Genetics Commons^™

Genetic Studies Of Wildlife, Brittaney L. Buchanan

School of Natural Resources: Dissertations, Theses, and Student Research

Genetic techniques are being more frequently used to understand the biology and management of wildlife species. The wild turkey is one species of genetic interest because the correct identification of individuals to the subspecies level is difficult using traditional methods. Currently phenotypic differences in plumage, especially the upper tail coverts, are used to assign individuals to subspecies. To hunters wanting to complete a “grand slam,” identification of birds’ subspecies is important. This study focuses on the five extant subspecies: Eastern (M. g. silvestris), Osceola (M. g. osceola), Rio Grande (M. g. intermedia), Merriam’s ( …

A Basic Ddradseq Two‐Enzyme Protocol Performs Well With Herbarium And Silica‐Dried Tissues Across Four Genera, Ingrid E. Jordon-Thaden, James B. Beck, Catherine A. Rushworth, Michael D. Windham, Nicolas Diaz, Jason T. Cantley, Christopher T. Martine, Carl J. Rothfels

Faculty Journal Articles

Premise

The ability to sequence genome‐scale data from herbarium specimens would allow for the economical development of data sets with broad taxonomic and geographic sampling that would otherwise not be possible. Here, we evaluate the utility of a basic double‐digest restriction site–associated DNA sequencing (ddRADseq) protocol using DNAs from four genera extracted from both silica‐dried and herbarium tissue.

Methods

DNAs from Draba, Boechera, Solidago, and Ilex were processed with a ddRADseq protocol. The effects of DNA degradation, taxon, and specimen age were assessed.

Results

Although taxon, preservation method, and specimen age affected data recovery, large phylogenetically informative …

158— Optimization And Development Of The Luria-Delbrück Experiment For Geneseo Genetics Labs, Abigail Scheffler

GREAT Day Posters

The classic genetics experiment by Salvador Luria and Max Delbruck showed that mutations are present prior to selection rather than arising in response to selective pressures. In this experiment, we used Escherichia coli as our model organism and the antibiotics streptomycin and rifampicin to show students in a laboratory setting how this hypothesis can be applied. Specifically, we optimized antibiotic concentrations and the amount of bacterial cells to use in order for the activity to run smoothly and consistently in a student laboratory. We found that the ideal conditions are 1000 cells/ml and 25 micrograms/ml of streptomycin. These concentrations showed …

Biol 250: Curly Hair Trait: Homozygous Or Heterozygous, Kaysi Bing

Virtual 2020 Spring Student Showcase for Research and Creative Inquiry

Research Aim: To connect the SNP rs17646946 AG genotype and curly hair

Hypothesis: People expressing a GG genotype at the SNP rs17646946 are most likely to have the curly hair trait

No Association Between An Oxytocin Receptor Genetic Variant And Depressive Symptoms, Rachel Sisley, Grace Sullivan, Scott Stoltenberg

UCARE: Research Products

• Depression has the greatest impact on daily functioning capability of all diseases and adversely effects individuals globally (Flint & Kendler, 2014). • Human capital value of these losses has been about $40 billion dollars annually (Kessler, 2012). • Analysis of the genetic and biological systems associated with depressive symptoms, such as the oxytocin system, could lead to identifying risk variants and possible treatment development. • Genetic Variation in OXTR is associated with a variation in depressive symptoms including low selfesteem, pessimism, and low self-efficacy, etc. (Conner et al., 2018). • The A allele of the SNP rs53576 is considered …

Examining The Roles Of The Conserved Mrna Deadenylase Complex On Drosophila Neuronal Structures, Megan Mccaughey, Scott Barbee

DU Undergraduate Research Journal Archive

The most common cause of inherited mental deficiency and monogenetic cause of autism is Fragile X Syndrome (FXS). There is little known about the origins of this disease which will be investigated in the present study. The series of experiments conducted examined the potential role of mRNA deadenylation proteins as contributing factors to the pathogenesis of FXS using Drosophila melanogaster as a model organism. One of the main complexes involved in deadenylation is the CNOT complex, which is comprised of many proteins, including POP2, TWIN, and NOT3. Each protein plays a unique role within the CNOT complex. This goal of …

