Life Sciences Commons^™

Unravelling The Genetic Basis Of Schizophrenia, Clara Casey, John F. Fullard, Roy D. Sleator

Department of Biological Sciences Publications

Neuronal development is a highly regulated mechanism that is central to organismal function in animals. In humans, disruptions to this process can lead to a range of neurodevelopmental phenotypes, including Schizophrenia (SCZ). SCZ has a significant genetic component, whereby an individual with an SCZ affected family member is eight times more likely to develop the disease than someone with no family history of SCZ. By examining a combination of genomic, transcriptomic and epigenomic datasets, large-scale ‘omics’ studies aim to delineate the relationship between genetic variation and abnormal cellular activity in the SCZ brain. Herein, we provide a brief overview of …

Dna Barcoding Indicates Multiple Invasions Of The Freshwater Snail Melanoides Tuberculata Sensu Lato In Florida, Lori Tolley-Jordan, Michael A. Chadwick, Jimmy K. Triplett

Research, Publications & Creative Work

Melanoides tuberculata sensu lato (Thiaridae) are polymorphic female-clonal snails of Asian and African origins that have invaded freshwaters worldwide, including those in Florida. Although the snails have been documented in Florida for at least 70 years, no studies have investigated whether the observed distribution is due to a single introduction or multiple independent invasions. Here, cytochrome oxidase I was used to measure genetic diversity within and among sites in Florida and compare genetic diversity between Florida and other regions of the world. We also examined the relationship between shell morphology and haplotype diversity to determine if shell morphs can serve …

Engaging Students In A Genetics Course-Based Undergraduate Research Experience Utilizing Caenorhabditis Elegans In Hybrid Learning To Explore Human Disease Gene Variants, Natalie Forte, Virginia Veasey, Bethany Christie, Amira Carter, Marli Hanks, Alan Holderfield, Taylor Houston, Anil Challa, Ashley Turner

Research, Publications & Creative Work

Genetic analysis in model systems using bioinformatic approaches provides a rich context for a concrete and conceptual understanding of gene structure and function. With the intent to engage students in research and explore disease biology utilizing the nematode Caenorhabditis elegans model, we developed a semester-long course-based undergraduate research experience (CURE) in a hybrid (online/in-person) learning environment—the gene-editing and evolutionary nematode exploration CURE (GENE-CURE). Using a combination of bioinformatic and molecular genetic tools, students performed structure-function analysis of disease-associated variants of uncertain significance (VUS) in human orthologs. With the aid of a series of workshop-style research sessions, students worked in teams …

Multivariate Adaptive Shrinkage Improves Cross-Population Transcriptome Prediction And Association Studies In Underrepresented Populations, Daniel Araujo, Chris Nguyen, Xiaowei Hu, Anna V. Mikhaylova, Christopher R. Gignoux, Kristin Ardlie, Kent D. Taylor, Peter Durda, Yongmei Liu, George Papanicolaou, Michael H. Cho, Stephen S. Rich, Jerome I. Rotter, Nhlbi Topmed Consortium, Hae Kyung Im, Ani Manichaikul, Heather Wheeler

Biology: Faculty Publications and Other Works

Transcriptome prediction models built with data from European-descent individuals are less accurate when applied to different populations because of differences in linkage disequilibrium patterns and allele frequencies. We hypothesized that methods that leverage shared regulatory effects across different conditions, in this case, across different populations, may improve cross-population transcriptome prediction. To test this hypothesis, we made transcriptome prediction models for use in transcriptome-wide association studies (TWASs) using different methods (elastic net, joint-tissue imputation [JTI], matrix expression quantitative trait loci [Matrix eQTL], multivariate adaptive shrinkage in R [MASHR], and transcriptome-integrated genetic association resource [TIGAR]) and tested their out-of-sample transcriptome prediction accuracy …

Genetic Population Structure And Effective Number Of Breeders In Systems Across The Range Of The Gulf Sturgeon, Jacob Zona

Master's Theses

Gulf sturgeon (Acipenser oxyicnhus desotoi) are a large, anadromous fish belonging to an ancient lineage that diverged as early as 400 MYA. Overfishing for meat and caviar during the early 1900’s reduced their range and abundance and continued habitat destruction and mortality have limited their ability to recover, leading to their listing under the Endangered Species Act. This study uses genetic techniques to determine the effective number of breeders for multiple spawning groups of Gulf sturgeon in river systems across their range to set a baseline for tracking reproductive success of the species. Accompanying genetic information relevant to …

