Genetics and Genomics Commons^™

Comparative Genomics, Transcriptomics, And Physiology Distinguish Symbiotic From Free-Living Chlorella Strains, Cristian F. Quispe, Olivia Sonderman, Maya Khasin, Wayne R. Riekhof, James L. Van Etten, Kenneth Nickerson

Kenneth Nickerson Papers

Most animal–microbe symbiotic interactions must be advantageous to the host and provide nutritional benefits to the endosymbiont. When the host provides nutrients, it can gain the capacity to control the interaction, promote self-growth, and increase its fitness. Chlorella-like green algae engage in symbiotic relationships with certain protozoans, a partnership that significantly impacts the physiology of both organisms. Consequently, it is often challenging to grow axenic Chlorella cultures after isolation from the host because they are nutrient fastidious and often susceptible to virus infection. We hypothesize that the establishment of a symbiotic relationship resulted in natural selection for nutritional and metabolic …

Cloning, Characteristics, And Functional Analysis Of Rabbit Nadph Oxidase 5, Feng Chen, Caiyong Yin, Christiana Dimitropoulou, David J.R. Fulton

Bioelectrics Publications

Background: Nox5 was the last member of the Nox enzyme family to be identified. Functionally distinct from the other Nox isoforms, our understanding of its physiological significance has been hampered by the absence of Nox5 in mouse and rat genomes. Nox5 is present in the genomes of other species such as the rabbit that have broad utility as models of cardiovascular disease. However, the mRNA sequence, characteristics, and functional analysis of rabbit Nox5 has not been fully defined and were the goals of the current study.

Methods: Rabbit Nox5 was amplified from rabbit tissue, cloned, and sequenced. COS-7 cells were …

Large Deletions At The Shox Locus In The Pseudoautosomal Region Are Associated With Skeletal Atavism In Shetland Ponies, Nima Rafati, Lisa S. Andersson, Sofia Mikko, Chungang Feng, Terje Raudsepp, Jessica Pettersson, Jan Janecka, Ove Wattle, Adam Ameur, Gunilla Thyreen, John E. Eberth, John Huddleston, Maika Malig, Ernest Bailey, Evan E. Eichler, Göran Dalin, Bhanu Chowdary, Leif Andersson, Gabriella Lindgren, Carl-Johan Rubin

Maxwell H. Gluck Equine Research Center Faculty Publications

Skeletal atavism in Shetland ponies is a heritable disorder characterized by abnormal growth of the ulna and fibula that extend the carpal and tarsal joints, respectively. This causes abnormal skeletal structure and impaired movements, and affected foals are usually killed. In order to identify the causal mutation we subjected six confirmed Swedish cases and a DNA pool consisting of 21 control individuals to whole genome resequencing. We screened for polymorphisms where the cases and the control pool were fixed for opposite alleles and observed this signature for only 25 SNPs, most of which were scattered on genome assembly unassigned scaffolds. …

Distribution Of Genomic Variation In The Usda Soybean Germplasm Collection And Relationship With Phenotypic Variation, Nonoy Batiller Bandillo

Department of Agronomy and Horticulture: Dissertations, Theses, and Student Research

The USDA Soybean Germplasm Collection harbors a large stock of genetic diversity with potential to accelerate soybean cultivar development. The extent and nature of favorable alleles contained in the collection are not well known nor is the distribution of genetic variation and how it relates to phenotypic variation. The genotyping of the entire USDA Soybean Germplasm Collection marked the beginning of a systematic exploration of genetic diversity for genetic research and breeding. In this research, we conducted the first comprehensive analysis of population structure on the collection of ~14,400 soybean accessions [Glycine max (L.) Merr. and G. soja Siebold …

An Informatics Research Agenda To Support Precision Medicine: Seven Key Areas., Jessica D Tenenbaum, Paul Avillach, Marge Benham-Hutchins, Matthew K Breitenstein, Erin L Crowgey, Mark A Hoffman, Xia Jiang, Subha Madhavan, John E Mattison, Radhakrishnan Nagarajan, Bisakha Ray, Dmitriy Shin, Shyam Visweswaran, Zhongming Zhao, Robert R Freimuth

