Genetics and Genomics Commons^™

Concentrating On Carbon Concentration In Algae, Chandra Davies, Steven Burgess

PRECS student projects

Carbon Concentrating Mechanisms Improve Photosynthesis Rates in Low-Carbon Environments. CCMs allow the aggregation of carbon near the site of rubisco, that way even small amounts of available carbon are being utilized.

Yes, this is important to you!

Albeit somewhat indirectly, but massively nonetheless! Algae are a driving force behind the global carbon cycle, they sequester CO2 in the oceans. Understanding the mechanisms behind the tiny marine alga O. tauri gives us a better understanding of a vital global process.

Polinators In Peril - Are Illinois Native Bees Getting Smaller?, Anthony Lamb, Tristan Barley, Adam Dolezal

PRECS student projects

Why it matters.

Pollination services provided by native bees are an important natural process, providing ~150 billion dollars globally in agricultural gains.

A bee’s body size is a trait that is an important indicator of the nutritional environment. A loss of habitat results in a loss of rich nutritional environments as flowers and resource become more fragmented and scarcer.

It has been discovered that a bee’s body size is a determinant of their foraging range. The smaller the bee, the less distance they can travel for food, therefor, the more susceptible they are to habitat loss and resource limitation.

Exploration Of Squash Plant Floral Volatiles Influencing Beetle Attraction, Olivia Barrett, Nicholas Seiter, Esther Ngumbi, Joseph Spencer, Sarah Hind

PRECS student projects

Flowers emit volatiles to attract pollinators, but these volatiles can also attract pest insects. Our study builds on earlier findings that showed that cucumber beetle attraction to squash flowers is mediated by volatile release and cucurbitacin accumulation (Theis, 2014, DOI: 10.3732/ajb.1400171). Of the three main domesticated squash species, only a few varieties of Cucurbita maxima had large quantities of floral volatiles and cucurbitacin (Andersen and Metcalf, 1987, doi: 10.1007/BF01020152); however, these studies were limited in the number of varieties that were examined. Here, we increased the number of C. maxima varieties examined, to identify patterns in floral volatile production, with …

How To Quantify Female Mate Preference In Threespine Stickleback, Kaithren Garcia, Megan Tucker, Meghan Maciejewski, Usan Dan, Alison M. Bell

PRECS student projects

Social behavior is diverse. For example, males from two stickleback ecotypes (whites and commons, Fig. 1) are highly divergent in courtship and parental care behavior [1]. Little is known about ecotypic differences in female behavior. In this study, we develop methods to quantify female preference in this system.

Intra- And Interspecific Variation In Tadpole Lateral Line Cells, Sarah Porth, Lisa Surber, Eva Fischer

PRECS student projects

Background

• The lateral line is a sensory system that detects motion and pressure in fish & larval amphibians.
• The sensory end organs are called neuromasts.
• A gosner stage describes the 46 stages of tadpole development

Hypothesis: We hypothesize that the number of neuromasts will vary more between species than within a species.

Stressed Out: Why Does Ancient Maize Thrive In High-Stress Conditions?, Alexander C. Lozano, Aaron Mleziva, Esther Ngumbi

PRECS student projects

Why is understanding stress response in maize so important?

• Maize, along with rice and wheat, provide at least 30% of calories to over 4.5 billion people
• Increases in flooding events has heavily impacted natural vegetation and crop production
• Combinatorial stresses, particularly flooding and herbivory, remain understudied for both modern and ancient verities of maize
• Ancient maize may be a superior genetic resource for flood-tolerant corn

Exploring Amaranth’S Color Palette: Linking Phenotype, Plant Adaptation, And Human Health, Sarah Redman, Chance Riggins Ph.D.

PRECS student projects

Amaranthus is a genus containing species that are highly desirable, yet underutilized crops and species that are highly despised pernicious agricultural weeds.

• Cultivated species are primarily grown as nutritious pseudograins, colorful ornamentals, or leafy greens and are recognized for tolerance to heat, drought, and salinity.
• Weedy amaranths possess similar adaptive traits, in addition to evolved resistance to numerous herbicides, and pose severe challenges to global agriculture.
• Plant pigments (i.e., betalains, carotenoids) are central to understanding this impressive diversity of phenotypes and adaptive traits.

