Genetics and Genomics Commons^™

Human Genetic Variation And Health: New Assessment Approaches Based On Ethnogenetic Layering, Fatimah Linda Collier Jackson

Department of Biology Faculty Publications

Human genetic variation is often biologically relevant, particularly when it influences (or is influenced by) health outcomes. For example, human genetic variation can modulate disease aetiology as in the case ofhomozygous beta sickle gene (βS/βS or sickle cell) pathology. Conversely, health outcomes, such as the frequency and duration of homozygous sickle cell pathology, can change affected group gene frequencies by selectively targeting and culling specific genotypes in a group, such as clinically more severe βS Bantu/βS Bantu versions of the βS gene, thereby changing future patterns of genetic variation in this gene.

Detection Of Five Common Cftr Mutations By Rapid-Cycle Real Time Amplification Refractory Mutation System Pcr., Eugene Dempsey, David Barton, Fergus Ryan

Articles

No abstract provided.

Initial State Of The Drosophila Eye Before Dorsoventral Specification Is Equivalent To Ventral, Amit Singh, Kwang-Wook Choi

Biology Faculty Publications

Dorsoventral (DV) patterning is crucial for eye development in invertebrates and higher animals. DV lineage restriction is the primary event in undifferentiated early eye primordia of Drosophila. InDrosophila eye disc, a dorsal-specific GATA family transcription factor pannier (pnr) controls Iroquois-Complex (Iro-C) genes to establish the dorsal eye fate whereas Lobe (L), which is involved in controlling a Notch ligand Serrate (Ser), is specifically required for ventral growth. However, fate of eye disc cells before the onset of dorsal expression of pnr and Iro-C is not known. We show that L/Ser …

Comprehensive Analysis Of Class I And Class Ii Hla Antigens And Chronic Hepatitis B Virus Infection, Chloe L. Thio, David L. Thomas, Peter Karacki, Xiaojiang Gao, Darlene Marti, Richard A. Kaslow, James J. Goedert, Margaret Hilgartner, Steffanie A. Strathdee, Priya Duggal, Stephen J. O'Brien, Jacquie Astemborski, Mary Carrington

Biology Faculty Articles

Following an acute hepatitis B virus (HBV) infection, clearance or persistence is determined in part by the vigor and breadth of the host immune response. Since the human leukocyte antigen system (HLA) is an integral component of the immune response, we hypothesized that the highly polymorphic HLA genes are key determinants of viral clearance. HLA class I and II genes were molecularly typed in 194 Caucasian individuals with viral persistence and 342 matched controls who had cleared the virus. A single class I allele, A*0301 (odds ratio [OR], 0.47; 95% confidence interval [CI], 0.30 to 0.72; P = 0.0005) was …

The Hyperthermophilic Archaeon Sulfolobus: From Exploration To Exploitation, Stan J.J. Brouns, Thijs J.G. Ettema, Kenneth M. Stedman, Jasper Walther, Hauke Smith, Ambrosius P.L. Snijders, Mark Young, Rolf Bernander, Phillip C. Wright, Betina Siebers, John Van Der Oost

Biology Faculty Publications and Presentations

In the early 1970s, Sulfolobus was first isolated by Thomas Brock and co-workers from sulfur-rich acidic hot springs in Yellowstone National Park. Sulfolobus became one of the model organisms of Archaea in general, and of Crenarchaea in particular. Many of its unusual physiological characteristics have been investigated, and several of its thermostable enzymes have been studied in considerable detail. For fundamental reasons, and because of its potential for industrial applications, Sulfolobus has been selected for a genome sequence project. The recent completion of the Sulfolobus solfataricus genome has set the stage for a series of postgenome research lines that will …

Life Cycle Of A Torrenticolous Hawaiian Chironomid (Telmatogeton Torrenticola): Stream Flow And Microhabitat Effects, M. Eric Benbow, Albert J. Burky, Carl M. Way

