Genetics and Genomics Commons^™

Clinical Performance Of The Xpert® Ct/Ng Test For Detection Of Chlamydia Trachomatis And Neisseria Gonorrhoeae: A Multicenter Evaluation In Chinese Urban Hospitals, Fred C. Tenover, Yan Han, Mei-Qin Shi, Qing-Ping Jiang, Wen-Jing Le, Xiao-Lin Qin, Han-Zhen Xiong, He-Ping Zheng, Yi-Wei Tang, Yue-Ping Yin

Biology Faculty Publications

Background: We aimed to evaluate the clinical performance of the GeneXpert® (Xpert) CT/NG assay for the detection of Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (NG) using urine and cervical swabs collected from patients in China.

Methods: This study was conducted from September 2016 to September 2018 in three Chinese urban hospitals. The results from the Xpert CT/NG test were compared to those from the Roche cobas® 4800 CT/NG test. Discordant results were confirmed by DNA sequence analysis.

Results: In this study, 619 first void urine (FVU) specimens and 1,042 cervical swab specimens were included in the final dataset. There were …

Design Of A Synthetic Temperature-Activated Epigenetic Biocontainment System, Owen Rivers Page

Theses and Dissertations

The need for an internal control to govern engineered strain survival is becoming apparent when considering the biosafety and ethics within biotechnological research. Using understudied regulatory elements known as RNA thermometers (RNATs) that can modulate protein translation based on temperature changes and a Type II restriction modification system, we posit the creation of a synthetic temperature-activated epigenetic biocontainment system, termed the ‘sentinel switch’. We have mined a wide variety of bacteria from Yersinia pestis to Synechocystis sp. looking for novel RNATs. A complementary synthetic biology approach based on library generation and screening of chimeric RNATs (ChRNATs) was also conducted. RNATs …

The Drosophila Mutagen-Sensitivity Gene Mus109 Encodes Dmdna2, Chandani Mitchell, Vada Becker, Jordan Deloach, Erica Nestore, Elyse Bolterstein, Kathryn P. Kohl

Biology Faculty Publications

The development of gene mapping techniques has a long and storied history in the Drosophila melanogaster model system (reviewed in [1]), beginning with Alfred Sturtevant’s fundamental publication of the first genetic map in 1913 [2]. In this work, Sturtevant showed that genes are arranged in a linear order along chromosomes and that the recombination frequency between two genes could be used as a measure of the distance between them. This discovery created the foundation for other key advances in Drosophila gene mapping, including the generation of detailed polytene chromosome cytogenetic maps [3,4], the development of deletion kits covering the genome …

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 …

Cbp60-Db: An Alphafold-Predicted Plant Kingdom-Wide Database Of The Calmodulin-Binding Protein 60 (Cbp60) Protein Family With A Novel Structural Clustering Algorithm, Keaun Amani, Vanessa Shivnauth, Christian Castroverde

Biology Faculty Publications

Molecular genetic analyses in the model species Arabidopsis thaliana have demonstrated the major roles of different CAM-BINDING PROTEIN 60 (CBP60) proteins in growth, stress signaling, and immune responses. Prominently, CBP60g and SARD1 are paralogous CBP60 transcription factors that regulate numerous components of the immune system, such as cell surface and intracellular immune receptors, MAP kinases, WRKY transcription factors, and biosynthetic enzymes for immunity-activating metabolites salicylic acid (SA) and N-hydroxypipecolic acid (NHP). However, their function, regulation and diversification in most species remain unclear. Here we have created CBP60-DB, a structural and bioinformatic database that comprehensively characterized 1052 CBP60 gene homologs …

Characterization Of Cofilin And Its Potential Role In The Epha4 Pathway, Brian Donald Condron