Exploring The Functionality Of Putative Bop3 Post-Translational Modifications, Liliya Tkachuk

Honors Scholars Collaborative Projects

All eukaryotic cells require that transcribed mRNAs undergo export form the nucleus to the cytoplasm where they can be translated into proteins. This process requires a host of proteins which are conserved between the unicellular budding yeast, S. cerevisiae, and humans. During this process, Mex67 and other associated proteins facilitate the mRNA to travel across the nuclear pore complex (NPC), doorways embedded in the nuclear envelope. Upon the exit of mRNA, Mex67 is released and recycled back into the nucleus to facilitate the export of more mRNA. This occurs through the action of Dbp5, whose activity is regulated through …

Comparative Modeling And Evolutionary Comparison Of Serine Protease, A Timber Rattlesnake Venom Protein, Qawer Ayaz

Theses

The aim of this study is to create a homology model of VG35 serine protease and evaluate the evolutionary comparison of secondary structure on basis of protein model using YASARA. This method was furthermore used to predict the potential epitopes which can help in the investigation of future studies.

The VG35 was used to run a BLAST search which gave most resembled serine protease of different species which was then translated and modeled in YASARA. The modeled protein data was then used to determine the secondary structure. This was then used for evolutionary comparison of all proteins to VG35. Then …

Molecular Evidence Of Cryptic Hybridization In The Japanese Nezasa Bamboos (Pleioblastus Section Nezasa), Ryan Long

Theses

The genus Pleioblastus is a complex group of Southeast Asian temperate bamboos with 7-21 species, depending on taxonomic authority. This study tests the hypothesis that taxonomic complexity in this group is due in part to hybridization and subsequent backcrossing in natural populations, resulting in a reticulate evolutionary history and a contemporary species assemblage that includes cryptic hybrids. This hypothesis is supported by recent research on the temperate bamboos that revealed intergeneric hybrids involving Pleioblastus and other genera of temperate bamboos (Triplett and Clark, 2021). The objective of the current study was to use data from Amplified Fragment Length Polymorphism (AFLP) …

The Roles Of Individual Proteins In De Novo Recruitment Of Pcg Repressive Complexes To Giant, Anni Kum

Biological Sciences Theses and Dissertations

Epigenetic gene regulation is the process by which external factors regulate the genome. This research studies Polycomb Group (PcG) proteins which function as epigenetic agents that work together in complexes to maintain gene silencing for multiple cellular generations. Drosophila melanogaster PcG proteins can be organized into three canonical complexes: Pho-RC, PRC1, and PRC2. Though there are multiple proposed models for the order of recruitment, it is generally accepted that PhoRC, PRC1, and PRC2 interact with each other to stably recruit to a target gene. Since these proteins are highly conserved, this project studies PcG proteins in the model organism, Drosophila …

Characterization Of Hemocytes In Amblyomma Americanum And Investigation Of Traf6’S Role In Proliferation Of Hemocytes In Response To Infection, Jacquelyn T. May

Electronic Theses and Dissertations

Amblyomma americanum is a medically important vector in the southeast United States. Cellular and molecular aspects of the immune system of this species were examined. To investigate cellular processes, hemocytes produced in response to gram-negative infection were characterized according to their ultrastructure. Four hemocyte types were identified: prohemocytes, plasmatocytes, type-I granulocytes, and type-II granulocytes. To elucidate molecular processes, we investigated AamTRAF as an immune-related gene by silencing the gene using RNAi then quantifying the hemocytes after inoculation with gram-negative and positive bacteria. It was found that silencing AamTRAF caused a decrease in hemocyte proliferation in response to gram-positive but not …

Forming Connections: The Cell-Autonomous Roles Of Gata3 And Neurod1 In Developing Auditory Neurons, Elizabeth Madison Ketchum

