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Genetics

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Full-Text Articles in Life Sciences

On The Distribution Of Genetic Variation In Ecological Communities, Isaac Overcast Feb 2020

On The Distribution Of Genetic Variation In Ecological Communities, Isaac Overcast

All Dissertations, Theses, and Capstone Projects

Biodiversity in ecological communities is structured hierarchically across spatial and temporal scales. Many open questions remain as to how this structure accumulates. For example, what are the relative contributions of dispersal versus in situ speciation? Or, how important are stochastic drift versus deterministic processes? Up to this point, these questions have been investigated by isolated disciplines (e.g. macroecology, comparative phylogeography, macroevolution) using tools and data that tend to focus on only one axis of community scale data (e.g. phylogenies, relative abundances, and/or trait information). Yet we know that there are feedbacks among processes that respond on short ...


Peroxiredoxin 6 And Inflammation In Alzheimer's Disease, Jared Ferrell-Penniman Dec 2019

Peroxiredoxin 6 And Inflammation In Alzheimer's Disease, Jared Ferrell-Penniman

Biological Sciences Theses and Dissertations

Alzheimer’s disease (AD) is known for its debilitating symptoms and poor prognosis. However, despite intense research into neurodegenerative diseases, there are few therapies targeted at the underlying mechanisms of the disease. Oxidative stress (OS) and inflammation are cellular phenomena thought to be key to the progression of the disease. Critically, peroxiredoxin 6 (Prx6), an antioxidant protein with multiple functions, has been identified from mammalian studies as a potential regulator of both OS and inflammation that may have a specific effect on AD. This project seeks to elucidate the role of Prx6 in AD as well as the underlying mechanisms ...


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 ...


A Possible Luxr Solo Type Regulator Of An Antibiotic-Like Compound From The Soil Bacterium Rhodococcus, Katelyn Sellick Dec 2019

A Possible Luxr Solo Type Regulator Of An Antibiotic-Like Compound From The Soil Bacterium Rhodococcus, Katelyn Sellick

Electronic Theses and Dissertations

Rhodococcus, a species of bacteria commonly found in the soil, is an under-explored producer of small bioactive compounds including siderophores, pigments and antibiotics. MTM3W5.2 is a strain of Rhodococcus that was previously discovered to produce an antibiotic-like compound that has inhibitory effects on other Rhodococcus strains, including the veterinary pathogen, R. equi. The biosynthetic gene cluster responsible for production of the antibiotic has been identified, and a small gene, BTZ20_3964 at the start of the operon is believed to be a luxR solo regulator of the gene cluster. The goal of this project was to determine this gene’s ...


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 ...


Functional Importance Of Lipin Phosphorylation, Stephanie Elizabeth Hood Dec 2019

Functional Importance Of Lipin Phosphorylation, Stephanie Elizabeth Hood

Theses and Dissertations

Highly conserved throughout evolution, lipins are dual functioning proteins found from yeast to humans. Functioning in the cytoplasm as phosphatidate phosphatase enzymes (PAP), lipins produce diacylglycerol that serves as a precursor for neutral fats and membrane phospholipids. Alternatively, nuclear lipins are responsible for the regulation of metabolic genes. Interestingly, both the mammalian lipin 1 paralog and the single Drosophila Lipin ortholog are highly phosphorylated proteins. Target of rapamycin (TOR) has previously been identified as one of the kinases that controls the subcellular localization of both lipin 1 and Drosophila Lipin. However, other serine and threonine kinases are predicted to be ...