Involvement Of Chromosome Remodeling Complexes On Chromosome Segregation, Adelle Warford

Biological Sciences Undergraduate Honors Theses

Errors in chromosome segregation during cell replication are detrimental to the health of living cells. These errors cause aneuploidy: daughter cells with an incorrect number of chromosomes, as well as polyploidy: the complete duplication of a genome. In humans, these segregation errors are responsible for many harmful diseases and disorders. Using the model organism S. cerevisiae, a double mutant was created by removing two key chromosome remodeling complexes, SWR1 and INO80, both known to independently cause aneuploidy, decreased fitness, and damages the sensitivity of a cell's DNA (Andalis et al. 2004). By creating a double mutant strain, genetic cell …

Gonads Without Glp-1: Silencing Glp-1 In The Male Somatic Gonad In Caenorhabditis Elegans, Matthew Titus

Undergraduate Theses

In C. elegans, the gene glp-1 encodes for a Notch receptor called GLP-1, one of two found in C. elegans’ genome. The gene has been previously implicated in the development of the hermaphroditic germline as well as playing a role in the mitosis/meiosis decision. Genetic screening has further identified it as potentially playing a role in the development of the male somatic gonad, making it an ideal candidate for a reverse genetic. We did this by silencing glp-1 and observing if any alterations to the gonad’s phenotype occur.

Normally this could be done by performing a gene knockout. …

Understanding The Expression And Role Of Pros-1 In The Male Gonad Of C. Elegans, Jack Bozik

Undergraduate Theses

The gene pros-1 is a transcription factor that is highly expressed within neuronal sheath cells, glial cells, and excretory canal cells. pros-1 plays a role in cell determination of those cell types in the nematode C. elegans, which promotes organismal development. But the degree to which pros-1 presence is important is still not fully understood, because there are many genes involved in development that when mutated or damaged can result in unexpected phenotypes or even total loss of function to a certain developmental mechanism. What makes pros-1 valuable to research is that it is a functional homologue to a …

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 …

Regulation And Function Of The Mec-8/Rbpms Rna Binding Protein In Vivo, Xiaoyu Liang

Biological Sciences Theses and Dissertations

Alternative splicing is a major form of post-transcriptional regulation of gene expression which plays a pivotal role in cell/tissue- specific identity, diversity, and function. The mechanisms of alternative splicing are well studied; however, the functional consequences of the spliced transcripts are relatively less demonstrated. Therefore, many efforts are needed to understand the physiological relevance of alternative splicing. RNA binding proteins are critical regulators of alternative splicing, their malfunction disrupt the normal networks, and further underlies many diseases. To understand how alternative splicing contributes to the physiological functions in the cells or tissues, we explored the regulatory networks of RNA binding …

A Review On Serum, Genetic And Mirna Associated Biomarkers For The Early Diagnosis Of Hepatocellular Carcinoma (Hcc)), Ambreen Kanwal, Asima Tayyeb

Journal of Bioresource Management

Hepatocellular carcinoma is the most devastating complication of liver cirrhosis and diagnosis in earlier stages could be useful in curative interventions. The main aim of this review was to analyze current diagnostic biomarkers which are available for the early diagnosis of hepatocellular carcinoma (HCC). For this purpose, we searched different web databases including Medline/Pubmed. We found multiple significant serum biomarkers for imperative diagnosis including α- Fetoprotein, Des- γ -carboxyprothrombin (DCP), Osteopontin (OPN), Glypican-3 (GPC3), Golgi protein-73 (GP73), Squamous cell carcinoma antigen (SCCA), Annexin A2 (ANXA2) and Heat shock protein 70 (HSP70) but all of these represent low sensitivity and low …

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!