Dissertations

Hearing loss is the most prevalent sensory disorder, yet current treatment options are restricted to hearing aids and cochlear implants. Both treatment options require the presence and proper formation of inner ear auditory afferent neurons, known as spiral ganglion neurons (SGNs). In many patients with hearing loss, these neurons are either not present or are improperly organized, making current therapeutic options nonviable. Although it would be ideal to preserve functioning SGNs or to regenerate them, we are still learning how SGNs develop and form their projections to their peripheral and central targets. Therefore, a better understanding of the genes involved …

Cryptic Hybridization In The Temperate Bamboos: Is Pleioblastus Simonii A Species Of Hybrid Origin?, Morgan Brown

Theses

Japanese river bamboo (Pleioblastus simonii, ‘medake,’‘kawadake’) is an ecologically important species of temperate bamboo native to Japan. This species is widely known and historically important in Japanese rural farm life. Based on morphological data, Japanese river bamboo is classified in Pleioblastus section Medakea (Poaceae: Bambusoideae) along with five other Japanese species, which are collectively considered to represent a phylogenetically distinct lineage. However, recent studies suggest that Japanese river bamboo may have arisen as a result of previously undetected hybridization (i.e., cryptic hybridization), while also calling into question the diversity of section Medakea. The role of hybridization in natural plant populations …

Determining The Role Of High-Sugar Diets On Ovarian Function In Drosophila Melanogaster, Emma Otey

Senior Theses

The prevalence of obesity in the United States has increased drastically and the effects of obesity on human physiology are not fully known at this point. It has been noted that there is a significant decrease of fertility rates in obese women. In order to study how exactly these high-sugar or high-fat diets are impacting fertility, Drosophila can be used as a model organism. The use of Drosophila as a model organism for humans is due to the many conserved molecular and systematic mechanisms, namely ovarian function, as well as conserved physiological responses to obesity and obesogenic diets. This study …

Genomic Analysis Of Metabolic Differences Found In Clostridium Perfringens That Cause Necrotic Enteritis In Poultry, Connor M. Aylor

School of Veterinary and Biomedical Sciences: Dissertations, Theses, and Student Research

Clostridium perfringens is a common member of gut microbiota in healthy animals, but can also be an important pathogen in human and veterinary medicine. It produces several protein toxins that contribute to both histotoxic and enteric diseases in animals. Necrotic enteritis in poultry has been associated with the NetB toxin of C. perfringens; however, this toxin alone is insufficient to cause disease in infected chickens. While considerable research has focused on the presence of toxins and virulence factors, little has been done to assess the function of metabolic factors on the ability of the bacteria to cause disease. …

Characterization Of A Medium-Dependent Streptomyces Developmental Mutant, Dylan Gray, Jennifer A. Bennett

Undergraduate Distinction Papers

Streptomyces coelicolor is a soil-dwelling, Gram-positive Actinobacteria. Streptomyces species produce thousands of secondary metabolites which include many antibiotics used in medicine today. In Streptomyces development, as colonies grow, secondary metabolites are produced, and ultimately mature spores are dispersed. The production of each of these secondary metabolites in wild-type Streptomyces is determined by a distinct biosynthetic pathway. In order to identify new genes for antibiotic production and other aspects of development, an engineered Tn5-derived transposon was used to mutagenize wild-type cells in vivo and produce single, stable insertions.

Colonies that were visually distinct from the wild type were selected for further …

Fragile Foal Syndrome: Its Past, Present, And Future, Alena Martin, Alena M. Martin

Honors College Theses

Though Fragile Foal Syndrome (FFS) has been around for some time, the public interest in FFS is recent. The hype spread rapidly from a public media announcement that a stallion at a prominent North American stud farm was a carrier (Brooks, 2021). As with most genetic mutations, FFS likely arose due to the increased inbreeding that results from human selection (Orlando & Librado, 2019). Fragile Foal Syndrome affects the enzyme responsible for developing the connective tissues. Two recent case studies highlighted the devastating effect of FFS on every part of the equine body (Metzger, et al., 2020; Grillos, 2021). So …

Investigation Of Oncogenic Ras And Endoplasmic Reticulum-Mitochondria Calcium Flux And Their Relationship In The Context Of Tumorigenesis, Emma Anderson

