Genetics and Genomics Commons^™

Comprehensive Analysis Of Chromosome 14q32 Deletions In Chronic Lymphocytic Leukemia, Rachel A. Harris

Theses & Dissertations

Chronic lymphocytic leukemia (CLL) is a genetically heterogeneous disease characterized in part by a combination of conventional cytogenetic and fluorescence in situ hybridization (FISH) analyses. Previous studies have investigated the occurrence of many cytogenetic abnormalities in CLL. However, few have focused on the frequency and variation of deletions within chromosome 14 (14q32), including genes associated with the IGH gene region and the possible related prognostic implications. We performed a comprehensive analysis and examined the frequency of abnormalities, specifically, deletions of the 14q32 region, categorized the size variation of these deletions using microarray, and assessed the effect on time-to-first-treatment (TTFT) and …

Genomic And Transcriptomic Alterations In Metabolic Regulators And Implications For Anti-Tumoral Immune Response, Ryan J. King

Theses & Dissertations

Metabolic and immune alterations are ubiquitous hallmarks of cancer that are established during the foundational mutations and are further selected upon to generate highly aggressive tumors. Recent evidence suggests that cancer cells employ an altered metabolism to induce immune evasion. To further discover the relationship between metabolism and immunity in cancer, this thesis aimed to discover potential candidates of interest by first examining the mucin family for differences, as they exert a wide range of activities in cancer, including altered metabolism and immune alterations. Unique differences lead to further profiling in pancreatic and esophageal cancer. In pancreatic cancer, CD73 was …

Sars-Cov-2 (Covid-19) Structural And Evolutionary Dynamicome Insights Into Functional Evolution And Human Genomics, Ruchir Gupta, Jacob Charron, Cynthia L. Stenger, Jared Painter

University Faculty Publications and Creative Works

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has challenged the speed at which laboratories can discover the viral composition and study health outcomes. The small ~30-kb ssRNA genome of coronaviruses makes them adept at cross-species spread while enabling a robust understanding of all of the proteins the viral genome encodes. We have employed protein modeling, molecular dynamics simulations, evolutionary mapping, and 3D printing to gain a full proteome- and dynamicome-level understanding of SARS-CoV-2. We established the Viral Integrated Structural Evolution Dynamic Database (VIStEDD at RRID:SCR_018793) to facilitate future discoveries and educational use. Here, we highlight the …

The P-Glycoprotein Repertoire Of The Equine Parasitic Nematode Parascaris Univalens, Alexander P. Gerhard, Jürgen Krücken, Emanuel Heitlinger, I. Jana I. Janssen, Marta Basiaga, Sławomir Kornaś, Céline Beier, Martin K. Nielsen, Richard E. Davis, Jianbin Wang, Georg Von Samson-Himmelstjerna

Maxwell H. Gluck Equine Research Center Faculty Publications

P-glycoproteins (Pgp) have been proposed as contributors to the widespread macrocyclic lactone (ML) resistance in several nematode species including a major pathogen of foals, Parascaris univalens. Using new and available RNA-seq data, ten different genomic loci encoding Pgps were identified and characterized by transcriptome-guided RT-PCRs and Sanger sequencing. Phylogenetic analysis revealed an ascarid-specific Pgp lineage, Pgp-18, as well as two paralogues of Pgp-11 and Pgp-16. Comparative gene expression analyses in P. univalens and Caenorhabditis elegans show that the intestine is the major site of expression but individual gene expression patterns were not conserved between the two nematodes. In P. …

Genetic Diversity: The Hub Of Plant Breeding, Foster Kangben

International Programs

Agriculture the world over is faced with the threat of food, fiber, and nutrition insecurity especially in the wake of climate change. However, employing two approaches to plant breeding, the molecular and phenotypic methods, can make use of genetic diversity in crop species in order to help surmount these challenges.