Utilizing Crispr/Cas9 Gene Editing Determine The Role Of Cnr1 During Zebrafish Development, Camme Sells

[Archive] Belmont University Research Symposium (BURS)

In a world where cannabinoids are being used more frequently as for medicinal purposes, the importance for research on cannabinoid biology is steadily increasing. The goal of this study was to gain a greater understanding of the effect cannabinoids have on developing zebrafish embryos. Work in this area of developmental biology could give way to an understanding of the safety of a human fetus during pregnancy with a mother who uses cannabis medicinal therapy. The CRISPR/Cas 9 system was utilized in this study to genetically edit the zebrafish embryo genome to remove the function of the Cannabinoid Receptor 1 ( …

Using Crispr/Cas9 Gene Editing To Remove Twist2 To Determine Its Role During Somite Development In Zebrafish, Caleb Holdener

[Archive] Belmont University Research Symposium (BURS)

Embryonic Mesoderm is a precursor to various types of tissues, such as the somatic mesoderm. Somites are a segmented tissue that gives rise to the sclerotome in vertebrates. This sclerotome further develops into the axial skeleton (Stickney, Barresi, and Devoto 2000). Somites are easily observable under low power microscopy during fish development. In fish, great strides have been made in studying the developmental fate of somites (Stoiber, Haslett, and Sänger 1999; Stickney, Barresi, and Devoto 2000). Zebrafish have been studied in many labs due to their similarities with higher vertebrates. These advantages include their inexpensive cost of care, external fertilization, …

Twist1b Knockout Generation In Zebrafish Using Crispr-Cas9, Grace Hurley

[Archive] Belmont University Research Symposium (BURS)

The Twist gene is found in numerous organisms, including humans, mice and zebrafish (Yeo et al., 2009). It is a vital gene in development and is needed for the organism to survive (Yeo et al., 2009). Specifically, the Twist gene family aids in specialization and differentiation of mesodermal cells, telling somites, segmented blocks of mesoderm, what to become (Germanguz et al., 2007). Over time, the Twist gene has duplicated into paralogs, each having differences in their functions (Germanguz et al., 2007). Twist1b is a protein coding gene that is a paralog to the human Twist1 gene (ZFIN, 2020). In zebrafish, …

Utilizing Crispr/Cas9 Gene Editing Determine The Role Of Cnr1 During Zebrafish Development, Ellis Chase

[Archive] Belmont University Research Symposium (BURS)

The CRISPR-Cas 9 system is a process used to create mutations, insertions, or deletions within a desired gene. It can be used to create mutant organisms necessary to study the function and impact of a particular gene¹. Cannabinoids are active chemicals found in cannabis, the most common of which being cannabinol (CBD)². Cannabinoid receptors are an integral part of the endocannabinoid system, recognizing cannabinoid signals to promote physiological processes like pain sensation, memory, mood, and appetite³. Studying these cannabinoid receptors can provide insight into how cannabis can affect bodily processes.

Zebrafish are small translucent …

Evolutionary Ecology Of Host-Parasite Relationships: Role Of Host Ecology, Phylogeny, And Demographics In Shaping Parasite Evolution, Erika Taylor Gendron

Biology ETDs

Host-parasite systems exist across complex and ecologically heterogeneous landscapes, and may occur across taxonomically and ecologically disparate host species. Under these conditions, mechanisms underlying microevolutionary processes (i.e. gene flow, genetic drift) are not always clear, and may be mediated by numerous co-occurring factors specific to individual hosts. Host traits such as host immunology, demographics, phylogeny and ecology may act in concert to shape host-parasite relationships, and ultimately evolutionary processes. The research described herein used phylogeographic, phylogenomic, and population genetic methods to further understanding of how host traits impact the evolutionary ecology of trematode systems, using avian schistosomes (Digenea: Schistosomatidae) as …