Senior Honors Theses

Intracellular calcium as a signaling molecule is a pervasive feature of cellular pathways, especially those that manage internal homeostasis and transitions through the cell cycle, so much so that regulated, responsive calcium flux between the endoplasmic reticulum (ER) and the mitochondria has been suggested to play a major role in cancer development. Another factor commonly implicated in tumorigenesis is RAS, an oncogene that controls signaling for many pathways that are also regulated by calcium. While both calcium and oncogenic RAS signaling are implicated in cancer development, possible links between them have yet to be determined. The identification of these links …

An Overview Of The Forensic Analysis And Use Of Non-Human Dna, Kaelyn Long

Senior Honors Theses

DNA is present in every living organism on Earth. DNA is also present in a few non-living biological agents such as DNA-containing viruses, and is additionally unique to particular groups of organisms and often even to individuals. This characteristic allows DNA to be quite useful in forensic investigations. This study takes an in-depth look at the forensic use of non-human DNA. DNA analysis is a key component of many forensic investigations, but the majority of these analyses are focused on human DNA. This review examines the ways in which non-human DNA can be useful to forensic investigations. The various unique …

Sars-Cov-2 Reveals That Chimeric Agents Are The Bioweapons Of The Future, Rachel Craig

Senior Honors Theses

Bioweapons programs have existed since their development during the Cold War. These biowarfare programs initially utilized naturally occurring pathogens capable of infecting crops, livestock populations, and human populations. Anthrax is a widely exploited bioagent responsible for attacks ranging from the Germans’ deployment in World War I to the mailing of anthrax through the postal service in attempts on U.S. senators’ lives. With the development of genetic manipulations, the Soviet Union began modifying anthrax to resist detection and treatment. With the continued advancement of science and technology, a new bioagent has entered the scene – the man-made chimeric virus. Chimeric viruses …

Exploring Genetic Counselors’ Experiences, Language, And Discussion Of Consanguinity In Clinical Practice: A Multinational Perspective, Romy Isabel Fawaz

Theses and Dissertations

Consanguinity, defined as the degree of relationship between closely related individuals, is a widespread historical practice that is not specific to any one religion, population, or region of the world. Genetic counselors regularly ask whether a reproductive couple is consanguineous as part of the review of family history and risk assessment. Couples who are in consanguineous relationship may be subject to negative attitudes and stigma, potentially due to cultural differences and norms at a population level and these attitudes may interplay with questions, answers, and discussions around consanguinity. We hypothesized that genetic counselors may experience some level of discomfort discussing …

Evaluation Of The Perceived Benefit Of A Psychiatric Resource For Parents Of Children With 22q11.2 Deletion Syndrome, Kayla Blankenship

Theses and Dissertations

The objective of this study was to assess the perceived utility of an educational resource booklet addressing the psychiatric manifestations and mental health considerations within 22q11.2 deletion syndrome (22q11.2DS).

Seventy-three parents of children with 22q11.2DS completed online surveys before and after reading the booklet. The surveys assessed personality factors and feelings of empowerment, worry, self-stigma, and ability to tolerate uncertainty.

Participants reported that the booklet was easy to understand, provided better understanding of 22q11.2DS and mental illness, answered questions about mental illness associated with the condition, improved knowledge of strategies for protecting the mental health of children with the condition, …

Assessing Parental Satisfaction Of Current Fragile X Syndrome Resources Provided At Diagnosis, Megan Michalski

Theses and Dissertations

Diagnosis of a child with fragile X syndrome (FXS) is associated with parental anxiety. Existing literature recommends FXS resources, but there has not been a formal assessment of when parents learn about these resources, or their satisfaction with them. Studies have demonstrated negative feelings surrounding the diagnostic experience of FXS. This exploratory analysis assessed the gap in knowledge on parental satisfaction of the recommended resources from healthcare providers during the time of diagnosis. We predicted parents would not be satisfied with the way resources were presented to them. We discussed parental satisfaction or dissatisfaction, utility of the recommended resources, and …

Examining Parental Disclosure To Unaffected Siblings Of Children Diagnosed With Rett Syndrome, Rachel Nicely

