Digital Commons Network^™

A Comprehensive Review Of Duchenne Muscular Dystrophy: Genetics, Clinical Presentation, Diagnosis, And Treatment, Kylie A. Limback, William D. Jacobus, Amber Wiggins-Mcdaniel, Ramon E. Newman, Robert A. White

Faculty Publications

Duchenne Muscular Dystrophy (DMD) is a genetic disorder involving progressive muscle deterioration leading to loss of mobility, cardiomyopathy, and respiratory complications leading to an early death by the fourth decade of life. Males are affected more often as DMD results from a mutation in the dystrophin gene residing on the X chromosome. The DMD genetic mutation results in a complete functional lack of dystrophin, which culminates as an inadequate connection between the intracellular actin filaments and the extracellular skeleton of muscle. Boys affected by DMD clinically present with muscle weakness before age five, are often wheelchair-bound by age 12, and …

Clinical Characteristics And Electrophysiologic Properties Of Scn5a Variants In Fever-Induced Brugada Syndrome, Gan-Xiao Chen, Hector Barajas-Martinez, Giuseppe Ciconte, Cheng-I Wu, Michelle M Monasky, Hao Xia, Bian Li, John A Capra, Kai Guo, Zhong-He Zhang, Xiu Chen, Bo Yang, Hong Jiang, Gary Tse, Chloe Miu Mak, Yoshiyasu Aizawa, Michael H Gollob, Charles Antzelevitch, Arthur A M Wilde, Carlo Pappone, Dan Hu

Division of Cardiology Faculty Papers

Background: Brugada syndrome (BrS) is a severe inherited arrhythmia syndrome that can be unmasked by fever.

Methods: A multicentre clinical analysis was performed in 261 patients diagnosed with fever-induced BrS, including 198 (75.9%) and 27 (10.3%) patients who received next-generation genetic sequencing and epicardial arrhythmogenic substrate (AS) mapping, respectively.

Findings: In fever-induced BrS patients, pathogenic or likely pathogenic (P/LP) SCN5A variant carriers developed fever-induced BrS at a younger age, and more often in females and those of Caucasian descent. They exhibited significant electrophysical abnormalities, including a larger epicardial AS area, and more prolonged abnormal epicardial electrograms. During a median follow-up …

Gator2-Dependent Mtorc1 Activity Is A Therapeutic Vulnerability In Foxo1 Fusion-Positive Rhabdomyosarcoma, Jacqueline Morales, David V. Allegakoen, José A. Garcia, Kristen Kwong, Pushpendra K. Sahu, Drew A. Fajardo, Yue Pan, Max A. Horlbeck, Jonathan S. Weissman, W. Clay Gustafson, Trever G. Bivona, Amit J. Sabnis

Student Publications

Oncogenic FOXO1 gene fusions drive a subset of rhabdomyosarcoma (RMS) with poor survival; to date, these cancer drivers are therapeutically intractable. To identify new therapies for this disease, we undertook an isogenic CRISPR-interference screen to define PAX3-FOXO1-specific genetic dependencies and identified genes in the GATOR2 complex. GATOR2 loss in RMS abrogated aa-induced lysosomal localization of mTORC1 and consequent downstream signaling, slowing G1-S cell cycle transition. In vivo suppression of GATOR2 impaired the growth of tumor xenografts and favored the outgrowth of cells lacking PAX3-FOXO1. Loss of a subset of GATOR2 members can be compensated by direct genetic activation of mTORC1. …

Genetic Variants Within Noggin, Col1a1, Col5a1, And Igf2 Are Associated With Musculoskeletal Injuries In Elite Male Australian Football League Players: A Preliminary Study, Ysabel Jacob, Ryan S. Anderton, Jodie L. Cochrane Wilkie, Brent Rogalski, Simon M. Laws, Anthony Jones, Tania Spiteri, Dana Hince, Nicolas H. Hart

Research outputs 2022 to 2026

Introduction:

Australian Football is a dynamic team sport that requires many athletic traits to succeed. Due to this combination of traits, as well as technical skill and physicality, there are many types of injuries that could occur. Injuries are not only a hindrance to the individual player, but to the team as a whole. Many strength and conditioning personnel strive to minimise injuries to players to accomplish team success.

Purpose:

To investigate whether selected polymorphisms have an association with injury occurrence in elite male Australian Football players.

