FUNCTIONAL IMPLICATION OF MAJOR HISTOCOMPATIBILITY (MH) VARIATION USING AN ESTUARINE FISH POPULATION

EPA Science Inventory

Recently, there has been a dramatic expansion of studies of major histocompatibility complex (MHC) variation aimed at discovering functional differences in immunity across wild populations of diverse vertebrate species. Some species with relatively low genetic diversity or under ...

Mining sequence variations in representative polyploid sugarcane germplasm accessions

DOE Office of Scientific and Technical Information (OSTI.GOV)

Yang, Xiping; Song, Jian; You, Qian

Sugarcane (Saccharum spp.) is one of the most important economic crops because of its high sugar production and biofuel potential. Due to the high polyploid level and complex genome of sugarcane, it has been a huge challenge to investigate genomic sequence variations, which are critical for identifying alleles contributing to important agronomic traits. In order to mine the genetic variations in sugarcane, genotyping by sequencing (GBS), was used to genotype 14 representative Saccharum complex accessions. GBS is a method to generate a large number of markers, enabled by next generation sequencing (NGS) and the genome complexity reduction using restriction enzymes.more » To use GBS for high throughput genotyping highly polyploid sugarcane, the GBS analysis pipelines in 14 Saccharum complex accessions were established by evaluating different alignment methods, sequence variants callers, and sequence depth for single nucleotide polymorphism (SNP) filtering. By using the established pipeline, a total of 76,251 non-redundant SNPs, 5642 InDels, 6380 presence/absence variants (PAVs), and 826 copy number variations (CNVs) were detected among the 14 accessions. In addition, non-reference based universal network enabled analysis kit and Stacks de novo called 34,353 and 109,043 SNPs, respectively. In the 14 accessions, the percentages of single dose SNPs ranged from 38.3% to 62.3% with an average of 49.6%, much more than the portions of multiple dosage SNPs. Concordantly called SNPs were used to evaluate the phylogenetic relationship among the 14 accessions. The results showed that the divergence time between the Erianthus genus and the Saccharum genus was more than 10 million years ago (MYA). The Saccharum species separated from their common ancestors ranging from 0.19 to 1.65 MYA. The GBS pipelines including the reference sequences, alignment methods, sequence variant callers, and sequence depth were recommended and discussed for the Saccharum complex and other related species. A large number of sequence variations were discovered in the Saccharum complex, including SNPs, InDels, PAVs, and CNVs. Genome-wide SNPs were further used to illustrate sequence features of polyploid species and demonstrated the divergence of different species in the Saccharum complex. The results of this study showed that GBS was an effective NGS-based method to discover genomic sequence variations in highly polyploid and heterozygous species.« less

Mining sequence variations in representative polyploid sugarcane germplasm accessions

DOE PAGES

Yang, Xiping; Song, Jian; You, Qian; ...

2017-08-09

Sugarcane (Saccharum spp.) is one of the most important economic crops because of its high sugar production and biofuel potential. Due to the high polyploid level and complex genome of sugarcane, it has been a huge challenge to investigate genomic sequence variations, which are critical for identifying alleles contributing to important agronomic traits. In order to mine the genetic variations in sugarcane, genotyping by sequencing (GBS), was used to genotype 14 representative Saccharum complex accessions. GBS is a method to generate a large number of markers, enabled by next generation sequencing (NGS) and the genome complexity reduction using restriction enzymes.more » To use GBS for high throughput genotyping highly polyploid sugarcane, the GBS analysis pipelines in 14 Saccharum complex accessions were established by evaluating different alignment methods, sequence variants callers, and sequence depth for single nucleotide polymorphism (SNP) filtering. By using the established pipeline, a total of 76,251 non-redundant SNPs, 5642 InDels, 6380 presence/absence variants (PAVs), and 826 copy number variations (CNVs) were detected among the 14 accessions. In addition, non-reference based universal network enabled analysis kit and Stacks de novo called 34,353 and 109,043 SNPs, respectively. In the 14 accessions, the percentages of single dose SNPs ranged from 38.3% to 62.3% with an average of 49.6%, much more than the portions of multiple dosage SNPs. Concordantly called SNPs were used to evaluate the phylogenetic relationship among the 14 accessions. The results showed that the divergence time between the Erianthus genus and the Saccharum genus was more than 10 million years ago (MYA). The Saccharum species separated from their common ancestors ranging from 0.19 to 1.65 MYA. The GBS pipelines including the reference sequences, alignment methods, sequence variant callers, and sequence depth were recommended and discussed for the Saccharum complex and other related species. A large number of sequence variations were discovered in the Saccharum complex, including SNPs, InDels, PAVs, and CNVs. Genome-wide SNPs were further used to illustrate sequence features of polyploid species and demonstrated the divergence of different species in the Saccharum complex. The results of this study showed that GBS was an effective NGS-based method to discover genomic sequence variations in highly polyploid and heterozygous species.« less

Dante's Comedy: precursors of psychoanalytic technique and psyche.

PubMed

Szajnberg, Nathan Moses

2010-02-01

This paper uses a literary approach to explore what common ground exists in both psychoanalytic technique and views of the psyche, of 'person'. While Western literature has developed various views of psyche and person over centuries, there have been crystallizing, seminal portraits, for instance Shakespeare's perspective on what is human, some of which have endured to the present. By using Dante's Commedia, particularly the Inferno, a 14th century poem that both integrates and revises previous models of psyche and personhood, we can examine what features of psyche, and 'techniques' in soul-healing psychoanalysts have inherited culturally. Discovering basic features of technique and model of psyche we share as psychoanalysts permits us to explore why we have differences in variations on technique and models of inner life.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sandhaus, Phoebe H.; Debes, John H.; Ely, Justin

The search for transiting habitable exoplanets has broadened to include several types of stars that are smaller than the Sun in an attempt to increase the observed transit depth and hence the atmospheric signal of the planet. Of all spectral types, white dwarfs (WDs) are the most favorable for this type of investigation. The fraction of WDs that possess close-in rocky planets is unknown, but several large angle stellar surveys have the photometric precision and cadence to discover at least one if they are common. Ultraviolet observations of WDs may allow for detection of molecular oxygen or ozone in themore » atmosphere of a terrestrial planet. We use archival Hubble Space Telescope data from the Cosmic Origins Spectrograph to search for transiting rocky planets around UV-bright WDs. In the process, we discovered unusual variability in the pulsating WD GD 133, which shows slow sinusoidal variations in the UV. While we detect no planets around our small sample of targets, we do place stringent limits on the possibility of transiting planets, down to sub-lunar radii. We also point out that non-transiting small planets in thermal equilibrium are detectable around hotter WDs through infrared excesses, and identify two candidates.« less

Genetic Variation Linked to Lung Cancer Survival in White Smokers | Center for Cancer Research

Cancer.gov

CCR investigators have discovered evidence that links lung cancer survival with genetic variations (called single nucleotide polymorphisms) in the MBL2 gene, a key player in innate immunity. The variations in the gene, which codes for a protein called the mannose-binding lectin, occur in its promoter region, where the RNA polymerase molecule binds to start transcription, and

The Marine Biogeochemistry of Zinc Isotopes

DTIC Science & Technology

2007-06-01

hydrothermal fluids and minerals, cultured marine phytoplankton, natural plankton, and seawater. By measuring Zn isotopes in a diverse array of...variations were discovered in hydrothermal fluids and minerals, with hydrothermal fluids ranging in 6 66Zn from 0.02 %o to +0.93 %o, and chimney minerals...drives much of the Zn isotope fractionation in hydrothermal systems. In cultured diatoms, a relationship was discovered between Zn transport by

Assessing Socioeconomic Impacts of Cascading Infrastructure Disruptions in a Dynamic Human-Infrastructure Network

DTIC Science & Technology

2016-07-01

CAC common access card DoD Department of Defense FOUO For Official Use Only GIS geographic information systems GUI graphical user interface HISA...as per requirements of this project, is UNCLASS/For Official Use Only (FOUO), with access re- stricted to DOD common access card (CAC) users. Key...Boko Haram Fuel Dump Discovered in Maiduguru.” Available: http://saharareporters.com/2015/10/01/another-boko-haram-fuel- dump - discovered-maiduguri

Latino Definitions of Success: A Cultural Model of Intercultural Competence

PubMed Central

Torres, Lucas

2010-01-01

The present study sought to examine Latino intercultural competence via two separate methodologies. Phase 1 entailed discovering and generating themes regarding the features of intercultural competence based on semistructured interviews of 15 Latino adults. Phase 2 included conducting a cultural consensus analysis from the quantitative responses of 46 Latino adults to determine the cultural model of intercultural competence. The major results indicated that the participants, despite variations in socioeconomic and generational statuses, shared a common knowledge base regarding the competencies needed for Latinos to successfully navigate different cultures. Overall, the cultural model of Latino intercultural competence includes a set of skills that integrates traditional cultural values along with attributes of self-efficacy. The findings are discussed within a competence-based conceptualization of cultural adaptation and potential advancements in acculturation research. PMID:20333325

Longitudinal Variations in the Variability of Spread F Occurrence

NASA Astrophysics Data System (ADS)

Groves, K. M.; Bridgwood, C.; Carrano, C. S.

2017-12-01

The complex dynamics of the equatorial ionosphere have attracted the interest and attention of researchers for many decades. The relatively local processes that give rise to large meridional gradients have been well documented and the associated terminology has entered the common lexicon of ionospheric research (e.g., fountain effect, equatorial anomaly, bubbles, Spread F). Zonal variations have also been noted, principally at the level of determining longitudinal differences in seasonal activity patterns. Due to a historical lack of high resolution ground-based observations at low latitudes, the primary source of data for such analyses has been space-based observations from satellites such as ROCSAT, DMSP, C/NOFS that measure in situ electron density variations. An important longitudinal variation in electron density structure associated with non-migrating diurnal tides was discovered by Immel et al. in 2006 using data from the FUV sensor aboard the NASA IMAGE satellite. These satellite observations have been very helpful in identifying the structural characteristics of the equatorial ionosphere and the occurrence of Spread F, but they provide little insight into variations in scintillation features and potential differences in bubble development characteristics. Moreover space-based studies tend towards the statistics of occurrence frequency over periods of weeks to months. A recent analysis of daily spread F occurrence as determined by low latitude VHF scintillation activity shows that statistical results that are consistent with previous space-based observations, but the level of variability in the occurrence data show marked variations with longitude. For example, the American sector shows very low in-season variability while the African and Asian sectors exhibit true day-to-day variability regardless of seasonal variations. The results have significant implications for space weather as they suggest that long-term forecasts of equatorial scintillation may be meaningful within specific longitude boundaries.

Genome-wide interactions with dairy intake for body mass index in adults of European descent

USDA-ARS?s Scientific Manuscript database

Body weight responds variably to the intake of dairy foods. Genetic variation may contribute to inter-individual variability in associations between body weight and dairy consumption. We conducted a genome-wide interaction study to discover genetic variants that account for variation in BMI in the c...

