Genetics and Genomics Commons^™

Evaluation Of Clinical Practices And Needs About Variants Of Uncertain Significance Results In Inherited Cardiac Arrhythmia And Inherited Cardiomyopathy Genes, Reka D. Muller

USF Tampa Graduate Theses and Dissertations

The increasing numbers of genetic tests in clinical settings have identified many variants of uncertain significance (VUS) in genes associated with inherited cardiac arrhythmias and inherited cardiomyopathies. Evaluation of clinical practices including counseling strategies and medical management recommendations for patients and their families is important to improve patient outcomes and prevent over- or under-treatment that may result in morbidity or fatality. The purpose of this study is to describe provider practices related to VUS results including how they conduct risk assessments and ascertain what information and medical management recommendations they provide to patients with VUS results and the patients’ family …

Comparing Family Sharing Behaviors In Brca Carriers With Palb2 Carriers, Joy E. Kechik

USF Tampa Graduate Theses and Dissertations

Identifying individuals with hereditary cancer predisposition can improve health outcomes for patients and their family members through early cancer detection and prevention strategies. Prior research about family sharing of genetic test results among those with hereditary breast cancer has overwhelmingly been limited to the BRCA1 and BRCA2 genes. The present study sought to compare family sharing behaviors in women with pathogenic BRCA variants to women with pathogenic variants in the more recently identified and characterized PALB2 gene. A total of 18 BRCA carriers and 13 PALB2 carriers were interviewed about family sharing practices using a semi-structured guide based on the …

Unified Methods For Feature Selection In Large-Scale Genomic Studies With Censored Survival Outcomes, Lauren Spirko-Burns, Karthik Devarajan

COBRA Preprint Series

One of the major goals in large-scale genomic studies is to identify genes with a prognostic impact on time-to-event outcomes which provide insight into the disease's process. With rapid developments in high-throughput genomic technologies in the past two decades, the scientific community is able to monitor the expression levels of tens of thousands of genes and proteins resulting in enormous data sets where the number of genomic features is far greater than the number of subjects. Methods based on univariate Cox regression are often used to select genomic features related to survival outcome; however, the Cox model assumes proportional hazards …

Does Family Communication Matter? Exploring Knowledge Of Breast Cancer Genetics In Cancer Families, Deborah Himes, Sarah H. Davis, Jane Lassetter Phd, Rn, Neil E. Peterson, Margaret F. Clayton, Wendy C. Birmingham, Anita Y. Kinney

Faculty Publications

Purpose: Knowledge of breast cancer genetics is critical for those at increased hereditary risk who must make decisions about breast cancer screening options. This descriptive study explored theory-based relationships among cognitive and emotional variables related to knowledge of breast cancer genetics in cancer families. Methods: Participants included first-degree relatives of women with breast cancer who had received genetic counseling and testing. Study participants themselves did not have breast cancer and had not received genetic counseling or testing. Data were collected by telephone interviews and surveys. Variables analyzed included numeracy, health literacy, cancer-related distress, age, education, and the reported amount of …

Supervised Dimension Reduction For Large-Scale "Omics" Data With Censored Survival Outcomes Under Possible Non-Proportional Hazards, Lauren Spirko-Burns, Karthik Devarajan

COBRA Preprint Series

The past two decades have witnessed significant advances in high-throughput ``omics" technologies such as genomics, proteomics, metabolomics, transcriptomics and radiomics. These technologies have enabled simultaneous measurement of the expression levels of tens of thousands of features from individual patient samples and have generated enormous amounts of data that require analysis and interpretation. One specific area of interest has been in studying the relationship between these features and patient outcomes, such as overall and recurrence-free survival, with the goal of developing a predictive ``omics" profile. Large-scale studies often suffer from the presence of a large fraction of censored observations and potential …

Meta-Analysis Of Characteristics In Upper Missouri River Fishes: Prediction Of Invasiveness, Steph Purcell

UNO Student Research and Creative Activity Fair

Invasive species are often considered a global threat due to their association with biodiversity loss and novel diseases. The Missouri-Mississippi River Watershed, including the Missouri River Basin, is particularly vulnerable to invasive species because of low species diversity following historic glaciation events. Management of invasive species is imperative in this watershed but continues to be challenging in that there are over 100 invasive species currently present in this region. The goal of this project is to identify characteristics associated with successful invasions that may assist in developing management strategies to reduce the negative outcomes caused by the establishment of invasive …

Longer Trinucleotide Repeats Of Androgen Receptor Gene: Infertility In Males, Mussarat Ashraf, Hemaila Tariq, Rehana Rehman

Department of Biological & Biomedical Sciences

No abstract provided.