Manuscripts, Articles, Book Chapters and Other Papers

The recent announcement of the Precision Medicine Initiative by President Obama has brought precision medicine (PM) to the forefront for healthcare providers, researchers, regulators, innovators, and funders alike. As technologies continue to evolve and datasets grow in magnitude, a strong computational infrastructure will be essential to realize PM's vision of improved healthcare derived from personal data. In addition, informatics research and innovation affords a tremendous opportunity to drive the science underlying PM. The informatics community must lead the development of technologies and methodologies that will increase the discovery and application of biomedical knowledge through close collaboration between researchers, clinicians, and …

High-Throughput Screening Of Clinically Approved Drugs That Prime Polyethylenimine Transfection Reveals Modulation Of Mitochondria Dysfunction Response Improves Gene Transfer Efficiencies, Albert Nguyen, Jared P. Beyersdorf, Jean-Jack Riethoven, Angela K. Pannier

Department of Agricultural and Biological Systems Engineering: Faculty Publications

Nonviral gene delivery methods are advantageous over viral vectors in terms of safety, cost, and flexibility in design and application, but suffer from lower gene transfer efficiency. In addition to modifications to nucleic acid design and nonviral carriers, new tools are sought to enhance transfection. Priming is the pharmacological modulation of transfection efficiency and transgene expression, and has demonstrated transfection increase in several compounds, for example, chloroquine and glucocorticoids. To develop a library of transfection priming compounds, a highthroughput screen was performed of the NIH Clinical Collection (NCC) to identify clinical compounds that prime polyethylenimine (PEI) transfection. HEK293T cells were …

The Maintenance Of Phenotypic Divergence Through Sexual Selection: An Experimental Study In Barn Swallows Hirundo Rustica, Rebecca Safran, Yoni Vortman, Brittany R. Jenkins, Joanna K. Hubbard, Matt Wilkins, Rachel J. Bradley, Arnon Lotem

School of Biological Sciences: Faculty Publications

Previous studies have shown that sexual signals can rapidly diverge among closely related species. However, we lack experimental studies to demonstrate that differences in trait-associated reproductive performance maintain sexual trait differences between closely related populations, in support for a role of sexual selection in speciation. Populations of Northern Hemisphere distributed barn swallows Hirundo rustica are closely related, yet differ in two plumage-based traits: ventral color and length of the outermost tail feathers (streamers). Here we provide experimental evidence that manipulations of these traits result in different reproductive consequences in two subspecies of barn swallow: (H. r. erythrogaster in North …

Selfish Mutations: The Genetic Basis Of The Paternal Age Effect, Eoin C. Whelan

Biological Sciences Theses & Dissertations

As the mean age of childrearing grows, the effect of parental age on genetic disease and child health becomes ever more important. A number of autosomal dominant disorders show a dramatic paternal age effect due to selfish mutations: substitutions that grant spermatogonial stem cells (SSCs) a selective advantage in the testes of the father but have a deleterious effect in offspring.

I present a mathematical model to analyse the normal function of the stem cell compartment, which provides a framework for SSC renewal and accommodates differences between animal systems. In order to model the SSC mutation accumulation, a Markov chain …

Unaffected Women’S Decisions To Have Prophylactic Risk-Reducing Mastectomies, Stephanie N. Galloway

Theses and Dissertations

When a woman is at an increased risk of developing breast cancer due to a pathogenic mutation or a significant family history of the disease, she will be faced with choosing from among multiple management options, including risk-reducing mastectomy (RRM). The relative rate of RRM for both diagnosed and unaffected high-risk women has increased in recent years. Previous research has investigated the factors that influence women diagnosed with the disease to undergo RRM, but has not fully addressed how unaffected women make their decisions to choose RRM as an option when they are still healthy. This study was designed to …

Reflections On The Current State Of Healthcare Transition For Young Adult Women With Turner Syndrome: Strategies For Facilitating Autonomy And Self-Management, Molly Elizabeth Snyder