DOE Office of Scientific and Technical Information (OSTI.GOV)

Fahrenkrog, Annette M.; Neves, Leandro G.; Resende, Jr., Marcio F. R.

Genome-wide association studies (GWAS) have been used extensively to dissect the genetic regulation of complex traits in plants. These studies have focused largely on the analysis of common genetic variants despite the abundance of rare polymorphisms in several species, and their potential role in trait variation. Here, we conducted the first GWAS in Populus deltoides, a genetically diverse keystone forest species in North America and an important short rotation woody crop for the bioenergy industry. We searched for associations between eight growth and wood composition traits, and common and low-frequency single-nucleotide polymorphisms detected by targeted resequencing of 18 153 genesmore » in a population of 391 unrelated individuals. To increase power to detect associations with low-frequency variants, multiple-marker association tests were used in combination with single-marker association tests. Significant associations were discovered for all phenotypes and are indicative that low-frequency polymorphisms contribute to phenotypic variance of several bioenergy traits. Our results suggest that both common and low-frequency variants need to be considered for a comprehensive understanding of the genetic regulation of complex traits, particularly in species that carry large numbers of rare polymorphisms. Lastly, these polymorphisms may be critical for the development of specialized plant feedstocks for bioenergy.« less

The ethology of empathy: a taxonomy of real-world targets of need and their effect on observers

PubMed Central

Preston, Stephanie D.; Hofelich, Alicia J.; Stansfield, R. Brent

2013-01-01

Empathy is inherently interpersonal, but the majority of research has only examined observers. Targets of need have been largely held constant through hypothetical and fictionalized depictions of sympathetic distress and need. In the real world, people's response to life stressors varies widely—from stoicism to resilience to complete breakdown—variations that should profoundly influence the prosocial exchange. The current study examined naturally-varying affect in real hospital patients with serious chronic or terminal illness during videotaped interviews about quality of life. Participants viewed each video while psychophysiological data were recorded and then rated each patient's and their own emotion. Patients displayed three major emotion factors (disturbed, softhearted, and amused) that were used to classify them into five basic types (distraught, resilient, sanguine, reticent, wistful). These types elicited four major emotions in observers [personal distress (PD), empathic concern (EC), horror, pleasure], two of which were never discovered previously with fictionalized targets. Across studies and measures, distraught targets usually received the greatest aid, but approximately as many observers preferred the positive and likeable resilient patients or the quietly sad wistful targets, with multiple observers even giving their greatest aid to sanguine or reticent targets who did not display distress or need. Trait empathy motivated aid toward more emotive targets while perspective taking (PT) motivated aid for those who did not overtly display distress. A second study replicated key results without even providing the content of patients' speech. Through an ecological examination of real need we discovered variation and commonality in the emotional response to need that interacts strongly with the preferences of observers. Social interactions need to be studied in ethological contexts that retain the complex interplay between senders and receivers. PMID:23986680

Phylogenetic fragrance patterns in Nicotiana sections Alatae and Suaveolentes.

PubMed

Raguso, Robert A; Schlumpberger, Boris O; Kaczorowski, Rainee L; Holtsford, Timothy P

2006-09-01

We analyzed floral volatiles from eight tobacco species (Nicotiana; Solanaceae) including newly discovered Brazilian taxa (Nicotiana mutabilis and "Rastroensis") in section Alatae. Eighty-four compounds were found, including mono- and sesquiterpenoids, nitrogenous compounds, benzenoid and aliphatic alcohols, aldehydes and esters. Floral scent from recent accessions of Nicotiana alata, Nicotiana bonariensis and Nicotiana langsdorffii differed from previously published data, suggesting intraspecific variation in scent composition at the level of biosynthetic class. Newly discovered taxa in Alatae, like their relatives, emit large amounts of 1,8-cineole and smaller amounts of monoterpenes on a nocturnal rhythm, constituting a chemical synapomorphy for this lineage. Fragrance data from three species of Nicotiana sect. Suaveolentes, the sister group of Alatae, (two Australian species: N. cavicola, N. ingulba; one African species: N. africana), were compared to previously reported data from their close relative, N. suaveolens. Like N. suaveolens, N. cavicola and N. ingulba emit fragrances dominated by benzenoids and phenylpropanoids, whereas the flowers of N. africana lacked a distinct floral scent and instead emitted only small amounts of an aliphatic methyl ester from foliage. Interestingly, this ester also is emitted from foliage of N. longiflora and N. plumbaginifolia (both in section Alatae s.l.), which share a common ancestor with N. africana. This result, combined with the synapomorphic pattern of 1,8 cineole emission in Alatae s.s., suggests that phylogenetic signal explains a major component of fragrance composition among tobacco species in sections Alatae and Suaveolentes. At the intraspecific level, interpopulational scent variation is widespread in sect. Alatae, and may reflect edaphic specialization, introgression, local pollinator shifts, genetic drift or artificial selection in cultivation. Further studies with genetically and geographically well-defined populations are needed to distinguish between these possibilities.

The ethology of empathy: a taxonomy of real-world targets of need and their effect on observers.

PubMed

Preston, Stephanie D; Hofelich, Alicia J; Stansfield, R Brent

2013-01-01

Empathy is inherently interpersonal, but the majority of research has only examined observers. Targets of need have been largely held constant through hypothetical and fictionalized depictions of sympathetic distress and need. In the real world, people's response to life stressors varies widely-from stoicism to resilience to complete breakdown-variations that should profoundly influence the prosocial exchange. The current study examined naturally-varying affect in real hospital patients with serious chronic or terminal illness during videotaped interviews about quality of life. Participants viewed each video while psychophysiological data were recorded and then rated each patient's and their own emotion. Patients displayed three major emotion factors (disturbed, softhearted, and amused) that were used to classify them into five basic types (distraught, resilient, sanguine, reticent, wistful). These types elicited four major emotions in observers [personal distress (PD), empathic concern (EC), horror, pleasure], two of which were never discovered previously with fictionalized targets. Across studies and measures, distraught targets usually received the greatest aid, but approximately as many observers preferred the positive and likeable resilient patients or the quietly sad wistful targets, with multiple observers even giving their greatest aid to sanguine or reticent targets who did not display distress or need. Trait empathy motivated aid toward more emotive targets while perspective taking (PT) motivated aid for those who did not overtly display distress. A second study replicated key results without even providing the content of patients' speech. Through an ecological examination of real need we discovered variation and commonality in the emotional response to need that interacts strongly with the preferences of observers. Social interactions need to be studied in ethological contexts that retain the complex interplay between senders and receivers.

Evaluating and Improving Metadata for Data Use and Understanding

NASA Astrophysics Data System (ADS)

Habermann, T.

2013-12-01

The last several decades have seen an extraordinary increase in the number and breadth of environmental data available to the scientific community and the general public. These increases have focused the environmental data community on creating metadata for discovering data and on the creation and population of catalogs and portals for facilitating discovery. This focus is reflected in the fields required by commonly used metadata standards and has resulted in collections populated with metadata that meet, but don't go far beyond, minimal discovery requirements. Discovery is the first step towards addressing scientific questions using data. As more data are discovered and accessed, users need metadata that 1) automates use and integration of these data in tools and 2) facilitates understanding the data when it is compared to similar datasets or as internal variations are observed. When data discovery is the primary goal, it is important to create records for as many datasets as possible. The content of these records is controlled by minimum requirements, and evaluation is generally limited to testing for required fields and counting records. As the use and understanding needs become more important, more comprehensive evaluation tools are needed. An approach is described for evaluating existing metadata in the light of these new requirements and for improving the metadata to meet them.

Discovering Condition-Specific Gene Co-Expression Patterns Using Gaussian Mixture Models: A Cancer Case Study.

PubMed

Ficklin, Stephen P; Dunwoodie, Leland J; Poehlman, William L; Watson, Christopher; Roche, Kimberly E; Feltus, F Alex

2017-08-17

A gene co-expression network (GCN) describes associations between genes and points to genetic coordination of biochemical pathways. However, genetic correlations in a GCN are only detectable if they are present in the sampled conditions. With the increasing quantity of gene expression samples available in public repositories, there is greater potential for discovery of genetic correlations from a variety of biologically interesting conditions. However, even if gene correlations are present, their discovery can be masked by noise. Noise is introduced from natural variation (intrinsic and extrinsic), systematic variation (caused by sample measurement protocols and instruments), and algorithmic and statistical variation created by selection of data processing tools. A variety of published studies, approaches and methods attempt to address each of these contributions of variation to reduce noise. Here we describe an approach using Gaussian Mixture Models (GMMs) to address natural extrinsic (condition-specific) variation during network construction from mixed input conditions. To demonstrate utility, we build and analyze a condition-annotated GCN from a compendium of 2,016 mixed gene expression data sets from five tumor subtypes obtained from The Cancer Genome Atlas. Our results show that GMMs help discover tumor subtype specific gene co-expression patterns (modules) that are significantly enriched for clinical attributes.

Functional implications of Major Histocompatibility (MH) variation using estuarine fish populations.

PubMed

Cohen, Sarah; Tirindelli, Joëlle; Gomez-Chiarri, Marta; Nacci, Diane

2006-12-01

Recently, there has been a dramatic expansion of studies of major histocompatibility complex (MHC) variation aimed at discovering functional differences in immunity across wild populations of diverse vertebrate species. Some species with relatively low genetic diversity or under strong directional selection by pathogens have revealed fascinating cases of MHC allelic disease linkage. More generally in genetically diverse species, however, these linkages may be hard to find. In this paper, we review approaches for assessing functional variation in MHC and discuss their potential use for discovering smaller-scale intraspecific spatial and temporal patterns of MHC variation. Then, we describe and illustrate an approach using the structural model to produce a population composite of variation in antigen-binding regions by mapping population-specific substitutions onto functional regions of the molecule. We are producing models of variation in major histocompatibility (MH) loci for populations of non-migratory fish (killifish, Fundulus heteroclitus) resident at sites that vary dramatically in environmental quality. We discuss the goal of relating MH population variation to functional differences in disease susceptibility such as those inferred by observations of parasitic infection and direct measurement of bacterial challenges in the laboratory. Our study has focused on relatively well-studied killifish populations, including those resident in a highly disturbed, chemically contaminated estuary and nearby less contaminated sites. Population-specific genetic changes at MHC antigen-binding loci are described, and evidence relevant to functional implications of these changes is reviewed. Population-specific patterns of variation in antigen-binding regions in combination with a range of assessments of immune function will provide a powerful new approach to reveal functional changes in MHC.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

