Genetics Commons^™

Haemochromatosis Mutation Analysis In A Normal Irish Population, Fergus Ryan, Joseph Vaughan

Articles

187 Irish blood donors were examined for the presence of C282Y and H63D missense mutations using a multiplex PCR and restriction digest protocol. The allele frequency for C282Y was found to be 12.3% which is higher than reported in other studies and concurs that this mutation is of Celtic origin.

Recent Progress In Psychiatric Genetics—Some Hope But No Hype, Scott F. Stoltenberg, Margit Burmeister

Department of Psychology: Faculty Publications

The reputation of the field of psychiatric genetics has recently become tarnished in the view of many human geneticists. Too many linked loci were claimed and withdrawn, too many association studies published and not confirmed, and, more recently, too many new and different chromosomal regions have been implicated for the same disorder. Here, we summarize recent trends, focusing on research that moves away from traditional linkage studies. Some promising strategies include psychopharmacogenetics and consideration of endophenotypes such as neurophysiological and behavioral markers in addition to the clinical diagnosis. Utilization of rapid and automated methods for scoring genetic variants in large-scale …

Transcriptional Regulation Of Chicken Apolipoprotein A-I Gene Expression, Wen Lin Kumfert

Theses and Dissertations in Biomedical Sciences

Deregulation of a set of critical cellular genes has long been speculated as a cause of the oncogenic transformation induced by v-Jun oncoprotein. In the past several years, extensive efforts have been made to identify such genes. Several target genes have been identified that are specifically associated with the v-Jun induced transformation phenotype in chicken embryo fibroblasts (CEF).

We have undertaken the objective to identify and characterize the genes that become deregulated in response to, or as a consequence of, Jun-induced transformation. By exploiting the difference in oncogenic potential between v-Jun and c-Jun in CEF, the chicken apolipoprotein A-I (apoA-I) …

Oxidative Stress Resistance: A Robust Correlated Response To Selection In Extended Longevity Lines Of Drosophila Melanogaster?, Lawrence G. Harshman, Beth A. Haberer

Lawrence G. Harshman Publications

Stress resistance is associated with longevity in Drosophila melanogaster and other model organisms used for genetic research. The present study tests for oxidative stress resistance in one set of lines selected for late-life reproduction and extended longevity. Both females and males from the selected lines were appreciably more resistant to oxidative stress than were flies from the control lines. A relative increase in oxidative stress resistance is a correlated response to selection in this laboratory selection experiment. Increased oxidative stress resistance appears to be a relatively robust correlated response to laboratory selection for late-life reproduction and extended longevity.

Studying The Expression Of A Novel Microsatellite Mrna In Chironomous Riparius, Mina Ranzurmal

Seton Hall University Dissertations and Theses (ETDs)

The expression of a unique mRNA containing a microsatellite sequence was studied in C. riparius using differential display. First, the rnicrosatellite fragment was sequenced using Sanger's Sequencing method. The microsatellite cDNA contained 11 "ACA" repeats, 12 "AC" repeats, and 5 "CTC" repeats. Second, the affects of cadmium and heat shock on rnicrosatellite mRNA expression were studied. In cadmium experiments, larvae were exposed to low cadmium concentrations (0, 0.04, 0.4, and 4.0 mM) for 24 and 48 h and high cadmium concentrations (0, 1.0, 2.0, 4.0, 8.0, and 16.0 mM) for 48 h. The effects of cadmium on fed larvae at …

Monogenic Control Of Iris Coloration In The January Tetra (Hemigrammus Hyanuary Characidae), Jack Frankel

Department of Biology Faculty Publications

The January tetra (Hemigrammus hyanuary Durbin) exhibits two eye color phenotypes. These have a silver iris, which is characteristic of the species, and a green color variant. Segregation patterns observed in the progenies from 12 different crosses support an hypothesis for the monogenic inheritance of iris coloration in this species.

Bridging The Gap Between Life Insurer And Consumer In The Genetic Testing Era: The Rf Proposal, Christopher M. Keefer

Indiana Law Journal

No abstract provided.

