Other Genetics and Genomics Commons^™

The Impact Of A Lynch Syndrome Diagnosis By Population Genomic Screening On Family Communication, Medical Management, And Lifestyle Changes, Reem Ibrahim Bux, Brooke Nicole Delehoy

Human Genetics Theses

The purpose of population genomic screening programs is to help in prevention and treatment of conditions that takes into account an individual’s unique genetics, environmental, and lifestyle factors. Through this “genome-first” approach, individuals at increased lifetime risk for certain conditions are identified, allowing them and their relatives to qualify for preventative medical care and surveillance (Schwartz et al., 2018). An example institution that utilizes this approach is Geisinger’s MyCode Community Initiative, where their goal is to “make healthcare better” through research and its application to patient care (MyCode Community Health Initiative, n.d.). MyCode reports back medically actionable results for conditions …

The Genes Of Pain, Alina Semenova

Thinking Matters Symposium

Pain is an important defense mechanism that protects us from environmental factors that might harm us. Our body's response to pain helps us to avoid injury. However, constant pain is a problem. Management of constant pain is an important area of research. Studies have shown that genetic variation contributes to pain sensitivity.

Numerous pain-related genes and their functional polymorphisms (CYP450, MOR-1, COMT, GCH1, etc.) have been identified in the past ten years. In particular, three opioid receptors (OPRM, OPRD and OPRK) are associated with pain sensitivity. One of the most studied human functional polymorphisms is the debrisoquine/sparteine polymorphism of CYP2D6 …

Enhanced Detection Of Expanded Repeat Mrna Foci With Hybridization Chain Reaction, M. Rebecca Glineburg, Yuan Zhang, Amy Krans, Elizabeth M. Tank, Sami J. Barmada, Peter K. Todd

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Transcribed nucleotide repeat expansions form detectable RNA foci in patient cells that contribute to disease pathogenesis. The most widely used method for detecting RNA foci, fluorescence in situ hybridization (FISH), is powerful but can suffer from issues related to signal above background. Here we developed a repeat-specific form of hybridization chain reaction (R-HCR) as an alternative method for detection of repeat RNA foci in two neurodegenerative disorders: C9orf72 associated ALS and frontotemporal dementia (C9 ALS/FTD) and Fragile X-associated tremor/ataxia syndrome. R-HCR to both G₄C₂ and CGG repeats exhibited comparable specificity but > 40 × sensitivity compared to FISH, …

Zebrafish (Danio Rerio) Hoxb6: An Exploration Into The Divergence Of Genomic Dna Sequence And Gene Expression Across Teleost Fishes Post-Genome Duplication, Amber Lynn Rittgers, Pierre Le Pabic, Adam Davis

Georgia Journal of Science

Hoxb6 is an evolutionarily conserved developmental regulatory gene that functions, in part, to pattern several organs and organ systems within the embryonic trunk during vertebrate embryogenesis. The cis-regulatory circuitry mediating trunk expression in mouse (Mus musculus) may be conserved across gnathostome vertebrates, as several other species show similar trunk expression patterns, including chicken (Gallus gallus), dogfish shark (Scyliorhinus canicula), and several teleost fishes. A whole genome duplication event that occurred in the lineage leading to teleost fishes has generated at least two Hoxb6 genes, hoxb6a and b6b. Two teleost fishes of the …

Phenotypic Characters And Expression Of Cytokinin Oxidase 2 (Osckx2) Gene In Rice Genotypes With Enhanced Grain Filling Traits, Cielo Luz C. Mondejar, Maria Genaleen Q. Diaz, Teresita H. Borromeo, Tonette P. Laude, Arlen A. Dela Cruz, Roel Rodriguez Suralta

The Philippine Agricultural Scientist

Poor grain filling is still a major problem in rice production. Recent attention in crop varietal improvement is focused on heritable delayed foliar senescence, enhanced root system, and fast-synchronous grain filling pattern. Nine genotypes were characterized for these three enhanced grain-filling traits to determine the role of these traits on grain yield. Based on heritable delayed foliar senescence, NSIC Rc436 and NSIC Rc512 were characterized as Type A, while PSB Rc18 and NSIC Rc514 as Type B. These genotypes had a significantly higher yield than IR64, owing to their high spikelets number. Data suggested a positive correlation between the delayed …