Integrating Mouse And Human Genetic Data To Move Beyond Gwas And Identify Causal Genes In Cholesterol Metabolism, Zhonggang Li, James A Votava, Gregory J M Zajac, Jenny N Nguyen, Fernanda B Leyva Jaimes, Sophia M Ly, Jacqueline A Brinkman, Marco De Giorgi, Sushma Kaul, Cara L Green, Samantha L St Clair, Sabrina L Belisle, Julia M Rios, David W Nelson, Mary G Sorci-Thomas, William R Lagor, Dudley W Lamming, Chi-Liang Eric Yen, Brian W Parks

Faculty, Staff and Students Publications

Identifying the causal gene(s) that connects genetic variation to a phenotype is a challenging problem in genome-wide association studies (GWASs). Here, we develop a systematic approach that integrates mouse liver co-expression networks with human lipid GWAS data to identify regulators of cholesterol and lipid metabolism. Through our approach, we identified 48 genes showing replication in mice and associated with plasma lipid traits in humans and six genes on the X chromosome. Among these 54 genes, 25 have no previously identified role in lipid metabolism. Based on functional studies and integration with additional human lipid GWAS datasets, we pinpoint Sestrin1 as …

Principles Of Rna Processing From Analysis Of Enhanced Clip Maps For 150 Rna Binding Proteins, Eric L Van Nostrand, Gabriel A Pratt, Brian A Yee, Emily C Wheeler, Steven M Blue, Jasmine Mueller, Samuel S Park, Keri E Garcia, Chelsea Gelboin-Burkhart, Thai B Nguyen, Ines Rabano, Rebecca Stanton, Balaji Sundararaman, Ruth Wang, Xiang-Dong Fu, Brenton R Graveley, Gene W Yeo

Faculty, Staff and Students Publications

BACKGROUND: A critical step in uncovering rules of RNA processing is to study the in vivo regulatory networks of RNA binding proteins (RBPs). Crosslinking and immunoprecipitation (CLIP) methods enable mapping RBP targets transcriptome-wide, but methodological differences present challenges to large-scale analysis across datasets. The development of enhanced CLIP (eCLIP) enabled the mapping of targets for 150 RBPs in K562 and HepG2, creating a unique resource of RBP interactomes profiled with a standardized methodology in the same cell types.

RESULTS: Our analysis of 223 eCLIP datasets reveals a range of binding modalities, including highly resolved positioning around splicing signals and mRNA …

De Novo Frameshift Variants In The Neuronal Splicing Factor Nova2 Result In A Common C-Terminal Extension And Cause A Severe Form Of Neurodevelopmental Disorder, Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, Bertrand Isidor, Jérémie Courraud, Maria-Victoria Hinckelmann, Frederic Tran Mau-Them, Chantal Sellier, Alica Goldman, Aida Telegrafi, Alicia Boughton, Candace Gamble, Sebastien Moutton, Angélique Quartier, Nolwenn Jean, Paul Van Ness, Sarah Grotto, Sophie Nambot, Ganka Douglas, Yue Cindy Si, Jamel Chelly, Zohra Shad, Elisabeth Kaplan, Richard Dineen, Christelle Golzio, Nicolas Charlet-Berguerand, Jean-Louis Mandel, Amélie Piton

Faculty, Staff and Students Publications

The neuro-oncological ventral antigen 2 (NOVA2) protein is a major factor regulating neuron-specific alternative splicing (AS), previously associated with an acquired neurologic condition, the paraneoplastic opsoclonus-myoclonus ataxia (POMA). We report here six individuals with de novo frameshift variants in NOVA2 affected with a severe neurodevelopmental disorder characterized by intellectual disability (ID), motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and abnormal brain MRI. The six variants lead to the same reading frame, adding a common proline rich C-terminal part instead of the last KH RNA binding domain. We detected 41 genes differentially spliced after NOVA2 …

Assessing Seed Handling Processes To Facilitate A Community-Engaged Approach To Regional Forest Restoration, Meredith Cobb, Michaela J. Woods, Ryan Mcewan