Theses and Dissertations

The transition to adult-centered healthcare is a critical period for emerging adults, especially those with special healthcare needs (SHCNs). Considering the ongoing medical monitoring necessary for women with Turner syndrome (TS), it is essential that the transition process be comprehensive and well-coordinated. The aims of this study were to invite young women with TS to reflect on their healthcare transition experiences, to explore participants’ perceived control of their medical management, and to identify ways in which genetic counselors can be involved in multidisciplinary healthcare teams. The hypotheses were that young women with TS are motivated to learn more about their …

Genetic Counseling For Alcohol Use Disorder: Assessment Of Need In Affected And At-Risk Populations, Fayth Michelle Kalb

Theses and Dissertations

Introduction: Alcohol use disorder (AUD) is highly heritable, yet there has been no investigation regarding the possible benefits of genetic counseling for AUD. This study assessed the beliefs individuals with and at risk for AUD have regarding recurrence risk and etiology of AUD, how the presence of the condition in themselves or their family history has affected their lifestyle decisions, and potential benefit from AUD genetic counseling. Methods: An online questionnaire was distributed through social media to support groups for AUD inviting adults 18 years and older with a personal or family history of AUD. Results: Of the 122 individuals …

Re-Contacting Cancer Genetic Counseling Patients: Expectations Of Patients And Physicians, Zoe Elizabeth Siegel

Theses and Dissertations

The landscape of cancer genetic counseling and testing is rapidly evolving. Genetic testing technology is improving, management guidelines are evolving, and genetic testing options are expanding. These frequent updates to the components of cancer genetics have increased the complexity of managing patient care over time. In particular, this raises questions on the duty to re-contact patients as new information becomes available. This study explored healthcare providers’ duty to re-contact through the interests and expectations of patients, including which circumstances warrant re-contacting, which healthcare provider is responsible for re-contacting the patient, and the preferred method of re-contacting. Physicians’ opinions on whether …

Heterologous Expression Of Pantoea Agglomerans Phytase Gene Optimized For Plant-Host Expression, N. N. Khabipova, L. R. Valeeva, I. B. Chastukhina, M. R. Sharipova, Eugene V. Shakirov

Biological Sciences Faculty Research

Here we report expression and characterization of recombinant bacterial phytase PaPhyC from Pantoea sp. Codon-optimized phytase gene was expressed E.coli BL21 pLysS and protein expression was confirmed by Western blotting. Recombinant protein expressed in E.coli has high phytase activity. We show that PaPhyC recombinant phytase has different molecular masses when expressed in bacteria and plants, suggesting that possible protein glycosylation in plants may influence its overall size.

The Undiagnosed Patient And The Diagnostic Odyssey: Current Genetic Counseling Practices And Perspectives, Amelia Cordell Wardyn

Theses and Dissertations

Patients seen in genetics clinics often endure a diagnostic odyssey in their search for answers for their medical symptoms. This time is not only challenging for patients and their families, but also for the genetic counselors who are trying to help the patients. Previous research has shown that parents of children with undiagnosed medical disorders have specific goals and reasons for wanting to find a diagnosis, and there are many difficulties faced by these parents. Genetic counselors often serve as a prominent figure during the diagnostic odyssey, but little known research has assessed the current practices of and impact that …

Parents’ Understanding Of Sensory Processing In Their Child With Autism Spectrum Disorder, Katelynn M. Anderson

Theses and Dissertations

Purpose: The purpose of this study was to assess the need and desire of parents of children with Autism Spectrum Disorder (ASD) to receive sensory processing disorder (SPD) education. We hoped to identify misconceptions of parents about sensory processing and examined the utility of providing information on SPDs to these parents within the genetic counseling session. Methods: Invitations to participate were sent to support groups in the Southeast United States. A survey tool was used to obtain demographic information. A short presentation was given to clarify the definition of sensory processing, give examples of signs and symptoms of SPDs, and …

The Effects Of Personal And Family History Of Cancer On The Development Of Dementia In Japanese Americans: The Kame Project, Adam Lee Slotnick

USF Tampa Graduate Theses and Dissertations

An increasing number of studies have shown an inverse association between a personal history of cancer (PHC) and dementia/Alzheimer’s disease (AD), both in those using dementia/AD as the outcome or cancer as the outcome. This is the first study to examine this potential association in Japanese Americans; and to examine family history of cancer and its association with incident dementia. Also, the association between these two diseases in the parents of participants were analyzed.

