Medical Genetics Commons^™

Validation Of Simple Sequence Length Polymorphism Regions Of Commonly Used Mouse Strains For Marker Assisted Speed Congenics Screening., Channabasavaiah B. Gurumurthy, Poonam S. Joshi, Scott G. Kurz, Masato Ohtsuka, Rolen M. Quadros, Donald W. Harms, K.C. Kent Lloyd

Journal Articles: Genetics, Cell Biology & Anatomy

Marker assisted speed congenics technique is commonly used to facilitate backcrossing of mouse strains in nearly half the time it normally takes otherwise. Traditionally, the technique is performed by analyzing PCR amplified regions of simple sequence length polymorphism (SSLP) markers between the recipient and donor strains: offspring with the highest number of markers showing the recipient genome across all chromosomes is chosen for the next generation. Although there are well-defined panels of SSLP makers established between certain pairs of mice strains, they are incomplete for most strains. The availability of well-established marker sets for speed congenic screens would enable the …

De Novo Assembly Of The Chimpanzee Transcriptome From Nextgen Mrna Sequences, Mnirnal D. Maudhoo, Jacob D. Madison, Robert B. Norgren

Journal Articles: Genetics, Cell Biology & Anatomy

BACKGROUND: Common chimpanzees (Pan troglodytes) and bonobos (Pan paniscus) are the species most closely related to humans. For this reason, it is especially important to have complete and accurate chimpanzee nucleotide and protein sequences to understand how humans evolved their unique capabilities. We provide transcriptome data from four untransformed cell types derived from the reference Pan troglodytes, "Clint", to better annotate the chimpanzee genome and provide empirical validation for proposed gene models of this important species.

FINDINGS: RNA was extracted from primary cells cultured from four tissues: skin, adipose stroma, vascular smooth muscle and skeletal muscle. These four RNA samples …

Motor-Skill Learning Is Dependent On Astrocytic Activity., Ragunathan Padmashri, Anand Suresh, Michael D. Boska, Anna Dunaevsky

Journal Articles: Munroe-Meyer Institute

Motor-skill learning induces changes in synaptic structure and function in the primary motor cortex through the involvement of a long-term potentiation- (LTP-) like mechanism. Although there is evidence that calcium-dependent release of gliotransmitters by astrocytes plays an important role in synaptic transmission and plasticity, the role of astrocytes in motor-skill learning is not known. To test the hypothesis that astrocytic activity is necessary for motor-skill learning, we perturbed astrocytic function using pharmacological and genetic approaches. We find that perturbation of astrocytes either by selectively attenuating IP3R2 mediated astrocyte Ca(2+) signaling or using an astrocyte specific metabolic inhibitor fluorocitrate (FC) results …

Goal Achievement In Young Adults With Asperger Syndrome And High Functioning Autism, Melissa Racobaldo

Theses and Dissertations

Purpose: This study aimed to evaluate perspectives of young adults with Asperger syndrome (AS) and High Functioning Autism (HFA) regarding supports and services, future goals, and confidence in their success. The goal of this study was to identify valuable supports and areas in which this support was lacking. Identifying areas of support for young adults with AS/HFA transitioning into adulthood aids in providing consistent services for successful goal achievement. The study has value among genetic counselors as the discovery of genetic etiologies of autism has led to referral of families with ASD to the genetics clinic. Methods: Young adults with …

Investigating The Role Of Bptf In Immunoediting In Breast Cancer And Melanoma, Kristen N. Peterson

Theses and Dissertations

In this study, we explore the effects of NURF depletion on the growth of tumors in immune-competent mice. NURF depletion in tumors results in reduced tumor growth in immune-competent mice, suggesting enhanced anti-tumor immunity. Analysis of the tumor microenvironment by flow cytometry revealed a significantly elevated CD8 and progressively elevated activated CD8 phenotype in Bptf KD tumors, possibly contributing to the increase in cell death and decrease in tumor weight observed. Examination of antigen presentation was evaluated using the OT-1 and Pmel-17 models, though no significant difference in cytotoxicity was observed as measured by LDH and/or IFNγ assays. This indicates …