Biology Faculty Publications

In this study we documented the instar densities and life cycle of Telmatogeton torrenticola Terry (Chironomidae : Telmatogetoninae) from Kinihapai Stream, Maui, Hawaii. Greatest larval densities of this midge are found on substrates of high velocity, shallow flows of cascades, and splash zones of waterfalls, with lower densities in riffles. In the summer of 1994 we compared the effects of two microhabitats (termed optimal and suboptimal) on inter-instar density and relative abundance. In a second year (1995), we evaluated the effect of long-term reduced stream flow on these variables only in optimal microhabitats. A significant reduction in stream flow from …

Blackwell Publishing Ltd. Chondrocranial, Hyobranchial And Internal Oral Morphology In Larvae Of The Basal Bufonid Genus Melanophryniscus (Amphibia: Anura), Peter M. Larson, Rafael O. De Sá, Diego Arrieta

Biology Faculty Publications

Melanophryniscus is a genus of small toads inhabiting the southern portion of South America. This genus is considered basal within the family Bufonidae. Data on larval chondrocranial morphology do not exist for the genus and larval internal oral anatomy has only been described for a single species. Here, we describe chondrocranial and internal oral morphology in Melanophryniscus montevidensis, M. orejasmirandai and M. sanmartini. Chondrocranial morphology is similar among the species examined. Comparisons with other bufonids and with outgroup taxa suggest that the following chondrocranial characters may represent synapomorphies for the Bufonidae: free (or absent) ceratobranchial IV, a reduced …

An Analysis Of Diversity In Freshwater Mussels (Bivalvia: Unionidae) Of The Cuyahoga And Rocky River Watersheds (Ohio, Usa) Based On The 16s Rrna Gene, Robert A. Krebs, Roxana N. Vlasceanu, Michael J.S. Tevesz

Biological, Geological, and Environmental Faculty Publications

The continued loss of freshwater unionid mussel species in the Great Lakes region, and particularly from Lake Erie, raises the question of how much phylogenetic and genetic variation remain in the watershed. The introduction of molecular markers into population biology offers one reproducible technique for assessing this variation. A fragment of the 16S rRNA gene of mitochondrial DNA has previously been used to infer phylogenetic relationships in the family Unionidae. Therefore, we reanalyzed these published molecular data with the addition of 12 species from the Cuyahoga and Rocky rivers in northeast Ohio. Both rivers drain to Lake Erie. The species …

Lack Of Proopiomelanocortin Peptides Results In Obesity And Defective Adrenal Function But Normal Melanocyte Pigmentation In The Murine C57bl/6 Genetic Background, James L. Smart, Malcolm J. Low

Faculty Publications - Department of Biological & Molecular Science

No abstract provided.

Regression Approaches For Microarray Data Analysis, Mark R. Segal, Kam D. Dahlquist, Bruce R. Conklin

Biology Faculty Works

A variety of new procedures have been devised to handle the two sample comparison (e.g., tumor versus normal tissue) of gene expression values as measured with microarrays. Such new methods are required in part because of some defining characteristics of microarray-based studies: (i) the very large number of genes contributing expression measures which far exceeds the number of samples (observations) available, and (ii) the fact that by virtue of pathway/network relationships, the gene expression measures tend to be highly correlated. These concerns are exacerbated in the regression setting, where the objective is to relate gene expression, simultaneously for multiple genes, …

Mappfinder: Using Gene Ontology And Genmapp To Create A Global Gene-Expression Profile From Microarray Data, Scott W. Doniger, Nathan Salomonis, Kam D. Dahlquist, Karen Vranizan, Steven C. Lawlor, Bruce R. Conklin

Biology Faculty Works

MAPPFinder is a tool that creates a global gene-expression profile across all areas of biology by integrating the annotations of the Gene Ontology (GO) Project with the free software package GenMAPP (http://www.GenMAPP.org). The results are displayed in a searchable browser, allowing the user to rapidly identify GO terms with over-represented numbers of geneexpression changes. Clicking on GO terms generates GenMAPP graphical files where gene relationships can be explored, annotated, and files can be freely exchanged.