PubMed

Solomon, Benjamin D; Bear, Kelly A; Wyllie, Adrian; Keaton, Amelia A; Dubourg, Christele; David, Veronique; Mercier, Sandra; Odent, Sylvie; Hehr, Ute; Paulussen, Aimee; Clegg, Nancy J; Delgado, Mauricio R; Bale, Sherri J; Lacbawan, Felicitas; Ardinger, Holly H; Aylsworth, Arthur S; Bhengu, Ntombenhle Louisa; Braddock, Stephen; Brookhyser, Karen; Burton, Barbara; Gaspar, Harald; Grix, Art; Horovitz, Dafne; Kanetzke, Erin; Kayserili, Hulya; Lev, Dorit; Nikkel, Sarah M; Norton, Mary; Roberts, Richard; Saal, Howard; Schaefer, G B; Schneider, Adele; Smith, Erika K; Sowry, Ellen; Spence, M Anne; Shalev, Stavit A; Steiner, Carlos E; Thompson, Elizabeth M; Winder, Thomas L; Balog, Joan Z; Hadley, Donald W; Zhou, Nan; Pineda-Alvarez, Daniel E; Roessler, Erich; Muenke, Maximilian

2012-07-01

Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of non-chromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences. To characterise genetic and clinical findings in individuals with SHH mutations. Through the National Institutes of Health and collaborating centres, DNA from approximately 2000 individuals with HPE spectrum disorders were analysed for SHH variations. Clinical details were examined and combined with published cases. This study describes 396 individuals, representing 157 unrelated kindreds, with SHH mutations; 141 (36%) have not been previously reported. SHH mutations more commonly resulted in non-HPE (64%) than frank HPE (36%), and non-HPE was significantly more common in patients with SHH than in those with mutations in the other common HPE related genes (p<0.0001 compared to ZIC2 or SIX3). Individuals with truncating mutations were significantly more likely to have frank HPE than those with non-truncating mutations (49% vs 35%, respectively; p=0.012). While mutations were significantly more common in the N-terminus than in the C-terminus (including accounting for the relative size of the coding regions, p=0.00010), no specific genotype-phenotype correlations could be established regarding mutation location. SHH mutations overall result in milder disease than mutations in other common HPE related genes. HPE is more frequent in individuals with truncating mutations, but clinical predictions at the individual level remain elusive.

GK Dra: a delta Scuti Star in a New Eclipsing System Discovered by Hipparcos

NASA Astrophysics Data System (ADS)

Dallaporta, Sergio; Tomov, Toma; Zwitter, Tomaz; Munari, Ulisse

2002-09-01

GK Dra has been discovered by the Hipparcos mission as a 17 days eclipsing binary. We present here the first ground-based study of this star, based on extensive BV photoelectric photometry. We found a period of 9.974 days, equal depth primary and secondary eclipse (m=0.35 mag), no color variation in eclipse, and one of the components being a Sct star with an amplitude of 0.04 mag and a period of about 2.7 hours.

Genome-wide association study reveals putative regulators of bioenergy traits in Populus deltoides

DOE PAGES

Fahrenkrog, Annette M.; Neves, Leandro G.; Resende, Jr., Marcio F. R.; ...

2016-09-06

Genome-wide association studies (GWAS) have been used extensively to dissect the genetic regulation of complex traits in plants. These studies have focused largely on the analysis of common genetic variants despite the abundance of rare polymorphisms in several species, and their potential role in trait variation. Here, we conducted the first GWAS in Populus deltoides, a genetically diverse keystone forest species in North America and an important short rotation woody crop for the bioenergy industry. We searched for associations between eight growth and wood composition traits, and common and low-frequency single-nucleotide polymorphisms detected by targeted resequencing of 18 153 genesmore » in a population of 391 unrelated individuals. To increase power to detect associations with low-frequency variants, multiple-marker association tests were used in combination with single-marker association tests. Significant associations were discovered for all phenotypes and are indicative that low-frequency polymorphisms contribute to phenotypic variance of several bioenergy traits. Our results suggest that both common and low-frequency variants need to be considered for a comprehensive understanding of the genetic regulation of complex traits, particularly in species that carry large numbers of rare polymorphisms. Lastly, these polymorphisms may be critical for the development of specialized plant feedstocks for bioenergy.« less

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hardin, M; Harrison, A; Lockamy, V

Purpose: Desire to improve efficiency and throughput inspired a review of our physics chart check procedures. Departmental policy mandates plan checks pre-treatment, after first treatment and weekly every 3–5 days. This study examined the effectiveness of the “after first” check with respect to improving patient safety and clinical efficiency. Type and frequency of variations discovered during this redundant secondary review was examined over seven months. Methods: A community spreadsheet was created to record variations in care discovered during chart review following the first fraction of treatment and before the second fraction (each plan reviewed prior to treatment). Entries were recordedmore » from August 2014 through February 2015, amounting to 43 recorded variations out of 906 reviewed charts. The variations were divided into categories and frequencies were assessed month-to-month. Results: Analysis of recorded variations indicates an overall variation rate of 4.7%. The initial rate was 13.5%; months 2–7 average 3.7%. The majority of variations related to discrepancies in documentation at 46.5%, followed by prescription, plan deficiency, and dose tracking related variations at 25.5%, 12.8%, and 12.8%, respectively. Minor variations (negligible consequence on patient treatment) outweighed major variations 3 to 1. Conclusion: This work indicates that this redundant secondary check is effective. The first month spike in rates could be due to the Hawthorne/observer effect, but the consistent 4% variation rate suggests the need for periodical re-training on variations noted as frequent to improve awareness and quality of the initial chart review process, which may lead to improved treatment quality, patient safety and increased clinical efficiency. Utilizing these results, a continuous quality improvement process following Deming’s Plan-Do-Study-Act (PDSA) methodology was generated. The first iteration of this PDSA was adding a specific dose tracking checklist item in the pre-treatment plan check assessment; the ramification of which will be assessed in future data.« less

What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

PubMed

Jeff, Janina M; Peloso, Gina M; Do, Ron

2016-04-01

Rare variant association studies (RVAS) target the class of genetic variation with frequencies less than 1%. Recently, investigators have used exome sequencing in RVAS to identify rare alleles responsible for Mendelian diseases but have experienced greater difficulty discovering such alleles for complex diseases. In this review, we describe what we have learned about lipoprotein metabolism and coronary heart disease through the conduct of RVAS. Rare protein-altering genetic variation can provide important insights that are not as easily attainable from common variant association studies. First, RVAS can facilitate gene discovery by identifying novel rare protein-altering variants in specific genes that are associated with disease. Second, rare variant associations can provide supportive evidence for putative drug targets for novel therapies. Finally, rare variants can uncover new pathways and reveal new biologic mechanisms. The field of human genetics has already made tremendous progress in understanding lipoprotein metabolism and the causes of coronary heart disease in the context of rare variants. As next generation sequencing becomes more cost-effective, RVAS with larger sample sizes will be conducted. This will lead to more novel rare variant discoveries and the translation of genomic data into biological knowledge and clinical insights for cardiovascular disease.

High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling

PubMed Central

Till, Bradley J.; Zerr, Troy; Bowers, Elisabeth; Greene, Elizabeth A.; Comai, Luca; Henikoff, Steven

2006-01-01

Human individuals differ from one another at only ∼0.1% of nucleotide positions, but these single nucleotide differences account for most heritable phenotypic variation. Large-scale efforts to discover and genotype human variation have been limited to common polymorphisms. However, these efforts overlook rare nucleotide changes that may contribute to phenotypic diversity and genetic disorders, including cancer. Thus, there is an increasing need for high-throughput methods to robustly detect rare nucleotide differences. Toward this end, we have adapted the mismatch discovery method known as Ecotilling for the discovery of human single nucleotide polymorphisms. To increase throughput and reduce costs, we developed a universal primer strategy and implemented algorithms for automated band detection. Ecotilling was validated by screening 90 human DNA samples for nucleotide changes in 5 gene targets and by comparing results to public resequencing data. To increase throughput for discovery of rare alleles, we pooled samples 8-fold and found Ecotilling to be efficient relative to resequencing, with a false negative rate of 5% and a false discovery rate of 4%. We identified 28 new rare alleles, including some that are predicted to damage protein function. The detection of rare damaging mutations has implications for models of human disease. PMID:16893952

Interactions between genetic variation and cellular environment in skeletal muscle gene expression.

PubMed

Taylor, D Leland; Knowles, David A; Scott, Laura J; Ramirez, Andrea H; Casale, Francesco Paolo; Wolford, Brooke N; Guan, Li; Varshney, Arushi; Albanus, Ricardo D'Oliveira; Parker, Stephen C J; Narisu, Narisu; Chines, Peter S; Erdos, Michael R; Welch, Ryan P; Kinnunen, Leena; Saramies, Jouko; Sundvall, Jouko; Lakka, Timo A; Laakso, Markku; Tuomilehto, Jaakko; Koistinen, Heikki A; Stegle, Oliver; Boehnke, Michael; Birney, Ewan; Collins, Francis S

2018-01-01

From whole organisms to individual cells, responses to environmental conditions are influenced by genetic makeup, where the effect of genetic variation on a trait depends on the environmental context. RNA-sequencing quantifies gene expression as a molecular trait, and is capable of capturing both genetic and environmental effects. In this study, we explore opportunities of using allele-specific expression (ASE) to discover cis-acting genotype-environment interactions (GxE)-genetic effects on gene expression that depend on an environmental condition. Treating 17 common, clinical traits as approximations of the cellular environment of 267 skeletal muscle biopsies, we identify 10 candidate environmental response expression quantitative trait loci (reQTLs) across 6 traits (12 unique gene-environment trait pairs; 10% FDR per trait) including sex, systolic blood pressure, and low-density lipoprotein cholesterol. Although using ASE is in principle a promising approach to detect GxE effects, replication of such signals can be challenging as validation requires harmonization of environmental traits across cohorts and a sufficient sampling of heterozygotes for a transcribed SNP. Comprehensive discovery and replication will require large human transcriptome datasets, or the integration of multiple transcribed SNPs, coupled with standardized clinical phenotyping.

A Rare SNP Identified a TCP Transcription Factor Essential for Tendril Development in Cucumber.

PubMed

Wang, Shenhao; Yang, Xueyong; Xu, Mengnan; Lin, Xingzhong; Lin, Tao; Qi, Jianjian; Shao, Guangjin; Tian, Nana; Yang, Qing; Zhang, Zhonghua; Huang, Sanwen

2015-12-07

Rare genetic variants are abundant in genomes but less tractable in genome-wide association study. Here we exploit a strategy of rare variation mapping to discover a gene essential for tendril development in cucumber (Cucumis sativus L.). In a collection of >3000 lines, we discovered a unique tendril-less line that forms branches instead of tendrils and, therefore, loses its climbing ability. We hypothesized that this unusual phenotype was caused by a rare variation and subsequently identified the causative single nucleotide polymorphism. The affected gene TEN encodes a TCP transcription factor conserved within the cucurbits and is expressed specifically in tendrils, representing a new organ identity gene. The variation occurs within a protein motif unique to the cucurbits and impairs its function as a transcriptional activator. Analyses of transcriptomes from near-isogenic lines identified downstream genes required for the tendril's capability to sense and climb a support. This study provides an example to explore rare functional variants in plant genomes. Copyright © 2015 The Author. Published by Elsevier Inc. All rights reserved.

Copy Number Variations in Tilapia Genomes.