Master's Theses and Doctoral Dissertations

EphA4 is a receptor tyrosine kinase that is responsible for cellular adhesion and locomotion using repulsion signaling in early development of Xenopus laevis. EphA4 regulates cellular locomotion by controlling proteins within its signal transduction pathway, which may include the protein cofilin. Cofilin actively severs and removes actin monomers, thus altering the actin cytoskeleton, leading to the cessation of cellular crawl. During the gastrulation phase of embryonic development, individual cells are relocating to create the three primary germ layers of the organism. Failure of this process to occur results in attrition of the embryos, frequently by way of embryonic exogastrulation. …

Investigating Replacement Of A Yeast Gene With A Human Gene As A Rare Disease Model System, Emma Pastoor, Amy Wilstermann, Rachael Baker

Summer Research

• BCS1L is a mitochondrial protein that assists in building complex III of the electron transport chain which allows for cellular respiration to occur
• Different mutations in BCS1L can result in three rare genetic diseases: Bjornstad Syndrome, BCS1L Mitopathy, or GRACILE Syndrome

Altered Gene Expression In Response To Chronic Cardiac Sarcomere Modifications, Oula Salih, Emily Lavey, Margaret Westfall

Summer Research

No abstract provided.

Development And Preliminary Testing Of A Walkassist Device With Dynamic Support, Simon Detmer, Gita Regmi, Kaitlyn Boellner, Ann Reinthal, Hanz Richter

Summer Research

In the past decade, usage of walking aids in the senior population has increased by 50 percent and is expected to double by 20501 . Walkers are used as a temporary aid to encourage mobility after surgery or fracture, but they often become permanent aids2 . In the United States, about 12 percent of the elderly population use walkers1. Walkers are prescribed to reduce the load on lower limbs and/or to improve balance and stability. However, longer usage of walkers leads to low physical function and low self-confidence. Walker users typically have forward leaning posture due to load transfer from …

Comparative Evaluation Of Assemblers For Metagenomic Data Analysis, Matheus Pavini Franco Ferreira

Honors Undergraduate Theses

Metagenomics is a cultivation-independent approach for obtaining the genomic composition of microbial communities. Microbial communities are ubiquitous in nature. Microbes which are associated with the human body play important roles in human health and disease. These roles span from protecting us against infections from other bacteria, to being the causes of these diseases. A deeper understanding of these communities and how they function inside our bodies allows for advancements in treatments and preventions for these diseases. Recent developments in metagenomics have been driven by the emergence of Next-Generation Sequencing technologies and Third-Generation Sequencing technologies that have enabled cost-effective DNA sequencing …

Whole Exome Sequencing Identifies A Novel Mutation In Aspm And Ultra-Rare Mutation In Cdk5rap2 Causing Primary Microcephaly In Consanguineous Pakistani Families, Ehtisham Ul Haq Makhdoom, Haseeb Anwar, Shahid Mahmood Baig, Ghulam Hussain

Department of Biological & Biomedical Sciences

Background & objectives: Primary Microcephaly (MCPH) is a rare neurogenetic disease, manifesting congenitally reduced head circumference and non-progressive intellectual disability (ID). To date, twenty-eight genes with biallelic mutations have been reported for this disorder. The study aimed for molecular genetic characterization of Pakistani families segregating MCPH.
Methods: We studied two unrelated consanguineous families (family A and B) presenting >2 patients with diagnostic symptoms of MCPH, born to asymptomatic parents. We employed whole-exome sequencing (WES) of probands to find putative causal mutations. The candidate variants were further confirmed and analyzed for co-segregation by Sanger sequencing of all available members of each …

