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Genetics

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Full-Text Articles in Life Sciences

Genetic And Functional Approaches To Understanding Autoimmune And Inflammatory Pathologies, Abbas Raza Jan 2020

Genetic And Functional Approaches To Understanding Autoimmune And Inflammatory Pathologies, Abbas Raza

Graduate College Dissertations and Theses

Our understanding of genetic predisposition to inflammatory and autoimmune diseases has been enhanced by large scale quantitative trait loci (QTL) linkage mapping and genome-wide association studies (GWAS). However, the resolution and interpretation of QTL linkage mapping or GWAS findings are limited. In this work, we complement genetic predictions for several human diseases including multiple sclerosis (MS) and systemic capillary leakage syndrome (SCLS) with genetic and functional data in model organisms to associate genes with phenotypes and diseases.

Focusing on MS, an autoimmune inflammatory disease of the central nervous system (CNS), we experimentally tested the effect of three of the GWAS ...


Chasing The Genetics Of Ascites In Broilers Using Whole Genome Resequencing, Alia Parveen Dec 2019

Chasing The Genetics Of Ascites In Broilers Using Whole Genome Resequencing, Alia Parveen

Theses and Dissertations

We are using whole genome resequencing to identify chromosomal regions associated with resistance or susceptibility to ascites, a form of pulmonary hypertension syndrome, meat-type chickens. Previous Genome Wide Association Studies (GWAS) based on Single Nucleotide Polymorphisms (SNPs) have identified regions on chromosomes 2, 9 and Z. Despite several GWAS and further genotyping, there are no reliable or potential markers for ascites phenotype. We have completed screening of Copy Number Variations (CNVs) and Single Nucleotide Polymorphisms in ascites resistant and susceptible birds from the relaxed, REL, line derived from a commercial elite broiler line. DNA samples from resistant and susceptible birds ...


The Effects Of Foot And Udder Scoring On Cow And Calf Performance, Clayton Lee Mcguire Dec 2019

The Effects Of Foot And Udder Scoring On Cow And Calf Performance, Clayton Lee Mcguire

Theses and Dissertations

Foot soundness and udder conformation are essential for longevity in beef cattle. The objective of this study was to investigate the effects of foot angle (FA), claw set (CS), teat size (TS) and udder suspension (US) scores on cowherd performance. Data were analyzed for 1,685 observations on Angus-based cows over a four-year period. At weaning FA, CS, TS, and US were evaluated. Scores are based on nine-point scales. A score of one indicates straight pasterns, divergent toes, enlarged bottle shaped teats, and absence of a median suspensory ligament; nine indicates weak pasterns, curled toes, small symmetrical teats, and a ...


Genetic Crosstalk And Its Effects On Virulence And Mating In Ustilago Maydis., John S. Desmarais May 2019

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

College of Arts & Sciences Senior Honors 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, the focus ...


Using Genetic Diversity To Understand Susceptibility To Cognitive Decline In Aging And Alzheimer’S Disease, Sarah M. Neuner May 2019

Using Genetic Diversity To Understand Susceptibility To Cognitive Decline In Aging And Alzheimer’S Disease, Sarah M. Neuner

Theses and Dissertations (ETD)

An individual's genetic makeup plays an important role in determining susceptibility to cognitive aging and transition to dementia such as Alzheimer's disease (AD). Identifying the specific genetic variants that contribute to cognitive aging and AD may aid in early diagnosis of at-risk patients, as well as identify novel therapeutics targets to treat or prevent development of symptoms. Challenges to identifying these specific genes in human studies include complex genetics, difficulty in controlling environmental factors, and limited access to human brain tissue. Here, we turned to genetically diverse mice from the BXD genetic reference panel (GRP) to overcome some ...


The Role Of T-Cell Lymphoma Invasion And Metastasis 2 (Tiam2) In The Barrier Function Of Mammary Epithelial Cells Following Streptococcus Uberis Inoculation, Catherine E. Donnell May 2019

The Role Of T-Cell Lymphoma Invasion And Metastasis 2 (Tiam2) In The Barrier Function Of Mammary Epithelial Cells Following Streptococcus Uberis Inoculation, Catherine E. Donnell

Chancellor’s Honors Program Projects

No abstract provided.