Theses and Dissertations

Rett syndrome is a neurodevelopmental disorder that is inherited in an X-linked dominant manner due to pathogenic variants in the MECP2 gene that are almost always de novo. It is one of the most common causes of developmental delay and intellectual disability in females and occurs in about 1 in 10,000 females. While there is valuable literature surrounding the impact of a neurodevelopmental diagnosis on unaffected siblings, there are no articles about the impact of a disclosure of Rett syndrome to unaffected siblings and the needs of parents during this disclosure. This study aimed to examine the disclosure process …

Sexual Health Education For Children With Neurodevelopmental Disorders: Genetic Counselor And Pediatrician Perspectives, Mary Catherine Smith

Theses and Dissertations

Many barriers prevent individuals with disabilities from receiving appropriate sexual health education (SHE), including deficits in socialcommunication skills and lack of resources and trained educators. There are few guidelines specifically addressing how to accommodate for providing SHE to individuals with disabilities. Healthcare professionals who are trained in working with adolescents with disabilities, such as pediatric genetic counselors, developmental-behavioral pediatricians (DBP), and neurodevelopmental disabilities (NDD) subspecialty pediatricians, could fill this gap. The purpose of the current study was to assess what informational items pediatric genetic counselors, DBP, and NDD subspecialty pediatricians felt were most essential to include in SHE for children …

Infertility Education For Men With Cystic Fibrosis And Its Effects: Outlooks On Fertility And Birth Control, Allison Elizabeth Perez Szczepanski

Theses and Dissertations

Many men with Cystic Fibrosis (CF) are infertile; however, few studies have evaluated fertility outlook of men with CF since the advent of modulator therapy. As predicted survival and quality of life improve, family planning is an area of increased interest for the CF community. The current study surveyed men with CF to explore their outlook on fertility, family planning, and birth control use with the option to receive a home fertility test and follow-up interview with study staff.

Seventy-five men with CF completed the survey and 53 (71%) believed they were likely infertile. Most recalled learning about infertility between …

The Utilization Of Healthcare Chaplains By Genetic Counselors, Elizabeth G. Hollingsworth

Theses and Dissertations

Healthcare chaplains prioritize the spiritual and religious care a patient and their family may need during their healthcare experience. This study investigated the current utilization of healthcare chaplains by genetic counselors, as well as the ability, in time and skill, of the healthcare chaplains to see genetic counseling patients. Lastly, the study investigated if genetic counseling patients would accept a referral to meet with a healthcare chaplain. We hypothesized that genetic counselors are not utilizing healthcare chaplains, healthcare chaplains have the ability to see genetic counseling patients, and genetic counseling patients would consider meeting with a healthcare chaplain.

This study …

Describing The Experiences Of Canadian Genetic Counseling Students Studying In The United States, Madeline Emma Ladouceur

Theses and Dissertations

There are fewer and smaller genetic counseling master’s programs in Canada compared to the United States, which makes it challenging for prospective Canadian students to train in their home country. We investigated which factors influenced Canadian students to apply or not to apply to American genetic counseling training programs, as well as the experiences of those Canadians who attended a program in the United States. We predicted that Canadian students applied to American genetic counseling training programs primarily because of limited training opportunities in Canada and a competitive application process across North America. We used a mixed method, online survey …

Centers For Mendelian Genomics: A Decade Of Facilitating Gene Discovery, Samantha M Baxter, Jennifer E Posey, Nicole J Lake, Nara Sobreira, Jessica X Chong, Steven Buyske, Elizabeth E Blue, Lisa H Chadwick, Zeynep H Coban-Akdemir, Kimberly F Doheny, Colleen P Davis, Monkol Lek, Christopher Wellington, Shalini N Jhangiani, Mark Gerstein, Richard A Gibbs, Richard P Lifton, Daniel G Macarthur, Tara C Matise, James R Lupski, David Valle, Michael J Bamshad, Ada Hamosh, Shrikant Mane, Deborah A Nickerson, Heidi L Rehm, Anne O'Donnell-Luria

Faculty, Staff and Student Publications

PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration.

METHODS: Over the past 10 years, the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution.

RESULTS: We highlight the cumulative gene discoveries facilitated by the program, biomedical research leveraged by the approach, and the larger impact on the research community. Beyond generating a list of gene-phenotype relationships …