Pulmonary Function And Blood Dna Methylation: A Multiancestry Epigenome-Wide Association Meta-Analysis, Mikyeong Lee, Tianxiao Huan, Daniel L. Mccartney, Geetha Chittoor, Maaike De Vries, Lies Lahousse, Jennifer N. Nguyen, Jennifer A. Brody, Juan Castillo-Fernandez, Natalie Terzikhan, Cancan Qi, Roby Joehanes, Josine L. Min, Gordon J. Smilnak, Jessica R. Shaw, Chen Xi Yang, Elena Colicino, Thanh T. Hoang, Mairead L. Bermingham, Hanfei Xu, Anne E. Justice, Cheng-Jian Xu, Stephen S. Rich, Simon R. Cox, Judith M. Vonk, Ivana Prokić, Nona Sotoodehnia, Pei-Chien Tsai, Joel D. Schwartz, Janice M. Leung, Sinjini Sikdar, Rosie M. Walker, Sarah E. Harris, Diana A. Van Der Plaat, David J. Van Den Berg, Traci M. Bartz, Tim D. Spector, Pantel S. Vokonas, Riccardo E. Marioni, Adele M. Taylor, Yongmei Liu, R. Graham Barr, Leslie A. Lange, Andrea A. Baccarelli, Ma'en Obeidat, Myriam Fornage, Tianyuan Wang, James M. Ward, Alison A. Motsinger-Reif, Gibran Hemani, Gerard H. Koppelman, Jordana T. Bell, Sina A. Gharib, Guy Brusselle, H. Marike Boezen, Kari E. North, Daniel Levy, Kathryn L. Evans, Josée Dupris, Charles E. Breeze, Ani Manichaikul, Stephanie J. London

Mathematics & Statistics Faculty Publications

Rationale: Methylation integrates factors present at birth and modifiable across the lifespan that can influence pulmonary function. Studies are limited in scope and replication.

Objectives: To conduct large-scale epigenome-wide meta-analyses of blood DNA methylation and pulmonary function.

Methods: Twelve cohorts analyzed associations of methylation at cytosine-phosphate-guanine probes (CpGs), using Illumina 450K or EPIC/850K arrays, with FEV₁, FVC, and FEV₁/FVC. We performed multiancestry epigenome-wide meta-analyses (total of 17,503 individuals; 14,761 European, 2,549 African, and 193 Hispanic/Latino ancestries) and interpreted results using integrative epigenomics.

Measurements and Main Results: We identified 1,267 CpGs (1,042 genes) differentially methylated (false discovery …

Identification Of A Novel Protein Interaction That Elucidates The Mechanism Of Idiopathic Recurrent Miscarriages In Women With Nlrp2 Mutations, Nayeon Son

Graduate Theses/Dissertations

The protein NOD-Like receptor pyrin domain containing 2 (NLRP2) is one member of a larger family of protein receptors that plays an important role in our innate immune system. In humans, the NLR family consists of 22 proteins. However, only about a half of NLRs’ functions are known, but many are pro-inflammatory, causing inflammation. NLRP2 has been identified to be a maternal effect gene regulating early embryo development in idiopathic recurrent miscarriages. In previous studies, mutations in the NLRP2 gene resulted in genetic maternal imprinting disorders due to NLRP2 regulating DNA methylation. However, the exact mechanisms involved in recurrent miscarriages …

Molecular Genetic Investigation Of Twins, Families, And Populations, Jeffrey John Beck

Dissertations and Theses

Twins have long been of interest for illuminating genetic and environmental influences on human traits and diseases. These explorations have been accelerated by the substantial amount of information collected from twins and their families participating in twin registers around the world. In this dissertation, I review what is known and what remains unknown about the biology and genetics of twins and the underlying twinning process. To elucidate additional genetic factors of the twinning process, I employed pedigree-based analysis to identify genetic regions shared among distantly related mothers of dizygotic twins. The shared regions may potentially contain rare genetic variants with …

Single Cell Lineage Tracing Reveals Mechanisms Of Tumor Initiation And Chemoresistance In Small Cell Lung Cancer, Hannah Wollenzien

Dissertations and Theses

Small Cell Lung Cancer (SCLC) is a devastating disease characterized by a very low two-year survival rate and almost universal acquisition of chemoresistance. Nearly all patients have tumors driven by functional inactivation of the tumor suppressors Rb and p53, but despite the uniform origins of this tumor, not all patients are genetically or phenotypically identical. SCLC can be subtyped into four unique molecular subtypes, determined by the expression of ASCL1, NEUROD1, POU2F3, or YAP1. These subtypes are plastic, and subtype switching after chemotherapy has been documented. Without the understanding of how tumor heterogeneity arises, we cannot solve the challenge of …