Computational Strategies To Investigate The Genetic Cause Of Human Eye Disease, Wesley Andrew Goar May 2019

Computational Strategies To Investigate The Genetic Cause Of Human Eye Disease, Wesley Andrew Goar

Theses and Dissertations

It is estimated that 4000 genetic diseases/syndromes affect humans with one third of these diseases involving the eye. Many eye disorders, such as age-related macular degeneration that affects an estimated 170 million elderly adults worldwide, are associated with genetic variants. Since the conception of the human genome project we have learned a great deal about the genetic make-up of the human race and have identified over ~20,000 genes. Over 270 of these genes have been implicated in retinal diseases alone with many more genes involved in other forms of ocular disease. Though we have made a great deal ...


X-Inactivation And Epigenetics, Serena Weston Apr 2019

X-Inactivation And Epigenetics, Serena Weston

Thinking Matters Symposium

To prevent abnormal development caused by expressing both X chromosomes, female mammals inactivate one of their X chromosomes using an epigenetic process called dosage compensation. This literature review examines how X chromosome inactivation (XCI) occurs during the formation and development of an embryo. This condensation of DNA is marked by histone tail modifications, DNA methylation, and the arrival of structural proteins resulting in extraordinarily stable heterochromatin. X-inactivation is regulated in cis by the X-inactivation center (Xic) that contains the Xist gene and its antisense gene, Tsix. On one X chromosome, Xist RNA is expressed and coats the center of the ...


The Influence Of Stressful Life Events On The Development Of Type 2 Diabetes, Joshua Minks Mar 2019

The Influence Of Stressful Life Events On The Development Of Type 2 Diabetes, Joshua Minks

Dissertations

This study examined the relationship between distress and the development of Type 2 diabetes mellitus (T2DM) in the presence of established risk factors. Distress secondary to mental health disparities, stressful life events, and work conditions has been shown to promote insulin resistance and the development of T2DM.

Subjects (N=79) diagnosed with T2DM within the previous six months were recruited from SSM Health Centers and VA Medical Centers in the greater St. Louis area. They completed the Recent Life Changes Questionnaire, ENRICHD Social Support Instrument, and a demographic survey and analyses were conducted to determine differences between the veteran and ...


Phylogenetic History Of The Amy Gene Cluster In Catarrhines, Christian M. Gagnon Feb 2019

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

School of Arts & Sciences Theses

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.


A Trio Of Sigma Factors Control Hormogonium Development In Nostoc Punctiforme, Alfonso Gonzalez Jr. Jan 2019

A Trio Of Sigma Factors Control Hormogonium Development In Nostoc Punctiforme, Alfonso Gonzalez Jr.

University of the Pacific Theses and Dissertations

Cyanobacteria are prokaryotes capable of oxygenic photosynthesis, and for many species, nitrogen fixation, giving cyanobacteria an important role in global carbon and nitrogen cycles. Furthermore, multicellular filamentous cyanobacteria are developmentally complex, capable of differentiation into different cell types, including cells capable of nitrogen fixation and cells for motility, making them an ideal platform for studying development, as well as for practical use in biotechnology. Understanding how developmental programmes are activated require an understanding of the role of alternative sigma factors, which are required for transcriptional activation in bacteria. In order to investigate the gene regulatory network and to determine the ...


Genome-Wide Systems Genetics Of Alcohol Consumption And Dependence, Kristin Mignogna Jan 2019

Genome-Wide Systems Genetics Of Alcohol Consumption And Dependence, Kristin Mignogna

Theses and Dissertations

Widely effective treatment for alcohol use disorder is not yet available, because the exact biological mechanisms that underlie this disorder are not completely understood. One way to gain a better understanding of these mechanisms is to examine the genetic frameworks that contribute to the risk for developing this disorder. This dissertation examines genetic association data in combination with gene expression networks in the brain to identify functional groups of genes associated with alcohol consumption and dependence.

The first study took advantage of the behavioral complexity of human samples, and experimental capabilities provided by mouse models, by co-analyzing gene expression networks ...


Genetic Insights Into Latent Autoimmune Diabetes In Adults, Rajashree Mishra Jan 2019

Genetic Insights Into Latent Autoimmune Diabetes In Adults, Rajashree Mishra

Publicly Accessible Penn Dissertations

‘Latent autoimmune diabetes in adults’ (LADA) is a controversial subtype of diabetes characterized by initial insulin independency and the presence of diabetes associated autoantibodies. As a result, LADA is often misclassified and can represent 5-10% of apparent type 2 diabetes (T2D) cases and is potentially more prevalent than childhood-onset type 1 diabetes (T1D). Despite LADA sharing features with the two better characterized classic diabetes subtypes, the genetic etiology of LADA remains largely unknown. Once there is a more accurate definition of LADA, there will be an improvement in diabetes classification and consequently better treatment and therapeutic interventions. The objective of ...