PubMed

Li, Bi Jun; Li, Hong Lian; Meng, Zining; Zhang, Yong; Lin, Haoran; Yue, Gen Hua; Xia, Jun Hong

2017-02-01

Discovering the nature and pattern of genome variation is fundamental in understanding phenotypic diversity among populations. Although several millions of single nucleotide polymorphisms (SNPs) have been discovered in tilapia, the genome-wide characterization of larger structural variants, such as copy number variation (CNV) regions has not been carried out yet. We conducted a genome-wide scan for CNVs in 47 individuals from three tilapia populations. Based on 254 Gb of high-quality paired-end sequencing reads, we identified 4642 distinct high-confidence CNVs. These CNVs account for 1.9% (12.411 Mb) of the used Nile tilapia reference genome. A total of 1100 predicted CNVs were found overlapping with exon regions of protein genes. Further association analysis based on linear model regression found 85 CNVs ranging between 300 and 27,000 base pairs significantly associated to population types (R 2  > 0.9 and P > 0.001). Our study sheds first insights on genome-wide CNVs in tilapia. These CNVs among and within tilapia populations may have functional effects on phenotypes and specific adaptation to particular environments.

Genetic susceptibility to Candida infections

PubMed Central

Smeekens, Sanne P; van de Veerdonk, Frank L; Kullberg, Bart Jan; Netea, Mihai G

2013-01-01

Candida spp. are medically important fungi causing severe mucosal and life-threatening invasive infections, especially in immunocompromised hosts. However, not all individuals at risk develop Candida infections, and it is believed that genetic variation plays an important role in host susceptibility. On the one hand, severe fungal infections are associated with monogenic primary immunodeficiencies such as defects in STAT1, STAT3 or CARD9, recently discovered as novel clinical entities. On the other hand, more common polymorphisms in genes of the immune system have also been associated with fungal infections such as recurrent vulvovaginal candidiasis and candidemia. The discovery of the genetic susceptibility to Candida infections can lead to a better understanding of the pathogenesis of the disease, as well as to the design of novel immunotherapeutic strategies. This review is part of the review series on host-pathogen interactions. See more reviews from this series. PMID:23629947

A review comparing cathodic arcs and high power impulse magnetron sputtering (HiPIMS)

DOE PAGES

Anders, André

2014-09-02

In this study, high power impulse magnetron sputtering (HiPIMS) has been in the center of attention over the last years as it is an emerging physical vapor deposition (PVD) technology that combines advantages of magnetron sputtering with various forms of energetic deposition of films such as ion plating and cathodic arc plasma deposition. It should not come at a surprise that many extension and variations of HiPIMS make use, intentionally or unintentionally, of previously discovered approaches to film processing such as substrate surface preparation by metal ion sputtering and phased biasing for film texture and stress control. Therefore, in thismore » review, an overview is given on some historical developments and features of cathodic arc and HiPIMS plasmas, showing commonalities and differences. To limit the scope, emphasis is put on plasma properties, as opposed to surveying the vast literature on specific film materials and their properties.« less

Natural variation in stomatal abundance of Arabidopsis thaliana includes cryptic diversity for different developmental processes

PubMed Central

Delgado, Dolores; Alonso-Blanco, Carlos; Fenoll, Carmen; Mena, Montaña

2011-01-01

Background and Aims Current understanding of stomatal development in Arabidopsis thaliana is based on mutations producing aberrant, often lethal phenotypes. The aim was to discover if naturally occurring viable phenotypes would be useful for studying stomatal development in a species that enables further molecular analysis. Methods Natural variation in stomatal abundance of A. thaliana was explored in two collections comprising 62 wild accessions by surveying adaxial epidermal cell-type proportion (stomatal index) and density (stomatal and pavement cell density) traits in cotyledons and first leaves. Organ size variation was studied in a subset of accessions. For all traits, maternal effects derived from different laboratory environments were evaluated. In four selected accessions, distinct stomatal initiation processes were quantitatively analysed. Key Results and Conclusions Substantial genetic variation was found for all six stomatal abundance-related traits, which were weakly or not affected by laboratory maternal environments. Correlation analyses revealed overall relationships among all traits. Within each organ, stomatal density highly correlated with the other traits, suggesting common genetic bases. Each trait correlated between organs, supporting supra-organ control of stomatal abundance. Clustering analyses identified accessions with uncommon phenotypic patterns, suggesting differences among genetic programmes controlling the various traits. Variation was also found in organ size, which negatively correlated with cell densities in both organs and with stomatal index in the cotyledon. Relative proportions of primary and satellite lineages varied among the accessions analysed, indicating that distinct developmental components contribute to natural diversity in stomatal abundance. Accessions with similar stomatal indices showed different lineage class ratios, revealing hidden developmental phenotypes and showing that genetic determinants of primary and satellite lineage initiation combine in several ways. This first systematic, comprehensive natural variation survey for stomatal abundance in A. thaliana reveals cryptic developmental genetic variation, and provides relevant relationships amongst stomatal traits and extreme or uncommon accessions as resources for the genetic dissection of stomatal development. PMID:21447490

Genetic Variation Linked to Lung Cancer Survival in White Smokers | Center for Cancer Research

Cancer.gov

CCR investigators have discovered evidence that links lung cancer survival with genetic variations (called single nucleotide polymorphisms) in the MBL2 gene, a key player in innate immunity. The variations in the gene, which codes for a protein called the mannose-binding lectin, occur in its promoter region, where the RNA polymerase molecule binds to start transcription, and in the first exon that is responsible for the correct structure of MBL. The findings appear in the September 19, 2007, issue of the Journal of the National Cancer Institute.

Major QTLs for critical photoperiod and vernalization underlie extensive variation in flowering in the Mimulus guttatus species complex.

PubMed

Friedman, Jannice; Willis, John H

2013-07-01

Species with extensive ranges experience highly variable environments with respect to temperature, light and soil moisture. Synchronizing the transition from vegetative to floral growth is important to employ favorable conditions for reproduction. Optimal timing of this transition might be different for semelparous annual plants and iteroparous perennial plants. We studied variation in the critical photoperiod necessary for floral induction and the requirement for a period of cold-chilling (vernalization) in 46 populations of annuals and perennials in the Mimulus guttatus species complex. We then examined critical photoperiod and vernalization QTLs in growth chambers using F(2) progeny from annual and perennial parents that differed in their requirements for flowering. We identify extensive variation in critical photoperiod, with most annual populations requiring substantially shorter day lengths to initiate flowering than perennial populations. We discover a novel type of vernalization requirement in perennial populations that is contingent on plants experiencing short days first. QTL analyses identify two large-effect QTLs which influence critical photoperiod. In two separate vernalization experiments we discover each set of crosses contain different large-effect QTLs for vernalization. Mimulus guttatus harbors extensive variation in critical photoperiod and vernalization that may be a consequence of local adaptation. © 2013 The Authors. New Phytologist © 2013 New Phytologist Trust.

Natural positive selection and north-south genetic diversity in East Asia.

PubMed

Suo, Chen; Xu, Haiyan; Khor, Chiea-Chuen; Ong, Rick Th; Sim, Xueling; Chen, Jieming; Tay, Wan-Ting; Sim, Kar-Seng; Zeng, Yi-Xin; Zhang, Xuejun; Liu, Jianjun; Tai, E-Shyong; Wong, Tien-Yin; Chia, Kee-Seng; Teo, Yik-Ying

2012-01-01

Recent reports have identified a north-south cline in genetic variation in East and South-East Asia, but these studies have not formally explored the basis of these clinical differences. Understanding the origins of these variations may provide valuable insights in tracking down the functional variants in genomic regions identified by genetic association studies. Here we investigate the genetic basis of these differences with genome-wide data from the HapMap, the Human Genome Diversity Project and the Singapore Genome Variation Project. We implemented four bioinformatic measures to discover genomic regions that are considerably differentiated either between two Han Chinese populations in the north and south of China, or across 22 populations in East and South-East Asia. These measures prioritized genomic stretches with: (i) regional differences in the allelic spectrum for SNPs common to the two Han Chinese populations; (ii) differential evidence of positive selection between the two populations as quantified by integrated haplotype score (iHS) and cross-population extended haplotype homozygosity (XP-EHH); (iii) significant correlation between allele frequencies and geographical latitudes of the 22 populations. We also explored the extent of linkage disequilibrium variations in these regions, which is important in combining genetic association studies from North and South Chinese. Two of the regions that emerged are found in HLA class I and II, suggesting that the HLA imputation panel from the HapMap may not be directly applicable to every Chinese sample. This has important implications to autoimmune studies that plan to impute the classical HLA alleles to fine map the SNP association signals.

Natural positive selection and north–south genetic diversity in East Asia

PubMed Central

Suo, Chen; Xu, Haiyan; Khor, Chiea-Chuen; Ong, Rick TH; Sim, Xueling; Chen, Jieming; Tay, Wan-Ting; Sim, Kar-Seng; Zeng, Yi-Xin; Zhang, Xuejun; Liu, Jianjun; Tai, E-Shyong; Wong, Tien-Yin; Chia, Kee-Seng; Teo, Yik-Ying

2012-01-01

Recent reports have identified a north–south cline in genetic variation in East and South-East Asia, but these studies have not formally explored the basis of these clinical differences. Understanding the origins of these variations may provide valuable insights in tracking down the functional variants in genomic regions identified by genetic association studies. Here we investigate the genetic basis of these differences with genome-wide data from the HapMap, the Human Genome Diversity Project and the Singapore Genome Variation Project. We implemented four bioinformatic measures to discover genomic regions that are considerably differentiated either between two Han Chinese populations in the north and south of China, or across 22 populations in East and South-East Asia. These measures prioritized genomic stretches with: (i) regional differences in the allelic spectrum for SNPs common to the two Han Chinese populations; (ii) differential evidence of positive selection between the two populations as quantified by integrated haplotype score (iHS) and cross-population extended haplotype homozygosity (XP-EHH); (iii) significant correlation between allele frequencies and geographical latitudes of the 22 populations. We also explored the extent of linkage disequilibrium variations in these regions, which is important in combining genetic association studies from North and South Chinese. Two of the regions that emerged are found in HLA class I and II, suggesting that the HLA imputation panel from the HapMap may not be directly applicable to every Chinese sample. This has important implications to autoimmune studies that plan to impute the classical HLA alleles to fine map the SNP association signals. PMID:21792231

Three variations of the laryngeal nerve in the same patient: a case report

PubMed Central

2011-01-01

Introduction A non-recurrent course is a rare anatomic variation of the inferior laryngeal nerve (ILN). Bilateral extra-laryngeal bifurcation of the ILN seldom occurs before its laryngeal entry. Anastomosis between the ILN and cervical sympathetic chain is another rare anatomic feature. The prevalence of extra-laryngeal branching of the non-recurrent nerve is unknown. We present an example of triple anatomic variations of ILNs in the same patient, and also two anatomic variations in the same nerve. Case presentation A 56-year-old Caucasian man with a large toxic multi-nodular goiter was surgically treated with total thyroidectomy. Both his right and left ILNs were identified, fully exposed and preserved along their cervical courses. We discovered many variations during bilateral exploration of the two ILNs. His right ILN was non-recurrent. This non-recurrent ILN showed a terminal division before laryngeal entry. The left nerve had a usual course as a recurrent laryngeal nerve (RLN) at his tracheaesophageal groove. We also discovered bifurcation of his RLN beginning at a neurovascular (RLN and inferior thyroid artery) crossing point. Anterior and posterior branches of both nerves entered his larynx separately. The sympathetic inferior laryngeal anastomotic branch (SILAB) between the posterior branch of his left ILN and the cervical sympathetic chain was established in the distal part of the nerve before laryngeal entry. Conclusion A non-recurrent nerve and extra-laryngeal branching of the ILN are two different variations. The coincidence of a right non-recurrent ILN and bilateral bifurcation of both nerves is a very interesting feature. SILAB is a rare additional finding as a third anatomic variation in the same patient. Extra-laryngeal terminal division of a non-recurrent ILN is an extremely unusual anatomic finding. Two anatomic variations have occurred in the same nerve, like "the variation of the variation". PMID:21722360

Common Mechanism Underlies Repeated Evolution of Extreme Pollution Tolerance

EPA Science Inventory

Human alterations to the environment can exert strong evolutionary pressures, yet contemporary adaptation to human-mediated stressors is rarely documented in wild populations. A common-garden experimental design was coupled with comparative transcriptomics to discover evolved me...

