Genetics Commons^™

Emergence Of Oxacillin Resistance In Stealth Methicillin-Resistant Staphylococcus Aureus Due To Meca Sequence Instability, Richard V. Goering, Erin A. Swartzendriber, Anne E. Obradovich, Isabella A. Tickler, Fred C. Tenover

Biology Faculty Publications

Staphylococcus aureus strains that possess a mecA gene but are phenotypically susceptible to oxacillin and cefoxitin (OS-MRSA) have been recognized for over a decade and are a challenge for diagnostic laboratories. The mechanisms underlying the discrepancy vary from isolate to isolate. We characterized seven OS-MRSA clinical isolates of six different spa types from six different states by whole-genome sequencing to identify the nucleotide sequence changes leading to the OS-MRSA phenotype. The results demonstrated that oxacillin susceptibility was associated with mutations in regions of nucleotide repeats within mecA. Subinhibitory antibiotic exposure selected for secondary mecA mutations that restored oxacillin resistance. …

Mixing It Up: The Impact Of Episodic Introgression On The Evolution Of High-Latitude Mesocarnivores, Jocelyn P. Colella

Biology ETDs

At high latitudes, climatic oscillations have triggered repeated episodes of organismal divergence by geographically isolating populations. For terrestrial species, extended isolation in glacial refugia – ice-free regions that enable terrestrial species persistence through glacial maxima – is hypothesized to stimulate allopatric divergence. Alternatively, upon glacial recession, divergent populations expanded from independent glacial refugia and often contacted other diverging populations. In the absence of reproductive isolating mechanisms, this biogeographic process may trigger hybridization and ultimately, gene flow between divergent taxa. My dissertation research aims to understand how these episodic periods of isolation and contact have impacted the evolution of high latitude …

Prioritization Of Variants For Investigation Of Genotype-Directed Nutrition In Human Superpopulations, Pascal D. Nilsson, Jacklyn M. Newsome, Henry M. Santos, Martin R. Schiller

Life Sciences Faculty Research

Dietary guidelines recommended by key health agencies are generally designed for a global population. However, ethnicity affects human disease and environment-gene interactions, including nutrient intake. Historically, isolated human populations with different genetic backgrounds have adapted to distinct environments with varying food sources. Ethnicity is relevant to the interaction of food intake with genes and disease susceptibility; yet major health agencies generally do not recommend food and nutrients codified by population genotypes and their frequencies. In this paper, we have consolidated published nutrigenetic variants and examine their frequencies in human superpopulations to prioritize these variants for future investigation of population-specific genotype-directed …

Host Genetics And Geography Influence Microbiome Composition In The Sponge Ircinia Campana, Sarah M. Griffiths, Rachael E. Antwis, Luca Lenzi, Anita Lucaci, Donald C. Behringer, Mark J. Butler, Richard F. Preziosi

Biological Sciences Faculty Publications

1. Marine sponges are host to large, diverse communities of microorganisms. These microbiomes are distinct among sponge species and from seawater bacterial communities, indicating a key role of host identity in shaping its resident microbial community. However, the factors governing intraspecific microbiome variability are underexplored, and may shed light on the evolutionary and ecological relationships between host and microbiome.

2. Here, we examined the influence of genetic variation and geographic location on the composition of the Ircinia campana microbiome.

3. We developed new microsatellite markers to genotype I. campana from two locations in the Florida Keys, USA, and characterised their …

Unraveling The Neurogenin/Ngn-1 Gene Regulatory Network Of C. Elegans Using Classical Genetics And Comparative Transcriptomics, Elyse Christensen

Master of Science in Integrative Biology Theses

Proper nervous system development is required for an organism’s survival and function. Defects in neurogenesis have been linked to neurodevelopmental disorders such as schizophrenia and autism spectrum disorders. Understanding the gene regulatory networks that orchestrate neural development, specifically cascades of proneural transcription factors, can better elucidate which genes are most essential in governing early neurogenesis. Neurogenins are a family of such factors that are both sufficient and necessary for the development of neural sub-types in mice, primarily through the regulation of other factors, particularly NeuroD. The objective of this study was to evaluate previously established regulatory targets of neurogenin(ngn-1 …

Cross-Species Genome-Wide Analysis Reveals Molecular And Functional Diversity Of The Unconventional Interferon-Ω Subtype, Lauren E. Shields, Jordan Jennings, Qinfang Liu, Jinhwa Lee, Wenjun Ma, Frank Blecha, Laura C. Miller, Yongming Sang

Agricultural and Environmental Sciences Faculty Research

Innate immune interferons (IFNs), particularly type I IFNs, are primary mediators regulating animal antiviral, antitumor, and cell-proliferative activity. These antiviral cytokines have evolved remarkable molecular and functional diversity to confront ever-evolving viral threats and physiological regulation. We have annotated IFN gene families across 110 animal genomes, and showed that IFN genes, after originating in jawed fishes, had several significant evolutionary surges in vertebrate species of amphibians, bats and ungulates, particularly pigs and cattle. For example, pigs have the largest but still expanding type I IFN family consisting of nearly 60 IFN-coding genes that encode seven IFN subtypes including multigene subtypes …