Genotyping For Response To Physical Training, Stacy Simmons Jan 2019

Genotyping For Response To Physical Training, Stacy Simmons

Browse all Theses and Dissertations

Understanding the inter-individual variability in physical fitness performance has been the focus of scientific research for decades especially in the United States military. Injury and physical inadequacy cost the U.S military millions of dollars every year. The project PHITE (Precision High Intensity Training through Epigenetics) was funded to investigate this personal complex trait by combing the genetic and epigenetic (non-shared environmental factors) contributions into a single model for physical training response. This project is set up as having 150 male and female recruits between the ages of 18-27 years old. Each participant is randomly put blind into either a ...


Crispr-Cas Technology For Plant Breeding, Tiffani Hull Jan 2019

Crispr-Cas Technology For Plant Breeding, Tiffani Hull

Creative Components

Clustered regularly interspaced short palindromic repeats, or CRISPR, is a relatively new gene-editing technology that has the possibility of making a large impact to plant breeding. This paper will introduce how the CRIPSR system works, and will give a few examples of how the technology is currently being used in plant breeding. It will also look at the current regulatory systems and how that might affect the use of CRISPR technology in our food system. Finally, this paper will look at consumer acceptance of GMOs; how GMOs have been perceived in the past, and what learnings we can take as ...


Evidence-Based Practice Self-Study Education Program For Staff Nurses On Genomics, Nancy L. Norman-Marzella Jan 2019

Evidence-Based Practice Self-Study Education Program For Staff Nurses On Genomics, Nancy L. Norman-Marzella

Walden Dissertations and Doctoral Studies

Nurses routinely obtain genomic data when collecting family health histories. However, they report low confidence in their knowledge and understanding of genomics and the genetically engineered medications prescribed for their patients. The purpose of this project was the development and implementation of an evidence-based online education program about genetics and genomics to increase the nurses' understanding and ability to provide competent care for their patients receiving treatments based on the science of genomics. Knowles's principles of adult learning theory guided the development and delivery of the online education project to 12 medical-surgical registered nurses employed in a hospital in ...


Associations Between Income, Acculturation, Country Of Origin, And Type Ii Diabetes Among African Immigrants To Ontario, Canada, Girma Aman Goshe Jan 2019

Associations Between Income, Acculturation, Country Of Origin, And Type Ii Diabetes Among African Immigrants To Ontario, Canada, Girma Aman Goshe

Walden Dissertations and Doctoral Studies

Diabetes has become a longstanding public health challenge around the world. Over the last 3 decades, the number of people with Type II diabetes (T2DM) has grown to an epidemic level in Canada. Prior research indicated African immigrants residing in Ontario, Canada experienced a 2-4 times higher prevalence of T2DM than Canadian-born individuals. The social determinants of health theoretical framework guided this study assessing the relationship of the risk factors with T2DM. A quantitative, cross-sectional design was employed using the 2007-2014 Canadian Community Health Survey data. The random sample included 1,526 African immigrants residing in Ontario, Canada. Descriptive, bivariate ...


Tiger Monitoring In Bhutan Using Non-Invasive Genetic Tools, Tashi Dhendup Jan 2019

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 ...


The Role Of Tumor Suppressor Dear1 In The Acquisition Of Mammary Stem/Progenitor Cell Properties, Uyen Le Dec 2018

The Role Of Tumor Suppressor Dear1 In The Acquisition Of Mammary Stem/Progenitor Cell Properties, Uyen Le

UT GSBS Dissertations and Theses (Open Access)

Breast cancer is the most commonly diagnosed cancer in women in America. Ductal carcinoma in situ (DCIS), one of the earliest pre-invasive forms of invasive ductal carcinoma (IDC), has a 30-50% risk of progressing to IDC. Understanding the mechanisms regulating progression from DCIS to IDC would help identify biomarkers to stratify patients at higher risk of progression or metastasis. Cumulative literature suggests the earliest phase of dissemination from the primary tumor is driven by the epithelial-mesenchymal transition (EMT) program. DEAR1 is a tumor suppressor gene which is mutated, undergoes loss of heterozygosity in breast cancer, and is downregulated in DCIS ...


Evaluation Of Genetic And Environmental Influences On Broiler Meat Quality, Sara Katherine Orlowski Dec 2018

Evaluation Of Genetic And Environmental Influences On Broiler Meat Quality, Sara Katherine Orlowski

Theses and Dissertations

The effect of both genetic and environmental influences on broiler meat quality were evaluated over three experiments. Selection response was assessed for broiler lines selected for high (HBY4) and low (LBY4) four day percentage breast yield which were formed from a random bred control (RAN). A modern random bred population (MRB) created in 2015 was evaluated for differences in 4 day percentage breast yield and the resulting differences in the incidence and severity of the woody breast and white striping myopathies. Additionally, the use of embryonic thermal manipulation to impact cell division and early caloric feed restriction to slow growth ...