Adaptation of metabolism and evaporative water loss along an aridity gradient.

PubMed

Tieleman, B Irene; Williams, Joseph B; Bloomer, Paulette

2003-01-22

Broad-scale comparisons of birds indicate the possibility of adaptive modification of basal metabolic rate (BMR) and total evaporative water loss (TEWL) in species from desert environments, but these might be confounded by phylogeny or phenotypic plasticity. This study relates variation in avian BMR and TEWL to a continuously varying measure of environment, aridity. We test the hypotheses that BMR and TEWL are reduced along an aridity gradient within the lark family (Alaudidae), and investigate the role of phylogenetic inertia. For 12 species of lark, BMR and TEWL decreased along a gradient of increasing aridity, a finding consistent with our proposals. We constructed a phylogeny for 22 species of lark based on sequences of two mitochondrial genes, and investigated whether phylogenetic affinity played a part in the correlation of phenotype and environment. A test for serial independence of the data for mass-corrected TEWL and aridity showed no influence of phylogeny on our findings. However, we did discover a significant phylogenetic effect in mass-corrected data for BMR, a result attributable to common phylogenetic history or to common ecological factors. A test of the relationship between BMR and aridity using phylogenetic independent constrasts was consistent with our previous analysis: BMR decreased with increasing aridity.

Unraveling Genetic Modifiers in the Gria4 Mouse Model of Absence Epilepsy

PubMed Central

Frankel, Wayne N.; Mahaffey, Connie L.; McGarr, Tracy C.; Beyer, Barbara J.; Letts, Verity A.

2014-01-01

Absence epilepsy (AE) is a common type of genetic generalized epilepsy (GGE), particularly in children. AE and GGE are complex genetic diseases with few causal variants identified to date. Gria4 deficient mice provide a model of AE, one for which the common laboratory inbred strain C3H/HeJ (HeJ) harbors a natural IAP retrotransposon insertion in Gria4 that reduces its expression 8-fold. Between C3H and non-seizing strains such as C57BL/6, genetic modifiers alter disease severity. Even C3H substrains have surprising variation in the duration and incidence of spike-wave discharges (SWD), the characteristic electroencephalographic feature of absence seizures. Here we discovered extensive IAP retrotransposition in the C3H substrain, and identified a HeJ-private IAP in the Pcnxl2 gene, which encodes a putative multi-transmembrane protein of unknown function, resulting in decreased expression. By creating new Pcnxl2 frameshift alleles using TALEN mutagenesis, we show that Pcnxl2 deficiency is responsible for mitigating the seizure phenotype – making Pcnxl2 the first known modifier gene for absence seizures in any species. This finding gave us a handle on genetic complexity between strains, directing us to use another C3H substrain to map additional modifiers including validation of a Chr 15 locus that profoundly affects the severity of SWD episodes. Together these new findings expand our knowledge of how natural variation modulates seizures, and highlights the feasibility of characterizing and validating modifiers in mouse strains and substrains in the post-genome sequence era. PMID:25010494

Sequence variations of the human MPDZ gene and association with alcoholism in subjects with European ancestry.

PubMed

Karpyak, Victor M; Kim, Jeong-Hyun; Biernacka, Joanna M; Wieben, Eric D; Mrazek, David A; Black, John L; Choi, Doo-Sup

2009-04-01

Mpdz gene variations are known contributors of acute alcohol withdrawal severity and seizures in mice. To investigate the relevance of these findings for human alcoholism, we resequenced 46 exons, exon-intron boundaries, and 2 kilobases in the 5' region of the human MPDZ gene in 61 subjects with a history of alcohol withdrawal seizures (AWS), 59 subjects with a history of alcohol withdrawal without AWS, and 64 Coriell samples from self-reported nonalcoholic subjects [all European American (EA) ancestry] and compared with the Mpdz sequences of 3 mouse strains with different propensity to AWS. To explore potential associations of the human MPDZ gene with alcoholism and AWS, single SNP and haplotype analyses were performed using 13 common variants. Sixty-seven new, mostly rare variants were discovered in the human MPDZ gene. Sequence comparison revealed that the human gene does not have variations identical to those comprising Mpdz gene haplotype associated with AWS in mice. We also found no significant association between MPDZ haplotypes and AWS in humans. However, a global test of haplotype association revealed a significant difference in haplotype frequencies between alcohol-dependent subjects without AWS and Coriell controls (p = 0.015), suggesting a potential role of MPDZ in alcoholism and/or related phenotypes other than AWS. Haplotype-specific tests for the most common haplotypes (frequency > 0.05), revealed a specific high-risk haplotype (p = 0.006, maximum statistic p = 0.051), containing rs13297480G allele also found to be significantly more prevalent in alcoholics without AWS compared with nonalcoholic Coriell subjects (p = 0.019). Sequencing of MPDZ gene in individuals with EA ancestry revealed no variations in the sites identical to those associated with AWS in mice. Exploratory haplotype and single SNP association analyses suggest a possible association between the MPDZ gene and alcohol dependence but not AWS. Further functional genomic analysis of MPDZ variants and investigation of their association with a broader array of alcoholism-related phenotypes could reveal additional genetic markers of alcoholism.

The most plausible explanation of the cyclic period changes in close binaries: the case of the RS CVn-type binary WW Dra

NASA Astrophysics Data System (ADS)

Liao, W.-P.; Qian, S.-B.

2010-07-01

Cyclic period changes are a fairly common phenomenon in close binary systems and are usually explained as being caused either by the magnetic activity of one or both components or by the light travel time effect (LTTE) of a third body. We searched the orbital period changes in 182 EA-type (including the 101 Algol systems used by Hall), 43 EB-type and 53 EW-type binaries with known mass ratio and spectral type of the secondary component. We reproduced and improved the diagram in Hall according to the new collected data. Our plots do not support the conclusion derived by Hall that cyclic period changes are restricted to binaries having a secondary component with spectral type later than F5. The presence of period changes among systems with a secondary component of early type indicates that magnetic activity is one, but not the only, cause of the period variation. It is discovered that cyclic period changes, probably resulting from the presence of a third body, are more frequent in EW-type binaries among close systems. Therefore, the most plausible explanation of the cyclic period changes is the LTTE through the presence of a third body. Using the century-long historical record of the times of light minimum, we analysed the cyclic period change in the Algol binary WW Dra. It is found that the orbital period of the binary shows a ~112.2-yr cyclic variation with an amplitude of ~0.1977d. The cyclic oscillation can be attributed to the LTTE by means of a third body with a mass no less than 6.43Msolar. However, no spectral lines of the third body were discovered, indicating that it may be a candidate black hole. The third body is orbiting the binary at a distance closer than 14.4 au and may play an important role in the evolution of this system.

FAST TRACK COMMUNICATION Accurate estimate of α variation and isotope shift parameters in Na and Mg+

NASA Astrophysics Data System (ADS)

Sahoo, B. K.

2010-12-01

We present accurate calculations of fine-structure constant variation coefficients and isotope shifts in Na and Mg+ using the relativistic coupled-cluster method. In our approach, we are able to discover the roles of various correlation effects explicitly to all orders in these calculations. Most of the results, especially for the excited states, are reported for the first time. It is possible to ascertain suitable anchor and probe lines for the studies of possible variation in the fine-structure constant by using the above results in the considered systems.

The genetic effect of copy number variations on the risk of alcoholism in a Korean population.

PubMed

Bae, Joon Seol; Jung, Myung Hun; Lee, Boung Chul; Cheong, Hyun Sub; Park, Byung Lae; Kim, Lyoung Hyo; Kim, Jeong-Hyun; Pasaje, Charisse Flerida A; Lee, Jin Sol; Jung, Kyoung Hwa; Chai, Young Gyu; Shin, Hyoung Doo; Choi, Ihn-Geun

2012-01-01

Alcoholism, a chronic behavioral disorder characterized by excessive alcohol consumption, has been a leading cause of morbidity and premature death. This condition is believed to be influenced by genetic factors. As copy number variation (CNV) has been recently discovered in human genome, genomic diversity of human genome is more frequent than previously thought. Many studies have reported evidences that CNV is associated with the development of complex diseases. In this study, we hypothesized that CNV can predict the risk of alcoholism. Using the Illumina HumanHap660W-Quad BeadChip (∼660 k markers), genome-wide genotyping was performed to obtain signal and allelic intensities from 116 alcoholic cases and 1,022 healthy controls (total n = 1,138) in a Korean population. To identify alcoholism-associated CNV regions, we performed a genome-wide association analysis, using multivariate logistic regression model controlling for age and gender. We identified a total of 255,732 individual CNVs and 3,261 CNV regions (1,067 common CNV regions, frequency > 1%) in this study. Results from multivariate logistic regression showed that the chr20:61195302-61195978 regions were significantly associated with the risk of alcoholism after multiple corrections (p = 5.02E-05, p(corr) = 0.04). Most of the identified variations in this study overlapped with the previously reported CNVs in the Database of Genomic Variants (95.3%). The identified CNVs, which encompassed 3,226 functional genes, were significantly enriched in the cellular part, in the membrane-bound organelle, in the cell part, in developmental processes, in cell communication, in neurological system process, in sensory perception of smell and chemical stimulus, and in olfactory receptor activity. This is the first genome-wide association study to investigate the relationship between common CNV and alcoholism. Our results suggest that the newly identified CNV regions may contribute to the development of alcoholism. Copyright © 2011 by the Research Society on Alcoholism.

Single nucleotide polymorphisms in common bean: their discovery and genotyping using a multiplex detection system

USDA-ARS?s Scientific Manuscript database

Single-nucleotide Polymorphism (SNP) markers are by far the most common form of DNA polymorphism in a genome. The objectives of this study were to discover SNPs in common bean comparing sequences from coding and non-coding regions obtained from Genbank and genomic DNA and to compare sequencing resu...