Microbiological Safety Of Areca Nut-Containing, Ready-To-Eat Chewing Substances Common Among Pakistani Paediatric Population: A Pilot Study, Anjiya Sulaiman, Hina Saeed Zuberi, Seema Irfan, Kulsoom Ghias

Department of Biological & Biomedical Sciences

Objective: To evaluate microbiological contamination of areca nut-containing, ready-to-eat chewing substances easily accessible to vulnerable paediatric population.
Methods: A pilot study was conducted at the Aga Khan University Medical College from June to October 2016 on twelve samples of areca nut-containing chewing substances (four supari, paan masala and gutka each) collected from various localities of Karachi. These were evaluated individually for total colony counts, hygiene indicator organisms, pathogenic organisms, and levels of aflatoxin. Microbial contamination was analysed using pour-plate method. Fungal aflatoxin levels were measured by enzyme-linked immunosorbent assay (ELISA)..
Results: Wet gutka preparations were contaminated by Escherichia coli and …

Diversity Of Resistance Mechanisms In Carbapenem-Resistant Enterobacteriaceae At A Health Care System In Northern California, From 2013 To 2016, Fiona Senchyna, Rajiv L. Gaur, Johanna Sandlund, Cynthia Truong, Guillaume Tremintin, Dietmar Kültz, Carlos A. Gomez, Fiona B. Tamburini, Tessa Andermann, Ami Bhatt, Isabella A. Tickler, Nancy Watz, Indre Budvytiene, Gongyi Shi, Fred C. Tenover, Niaz Banaei

Biology Faculty Publications

The mechanism of resistance in carbapenem-resistant Enterobacteriaceae (CRE) has therapeutic implications. We comprehensively characterized emerging mechanisms of resistance in CRE between 2013 and 2016 at a health system in Northern California. A total of 38.7% (24/62) of CRE isolates were carbapenemase gene-positive, comprising 25.0% (6/24) blaOXA-48 like, 20.8% (5/24) bla_KPC, 20.8% (5/24) bla_NDM, 20.8% (5/24) bla_SME, 8.3% (2/24) bla_IMP, and 4.2% (1/24) bla_VIM. Between carbapenemases and porin loss, the resistance mechanism was identified in 95.2% (59/62) of CRE isolates. Isolates expressing bla_KPC were 100% susceptible to ceftazidime–avibactam, meropenem–vaborbactam, …

Investigating The Role Of Free Radicals In Huntington's Disease Using Drosophila Melanogaster, Jennifer Libov

Honors Program: Senior Projects (Public)

During normal cell metabolism, reactive oxygen species (ROS) are produced as a byproduct of oxidative phosphorylation. ROS are utilized in the cell as a signaling molecule and can be maintained at healthy levels by cellular antioxidants. However, when the cell experiences oxidative stress due to environmental or genetic conditions, levels of ROS can exceed healthy levels and inhibit necessary life functions by damaging biomolecules and cellular structures. This loss of function can lead to physiological decline and neurodegeneration, such as in diseases like Alzheimer’s, amyotrophic lateral sclerosis (ALS), and, potentially, Huntington’s disease. The following experiments use the model genetic organism …

Investigating The Dna-Binding Site For Virb, A Key Transcriptional Regulator Of Shigella Virulence Genes, Using An In Vivo Binding Tool, Monika M.A. Karney, Joy A. Mckenna, Natasha Weatherspoon-Griffin, Alexander D. Karabachev, Makensie E. Millar, Eliese A. Potoceck, Helen J. Wing

Life Sciences Faculty Research

The transcriptional anti-silencing and DNA-binding protein, VirB, is essential for the virulence of Shigella species and, yet, sequences required for VirB-DNA binding are poorly understood. While a 7-8 bp VirB-binding site has been proposed, it was derived from studies at a single VirB-dependent promoter, icsB. Our previous in vivo studies at a different VirB-dependent promoter, icsP, found that the proposed VirB-binding site was insufficient for regulation. Instead, the required site was found to be organized as a near-perfect inverted repeat separated by a single nucleotide spacer. Thus, the proposed 7-8 bp VirB-binding site needed to be re-evaluated. Here, we engineer …

Mrub_3019 Casa Gene Is An Ortholog To E. Coli B2760, Kelsey Heiland, Dr. Lori Scott