Nature, Data, And Power: How Hegemonies Shaped This Special Section, A. Kamath, B. Velocci, A. Wesner, N. Chen, Vincent A. Formica, B. Subramaniam, M. Rebolleda-Gómez

Biology Faculty Works

Systems of oppression—racism, colonialism, misogyny, cissexism, ableism, heteronormativity, and more—have long shaped the content and practice of science. But opportunities to reckon with these influences are rarely found within academic science, even though such critiques are well developed in the social sciences and humanities. In this special section, we attempt to bring cross-disciplinary conversations among ecology, evolution, behavior, and genetics on the one hand and critical perspectives from the social sciences and humanities on the other into the pages—and in front of the readers—of a scientific journal. In this introduction to the special section, we recount and reflect on the …

Molecular And Morphological Investigations Of Grouper (Serranidae) Biodiversity In Saudi Arabia, Mohammad Saeed Al Jazza Alqahtani

Theses and Dissertations

Chapter 1: The seas surrounding the Arabian Peninsula, which represent the northernmost portion of the Indian Ocean, are considered to have the highest aquatic biodiversity among the worlds marine regions. Seas that surround the Arabian Peninsula include the Red Sea, the Gulf of Aden, the Arabian Sea, the Gulf of Oman, and the Arabian Gulf. In aggregate, this area harbors a large number of endemic and more widespread marine species, including fishes, echinoderms, and corals.

There are unique challenges involved in grouper species identification in the Arabian region including ‘familiar’ Arabic species designations that are not standardized in the Arabic …

Invasion Of The Northeastern United States By The Southern Pine Beetle, Dendroctonus Frontalis, And The Impacts On Signatures Of Isolation By Distance Assessed Using Mitochondrial Dna, Lora Grace Holman

Honors Theses

The southern pine beetle (SPB) is a small, black beetle that parasitizes pine trees across the United States and Central America. Recently it has been recognized that the range of SPB is not limited to the southern United States, but rather extends northward across the eastern United States, which raises concerns for pine trees that have never encountered the pest before. Using mitochondrial DNA sequences from a section of the cytochrome oxidase I gene and four different measures of genetic distance compared to geographic distance, we tested for evidence of isolation by distance (IBD) among sampled SPB to see whether …

The Role Of Foxd1 In Clear Cell Renal Cell Carcinoma, Kyle H. Bond

Electronic Theses and Dissertations

Renal cell carcinoma (RCC) is the 8^th most common cancer in the United States, with the clear cell variant (ccRCC) being the most prevalent. Over 14,000 people die every year to RCC, with rates continuing to increase with an aging general population. Patients suffering from metastatic RCC (mRCC) have extremely poor prognoses, with a 5-year survival of only 11.2%. Current treatment options include resection of primary lesions, tyrosine kinase inhibition (Sunitinib, Pazopanib), mTOR inhibition (Temsirolimus, Everolimus), and immune checkpoint inhibition (Nivolumab, Atezolizumab). Recent attention has been drawn to inhibition of transcription factors like HIF2α (Belzutifan). There is a need …

Invisible Disabilities, Academic Capital And Competitiveness Of Genetic Counseling Applicants, Natalie E. Stoner, Meagan Choates, Carla Mcgruder, Debra Murray, Theresa Wittman, Sara Wofford, Claire N. Singletary

Dissertations & Theses (Open Access)

The field of genetic counseling has historically lacked diversity. Recent research has begun to explore how visible diversity may present barriers to a genetic counseling applicant becoming competitive, but has not yet characterized potential barriers with invisible diversities, such as being a first-generation college student, or a part of the LBGTQ+ community. Therefore, this study aimed to address this gap among those with invisible diversities, as well as explore their academic capital (AC), a theoretical framework used to identify factors that make students more likely to succeed in post-secondary work including supportive networks, trustworthy information, family uplift, college knowledge, overcoming …

The Role And Regulation Of The Caudal Gene In Tribolium Castaneum Segmentation, Suzanne Nicole Carpe Elias

Senior Theses and Projects

The embryo of the red flour beetle Tribolium castaneum develops sequentially by adding segments in an anterior-to-posterior progression using a “clock”-like mechanism similar to that of vertebrates. Previous studies indicate that the oscillations of this segmentation clock are driven by a gradient of the transcription factor caudal (cad), which activates and regulates the clock. Knocking down the cad gene using parental or early embryonic RNAi leads to animals with only head segments. We hypothesized that progressively later embryonic knockdowns would produce animals with progressively more segments if the function of cad does not change during segmentation. To examine …

Butterfly Eyespots Evolved Via Cooption Of An Ancestral Gene-Regulatory Network That Also Patterns Antennae, Legs, And Wings, Suriya Narayanan Murugesan, Heidi Connahs, Yuji Matsuoka, Mainak Das Gupta, Galen J. Tiong, Manizah Huq, Thomas Werner, Et. Al.