The Kame Project, conducted from 1992 through 2001 in King County, Washington was a population-based, prospective cohort study of older Japanese Americans. Conversion to incident dementia …

Divergent Activity Of The Gonadotropin Releasing Hormone Receptor Gene Promoter Among Genetic Lines Of Pigs Is Partially Conferred By Nuclear Factor (Nf)-Kb, Specificity Protein (Sp)1-Like And Gata-4 Binding Sites, Emily A. Mcdonald, Jacqueline E. Smith, Rebecca A. Cederberg, Brett R. White

Department of Animal Science: Faculty Publications

BACKGROUND: Binding of gonadotropin-releasing hormone (GnRH) to its receptor (GnRHR) on gonadotropes within the anterior pituitary gland is essential to reproduction. In pigs, the GnRHR gene is also located near a genetic marker for ovulation rate, a primary determinant of prolificacy. We hypothesized that pituitary expression of the GnRHR gene is alternatively regulated in genetic strains with elevated ovulation rates (Chinese Meishan and Nebraska Index) vs. standard white crossbred swine (Control).

METHODS: Luciferase reporter vectors containing 5118 bp of GnRHR gene promoter from either the Control, Index or Meishan swine lines were generated. Transient transfection of line-specific, full length, deletion …

Heterologous Expression Of A Rice Mir395 Gene In Nicotiana Tabacum Impairs Sulfate Homeostasis, Ning Yuan, Shuangrong Yuan, Zhigang Li, Dayong Li, Qian Hu, Hong Luo

Publications

Sulfur participates in many important mechanisms and pathways of plant development. The most common source of sulfur in soil –SO₄²⁻– is absorbed into root tissue and distributed into aerial part through vasculature system, where it is reduced into sulfite and finally sulfide within the subcellular organs such as chloroplasts and mitochondria and used for cysteine and methionine biosynthesis. MicroRNAs are involved in many regulation pathways by repressing the expression of their target genes. MiR395 family in Arabidopsis thaliana has been reported to be an important regulator involved in sulfate transport and assimilation, and a high-affinity sulphate transporter …

Diversity And Distribution Of Diatom Endosymbionts In Amphistegina Spp. (Foraminifera) Based On Molecular And Morphological Techniques, Kwasi H. Barnes

USF Tampa Graduate Theses and Dissertations

Diatoms associated with foraminifers of the genus Amphistegina were assessed using a combination of morphological and molecular techniques. These included: 1) microscopic identification of diatoms cultured from the host, 2) sequencing of portions of the small subunit of the ribosomal RNA gene (18S) and the large subunit of the ribulose-1,5-bisphosphate carboxylase/oxygenase [i.e., RubisCO] gene (rbcL) from DNA extracted directly from the Amphistegina hosts and also from diatoms cultured from these hosts, and 3) denaturing gradient gel electrophoresis (DGGE) profiles of rbcL and internal transcribed spacer 1 (ITS1) PCR amplicons from DNA extracted directly from …

Cellular And Molecular Features Of Developmentally Programmed Genome Rearrangement In A Vertebrate (Sea Lamprey: Petromyzon Marinus), Vladimir A. Timoshevskiy, Joseph R. Herdy, Melissa C. Keinath, Jeramiah J. Smith

Biology Faculty Publications

The sea lamprey (Petromyzon marinus) represents one of the few vertebrate species known to undergo large-scale programmatic elimination of genomic DNA over the course of its normal development. Programmed genome rearrangements (PGRs) result in the reproducible loss of ~20% of the genome from somatic cell lineages during early embryogenesis. Studies of PGR hold the potential to provide novel insights related to the maintenance of genome stability during the cell cycle and coordination between mechanisms responsible for the accurate distribution of chromosomes into daughter cells, yet little is known regarding the mechanistic basis or cellular context of PGR in …

A Cell Cycle-Regulated Toxoplasma Deubiquitinase, Tgotud3a, Targets Polyubiquitins With Specific Lysine Linkages, Animesh Dhara, Anthony P. Sinai

