Genetics Commons^™

Use Of Hidden Markov Models For Qtl Mapping, Karl W. Broman

Johns Hopkins University, Dept. of Biostatistics Working Papers

An important aspect of the QTL mapping problem is the treatment of missing genotype data. If complete genotype data were available, QTL mapping would reduce to the problem of model selection in linear regression. However, in the consideration of loci in the intervals between the available genetic markers, genotype data is inherently missing. Even at the typed genetic markers, genotype data is seldom complete, as a result of failures in the genotyping assays or for the sake of economy (for example, in the case of selective genotyping, where only individuals with extreme phenotypes are genotyped). We discuss the use of …

Review Of "Plant Exploration For Longwood Gardens" By T. Aniśko, Nicholas J. Kaplinsky

Biology Faculty Works

No abstract provided.

A Sex-Linked Allele, Autosomal Modifiers And Temperature-Dependence Appear To Regulate Melanism In Male Mosquitofish (Gambusia Holbrooki), Lisa Horth

Biological Sciences Faculty Publications

About 1% of male mosquitofish (Gambusia holbrooki) express melanic (mottled-black) body coloration, which differs dramatically from the wild-type, silvery-gray coloration. Here, I report on the genetic inheritance pattern of melanic coloration, which indicates Y-linkage, and at least one autosomal modifier. Phenotypic expression of melanism is also affected by temperature. Expression is constitutive ( temperature insensitive) in some populations, inducible ( temperature sensitive) in others. Constitutive and inducible expression occur among geographically proximal populations. However, males from any single population demonstrate the same constitutive or inducible expression pattern as one another. The F1 males from inter-population crosses demonstrate temperature-related …

Semiparametric Regression Of Multi-Dimensional Genetic Pathway Data: Least Squares Kernel Machines And Linear Mixed Models, Dawei Liu, Xihong Lin, Debashis Ghosh

Harvard University Biostatistics Working Paper Series

No abstract provided.

Limited Functional Redundancy And Oscillation Of Cyclins In Multinucleated Ashbya Gossypii Fungal Cells, A. Katrin Hungerbuehler, Peter Philippsen, Amy S. Gladfelter

Dartmouth Scholarship

Cyclin protein behavior has not been systematically investigated in multinucleated cells with asynchronous mitoses. Cyclins are canonical oscillating cell cycle proteins, but it is unclear how fluctuating protein gradients can be established in multinucleated cells where nuclei in different stages of the division cycle share the cytoplasm. Previous work in A. gossypii, a filamentous fungus in which nuclei divide asynchronously in a common cytoplasm, demonstrated that one G1 and one B-type cyclin do not fluctuate in abundance across the division cycle. We have undertaken a comprehensive analysis of all G1 and B-type cyclins in A. gossypii to determine whether …

The Fat Cadherin Acts Through The Hippo Tumor-Suppressor Pathway To Regulate Tissue Size, Maria Willecke, Fisun Hamaratoglu, Madhuri Kango-Singh, Ryan Udan, Chiao-Lin Chen, Chunyao Tao, Xinwei Zhang, Georg Halder

Biology Faculty Publications

Background: The Hippo tumor-suppressor pathway has emerged as a key signaling pathway that controls tissue size in Drosophila. Merlin, the Drosophila homolog of the human Neurofibromatosis type-2 (NF2) tumor-suppressor gene, and the related protein Expanded are the most upstream components of the Hippo pathway identified so far. However, components acting upstream of Expanded and Merlin, such as transmembrane receptors, have not yet been identified.