Genetic And Structural Analyses Of Cytoplasmic Filaments Of Wild-Type Treponema Phagedenis And A Flagellar Filament-Deficient Mutant, Jacques Izard, William A. Samsonoff, Mary Beth Kinoshita, Ronald J. Limberger

Department of Food Science and Technology: Faculty Publications

Unique cytoplasmic filaments are found in the treponeme genus of spirochete bacteria. Their function is unknown, but their location underneath the periplasmic flagellar filaments (PFF) suggests a role in motility and/or cell structure. To better understand these unique structures, the gene coding for the cytoplasmic filaments, cfpA, was identified in various treponemal species. Treponema phagedenis cfpA was 2,037 nucleotides long, and the encoded polypeptide showed 78 to 100% amino acid sequence identity with the partial sequence of CfpA from T. denticola, T. vincentii, and T. pallidum subsp. pertenue. Wild-type T. phagedenis and a …

Insertional Inactivation Of Treponema Denticola Tap1 Results In A Nonmotile Mutant With Elongated Flagellar Hooks, Ronald J. Limberger, Linda L. Slivienski, Jacques Izard, William A. Samsonoff

Department of Food Science and Technology: Faculty Publications

The treponemal fla operon is comprised of numerous motility-related genes; however, the initial gene of this operon, tap1, has no known function. A recently developed system to generate specific mutants in Treponema denticola was utilized to determine if Tap1 was essential for motility. T. denticola tap1 and flanking DNA were identified, cloned, and sequenced, and a suicide plasmid that contained tap1 interrupted with an erythromycin resistance cassette (ermF and ermAM) was constructed. Because of potential polar effects from this cassette, a second plasmid that contained tap1 interrupted with a modified erythromycin resistance cassette that lacked the putative ermF transcription …

Cbfa2 Is Required For The Formation Of Intra-Aortic Hematopoietic Clusters, Trista North, Ting-Lei Gu, Stacy Terryl, Qing Wang, Louisa Howard, Michael Binder, Miguel Marín-Padilla, Nancy A. Speck

Dartmouth Scholarship

Cbfa2 (AML1) encodes the DNA-binding subunit of a transcription factor in the small family of core-binding factors (CBFs). Cbfa2 is required for the differentiation of all definitive hematopoietic cells, but not for primitive erythropoiesis. Here we show that Cbfa2 is expressed in definitive hematopoietic progenitor cells, and in endothelial cells in sites from which these hematopoietic cells are thought to emerge. Endothelial cells expressing Cbfa2 are in the yolk sac, the vitelline and umbilical arteries, and in the ventral aspect of the dorsal aorta in the aorta/genital ridge/mesonephros (AGM) region. Endothelial cells lining the dorsal aspect of the aorta, and …

Amplification Of The Phenol Hydroxylase Promoter Region Of Pseudomonas Putida Cf600 As A Precursor For Transcriptional Fusion, Priya Bhat

Honors Capstone Projects and Theses

No abstract provided.

Balancing Interests In Frozen Embryo Disputes: Is Adoption Really A Reasonable Alternative?, David L. Theyssen

Indiana Law Journal

No abstract provided.

Genome-Wide Bioinformatic And Molecular Analysis Of Introns In Saccharomyces Cerevisiae, Marc Spingola, Leslie Grate, David Haussler, Manuel Ares

Biology Department Faculty Works

Introns have typically been discovered in an ad hoc fashion: introns are found as a gene is characterized for other reasons. As complete eukaryotic genome sequences become available, better methods for predicting RNA processing signals in raw sequence will be necessary in order to discover genes and predict their expression. Here we present a catalog of 228 yeast introns, arrived at through a combination of bioinformatic and molecular analysis. Introns annotated in the Saccharomyces Genome Database (SGD) were evaluated, questionable introns were removed after failing a test for splicing in vivo, and known introns absent from the SGD annotation were …

Ecdysteroid Titers In Mated And Unmated Drosophila Melanogaster Females, Lawrence G. Harshman, Anne M. Loeb, Beth A. Johnson

Lawrence G. Harshman Publications

Radioimmunoassay was used to determine ecdysteroid titers in mated or unmated Drosophila melanogaster females. Whole-body ecdysteroid titers increase after mating and this response is more pronounced after 12–24 hours than it is immediately after mating. In one experiment, females were mated to transgenic males deficient in accessory gland proteins to test whether these peptides mediate the observed increase in female whole-body ecdysteroid titers. Females mated to such transgenic males do not show a pronounced increase in whole-body ecdysteroid titers. The effect of mating on female hemolymph ecdysteroid titers was also investigated. Hemolymph ecdysteroid titers decrease after mating. The ecdysteroid titer …

The Expression Of The Crf1 Gene In Mouse Embryonic Development, Margaret Gruber

Presidential Scholars Theses (1990 – 2006)

A mouse gene cloned in the laboratory of James and Olivia Smith at Baylor College of Medicine was found to be involved in motor function. This gene was named CRFl for Clq-Related Factor 1, and using in situ hybridization, it was found to be expressed mainly in the brainstem of adult mice. There is a gene similar to the CRFl gene in humans. By determining this gene's role in mouse development, more will be known about the development of human motor function.