Microbiology, Immunology, and Molecular Genetics Faculty Publications

The contribution of ubiquitin-mediated mechanisms in the regulation of the Toxoplasma gondii cell cycle has remained largely unexplored. Here, we describe the functional characterization of a T. gondii deubiquitinase (TGGT1_258780) of the ovarian-tumor domain-containing (OTU) family, which, based on its structural homology to the human OTUD3 clade, has been designated TgOTUD3A. The TgOTUD3A protein is expressed in a cell cycle-dependent manner mimicking its mRNA expression, indicating that it is regulated primarily at the transcriptional level. TgOTUD3A, which was found in the cytoplasm at low levels in G₁ parasites, increased in abundance with the progression of the …

Alcohol Discrimination And Preferences In Two Species Of Nectar-Feeding Primate, Samuel R. Gochman, Michael B. Brown, Nathaniel J. Dominy

Dartmouth Scholarship

Recent reports suggest that dietary ethanol, or alcohol, is a supplemental source of calories for some primates. For example, slow lorises (Nycticebus coucang) consume fermented nectars with a mean alcohol concentration of 0.6% (range: 0.0–3.8%). A similar behaviour is hypothesized for aye-ayes (Daubentonia madagascariensis) based on a single point mutation (A294V) in the gene that encodes alcohol dehydrogenase class IV (ADH4), the first enzyme to catabolize alcohol during digestion. The mutation increases catalytic efficiency 40-fold and may confer a selective advantage to aye-ayes that consume the nectar of Ravenala madagascariensis. It is uncertain, however, whether alcohol exists in this nectar …

Loss Of Cell Adhesion Increases Tumorigenic Potential Of Polarity Deficient Scribble Mutant Cells, Indrayani Waghmare, Madhuri Kango-Singh

Biology Faculty Publications

Epithelial polarity genes are important for maintaining tissue architecture, and regulating growth. The Drosophila neoplastic tumor suppressor gene scribble (scrib) belongs to the basolateral polarity complex. Loss of scrib results in disruption of its growth regulatory functions, and downregulation or mislocalization of Scrib is correlated to tumor growth. Somatic scribble mutant cells (scrib-) surrounded by wild-type cells undergo apoptosis, which can be prevented by introduction of secondary mutations that provide a growth advantage. Using genetic tools in Drosophila, we analyzed the phenotypic effects of loss of scrib in different growth promoting backgrounds. We investigated if a central …

De Novo Deciphering Three-Dimensional Chromatin Interaction And Topological Domains By Wavelet Transformation Of Epigenetic Profiles., Yong Chen, Yunfei Wang, Zhenyu Xuan, Min Chen, Michael Q Zhang

College of Science & Mathematics Departmental Research

Defining chromatin interaction frequencies and topological domains is a great challenge for the annotations of genome structures. Although the chromosome conformation capture (3C) and its derivative methods have been developed for exploring the global interactome, they are limited by high experimental complexity and costs. Here we describe a novel computational method, called CITD, for de novo prediction of the chromatin interaction map by integrating histone modification data. We used the public epigenomic data from human fibroblast IMR90 cell and embryonic stem cell (H1) to develop and test CITD, which can not only successfully reconstruct the chromatin interaction frequencies discovered by …

Diversity, Structure And Convergent Evolution Of The Global Sponge Microbiome, Torsten Thomas, Lucas Moitinho-Silva, Miguel Lurgi, Johannes R. Bjork, Cole Easson, Carmen Astudillo-Garcia, Julie B. Olson, Patrick M. Erwin, Susanna Lopez-Legentil, Heidi Luter, Andia Chaves Fonnegra, Rodrigo Costa, Peter J. Schupp, Laura Steindler, Dirk Erpenbeck, Jack Gilbert, Rob Knight, Gail Ackermann, Jose V. Lopez, Michael W. Taylor, Robert W. Thacker, Jose M. Montoya, Ute Hentschel, Nicole S. Webster