Michigan Tech Publications

Butterfly eyespots are beautiful novel traits with an unknown developmental origin. Here we show that eyespots likely originated via cooption of parts of an ancestral appendage gene-regulatory network (GRN) to novel locations on the wing. Using comparative transcriptome analysis, we show that eyespots cluster most closely with antennae, relative to multiple other tissues. Furthermore, three genes essential for eyespot development, (), (), and (), share similar regulatory connections as those observed in the antennal GRN. CRISPR knockout of -regulatory elements (CREs) for and led to the loss of eyespots, antennae, legs, and also wings, demonstrating that these CREs are highly …

Identification Of A Rickettsial Endosymbiont In A Soft Tick Ornithodoros Turicata Americanus, Lichao Liu, Daniel E. Sonenshine, Hameeda Sultana, Girish Neelakanta

Biological Sciences Faculty Publications

Bacterial endosymbionts are abundantly found in both hard and soft ticks. Occidentia massiliensis, a rickettsial endosymbiont, was first identified in the soft tick Ornithodoros sonrai collected from Senegal and later was identified in a hard tick Africaniella transversale. In this study, we noted the presence of Occidentia species, designated as Occidentia-like species, in a soft tick O. turicata americanus. Sequencing and phylogenetic analyses of the two genetic markers, 16S rRNA and groEL confirmed the presence of Occidentia-like species in O. turicata americanus ticks. The Occidentia-like species was noted to be present in all developmental stages …

The Role Of Rad51 In Trichomonas Vaginalis, Dominique Hall

University of the Pacific Theses and Dissertations

Drug resistance to the current treatments on the market is on the rise, therefore there is strong interest in understanding what could be causing the resistance, how resistance could be spreading through the population, and finding some possible new drug targets. One protein of interest is Radiation Sensitive Protein 51 (Rad51). It is a protein that is involved in homologous recombination as well as other processes such as DNA damage repair. While Trichomonas vaginalis traditionally has been known to replicate via binary fission, a modified form of closed mitosis, there is some evidence that meiosis, or at least some form …

Mutant Kras Alters Extracellular Vesicle Microrna Sorting In Pancreatic Cystic Neoplasms, Rachel L. Dittmar

Dissertations & Theses (Open Access)

Pancreatic ductal adenocarcinoma (PDAC) is among the deadliest cancers by organ site with a 5-year survival rate of just 10.8%. This is largely because most patients do not experience symptoms until the disease has already metastasized. The best hope to cure PDAC is surgery, which can only be done with a curative intent at an early stage when the disease is localized. There are no reliable circulating, body-fluid-based biomarkers to detect early stage PDAC or its precursor lesions in a timely manner for effective surgical intervention. When potential PDAC precursor lesions, such as mucinous pancreatic cysts are found, there are …

The Effects Of Ppal-1 In Arabidopsis Gamete Development, Amanda J White, Susana Perez-Martinez, Mark P. Running

The Cardinal Edge

Prenylation is a type of post-translational modification in which a 15- or 20-carbon lipid is added to the carboxyl (C) terminus of the protein. Arabidopsis thaliana contains the PROTEIN PRENYLTRANSFERASE ALPHA SUBUNIT-LIKE (PPAL) gene, which encodes a protein with homology to the α-subunits of the three known prenylation enzymes, PFT, PGGT, and Rab-GGT. We previously identified two mutations in PPAL, one of which is ppal-1, which contains a T-DNA insertion in the fourth intron. We have previously observed that self-fertilizing heterozygous ppal-1 plants produce progeny in which homozygous ppal-1 is underrepresented. This project attempts to ascertain …

Phylogenomics And Population History Of Cichlid And Live-Bearing Fish Species In Lowland Neotropical Rivers, Konrad Taube

College of Science and Health Theses and Dissertations

Within Middle America, cichlids and poeciliids account for more than half of the fish biodiversity. This richness in fish fauna highlights the complexity of Middle American biogeography: no other continental area on earth contains within its range the unparalleled abundance of secondary freshwater fish species (fish that can tolerate both saltwater and freshwater). Research into the biogeography of widely distributed Middle American freshwater fish is essential to understanding this unique region.