Rna Interference Of Worker Sterility Genes: Testing Mechanisms Of Reproductive Regulation In Apis Mellifera, Anthony J. Gallo Sep 2019

Rna Interference Of Worker Sterility Genes: Testing Mechanisms Of Reproductive Regulation In Apis Mellifera, Anthony J. Gallo

Electronic Thesis and Dissertation Repository

Social insects such as the honey bee (Apis mellifera) are well known for their reproductive division of labour and eusocial colony systems. Honey bee workers forgo reproduction in favour of being selfless in directing reproductive benefits towards their queen mother. This altruistic tendency is a result of both behavioural and physiological changes under control of the presence of the queen’s mandibular pheromone. The genetic mechanism that underlies this response is, however, not well understood. Here, this study used RNA interference to knock down the expression of single genes (fruitless and ftz-f1) that have been previously identified as influential in ...


Eugenics In The 21st Century, Jessica Linn Chin Sep 2019

Eugenics In The 21st Century, Jessica Linn Chin

All Dissertations, Theses, and Capstone Projects

Eugenics is the science of enhancing the human population through the management of breeding and hereditary traits. This thesis explores the history of eugenics and shows how eugenic practices continue in the 21st century with advancements in technology and positive eugenic goals that can result in adverse effects on the human body and society. When Sir Francis Galton coined the term eugenics in 1883, he intended to improve British society with the use of positive eugenics. Galton used positive eugenics to encourage people with good mental and physical qualities to produce more children. He avoided negative eugenics, which involved ...


Assessing The Role Of Drosophila Melanogaster Neuroligin 3 On Social Spacing And Climbing Behaviour, J. Wesley Robinson Aug 2019

Assessing The Role Of Drosophila Melanogaster Neuroligin 3 On Social Spacing And Climbing Behaviour, J. Wesley Robinson

Electronic Thesis and Dissertation Repository

Autism spectrum disorders can be clinically defined in part by impairments of social interactions. Social interactions can be modeled in Drosophila melanogaster with behaviours such as social spacing. Here, I examined the effects of autism-related gene neuroligin 3 on fly social spacing. I hypothesized if neuroligin 3 is mutated or gene expression is targeted for knockdown, then flies will have altered social space in males and females at different ages. Using the social space assay, I found that different mutations to neuroligin 3 change the fly’s behavior, in a mutation and sex-specific manner. Using an antibody against Nlg3, I ...


From Single Cells To Human Disease: High-Resolution Phenotyping Of Male Infertility Models Using Single-Cell Rna Sequencing, Min Jung Aug 2019

From Single Cells To Human Disease: High-Resolution Phenotyping Of Male Infertility Models Using Single-Cell Rna Sequencing, Min Jung

Arts & Sciences Electronic Theses and Dissertations

Male infertility is a complex disease that can result in significant emotional distress and treatment costs. Globally, male infertility affects 7% of males, and while its incidence is rising, its etiology remains elusive. In order to improve patient care, it is critical to identify the nature of spermatogenic failure in as many men as possible. The extensive cellular heterogeneity of testis has limited the application of bulk expression measurements to capture crucial information to dissect molecular mechanisms of defects in the infertile patients. Thus, the application of single-cell RNA-sequencing on male germ cells provides an amazing new set of scientific ...


Investigating The Role Of Cd109 In Pancreatic Ductal Adenocarcinoma, Mennatallah Shaheen Aug 2019

Investigating The Role Of Cd109 In Pancreatic Ductal Adenocarcinoma, Mennatallah Shaheen

UT GSBS Dissertations and Theses (Open Access)

Pancreatic Ductal Adenocarcinoma (PDAC) is the 3rd leading cause of cancer death in the US. We performed loss of function genomic screening on a cohort of four patient derived PDAC cell populations and our data shows a cell surface receptor CD109 to be a common vulnerability, the biologic role of which in PDAC is yet unstudied and largely unknown. We hypothesized that CD109 expression provides PDAC cells with a survival advantage, and promotes cancer progression through activation of downstream signaling. We believe therefore that targeting CD109 could improve PDAC patients’ survival. Here we report that CD109 plays a role in ...