To determine the stage of embryonic development at which the expression of this gene …

Social Implications Of Genetic Testing, Karen H. Rothenberg

Faculty Scholarship

This paper examines the social implications of predictive genetic testing and its impact on the insurance industry. Although the Human Genome Project has the potential to improve the health of our nation, it also may serve as a means of highlighting genetic differences among individuals and ethnic groups. Thus, if we are to reach the full promise of the Project, society must address the public's fears of genetic discrimination in insurance and employment context. Following an analysis of state and federal legislation on genetic privacy and discrimination, the paper concludes with a challenge to the insurance industry to work with …

Plant Hybrid Zones And Insect Host Range Expansion, Diana Pilson

Diana Pilson Publications

The hybrid bridge hypothesis suggests that plant hybrids ‘‘bridge’’ the genetic gap between actual and potential host species, and that, for this reason, herbivorous insects are more likely to evolve an expanded host range in the presence of hybrids. While intuitively appealing, the hypothesis has two implicit assumptions: that phenotypic gaps between potential hosts limit host range, and that characters controlling host use are additively inherited in plant hybrids. Evaluation of these assumptions suggests that operation of the hybrid bridge hypothesis is relatively uncommon. In addition, the hypothesis has not been well integrated into existing theoretical and empirical work on …

Potential Associations Among Genetic Markers In The Serotonergic System And The Antisocial Alcoholism Subtype, E. M. Hill, S. F. Stoltenberg, M. Burmeister, M. Closser, R. A. Zucker

Department of Psychology: Faculty Publications

Alcoholism is transmitted in families. The complexity and heterogeneity of this disorder has made it difficult to identify specific genetic correlates. One design with the potential to do so is the family-based association study, in which the frequencies of genetic polymorphisms are compared between affected and nonaffected members. Reduced central serotonin neurotransmission is associated with features of an antisocial subtype of alcoholism, although a primary deficit has not been traced to a particular component. Genetic markers related to the serotonergic system have been identified, located, and cloned. If associations can be discovered, the development process for pharmacotherapy could be facilitated. …

Mutational Analysis Of A Transcriptional Activation Region Of The Vp16 Protein Of Herpes Simplex Virus, Susan M. Sullivan, Peter J. Horn, Victoria A. Olson, Allen H. Koop

University Faculty Publications and Creative Works

The VP16 protein of herpes simplex virus is a potent transcriptional activator of the viral immediate early genes. The transcriptional activation region of VP16 can be divided into two functional subregions, here designated VP16N (comprising amino acids 413-456) and VP16C (amino acids 450-490). Assays of VP16C mutants resulting from both random and alanine-scanning mutagenesis indicated that the sidechains of three phenylalanines (at positions 473, 475 and 479) and one acidic residue (glutamate 476) are important for transcriptional activation. Aromatic and bulky hydrophobic amino acids were effective substitutes for each of the three Phe residues, whereas replacement with smaller or polar …

Heritability Of Expression Of The 70kd Heat-Shock Protein In Drosophila Melanogaster And Its Relevance To The Evolution Of Thermotolerance, Robert A. Krebs, Martin E. Feder, Jeehyun Lee

Biological, Geological, and Environmental Faculty Publications

The principle inducible heat-shock protein of Drosophila melanogasrer, Hsp70, contributes to thermotolerance throughout the entire life cycle of the species but may also reduce fitness in some life stages. In principle, selection might maximize the benefits of Hsp70 expression relative to its costs by adjusting the magnitude of Hsp70 expression for each life-cycle stage independently. Therefore we examined whether the magnitude of Hsp70 ex pre sion varied during the life cycle and the relationship of this variation to several life-history traits. For 28 isofemale lines derived from a single natural population, estimates of heritable variation in Hsp70 expression ranged between …

Identification Of A Genetic Marker For Litter Size In Sheep, Olivia Price

Undergraduate Honors Capstone Projects

The purpose of this experiment was to determine if the estrogen receptor gene (ESR) could be used as a genetic marker for litter size in sheep. The estrogen receptor gene was chosen because it has been successfully used as a genetic marker for litter size in swine. In this study, DNA dilutions from two experimental flocks, totaling approximately 200 animals, were used. Amplification of exon 1/intron 1 of the ESR gene was performed using PCR. Initial results indicated a polymorphism in the gene when cut with the restriction enzyme Ava ll. It appeared that the gene contained a deletion with …

The Use Of Isoelectric Focusing To Assess The Genetic Diversity Of The Cyprinid Fishes: Rhinichthys Cataractae And Rhinichthys Atratulus In West Virginia, Fauzia Alam Miah

Theses, Dissertations and Capstones

In this study, isoelectric focusing is used to separate proteins of Rhinichthys cataractae and R. atratulus and conventional staining is used to identify alleles of six genes. The objective of this work is to determine whether these methods can effectively assay isozymes that may be used to establish the relationship between anthropogenic stress and genetic diversity. Alleles for LDH-A, LDH-B, EST-A, EST-B, EST-C, and EST-D loci were identified for two species of fish, R. atratulus and R. cataractae. Both fish species are known to be sensitive to anthropogenic stress and known to be widely distributed in stressed environments. Alleles …

Toward A Framework Of Mutualism: The Jewish Community In Genetics Research, Karen H. Rothenberg, Amy B. Rutkin

Faculty Scholarship

No abstract provided.