Common Pine Shoot Beetle

Treesearch

Robert A. Haack; Daniel Kucera; Steven Passoa

1993-01-01

The common (or larger) pine shoot beetle, Tomicus (=Blastophagus) piniperda (L.), was discovered near Cleveland, Ohio in July 1992. As of this writing, it is now in six states: Illinois, Indiana, Michigan, New York, Ohio, and Pennsylvania. Adults of the common pine shoot beetle are cylindrical and range from 3 to 5 mm in length (about the size of a match head). Their...

Vascular Variations Associated with Intracranial Aneurysms.

PubMed

Orakdogen, Metin; Emon, Selin Tural; Somay, Hakan; Engin, Taner; Is, Merih; Hakan, Tayfun

2017-01-01

To investigate the vascular variations in patients with intracranial aneurysm in circle of Willis. We used the data on 128 consecutive intracranial aneurysm cases. Cerebral angiography images were analyzed retrospectively. Arteries were grouped as anterior cerebral arterial system (ACS), posterior cerebral arterial system (PCS) and middle cerebral arterial system (MCS) for grouping vascular variations. Lateralization, being single/multiple, gender; and also any connection with accompanying aneurysms" number, localization, dimension, whether bleeding/incidental aneurysm has been inspected. Variations were demonstrated in 57.8% of the cases. The most common variation was A1 variation (34.4%). The rate of variations was 36.7%, 24.2% and 10.2% respectively in ACS, PCS and MCS. MCS variations were significantly higher in males. Anterior communicating artery (ACoA) aneurysm observance rates were significantly higher and posterior communicating artery (PCoA) aneurysm and middle cerebral artery (MCA) aneurysm observance rates were significantly lower when compared to "no ACS variation detected" cases. In "PCS variation detected" cases, PCoA aneurysm observance rates and coexistence of multiple variations were significantly higher. The rate of vascular variations in patients with aneurysms was 57.8%. Arterial hypoplasia and aplasia were the most common variations. ACS was the most common region that variations were located in; they were mostly detected on the right side. Coexistence of ACoA aneurysm was higher than PCoA and MCA aneurysms. In the PCS variations group, PCoA aneurysms were the most common aneurysms that accompanying the variation and multiple variations were more common than in the other two groups. The variations in MCS were most common in males.

Comparative Metagenomics Revealed Commonly Enriched Gene Sets in Human Gut Microbiomes

PubMed Central

Kurokawa, Ken; Itoh, Takehiko; Kuwahara, Tomomi; Oshima, Kenshiro; Toh, Hidehiro; Toyoda, Atsushi; Takami, Hideto; Morita, Hidetoshi; Sharma, Vineet K.; Srivastava, Tulika P.; Taylor, Todd D.; Noguchi, Hideki; Mori, Hiroshi; Ogura, Yoshitoshi; Ehrlich, Dusko S.; Itoh, Kikuji; Takagi, Toshihisa; Sakaki, Yoshiyuki; Hayashi, Tetsuya; Hattori, Masahira

2007-01-01

Numerous microbes inhabit the human intestine, many of which are uncharacterized or uncultivable. They form a complex microbial community that deeply affects human physiology. To identify the genomic features common to all human gut microbiomes as well as those variable among them, we performed a large-scale comparative metagenomic analysis of fecal samples from 13 healthy individuals of various ages, including unweaned infants. We found that, while the gut microbiota from unweaned infants were simple and showed a high inter-individual variation in taxonomic and gene composition, those from adults and weaned children were more complex but showed a high functional uniformity regardless of age or sex. In searching for the genes over-represented in gut microbiomes, we identified 237 gene families commonly enriched in adult-type and 136 families in infant-type microbiomes, with a small overlap. An analysis of their predicted functions revealed various strategies employed by each type of microbiota to adapt to its intestinal environment, suggesting that these gene sets encode the core functions of adult and infant-type gut microbiota. By analysing the orphan genes, 647 new gene families were identified to be exclusively present in human intestinal microbiomes. In addition, we discovered a conjugative transposon family explosively amplified in human gut microbiomes, which strongly suggests that the intestine is a ‘hot spot’ for horizontal gene transfer between microbes. PMID:17916580

The 1000 Genomes Project: data management and community access.

PubMed

Clarke, Laura; Zheng-Bradley, Xiangqun; Smith, Richard; Kulesha, Eugene; Xiao, Chunlin; Toneva, Iliana; Vaughan, Brendan; Preuss, Don; Leinonen, Rasko; Shumway, Martin; Sherry, Stephen; Flicek, Paul

2012-04-27

The 1000 Genomes Project was launched as one of the largest distributed data collection and analysis projects ever undertaken in biology. In addition to the primary scientific goals of creating both a deep catalog of human genetic variation and extensive methods to accurately discover and characterize variation using new sequencing technologies, the project makes all of its data publicly available. Members of the project data coordination center have developed and deployed several tools to enable widespread data access.

The conjecture concerning time variations in the solar neutrino flux

NASA Technical Reports Server (NTRS)

Haubold, H. J.; Gerth, E.

1985-01-01

The results of the Fourier transformation of the unequally-spaced time series of the recorded Ar-37 production rate of the solar neutrino experiment (runs 18 to 80, 1970 to 1983) are reviewed. Significance criteria for every period discovered by the harmonic analysis are determined. A Fourier synthesis of certain discovered harmonics are performed. It seems that the solar neutrino flux increases shock-like with a period of approximately 8.3 years and after that breaks down. Possible connections between the periods found by the harmonic analysis and several observed phenomena on the solar surface are indicated.

Most genetic risk for autism resides with common variation.

PubMed

Gaugler, Trent; Klei, Lambertus; Sanders, Stephan J; Bodea, Corneliu A; Goldberg, Arthur P; Lee, Ann B; Mahajan, Milind; Manaa, Dina; Pawitan, Yudi; Reichert, Jennifer; Ripke, Stephan; Sandin, Sven; Sklar, Pamela; Svantesson, Oscar; Reichenberg, Abraham; Hultman, Christina M; Devlin, Bernie; Roeder, Kathryn; Buxbaum, Joseph D

2014-08-01

A key component of genetic architecture is the allelic spectrum influencing trait variability. For autism spectrum disorder (herein termed autism), the nature of the allelic spectrum is uncertain. Individual risk-associated genes have been identified from rare variation, especially de novo mutations. From this evidence, one might conclude that rare variation dominates the allelic spectrum in autism, yet recent studies show that common variation, individually of small effect, has substantial impact en masse. At issue is how much of an impact relative to rare variation this common variation has. Using a unique epidemiological sample from Sweden, new methods that distinguish total narrow-sense heritability from that due to common variation and synthesis of results from other studies, we reach several conclusions about autism's genetic architecture: its narrow-sense heritability is ∼52.4%, with most due to common variation, and rare de novo mutations contribute substantially to individual liability, yet their contribution to variance in liability, 2.6%, is modest compared to that for heritable variation.

Functional proteomic approach to discover geographic variations of king cobra venoms from Southeast Asia and China.

PubMed

Chang, Hui-Ching; Tsai, Tein-Shun; Tsai, Inn-Ho

2013-08-26

This study deciphers the geographic variations of king cobra (Ophiophagus hannah) venom using functional proteomics. Pooled samples of king cobra venom (abbreviated as Ohv) were obtained from Indonesia, Malaysia, Thailand, and two provinces of China, namely Guangxi and Hainan. Using two animal models to test and compare the lethal effects, we found that the Chinese Ohvs were more fatal to mice, while the Southeast Asian Ohvs were more fatal to lizards (Eutropis multifasciata). Various phospholipases A2 (PLA2s), three-finger toxins (3FTxs) and Kunitz-type inhibitors were purified from these Ohvs and compared. Besides the two Chinese Ohv PLA2s with known sequences, eight novel PLA2s were identified from the five Ohv samples and their antiplatelet activities were compared. While two 3FTxs (namely oh-55 and oh-27) were common in all the Ohvs, different sets of 3FTx markers were present in the Chinese and Southeast Asian Ohvs. All the Ohvs contain the Kunitz inhibitor, OH-TCI, while only the Chinese Ohvs contain the inhibitor variant, Oh11-1. Relative to the Chinese Ohvs which contained more phospholipases, the Southeast Asian Ohvs had higher metalloproteinase, acetylcholine esterase, and alkaline phosphatase activities. Remarkable variations in five king cobra geographic samples reveal fast evolution and dynamic translational regulation of the venom which probably adapted to different prey ecology as testified by the lethal tests on mice and lizards. Our results predict possible variations of the king cobra envenoming to human and the importance of using local antivenin for snakebite treatment. Copyright © 2013 Elsevier B.V. All rights reserved.

Genome-wide association as a means to understanding the mammary gland

USDA-ARS?s Scientific Manuscript database

Next-generation sequencing and related technologies have facilitated the creation of enormous public databases that catalogue genomic variation. These databases have facilitated a variety of approaches to discover new genes that regulate normal biology as well as disease. Genome wide association (...

A strategy to discover new organizers identifies a putative heart organizer

PubMed Central

Anderson, Claire; Khan, Mohsin A. F.; Wong, Frances; Solovieva, Tatiana; Oliveira, Nidia M. M.; Baldock, Richard A.; Tickle, Cheryll; Burt, Dave W.; Stern, Claudio D.

2016-01-01

Organizers are regions of the embryo that can both induce new fates and impart pattern on other regions. So far, surprisingly few organizers have been discovered, considering the number of patterned tissue types generated during development. This may be because their discovery has relied on transplantation and ablation experiments. Here we describe a new approach, using chick embryos, to discover organizers based on a common gene expression signature, and use it to uncover the anterior intestinal portal (AIP) endoderm as a putative heart organizer. We show that the AIP can induce cardiac identity from non-cardiac mesoderm and that it can pattern this by specifying ventricular and suppressing atrial regional identity. We also uncover some of the signals responsible. The method holds promise as a tool to discover other novel organizers acting during development. PMID:27557800

The Genetic Architecture of Coronary Artery Disease: Current Knowledge and Future Opportunities

PubMed Central

Hartiala, Jaana; Schwartzman, William S.; Gabbay, Julian; Ghazalpour, Anatole; Bennett, Brian J.; Allayee, Hooman

2018-01-01

Purpose of review We provide an overview of our current understanding of the genetic architecture of coronary artery disease (CAD)and discuss areas of research that provide excellent opportunities for further exploration. Recent findings Large-scale studies in human populations, coupled with rapid advances in genetic technologies over the last decade, have clearly established the association of common genetic variation with risk of CAD. However, the effect sizes of the susceptibility alleles are for the most part modest and collectively explain only a small fraction of the overall heritability. By comparison, evidence that rare variants make a substantial contribution to risk of CAD has been somewhat disappointing thus far, suggesting that other biological mechanisms have yet to be discovered. Emerging data suggests that novel pathways involved in the development of CAD can be identified through complementary and integrative systems genetics strategies in mice or humans. There is also convincing evidence that gut bacteria play a previously unrecognized role in the development of CAD, particularly through metabolism of certain dietary nutrients that lead to proatherogenic metabolites in the circulation. Summary A major effort is now underway to functionally understand the newly discovered genetic and biological associations for CAD, which could lead to the development of potentially novel therapeutic strategies. Other important areas of investigation for understanding the pathophysiology of CAD, including epistatic interactions between genes or with either sex and environmental factors, have not been studied on a broad scope and represent additional opportunities for future studies. PMID:28130654