P53r245w Mutation Elicits Metastatic Phenotype In Pten Deficient Prostate Cancer, Ky Pham Aug 2019

P53r245w Mutation Elicits Metastatic Phenotype In Pten Deficient Prostate Cancer, Ky Pham

UT GSBS Dissertations and Theses (Open Access)

Trp53 mutations are the most frequent genetic alterations in prostate cancer and are associated with more aggressive disease and worse overall survival. The majority of Trp53 mutations in prostate cancer are missense mutations, resulting in amino acid substitutions with profound effect. In addition to the loss of wild type function, missense mutations in Trp53 result in a gain-of-function (GOF) phenotype. This GOF phenotype confers biologic advantages to the tumor cells, enabling them to metastasize and invade distant organs. In this study, we generated mice carrying a conditional prostate-specific p53R245W mutant and Pten deletion to access the role of this common ...


Rescue And Reestablishment Of Chicken Models For Spontaneously Occurring Hashimoto’S Thyroiditis And Systemic Sclerosis/Scleroderma, Joseph Zolton Hiltz Aug 2019

Rescue And Reestablishment Of Chicken Models For Spontaneously Occurring Hashimoto’S Thyroiditis And Systemic Sclerosis/Scleroderma, Joseph Zolton Hiltz

Theses and Dissertations

The loss of biodiversity is a topic gaining popularity both in the political and scientific forums. Nearly 30 years ago researchers and politicians congregated in Rio de Janeiro (1992) to attend the first Earth Summit. It was the first meeting of its kind discussing the tangible pressing consequences of biodiversity loss as well as the potential long term ramifications. Many of the countries represented at this summit implemented short and long term plans in order to accurately measure losses of biodiversity as well as establishing organizations to help diagnose and remedy the current problems at hand. These new organizations and ...


Multi-Polygenic Risk Score Prediction Model For Bipolar Disorder, Travis Mize Aug 2019

Multi-Polygenic Risk Score Prediction Model For Bipolar Disorder, Travis Mize

UNLV Theses, Dissertations, Professional Papers, and Capstones

Bipolar disorder (BP), a severe mental disorder characterized by recurring manic and depressive episodes, has been shown to have a strong genetic underpinning. Current theory suggests that it is the summation of risk alleles, spread across the entirety of the genome, which contributes to the development of BP, as well as other polygenic traits. The comorbid nature of these polygenic traits are often problematic for diagnosticians as the symptomology of the disorders may vary substantially between individuals and can create diagnostic confusion. To alleviate issues such as these, a more objective measure, to be used alongside current diagnostic procedures, is ...


Sequence Analysis Of The Ren1 Genomic Region From The Grapevine ‘Kishmish Vatkana’, Dani Joseph Aug 2019

Sequence Analysis Of The Ren1 Genomic Region From The Grapevine ‘Kishmish Vatkana’, Dani Joseph

MSU Graduate Theses

The REN1 region of the grapevine ‘Kishmish Vatkana’ was mapped as the locus that confers resistance to the economically important disease, grape powdery mildew. The purpose of this work was to extend the nucleotide sequence information of this region. By sequencing a heretofore unknown bacterial artificial chromosome clone, the sequence information of this region was extended by 46,890 nucleotides. Sequencing was performed using the third-generation sequencing method, named Oxford Nanopore Technology (ONT). In order to improve the accuracy of the sequence data, a modified ONT library preparation method was developed. ONT sequencing of a library prepared with the modified ...


The Fruitless Gene Influences Female Mate Preference In Drosophila, Tabashir A. Chowdhury Jul 2019

The Fruitless Gene Influences Female Mate Preference In Drosophila, Tabashir A. Chowdhury

Electronic Thesis and Dissertation Repository

Species can arise as a result of reproductive barriers that prevent gene flow between diverging populations that force them to remain isolated from one another. Behavioural isolation is one of the earliest acting reproductive barriers determined by the evolution of mating preferences that prevent inter-specific matings. Several traits have been identified that contribute to behavioural isolation, but the genetic basis of interspecific female preference is yet to be determined. I used genetic mapping techniques to identify and confirm that the fruitless gene is affecting species-specific female rejection of interspecies males, contributing to the behavioural isolation between Drosophila melanogaster and D ...