Structure And Evolution Of Lizard Immunity Genes, Trent Santonastaso

LSU New Orleans Theses and Dissertations

One of the most important gene families to play a role in adaptive immunity is the major histocompatibility complex (MHC). MHC class II loci are considered to be the most variable loci in the vertebrate genome, and studies have shown that this variability can be maintained through complex co-evolutionary dynamics between host and parasite. Despite the rich body of research into the MHC, there is comparatively little understanding of its genomic architecture in reptiles. Similarly, loci associated with innate immunity have received little attention in reptiles compared to other vertebrates. In the first chapter, we investigated the structure and organization …

Exploiting Somatic Pirnas In Bemisia Tabaci Enables Novel Gene Silencing Through Rna Feeding, Mosharrof Mondal, Judith K. Brown, Alex Flynt

Faculty Publications

© This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/). RNAi promises to reshape pest control by being nontoxic, biodegradable, and species specific. However, due to the plastic nature of RNAi, there is a significant variability in responses. In this study, we investigate small RNA pathways and processing of ingested RNAi trigger molecules in a hemipteran plant pest, the whitefly Bemisia tabaci. Unlike Drosophila, where the paradigm for insect RNAi technology was established, whitefly has abundant somatic piwi-associated RNAs (piRNAs). Long regarded as germline restricted, piRNAs are common in the …

Linking Crude Oil And Dispersant Effects To Gene Expression Of Marine Sponge Cinachyrella, Yvain Desplat

All HCAS Student Capstones, Theses, and Dissertations

Because of their filter-feeding lifestyle, sponges (Phylum Porifera) have shown to be bio-accumulators of heavy metals, and bio-monitors for polychlorobiphenyl (PCB) contaminants. Furthermore, marine sponges have been shown to be regulators of reef ecosystems by fulfilling many ecological functions. However, very little is known about their behavior in the face of environmental changes. Consequently, our lab has developed the reef sponge Cinachyrella spp. as novel experimental model. We have designed an experiment to study the effects of WAF (Water Accommodated Fraction), Corexit 9500 dispersant, and CE-WAF (Chemically Enhanced Water Accommodated Fraction)mixtures, in an effort to mimic the conditions of the …

A Shark Conservationists Toolbox: Current Dna Methods And Techniques Aiding In The Conservation Of Sharks, Arianna N. Nixon

All HCAS Student Capstones, Theses, and Dissertations

Elasmobranchs are important members of their community. Many sharks are important apex predators that help maintain the health of their ecosystem. However, shark populations are globally declining. This is partially due to the fact that sharks are highly targeted for their fins, meat, liver oil, teeth, and skin. However, they are also killed from anthropogenic effects such as habitat destruction and pollution. Most shark species have life history characteristics that also make them more vulnerable to overfishing. Sharks are also difficult to study due to their elusive nature and identification issues. That is why molecular tools are increasingly becoming important …

Epigenetic Targeting Of Mcl-1 Is Synthetically Lethal With Bcl-Xl/Bcl-2 Inhibition In Model Systems Of Glioblastoma, Enyuan Shang, Trang T. T. Nguyen, Chang Shu, Mike-Andrew Westhoff, Georg Karpel-Massler, Markus D. Siegelin

Publications and Research

Apoptotic resistance remains a hallmark of glioblastoma (GBM), the most common primary brain tumor in adults, and a better understanding of this process may result in more efficient treatments. By utilizing chromatin immunoprecipitation with next-generation sequencing (CHIP-seq), we discovered that GBMs harbor a super enhancer around the Mcl-1 locus, a gene that has been known to confer cell death resistance in GBM.We utilized THZ1, a known super-enhancer blocker, and BH3-mimetics, including ABT263, WEHI-539, and ABT199. Combined treatment with BH3-mimetics and THZ1 led to synergistic growth reduction in GBM models. Reduction in cellular viability was accompanied by significant cell death induction …

Next-Generation Sequencing In Equine Genomics, Jessica L. Petersen, Stephen J. Coleman

Department of Animal Science: Faculty Publications

• Next-generation sequencing of both DNA and RNA represents a second revolution in equine genetics following publication of the equine genome sequence.

• Technological advancements have resulted in a wide selection of next-generation sequencing platforms capable of completing small targeted experiments or resequencing complete genomes.

• DNA and RNA sequencing have applications in clinical and research environments.

• Standards for the validation and sharing of next-generation sequencing data are critical for the widespread application of the technology and applications discussed herein.

• As researchers and clinicians develop a better understanding of how genetic variation and phenotypic variation are linked, next-generation sequencing could help pave the …

Brainstem Ischemic Syndrome In Juvenile Nf2., John W Henson, Tara Benkers, Connor Mccormick

Articles, Abstracts, and Reports

Objective: A new case of brainstem ischemic necrosis in a young woman with de novo neurofibromatosis type 2 (NF2) is reported, and given notable similarities to 7 prior cases of brainstem stroke in the literature, features defining a possible syndrome were sought.