Update on the role of genetics in the onset of age-related macular degeneration

PubMed Central

Francis, Peter James; Klein, Michael L

2011-01-01

Age-related macular degeneration (AMD), akin to other common age-related diseases, has a complex pathogenesis and arises from the interplay of genes, environmental factors, and personal characteristics. The past decade has seen very significant strides towards identification of those precise genetic variants associated with disease. That genes encoding proteins of the (alternative) complement pathway (CFH, C2, CFB, C3, CFI) are major players in etiology came as a surprise to many but has already lead to the development of therapies entering human clinical trials. Other genes replicated in many populations ARMS2, APOE, variants near TIMP3, and genes involved in lipid metabolism have also been implicated in disease pathogenesis. The genes discovered to date can be estimated to account for approximately 50% of the genetic variance of AMD and have been discovered by candidate gene approaches, pathway analysis, and latterly genome-wide association studies. Next generation sequencing modalities and meta-analysis techniques are being employed with the aim of identifying the remaining rarer but, perhaps, individually more significant sequence variations, linked to disease status. Complementary studies have also begun to utilize this genetic information to develop clinically useful algorithms to predict AMD risk and evaluate pharmacogenetics. In this article, contemporary commentary is provided on rapidly progressing efforts to elucidate the genetic pathogenesis of AMD as the field stands at the end of the first decade of the 21st century. PMID:21887094

Bioherbicidal potential of a strain of Xanthomonas spp. for control of common cockelbur, (Santium strumarium)

USDA-ARS?s Scientific Manuscript database

Several isolates of a previously unreported disease were discovered on common cocklebur seedlings in Chicot County, Arkansas and Washington County, Mississippi. Diseased plants in nature exhibited angular-shaped leaf spotting symptoms on leaf margins and central leaf areas. The isolates were cultu...

Common Leadership Responsibilities of Principals of Successful Turnaround Model Schools

ERIC Educational Resources Information Center

Fullwood, Jezelle

2016-01-01

Purpose: The purpose of this qualitative study was to discover which leadership responsibilities, within the domains of trust, communication, learning, and shared leadership, did elementary and middle school principals of successful turnaround schools commonly perceive as most necessary to lead a turnaround intervention model school. Themes were…

Epigenetic and genetic components of height regulation.

PubMed

Benonisdottir, Stefania; Oddsson, Asmundur; Helgason, Agnar; Kristjansson, Ragnar P; Sveinbjornsson, Gardar; Oskarsdottir, Arna; Thorleifsson, Gudmar; Davidsson, Olafur B; Arnadottir, Gudny A; Sulem, Gerald; Jensson, Brynjar O; Holm, Hilma; Alexandersson, Kristjan F; Tryggvadottir, Laufey; Walters, G Bragi; Gudjonsson, Sigurjon A; Ward, Lucas D; Sigurdsson, Jon K; Iordache, Paul D; Frigge, Michael L; Rafnar, Thorunn; Kong, Augustine; Masson, Gisli; Helgason, Hannes; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel F; Sulem, Patrick; Stefansson, Kari

2016-11-16

Adult height is a highly heritable trait. Here we identified 31.6 million sequence variants by whole-genome sequencing of 8,453 Icelanders and tested them for association with adult height by imputing them into 88,835 Icelanders. Here we discovered 13 novel height associations by testing four different models including parent-of-origin (|β|=0.4-10.6 cm). The minor alleles of three parent-of-origin signals associate with less height only when inherited from the father and are located within imprinted regions (IGF2-H19 and DLK1-MEG3). We also examined the association of these sequence variants in a set of 12,645 Icelanders with birth length measurements. Two of the novel variants, (IGF2-H19 and TET1), show significant association with both adult height and birth length, indicating a role in early growth regulation. Among the parent-of-origin signals, we observed opposing parental effects raising questions about underlying mechanisms. These findings demonstrate that common variations affect human growth by parental imprinting.

Feasibility of tailoring of press formed thermoplastic composite parts

NASA Astrophysics Data System (ADS)

Sinke, J.

2018-05-01

The Tailor Made Blank concept is widely accepted in the production of sheet metal parts. By joining, adding and subtracting materials, and sometimes even applying different alloys, parts can be produced more efficiently by cost and/or weight, and new design options have been discovered. This paper is about the manufacture of press formed parts of Fibre Reinforced Thermoplastics and the evaluation whether the Tailoring concept, though adapted to the material behavior of FRTP, can be applied to these composites as well. From research, the first results and ideas are presented. One of the ideas is the multistep forming process, creating parts with thickness variations and combinations of fibre orientations that are usually not feasible using common press forming strategies. Another idea is the blending of different prepreg materials in one component. This might be useful in case of specific details, like for areas of mechanical fastening or to avoid carbon/metal contact, otherwise resulting in severe corrosion. In a brief overview, future perspectives of the potential of the Tailoring concept are presented.

Integrating single-cell transcriptomic data across different conditions, technologies, and species.

PubMed

Butler, Andrew; Hoffman, Paul; Smibert, Peter; Papalexi, Efthymia; Satija, Rahul

2018-06-01

Computational single-cell RNA-seq (scRNA-seq) methods have been successfully applied to experiments representing a single condition, technology, or species to discover and define cellular phenotypes. However, identifying subpopulations of cells that are present across multiple data sets remains challenging. Here, we introduce an analytical strategy for integrating scRNA-seq data sets based on common sources of variation, enabling the identification of shared populations across data sets and downstream comparative analysis. We apply this approach, implemented in our R toolkit Seurat (http://satijalab.org/seurat/), to align scRNA-seq data sets of peripheral blood mononuclear cells under resting and stimulated conditions, hematopoietic progenitors sequenced using two profiling technologies, and pancreatic cell 'atlases' generated from human and mouse islets. In each case, we learn distinct or transitional cell states jointly across data sets, while boosting statistical power through integrated analysis. Our approach facilitates general comparisons of scRNA-seq data sets, potentially deepening our understanding of how distinct cell states respond to perturbation, disease, and evolution.

Novel genetic loci associated with hippocampal volume.

PubMed

Hibar, Derrek P; Adams, Hieab H H; Jahanshad, Neda; Chauhan, Ganesh; Stein, Jason L; Hofer, Edith; Renteria, Miguel E; Bis, Joshua C; Arias-Vasquez, Alejandro; Ikram, M Kamran; Desrivières, Sylvane; Vernooij, Meike W; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S; Armstrong, Nicola J; Athanasiu, Lavinia; Axelsson, Tomas; Beecham, Ashley H; Beiser, Alexa; Bernard, Manon; Blanton, Susan H; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brickman, Adam M; Carmichael, Owen; Chakravarty, M Mallar; Chen, Qiang; Ching, Christopher R K; Chouraki, Vincent; Cuellar-Partida, Gabriel; Crivello, Fabrice; Den Braber, Anouk; Doan, Nhat Trung; Ehrlich, Stefan; Giddaluru, Sudheer; Goldman, Aaron L; Gottesman, Rebecca F; Grimm, Oliver; Griswold, Michael E; Guadalupe, Tulio; Gutman, Boris A; Hass, Johanna; Haukvik, Unn K; Hoehn, David; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Jørgensen, Kjetil N; Karbalai, Nazanin; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Liewald, David C M; Lopez, Lorna M; Luciano, Michelle; Macare, Christine; Marquand, Andre F; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; McKay, David R; Milaneschi, Yuri; Muñoz Maniega, Susana; Nho, Kwangsik; Nugent, Allison C; Nyquist, Paul; Loohuis, Loes M Olde; Oosterlaan, Jaap; Papmeyer, Martina; Pirpamer, Lukas; Pütz, Benno; Ramasamy, Adaikalavan; Richards, Jennifer S; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rommelse, Nanda; Ropele, Stefan; Rose, Emma J; Royle, Natalie A; Rundek, Tatjana; Sämann, Philipp G; Saremi, Arvin; Satizabal, Claudia L; Schmaal, Lianne; Schork, Andrew J; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V; Sprooten, Emma; Strike, Lachlan T; Teumer, Alexander; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Trompet, Stella; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Lee, Sven J; Van der Meer, Dennis; Van Donkelaar, Marjolein M J; Van Eijk, Kristel R; Van Erp, Theo G M; Van Rooij, Daan; Walton, Esther; Westlye, Lars T; Whelan, Christopher D; Windham, Beverly G; Winkler, Anderson M; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Yanek, Lisa R; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P; Agartz, Ingrid; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A; Arepalli, Sampath; Assareh, Amelia A; Barral, Sandra; Bastin, Mark E; Becker, Diane M; Becker, James T; Bennett, David A; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I; Brodaty, Henry; Brouwer, Rachel M; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Bulayeva, Kazima B; Cahn, Wiepke; Calhoun, Vince D; Cannon, Dara M; Cavalleri, Gianpiero L; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Dale, Anders M; Davies, Gareth E; De Craen, Anton J M; De Geus, Eco J C; De Jager, Philip L; De Zubicaray, Greig I; Deary, Ian J; Debette, Stéphanie; DeCarli, Charles; Delanty, Norman; Depondt, Chantal; DeStefano, Anita; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C; Duggirala, Ravi; Dyer, Thomas D; Enzinger, Christian; Erk, Susanne; Espeseth, Thomas; Fedko, Iryna O; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E; Fleischman, Debra A; Ford, Ian; Fornage, Myriam; Foroud, Tatiana M; Fox, Peter T; Francks, Clyde; Fukunaga, Masaki; Gibbs, J Raphael; Glahn, David C; Gollub, Randy L; Göring, Harald H H; Green, Robert C; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Håberg, Asta K; Hansell, Narelle K; Hardy, John; Hartman, Catharina A; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G; Heslenfeld, Dirk J; Ho, Beng-Choon; Hoekstra, Pieter J; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Huentelman, Matthew; Hulshoff Pol, Hilleke E; Ikeda, Masashi; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G; Jukema, J Wouter; Kahn, René S; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L; Lopez, Oscar L; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S; McDonald, Colm; McIntosh, Andrew M; McMahon, Francis J; McMahon, Katie L; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Mosley, Thomas H; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Nalls, Michael A; Nauck, Matthias; Nichols, Thomas E; Niessen, Wiro J; Nöthen, Markus M; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L; Ophoff, Roel A; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W J H; Pike, G Bruce; Potkin, Steven G; Psaty, Bruce M; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L; Romanczuk-Seiferth, Nina; Rotter, Jerome I; Ryten, Mina; Sacco, Ralph L; Sachdev, Perminder S; Saykin, Andrew J; Schmidt, Reinhold; Schmidt, Helena; Schofield, Peter R; Sigursson, Sigurdur; Simmons, Andrew; Singleton, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soininen, Hilkka; Steen, Vidar M; Stott, David J; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Tsolaki, Magda; Tzourio, Christophe; Uitterlinden, Andre G; Hernández, Maria C Valdés; Van der Brug, Marcel; van der Lugt, Aad; van der Wee, Nic J A; Van Haren, Neeltje E M; van 't Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N; Vellas, Bruno; Veltman, Dick J; Völzke, Henry; Walter, Henrik; Wardlaw, Joanna M; Wassink, Thomas H; Weale, Michael E; Weinberger, Daniel R; Weiner, Michael W; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y; Wright, Clinton B; Zielke, Ronald H; Zonderman, Alan B; Martin, Nicholas G; Van Duijn, Cornelia M; Wright, Margaret J; Longstreth, W T; Schumann, Gunter; Grabe, Hans J; Franke, Barbara; Launer, Lenore J; Medland, Sarah E; Seshadri, Sudha; Thompson, Paul M; Ikram, M Arfan

2017-01-18

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r g =-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.

