Genetics and Genomics Commons^™

Intracellular Delivery Of Therapeutic Biomolecules Through Versatile Polymer Nanotechnology, David C. Luther

Doctoral Dissertations

Advancing pharmaceutical technology has made it possible to treat diseases once considered ‘undruggable.’ Access to these new pharmaceutical targets is possible thanks to the advent of protein and nucleic acid therapeutics. Responses to the COVID-19 pandemic, as well as cutting-edge treatments for cancer and multiple sclerosis have centered on these biologic therapies, promising even greater value in the future. However, their utility is limited at a cellular level by inability to cross the plasma membrane. Nanocarrier technologies encapsulate therapeutics and facilitate uptake into the cell but are often trapped and degraded in endosomes. Arginine-functionalized gold nanoparticles (Arg-NPs) provide efficient, direct …

Rescue Of Deficits By Brwd1 Copy Number Restoration In The Ts65dn Mouse Model Of Down Syndrome, Sasha L. Fulton, Wendy Wenderski, Ashley E. Lepack, Andrew L. Eagle, Tomas Fanutza, Ryan M. Bastle, Aarthi Ramakrishnan, Emma C. Hays, Arianna Neal, Jaroslav Bendl, Lorna A. Farrelly, Amni Al-Kachak, Yang Lyu, Bulent Cetin, Jennifer C. Chan, Tina N. Tran, Rachael L. Neve, Randall J. Roper, Kristen J. Brennand, Panos Roussos, John C. Schimenti, Allyson K. Friedman, Li Shen, Robert D. Blitzer, Alfred J. Robison, Gerald R. Crabtree, Ian Maze

Publications and Research

With an incidence of ~1 in 800 births, Down syndrome (DS) is the most com- mon chromosomal condition linked to intellectual disability worldwide. While the genetic basis of DS has been identified as a triplication of chromosome 21 (HSA21), the genes encoded from HSA 21 that directly contribute to cognitive de fi cits remain incompletely understood. Here, we found that the HSA21- encoded chromatin effector, BRWD1, was upregulated in neurons derived from iPS cells from an individual with Down syndrome and brain of trisomic mice. We showed that selective copy number restoration of Brwd1 in trisomic animals rescued de fi …

Radiation Exposure Determination In A Secure, Cloud-Based Online Environment, Ben C. Shirley, Eliseos J. Mucaki, Peter Rogan

Biochemistry Publications

Rapid sample processing and interpretation of estimated exposures will be critical for triaging exposed individuals after a major radiation incident. The dicentric chromosome (DC) assay assesses absorbed radiation using metaphase cells from blood. The Automated Dicentric Chromosome Identifier and Dose Estimator System (ADCI) identifies DCs and determines radiation doses. This study aimed to broaden accessibility and speed of this system, while protecting data and software integrity. ADCI Online is a secure web-streaming platform accessible worldwide from local servers. Cloud-based systems containing data and software are separated until they are linked for radiation exposure estimation. Dose estimates are identical to ADCI …

Full Issue, Winthrop Mcnair Research Bulletin

The Winthrop McNair Research Bulletin

Winthrop McNair Research Bulletin Volume 5, Full Issue

Locating Mutagen-Sensitivity Gene Mus109 In The Drosophila Melanogaster Genome Using Deficiency Mapping, Chandani Mitchell

The Winthrop McNair Research Bulletin

The complex processes involved in repairing damaged DNA are still being elucidated. Some genes that are known to have roles in the DNA repair process have been identified, such as the mutagen-sensitivity genes, or mus genes, in Drosophila melanogaster. However, the precise genomic location of some mus genes is still unknown, including mus109. It is known that mutations in mus109 cause chromosomal aberrations resulting in larval death, and previous research has mapped mus109 to a region of the X chromosome consisting of over 520,000 nucleotides and 41 genes. Therefore, this study aimed to locate mus109 using deficiency mapping. The mus109D2 …

Ngly1 Deficiency Affects Glycosaminoglycan Biosynthesis And Wnt Signaling Pathway In Mice, Amy Batten

PANDION: The Osprey Journal of Research and Ideas

Individuals affected by NGLY1 Deficiency cannot properly deglycosylate and recycle certain proteins. Even though less than 100 people worldwide have been diagnosed with this rare autosomal recessive condition, thousands are affected by similar glycosylation disorders. Common phenotypic manifestations of NGLY1 Deficiency include severe neural and intellectual delay, impaired muscle and liver function, and seizures that may become intractable. Very little is currently known about the various mechanisms through which NGLY1 deficiency affects the body and this has led to a lack of viable treatment options for those afflicted. This experiment uses a loss-of-function (LOF) mouse model of NGLY1 Deficiency homologous …