Linkage Mapping For Soybean (Glycine Max) Flood Tolerance, Wade Stiles Hummer Dec 2018

Linkage Mapping For Soybean (Glycine Max) Flood Tolerance, Wade Stiles Hummer

Theses and Dissertations

Flood tolerance in soybean (Glycine max) is not a well-characterized trait, yet flooding damage is second only to drought stress in terms of yield reduction. The objectives of this study were to determine genetic variation for flooding tolerance in two populations of soybean recombinant inbred lines (RILs) and to identify and confirm flood tolerant QTL. Population A (WHA) consisted of 111 RILs derived from the cross 5002T by 91210-350 and Population B (WHB) consisted of 79 RILs from the cross RA-452 by Osage. Experiments were conducted at the Rice Research and Extension Center (RREC) near Stuttgart, AR in 2015 and ...


Genome Wide Association Studies For Identification Of Markers Linked To Sucrose Traits In Sugarcane, Nathanael Darrell Fickett Oct 2018

Genome Wide Association Studies For Identification Of Markers Linked To Sucrose Traits In Sugarcane, Nathanael Darrell Fickett

LSU Doctoral Dissertations

Sugarcane, being a complex aneu-polyploid, poses unique challenges to fine mapping of quantitative trait loci (QTL) controlling agronomic traits of interest. Genome-wide association studies (GWAS) could be a better alternative to identify molecular markers associated with specific traits due to high linkage disequilibrium in sugarcane. In the first study, marker-trait associations (MTAs) were evaluated for three sucrose traits, Brix, total recoverable sugar (TRS), and percent sucrose on 48 elite and historic Louisiana breeding clones using 1,062 alleles. These sucrose traits were highly correlated (P-value < 0.0001) at >0.96. TASSEL 5.1 and JMP Genomics 8.0 were compared with eight models ...


Structural And Functional Brain Connectivity In Middle-Aged Carriers Of Risk Alleles For Alzheimer's Disease, Laura Korthauer Aug 2018

Structural And Functional Brain Connectivity In Middle-Aged Carriers Of Risk Alleles For Alzheimer's Disease, Laura Korthauer

Theses and Dissertations

Single nucleotide polymorphisms (SNPs) in APOE, COMT, BDNF, and KIBRA have been associated with age-related memory performance and executive functioning as well as risk for Alzheimer’s disease (AD). The purpose of the present investigation was to characterize differences in brain functional and structural integrity associated with these SNPs as potential endophenotypes of age-related cognitive decline. I focused my investigation on healthy, cognitively normal middle-aged adults, as disentangling the early effects of healthy versus pathological aging in this group may aid early detection and prevention of AD. The aims of the study were 1) to characterize SNP-related differences in functional ...


Hpa Axis Genetic Variation And Life Stress Influences On Functional Connectivity In Resting State Networks, Tara Ann Miskovich Aug 2018

Hpa Axis Genetic Variation And Life Stress Influences On Functional Connectivity In Resting State Networks, Tara Ann Miskovich

Theses and Dissertations

Stressful or traumatic experiences are a key risk factor for developing psychopathology, primarily through the impact that chronic stress has on hypothalamic-pituitary-adrenal (HPA) axis functioning. The HPA axis regulates the stress response but can become dysregulated with chronic activation and impact brain functioning. In addition to environmental stressors, genetic variation in genes in the HPA axis appear to influence HPA axis functioning and is also related to disruption in brain functioning, particularly in the context of high life stress. The current study focused on examining potential mechanisms through which trauma and stress interacts with HPA axis genes to impact key ...


Molecular Survey For The Honey Bee Trypanosome Parasites Crithidia Mellificae And Lotmaria Passim, Mary-Kate Williams Aug 2018

Molecular Survey For The Honey Bee Trypanosome Parasites Crithidia Mellificae And Lotmaria Passim, Mary-Kate Williams

Theses and Dissertations

Honey bee populations have been fluctuating within recent years. No one cause has been attributed to colony fluctuations due to the theory that multiple stressors interact with one another to impact colony health. Consequently, microorganisms such as internal parasites of honey bees have been understudied as a contributor to colony health decline.