Meiothermus ruber Genome Analysis Project

This research is part of the Meiothermus ruber genome annotation project which aims to predict gene function with various bioinformatics tools. We investigated the function of Mrub_3019, which encodes the CasA protein involved in the multi-subunit effector complex for the CRISPR-Cas immunity system and predicted it to be an ortholog of E. coli K12 MG1655 b2760 (casA). We predicted that Mrub_3019 encodes the protein CasA, which is involved in PAM recognition of CRISPR interference pathway. Foreign DNA will bind to CasA, which signals Cas3 for helicase-mediated DNA degradation. Our hypothesis is supported by low E-values for pairwise alignment in NCBI …

Composition Of The Survival Motor Neuron (Smn) Complex In Drosophila Melanogaster, A. Gregory Matera, Amanda C. Raimer, Casey A. Schmidt, Jo A. Kelly, Gaith N. Droby, David Baillat, Sara Ten Have, Angus I. Lamond, Eric J. Wagner, Kelsey M. Gray

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Spinal Muscular Atrophy (SMA) is caused by homozygous mutations in the human survival motor neuron 1 (SMN1) gene. SMN protein has a well-characterized role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), core components of the spliceosome. SMN is part of an oligomeric complex with core binding partners, collectively called Gemins. Biochemical and cell biological studies demonstrate that certain Gemins are required for proper snRNP assembly and transport. However, the precise functions of most Gemins are unknown. To gain a deeper understanding of the SMN complex in the context of metazoan evolution, we investigated its composition in Drosophila …

Phylogenetic History Of The Amy Gene Cluster In Catarrhines, Christian M. Gagnon

Theses and Dissertations

This study phylogenetically analyzed 30 AMY-related genes from 11 primates. The results show the gradual expansion of the AMY gene family which could have allowed primates to adapt to various ecological landscapes and maximize energy intake from starch-rich foods in periods of food scarcity.

Refernment: An R Package For Annotating Rna Editing In Plastid Genomes, Tanner A. Robison, Paul G. Wolf

Biology Faculty Publications

PREMISE OF THE STUDY: In the absence of cDNA, the annotation of RNA editing in plastomes must be done manually, representing a significant time cost to those studying the organellar genomes of ferns and hornworts.

METHODS AND RESULTS: We developed an R package to automatically annotate apparent nonsense mutations in plastid genomes. The software successfully annotates such sites and results in no false positives for data with no sequencing or assembly errors.

CONCLUSIONS: Compared to manual annotation, ReFernment offers greater speed and accuracy for annotating RNA editing sites. This software should be especially useful for researchers generating large numbers of …

Illumination Pattern Design With Deep Learning For Single-Shot Fourier Ptychographic Microscopy, Yi Fei Cheng , '21, Megan Strachan , '21, Zachary Weiss , '20, Moniher Deb , '19, Dawn M. Carone, Vidya Ganapati

Biology Faculty Works

Fourier ptychographic microscopy allows for the collection of images with a high space-bandwidth product at the cost of temporal resolution. In Fourier ptychographic microscopy, the light source of a conventional widefield microscope is replaced with a light-emitting diode (LED) matrix, and multiple images are collected with different LED illumination patterns. From these images, a higher-resolution image can be computationally reconstructed without sacrificing field-of-view. We use deep learning to achieve single-shot imaging without sacrificing the space-bandwidth product, reducing the acquisition time in Fourier ptychographic microscopy by a factor of 69. In our deep learning approach, a training dataset of high-resolution images …

Non-Invasive Analysis Of The Sputum Transcriptome Discriminates Clinical Phenotypes Of Asthma, Xiting Yan

Yale Day of Data

Whole transcriptome wide gene expression profiles in the sputum and circulation from 100 asthma patients were measured using the Affymetrix HuGene 1.0ST arrays. Unsupervised clustering analysis based on pathways from KEGG were used to identify TEA clusters of patients from the sputum gene expression profiles. The identified TEA clusters have significantly different pre-bronchodilator FEV1, bronchodilator responsiveness, exhaled nitric oxide levels, history of hospitalization for asthma and history of intubation. Evaluation of TEA clusters in children from Asthma BRIDGE cohort confirmed the identified differences in intubation and hospitalization. Furthermore, evaluation of the TH2 gene signatures suggested a much lower prevalence of …

Radiation Dose Estimation By Completely Automated Interpretation Of The Dicentric Chromosome Assay, Peter Rogan, Yanxin Li, Ben Shirley, Ruth Wilkins, Farrah Norton, Joan Knoll

