Genetics Commons^™

The Differential Roles Of D-Pax2 Variants In Regulating Drosophila Eye And Bristle Development, Colin J. O’Shea

Honors Theses

The ability to appropriately interact with the environment is crucial to an organism’s survival. The establishment of functional sensory systems, such as the bristles and eyes in Drosophila, is a critical event during the development of the organism. The transcription factor D Pax2 is involved in the differentiation of the shaft and glial cells in the developing bristle (Kavaler et al., Dev, 126:2261-2272, 1999) and of the cone and primary pigment cells in the developing eye (Fu and Noll, Genes Dev, 11:389-405, 1997). How D-Pax2 contributes to distinct differentiative pathways in different cell types is not known. Recent work by …

The Role Of Mitochondria In The Radiation-Induced Bystander Effect In Human Lymphoblastoid Cells, Sountharia Rajendran

Wayne State University Theses

This work evaluated the radiation-induced bystander effect in mitochondrial mutant cells and in normal cells treated with mitochondrial inhibitors. Although much research has been performed on the bystander effect, the underlying molecular mechanisms remain largely unknown. Cells without intact mitochondrial DNA have been shown to lack the bystander effect, which is an energy-dependent process. Based on these findings, cells harboring mutations in the mitochondrial genes responsible for ATP synthesis, and normal cells treated with mitochondrial inhibitors, were hypothesized to show a decreased bystander effect when compared to normal cells that were not treated with the mitochondrial inhibitors.

Radiation-induced bystander effects …

Towards An Understanding Of The Etiology Of Abdominal Aortic Aneurysms: Identification Of Genes Implicated In Aaa Risk And Development, John Hunt Lillvis

Wayne State University Dissertations

Abdominal aortic aneurysm (AAA) is a common disease for which mechanisms of formation are still not well understood. Despite a strong genetic component to AAA risk, specific risk alleles are still largely unidentified. AAA is also a localized disease with a majority occurring in the infrarenal abdominal aorta and is six times more common than aneurysms of the thoracic aorta. To determine whether risk alleles are present in functional positional candidate genes. we: 1. performed a genetic association study using DNA from AAA cases and controls in ten candidate genes and 2. performed exon sequencing on three genes with evidence …

Genetic Connections Between Neurological Disorders And Cholesterol Metabolism, Ingemar Bjorkhem, Valerio Leoni, Steve Meaney

Articles

Cholesterol is an essential component of both the peripheral and central nervous systems of mammals. Over the last decade, evidence has accumulated that disturbances in cholesterol metabolism are associated with the development of various neurological conditions. In addition to genetically defined defects in cholesterol synthesis, which will be covered in another review in this Thematic Series, defects in cholesterol metabolism (cerebrotendinous xanthomatosis) and intracellular transport (Niemann Pick Syndrome) lead to neurological disease. A subform of hereditary spastic paresis (type SPG5) and Huntington's disease are neurological diseases with mutations in genes that are of importance for cholesterol metabolism. Neurodegeneration is generally …

Genotype And Allele Frequencies Of Nine Str Loci In Sikhs From Malaysia., Tan Chin Teck

Student Works (2010-2019)

Allele frequencies for nine short tandem repeats (STRs) gene loci (CSF1PO, TPOX,TH01, F13A01, FESFPS, vWA, D16S539, D7S820, D13S317) were obtained from analyses of saliva DNA from 109 unrelated healthy Sikh individuals residing in Malaysia. DNA was extracted using phenol/chloroform/isoamly alcohol method. 2ng of DNA for each sample was amplified following the instruction in GenePrint® STR Systems (Promega Corporation) CTT, FFv and SilverSTR III Multiplex kits. PCR products were separated in denaturing polyacrylamide gel electrophoresis and silver stained using Promega DNA Silver Staining System. The results were then calculated and processed to establish a statistical database for Sikh community. Chi-square test …

Isolation And Development Of Microsatellite Markers Of Channa Striata., Faiza Omar

Student Works (2010-2019)

Channa striata, locally known as haruan has long been regarded as a valuable edible fish and it is also consumed for its putative effects on wound healing. The main objective of the project was to develop microsatellite markers for use in the study of genetic diversity of the wild Channa striata populations in Malaysia. In this study, seven new microsatellite loci were isolated from Channa striata using a Random Amplified Microsatellite (RAMs) based technique which was an efficient and reliable method. Ten primers were used in population genetic studies of Channa striata.Sixty sets of microsatellite primer pairs were used in …

Agrobacterium-Mediated Transformation Of Cryptocoryne Willisii With Gus And Mgfp 5 Reporter Genes / Wong Sher Ming, Wong Sher Ming

Student Works (2010-2019)

In this study, a simple method using Murashige and Skoog basal medium (1962) supplemented with 6-BA alone was developed for direct multiple shoots induction from shoot base culture of C. willisii. Shoots proliferation and elongation were achieved on a single medium without the need of subculturing. The optimum concentration of 6-BA for direct shoots regeneration of C. willisii was investigated. It was found to be 6 mg/ L. Optimum media was then used for regenerate and propagate of transformed C. willisii. On the other hand, ransformation of C. willisii with Agrobacterium tumefaciens strain LBA4404 harbouring pCAMBIA1304 was performed. Effects on …