Methods:

Using DNA obtained from 46 elite male players, we investigated the associations …

Genetic Correlation And Causality Assessment Between Post-Traumatic Stress Disorder And Coronary Artery Disease-Related Traits, Wole Akosile, Emmanuel Adewuyi

Research outputs 2022 to 2026

Consistent evidence from observational studies supports a risk-increasing association between post-traumatic stress disorder (PTSD) and coronary artery disease (CAD); however, the mechanisms underlying their relationship remain poorly understood. This study assesses the genetic correlation and potential causal relationship between PTSD and CAD-related traits. We analysed genome-wide associated study summary data of PTSD (cases = 23,212, controls = 151,447) with CAD-related traits (sample size up to 408,458 individuals) to achieve our study objectives. Findings revealed a significant and positive genetic correlation between PTSD and CAD (rG = 0.19, p = 3.47 × 10 – 2), and between PTSD and CAD traits …

Shared Brain And Genetic Architectures Between Mental Health And Physical Activity, Wei Zhang, Sarah E. Paul, Anderson M. Winkler, Ryan Bogdan, Janine D. Bijsterbosch

School of Medicine Publications and Presentations

Physical activity is correlated with, and effectively treats various forms of psychopathology. However, whether biological correlates of physical activity and psychopathology are shared remains unclear. Here, we examined the extent to which the neural and genetic architecture of physical activity and mental health are shared. Using data from the UK Biobank (N = 6389), we applied canonical correlation analysis to estimate associations between the amplitude and connectivity strength of subnetworks of three major neurocognitive networks (default mode, DMN; salience, SN; central executive networks, CEN) with accelerometer-derived measures of physical activity and self-reported mental health measures (primarily of depression, anxiety …

The Genetic Contribution To Solving The Cocktail-Party Problem, Samuel R. Mathias, Emma Knowles, Josephine Mollon, Amanda Rodrigue, Mary K. Woolsey, Rene L. Olvera, Juan M. Peralta, Satish Kumar, Harald H. H. Goring, Ravi Duggirala, Joanne E. Curran, John Blangero, David C. Glahn

School of Medicine Publications and Presentations

Communicating in everyday situations requires solving the cocktail-party problem, or segregating the acoustic mixture into its constituent sounds and attending to those of most interest. Humans show dramatic variation in this ability, leading some to experience real-world problems irrespective of whether they meet criteria for clinical hearing loss. Here, we estimated the genetic contribution to cocktail-party listening by measuring speech-reception thresholds (SRTs) in 425 people from large families and ranging in age from 18 to 91 years. Roughly half the variance of SRTs was explained by genes (h 2 = 0.567). The genetic correlation between SRTs and hearing thresholds …

Description, Diversity, And Phylogeography Of The North American Spider Beetle (Coleoptera: Ptinidae) Genus Coleotestudo, Robert Chambliss

Masters Theses & Specialist Projects

A new genus, Coleotestudo, is proposed for the American species currently placed in the genus Niptus LeConte and are transferred herein. Two new species from Mexico are also described as C. potosi n. sp. and C. nahua n. sp. Distinguishing morphological characteristics for the North American Coleotestudo species are given. The combined set of morphological evidence, DNA sequence data, and a Western New World distribution strongly support the hypothesis that Coleotestudo does not share a recent common ancestor with N. hololeucus and both represent unrelated clades of spider beetles.

During the summer of 2021, Coleotestudo was collected mainly from …

Ms 067 Guide To William J. Schull, Phd Papers (1945-2014), William J. Schull (1922-2017)

Manuscript Finding Aids

The William J. Schull papers contains correspondence, interoffice memorandums, presentations, scientific works, journal reprints, monograph drafts, report drafts, travel diaries, travel receipts and itineraries, travel ephemera, other printed material, news clips, exhlbit material, photographs, 35 mm slides, audios tapes, video tapes, film, maps and realia in eighty-six cubic feet of material documenting his the life and works. Over 60% of the collection documents his life and work at the Atomic Bomb Casualty Commission (ABCC) and Radiation Effects Research Foundation (RERF) in Japan. See more at MS 067.