Results: Here, we report that the protocadherin Fat acts as an upstream component in the Hippo pathway. Fat is a known tumor-suppressor gene in Drosophila, and fat mutants have severely overgrown imaginal discs. We …

Lobe And Serrate Are Required For Cell Survival During Early Eye Development In Drosophila, Amit Singh, Xiao Shi, Kwang-Wook Choi

Biology Faculty Publications

Organogenesis involves an initial surge of cell proliferation, leading to differentiation. This is followed by cell death in order to remove extra cells. During early development, there is little or no cell death. However, there is a lack of information concerning the genes required for survival during the early cell-proliferation phase. Here, we show that Lobe (L) and the Notch (N) ligand Serrate (Ser), which are both involved in ventral eye growth, are required for cell survival in the early eye disc. We observed that the loss-of-ventral-eye phenotype in L or Ser mutants is due to …

The Allantois And Chorion, When Isolated Before Circulation Or Chorio-Allantoic Fusion, Have Hematopoietic Potential, Brandon M. Zeigler, Daisuke Sugiyama, Michael Chen, Yalin Guo, K. M. Downs, N. A. Speck

Dartmouth Scholarship

The chorio-allantoic placenta forms through the fusion of the allantois (progenitor tissue of the umbilical cord), with the chorionic plate. The murine placenta contains high levels of hematopoietic stem cells, and is therefore a stem cell niche. However, it is not known whether the placenta is a site of hematopoietic cell emergence, or whether hematopoietic cells originate from other sites in the conceptus and then colonize the placenta. Here, we show that the allantois and chorion, isolated prior to the establishment of circulation, have the potential to give rise to myeloid and definitive erythroid cells following explant culture. We further …

Distance-Based Genome Rearrangement Phylogeny, Li-San Wang, Tandy Warnow, Bernard M.E. Moret, Robert K. Jansen, Linda A. Raubeson

All Faculty Scholarship for the College of the Sciences

Evolution operates on whole genomes through direct rearrangements of genes, such as inversions, transpositions, and inverted transpositions, as well as through operations, such as duplications, losses, and transfers, that also affect the gene content of the genomes. Because these events are rare relative to nucleotide substitutions, gene order data offer the possibility of resolving ancient branches in the tree of life; the combination of gene order data with sequence data also has the potential to provide more robust phylogenetic reconstructions, since each can elucidate evolution at different time scales. Distance corrections greatly improve the accuracy of phylogeny reconstructions from DNA …

A Unifying Approach For Haplotype Analysis Of Quantitative Traits In Family-Based Association Studies: Testing And Estimating Gene-Environment Interactions With Complex Exposure Variables, Stijn Vansteelandt, Christoph Lange

COBRA Preprint Series

We propose robust and e±cient tests and estimators for gene-environment/gene-drug interactions in family-based association studies. The methodology is designed for studies in which haplotypes, quantitative pheno- types and complex exposure/treatment variables are analyzed. Using causal inference methodology, we derive family-based association tests and estimators for the genetic main effects and the interactions. The tests and estimators are robust against population admixture and strati¯cation without requiring adjustment for confounding variables. We illustrate the practical relevance of our approach by an application to a COPD study. The data analysis suggests a gene-environment interaction between a SNP in the Serpine gene and smok- …

Expression Of The Primary Carbohydrate Component Of The Bordetella Bronchiseptica Biofilm Matrix Is Dependent On Growth Phase But Independent Of Bvg Regulation, Yasuhiko Irie, Andrew Preston, Ming H. Yuk

Biology Faculty Publications

We previously showed that the Bvg virulence control system regulates biofilm formation in Bordetella bronchiseptica (Y. Irie, S. Mattoo, and M. H. Yuk, J. Bacteriol. 186:5692-5698, 2004). Analyses of the extracellular components of B. bronchiseptica biofilm matrix revealed that the major sugar component in the matrix was xylose, and linkage analysis indicated a majority of it to be in a 4-linked polymeric form. The production of xylose was independent of Bvg regulation but instead was dependent on bacterial growth phase. In addition, N-acetyl-glucosamine in the matrix was found to be important for the initial development of the biofilm. These …

Evaluating Genetic Viability Of Pronghorn In Wind Cave National Park, Jonathan A. Jenks, Christopher N. Jacques, Jaret D. Sievers, Robert W. Klaver, R. Terry Bowyer, Daniel E. Roddy

The Prairie Naturalist

The pronghorn (Antilocapra americana) was reintroduced into Wind Cave National Park, South Dakota, in 1914 and thus, has inhabited the Park for almost a century. A decline in the population has raised concern for the continued existence of pronghorn inside Wind Cave National Park. Historically, pronghorn numbers reached greater than 300 individuals in the 1960's but declined to about 30 individuals by 2002. The primary objective of our study was to evaluate genetic characteristics of pronghorn to determine if reduced heterozygosity contributed to the decline of pronghorn in Wind Cave National Park. Microsatellite DNA was collected from 75 …

Structural Inference In Transition Measurement Error Models For Longitudinal Data, Wenqin Pan, Xihong Lin, Donglin Zeng

Harvard University Biostatistics Working Paper Series

No abstract provided.

