Evolutionary Conservation Of Midline Repulsion By Robo Family Receptors In Flies And Mice,
2018
University of Arkansas, Fayetteville
Evolutionary Conservation Of Midline Repulsion By Robo Family Receptors In Flies And Mice, Allison Loy
Biological Sciences Undergraduate Honors Theses
As the nervous system develops in animal embryos, neuronal axons are guided to their synaptic targets by extra cellular cues that signal through axon guidance receptors expressed on the surface of the axon. In animals with bilateral symmetry, one of the important decisions made by nearly every axon in the embryonic nervous system is whether to stay on its own side of the body, or to cross the midline and connect to cells on the opposite side. The Roundabout (Robo) family is an evolutionarily conserved group of axon guidance receptors that regulate midline crossing in a wide range of animal …
The Ush2a Gene: An Analysis Of Ultrasonic Vocalizations In A Mouse Model Of Usher Syndrome Type 2,
2018
University of Connecticut
The Ush2a Gene: An Analysis Of Ultrasonic Vocalizations In A Mouse Model Of Usher Syndrome Type 2, Kiana R. Akhundzadeh
Honors Scholar Theses
Usher syndrome type 2 is a complex autosomal recessive genetic disorder that is characterized by moderate to severe congenital sensorineural hearing loss, the onset of retinitis pigmentosa in the second decade of life, and in some cases, vestibular dysfunction. Mutations in the USH2A gene account for 85% of cases of type 2. The USH2A gene is responsible for encoding the protein usherin, which has an important role in the development and function of inner ear hair cells and retinal photoreceptors. Until recently, it has been believed that carriers of the USH2A mutation were phenotype free. However, recent data has suggested …
Sequencing And Analysis Of Centromere Protein B In Wallaby And The Rapid Evolution Of The Centromere,
2018
University of Connecticut
Sequencing And Analysis Of Centromere Protein B In Wallaby And The Rapid Evolution Of The Centromere, Alexander Tedeschi
Honors Scholar Theses
Using a combination of Sanger sequencing and RNA-seq data, this project aims to determine the nucleotide and amino acid sequence of Centromere Protein B (CENP-B), an important protein involved in the assembly of the kinetochore protein complex at the centromere, in several species of marsupials, specifically wallabies. Despite their recent evolutionary history, these species have been shown to have surprisingly divergent centromeric DNA sequences. Through comparative analysis of these sequences, this project, along with analysis of several other CENPs, aims to determine if this divergence extends to the proteins closely associated with these sequences and possibly even further into the …
Identifying New Genes Involved In Centromere Establishment,
2018
University of Connecticut
Identifying New Genes Involved In Centromere Establishment, Megan Boyer
Honors Scholar Theses
The centromere is a site on the chromosome that mediates accurate cell division by serving as a platform for kinetochore assembly, and microtubule attachment during cell division. Errors in the process of chromosome segregation can contribute to genetic irregularities, such as those seen in cancer and congenital defects. Our lab uses the ectopic centromere as a tool to discover what proteins may be involved in centromere establishment, defined as the deposition of CENP-A at the locus. We use the lacO/LacI system within Drosophila S2 cells that contain a CAL1-GFP- LacI transgene and an integrated lacO array to study the ectopic …
Attitudes To Ward Updated Genetic Testing Among Patients With Unexplained Mismatch Repair Deficiency,
2018
The University of Texas M D Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences
Attitudes To Ward Updated Genetic Testing Among Patients With Unexplained Mismatch Repair Deficiency, Jessica Omark
Dissertations and Theses (Open Access)
Individuals who have colorectal cancer (CRC) or endometrial cancer (EC) displaying loss of immunohistochemical (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair deficiency (UMMRD, also known as mutation-negative Lynch syndrome). Comprehensive genetic testing that could potentially further clarify Lynch syndrome (LS) carrier status is essential to provide tailored screening guidelines to affected individuals and their family members; however, patient understanding of the potential impact of updated genetic testing for LS is unclear. This study aimed to evaluate the interest in and perceived impact of updated genetic …