Shar-Pei Mediates Cell Proliferation Arrest During Imaginal Disc Growth In Drosophila, Madhuri Kango-Singh, Riitta Nolo, Chunyao Tao, Patrik Verstreken, P. Robin Hiesinger, Hugo J. Bellen, Georg Halder

Biology Faculty Publications

During animal development, organ size is determined primarily by the amount of cell proliferation, which must be tightly regulated to ensure the generation of properly proportioned organs. However, little is known about the molecular pathways that direct cells to stop proliferating when an organ has attained its proper size. We have identified mutations in a novel gene, shar-pei, that is required for proper termination of cell proliferation during Drosophila imaginal disc development. Clones of shar-pei mutant cells in imaginal discs produce enlarged tissues containing more cells of normal size. We show that this phenotype is the result of both …

Workshop On Sustainable Development Of Marine Fish Farming In Wa, Peter Rogers, R Fletcher

Fisheries Management Papers

The purpose of this paper is twofold. First to provide an overview of the role of government and more particularly the Department of Fisheries and second to outline government expectations for aquaculture development agencies in the implementation of sustainable development initiatives and the effect this could have on the management of aquaculture within WA.

Eye Suppression, A Novel Function Of Teashirt, Requires Wingless Signaling, Amit Singh, Madhuri Kango-Singh, Y. Henry Sun

Biology Faculty Publications

Teashirt (tsh) encodes a Drosophila zinc-finger protein. Misexpression of tsh has been shown to induce ectopic eye formation in the antenna. We report that tsh can suppress eye development. This novel function of tsh is due to the induction of homothorax (hth), a known repressor of eye development, and requires Wingless (WG) signaling. Interestingly, tsh has different functions in the dorsal and ventral eye, suppressing eye development close to the ventral margin, while promoting eye development near the dorsal margin. It affects both growth of eye disc and retinal cell differentiation.

The Tadpole Of Proceratophrys Avelinoi (Anura: Leptodactylidae), Rafael O. De Sá, José A. Langone

Biology Faculty Publications

The genus Proceratoprhrys is poorly known. It consists of 14 currently recognized species (Frost, 2000) of medium-sized frogs distributed from northeastern Argentina and Paraguay to southeast Amazonia (Rondonia State), eastern and southern Brazil. Proceratophrys avelinoi was described from Misiones, Argentina (Mercadal de Barrio and Barrio, 1993). The larval stage of this species is unknown. Herein, we describe the tadpole and the characteristics of the internal oral anatomy of P avelinoi using scanning electron micros- copy (SEM).

Caudal Spotting In The Beacon Fish (Hemigrammus Ocellifer Characidae), Jack Frankel

Department of Biology Faculty Publications

The beacon fish (Hemigrammus ocellifer) exhibits two phenotypes associated with spotting at the base of the caudal fin, with fish either possessing (H. o. ocellifer) or lacking (H. o. falsus) a prominent red spot in this region. Segregation patterns observed from the progenies of 15 different crosses support a hypothesis that caudal spotting in this species is controlled by a single gene with two alleles, for which the caudal spotting allele is completely dominant.

Processes For The Allocation, Reallocation And Governance Of Resource Access In Connection With A Framework For The Future Management Of Fisheries In Western Australia, Government Of Western Australia Department Of Fisheries

Fisheries Management Papers

This paper outlines the issues associated with developing a framework to deal explicitly with the allocation, reallocation and the governance of access to the fisheries resources of Western Australia.

Neurospora Clock-Controlled Gene 9 (Ccg-9) Encodes Trehalose Synthase: Circadian Regulation Of Stress Responses And Development, Mari L. Shinohara, Alejandro Correa, Deborah Bell-Pedersen, Jay C. Dunlap, Jennifer J. Loros

Dartmouth Scholarship

The circadian clock of Neurospora crassa regulates the rhythmic expression of a number of genes encoding diverse functions which, as an ensemble, are adaptive to life in a rhythmic environment of alternating levels of light and dark, warmth and coolness, and dryness and humidity. Previous differential screens have identified a number of such genes based solely on their cycling expression, including clock-controlled gene 9 (ccg-9). Sequence analysis now shows the predicted CCG-9 polypeptide to be homologous to a novel form of trehalose synthase; as such it would catalyze the synthesis of the disaccharide trehalose, which plays an important …

Mouse Ribonuclease Iii. Cdna Structure, Expression Analysis, And Chromosomal Location, Kristine R. Fortin, Rhonda H. Nicholson, Allen W. Nicholson

Wayne State University Associated BioMed Central Scholarship

Abstract

Background

Members of the ribonuclease III superfamily of double-stranded(ds)-RNA-specific endoribonucleases participate in diverse RNA maturation and decay pathways in eukaryotic and prokaryotic cells. A human RNase III orthologue has been implicated in ribosomal RNA maturation. To better understand the structure and mechanism of mammalian RNase III and its involvement in RNA metabolism we determined the cDNA structure, chromosomal location, and expression patterns of mouse RNase III.