Marine & Environmental Sciences Faculty Articles

Sponges (phylum Porifera) are early-diverging metazoa renowned for establishing complex microbial symbioses. Here we present a global Porifera microbiome survey, set out to establish the ecological and evolutionary drivers of these host–microbe interactions.We show that sponges are a reservoir of exceptional microbial diversity and major contributors to the total microbial diversity of the world’s oceans. Little commonality in species composition or structure is evident across the phylum, although symbiont communities are characterized by specialists and generalists rather than opportunists. Core sponge microbiomes are stable and characterized by generalist symbionts exhibiting amensal and/or commensal interactions. Symbionts that are phylogenetically unique to …

Duplication And Remolding Of Trna Genes In The Mitochondrial Genome Of Reduvius Tenebrosus (Hemiptera: Reduviidae), Pei Jiang, Hu Li, Fan Song, Yao Cai, Jianyun Wang, Jinpeng Liu, Wanzhi Cai

Markey Cancer Center Faculty Publications

Most assassin bugs are predators that act as important natural enemies of insect pests. Mitochondrial (mt) genomes of these insects are double-strand circular DNAs that encode 37 genes. In the present study, we explore the duplication and rearrangement of tRNA genes in the mt genome of Reduvius tenebrosus, the first mt genome from the subfamily Reduviinae. The gene order rearranges from CR (control region)-trnI-trnQ-trnM-ND2 to CR-trnQ-trnI2-trnI1-trnM-ND2. We identified 23 tRNA genes, including 22 tRNAs commonly found in insects and an additional trnI (trnI2), which has high sequence similarity to trnM. We found several …

Description Of Mesocriconema Ericaceum N. Sp. (Nematoda: Criconematidae) And Notes On Other Nematode Species Discovered In An Ericaceous Heath Bald Community In Great Smoky Mountains National Park, Usa, Thomas O. Powers, Peter Mullin, Rebecca Higgins, Timothy Harris, Kirsten S. Powers

Department of Plant Pathology: Faculty Publications

A new species of Mesocriconema and a unique assemblage of plant-parasitic nematodes was discovered in a heath bald atop Brushy Mountain in Great Smoky Mountains National Park. Mesocriconema ericaceum n. sp., a species with males, superficially resembles M. xenoplax. DNA barcoding with the mitochondrial COI gene provided evidence of the new species as a distinct lineage. SEM revealed significant variability in arrangement of labial submedian lobes, plates, and anterior and posterior annuli. Three other nematodes in the family Criconematidae were characterized from the heath bald. Ogma seymouri, when analyzed by statistical parsimony, established connections with isolates from north-eastern Atlantic …

Impeding Access To Quality Patient Care And Patient Rights: How Myriad Genetics' Gene Patents Are Unknowingly Killing Cancer Patients And How To Calm The Ripple Effect, Marisa Noelle Pins

Journal of Intellectual Property Law

No abstract provided.

Confirmation Of The Function Of Mrub1080 As Γ-Glutamyl Kinase (Prob) In Meiothermus Ruber, Cale J. Mccormick, Dr. Lori Scott

Celebration of Learning

This project is part of the Meiothermus ruber genome analysis project, which uses wet lab procedures and computational analysis to gather evidence of orthologous genes between Escherichia coli and Meiothermus ruber. In previous work, bioinformatics evidence supported the hypothesis that the gene Mrub1080 was an ortholog of E. coli proB. We investigated the biological function of Meiothermus ruber genes proB and proBA using the complementation assay. However, functional analysis proved inconclusive. For this particular research project, we confirmed that weakly complementing E. coli proB- null strains actually contained the desired M. ruber proB and proBA genes (inserted into a pKt1 …

Splice-Switching Antisense Oligonucleotides As Therapeutic Drugs, Mallory A. Havens, Michelle L. Hastings

Biology Department Faculty Articles

Splice-switching oligonucleotides (SSOs) are short, synthetic, antisense, modified nucleic acids that base-pair with a pre-mRNA and disrupt the normal splicing repertoire of the transcript by blocking the RNA–RNA base-pairing or protein–RNA binding interactions that occur between components of the splicing machinery and the pre-mRNA. Splicing of pre-mRNA is required for the proper expression of the vast majority of protein-coding genes, and thus, targeting the process offers a means to manipulate protein production from a gene. Splicing modulation is particularly valuable in cases of disease caused by mutations that lead to disruption of normal splicing or when interfering with the normal …