Sex Differences In The Genetic Architecture Of Cognitive Resilience To Alzheimer’S Disease, Jaclyn M. Eissman, Logan Dumitrescu, Emily R. Mahoney, Alexandra N. Smith, Shubhabrata Mukherjee, Michael L. Lee, Phoebe Scollard, Seo Eun Choi, William S. Bush, Corinne D. Engelman, Qiongshi Lu, David W. Fardo, Emily H. Trittschuh, Jesse Mez, Catherine C. Kaczorowski, Hector Hernandez Saucedo, Keith F. Widaman, Rachel F. Buckley, Michael J. Properzi, Elizabeth C. Mormino, Hyun Sik Yang, Theresa M. Harrison, Trey Hedden, Kwangsik Nho, Shea J. Andrews, Douglas Tommet, Niran Hadad, R. Elizabeth Sanders, Douglas M. Ruderfer, Katherine A. Gifford, Xiaoyuan Zhong, Neha S. Raghavan, Badri Vardarajan, Margaret A. Pericak-Vance, Lindsay A. Farrer, Li San Wang, Carlos Cruchaga, Gerard D. Schellenberg, Nancy J. Cox, Jonathan L. Haines, C. Dirk Keene, Andrew J. Saykin, Eric B. Larson, Reisa A. Sperling, Richard Mayeux, Michael L. Cuccaro, David A. Bennett, Julie A. Schneider, Paul K. Crane, Angela L. Jefferson, Timothy J. Hohman

Sanders-Brown Center on Aging Faculty Publications

Approximately 30% of elderly adults are cognitively unimpaired at time of death despite the presence of Alzheimer's disease neuropathology at autopsy. Studying individuals who are resilient to the cognitive consequences of Alzheimer's disease neuropathology may uncover novel therapeutic targets to treat Alzheimer's disease. It is well established that there are sex differences in response to Alzheimer's disease pathology, and growing evidence suggests that genetic factors may contribute to these differences. Taken together, we sought to elucidate sex-specific genetic drivers of resilience.

We extended our recent large scale genomic analysis of resilience in which we harmonized cognitive data across four cohorts …

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 …

Teaching Central Dogma Of Biology Using Cell Free Environment, Lukas Nelson, Sudeshna Roy, Bobbi J. Bohnet, Tracy Chase, Brian Labelle, Nicholas Butzin, Madhav P. Nepal

iLEARN Teaching Resources

In this lesson plan, students will learn and visualize how genetic information coded in DNA is transcribed into RNA which is further translated into protein. This entire process, DNA->RNA-> Protein, is known as the Central Dogma of Molecular Biology. This hands-on module is designed for 9^th through 12^th grade students. To adjust the difficulty level of the modules, some aspects can be modified or removed based on the grade. This module includes an instructional slide show, video tutorial, assessment options, and links to additional resources.

Ms 146 Guide To Thomas Matney, Phd Papers (1929-2011), Thomas Matney (1928-2010)

Manuscript Finding Aids

The Thomas Matney papers includes materials from 1926 through 2011 relating to Dr. Matney’s research in genetics, Dr. Matney’s teaching materials, and his research as a community activist into the support and well being of at-risk children. Professor Matney made important contributions to scientific understanding of cancer-causing agents and the genetic mechanisms that underlie the development of cancer. See more at MS 146.

Genomic Tools Reveal Complex Social Organization Of An Invasive Large Mammal (Sus Scrofa), Chelsea L. Titus, Courtney F. Bowden, Timothy J. Smyser, Stephen L. Webb, James C. Beasley

USDA Wildlife Services: Staff Publications

A comprehensive understanding of sociality in wildlife is vital to optimizing conservation and management efforts. However, sociality is complicated, especially for widely distributed species that exhibit substantive behavioral plasticity. Invasive wild pigs (Sus scrofa), often representing hybrids of European wild boar and domestic pigs, are among the most adaptable and widely distributed large mammals. The social structure of wild pigs is believed to be similar to European wild boar, consisting of matriarchal groups (sounders) and solitary males. However, wild pig social structure is understudied and largely limited to visual observations. Using a hierarchical approach, we incorporated genomic tools …

Investigating The Role Of Bs21 In Vancomycin-Resistant Staphylococcus Aureus, Daniel Floyd

Senior Honors Projects

Staphylococcus aureus is a Gram-positive pathogenic bacterium commonly known for being the causative organism of staph infections in clinical settings. In previous literature, it has been observed that mutations in certain genes in S. aureus can result in resistance to commonly used antibiotics. Specifically, mutations in the gene rpsU, encoding the ribosomal protein bS21, have been present in strains of S. aureus resistant to the antibiotic vancomycin. The aim of my project is to validate these findings by creating a strain of S. aureus without bS21 and performing an antibiotic assay to determine the level of resistance to vancomycin …