Biology Faculty Publications

In the Midwestern United States, there is a strong management impetus toward reforestation to replace trees lost to due to tree mortality and to establish forests on previously cleared properties. Here, we describe a public outreach and volunteer effort that aimed to generate positive, community-engaged restoration outcomes and report on a practical experiment involving seed handling. We obtained tree seeds that were donated by members of the community to local land managers. We evaluated the size of the seeds collected and tested the influence of common stratification media (none, sand and vermiculite) and seed size on germination success of three …

Assessing Social Media For Themes Of Trisomy 18 And 13, Falecia Metcalf

Theses and Dissertations

Themes within virtual communities have been explored examining topics such as prenatal diagnosis and termination for fetal anomalies, and it is known that when receiving a diagnosis of trisomy 18 or 13 parents may turn to online resources for information and emotional support. Knowledge of what content patients may encounter on various social media platforms about prenatal testing for trisomy 18 and 13 at large has not yet been established. However, this information would aid healthcare professionals in providing anticipatory guidance for patients using social media.

This study is a preliminary scan of social media to identify content areas and …

De Novo Sequencing And Analysis Of Salvia Hispanica Tissue-Specific Transcriptome And Identification Of Genes Involved In Terpenoid Biosynthesis, James Wimberley, Joseph Cahill, Hagop S. Atamian

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Salvia hispanica (commonly known as chia) is gaining popularity worldwide as a healthy food supplement due to its low saturated fatty acid and high polyunsaturated fatty acid content, in addition to being rich in protein, fiber, and antioxidants. Chia leaves contain plethora of secondary metabolites with medicinal properties. In this study, we sequenced chia leaf and root transcriptomes using the Illumina platform. The short reads were assembled into contigs using the Trinity software and annotated against the Uniprot database. The reads were de novo assembled into 103,367 contigs, which represented 92.8% transcriptome completeness and a diverse set of Gene Ontology …

Liver Ubd Is Upregulated In The Lew.1wr1 Rat, Helen Gibson, Amelia Clopp, Genoah Collins

Research Horizons Day Posters

No abstract provided.

Care: Collecting And Assessing Cancer Family History To Identify At Risk Individuals Educational Intervention For Community Health Workers, Laura Moreno

USF Tampa Graduate Theses and Dissertations

Background: Collection of family health history (FHH) can identify individuals at increased risk and guide disease-specific recommendations for management, early detection, and prevention. Yet, collection of FHH is often low or infrequent despite national initiatives. In the Hispanic/Latino population, community outreach and education professionals (CORE-Ps) have effectively increased cancer prevention and control behaviors; but, limited research has been conducted to assess genetic and family health history knowledge among CORE-Ps. We sought to evaluate an educational program designed to improve cancer FHH and cancer genetics knowledge, self-efficacy and attitudes. Methods: The ARBOLES Program educates bilingual (Spanish-English) CORE-P to increase knowledge about …

The Sineb1 Element In The Long Non-Coding Rna Malat1 Is Necessary For Tdp-43 Proteostasis, Tuan M Nguyen, Elena B Kabotyanski, Lucas C Reineke, Jiaofang Shao, Feng Xiong, Joo-Hyung Lee, Julien Dubrulle, Hannah Johnson, Fabio Stossi, Phoebe S Tsoi, Kyoung-Jae Choi, Alexander G Ellis, Na Zhao, Jin Cao, Oluwatoyosi Adewunmi, Josephine C Ferreon, Allan Chris M Ferreon, Joel R Neilson, Michael A Mancini, Xi Chen, Jongchan Kim, Li Ma, Wenbo Li, Jeffrey M Rosen

Faculty, Staff and Students Publications

Transposable elements (TEs) comprise a large proportion of long non-coding RNAs (lncRNAs). Here, we employed CRISPR to delete a short interspersed nuclear element (SINE) in Malat1, a cancer-associated lncRNA, to investigate its significance in cellular physiology. We show that Malat1 with a SINE deletion forms diffuse nuclear speckles and is frequently translocated to the cytoplasm. SINE-deleted cells exhibit an activated unfolded protein response and PKR and markedly increased DNA damage and apoptosis caused by dysregulation of TDP-43 localization and formation of cytotoxic inclusions. TDP-43 binds stronger to Malat1 without the SINE and is likely 'hijacked' by cytoplasmic Malat1 to the …