Three species of freshwater fishes (Belonesox belizanus – Pike killifish, Vieja maculicauda – Black belt cichlid, and Gambusia nicaraguensis – Nicaraguan mosquitofish) are widely distributed across rivers on …

You Are What You Eat — Exploring The Microbiome Through Inquiry-Based Labs. Microbiome Lesson Plans, Karla S. Fuller

Open Educational Resources

If these commonly used spices have the ability to inhibit pathogenic bacterial growth, could they also potentially inhibit the growth of normal, harmless bacteria that live in your body? In this lab, we will test common bacteria for resistance to food additives.

Changes In Gene Sequence That Cause Discordances Involving Disease In Monozygotic Twins, Kacie Jacques

Thinking Matters Symposium

Identical twins or, monozygotic twins, occur when the egg in a mother is fertilized, but one zygote divides into two separate embryos. Monozygotic twins are considered to be genetically identical, but most twins often display discordances, some involving diseases or disorders. Some of these differences are due to environmental factors. For example, one twin may have diabetes due to diet. Recent literature has shown that some differences in monozygotic twins may be due to changes in gene sequence, as opposed to random, environmental or epigenetic factors. Identical twins from pedigrees with familial disease often show discordances. When looking at schizophrenia …

The Evolution Of Mimicry; The Doublesex Gene, Aisha Hill

Thinking Matters Symposium

Many butterfly species use mimicry in order to increase their chance of survival. In Batesian mimicry, non toxic butterflies mimic the wing patterns, colors, and shapes of another species that is toxic to predators. Swallowtail butterflies (Papilio polytes) are well-known Batesian mimics, and also display sexual dimorphism with distinct differences between the sexes. Sex limited mimicry is common. The female butterfly may mimic an inedible red-bodied swallowtail, such as the common rose (Pachliopta aristolochiae), or she may be non-mimetic. The male butterfly is non-mimetic. This is a review of recent research into the origin and evolution …

Examining A Functional Interaction Between Chromatin Remodeler Chd1 And Histone H1 In D. Melanogaster, Breanna Kim

Scripps Senior Theses

Chromodomain-helicase-DNA-binding-protein-1 (CHD1) is a highly conserved ATP- dependent remodeling protein. It is localized to active genes and directs nucleosome spacing, while its loss has been linked to various human diseases, such as human prostate cancer. In Drosophila, CHD1 is important for fertility and wing development, and overexpression of CHD1 leads to severe wing vein defect phenotypes. The Linker Histone H1, which is known for maintaining heterochromatin and is associated with inactive genes, had been previously identified as a possible functional partner of CHD1, though the exact nature of their interaction is unclear. I undertook a genetic approach to examining the …

Composition And Homology In The Taxonomic Classification Of Escherichia Coli, Tanya Irani

Theses and Dissertations (Comprehensive)

As new techniques have been introduced, specifically the possibility of complete genome sequencing, better methods of defining bacterial species have also been proposed. One of the most recently proposed methods, using bioinformatic techniques, is to calculate the average nucleotide identity (ANI) between the homologous genome segments of different isolates. Another method for species discrimination that has been tested successfully is the similarity of DNA compositional signatures. However, in a recent update, DNA signatures split the available Escherichia coli complete genomes into three groups. To check if this result was consistent with such genomes belonging to different species, we tested methods …

A Cophylogenetic Analysis Of Fungus Gardening Ants And Their Symbiotic Fungi, Katherine Beigel

Biology Theses

Fungus-growing ants (Tribe Attini) and their fungal cultivars share a 50-million-year coevolutionary history. Large scale phylogenetic analyses depict a strong co-phyletic signal among ants and their farmed fungi yet fungus sharing among unrelated ant lineages is somewhat widespread. An overview of sharing has been hampered by a lack of genetic markers that exhibit intraspecific variation and surveys across geographic regions. For example, previous studies have shown similar sequences of the internal transcribed spacer (ITS) region of fungus in different species of Trachymyrmex, suggesting that these ant species are farming the same fungal clone. To examine whether this was a …