Comparison Of Cone Mosaic Metrics From Images Acquired With The Spectralis High Magnification Module And Adaptive Optics Scanning Light Ophthalmoscopy, Niamh Wynne, Heather Heitkotter, Erica N. Woertz, Robert F. Cooper, Joseph Carroll

Biomedical Engineering Faculty Research and Publications

Purpose: To compare cone mosaic metrics derived from adaptive optics scanning light ophthalmoscopy (AOSLO) images with those derived from Heidelberg Engineering SPECTRALIS High Magnification Module (HMM) images.

Methods: Participants with contiguous cone mosaics had HMM imaging performed at locations superior and temporal to the fovea. These images were registered and averaged offline and then aligned to split-detection AOSLO images; 200 × 200-µm regions of interest were extracted from both modalities. Cones were semi-automatically identified by two graders to provide estimates of cone density and spacing.

Results: Thirty participants with contiguous cone mosaics were imaged (10 males, 20 females; age range, …

Enpp1 Variants In Patients With Gaci And Pxe Expand The Clinical And Genetic Heterogeneity Of Heritable Disorders Of Ectopic Calcification., Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li

Department of Medicine Faculty Papers

Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a potent endogenous inhibitor of calcification. Variants in ENPP1, the gene mutated in GACI, have not been associated with classic PXE. Here we report the clinical, laboratory, and molecular evaluations of ten GACI and two PXE patients from five and two unrelated families registered in GACI Global and PXE International databases, respectively. All patients were found to carry biallelic variants in ENPP1. Among ten ENPP1 variants, one homozygous variant demonstrated uniparental disomy …

Development And Validation Of An Edna Protocol For Monitoring Endemic Asian Spiny Frogs In The Himalayan Region Of Pakistan, Muhammad Saeed, Muhammad Rais, Ayesha Akram, Maggie R. Williams, Kenneth F. Kellner, Syed A. Hashsham, Drew R. Davis

School of Earth, Environmental, and Marine Sciences Faculty Publications and Presentations

Wildlife monitoring programs are instrumental for the assessment of species, habitat status, and for the management of factors affecting them. This is particularly important for species found in freshwater ecosystems, such as amphibians, as they have higher estimated extinction rates than terrestrial species. We developed and validated two species-specific environmental DNA (eDNA) protocols and applied them in the field to detect the Hazara Torrent Frog (Allopaa hazarensis) and Murree Hills Frog (Nanorana vicina). Additionally, we compared eDNA surveys with visual encounter surveys and estimated site occupancy. eDNA surveys resulted in higher occurrence probabilities for both A. …

Tuning Between Quenching And Energy Transfer In Dna-Templated Heterodimer Aggregates, Azhad U. Chowdhury, Jonathan S. Huff, Matthew S. Barclay, Lance K. Patten, Aaron Sup, Natalya Hallstrom, Jeunghoon Lee, Paul H. Davis, Daniel B. Turner, Bernard Yurke, William B. Knowlton, Ryan D. Pensack

Materials Science and Engineering Faculty Publications and Presentations

Molecular excitons, which propagate spatially via electronic energy transfer, are central to numerous applications including light harvesting, organic optoelectronics, and nanoscale computing; they may also benefit applications such as photothermal therapy and photoacoustic imaging through the local generation of heat via rapid excited-state quenching. Here we show how to tune between energy transfer and quenching for heterodimers of the same pair of cyanine dyes by altering their spatial configuration on a DNA template. We assemble “transverse” and “adjacent” heterodimers of Cy5 and Cy5.5 using DNA Holliday junctions. We find that the transverse heterodimers exhibit optical properties consistent with excitonically interacting …

Functional Magnetic Resonance Imaging Data For The Association Between Polygenic Risk Scores For Neuroticism And Reward-Punishment Processing., Heekyeong Park, Katherine L. Forthman, Rayus Kuplicki, Teresa A. Victor, Tulsa 1000 Investigators, Hung-Wen Yeh, Wesley K. Thompson, Martin P. Paulus