Examining The Relationship Between Genetic Counselors’ Implicit Attitudes To Ward Disability And Their Practice Methods,
2018
The University of Texas M D Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences
Examining The Relationship Between Genetic Counselors’ Implicit Attitudes To Ward Disability And Their Practice Methods, Helen W. Gould
Dissertations and Theses (Open Access)
Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child. This role requires genetic counselors to be responsible and compassionate when approaching conversations about disability. With a lack of research on how the specific attitudes of genetic counselors toward disability impact clinical practice, we aimed to understand these attitudes, what factors affect implicit attitudes toward disability, and how these attitudes affect counseling. Case scenarios involving disability were used to examine different counseling content preferences within a genetic …
Genetic Testing Practices Of Genetic Counselors, Geneticists, And Pediatric Neurologists With Regard To Childhood-Onset Neurogenetic Conditions,
2018
The University of Texas M D Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences
Genetic Testing Practices Of Genetic Counselors, Geneticists, And Pediatric Neurologists With Regard To Childhood-Onset Neurogenetic Conditions, Sara Wofford
Dissertations and Theses (Open Access)
Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. The study noted significant variance between the testing strategies selected by pediatric neurologists compared to those of geneticists …
Outcomes Of Genetic Testing In A Genitourinary Genetics Clinic,
2018
The University of Texas M D Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences
Outcomes Of Genetic Testing In A Genitourinary Genetics Clinic, Annelise Pace
Dissertations and Theses (Open Access)
Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited research on the clinical picture of these patients, including their cancerous and non-cancerous features, the genetic testing strategy for this population, and the probability of having a positive germline mutation if testing is performed. The purpose of this study is to determine the most common indications for ordering genetic testing in a GU Genetics Clinic and evaluate whether there is a relationship between the indication for genetic testing …
Regulation Of The Tubulin Homolog Ftsz In Escherichia Coli,
2018
CUNY Graduate Center
Regulation Of The Tubulin Homolog Ftsz In Escherichia Coli, Monika S. Buczek
Dissertations, Theses, and Capstone Projects
Escherichia coli is a well-known pathogen, and importantly, a widely used model organism in all fields of biological sciences for cloning, protein purification, and as a model for Gram-negative bacterial species. And yet, researchers do not fully understand how this bacterium replicates and divides. Every year additional division proteins are discovered, which adds complexity to how we understand E. coli undergoes cell division. Due to their specific roles in cytokinesis, some of these proteins may be potential targets for development of antibacterials or bacteriostatics, which are much needed for fighting the current global antibacterial deficit. My thesis work focuses on …
Genotype-Specific Insertion Of Cytotoxic Genetic Elements Into Cancer Cells,
2018
University of Connecticut
Genotype-Specific Insertion Of Cytotoxic Genetic Elements Into Cancer Cells, Ryan Englander
University Scholar Projects
The new gene editing system CRISPR/Cas9, composed of a complex composed of a guide RNA and the Cas9 endonuclease, promises to revolutionize biological research and potentially allow clinicians to directly modify patient DNA in vivo. While its applications in the treatment of genetic diseases and in modifying immune cells for immunotherapy are currently being explored, CRISPR/Cas9’s potential utility as a modular system for targeting tumor-specific mutated sequences has not as of yet been explored. While CRISPR/Cas9 is specific enough to target small insertions and deletions or gross chromosomal rearrangements, it is not specific enough to reliably restrict editing to …
Efficient Reduced Bias Genetic Algorithm For Generic Community Detection Objectives,
2018
University of Missouri, St. Louis
Efficient Reduced Bias Genetic Algorithm For Generic Community Detection Objectives, Aditya Karnam Gururaj Rao
Theses