Biochemistry Publications

Accuracy of the automated dicentric chromosome (DC) assay relies on metaphase image selection. This study validates a software framework to find the best image selection models that mitigate inter-sample variability. Evaluation methods to determine model quality include the Poisson goodness-of-fit of DC distributions for each sample, residuals after calibration curve fitting and leave-one-out dose estimation errors. The process iteratively searches a pool of selection model candidates by modifying statistical and filter cut-offs to rank the best candidates according to their respective evaluation scores. Evaluation scores minimize the sum of squared errors relative to the actual radiation dose of the calibration …

Molecular Switch Model For Cardiomyocyte Proliferation, Satwat Hashmi, H R. Ahmad

Department of Biological & Biomedical Sciences

This review deals with the human adult cardiomyocyte proliferation as a potential source for heart repair after injury. The mechanism to regain the proliferative capacity of adult cardiomyocytes is a challenge. However, recent studies are promising in showing that the 'locked' cell cycle of adult cardiomyocytes could be released through modulation of cell cycle checkpoints. In support of this are the signaling pathways of Notch, Hippo, Wnt, Akt and Jak/Stat that facilitate or inhibit the transition at cell cycle checkpoints. Cyclins and cyclin dependant kinases (CDKs) facilitate this transition which in turn is regulated by inhibitory action of pocket protein …

Biotechnological Application In Aquaculture And Its Sustainability Constraints, Olaganathan Rajee, Tang Kar Mun Alicia

Publications

The valuable nutritional and biochemical properties have made fisheries products one of the most vital high-quality protein sources for human consumption. Aquaculture has become the great alternative to substitute wild catches when the yield from fishing are no longer sufficient to sustain the massive food demand of the human population which is constantly burgeoning. However, aquaculture requires multidisciplinary approaches with holistic and environmental-friendly management measures to ensure its long term success and sustainability. Biotechnological applications have enhanced the effectiveness and cost-efficiencies of aquaculture by augmenting the productivity of aquaculture to meet global needs. Despite the benefits, the biotechnological application in …

An Albino Mutant In Brassica Rapa Maps To The Pdx2 Locus On Chromosome 10, Beatriz M. Garcia

STAR Program Research Presentations

We have identified an albino mutant in the plant Brassica rapa. This recessive mutation could provide insights into the photosynthetic pathways of all plants. Previously the mutation was mapped to chromosome 10 of Brassica rapa. To narrow down the chromosomal region containing the albino mutation, we grew a segregating population of plants. DNA was extracted from albino and wildtype (green) plants and genotyped using PCR markers on chromosome 10. The genotype detected using the INDEL2 marker perfectly predicted whether a plant was albino or WT. This indicates that the INDEL2 marker is tightly linked to the albino mutation. INDEL2 is …

Divergence Of Threespine Stickleback That Differ In Nuptial Coloration, Clara Sophie Jenck

Electronic Theses and Dissertations

Recent research has led to a much better understanding of the evolutionary processes that mold and structure variation within and among populations. How populations diverge at the genome-wide level and how polymorphism is maintained within a species, however, remains unclear. We address these questions with two freshwater color morphs, red and black, of the threespine stickleback fish (Gasterosteus aculeatus) from the northwest United States, in which a shift from red to black nuptial coloration occurred in several locations following glacial retreat. We measured phenotypic variation in a suite of traits and used next generation sequencing to characterize within-species and among-morph …

Proximate And Ultimate Consequences Of Stressed-Induced Maternal, Paternal, And Joint Parental Effects In A Changing World, Whitley Rayen Lehto

Electronic Theses and Dissertations

Parental experience can alter the developmental and rearing environments of offspring, resulting in parental effects on offspring traits. I addressed the consequences of stress-induced maternal, paternal, and joint parental effects from both ultimate (ecological/evolutionary) and proximate (physiological/epigenetic) perspectives. I used a full-factorial design in which threespine stickleback (Gasterosteus aculeatus) mothers, fathers, both, or neither were exposed to a model predator at developmentally appropriate times to test for predator-induced maternal, paternal, and joint parental effects on daughters’ mating behavior and egg glucocorticoids (stress hormones) and on offspring gene expression. Maternal and paternal predator exposure independently yielded daughters who preferred …

Regeneration Data: Rna Sequences, Abijeet Singh Mehta, Amit Singh

Regeneration data

Abstract for paper for which this research was collected: Notophthalmus viridescens (Red-spotted Newt) possess amazing capabilities to regenerate their organs and other tissues. Previously, using a de novo assembly of the newt transcriptome combined with proteomic validation, we identified a novel family of 5 protein members expressed in adult tissues during regeneration in Notophthalmus viridescens. Due to absence of transgenic approaches in the Notophthalmus, and conservation of genetic machinery across species, we generated transgenic Drosophila melanogaster to misexpress these genes.