Results

The predicted mouse RNase III polypeptide contains 1373 amino acids (~160 kDa). The polypeptide exhibits a single C-terminal dsRNA-binding motif (dsRBM), tandem catalytic domains, a proline-rich region (PRR) and an RS domain. …

Functional Requirement Of Aquaporin-5 In Plasma Membranes Of Sweat Glands, Lene N. Nejsum, Tae-Hwan Kwon, Uffe B. Jensen, Ornella Fumagalli, Jørgen Frøkiaer, Carissa M. Krane, Anil G. Menon, Landon S. King, Peter C. Agre, Søren Nielsen

Biology Faculty Publications

The distribution and function of aquaporins (AQPs) have not previously been defined in sweat glands. In this study, AQP1, AQP3, and AQP5 mRNA were demonstrated in rat paw by reverse transcription (RT)–PCR, but AQP2 and AQP4 were not. AQP1, AQP3, and AQP5 protein were confirmed in these tissues by immunoblotting. AQP1 was identified in capillary endothelial cells by immunohistochemical labeling, but not in sweat glands or epidermis. Abundant AQP3 expression was seen in basal levels of epidermis, but not in sweat glands. AQP2 and AQP4 were not observed in either skin or sweat glands. Immunohistochemical labeling revealed abundant AQP5 in …

A Note On Cascade Climbing Of Migrating Goby And Shrimp Postlarvae In Two Maui Streams, M. Eric Benbow, Leslie Luchar Orzetti, Mollie D. Mcintosh, Albert J. Burky

Biology Faculty Publications

In this study, we documented cascade climbing rates of 133 and 230 postlarvae of Lentipes concolor (O‘opu alamo‘o) and Atyoida bisulcata (Opae kahaole), respectively, from two streams on the island of Maui, Hawaii. Climbing measurements and observations were made of postlarvae at the water-substrate interface in cascade habitats of constricted water flow. Both species were observed to move in short bursts of forward progression within or above the pulsing water-substrate interface. Goby postlarval climbing rates ranged from 0.04 – 1.50 cm s–1 and were slower than shrimp rates which ranged from 0.30 – 3.06 cm s–1. The high variability is …

Genetic Diversity Of Balbiani Ring L Gene In Two Species Of Chironomus, Lola-Mae Palmer

Seton Hall University Dissertations and Theses (ETDs)

Differences in genetic composition have been predicted among aquatic midge fly larva called chironomids. Although several genes including microsatellites and ribosomal protein genes have been explored in our lab, the gene that has so far been studied the most is the Balbiani Ring (BR) 1 gene. There are several genes in this family, including Balbiani Ring 2.1, 2.2 and 6. These BR genes are known to contain long arrays of tandemly repeated units with a ranked repeat organization (Paulsson et al.1992). This secretory protein gene forms a large puff located on polytene chromosome IV (Bentivegna et al., 1993). The gene …

Genomes, Gould, And Emergence, Ursula Goodenough

Biology Faculty Research

The publication of the human genome has elicited commentary to the effect that, since fewer genes were identified than anticipated, it follows that genes are less important to human biology than anticipated. The flaws in this syllogism are explained in the context of a treatise on how genomes operate and evolve and how genes function to produce embryos and brains. Most of our most cherished human traits are the result of the emergence of new properties from preexisting genetically scripted ideas, offering countless opportunities to celebrate the evolutionary process.