Manuscripts, Articles, Book Chapters and Other Papers

Neuroticism as a personality trait represents a heritable risk for psychiatric disorders. The polygenic risk score for neuroticism (N-PRS) is used to study genetic vulnerability to neuroticism. The current data present the association of the genetic risk for neuroticism to neural reward-punishment processing using functional magnetic resonance imaging. N-PRS was computed based on the individual's genotype information and a genome-wide association study on the UK Biobank data. While individuals performed a monetary incentive delay task, their neural activations for upcoming incentives (reward: gain, punishment: loss) were measured in blood oxygen level dependent (BOLD) signals during the delay phase. Multivariate ANCOVAs …

Gene-Based Association Tests Using Gwas Summary Statistics And Incorporating Eqtl, Xuewei Cao, Xuexia Wang, Shuanglin Zhang, Qiuying Sha

Michigan Tech Publications

Although genome-wide association studies (GWAS) have been successfully applied to a variety of complex diseases and identified many genetic variants underlying complex diseases via single marker tests, there is still a considerable heritability of complex diseases that could not be explained by GWAS. One alternative approach to overcome the missing heritability caused by genetic heterogeneity is gene-based analysis, which considers the aggregate effects of multiple genetic variants in a single test. Another alternative approach is transcriptome-wide association study (TWAS). TWAS aggregates genomic information into functionally relevant units that map to genes and their expression. TWAS is not only powerful, but …

Influence Of Hydrophobicity On Excitonic Coupling In Dna-Templated Indolenine Squaraine Dye Aggregates, Olga A. Mass, Christopher K. Wilson, German Barcenas, Lan Li, Bernard Yurke, William B. Knowlton, Ryan D. Pensack, Jeunghoon Lee

Materials Science and Engineering Faculty Publications and Presentations

Control over the strength of excitonic coupling in molecular dye aggregates is a substantial factor for the development of technologies such as light harvesting, optoelectronics, and quantum computing. According to the molecular exciton model, the strength of excitonic coupling is inversely proportional to the distance between dyes. Covalent DNA templating was proved to be a versatile tool to control dye spacing on a subnanometer scale. To further expand our ability to control photophysical properties of excitons, here, we investigated the influence of dye hydrophobicity on the strength of excitonic coupling in squaraine aggregates covalently templated by DNA Holliday Junction (DNA …

Families' Healthcare Experiences For Children With Inherited Metabolic Diseases: Protocol For A Mixed Methods Cohort Study, Andrea J. Chow, Ryan Iverson, Monica Lamoureux, Kylie Tingley, Isabel Jordan, Nicole Pallone, Maureen Smith, Zobaida Al-Baldawi, Pranesh Chakraborty, Jamie Brehaut, Alicia Chan, Eyal Cohen, Sarah Dyack, Lisa Jane Gillis, Sharan Goobie, Ian D. Graham, Cheryl R. Greenberg, Jeremy M. Grimshaw, Robin Z. Hayeems, Shailly Jain-Ghai, Ann Jolly, Sara Khangura, Jennifer J. Mackenzie, Nathalie Major, John J. Mitchell, Stuart G. Nicholls

Paediatrics Publications

Introduction Children with inherited metabolic diseases (IMDs) often have complex and intensive healthcare needs and their families face challenges in receiving high-quality, family centred health services. Improvement in care requires complex interventions involving multiple components and stakeholders, customised to specific care contexts. This study aims to comprehensively understand the healthcare experiences of children with IMDs and their families across Canada. Methods and analysis A two-stage explanatory sequential mixed methods design will be used. Stage 1: quantitative data on healthcare networks and encounter experiences will be collected from 100 parent/guardians through a care map, 2 baseline questionnaires and 17 weekly diaries …

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 …

The Low Abundance Of Cpg In The Sars-Cov-2 Genome Is Not An Evolutionarily Signature Of Zap, Ali Afrasiabi, Hamid Alinejad-Rokny, Azad Khosh, Mostafa Rahnama, Nigel Lovell, Zhenming Xu, Diako Ebrahimi

Plant Pathology Faculty Publications

The zinc finger antiviral protein (ZAP) is known to restrict viral replication by binding to the CpG rich regions of viral RNA, and subsequently inducing viral RNA degradation. This enzyme has recently been shown to be capable of restricting SARS-CoV-2. These data have led to the hypothesis that the low abundance of CpG in the SARS-CoV-2 genome is due to an evolutionary pressure exerted by the host ZAP. To investigate this hypothesis, we performed a detailed analysis of many coronavirus sequences and ZAP RNA binding preference data. Our analyses showed neither evidence for an evolutionary pressure acting specifically on CpG …