A Mendelian Randomization Study Of Coronary Artery Disease And Three Amino Acids: Alanine, Glycine, And Glutamine, Allan Uribe

Dissertations and Theses

Cardiovascular disease is the leading cause of death worldwide. Coronary Artery Disease (CAD) accounts for the majority of those deaths. Observational studies have identified risk factors that have been helpful in lowering the death rate, including hypertension, high cholesterol, diabetes, smoking, physical inactivity and poor diet. The effects of these risk factors on CAD remain unclear. To clarify the effect of three amino acids, alanine, glutamine, and glycine on CAD I applied a two sample Mendelian randomization analysis to extensively genotyped observational data. In a sample with up to 184,000 individuals and approximately 60,000 controls, SNPs that reached genome wide …

Participant Perspectives On A Phase I/Ii Ocular Gene Therapy Trial (Nct02077361), Stephanie P. Brooks, Shelly Benjaminy, Tania M. Bubela

Office of the Provost

Background: To learn from the experiences of potential clinical trial participants, participants in a Phase 1 ocular gene therapy trial, and their partners to improve communications and trial conduct.
Materials and methods: Primary and secondary qualitative analysis of semi-structured interviews of potential participants (n = 20), clinical trial participants (n = 2) and their partners (n = 2) in a gene therapy clinical trial for choroideremia (NCT02077361). Analysis included: 1) thematic analysis of transcribed entrance and exit semi-structured interviews with trial participants and their partners; and 2) secondary qualitative analysis of interviews with potential trial participants, …

Effects Of Meiotic Drive On Developing Eye-Stalks In Stalk-Eyed Flies, Christopher Lepore, Olivia Smith, Heather Wood, Josephine Reinhardt Phd

McNair Scholars Program

Teleopsis dalmanni, commonly known as Stalk-Eyed flies, are known for their sexually dimorphic eye-stalks which females use to pick mates. Within the Gombak-12 population, some individuals contain meiotic drive which is known to influence eye-stalk length and sex ratios. Our goal was to identify genes in developing eye tissue that play a role in causing meiotic drive. To identify these candidate genes, we determined the sex and meiotic drive status of individuals by dissecting 3rd instar larvae for their carcasses. After finding that Qiagen Puregene and Qiagen DNEasy columns DNA extraction techniques worked best—determined by using gel electrophoresis—we prepared …

Crispr/Cas9 In Yeast: A Multi-Week Laboratory Exercise For Undergraduate Students, Randi J. Ulbricht

Open Educational Resources

Providing undergraduate life-science students with a course-based research experience that utilizes cutting-edge technology, is tractable for students, and is manageable as an instructor is a challenge. Here, I describe a multi-week lesson plan for a laboratory-based course with the goal of editing the genome of budding yeast, Saccharomyces cerevisiae. Students apply knowledge regarding advanced topics such as: CRISPR/Cas9 gene editing, DNA repair, genetics, and cloning. The lesson requires students to master skills such as bioinformatics analysis, restriction enzyme digestion, ligation, basic microbiology skills, polymerase chain reaction, and plasmid purification. Instructors are led through the technical aspects of the protocols, …

Female Family Members Lack Understanding Of Indeterminate Negative Brca1/2 Test Results Shared By Probands, Deborah Himes, Deborah K. Gibbons, Wendy C. Birmingham, Renea L. Beckstrand, Amanda Gammon, Anita Y. Kinney, Margaret F. Clayton

Faculty Publications

Genetic test results have important implications for close family members. Indeterminate negative results are the most common outcome of BRCA1/2 mutation testing. Little is known about family members’ understanding of indeterminate negative BRCA1/2 test results. The purpose of this mixed-methods study was to investigate how daughters and sisters received and understood genetic test results as shared by their mothers or sisters. Participants included 81 women aged 40-74 with mothers or sisters previously diagnosed with breast cancer and who received indeterminate negative BRCA1/2 test results. Participants had never been diagnosed with breast cancer nor received their own genetic testing or counseling. …

Hippo Signaling In Cancer: Lessons From Drosophila Models, Kirti Snigdha, Karishma Sanjay Gangwani, Gauri Vijay Lapalikar, Amit Singh, Madhuri Kango-Singh

Biology Faculty Publications

Hippo pathway was initially identified through genetic screens for genes regulating organ size in fruitflies. Recent studies have highlighted the role of Hippo signaling as a key regulator of homeostasis, and in tumorigenesis. Hippo pathway is comprised of genes that act as tumor suppressor genes like hippo (hpo) and warts (wts), and oncogenes like yorkie (yki). YAP and TAZ are two related mammalian homologs of Drosophila Yki that act as effectors of the Hippo pathway. Hippo signaling deficiency can cause YAP- or TAZ-dependent oncogene addiction for cancer cells. YAP and TAZ are often activated …