A Mendelian Randomization Study Of Coronary Artery Disease And Three Amino Acids: Alanine, Glycine, And Glutamine, Allan Uribe Jun 2019

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

Dissertations and Theses

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


Mapping And Functional Analysis Of Cis-Regulatory Elements In Mouse Photoreceptors, Andrew Hughes May 2019

Mapping And Functional Analysis Of Cis-Regulatory Elements In Mouse Photoreceptors, Andrew Hughes

Arts & Sciences Electronic Theses and Dissertations

Photoreceptors are light-sensitive neurons that mediate vision, and they are the most commonly affected cell type in genetic forms of blindness. In mice, there are two basic types of photoreceptors, rods and cones, which mediate vision in dim and bright environments, respectively. The transcription factors (TFs) that control rod and cone development have been studied in detail, but the cis-regulatory elements (CREs) through which these TFs act are less well understood. To comprehensively identify photoreceptor CREs in mice and to understand their relationship with gene expression, we performed open chromatin (ATAC-seq) and transcriptome (RNA-seq) profiling of FACS-purified rods and cones ...


Exploring Infant Leukemia Through Exome Sequencing And An In Vitro Model Of Hematopoietic Development, Mark Cannon Valentine May 2019

Exploring Infant Leukemia Through Exome Sequencing And An In Vitro Model Of Hematopoietic Development, Mark Cannon Valentine

Arts & Sciences Electronic Theses and Dissertations

Cancer is a heterogeneous disease with myriad causes and outcomes. Many of the cancers that occur in adult populations have become increasingly well characterized with the advent of affordable high-throughput sequencing. These studies have revealed that cancer is largely a disease of somatic mutation in the adult population. In strong contrast to this, childhood cancers have an exceedingly low rate of somatic mutation. At the extreme end of this spectrum is Infant Leukemia (IL). Sequencing of IL has revealed that these tumors frequently have one or fewer somatic SNP. In the absence of a somatic explanation for IL, many other ...


Characterization Of Ethanol-Related Phenotypic Differences Between C57bl/6j And C57bl/6nj Substrains: Role Of Cyfip2?, Matthew C. Hartmann May 2019

Characterization Of Ethanol-Related Phenotypic Differences Between C57bl/6j And C57bl/6nj Substrains: Role Of Cyfip2?, Matthew C. Hartmann

Electronic Theses and Dissertations

The C57BL/6 (B6) mouse is the most commonly used inbred strain in biomedical research, and has served as the basis for various large-scale genetic and genomic projects. Although the parental substrain, C57BL/6J (B6J), originated at The Jackson Laboratory, isolated breeding colonies are now maintained at numerous sites. This separation has resulted in genetic drift that has led to the emergence of phenotypic differences among these colonies. For instance, B6J mice display higher levels of voluntary ethanol consumption and increased locomotor responses to psychostimulants, relative to C57BL/6N mice (B6N). Initial progress has been made in elucidating the genetic ...


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 ...


An Exploration Of Rna And Mirna Expression And Their Role In Cell Cycle Regulation Of Human Primary Trabecular Meshwork Cells, Kyle Joseph Gonsalves May 2019

An Exploration Of Rna And Mirna Expression And Their Role In Cell Cycle Regulation Of Human Primary Trabecular Meshwork Cells, Kyle Joseph Gonsalves

Theses and Dissertations

In the Kuehn lab, it has been shown that inducible pluripotent stems cells that have been induced to be trabecular meshwork cell-like (iPSC-TM) have a unique ability to regenerate dysfunctional trabecular meshwork (TM) cells by sharing specific unknown factors. In this thesis will discuss the novel means by which I isolate primary human Trabecular Meshwork (pTMs) and efficiently prepare cell cultures for experimentation, such as a sequencing experiment in which I studied expression changes that arose when the TM cell culture’s cell cycle control is manipulated. Previous research has shown that pTM grow atypical when 100% confluent compared to ...