Alu Dimorphism At The Pv92 Locus Of Chromosome 16 Is In Equilibrium For University Student Population, James M. Brooks, Mackenzie L. Thackston

Journal of the South Carolina Academy of Science

Alu is a retrotransposable element, which refers to its ability to be copied and move from one region of DNA to another DNA region. At the PV92 locus of chromosome 16, Alu is a 300 bp dimorphic insert that can either be present or absent. It does not encode a protein product and has lost the ability to transpose. It is specific to humans, and differences in genotype and allele frequencies between human populations are important tools in understanding evolution. In this research, data was obtained and analyzed from 269 students at Charleston Southern University (CSU) belonging to four different …

Analysis Of Phenotypic Expression Associated With Different Genotypes Of The Blue/Brown Eyes Single Nucleotide Polymorphism, Jade Riddle, Taylor Mckinney

Fall Showcase for Research and Creative Inquiry

No abstract provided.

Leaf Phenology And Freeze Tolerance Of The Invasive Tree Pyrus Calleryana (Roseaceae) And Potential Native Competitors, Margaret E. Maloney, Abby Hay, Eric B. Borth, Ryan W. Mcewan

Biology Faculty Publications

Pyrus calleryana is one of the most problematic invasive species in the eastern United States. The mechanisms that enable Py. calleryana to establish and outcompete native plants are not fully understood but likely include a profile of advantageous traits. Extended leaf phenology is a characteristic noted in many woody invasive plants. Leaf phenology of Py. calleryana and two native woody species, Populus deltoides and Platanus occidentalis, was observed in natural areas near Dayton, OH from December 2019 to November 2020. A frost event in May also gave us the serendipitous opportunity to assess frost tolerance of these species. We …

Mapping Natural Genetic Variants Associated With Nutrient Response, Kenneth Wilson

Natural Sciences and Mathematics | Biological Sciences Master's Theses

Phenotypic responses to dietary intake affect every individual, yet individuals consuming similar diets frequently display a myriad of different responses. As diet-related disorders are abundant in humans, understanding the means by which an individual’s genetics dictate these physiological responses is essential. Furthermore, dietary restriction has been shown to dramatically increase the length of lifespan in Drosophila melanogaster, but the exact genetic mechanisms governing this response are still not fully understood. In this study, I have used the Drosophila melanogaster Genetic Reference Panel (DGRP) to pinpoint specific quantitative trait loci associated with a number of diet-induced complex traits so as to …

Variability And Genetic Structure Of The Montezuma Quail Cyrtonyx Montezumae In The Northern Limit Of Its Distribution, Eduardo Sánchez Murrieta, Alberto Macías-Duarte, Reyna A. Castillo-Gámez, Angel B. Montoya, Alejandro Varela-Romero, Nohelia G. Pacheco Hoyos

National Quail Symposium Proceedings

A species’ geographic distribution of genetic variability is influenced by different factors including size of geographic distribution, dispersal capability, mating system, and migration. For instance, a low migration rate among populations may cause a decrease in genetic variation. Such is the case of the Montezuma quail (Cyrtonyx montezumae), a popular game bird with a limited flight capacity that prevents long-distance dispersal. In the northern limit of the species’ distribution in Arizona, New Mexico, and Texas in the United States, the species inhabits oak forests that are separated from one another by deserts. Consequently, Montezuma quail populations are distributed …

Novel Therapeutic Strategies For Alzheimer’S Disease: Prostaglandin D2 Signaling And Its Human Polymorphisms As Well As A Polypharmacological Approach, Charles H. Wallace

Dissertations, Theses, and Capstone Projects

Alzheimer’s disease (AD) is an age related neurodegenerative disease with pathology that includes amyloid plaques, neurofibrillary tangles and non-resolving neuroinflammation. Non-resolving neuroinflammation lasts the entire course of the disease and has deleterious effects and is often thought to accelerate AD pathology. Non-Steroidal Anti-inflammatory Drugs (NSAIDs) have commonly been used as therapeutics to treat pain, inflammation and vascular. NSAIDs work by altering the cyclooxygenase (COX) mediated biosynthesis of prostaglandins which are lipid mediators that have many physiological functions, for example nociception, inflammation and vasodilation. Epidemiological studies support the notion that NSAIDs could be used to treat AD. Yet, clinical trials using …

The Utilization Of Crispr/Cas9 In Monogenic Disorders Authors, Shauna M. Mellor

Spectra Undergraduate Research Journal

This paper is a literature review of various scientific research papers, exploring the recent scientific advancement in the field of genetic engineering. The research presented is a foundational tool, building awareness on the implications of CRISPR/ Cas9 technology. CRISPR/ Cas9 was first discovered through the study of bacterial immune systems, fighting against viral infections. Manipulation of the Cas9 protein would eventually lead to target specific, gene-altering medicines for human organisms. CRISPR/ Cas 9 technology has begun to show promise as an effective treatment for certain monogenic disorders. Despite this, time is required before its efficacy as a proven genetic treatment …