Mapping A New Disease Resistance Locus In An F1 Progeny Derived From Two Grape Wild Relatives, Gaurab Bhattarai

Graduate Theses/Dissertations

Linkage maps and quantitative trait loci (QTL) analysis have become essential tools for the positional cloning of agronomically important genes and for marker-assisted breeding. In this study, two North American grape species, Vitis rupestris and Vitis riparia, and their 294 F₁ progeny were used to construct parental linkage maps and to perform QTL analysis for downy mildew resistance. Single nucleotide polymorphism (SNP) discovery was accomplished using genotyping-by-sequencing (GBS) and resulted in 348,888 SNPs. Of these, 11,063 informative SNP markers (3.17% of the original SNP dataset) were derived after filtering for various quality parameters and missing data. A two-way …

Clinical Utility Of Exon Deletion/Duplication Microarray Testing - A Children’S Mercy Kansas City Two-Year Experience, Binu Porath

Research Days

No abstract provided.

The Genetic Information Nondiscrimination Act At Age 10: Gina’S Controversial Assertion That Data Transparency Protects Privacy And Civil Rights, Barbara J. Evans

William & Mary Law Review

The genomic testing industry is an edifice built on data transparency: transparent and often unconsented sharing of our genetic information with researchers to fuel scientific discovery, transparent sharing of our test results to help regulators infer whether the tests are safe and effective, and transparent sharing of our health information to help treat other patients on the premise that we gain reciprocity of advantage when each person’s health care is informed by the best available data about all of us. Transparency undeniably confers many social benefits but creates risks to the civil rights of the people whose genetic information is …

A Discrepancy Between The Human Reference Genome (Grch37) And Transcriptome (Refseq) Results In The Incorrect Annotation Of A Clinically-Relevant Sequence Variant In Recql4, Lisa A. Lansdon

Research Days

No abstract provided.

Detecting The Cold: Do Innexins Function In Cold Nociception?, Rachel Barborek

Senior Honors Projects, 2010-2019

Nociception is the perception of and response to harmful stimuli. Nociception is essential for minimizing tissue damage, but aberrant nociceptive pathways can result in chronic pain. Chronic pain in the U.S. is commonly managed with wide-acting opioids, and precisely defining the components of nociceptive pathways could uncover novel targets for pain therapies. I hypothesize that the vitally quick process of nociception would utilize electrical synapses because they transmit signals between neurons more quickly than chemical synapses do. This study, therefore, aims to uncover the potential role of the eight Drosophila melanogaster gap junction proteins, the Innexins, in cold nociception. Wild …

Detection Of Genetic Thrombophilia (Fa V Leiden & Pt20210 Mutation) Using Genexpert Technology With Iqcp Implementation, Mariegrace Saquilayan

Natural Sciences and Mathematics | Clinical Laboratory Sciences

Abstract

Individuals having Genetic Thrombophilia pose a higher risk of having a thrombotic event. It is crucial to determine these gene variants to prevent a possible episode of thromboembolism. With the current PCR method, it involves individual processing of DNA isolation, amplification, and detection using three (3) different instruments resulting to an increased turnaround time of 5 to 7 days and additional staff utilization. It is performed by repetitive manual sample pipetting and preparation of reagent master mixes in small vials. Results interpretations are entered manually to a worklist built initially for final verification. These processes increase the risk of …

Fusarium Euwallacea: A Serious Threat To The Native And Ornamental Trees And Shrubs In Southern California, Greg Tyler, Yixing Zheng, Michael Kulinich, Hagop Atamian

Student Scholar Symposium Abstracts and Posters

Fusarium Euwallacea is a fungus that has established symbiotic relationship with the beetle Euwallacea aff. fornicata. The beetle bores through the tree bark and into the sapwood making long tunnels inside the trees. The beetle carries the F. Euwallacea in a specialized structure on its body called mandibular mycangia and cultivates the fungus in the tunnels on which the beetle feeds to grow and reproduce. The growth of the fungus obstructs water and mineral transport in the plant xylem tissue, resulting in dieback, wilt and mortality of the host tree. Fungi are known to secrete proteins called effectors in …

Genetic Crosstalk And Its Effects On Virulence And Mating In Ustilago Maydis., John S. Desmarais

College of Arts & Sciences Senior Theses

Ustilago maydis is a model organism for study of fungal mating and host infection. Two compatible haploid mating types must mate to form a dikaryon in order for the fungus to infect its host, corn (Zea mays). There are a variety of genetic mechanisms that regulate mating and infection in the fungus, many of which coregulate both processes. The aim of this study was to investigate how alteration of certain regulatory proteins in U. maydis affects these basic processes as well as how alteration of genes involved in signaling pathways can affect the expression of one another. Primarily, …