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 ...


Detection Of Genetic Thrombophilia (Fa V Leiden & Pt20210 Mutation) Using Genexpert Technology With Iqcp Implementation, Mariegrace Saquilayan May 2019

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

Natural Sciences and Mathematics | Clinical Laboratory Sciences Culminating Projects

Abstract

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


A Novel Kinesin Adapter Directly Mediates Dendritic Mrna Localization During Synapse Development, Hao Wu May 2019

A Novel Kinesin Adapter Directly Mediates Dendritic Mrna Localization During Synapse Development, Hao Wu

All Dissertations, Theses, and Capstone Projects

Cytoskeleton based active transport with motor proteins is essential for mRNA localization and local protein translation in animal cells, yet how mRNA granules interact with motor proteins remains poorly understood. Using an unbiased screen for interaction between mRNA binding proteins (RBP) and motor proteins, we identified protein interacting with APP tail 1 (PAT1) as a potential direct adapter between the β-actin mRNA Zipcode-binding protein 1 (ZBP1) and Kinesin-1 motor complex.

Mouse PAT1 is similar to the Kinesin Light Chain (KLC) in amino acid sequence and binds directly to KLC. High-resolution images from structured illumination microscopy (SIM) indicates that synaptic stimulation ...


Male Determining Gene Nix May Bring An End To Transmission Of Diseases Through Mosquitoes, Mohammed Mahdi Apr 2019

Male Determining Gene Nix May Bring An End To Transmission Of Diseases Through Mosquitoes, Mohammed Mahdi

Thinking Matters Symposium

Female mosquitoes take blood from humans to gain protein needed to produce eggs, and in the process they can transmit viruses, such as Zika, Dengue, and chikungunya, or parasites, such as malaria. Male mosquitoes do not transmit diseases. This literature review will examine what is known about how sex is determined in mosquitoes and how this can be used to manipulate the females that spread diseases to humans. Using CRISPR Cas9, the lab of Zhijian Tu removed the Nix gene from mosquito embryos; all of these were feminized. Ectopic overexpression of Nix gene product in mosquito embryos caused even genetically ...


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 ...


Exploring Patient Perceptions And Misconceptions: Beliefs Regarding Hereditary Cancer, Margaret Flach Apr 2019

Exploring Patient Perceptions And Misconceptions: Beliefs Regarding Hereditary Cancer, Margaret Flach

Theses and Dissertations

Many patients who enter a genetic counseling session have preconceived notions about why they or their family members developed a genetic condition. Often these perceptions are deeply rooted in personal, familial, and/ or cultural beliefs; individuals typically have a personal framework, or schema, into which they incorporate new information. There is limited research on what information patients are retaining during a genetic counseling session and how they are assimilating that knowledge into their existing views. We attempted to characterize these patient perceptions with respect to hereditary cancer, in order to assess how patients are adopting the information presented in a ...


Microsatellite Analysis Of Culex Tarsalis Populations In Montana, Kaitlin Stromberg Apr 2019

Microsatellite Analysis Of Culex Tarsalis Populations In Montana, Kaitlin Stromberg

Life and Environmental Sciences Undergraduate Theses

West Nile Virus (WNV) has been present in Montana since 2002. The primary vector of WNV in Montana is Culex tarsalis. At Carroll College, the purpose of the WNV project is to survey for the presence of the virus across the state and create a risk model in real time. The goal of this particular study was to find a microsatellite protocol that consistently works in order to create a reliable landscape genetics model for C. tarsalis populations. Three reagent sets were used in order to test which reagent conditions best amplified the three loci, followed by gel electrophoresis to ...