Nonparametric Regression Using Local Kernel Estimating Equations For Correlated Failure Time Data, Zhangsheng Yu, Xihong Lin

Harvard University Biostatistics Working Paper Series

No abstract provided.

Causal Inference In Hybrid Intervention Trials Involving Treatment Choice, Qi Long, Rod Little, Xihong Lin

Harvard University Biostatistics Working Paper Series

No abstract provided.

A Comparison Of Methods For Estimating The Causal Effect Of A Treatment In Randomized Clinical Trials Subject To Noncompliance, Rod Little, Qi Long, Xihong Lin

Harvard University Biostatistics Working Paper Series

No abstract provided.

Chironomid Hemoglobin Genetic Diversity As An Indicator Of The New Jersey Hackensack Meadowlands Wetland Health, Lene Marie De Coursin Jacobs

Seton Hall University Dissertations and Theses (ETDs)

Kearny Marsh located within the Hackensack Meadowlands is a freshwater wetland impacted by multiple environmental stressors from human activity. The marsh is located in the northeastern New Jersey metropolitan area. Chironomid larvae, aquatic larvae of midge fly, were analyzed from two Kearny Marsh sample sites, W9 and W22. A previous sediment analysis and toxicity study characterized heavy metal contaminants the marsh. The data results were applied in this thesis study to determine the correlation between environmental stressors and chironomid genetic diversity. Site W9 sediment was impacted by severe levels of total heavy metal contamination, whereas site W22 had just below …

A Subset Of Arabidopsis Ap2 Transcription Factors Mediates Cytokinin Responses In Concert With A Two-Component Pathway, Aaron M. Rashotte, Michael G. Mason, Claire E. Hutchison, Fernando J. Ferreira, G. Eric Schaller, Joseph J. Kieber

Dartmouth Scholarship

The plant hormone cytokinin regulates numerous growth and developmental processes. A signal transduction pathway for cytokinin has been elucidated that is similar to bacterial two-component phosphorelays. In Arabidopsis, this pathway is comprised of receptors that are similar to sensor histidine kinases, histidine-containing phosphotransfer proteins, and response regulators (ARRs). There are two classes of response regulators, the type-A ARRs, which act as negative regulators of cytokinin responses, and the type-B ARRs, which are transcription factors that play a positive role in mediating cytokinin-regulated gene expression. Here we show that several closely related members of the Arabidopsis AP2 gene family of …

Sheep Updates 2006 - Part 2, Darryl Smith, Kathryn Kemper, David Rutley, R. R. Woolaston, D. J. Brown, K. D. Atkins, A. E. Casey, A. J. Ball, David Hopkins, David Stanley, Leonie Martin, Arthur Gilmour, Remy Van De Ven, Geoff Duddy, Steve Semple, David Kessell, Andrew Thompson

Sheep Updates

This session covers six papers from different authors:

GENETICS

1. Novel selection traits - what are the possible side effects?, Darryl Smith, Kathryn Kemper, South Australian Research and Development Institute, David Rutley, University of Adelaide.