Molecular diagnostics were utilized to detect the presence of two honey bee trypanosome parasites, Crithidia mellificae and Lotmaria passim, in managed and feral honey bee populations from eight states in the United States (USA). Because studies on trypanosome infections are lacking in the USA, it is important to ...


Investigation Of Bacterial Taxa As Biomarkers Of Fescue Toxicosis And Heat Stress In Grazing Beef Cows, Sarah Katherine Chewning Aug 2018

Investigation Of Bacterial Taxa As Biomarkers Of Fescue Toxicosis And Heat Stress In Grazing Beef Cows, Sarah Katherine Chewning

Theses and Dissertations

Fescue toxicosis in grazing beef cattle is caused by consumption of Ergot alkaloids associated with tall fescue (toxic fescue) and is responsible for substantial economic loss to the U.S. beef industry. Cattle consuming toxic fescue suffer adverse physiological responses, such as: hyperthermia, increased respiration rate (RR), poor reproduction and growth performance. Other adverse responses to fescue toxins include the retention of a winter hair coat and vasoconstriction in the extremities, which can lead to tissue necrosis. Identifying cattle with reduced susceptibility to fescue toxins would allow for efficient use of fescue pastures; thus, the objectives of this thesis was ...


Genetic Basis For Elevated Rheumatic Heart Disease Susceptibility In Samoa, John Bowen Allen Jul 2018

Genetic Basis For Elevated Rheumatic Heart Disease Susceptibility In Samoa, John Bowen Allen

Theses and Dissertations

Rheumatic heart disease is an inflammatory heart disease that affects millions of people around the world. Especially high rates of the disease can be found in Oceania, including the island nation of Samoa. Genetic studies of immune response genes have provided insight into a possible genetic link to increased susceptibility to rheumatic heart disease, including the genes that code for the toll-like receptor (TLR) protein family. One of the functions of TLR proteins is to recognize the presence of bacteria via identification of bacterial flagella. My evaluation of a Samoan family identified a variant in the TLR-5 gene that would ...


Light-Induced Expression Of A Blue Coral Protein In An Industrial Fungus, Lindsay Tomczak Jun 2018

Light-Induced Expression Of A Blue Coral Protein In An Industrial Fungus, Lindsay Tomczak

Honors Theses

The ultimate goal of this research project is to improve the growth and structural characteristics of an Ecovative Design LLC (Green Island, NY) production strain to produce commercial biomaterials for packaging. These biomaterials are produced from renewable resources and can be easily broken down after they fulfill their purpose, unlike the commonly used materials today (such as Styrofoam). In an effort to quantify the light-reactivity of the fungus, a codon-optimized DNA sequence coding a blue chromoprotein was introduced and utilized as a visual reporter gene. Transcriptional controlling sequences were identified from orthologs to specific light-regulated genes and were combined with ...


Regulation Of The Pi3-Kinase/Pten Signaling Pathway By Tgf-Β In Prostate Cancer Cells, Mawiyah Kimbrough-Allah May 2018

Regulation Of The Pi3-Kinase/Pten Signaling Pathway By Tgf-Β In Prostate Cancer Cells, Mawiyah Kimbrough-Allah

Electronic Theses & Dissertations Collection for Atlanta University & Clark Atlanta University

Transforming growth factor -β (TGF-β) plays an important role in the progression of prostate cancer. It acts as a tumor suppressor in normal epithelial cells but as a tumor promoter in advanced prostate cancer cells. The PI3-kinase pathway has been shown to play integral roles in many cellular processes including cell proliferation, survival, and cell migration in many cell types. PI3-kinase pathway mediates TGF-β effects on prostate cancer cell migration and invasion. Phosphatase and tensin homolog (PTEN), a tumor suppressor gene, inhibits PI3-kinase pathway and is frequently mutated in prostate cancers. In this present study, we investigated possible roles of ...


Precision Health And Deafness–Optimizing Genetic Diagnosis, Christina Marie Sloan-Heggen May 2018

Precision Health And Deafness–Optimizing Genetic Diagnosis, Christina Marie Sloan-Heggen

Theses and Dissertations

Deafness is the most common sensory deficit in humans. In the United States 1-2 in a thousand babies is born with significant deafness, well over half of which is hereditary. Providing a patient and their family with a genetic diagnosis is the ultimate form of precision health and medicine; it can provide education, impact medical testing and treatment, provide peace of mind, and someday will be the key to providing gene specific therapies. Historically, providing this diagnosis was difficult, expensive, and time consuming due to the extreme clinical and genetic heterogeneity of non-syndromic hearing loss (NSHL).

Targeted genomic enrichment and ...