Methicillin Resistant Staphylococcus Aureus (Mrsa): Molecular Detection And Dna Fingerprinting, Leslie Cotter

Theses

Throughout the 1990s, the incidence of methicillin-resistant Staphylococcus aureus has increased in many health care areas including acute and chronic care facilities, outpatient clinics and in the community. Once introduced into a health care environment, this nosocomial pathogen can spread rapidly and as MRSA are resistant to multiple antibiotics, treatment is often difficult. Therefore effective infection control measures are required to prevent cross-infection and further spread of endemic strains.

In this study, a sensitive and specific triplex-PCR assay was designed for MRSA detection, wherein three genes, the methicillin resistance gene (mecA). femA and the extracellular thermonuclease gene (rmc) were simultaneously …

Draft: Plan For The Management Of The Houtman Abrolhos Islands Fish Habitat Protection Area (Schedule 1), Abrolhos Islands Management Advisory Council, Fisheries Department Of Western Australia

Fisheries Management Papers

This document is a separate draft plan which has been prepared to meet the requirements of Section 117 of the Fish Resources Management Act 1994. It contains a description of the area; outlines the purposes for which the area is to be set aside; and lists the recommendations contained in Fisheries Management Paper No. 104, Management of the Houtman Abrolhos System, which relate to the management of the proposed Fish Habitat Protection Area.

Management Of The Houtman Abrolhos System, Abrolhos Islands Management Advisory Council, Fisheries Department Of Western Australia

Fisheries Management Papers

In November 1995 Cabinet resolved that the Minister for Fisheries would establish the Abrolhos Islands Management Advisory Committee (AIMAC) pursuant to Section 42 of the Fish Resources Management Act 1994. The role of AIMAC is to advise the Minister for Fisheries about the management of the Abrolhos Islands and the adjoining State Territorial Waters, as detailed in Section 2.2.3.1 of this report. The AIMAC has overseen the preparation of this report on behalf of the Minister for Fisheries. This draft report contains a brief description of the Abrolhos System and its special values. It also states goals and objectives for …

Abalone Aquaculture In Western Australia. Discussion Paper And Draft Policy Guidelines., Cameron Westaway, Jeff Norriss

Fisheries Management Papers

The purposes of this discussion paper is to highlight relevant issues associated with abalone aquaculture development and outline a set of draft policy guidelines. The paper is being disseminated to members of the aquaculture industry, commercial and recreational fishing bodies and the broader community to allow comment.

Cancer Genetic Susceptibility Testing: Ethical And Policy Implications For Future Research And Clinical Practice, Benjamin S. Wilfond, Karen H. Rothenberg, Elizabeth J. Thomson, Caryn Lerman

Faculty Scholarship

No abstract provided.

Sex Chromosome Ratios And Aneuploidy Rates In The Zona Pellucida Selected Spermatozoa From Normal And Subfertile Men, Qinuo Fan Van Dyk

Theses and Dissertations in Biomedical Sciences

The human hemizona has been demonstrated to select spermatozoa with good motility, normal morphology, and the capacity to undergo the zona-induced acrosomal reaction. The studies conducted here are directed at using the human hemizona to investigate two key questions: (1) whether human X-chromosome bearing spermatozoa (X-sperm) and Y-chromosome bearing spermatozoa (Y-sperm) differ in their functional survival time (assessed by their capacity to bind to the human zona pellucida) after prolonged in vitro incubation, and (2) whether hemizona-bound spermatozoa have a reduced aneuploidy rate compared to unbound (and therefore, unselected) spermatozoa?

In the functional survival study, donor spermatozoa were held in …

Draft: Optimising The Worth Of The Lobster Catch: Options And Issues, Marec Pty Ltd

Fisheries Management Papers

The purpose of this document is to contribute to informed discussion on alternative measures which might be adopted to optimise the worth of the lobster catch. In doing so, it provides a number of possible initiatives which could be more closely examined for adoption. Details of issues are provided which should be taken into consideration when assessing the various proposals. The industry as it is today is examined and assessed, and its achievements analysed. The possible initiatives proposed stem from this research. As a consequence of this document, the rock lobster industry could undertake to proceed with a detailed examination …