2. Genetic Changes in the Australian Merino since 1900, Sheep Genetics Australia Technical Committee, R.R. Woolaston Pullenvale, Queensland, D.J. Brown, Animal Genetics and Breeding Unit*, University of New England, K.D. Atkins, A.E. Casey, NSW Department of Primary Industries, A.J. Ball, Meat and Livestock Australia, University of New England

3. Influence of Sire Growth Estimated Breeding Value (EBV0 on Progeny Growth, David Hopkins, David Stanley, Leonie …

Coordinated Diabrotica Genetics Research: Accelerating Progress On An Urgent Insect Pest Problem, Thomas W. Sappington, Blair D. Siegfried, Thomas Guillemaud

Department of Entomology: Faculty Publications

Diabrotica spp. (western, northern, and Mexican corn rootworms) represent the main pest complex of continuous field corn, Zea mays (L.), in North America. The western corn rootworm, Diabrotica virgifera virgifera LeConte, also has become the main pest of continuous corn in Central and Southeastern Europe since its introduction near Belgrade 15–20 years ago, and it represents a major risk to Western Europe. It has already caused economic losses in Eastern Europe, and Western countries such as France have committed large expenditures for containment and/or eradication.

Rootworm larvae feed on corn roots, and damaged plants are more susceptible to drought and …

Saccharomyces Cerevisiae-Based Molecular Tool Kit For Manipulation Of Genes From Gram-Negative Bacteria, Robert M. Q. Shanks, Nicky C. Caiazza, Shannon M. Hinsa, Christine M. Toutain, George A. O'Toole

Dartmouth Scholarship

A tool kit of vectors was designed to manipulate and express genes from a wide range of gram-negative species by using in vivo recombination. Saccharomyces cerevisiae can use its native recombination proteins to combine several amplicons in a single transformation step with high efficiency. We show that this technology is particularly useful for vector design. Shuttle, suicide, and expression vectors useful in a diverse group of bacteria are described and utilized. This report describes the use of these vectors to mutate clpX and clpP of the opportunistic pathogen Pseudomonas aeruginosa and to explore their roles in biofilm formation and surface …

A Faster Circular Binary Segmentation Algorithm For The Analysis Of Array Cgh Data, E S. Venkatraman, Adam Olshen

Memorial Sloan-Kettering Cancer Center, Dept. of Epidemiology & Biostatistics Working Paper Series

Motivation: Array CGH technologies enable the simultaneous measurement of DNA copy number for thousands of sites on a genome. We developed the circular binary segmentation (CBS) algorithm to divide the genome into regions of equal copy number (Olshen {\it et~al}, 2004). The algorithm tests for change-points using a maximal $t$-statistic with a permutation reference distribution to obtain the corresponding $p$-value. The number of computations required for the maximal test statistic is $O(N^2),$ where $N$ is the number of markers. This makes the full permutation approach computationally prohibitive for the newer arrays that contain tens of thousands markers and highlights the …

Effects Of Ultraviolet-B Radiation On Leaf Morphology Of Arabidopsis Thaliana (L.) Heynh. (Brassicaceae), Maria Regina Torres Boeger, Mary E. Poulson

Biology Faculty Scholarship

Reduction of the ozone layer results in the increase in ultraviolet radiation reaching the earth's surface, especially the ultraviolet-B (UV-B). The increase of radiation may induce structural and physiological changes in plants, influencing their growth and development. This paper evaluates the effects of ambient UV-B radiation upon to the leaf morphology of Arabidopsis thaliana developed under controlled conditions. The seeds of A. thaliana grown in environmental chamber, with 300 µmol m^-2s^-1 de photosynthetically active radiation (PAR) with and without 6 kJ m^-2 s^-1 of radiation UV-B_be (UV-B_be; UV-B biologically effective). After 21 …

Bounded Search For De Novo Identification Of Degenerate Cis-Regulatory Elements, Jonathan M. Carlson, Arijit Chakravarty, Radhika S. Khetani, Robert H. Gross

Dartmouth Scholarship

The identification of statistically overrepresented sequences in the upstream regions of coregulated genes should theoretically permit the identification of potential cis-regulatory elements. However, in practice many cis-regulatory elements are highly degenerate, precluding the use of an exhaustive word-counting strategy for their identification. While numerous methods exist for inferring base distributions using a position weight matrix, recent studies suggest that the independence assumptions inherent in the model, as well as the inability to reach a global optimum, limit this approach.