Apoe Genetics Influence Murine Gut Microbiome, Diana J. Zajac, Stefan J. Green, Lance A. Johnson, Steven Estus

Physiology Faculty Publications

Apolipoprotein E (APOE) alleles impact pathogenesis and risk for multiple human diseases, making them primary targets for disease treatment and prevention. Previously, we and others reported an association between APOE alleles and the gut microbiome. Here, we evaluated effects of APOE heterozygosity and tested whether these overall results extended to mice maintained under ideal conditions for microbiome analyses. To model human APOE alleles, this study used APOE targeted replacement (TR) mice on a C57Bl/6 background. To minimize genetic drift, homozygous APOE3 mice were crossed to homozygous APOE2 or homozygous APOE4 mice prior to the study, and the resulting …

Psychological Outcomes In Advanced Cancer Patients After Receiving Genomic Tumor Profiling Results, Sabina Vatter, Timothy E. Schlub, Christine E. Napier, Megan C. Best, Nicci Bartley, Ilona Juraskova, Bettina Meiser, Mandy L. Ballinger, Barbara B. Biesecker, David Goldstein, David M. Thomas, Phyllis Butow, Members Of The Pigeon Project

IES Papers and Journal Articles

Background: Comprehensive tumor genomic profiling (CGP) offers hope for personalized treatment for cancer patients when other treatment options have been exhausted. However, receipt of nonactionable or ambiguous results could be an ongoing source of distress. We investigated patterns of hope, anxiety, depression, and CGP-specific anxiety in advanced cancer patients after receiving CGP results and 2–3months later.

Method: Participants were enrolled in a longitudinal psychosocial substudy, embedded in the Molecular Screening and Therapeutics Program, and had advanced solid cancers of any histological type with sufficient and accessible tissue for CGP. At T0 (before receiving CGP results), 1,431 participants completed sociodemographic, disease …

Cross Species Use Of Human Microarray Genotyping Technology For Bornean Orangutan (Pongo Pygmaeus) Snp Discovery, Ruth Ella Linsky, R. Steven Wagner, Reniastoetie Djojoasmoro, Joseph G. Lorenz, Biruté M. F. Galdikas

Student Published Works

Previous genetic studies of orangutans (Pongo spp.) have relied mainly upon mitochondrial DNA or microsatellite short tandem repeats (STR) for genomic genotyping analysis. Scientists have yet to take advantage of the genetic closeness of the great apes to humans for genomic analysis by using advanced techniques available for human genotyping. To genotype orangutans at Tanjung Puting National Park, we developed a novel combination of a methyl-based magnetic enrichment capture of genomic fecal DNA with genotyping on a human targeted single nucleotide polymorphism (SNP) microarray, and compared this to additional microsatellite (STR) micro-capillary genotyping. We successfully isolated 125 known human genomic …

A Novel Expression: Spider Silk Synthesized For Mechanical Improvements With Kevlar, Koryn Russell

Honors Theses - Providence Campus

This study examines spider silk proteins on the molecular level for the potential use of the components for a new mechanism. DNA on the molecular level is a fairly new innovation that has led to many researchers' abilities to synthesize and construct organic and inorganic materials. The resolution of design in synthetic material is used to create organic structures that allow for stronger use. A systematic review of previously collected protein in spider silk MaSp is analyzed and studied to assemble the necessary protein sequence for further synthesis. Key words such as amino acids, molecular analysis, and protein synthesis found …

Generating A Novel Fly Line To Quantify Cellular Oxidative Stress On Developing Drosophila Melanogaster, Hanna Washburn

Summer Research

The redox condition of the cell, the ratio of reactive oxygen species to reducing agents present, can indicate the likelihood of oncogenesis. There are several genetic pathways present, such as the Nrf2 pathway in humans, which moderate the level of reactive oxygen species (ROS) within the cell. The Nrf2 pathway is an orthologue to the cncC pathway in Drosophila melanogaster, making Drosophila an ideal model organism to study redox pathways in the cell. Previous work has shown that cncC alterations can alter oncogene levels in Drosophila, however it hasn’t been shown that this manipulation truly alters ROS levels within the …