Journey Mapping The Minority Student’S Path Toward Genetic Counseling: A Holistic Picture, Tatiana E. Alvarado-Wing

USF Tampa Graduate Theses and Dissertations

Reasons for limited ethnic and racial diversity among genetic counselors in the United States may be elucidated through better understanding the experiences of minority students who are attending genetic counseling graduate programs as well as recent graduates. Semi-structured interviews were conducted with minority participants using Journey Mapping to elicit touchpoints that positively or negatively impact success at varying points on the path to becoming a genetic counselor. Touchpoints with negative impacts include; late awareness of the profession, observing the lack of diversity in the field, the financial burden of the application process, and microaggressions from peers, program leadership, and clinical …

Terms Of Service: The Use And Protection Of Genomic Information By Companies, Databases, And Law Enforcement, Sophia Kallas

Honors Program: Senior Projects (Public)

Private genomic companies have become a popular trend in the last two decades by providing customers with information regarding their ancestry and health risks. However, the profiles received from these companies can also be uploaded to public databases for various purposes, including locating other family members. Both testing companies and public databases have private interests, and both are at risk of law enforcement intervention for the purpose of forensic familial searching. There is little federal legislation protecting the privacy of an individual’s genetic profile. Consequently, it has been up to federal agencies, state laws, and judicial precedents to prevent the …

Evaluating Effects Of Cancer Genetic Counseling On Several Brief Patient Impact Measures, Alyson Kneusel

USF Tampa Graduate Theses and Dissertations

Many outcomes for assessing cancer genetic counseling (GC) utility have been proposed, with few studies evaluating multiple, theory-based, brief patient-reported experience and outcome measures simultaneously as part of a single study. We conducted a pilot study in which patients seen for pre-test cancer GC took a survey before and after their GC session to evaluate the session’s impact on multiple patient impact measures and assess the relationship between these measures. Measures based on the self-determination theory (SDT) assessed three basic needs including: 1) perceived autonomy support, 2) relatedness to the provider, and 3) competence to make a decision. SDT posits …

Molecular Differentiation Of Astragalus Species And Varieties From The Western United States: The Chloroplast Dna Bridge Between Evolution And Molecular Systematics, Marwa Neyaz, Daniel Cook, Rebecca Creamer

Poisonous Plant Research (PPR)

Locoweeds are the most widespread poisonous plant problem in the world and have been reported in the Western United States since the 1800s, causing tremendous losses in livestock. Consumption of locoweeds by grazing animals stimulates the neurological disease, locoism, characterized by weight loss, ataxia, and lack of muscular coordination. The name locoweed is used for Astragalus and Oxytropis species known to contain swainsonine, the toxic principle produced by the plant endophytic fungus Undifilum. Astragalus includes 2,500-3,000 species and many varieties that have almost identical morphological characteristics that overlap among species, leading to improper identification. Therefore, the aim of this study …

Dibutyltin Alters Immune Cell Production Of The Pro-Inflammatory Cytokines Interleukin (Il) 1Β And Il-6: Role Of Mitogen-Activated Protein Kinases And Changes In Mrna, Linda B Sushak, Sahra Gabure, Jaquel Maise, Jessica Arnett, Margaret Whalen

Chemistry Faculty Research

Dibutyltin (DBT) is used to stabilize plastics and as a deworming agent in some poultry. It is found in human blood (levels as high as 0.3 μM). Interleukin (IL) 1β (IL-1β) and IL-6 are pro-inflammatory cytokines produced by lymphocytes, monocytes, and other cells. Elevated levels of IL-1β and IL-6 have been associated with pathologies including rheumatoid arthritis and cancers. DBT was shown to decrease IL-1β and IL-6 secretion from immune cells at higher concentrations while causing increases at lower concentrations. However, it was not clear if these changes were due to DBT's alteration of the secretory process or due its …

Expression Level Of Sh2 And Bt2 Genes In Some Advanced Corn Lines Under Tropical Environment, Fatemeh Abna, Farhat A. Avin, Noorma Wati Haron