Investigation Of Neurotransmitter’S Knockdown Effect On Drosophila Melanogaster Female Aggression, Asil N. El Galad

Undergraduate Student Research Internships Conference

Drosophila melanogaster (D. melanogaster) is a popular model organism in neurobiology. While aggression has been studied heavily in male drosophila, there's minimal research on aggression in female drosophila. Neurotransmitters influencing aggressive behaviour in female D. melanogaster are poorly understood. Various neurotransmitters such as dopamine, octopamine, and serotonin influence aggression in D. melanogaster Further investigation of the role of neurotransmitters on aggression is thus important. The purpose of our experiment is to observe the effect of the knockdown of dopamine, octopamine and glutamate on aggression in female D. melanogaster.

Using Direct Pcr For Disaster Victim Identification Reference Samples, Mary Habib

Student Theses

Forensic genetic testing is an important tool for the identification of victims after a mass fatality event but degradation of remains, presence of PCR inhibitors, and limited amounts of sample can make testing difficult. Standard protocols typically include extraction of genetic material from recovered post-mortem samples, and from ante-mortem reference samples or families of a missing person. This is a time-consuming and laborious process and may result in the loss of trace amounts of DNA available for amplification. Incorporating workflows that bypass the extraction step and directly amplify recovered DNA for short tandem repeat (STR) profile generation has the potential …

Towards More Complete Metagenomic Analyses Through Circularized Genomes And Conjugative Elements, Benjamin R. Joris

Electronic Thesis and Dissertation Repository

Advancements in sequencing technologies have revolutionized biological sciences and led to the emergence of a number of fields of research. One such field of research is metagenomics, which is the study of the genomic content of complex communities of bacteria. The goal of this thesis was to contribute computational methodology that can maximize the data generated in these studies and to apply these protocols human and environmental metagenomic samples.

Standard metagenomic analyses include a step for binning of assembled contigs, which has previously been shown to exclude mobile genetic elements, and I demonstrated that this phenomenon extends to all conjugative …

Genetic Determinants Of Primary Nociceptor Sensitivity In Drosophila Melanogaster, Christine Hale

Electronic Theses and Dissertations

Abnormal pain affects ~50 million adults nationwide. With many of the current treatment options for chronic pain, such as opioid analgesics, carrying side effects such as the threat for addiction, research into safer and more effective options for chronic pain relief is crucial. Abnormal alterations in nociceptive sensitivity, which is the sensitivity of peripheral sensory neurons that detect noxious stimuli, can underlie, and perpetuate chronic pain. However, much is still unknown about the mechanism of how these abnormal alterations in sensitivity occur. To help elucidate genetic components controlling nociceptive sensitivity, the Drosophila melanogaster larval nociception model has been used …

Utilizing Rnai Technology To Develop Novel Agricultural Pesticides, Ethan B. Zand

Undergraduate Student Research Internships Conference

A general description of why RNAi based pesticide technology is a breakthrough technology able to target only pests while not harming others. This presentation gives a summary of RNAi technology, the current drawbacks of conventional pesticides, and our research on how RNAi can be used against the two-spotted spidermite; a polyphagic pest that causes significant financial damage to Canadian and worldwide agriculture

My Summer Working With Two-Spotted Spider Mites, Renée A. Smith

Undergraduate Student Research Internships Conference

Two-spotted spider mites are a polyphagous pest, capable of eating a magnitude of food crops which causes a large problem for Canadian agriculture. Their ability to consume various crops stems from their ability to adapt to various chemical defence mechanisms. This ability allows them to acquire resistance to many commonly used pesticides. This has resulted in large infections in Canadian farms with few options to prevent the pests from affecting crop yields. Take a look at my project if you'd like to see how the Grbic lab is working to combat this issue using genetic engineering techniques!

Rna-Interference As A Topical Pesticide, Eleanor Khochaba

Undergraduate Student Research Internships Conference

Tetranychus urticae are a species of pests that are very problematic in agricultural environments, as they cause lots of damage to a wide variety of crops. One step in figuring out a solution to this problem is through the use of RNA interference. After synchronizing the spider mites, they are treated with the dsRNA solution. The dsRNA is cleavage inside the mite, and the siRNA fragments then bind to a target gene in hopes of homologous sequence recognition leading to knockout/deregulation of the target gene. After treatment, the mites are observed for multiple variables, primarily fecundity and survival. If a …