Morphological And Microsatellite-Based Molecular Characterization Of Locally Collected Sugarcane (Saccharum Officinarum L.), Carl F. Libayao, Carmina C. Manuel Ma., Eureka Teresa M. Ocampo, Antonio G. Lalusin

The Philippine Agricultural Scientist

Fifty-three sugarcane accessions from Aklan, Iloilo, Cagayan, Nueva Vizcaya, Isabela, and Bohol were characterized using forty-two morphometric parameters and forty microsatellite markers. Twenty-six morphological characters using the Shannon-Weaver diversity index showed high variability (H’ = > 0.76) and were able to characterize the fifty-three sugarcane accessions. Cluster analysis of morphological traits based on sequential agglomerative hierarchical test and Euclidean distance revealed two groupings at 0.3 coefficient of dissimilarity. The clustering of some accessions was irrespective of their geographical origin indicating a high degree of phenotypic similarity in some accessions. Out of the forty microsatellite markers, twenty-five (63%) have a PIC value …

Growth Of Diatom Fistulifera Alcalina In Bacterial Co-Culture And Comparative Mitogenomics Of Fistulifera Species, Erwin David Berthold

FIU Electronic Theses and Dissertations

Diatoms are excellent biological models of growth and intracellular oil generation. The productivity and compounds of diatoms, especially oils, support aquatic food chains and human medical and industrial needs. The qualities that made diatoms prolific producers, specifically diatom physiological features such as growth rates with intracellular lipid storage in alkaline environments, are however poorly understood. Another physiological aspect that remains unexplored is the effects of bacteria on the growth and lipid production of alkaliphilic diatoms. More studies, especially co-cultures, are needed for advances in diatom biology and strain performance for the algal biotechnological field. Besides physiology, diatom genetics using next-generation …

Identifying Genes Downstream Of Mef2 That Influence Ethanol Sedation In Drosophila Melanogaster, Ananya Talikoti

Theses and Dissertations

Alcohol use disorder is a global public health issue that affects millions across the world. It can result in negative physical and mental health outcomes, and currently treatment options are limited and rates of relapse are high. Identifying genes that affect aspects of ethanol behaviors in model organisms, such as Drosophila melanogaster, can serve to eventually develop more robust therapeutic interventions for those experiencing alcohol dependence. Previous studies have identified a relationship between a person's initial sensitivity to alcohol and their abuse potential for the drug in later life. Therefore, we can study sedation behaviors in Drosophila melanogaster to …

The Evolution Of Technology, Kelly Cooper

Williams Honors College, Honors Research Projects

As per outlined by Dr. Quinn, this literature review will be a comprehensive review paper including an overview of current and previous research done in the field of Memetics. This will further include sifting through literature to hone in on a specific, new area of memetics Dr. Weeks is focused on, the evolutionary change of abiotic factors through purchasing. This is to be completed with the help of the library worshops designed to teach the skills necessary to undergo a literature review of this size. I will also participate in weekly reading groups to discuss papers and work closely with …

Post-Mortem Brain Nuclei Isolation For Single Nucleus Rna Sequencing, Charles J. Tran, Lin Y. Xie, Min Zhao, Edwin Jcg Van Den Oord, Karolina A. Aberg

Undergraduate Research Posters

Abstract

Post-Mortem Brain Nuclei Isolation for Single Nucleus RNA Sequencing

Charles Tran, Dept. of Biology, with Dr. Karolina Aberg, VCU School of Pharmacy

When tissue samples are studied in bulk without consideration for different cell proportions and types, results can be biased due to the attenuation of unique cellular expressions. In order to study cell type specific RNA expression profiles within tissue, single cell RNA sequencing (scRNA-seq) is used. For scRNA-seq studies it is critical to have intact cells. However, when investigating frozen post-mortem brain tissue, it is often challenging to isolate intact whole cells. An alternative solution is to …

Composition And Homology In The Taxonomic Classification Of Escherichia Coli, Tanya Irani

Theses and Dissertations (Comprehensive)

As new techniques have been introduced, specifically the possibility of complete genome sequencing, better methods of defining bacterial species have also been proposed. One of the most recently proposed methods, using bioinformatic techniques, is to calculate the average nucleotide identity (ANI) between the homologous genome segments of different isolates. Another method for species discrimination that has been tested successfully is the similarity of DNA compositional signatures. However, in a recent update, DNA signatures split the available Escherichia coli complete genomes into three groups. To check if this result was consistent with such genomes belonging to different species, we tested methods …