The problem of community structure identification has been an extensively investigated area for biology, physics, social sciences, and computer science in recent years for studying the properties of networks representing complex relationships. Most traditional methods, such as K-means and hierarchical clustering, are based on the assumption that communities have spherical configurations. Lately, Genetic Algorithms (GA) are being utilized for efficient community detection without imposing sphericity. GAs are machine learning methods which mimic natural selection and scale with the complexity of the network. However, traditional GA approaches employ a representation method that dramatically increases the solution space to be searched by …
Restoration Of Phage Growth On A Non-Permissive Host By Bypassing Transcription Termination Signals,
2018
Western Kentucky University
Restoration Of Phage Growth On A Non-Permissive Host By Bypassing Transcription Termination Signals, Millicent Ronkainen
Mahurin Honors College Capstone Experience/Thesis Projects
RNA polymerase is the central enzyme in all gene expression. The rpoCY75N mutation in the zinc-binding domain of the β’ subunit of E. coli RNA polymerase blocks a unique RNA-based mechanism of transcription antitermination utilized by bacteriophage HK022 and its relatives. Here, we describe the characterization of mutant phage, orc0368, which overcomes the rpoCY75N mutation. The orc0368 genome varies from the wild type phage genome by 4 single base pair mutations. Three of these mutations were not characterized because they occur in intergenic regions but the fourth was chosen for study because of its location between a series …
The Association Of Polymorphism Rs3736228 Within The Lrp5 Gene With Bone Mineral Density In A Cohort Of Caucasian Young Adults,
2018
George Washington University
The Association Of Polymorphism Rs3736228 Within The Lrp5 Gene With Bone Mineral Density In A Cohort Of Caucasian Young Adults, Mohamed J. H. Al-Amoodi, Whitney Jones, Danny Lee, Steven Mckenzie, Helen C. Miller, Zach Zeller, Seth Stubblefield, Susan Knoblach, Heather Gordish-Dressman, Dustin Hittel, Laura L. Tosi
GW Research Days 2016 - 2020
INTRODUCTION: Osteoporosis is a significant burden for our aging population. Developing a better understanding of the genetic underpinnings of poor bone quality may assist in the future development of prevention strategies. Correa-Rodriguez et al. have identified a group of single nucleotide polymorphisms (SNPs) that were associated with bone mineral density (BMD) in a population of Spanish Caucasians. In particular, they found that SNP rs3736228 in the low-density lipoprotein receptor related protein 5 (LRP5) gene had an influence on BMD. While the role of LRP5 in the Wnt canonical pathway has been fairly well characterized, its association with phenotypic BMD and …
Genetic Interactions Between Bob1 And Multiple 26s Proteasome Subunits Suggest A Role For Proteostasis In Regulating Arabidopsis Development,
2018
Swarthmore College
Genetic Interactions Between Bob1 And Multiple 26s Proteasome Subunits Suggest A Role For Proteostasis In Regulating Arabidopsis Development, Elan W. Silverblatt-Buser , '12, Melissa A. Frick , '12, Christina Rabeler, Nicholas J. Kaplinsky
Biology Faculty Works
Protein folding and degradation are both required for protein quality control, an essential cellular activity that underlies normal growth and development. We investigated how BOB1, an Arabidopsis thaliana small heat shock protein, maintains normal plant development. bob1 mutants exhibit organ polarity defects and have expanded domains of KNOX gene expression. Some of these phenotypes are ecotype specific suggesting that other genes function to modify them. Using a genetic approach we identified an interaction between BOB1 and FIL, a gene required for abaxial organ identity. We also performed an EMS enhancer screen using the bob1-3 allele to identify pathways that are …
Cross Talk Between Serum Kisspeptin-Leptin During Assisted Reproduction Techniques,
2018
Aga Khan University
Cross Talk Between Serum Kisspeptin-Leptin During Assisted Reproduction Techniques, Rehana Rehman, Zehra Jamil, Aqsa Khalid, Syeda Sadia Fatima
Department of Biological & Biomedical Sciences
Background & Objective: Leptin facilitates onset of puberty by impact on hypothalamic Kisspeptin, gonadotropin releasing hormone, follicle stimulating and luteinizing hormone. The link of peripheral Leptin-Kisspeptin in regulating the ovarian and endometrial tissue in relation to adiposity is unknown. Therefore, we wanted to identify Kisspeptin-Leptin association with body mass index (BMI) and success of assisted reproductive treatments (ART) in infertile females.