Shared Genetic Variance Between Obesity And White Matter Integrity In Mexican Americans, Elena A. Spieker, Peter Kochunov, Laura M. Rowland, Emma Sprooten, Anderson M. Winkler, Rene L. Olvera, Laura Almasy, Ravi Duggirala, Peter T. Fox, John Blangero, David C. Glahn, Joanne E. Curran

School of Medicine Publications

Obesity is a chronic metabolic disorder that may also lead to reduced white matter integrity, potentially due to shared genetic risk factors. Genetic correlation analyses were conducted in a large cohort of Mexican American families in San Antonio (N = 761, 58% females, ages 18–81 years; 41.3 ± 14.5) from the Genetics of Brain Structure and Function Study. Shared genetic variance was calculated between measures of adiposity [(body mass index (BMI; kg/m2) and waist circumference (WC; in)] and whole-brain and regional measurements of cerebral white matter integrity (fractional anisotropy). Whole-brain average and regional fractional anisotropy values for 10 major …

Functional Conservation Of An Ancestral Pellino Protein In Helminth Species, Christopher Cluxton, Brian Caffrey, Gemma Kinsella, Paul Moynagh, Mario Fares, Padraic Fallon

Articles

The immune system of H. sapiens has innate signaling pathways that arose in ancestral species. This is exemplified by the discovery of the Toll-like receptor (TLR) pathway using free-living model organisms such as Drosophila melanogaster. The TLR pathway is ubiquitous and controls sensitivity to pathogen-associated molecular patterns (PAMPs) in eukaryotes. There is, however, a marked absence of this pathway from the plathyhelminthes, with the exception of the Pellino protein family, which is present in a number of species from this phylum. Helminth Pellino proteins are conserved having high similarity, both at the sequence and predicted structural protein level, with that …

Transposon Based Gene Therapy As A Treatment For Cancer, Jacob Stauber

The Science Journal of the Lander College of Arts and Sciences

Gene therapy is the use of genes to treat or prevent diseases. Diseases such as cancer, which are difficult to treat using conventional methods, can be treated using gene therapy. The transport of the therapeutic transgene can be accomplished using viral or non-viral methods. However, widespread use of viral vectors is limited due to its high cost of manufacture and safety concern. Non-viral vectors are limited in their effectiveness. The use of transposons such as the Sleeping Beauty transposon system can effectively deliver the transgene with less concern than viral vectors. This review discusses the various vectors and treatment strategies …

Viability Of Sirna As A Clinical Treatment, Zev Blumenkranz

The Science Journal of the Lander College of Arts and Sciences

The purpose of this paper is to better understand the methods problems and some solutions for siRNA treatments. The benefits of this novel medical treatment are explored and its benefits are expounded on by comparing it to other more complex and futuristic treatments. The exact process of siRNA silencing and down regulation is unknown. Some hypotheses of how it may work are discussed giving precedence to the most widely accepted hypothesis. Although siRNA treatments are not yet used on a major scale for many diseases, different possible treatment options are compared and explained. Particular care was taken to give a …

Cyp2d7 Sequence Variation Interferes With Taqman Cyp2d6 (*) 15 And (*) 35 Genotyping., Amanda K. Riffel, Mehdi Dehghani, Toinette Hartshorne, Kristen C. Floyd, J Steven Leeder, Kevin P. Rosenblatt, Andrea Gaedigk

Manuscripts, Articles, Book Chapters and Other Papers

TaqMan™ genotyping assays are widely used to genotype CYP2D6, which encodes a major drug metabolizing enzyme. Assay design for CYP2D6 can be challenging owing to the presence of two pseudogenes, CYP2D7 and CYP2D8, structural and copy number variation and numerous single nucleotide polymorphisms (SNPs) some of which reflect the wild-type sequence of the CYP2D7 pseudogene. The aim of this study was to identify the mechanism causing false-positive CYP2D6 (*) 15 calls and remediate those by redesigning and validating alternative TaqMan genotype assays. Among 13,866 DNA samples genotyped by the CompanionDx® lab on the OpenArray platform, 70 samples were identified as …