Samples for RNA sequencing were collected at third instar larval (L3) developmental stage. Out of the total 36,099 …

Using A Comparative Approach To Investigate The Relationship Between Landscape And Genetic Connectivity Among Woodland Salamander Population, Alexander C. Camercon, Robert B. Page, James I. Watling, Cari-Ann M. Hickerson, Carl Anthony

2019 Faculty Bibliography

For many amphibian species, reduced landscape connectivity results in reduced genetic connectivity among populations. However, large efective population sizes (Ne) slow the rate of genetic drift, causing subdivided populations to remain genetically similar despite little gene fow among them. Therefore, it is important to address the combined efects of Ne and matrix permeability to quantify the relative importance of gene fow and genetic drift on isolated amphibian populations.

We applied a landscape genetic approach to investigate how patterns of gene fow (m), Ne (inferred via θ) and genetic difer- entiation difer among Eastern Red-backed Salamander (Plethodon cinereus) populations in a …

Vitamin D Receptor Gene Polymorphisms Knowledge And Breast Cancer In Texas, Ejike Roland Egwuekwe

Walden Dissertations and Doctoral Studies

Breast cancer is a world health problem and is a leading cause of cancer-related death among women in the United States. However, breast cancer risks were reported to be reduced through exposure to Vitamin D through its Receptors identified as the p53 target gene. The purpose of this study was to assess the associations between VDR gene polymorphisms knowledge/awareness and decisions to reduce breast cancer risks and likelihood of mammogram screening among women in Texas. Data from survey were used. Roy adaptation model was the theoretical framework that guided this quasi- experimental, quantitative research. The dependent variables were decisions to …

De Novo Development And Characterization Of Tetranucleotide Microsatellite Loci Markers From A Southeastern Population Of The House Finch (Haemorhous Mexicanus), Edgar E. Sanchez, J Dylan Maddox, Douglas G. Barron

Journal of the Arkansas Academy of Science

Microsatellites are short tandem repeats (e.g. TAGATAGA) of base pairs in a species’ genome. High mutation rates in these regions produce variation in the number of repeats across individuals that can be utilized to study patterns of population- and landscape-level genetics and to determine parentage genetically. In this project our objective was to develop microsatellite markers for the House Finch, Haemorhous mexicanus. This species has become one of the most well-studied species of songbirds due to its unique geographical, evolutionary, and epidemiological history. Using mist-nets we captured birds on the Arkansas Tech University campus and collected blood samples to …

Tiger Monitoring In Bhutan Using Non-Invasive Genetic Tools, Tashi Dhendup

Graduate Student Theses, Dissertations, & Professional Papers

Large carnivores are one of the most threatened group of animals in the world. They suffer from prey depletion, persecution by humans, and habitat loss and fragmentation which are extensively driven by anthropogenic activities. One such species is the tiger Panthera tigris. Tigers are found in thirteen countries in Asia and are protected across the range; however, tiger numbers have declined as an after effect of habitat loss, prey depletion and poaching. Human-induced changes have reduced the tiger's historical range to about 7% in which a little more than 3900 tigers are found. Most of these individuals currently exist …

Insects And The Evolution Of Developmental Pathways: Functional Analysis Of Genetic Sex Determination Mechanisms In Oncopeltus Fasciatus, Josefine Just

Honors Theses

Natural selection alters genetic pathways over evolutionary time. However, different pathways have been shown to maintain mutations at varying rates, leading to different levels of conservation across developmental pathways. Sex determination pathways, in particular, show vast diversity across animals despite the fundamental conservation of biological sex itself. Here, I investigated the sex determination pathway of the hemimetabolous insect, Oncopeltus fasciatus. The large milkweed bug, O. fasciatus, is part of the order Hemiptera, which provides a relevant outgroup study to other insects in which sex determination has been studied to date. I studied three sex determination genes, intersex, fruitless …

Glial Cell Mechanisms Regulate Alcohol Sedation In Drosophila Melanogaster, Kristen M. Lee

Theses and Dissertations

Approximately 16 million people in America are diagnosed with Alcohol Use Disorder (AUD) but no efficacious medical treatments exist. Alcohol-related behaviors can be studied in model organisms, and changes in these behaviors can be correlated with either (i) a risk for alcohol dependence or (ii) a symptom/feature of AUD itself. Although AUD is a disease of the central nervous system, a majority of research has focused on the neuronal underpinnings, leaving glial contributions largely undescribed. We used Drosophila melanogaster (fruit fly) to identify genes whose expression in glia regulates alcohol sedation. Mammals and Drosophila have conserved behavioral responses to alcohol …