Methods: Case review including detailed clinical assessment, neuroimaging analysis, genetic testing, and brain biopsy, followed by a multicase analysis.

Results: Brainstem ischemia in juvenile NF2 typically occurs in teenagers without previously known NF2 as an acute, monophasic presentation with restricted diffusion in the midbrain or pons following a recent hypoperfusion event, normal vascular imaging, obvious intracranial imaging features …

Genes Involved In Nitrogen Assimilation In Ustilago Maydis., Sunita Khanal

Electronic Theses and Dissertations

U. maydis can utilize nitrate as a source of nitrogen from its environment, a process requiring a nitrate transporter to bring the nitrate inside the cell. This is followed by a two-step reduction of nitrate to ammonium. At first, nitrate reductase reduces nitrate into nitrite; in the second reaction, nitrite is reduced to ammonium by nitrite reductase. The goal of the study was to identify the nitrate transporter and nitrite reductase genes in U. maydis and characterize them based on their role in mating and virulence. The genes um03848 and um03849 were identified bioinformatically as encoding, respectively, the nitrite reductase …

Comparative Secretomics And Functional Analysis Of Effectors Utilized By The Microbotryum Genus Of Anther-Smut Fungal Pathogens, And Their Role In Host-Specificity., William Christopher Beckerson

Electronic Theses and Dissertations

Understanding how pathogens evolve in response to changes in their host is paramount to combating the spread of emergent strains of disease. This is particularly true for plant pathogens that cause billions of dollars of damages to crops globally, every year. Understanding the molecular interactions between pathogens and their hosts therefore sheds light on the coevolutionary arms race that can result in host-specificity and host-shifts in plant pathogens. This research approaches the question of how fungal pathogens interact with their plant hosts utilizing both unique and shared arsenals of secreted proteins (SPs) during infection, and addresses the question of whether …

Longitudinal Clonal Lineage Dynamics And Functional Characterization Of Pancreatic Cancer Chemo-Resistance And Metastasization, Chieh-Yuan Li

Dissertations and Theses (Open Access)

In recent years, technological advancements, such as next-generation sequencing and single-cell interrogation techniques, have enriched our understanding in tumor heterogeneity. By dissecting tumors and characterizing clonal lineages, we are better understanding the intricacies of tumor evolution. Tumors are represented by the presence of and dynamic interactions amongst clonal lineages. Each lineage and each cell contributes to tumor dynamics through intrinsic and extrinsic mechanisms, and the variable responses of clones to perturbations in the environment, especially therapeutics, underlie disease progression and relapse. Thus, there exists a pressing need to understand the molecular mechanisms that determine the functional heterogeneity of tumor sub-clones …

Transposable Element Expression In Human Embryo Single-Cell Rna-Seq Data, Corinne Sexton

UNLV Theses, Dissertations, Professional Papers, and Capstones

Transposable elements (TEs) are genetic sequences which are mobile within the genome, including DNA transposons and retrotransposons. Though the vast majority are no longer able to move or duplicate in humans, they still are actively transcribed in both germline and somatic cells, particularly in early human development. TEs are expressed in an extremely cell-type and stage specific pattern during embryogenesis, suggesting that they may either have a regulatory role in the cell or be transcribed along with cell-specific genes. However, earlier studies have focused on hESC models or early embryos up to day 6, with differing patterns of TE expression. …

Identification Of Trim24 Domain Essentiality In Primary Trim24coe Carcinosarcoma Cell Lines, Cem Dede

Dissertations and Theses (Open Access)

Regulation of transcriptional control is a critical feature for organismal development and survival. Because of its effects on chromatin-controlled expression, disruptions of this delicately tuned mechanism are an important factor in development of tumorigenesis. Therefore, there is a growing interest in targeting these control mechanisms for their potential therapeutic values.

Our lab previously discovered the epigenetic regulator function of Tripartite motif protein 24 (TRIM24) through its H3K4me0 and H3K23ac dual histone signature reader function, its negative regulatory effect on the p53 tumor suppressor, in addition to its shown oncogenic driving capacity on immortalized mammary epithelial cells when overexpressed. Although TRIM24 …

Identifying Positive Selection In Multiple Subspecies Of Xylella Fastidiosa, Daniel Doroteo Flores