The Wings Of Bombyx Mori Develop From Larval Discs Exhibiting An Early Differentiated State: A Preliminary Report, Madhuri Kango-Singh, Amit Singh, K. P. Gopinathan

Biology Faculty Publications

Lepidopteran insects present a complex organization of appendages which develop by various mechanisms. In the mulberry silkworm, Bombyx mori, a pair of meso- and meta-thoracic discs located on either side in the larvae gives rise to the corresponding fore- and hind-wings of the adult. These discs do not experience massive cell rearrangements during metamorphosis and display the adult wing vein pattern. We have analysed wing development in B. mori by two approaches, viz., expression of patterning genes in larval wing discs, and regulatory capacities of larval discs following explantation or perturbation. Expression of Nubbin is seen all over the presumptive …

Salivary Acinar Cells From Aquaporin 5-Deficient Mice Have Decreased Membrane Water Permeability And Altered Cell Volume Regulation, Carissa M. Krane, James E. Melvin, Ha-Van Nguyen, Linda Richardson, Jennifer E. Towne, Thomas Doetschman, Anil G. Menon

Biology Faculty Publications

Aquaporins (AQPs) are channel proteins that regulate the movement of water through the plasma membrane of secretory and absorptive cells in response to osmotic gradients. In the salivary gland, AQP5 is the major aquaporin expressed on the apical membrane of acinar cells. Previous studies have shown that the volume of saliva secreted by AQP5-deficient mice is decreased, indicating a role for AQP5 in saliva secretion; however, the mechanism by which AQP5 regulates water transport in salivary acinar cells remains to be determined. Here we show that the decreased salivary flow rate and increased tonicity of the saliva secreted byAqp5 …

Review Of "Illuminating Life: Selected Papers From Cold Spring Harbor (1903-1969). Volume 1" By J. Witkowski, John B. Jenkins

Biology Faculty Works

No abstract provided.

Aquaporin 5-Deficient Mouse Lungs Are Hyperresponsive To Cholinergic Stimulation, Carissa M. Krane, Christopher N. Fortner, Arthur R. Hand, Dennis W. Mcgraw, John N. Lorenz, Susan E. Wert, Jennifer E. Towne, Richard J. Paul, Jeffrey A. Whitsett, Anil G. Menon

Biology Faculty Publications

Although aquaporin 5 (AQP5) is the major water channel expressed in alveolar type I cells in the lung, its actual role in the lung is a matter of considerable speculation. By using immunohistochemical staining, we show that AQP5 expression in mouse lung is not restricted to type I cells, but is also detected in alveolar type II cells, and in tracheal and bronchial epithelium. Aqp5 knockout (Aqp5−/−) mice were used to analyze AQP5 function in pulmonary physiology. Compared with Aqp5+/+ mice, Aqp5−/− mice show a significantly increased concentration-dependent bronchoconstriction to intravenously administered Ach, as shown by …

Hawaiian Freshwater Polychaeta: A Potentially Substantial Trophic Component Of Stream Depositional Habitats, M. Eric Benbow, Albert J. Burky, Carl M. Way

Biology Faculty Publications

In this paper we report the widespread occurrence of large annelids (Polychaeta: Nereididae) in Hawaiian stream depositional habitats, drawing attention to the lack of knowledge of Hawaiian stream energetics. Specimens of Namalycastis sp. were collected from five Hawaiian Islands from May–July 1995 and from the island of Maui from July–December 1999 and April–July 2000. Most specimens collected were N. hawaiiensis, while two specimens of N. abiuma were collected from a single site on the island of Molokai. Specimens were collected from elevations ranging from 3–240 m; several collections were from sites above at least one major (> 15 m …

Cloning Of Hsds Gene And Characterization Of The Protein From Haemophilus Influenzae Rd, Srividya Chalapatti

Seton Hall University Dissertations and Theses (ETDs)

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The Occurrence Of The Freshwater Clams, Musculium Partumeium (Say) And Pisidium Casertanum (Poli) (Bivalvia: Sphaeriidae), In The Hawaiian Islands, Albert J. Burky, Carl M. Way, Skippy Hau, M. Eric Benbow

Biology Faculty Publications

Sphaeriid clams were collected from an ancient, continuously cultivated taro pond complex at Ke‘anae Peninsula, Maui. Both species are known for adaptations for temporary pond habitats and could have been initially introduced by the earliest Hawaiian settlers transported with moist taro root stock from other areas of Oceania.