Computational Methods To Analyze Next-Generation Sequencing Data In Genomics And Metagenomics, Saidi Wang

Electronic Theses and Dissertations, 2020-2023

This thesis focuses on two important computational problems in genomics and metagenomics with the public available next-generation sequencing data. One is about gene regulation, for which we explore how distal regulatory elements may interact with the proximal regulatory elements. The other is about metagenomics, in which we study how to reconstruct bacterial strain genomes from shotgun reads. Studying gene regulation, especially distal gene regulation, is important because regulatory elements, including those in distal regulatory regions, orchestrate when, where and how much a gene is activated under every experimental condition. Their dysfunction results in various types of diseases. Moreover, the current …

Use Of Heterothallic Mat Deletion Strains Of Fusarium Graminearum As Test Mates In Crosses To Evaluate The Genetics Of Pathogenicity And Fitness, Gabdiel Emmanuel Yulfo-Soto

Theses and Dissertations--Plant Pathology

Fusarium Head Blight (FHB), caused by Fusarium graminearum sensu stricto and other members of the F. graminearum species complex (FGSC), is a plant disease that occurs on cereal crops worldwide. FHB causes yield losses not only by reducing grain weight, but also by contaminating the kernels with dangerous trichothecene mycotoxins, especially deoxynivalenol (DON). There is a high degree of genotypic and phenotypic variation among pathogen species and strains, but current FHB risk assessment models and treatments do not account for pathogen diversity. Therefore, it is difficult to predict what will happen if a new, potentially more aggressive variant is introduced, …

Effects Of Sunrise/Sunset Lighting On Corticosterone Levels In Coturnix Quail (Coturnix Coturnix), Hannah M. Feuerborn, Sara K. Orlowski

Discovery, The Student Journal of Dale Bumpers College of Agricultural, Food and Life Sciences

Both genetics and environment play important roles in the growth, performance, and overall welfare of poultry species. Current commercial production practices typically do not mimic the natural environmental conditions of ancestral poultry species, specifically lighting. The current study aimed to evaluate the impact of genetics and the effect of sunrise/sunset lighting on the stress response of 4 genetic lines of Coturnix quail. The 4 lines utilized in this study included high stress (H), low stress (L), stress control (R), and Arkansas randombred (A) quail lines. Day old chicks from these lines were placed in one of two environmentally controlled rooms. …

Alternatively Spliced Csf3r In Human Health And Disease, Borwyn A. Wang

Theses and Dissertations

Elevated alternative colony stimulating factor 3 receptor (CSF3R) isoforms are observed in myelodysplastic syndromes (MDS) and other myeloid neoplasms, but their role in driving disease progression has not been fully explained. In this study we report on the role of an MDS-associated splicing factor SRSF2 and its effects on the production of Class III and Class IV CSF3R isoforms and granulopoiesis. Class IV add-back in Csf3r-null mice showed impaired neutrophil differentiation with increased number of CFU-G, which largely consisted of metamyelocytes, while Class III showed greater dysgranulopoiesis accompanied by dysmorphic neutrophils. Alternative CSF3R isoforms were elevated in …

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

[Archive] Belmont University Research Symposium (BURS)

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 provide the export of more mRNA. This release occurs through the action of Dbp5, whose activity is regulated …

Identifying Adaptor Proteins For Selective Mrna Export In S. Cerevisiae, Chloe Baker, Rebecca Adams

Science University Research Symposium (SURS)

The export of mature mRNA from the nucleus of the cell to the cytoplasm is crucial for a cell’s survival, as this process is necessary to produce proteins encoded by these transcripts. In S. cerevisiae (yeast) cells, a protein known as Mex67 must bind to the mRNA while it’s in the nucleus so it can cross through the nuclear pore complex (NPC). Mex67 cannot bind to the mRNA directly, instead it needs to be accompanied by adaptor proteins to aid it in getting across the NPC. Stress conditions such as heat shock interferes with the function of these adaptor …

