the main trait is stem solidness. This trait increases the pith thickness and provides resistance to the WSS by increasing larval mortality and reducing stem cutting. While stem solidness is largely controlled by a known major gene (SSt1), the phenotypic expression is also …

Developing A Small Molecule To Inhibit Hsf1 Expression In Cancer And Evaluating Natural Genetic Variation In Small Molecule Toxicity., Michaela Kendal Foley

Theses and Dissertations

Each year cancer affects nearly 20 million people worldwide and genetic differences across populations can impact cancer onset and progression. Specifically, tumors with high levels of HSF1, the master regulator of the cytoprotective heat shock response (HSR), are correlated with poor patient outcomes in multiple cancers such as prostate, breast, and melanoma. Subsequently, the development of pharmacological inhibitors of HSF1 represents a promising strategy for anticancer therapeutics. Using a luciferase-based transcriptional reporter, two small molecule libraries were screened for inhibitors of HSF1 expression in human embryonic kidney cells, yielding ten compounds that decrease HSF1 expression. To identify if cancer lines …

Genetic Influence Of Allelic Variation On The Phenotypic Variability Of Cognitive Outcomes In Individuals With Williams Syndrome., Marinie P. Joseph

Electronic Theses and Dissertations

Williams syndrome (WS) is caused by a rare microdeletion of 25 – 27 genes on chromosome 7q11.23, characterized by a distinctive cognitive profile with considerable phenotypic heterogeneity. However, the genetic factors underlying this phenotypic variability remain unclear. I explored two genetic mechanisms—parent-of-origin (PoO) effects and genome-wide polygenic variation, as measured by polygenic scores (PGSs)—to elucidate possible influences on cognitive variability in WS. The first study examined PoO effects on cognitive abilities in two overlapping samples of children with WS (N = 211, N = 251). PoO refers to which parental homolog of chromosome 7 contains the WS deletion. Despite …

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 …

A Stakeholder-Informed Conceptual Framework For Evaluating Genomics In Precision Oncology, Julie A. Wiedower

All Dissertations

This dissertation explores the value of genomic testing in precision oncology with an emphasis on how US payers conceptualize and prioritize elements of value. This research aims to address gaps in understanding payer perspectives and proposes a stakeholder-informed framework for evaluating genomic testing in oncology. To achieve this aim, the presented research investigates payer perspectives, value-based cancer care priorities, and the conceptual understanding of the value of a genetic diagnosis to establish a framework for value with the payer audience in mind. Chapter 1 outlines relevant background information relating to the genomic revolution and challenges in translating genomic testing technologies …

The Genomic Landscape And Prognostic Impact Of Kras, Stk11, And Smarca4 Mutations And Co-Mutations On Survival Outcomes In Non-Small Cell Lung Cancer, Peter Manolakos

All Dissertations

Non-small lung cancer (NSCLC) accounts for 85% of lung cancer cases, and Kirsten rat sarcoma viral oncogene homolog (KRAS), Serine/Threonine Kinase 11 (STK11), and SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 (SMARCA4) mutations and co-mutations have been increasingly recognized for their potential prognostic significance. However, clear knowledge gaps remain regarding which treatments should be selected for patients who present clinically with KRAS/STK11 or KRAS/SMARCA4 co-mutations, as outlined in Chapter 1. Despite significant clinical development advancements in immunotherapy and targeted therapy, a deeper understanding of the influence of these genomic …

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 …

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, …