Dietary Development And Nutritional Ontogeny In Gorilla Beringei : A Multi-Layered, -Omics Approach, Emma C. Cancelliere

Dissertations, Theses, and Capstone Projects

In species who consume folivorous diets, immature individuals must contend with the challenges of extracting nutrients from fibrous foods before dietary adaptations and strategies are fully developed. Additionally, immatures have distinct nutritional needs to support their stage-specific metabolic and biophysiological requirements. To meet these stage-specific needs, while constrained by underdeveloped feeding strategies and digestive capacities, immatures may adopt distinct diets better suited to their specific developmental context. However, where dietary modification is constrained by low dietary diversity or landscape homogeneity, it is unclear how immature individuals compensate through alternative strategies. In turn, little is known about the nutritional and life …

Structure And Evolution Of Lizard Immunity Genes, Trent Santonastaso

University of 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 …

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 …

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

Dissertations & 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 …

Wild Mice With Different Social Network Sizes Vary In Brain Gene Expression, Patricia C. Lopes, Barbara König

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Background

Appropriate social interactions influence animal fitness by impacting several processes, such as mating, territory defense, and offspring care. Many studies shedding light on the neurobiological underpinnings of social behavior have focused on nonapeptides (vasopressin, oxytocin, and homologues) and on sexual or parent-offspring interactions. Furthermore, animals have been studied under artificial laboratory conditions, where the consequences of behavioral responses may not be as critical as when expressed under natural environments, therefore obscuring certain physiological responses. We used automated recording of social interactions of wild house mice outside of the breeding season to detect individuals at both tails of a distribution …

A Strategic Plan To Thread Genomics Competencies Into Undergraduate Curriculum, Holly Mathis

Dissertations

Problem: Genomics in undergraduate nursing education has experienced slow adoption in the United States. Various approaches have been proposed but do not address barriers to successful implementation.

Methods: A strategic plan was developed to increase the amount of genetics and genomic content in the curriculum of an undergraduate nursing program. A gap analysis was performed on the curriculum revealing a paucity of content. A SWOT analysis informed the strategic plan, which included a faculty education program using the ANA/ISONG’s Essentials of Genetic and Genomic Nursing: Competencies, Curricula Guidelines and Outcome Indicators (2^nd ed.) (2009) as a foundation.

Results: Faculty …

Epigenetics A Decolonizing Science, Wade Paul

Electronic Thesis and Dissertation Repository

Epigenetics is the study of gene expression that does not entail alterations to the actual DNA. Decolonization is a theoretical and political movement that seeks to deconstruct colonial institutions and ideologies and reconstruct new and balanced approaches that accept and respect Indigenous worldviews. This project studies the decolonizing potential of epigenetics. Using genealogy as the method, the study establishes a long history of reductionist and deterministic thought that shaped the study of genetic science. Particular instances like thrift gene theory are explored to highlight how genetic explanations have been detrimental to the health and wellbeing of Indigenous people and illustrate …

Effects Of Aurora Kinase C Expression On Retina Pigmented Epithelial Cell Migration, Proliferation, And Anchorage Independent Growth, Justin Bejar

Seton Hall University Dissertations and Theses (ETDs)

Cancer is a common and deadly disease in the United States with 1,806,590 new cancer cases in 2019 and 606,520 cancer deaths projected in 2020. These deaths are primarily due to the uncontrolled cell proliferation and migratory nature of the disease. Many cancer cells express genes normally restricted to meiotic cells. For example, Aurora Kinase C (AURKC) is known to regulate chromosome segregation in meiotic cells yet it is expressed in many different types of cancer, such as breast, prostate, colorectal, liver, cervical, thyroid, and testicular cancers. As a means to study the function of AURKC, an …

Cancer Genetic Counselors’ Perceptions Of Nutritional Recommendations, Breann Reinsch

KGI Theses and Dissertations

Objective: The purpose of this research study is to understand the perspectives of genetic counselors who work with patients in the cancer setting and explore if nutrition is a consideration when counseling patients.

Background: Evidence on the influence of nutrition on cancer risk is increasing with retrospective cohort studies. The American Cancer Society states that smoking, body mass index (BMI), poor nutrition, and excess alcohol consumption are directly linked to cancer occurrences, therefore some cancers may be preventable through lifestyle changes (American Cancer Society, 2016). In cancer genetic counseling sessions, patients are often inquiring about nutritional recommendations. A majority of …