Theses and Dissertations

For this study, we will be looking to identify positive selection in eight genomes of the bacterial plant pathogen Xylella fastidiosa. A previous study used a branching method that identified 2 genes with positive selection along with a site-specific method identifying 34 genes showing positive selection. This current study focused specifically on the site-specific method, resulting in 28 genes (of 1,039 tested) showing positive selection. Of the 28 genes showing positive selection, 12 of them come from the pathogenicity, virulence and cellular structural categories. The remaining genes are found in the biosynthesis, metabolism, macro metabolism, and cellular process categories. …

Non-Invasive Tests For The Detection Of Nasopharyngeal Carcinoma, Mohan Sivanesan Vijaya

Student Works (2020-2029)

Nasopharyngeal carcinoma (NPC) is a malignancy that arises in the epithelium of the nasopharynx. Diagnosis is often delayed due to inaccessibility of primary tumour site which leads to inaccurate biopsy. The pathogenesis of NPC is linked to the Epstein-Barr virus (EBV) and studies have shown the employability of plasma EBV DNA for the detection and monitoring of NPC. MicroRNAs (miRNA) are a class of small non-coding RNA that are dysregulated in various cancers and have been extensively studied as biomarker due to their stability in various biospecimens. The aim of this project is to evaluate the load of EBV DNA …

Differentiation Propensity, Safety, And Therapeutic Potential Of Mesenchymal Stem Cells Of Dental Origin, Musa Sabri

Student Works (2020-2029)

Introduction: A new area in medical research has emerged with the discovery of mesenchymal stem cells (MSCs) and their ability to differentiate into other cell types. Specifically, these cells are found in various tissues and have been utilized in the field of regenerative medicine to support tissue repair as well as in cell replacement. Lately, MSCs of dental origin have been the main players used for regenerative purposes although subtle differences based on their tissue source separate them. Objectives: This study aims to determine the differential propensity, safety, and potential therapeutic applications of dental-derived MSCs. This involves examining various aspects …

Molecular Approaches For Analyzing Organismal And Environmental Interactions, Stephanie Fern Hudon

Boise State University Theses and Dissertations

Our planet is undergoing rapid change due to the expanding human population and climate change, which leads to extreme weather events and habitat loss. It is more important than ever to develop methods which can monitor the impact we are having on the biodiversity of our planet. To influence policy changes in wildlife and resource management practices we need to provide measurable evidence of how we are affecting animal health and fitness and the ecosystems needed for their survival. We also need to pool our resources and work in interdisciplinary teams to find common threads which can help preserve biodiversity …

Artificial Intron Technology To Generate Conditional Knock-Out Mice, Amber N. Thomas-Gordon

Dissertations and Theses (Open Access)

Genetic engineering has been re-shaped by the invention of new tools in modern biotechnology in a way that offers precision and efficiency in modifying the genome at a single nucleotide level and/or allowing precise control of gene expression. Such gene manipulation brings about significant findings and revelations in comprehending more about embryonic development, cellular and physiological functions, and disease pathology. Current methods used to produce conditional knockouts have limitations on conditional allele placement and modification varies among genes in different organisms. Thus, a system for generating conditional alleles with fidelity remains a challenge. My goal was to examine an approach …

Statistical Methods For Resolving Intratumor Heterogeneity With Single-Cell Dna Sequencing, Alexander Davis

Dissertations and Theses (Open Access)

Tumor cells have heterogeneous genotypes, which drives progression and treatment resistance. Such genetic intratumor heterogeneity plays a role in the process of clonal evolution that underlies tumor progression and treatment resistance. Single-cell DNA sequencing is a promising experimental method for studying intratumor heterogeneity, but brings unique statistical challenges in interpreting the resulting data. Researchers lack methods to determine whether sufficiently many cells have been sampled from a tumor. In addition, there are no proven computational methods for determining the ploidy of a cell, a necessary step in the determination of copy number. In this work, software for calculating probabilities from …

Metagenomic, Viral And Host Genetic Analyses Of Congenital Tremor In Pigs, Kylee Marie Sutton

School of Biological Sciences: Dissertations, Theses, and Student Research

The Pestivirus genus contains several viral species having a major impact on the livestock species. While there were only four major pestiviral species for a time, recent metagenomic sequencing approaches identified additional species, such as atypical porcine pestivirus (APPV). Congenital tremor was first identified almost a hundred years ago and since still has an impact on swine health. There are two main types of congenital tremor, type A and B, with type A congenital tremor further subcategorized based on causative agent. Until recently, type A-II congenital tremor did not have a known cause. Recent viral sequencing of affected samples, including …