Methods: A cross sectional study was carried from August 2014 till May 2016 after receiving ethical approval at Australian Concept Infertility Medical Centre, and Aga Khan University. The study group comprised of females with an age range …
Characterization Of A Morphogenetic Furrow Specific Gal4 Driver In The Developing Drosophila Eye,
2018
University of Dayton
Characterization Of A Morphogenetic Furrow Specific Gal4 Driver In The Developing Drosophila Eye, Ankita Sarkar, Neha Gogia, Kevin Farley, Lydia C. Payton, Amit Singh
Biology Faculty Publications
The ability to express a gene of interest in a spatio-temporal manner using Gal4-UAS system has allowed the use of Drosophila model to study various biological phenomenon. During Drosophila eye development, a synchronous wave of differentiation called Morphogenetic furrow (MF) initiates at the posterior margin resulting in differentiation of retinal neurons. This synchronous differentiation is also observed in the differentiating retina of vertebrates. Since MF is highly dynamic, it can serve as an excellent model to study patterning and differentiation. However, there are not any Gal4 drivers available to observe the gain- of- function or loss- of- function of a …
Genetic Basis Of Larval Crystal Cell Quantity Variation In The Drosophila Genetic Reference Panel (Dgrp),
2018
Bernard M Baruch College & CUNYBA Program
Genetic Basis Of Larval Crystal Cell Quantity Variation In The Drosophila Genetic Reference Panel (Dgrp), Brian Tang
Student Theses and Dissertations
Crystal cells are one of three requisite hemocytes that take part in fighting infection and wound healing in Drosophila melanogaster (common fruit flies). The developmental genetics of crystal cell formation is only beginning to be discovered. To address this question, we performed a Genome-Wide Association Study (GWAS) on larval crystal cell number from 78 isolines of the Drosophila Genetic Reference Panel (DGRP) collection. The DGRP consists of naturally caught fruit flies that are inbred to near homozygosity with completely sequenced genomes. By placing the wandering third instar larvae under heatshock, a process that induces the melanization of crystal cells, …
Differential Gene Expression In Response To Hypoxia And Acidosis In Chest Wall Deformities And Chondrosarcoma,
2018
Old Dominion University
Differential Gene Expression In Response To Hypoxia And Acidosis In Chest Wall Deformities And Chondrosarcoma, Jamie L. Durbin
Biological Sciences Theses & Dissertations
The importance of understanding how costal cartilage chondrocytes respond to stimuli such as oxidative stress and low pH has been largely overlooked in studies involving tissue culturing due to major differences between oxygen and pH levels during incubation and the natural environment of hyaline cartilage. Hyaline cartilage is avascular and naturally hypoxic which subsequently leads to increased glycolytic metabolism and ultimately causes a decrease in extracellular pH. To examine how healthy costal cartilage responds to these extreme growth conditions, we examined responses in three hyaline cartilage diseases. Our ability to identify the disease mechanisms responsible for pectus excavatum, pectus carinatum, …
Changes In The Proliferation And Gene Expression Of Huvecs In Response To Treatment With Plant Secondary Metabolites,
2018
Pepperdine University
Changes In The Proliferation And Gene Expression Of Huvecs In Response To Treatment With Plant Secondary Metabolites, Caleigh Howard
Seaver College Research And Scholarly Achievement Symposium
Medicinal plants have historically been a valuable source of new drugs, and Southern California possesses a rich collection of native plants which have been used as medicines by native people groups for thousands of years. Angiogenesis is the biological process of new blood-vessel growth from endothelial cells. It is an essential part of the wound-healing process, and increased angiogenesis has also been implicated in the growth of some types of cancerous tumors. In this study, extracts of the Southern Californian native plants Red shanks (Adenostoma sparsifolium) and the alkaloid extract of Jimson weed (Datura wrightii) were …
Self-Oligomerization Regulates Stability Of Survival Motor Neuron Protein Isoforms By Sequestering An ScfSlmb Degron,
2018
Chapman University
Self-Oligomerization Regulates Stability Of Survival Motor Neuron Protein Isoforms By Sequestering An ScfSlmb Degron, Kelsey M. Gray, Kevin A. Kaifer, David Baillat, Ying Wen, Thomas R. Bonacci, Allison D. Ebert, Amanda C. Raimer, Ashlyn M. Spring, Sara Ten Have, Jacqueline J. Glascock, Kushol Gupta, Gregory D. Van Duyne, Michael J. Emanuele, Angus I. Lamond, Eric J. Wagner, Christian L. Lorson, A. Gregory Matera
Biology, Chemistry, and Environmental Sciences Faculty Articles and Research
Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1. Expression of a duplicate gene (SMN2) primarily results in skipping of exon 7 and production of an unstable protein isoform, SMNΔ7. Although SMN2 exon skipping is the principal contributor to SMA severity, mechanisms governing stability of survival motor neuron (SMN) isoforms are poorly understood. We used a Drosophila model system and label-free proteomics to identify the SCFSlmb ubiquitin E3 ligase complex as a novel SMN binding partner. SCFSlmb interacts with a phosphor degron embedded within the human and fruitfly SMN YG-box oligomerization domains. …