Application Of Pcr-Based Serogrouping Of Salmonella Enterica., Mohammed Elbagir Mohammed Elhassan Nori

Student Works (2010-2019)

Serotyping is the most fundamental approach in epidemiological surveillance and outbreak investigations for Salmonella. Many multiplex PCR assays have been reported for serotyping Salmonella based on O and H antigens. The aim of this study was to apply and improve the approach in differentiation and serotyping Salmonella enterica strains by combination of sequential multiplex PCRs targeting the O, H and Vi antigens of Salmonella, and this achieved by working on 126 strains. All the strains were purified on BSA and produced black colonies of Salmonella. The strains were confirmed by PCR amplification gene that targets the hilA. 122 of 126 …

Increased Perfusion And Angiogenesis In A Hindlimb Ischemia Model With Plasmid Fgf-2 Delivered By Noninvasive Electroporation, B. Ferraro, Y. L. Cruz, M. Baldwin, D. Coppola, R. Heller

Bioelectrics Publications

Gene therapy approaches delivering fibroblast growth factor-2 (FGF-2) have shown promise as a potential treatment for increasing blood flow to ischemic limbs. Currently, effective noninvasive techniques to deliver plasmids encoding genes of therapeutic interest, such as FGF-2, are limited. We sought to determine if intradermal injection of plasmid DNA encoding FGF-2 (pFGF) followed by noninvasive cutaneous electroporation (pFGFE+) could increase blood flow and angiogenesis in a rat model of hindlimb ischemia. pFGFE+ or control treatments were administered on postoperative day 0. Compared to injection of pFGF alone (pFGFE-), delivery of pFGFE+ significantly increased FGF-2 expression for 10 days. Further, the …

Ancient Dna Analyses Exclude Humans As The Driving Force Behind Late Pleistocene Musk Ox (Ovibos Moschatus) Population Dynamics, Paula F. Campos, Eske Willerslev, Andrei Sher, Ludovic Orlando, Erik Axelsson, Alexei Tikhonov, Kim Aaris-Sorensen, Alex D. Greenwood, Ralf-Dietrich Kahlke, Pavel Kosintsev

Biological Sciences Faculty Publications

The causes of the late Pleistocene megafaunal extinctions are poorly understood. Different lines of evidence point to climate change, the arrival of humans, or a combination of these events as the trigger. Although many species went extinct, others, such as caribou and bison, survived to the present. The musk ox has an intermediate story: relatively abundant during the Pleistocene, it is now restricted to Greenland and the Arctic Archipelago. In this study, we use ancient DNA sequences, temporally unbiased summary statistics, and Bayesian analytical techniques to infer musk ox population dynamics throughout the late Pleistocene and Holocene. Our results reveal …

Ecology And Genetics Of Philodina Megalotrocha (Rotifera, Bdelloidea) From Chihuahuan Desert Populations, Lina Kamel Hamdan

Open Access Theses & Dissertations

The Chihuahuan Desert is a unique region with high biodiversity. There is a high degree endemism of freshwater biota, but relatively few studies have been focused on zooplankton. Bdelloid rotifers are one component of these ecosystems and often dominate very temporary habitats. Bdelloids are usually assumed to be cosmopolitan species due to their potentially high dispersal rates. Distribution records of the bdelloid P. megalotrocha extend from North America to New Zealand. However, little is known about its ecology or genetics. The aims of this study are to: 1) determine whether the distribution of P. megalotrocha in the Chihuahuan Desert is …

Systematics Of The Genus Ptychadena Boulenger, 1917 (Anura: Ptychadenidae) From Democratic Republic Of The Congo, Katrina Marie Weber

Open Access Theses & Dissertations

This thesis increases the scope of previous phylogenetic analyses that revealed high levels of genetic differentiation within the anuran genus Ptychadena. Herein, I increase sampling of Central African populations of Ptychadena by over six times to examine their relationships to other African populations and to search for cryptic species. This study represents the most comprehensive molecular phylogeny of Ptychadena to date. A total of three mitochondrial (12S, 16S, and cyt b) and two nuclear (RAG1 and rhodopsin) genes were sequenced for 67 specimens of Ptychadena. Maximum parsimony, maximum likelihood, and Bayesian analyses were conducted. These analyses revealed …

Analysing The Effects Of Loss Of Sin3 In Drosophila Melanogaster, Aishwarya Swaminathan

Wayne State University Dissertations

Sin3A has been previously shown to be an essential gene for Drosophila viability and is implicated in the regulation of cell cycle. In this study, we show that SIN3 is not only required for embryonic viability but also for post-embryonic development. Genetic analysis suggests that the different isoforms of SIN3 may regulate unique sets of genes during development. The developmental lethality occurring due to ubiquitous knock down of SIN3 is hypothesized to be to the result of defects in cell proliferation. Conditional knock down of SIN3 in the wing discs results in a curly wing phenotype in the adult fly. …