Adenoviral-Vectored Centralized Consensus Hemagglutinin Vaccine Provides Broad Protection Against H2 Influenza A Virus, Erika M. Petro-Turnquist, Brianna L. Bullard, Matthew J. Pekarek, Eric A. Weaver

Nebraska Center for Virology: Faculty Publications

Several influenza pandemics have occurred in the past century, one of which emerged in 1957 from a zoonotic transmission of H2N2 from an avian reservoir into humans. This pandemic caused 2–4 million deaths and circulated until 1968. Since the disappearance of H2N2 from human populations, there has been waning immunity against H2, and this subtype is not currently incorporated into seasonal vaccines. However, H2 influenza remains a pandemic threat due to consistent circulation in avian reservoirs. Here, we describe a method of pandemic preparedness by creating an adenoviral-vectored centralized consensus vaccine design against human H2 influenza. We also assessed the …

The Application Of The Skin Virome For Human Identification, Ema H. Graham, Jennifer Clarke, Samodha Fernando, Joshua Herr, Michael Adamowicz

Nebraska Center for Virology: Faculty Publications

The use of skin virome offers a unique approach for human identification purposes in instances where a viable and statistically relevant human DNA profile is unavailable. The skin virome may act as an alternative DNA profile and/or an additional form of probative genetic material. To date, no study has attempted to investigate the human virome over a time series across various physical locations of the body to identify its diagnostic potential as a tool for human identification. For this study, we set out to evaluate the stability, diversity, and individualization of the human skin virome. An additional goal was to …

Model Definition For Genetic Evaluation Of Purebred And Crossbred Lambs Including Heterosis, Napoleón Vargas Jurado, David R. Notter, Joshua B. Taylor, Daniel J. Brown, Michelle R. Mousel, Ronald M. Lewis

Department of Animal Science: Faculty Publications

Crossbreeding is a common practice among commercial sheep producers to improve animal performance. However, genetic evaluation of U.S. sheep is performed within breed type (terminal sire, semi-prolific, and western range). While incorporating crossbred records may improve assessment of purebreds, it requires accounting for heterotic and breed effects in the evaluation. The objectives of this study were to: 1) describe the development of a paternal composite (PC) line, 2) determine the effect of direct and maternal heterosis on growth traits of crossbred lambs, 3) estimate (co)variance components for direct and maternal additive, and uncorrelated maternal environmental, effects, and 4) provide an …

Interaction Of Urea With Frequency And Amount Of Distillers Grains Supplementation For Growing Steers On A High Forage Diet, Haley F. Linder, Josh E. Sebade, Zac E. Carlson, Hannah C. Wilson, Tyler J. Spore, Mary E. Drewnoski, Jim C. Macdonald

Department of Animal Science: Faculty Publications

Two studies were conducted to determine interactions of urea inclusion to a dried distillers grains plus solubles (DDGS; 29.4% crude protein, 5.48% ether extract) supplement fed at two amounts and two frequencies to steers on a high forage diet. In Exp. 1, 120 (247 kg; SD = 20) steers were fed individually for 84 d. Steers received ad libitum grass hay (6.8% crude protein) and one of eight treatments. Treatment design was a 2 × 2 × 2 factorial. Supplement was fed daily or three times per week, amount of supplement fed was 6.36 kg dry matter (DM)/week [0.37% body …

Production Cow-Calf Responses From Perennial Forage-Based And Integrated Beef-Cropping Systems, Zac E. Carlson, Levi Mcphillips, Galen E. Erickson, Mary E. Drewnoski, Jim C. Macdonald