Molecular Characterisation Of Hsp70 Gene Expression, Histopathology And Immune System Of Snakehead Fish, Channa Striata, Under Temperature And Bacterial Stress, Eid Elhussein Ihlam Ibrahim

Student Works (2020-2029)

Snakeheads are air-breathing freshwater fishes containing two genera, Channa (Asia) and Parachanna (Africa). The Asian genus is dominated by Channa striata which is found in southern and Southeastern parts of the continent. In this research, environmental and bacteria stressor to Channa striata were investigated. HSP70 gene was studied as an environmental stress gene (ChHSP70). Results showed a cDNA sequence of the gene to be (~918bp). It was also shown the gene is highly similar to that of other fish species. Constructing a phylogenetic tree of the gene across vertebrate species revealed six main clusters; same class remained conserved by showing …

An Investigation Into Multi-View Error Correcting Output Code Classifiers Applied To Organ Tissue Classification, Daniel Alvarez

UNLV Theses, Dissertations, Professional Papers, and Capstones

Large amounts of data is being generated constantly each day, so much data that it is difficult to find patterns in order to predict outcomes and make decisions for both humans and machines alike. It would be useful if this data could be simplified using machine learning techniques. For example, biological cell identity is dependent on many factors tied to genetic processes. Such factors include proteins, gene transcription, and gene methylation. Each of these factors are highly complex mechanism with immense amounts of data. Simplifying these can then be helpful in finding patterns in them. Error-Correcting Output Codes (ECOC) does …

Interrelationships Among Monorchiid Trematodes With Special Emphasis On Some Northwestern Atlantic Genera, Apryle Panyi

Master's Theses

The Monorchiidae Odhner, 1911 is a cosmopolitan family of flukes (Trematoda: Digenea) comprising species that parasitize the digestive tract of estuarine and marine fishes as adults. Compared with other oceans, recent morphological or molecular taxonomic work conducted on monorchiid species from the northwestern Atlantic Ocean has been sparse (Manter, 1931; Overstreet, 1969; Andres et al., 2018; Wee et al., 2018, 2019, 2020). Therefore, the present work investigated the interrelationships of some monorchiids from the northwestern Atlantic Ocean with emphasis on several genera and investigated if Lasiotocus minutus (Manter, 1931) Thomas, 1959 constitutes a complex of cryptic species. New morphological and …

Model-Based Analysis Of Chromatin Interactions From Dcas9-Based Capture-3c-Seq., Yong Chen, Yunfei Wang, Xin Liu, Jian Xu, Michael Q Zhang

College of Science & Mathematics Departmental Research

Deciphering long-range chromatin interactions is critical for understanding temporal and tissue-specific gene expression regulated by cis- and trans-acting factors. By combining the chromosome conformation capture (3C) and biotinylated dCas9 system, we previously established a method CAPTURE-3C-seq to unbiasedly identify high-resolution and locus-specific long-range DNA interactions. Here we present the statistical model and a flexible pipeline, C3S, for analysing CAPTURE-3C-seq or similar experimental data from raw sequencing reads to significantly interacting chromatin loci. C3S provides all steps for data processing, quality control and result illustration. It can automatically define the bin size based on the binding peak of the dCas9-targeted regions. …

A Novel Serpinb1 Single-Nucleotide Polymorphism Associated With Glycemic Control And Β-Cell Function In Egyptian Type 2 Diabetic Patients, Dina H. Kassem, Aya Adel, Ghada H. Sayed, Mohamed M. Kamal

Pharmacy

Aims: Serine protease inhibitor B1 (SerpinB1) is a neutrophil elastase inhibitor that has been proved to be associated with type 2 diabetes mellitus and pancreatic β-cell proliferation. In this study, we investigated 2 SERPINB1 SNPs, rs114597282 and rs15286, regarding their association with diabetes risk and various anthropometric and biochemical parameters in Egyptian type 2 diabetic patients.

Materials and Methods: A total of 160 subjects (62 control and 98 type 2 diabetic patients) participated in this study. Various anthropometric and biochemical parameters were assessed. Genotyping assay for the two SNPs was done using TaqMan genotyping assays. The association of rs15286 variants …

Arabidopsis Heat Shock Granules Exhibit Dynamic Cellular Behavior And Can Form In Response To Protein Misfolding In The Absence Of Elevated Temperatures, Rosalie Lawrence , '12, Nicholas J. Kaplinsky

Biology Faculty Works

No abstract provided.