Tracking Profiles Of Genomic Instability In Spontaneous Transformation And Tumorigenesis, Lesley Lawrenson

Wayne State University Dissertations

The dominant paradigm for cancer research focuses on the identification of specific genes for cancer causation and for the discovery of therapeutic targets. Alternatively, the current data emphasize the significance of karyotype heterogeneity in cancer progression over specific gene-based causes of cancer. Variability of a magnitude significant to shift cell populations from homogeneous diploid cells to a mosaic of structural and numerical chromosome alterations reflects the characteristic low-fidelity genome transfer of cancer cell populations. This transition marks the departure from micro-evolutionary gene-level change to macro-evolutionary change that facilitates the generation of many unique karyotypes within a cell population. Considering cancer …

Determination Of The Essential Functions Of A Conserved Cyclin, Cyclin Y, In Drosophila, Dongmei Liu

Wayne State University Dissertations

The Drosophila gene CG14939 encodes a member of a highly conserved family of cyclins, the Y type cyclins, which have not been functionally characterized in any organism. Here I report the generation and phenotypic characterization of a null mutant of CG14939, which we rename Cyclin Y (CycY). I show that the null mutant, CycY^E8, is homozygous lethal with most mutant animals arresting during pupal development. The mutant exhibits delayed larval growth and major developmental defects during metamorphosis. Heat shock-induced expression of CycY at different times during development resulted in variable levels of rescue, the timing …

The Role Of Ledgf/P75 In Transcriptional Regulation, Jeffrey Ryan Kugelman

Open Access Theses & Dissertations

The Lens Epithelial Derived Growth Factor p75 (LEDGF/p75) is a chromatin bound protein whose cellular function is not yet clearly known. A role in transcriptional regulation had been previously proposed based on its interaction with the basal transcriptional machinery and on its effects on the expression of genes involved in the cellular response to environmental stresses. To further elucidate the function of LEDGF/p75, we conducted a global and unbiased evaluation of the role of this protein in gene expression. To that aim, we performed a microarray analysis of cellular gene expression in cells that are severely depleted of LEDGF/p75. To …

Interleukin 6 And 8 Gene Expression Responses To Resistance Exercise And The Correlation To Muscle Mass, Vivien Massie

Theses : Honours

The post exercise inflammatory response is a key signalling mechanism regulating muscle protein synthesis. The purpose of this research was firstly to determine whether muscle mass in non-strength trained individuals was associated with the inflammatory muscle gene response after a single bout of eccentric muscle loading. Secondly, to determine whether changes in muscle cross-sectional area after a chronic increase in muscle loading (resistance training) is related to the inflammatory gene response to a single bout of muscle loading. Eleven male participants (21.6 ± 4.1 years) volunteered for this study. Each participant completed a preliminary testing session that consisted of two …

Dissecting The Biosyntheses Of Gilvocarcins And Ravidomycins, Madan Kumar Kharel

University of Kentucky Doctoral Dissertations

Gilvocarcin V (GV) and ravidomycin (RMV) exhibit excellent antitumor activities in the presence of near-UV light at low concentration maintaining a low in vivo cytotoxicity. Although, the exact molecular mechanism for in vivo actions of these antibiotics has yet to be determined, a [2+2] cycloaddition reaction of the vinyl side chain with DNA thymidine residues in addition to the inhibition of topoisomerase II and DNAhistone H3 cross-linking are reported for the GV’s mechanism of action. Such activities have made these molecules interesting candidates for the biosynthetic investigation to generate analogues with improved activity/solubility. Previous biosynthetic studies have suggested that the …

High-Density Screening Reveals A Different Spectrum Of Genomic Aberrations In Chronic Lymphocytic Leukemia Patients With ‘Stereotyped’ Ighv3-21 And Ighv4-34 B-Cell Receptors, Millaray Marincevic, Nicola Cahill, Rebeqa Gunnarsson, Anders Isaksson, Mahmoud Mansouri, Hanna Göransson, Markus Rasmussen, Mattias Jansson, Fergus Ryan, Karin Karlsson, Hans-Olov Adami, Fred Davi, Jesper Jurlander, Gunnar Juliusson, Kostas Stamatopoulos, Richard Rosenquist

Articles

Background The existence of multiple subsets of chronic lymphocytic leukemia expressing ‘stereotyped’ Bcell receptors implies the involvement of antigen(s) in leukemogenesis. Studies also indicate that ‘stereotypy’ may influence the clinical course of patients with chronic lymphocytic leukemia, for example, in subsets with stereotyped IGHV3-21 and IGHV4-34 B-cell receptors; however, little is known regarding the genomic profile of patients in these subsets. Design and Methods We applied 250K single nucleotide polymorphism-arrays to study copy-number aberrations and copy-number neutral loss-of-heterozygosity in patients with stereotyped IGHV3-21 (subset #2, n=29), stereotyped IGHV4-34 (subset #4, n=17; subset #16, n=8) and non-subset #2 IGHV3-21 (n=13) and …