Department of Animal Science: Faculty Publications

An experiment was conducted to measure production responses of an alternative cow-calf production system integrated into a cropping system without access to perennial forage compared to a traditional cow-calf system utilizing perennial forage. Multiparous, cross-bred beef cows (n = 160; average age = 6.2 ± 2.8 yr) were utilized in a randomized complete block experimental design and unstructured treatment design. Upon initiation, cows were blocked by age and stratified by source, assigned randomly to one of two production systems, each with four replicates (n = 20 cows/replicate). Once allotted to their treatment groups, cows remained in their experimental units for …

Evaluation Of A Novel Computer Vision-Based Livestock Monitoring System To Identify And Track Specific Behaviors Of Individual Nursery Pigs Within A Group-Housed Environment, Ty B. Schmidt, Jessica M. Lancaster, Eric T. Psota, Benny E. Mote, Lindsey E. Hulbert, Aaron Holliday, Ruth Woiwode, Lance Perez

Department of Animal Science: Faculty Publications

Animal behavior is indicative of health status and changes in behavior can indicate health issues (i.e., illness, stress, or injury). Currently, human observation (HO) is the only method for detecting behavior changes that may indicate problems in group-housed pigs. While HO is effective, limitations exist. Limitations include HO being time consuming, HO obfuscates natural behaviors, and it is not possible to maintain continuous HO. To address these limitations, a computer vision platform (NUtrack) was developed to identify (ID) and continuously monitor specific behaviors of group-housed pigs on an individual basis. The objectives of this study were to evaluate the capabilities …

Assessing Population Structure And Genetic Diversity In Us Suffolk Sheep To Define A Framework For Genomic Selection, Carrie S. Wilson, Jessica L. Petersen, Harvey D. Blackburn, Ronald M. Lewis

Department of Animal Science: Faculty Publications

Long-term sustainability of breeds depends on having sufficient genetic diversity for adaptability to change, whether driven by climatic conditions or by priorities in breeding programs. Genetic diversity in Suffolk sheep in the United States was evaluated in four ways: 1) using genetic relationships from pedigree data [(n = 64 310 animals recorded in the US National Sheep Improvement Program (NSIP)]; 2) using molecular data (n = 304 Suffolk genotyped with the OvineHD BeadChip); 3) comparing Australian (n = 109) and Irish (n = 55) Suffolk sheep to those in the United States using molecular data; and 4) assessing genetic relationships …

Site Of Infusion Of A Commercially Available Direct-Fed Microbial On Performance And Digestibility In Lactating Holstein Cows, K. S. Thompson, A. G. Mckeith, C. R. Krehbiel

Department of Animal Science: Faculty Publications

Objective: The objective of this research was to evaluate site of infusion of a commercially available direct-fed microbial (DFM) containing 10⁹ cfu/g of Lactobacillus acidophilus and 10⁹ cfu/g Propionibacterium freudenreichii on DMI, rumen kinetics, ruminal VFA, digestibility, milk production, milk components, and blood metabolites in lactating dairy cows.

Materials and Methods: Four Holstein cows equipped with ruminal cannulas were used in a Latin square design experiment with 4 periods. Each 37-d period consisted of 14 d of no treatment to prevent crossover contamination, 14 d of adaptation to treatments, 8 d of sampling, and 1 d for …

The Effect Of Anti-Aging Treatment On Expression Of Aging Markers In A Mouse Model Of Huntington Disease, Mary Isabelle E. Guerra

Honors Undergraduate Theses

Huntington disease (HD) is a fatal neurodegenerative disease caused by CAG tract expansion in the huntingtin (HTT) gene, which results in production of mutant huntingtin (mtHTT) protein. Although mtHTT is expressed throughout life, onset of HD symptoms typically begins in mid-life, around 35 to 50 years of age. Characteristic HD symptoms include motor, cognitive, and psychiatric abnormalities. The emergence of symptoms in adulthood suggests that aging may play a role in HD pathogenesis. Furthermore, markers of accelerated aging can be observed in HD patients, including telomere attrition, epigenetic alterations, and mitochondrial dysfunction. Our lab has previously observed that …