Cloning And Overexpression Of Imp/Osta, An Essential Escherichia Coli Outer Membrane Protein With A Possible Role In Lipid Transport, Leslie Lekatz

Honors Capstones

Capstone submitted as a graduation requirement for the BSU Honors Program.

Analysis Of Distal-Less Gene Expression In Ciona Intestinalis, Michelle Cangiano

Senior Honors Projects

Several homeobox-containing genes related to Distal-less (Dlx/Dll) have been isolated from a wide variety of organisms and have been shown to function as developmental regulators. In Drosophila only one Distal-less gene has been identified so far, and in vertebrates many components of the Distal-less family have been characterized. This suggests that, during the evolution of the Chordate phylum, the Dlx genes arose from an ancestral Distal-less gene via gene duplication. Three Dll homeoboxes have been isolated from the protochordate Ciona intestinalis and their clustered arrangement has been described. Since Ciona is regarded as one of the most primitive extant chordates, …

Evaluation Of Toxicity Following Electrically Mediated Interleukin-12 Gene Delivery In A B16 Mouse Melanoma Model, Loree Heller, Kathleen Merkler, Jeffrey Westover, Yolmari Cruz, Domenico Coppola, Kaaron Benson, Adil Daud, Richard Heller

Bioelectrics Publications

PURPOSE: Interleukin-12 (IL-12) has potential as an immunotherapeutic agent for the treatment of cancer but is unfortunately associated with toxicity. Delivery of a plasmid encoding IL-12 with electroporation induces an antitumor effect in the B16 mouse melanoma model without serious side effects. To translate this observation to the clinic, an evaluation of toxicity was done in the mouse model.

EXPERIMENTAL DESIGN: Weight change, tumor response, blood chemistry and hematology values, and serum IL-12 levels were evaluated. Multiple tissues were analyzed histopathologically.

RESULTS: A pronounced reduction in tumor volume, including a large percentage of complete regressions, was observed after electrically mediated …

A Role For Cetp Taqib Polymorphism In Determining Susceptibility To Atrial Fibrillation: A Nested Case Control Study, Folkert W. Asselbergs, Jason H. Moore, Maarten P. Van Den Berg, Eric B. Rimm

Dartmouth Scholarship

Studies investigating the genetic and environmental characteristics of atrial fibrillation (AF) may provide new insights in the complex development of AF. We aimed to investigate the association between several environmental factors and loci of candidate genes, which might be related to the presence of AF. A nested case-control study within the PREVEND cohort was conducted. Standard 12 lead electrocardiograms were recorded and AF was defined according to Minnesota codes. For every case, an age and gender matched control was selected from the same population (n = 194). In addition to logistic regression analyses, the multifactor-dimensionality reduction (MDR) method and interaction …

Ewe And Wether Trials - Tools For Benchmarking Your Sheep Genetics, Lock Butler

Bulletins 4000 -

Research and sheep productivity trial results demonstrate a huge variability in genetic productivity between flocks. For example a range of up to 2 kg clean fleece weight, 5 microns, 55 percentage points in lambing percentage and 20 kg live weight, can lead to big differences in gross margin between flocks.

There is an opportunity for genetic improvement, depending on your current ram source or sires performance. For example, Western Australian (WA) Wether Trial results suggest half the WA flocks could improve clean fleece weight per head by half a kilogram or more. The trial results suggest that this could occur …

Examination Of The Ace And Actn3 Genes In Utc Varsity Athletes And Sedentary Students, Ian Mayne

Honors Theses

Growing evidence suggests that genetic variants of certain genes are linked to athletic performance. This study presents a comparative analysis of genetic variation of the ACE and ACTN3 genes in varsity athletes (n=90) and sedentary students (n=48) at the University of Tennessee at Chattanooga. The ACE gene codes for the Angiotensin Converting Enzyme (ACE), which is an integral part of the Renin-Angiotensin system. It is responsible for regulating blood volume,arterial pressure, electrolyte balance, and cardiac and vascular function.Polymorphisms of the ACE gene effect serum and tissue levels of the enzyme, and are genetically distinguished by either an insertion (I-allele) or …