Agricultural and Environmental Sciences Faculty Research

The rate-limiting step in starch synthesis entails the synthesis of ADP-Glc from Glc-1-P and ATP by AGPase. AGPase is a heterotetramer composed of two large subunits encoded by Sh2 and two small subunits encoded by Bt2. We examined the transcript level of each gene that encodes AGPase through quantitative real-time PCR (qRT_PCR) within endosperm and leaf tissues from 6 newer composite corn lines. The Sh2 and Bt2 genes presented upregulated expression levels in leaf and endosperm tissue. The highest expression level of these two genes in leaf tissues was observed in UM 1 with 6.96 fold and in UM 11 …

A Positive Feedback Loop Of Hippo- And C-Jun-Amino-Terminal Kinase Signaling Pathways Regulates Amyloid-Beta-Mediated Neurodegeneration, Madison Irwin, Meghana Tare, Aditi Singh, Oorvashi Roy Puli, Neha Gogia, Matthew Riccetti, Prajakta Deshpande, Madhuri Kango-Singh, Amit Singh

Biology Faculty Publications

Alzheimer's disease (AD, OMIM: 104300) is an age-related disorder that affects millions of people. One of the underlying causes of AD is generation of hydrophobic amyloid-beta 42 (Aβ42) peptides that accumulate to form amyloid plaques. These plaques induce oxidative stress and aberrant signaling, which result in the death of neurons and other pathologies linked to neurodegeneration. We have developed a Drosophila eye model of AD by targeted misexpression of human Aβ42 in the differentiating retinal neurons, where an accumulation of Aβ42 triggers a characteristic neurodegenerative phenotype. In a forward deficiency screen to look for genetic modifiers, we identified a molecularly …

Probing The Function Of Long Noncoding Rnas In The Nucleus, Sajal Medha K. Akkipeddi , '20, A. J. Velleca, Dawn M. Carone

Biology Faculty Works

The nucleus is a highly organized and dynamic environment where regulation and coordination of processes such as gene expression and DNA replication are paramount. In recent years, noncoding RNAs have emerged as key participants in the regulation of nuclear processes. There are a multitude of functional roles for long noncoding RNA (lncRNA), mediated through their ability to act as molecular scaffolds bridging interactions with proteins, chromatin, and other RNA molecules within the nuclear environment. In this review, we discuss the diversity of techniques that have been developed to probe the function of nuclear lncRNAs, along with the ways in which …

Mitochondrial Dna Diversity And Evolutionary History Of Native Human Populations Of Northwest Patagonia (Argentina), María Bárbara Postillone, Virginia Agustina Cobos, Celmira Urrutia, Cristina Beatriz Dejean, Paula N. Gonzalez, Sergio Ivan Perez, Valeria Bernal

Human Biology Open Access Pre-Prints

The genetic composition of Amerindian descendants from Patagonia has long been a focus of interest, although the information available is still scarce for many geographic areas. Here, we report the first analysis of the variation in the mtDNA control region for an area of northwestern Patagonia, the North of Neuquén, with the aim of studying the processes and historical events that modeled the evolutionary history of these human groups. We analyzed 113 individuals from two localities of northern Neuquén, along with 6 from southern Neuquén and 223 mtDNA sequences previously published from neighboring areas from Argentina and Chile. We estimated …

The Bacillus Subtilis K-State Promotes Stationary-Phase Mutagenesis Via Oxidative Damage, Holly A. Martin, Amanda A. Kidman, Jillian Socea, Carmen Vallin, Mario Pedraza-Reyes, Eduardo A. Robleto

Life Sciences Faculty Research

Bacterial cells develop mutations in the absence of cellular division through a process known as stationary-phase or stress-induced mutagenesis. This phenomenon has been studied in a few bacterial models, including Escherichia coli and Bacillus subtilis; however, the underlying mechanisms between these systems differ. For instance, RecA is not required for stationary-phase mutagenesis in B. subtilis like it is in E. coli. In B. subtilis, RecA is essential to the process of genetic transformation in the subpopulation of cells that become naturally competent in conditions of stress. Interestingly, the transcriptional regulator ComK, which controls the development of competence, does influence the …