Novel genetic loci associated with hippocampal volume

PubMed Central

Hibar, Derrek P.; Adams, Hieab H. H.; Jahanshad, Neda; Chauhan, Ganesh; Stein, Jason L.; Hofer, Edith; Renteria, Miguel E.; Bis, Joshua C.; Arias-Vasquez, Alejandro; Ikram, M. Kamran; Desrivières, Sylvane; Vernooij, Meike W.; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S.; Armstrong, Nicola J.; Athanasiu, Lavinia; Axelsson, Tomas; Beecham, Ashley H.; Beiser, Alexa; Bernard, Manon; Blanton, Susan H.; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brickman, Adam M.; Carmichael, Owen; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Chouraki, Vincent; Cuellar-Partida, Gabriel; Crivello, Fabrice; Den Braber, Anouk; Doan, Nhat Trung; Ehrlich, Stefan; Giddaluru, Sudheer; Goldman, Aaron L.; Gottesman, Rebecca F.; Grimm, Oliver; Griswold, Michael E.; Guadalupe, Tulio; Gutman, Boris A.; Hass, Johanna; Haukvik, Unn K.; Hoehn, David; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Jørgensen, Kjetil N.; Karbalai, Nazanin; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Liewald, David C. M.; Lopez, Lorna M.; Luciano, Michelle; Macare, Christine; Marquand, Andre F.; Matarin, Mar; Mather, Karen A.; Mattheisen, Manuel; McKay, David R.; Milaneschi, Yuri; Muñoz Maniega, Susana; Nho, Kwangsik; Nugent, Allison C.; Nyquist, Paul; Loohuis, Loes M. Olde; Oosterlaan, Jaap; Papmeyer, Martina; Pirpamer, Lukas; Pütz, Benno; Ramasamy, Adaikalavan; Richards, Jennifer S.; Risacher, Shannon L.; Roiz-Santiañez, Roberto; Rommelse, Nanda; Ropele, Stefan; Rose, Emma J.; Royle, Natalie A.; Rundek, Tatjana; Sämann, Philipp G.; Saremi, Arvin; Satizabal, Claudia L.; Schmaal, Lianne; Schork, Andrew J.; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V.; Sprooten, Emma; Strike, Lachlan T.; Teumer, Alexander; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Trompet, Stella; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Lee, Sven J.; Van der Meer, Dennis; Van Donkelaar, Marjolein M. J.; Van Eijk, Kristel R.; Van Erp, Theo G. M.; Van Rooij, Daan; Walton, Esther; Westlye, Lars T.; Whelan, Christopher D.; Windham, Beverly G.; Winkler, Anderson M.; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Yanek, Lisa R.; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P.; Agartz, Ingrid; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A.; Arepalli, Sampath; Assareh, Amelia A.; Barral, Sandra; Bastin, Mark E.; Becker, Diane M.; Becker, James T.; Bennett, David A.; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I.; Brodaty, Henry; Brouwer, Rachel M.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Bulayeva, Kazima B.; Cahn, Wiepke; Calhoun, Vince D.; Cannon, Dara M.; Cavalleri, Gianpiero L.; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R.; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E.; Czisch, Michael; Dale, Anders M.; Davies, Gareth E.; De Craen, Anton J. M.; De Geus, Eco J. C.; De Jager, Philip L.; De Zubicaray, Greig I.; Deary, Ian J.; Debette, Stéphanie; DeCarli, Charles; Delanty, Norman; Depondt, Chantal; DeStefano, Anita; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C.; Duggirala, Ravi; Dyer, Thomas D.; Enzinger, Christian; Erk, Susanne; Espeseth, Thomas; Fedko, Iryna O.; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E.; Fleischman, Debra A.; Ford, Ian; Fornage, Myriam; Foroud, Tatiana M.; Fox, Peter T.; Francks, Clyde; Fukunaga, Masaki; Gibbs, J. Raphael; Glahn, David C.; Gollub, Randy L.; Göring, Harald H. H.; Green, Robert C.; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Håberg, Asta K.; Hansell, Narelle K.; Hardy, John; Hartman, Catharina A.; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G.; Heslenfeld, Dirk J.; Ho, Beng-Choon; Hoekstra, Pieter J.; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Huentelman, Matthew; Pol, Hilleke E. Hulshoff; Ikeda, Masashi; Jack Jr, Clifford R.; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G.; Jukema, J. Wouter; Kahn, René S.; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L.; Lopez, Oscar L.; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S.; McDonald, Colm; McIntosh, Andrew M.; McMahon, Francis J.; McMahon, Katie L.; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W.; Morris, Derek W.; Mosley, Thomas H.; Mühleisen, Thomas W.; Müller-Myhsok, Bertram; Nalls, Michael A.; Nauck, Matthias; Nichols, Thomas E.; Niessen, Wiro J.; Nöthen, Markus M.; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L.; Ophoff, Roel A.; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W. J. H.; Pike, G. Bruce; Potkin, Steven G.; Psaty, Bruce M.; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L.; Romanczuk-Seiferth, Nina; Rotter, Jerome I.; Ryten, Mina; Sacco, Ralph L.; Sachdev, Perminder S.; Saykin, Andrew J.; Schmidt, Reinhold; Schmidt, Helena; Schofield, Peter R.; Sigursson, Sigurdur; Simmons, Andrew; Singleton, Andrew; Sisodiya, Sanjay M.; Smith, Colin; Smoller, Jordan W.; Soininen, Hilkka; Steen, Vidar M.; Stott, David J.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Tsolaki, Magda; Tzourio, Christophe; Uitterlinden, Andre G.; Hernández, Maria C. Valdés; Van der Brug, Marcel; van der Lugt, Aad; van der Wee, Nic J. A.; Van Haren, Neeltje E. M.; van 't Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N.; Vellas, Bruno; Veltman, Dick J.; Völzke, Henry; Walter, Henrik; Wardlaw, Joanna M.; Wassink, Thomas H.; Weale, Michael E.; Weinberger, Daniel R.; Weiner, Michael W.; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y.; Wright, Clinton B.; Zielke, Ronald H.; Zonderman, Alan B.; Martin, Nicholas G.; Van Duijn, Cornelia M.; Wright, Margaret J.; Longstreth, W. T.; Schumann, Gunter; Grabe, Hans J.; Franke, Barbara; Launer, Lenore J.; Medland, Sarah E.; Seshadri, Sudha; Thompson, Paul M.; Ikram, M. Arfan

2017-01-01

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg=−0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness. PMID:28098162

Spectral shifts of mammalian ultraviolet-sensitive pigments (short wavelength-sensitive opsin 1) are associated with eye length and photic niche evolution.

PubMed

Emerling, Christopher A; Huynh, Hieu T; Nguyen, Minh A; Meredith, Robert W; Springer, Mark S

2015-11-22

Retinal opsin photopigments initiate mammalian vision when stimulated by light. Most mammals possess a short wavelength-sensitive opsin 1 (SWS1) pigment that is primarily sensitive to either ultraviolet or violet light, leading to variation in colour perception across species. Despite knowledge of both ultraviolet- and violet-sensitive SWS1 classes in mammals for 25 years, the adaptive significance of this variation has not been subjected to hypothesis testing, resulting in minimal understanding of the basis for mammalian SWS1 spectral tuning evolution. Here, we gathered data on SWS1 for 403 mammal species, including novel SWS1 sequences for 97 species. Ancestral sequence reconstructions suggest that the most recent common ancestor of Theria possessed an ultraviolet SWS1 pigment, and that violet-sensitive pigments evolved at least 12 times in mammalian history. We also observed that ultraviolet pigments, previously considered to be a rarity, are common in mammals. We then used phylogenetic comparative methods to test the hypotheses that the evolution of violet-sensitive SWS1 is associated with increased light exposure, extended longevity and longer eye length. We discovered that diurnal mammals and species with longer eyes are more likely to have violet-sensitive pigments and less likely to possess UV-sensitive pigments. We hypothesize that (i) as mammals evolved larger body sizes, they evolved longer eyes, which limited transmittance of ultraviolet light to the retina due to an increase in Rayleigh scattering, and (ii) as mammals began to invade diurnal temporal niches, they evolved lenses with low UV transmittance to reduce chromatic aberration and/or photo-oxidative damage. © 2015 The Author(s).

Spectral shifts of mammalian ultraviolet-sensitive pigments (short wavelength-sensitive opsin 1) are associated with eye length and photic niche evolution

PubMed Central

Emerling, Christopher A.; Huynh, Hieu T.; Nguyen, Minh A.; Meredith, Robert W.; Springer, Mark S.

2015-01-01

Retinal opsin photopigments initiate mammalian vision when stimulated by light. Most mammals possess a short wavelength-sensitive opsin 1 (SWS1) pigment that is primarily sensitive to either ultraviolet or violet light, leading to variation in colour perception across species. Despite knowledge of both ultraviolet- and violet-sensitive SWS1 classes in mammals for 25 years, the adaptive significance of this variation has not been subjected to hypothesis testing, resulting in minimal understanding of the basis for mammalian SWS1 spectral tuning evolution. Here, we gathered data on SWS1 for 403 mammal species, including novel SWS1 sequences for 97 species. Ancestral sequence reconstructions suggest that the most recent common ancestor of Theria possessed an ultraviolet SWS1 pigment, and that violet-sensitive pigments evolved at least 12 times in mammalian history. We also observed that ultraviolet pigments, previously considered to be a rarity, are common in mammals. We then used phylogenetic comparative methods to test the hypotheses that the evolution of violet-sensitive SWS1 is associated with increased light exposure, extended longevity and longer eye length. We discovered that diurnal mammals and species with longer eyes are more likely to have violet-sensitive pigments and less likely to possess UV-sensitive pigments. We hypothesize that (i) as mammals evolved larger body sizes, they evolved longer eyes, which limited transmittance of ultraviolet light to the retina due to an increase in Rayleigh scattering, and (ii) as mammals began to invade diurnal temporal niches, they evolved lenses with low UV transmittance to reduce chromatic aberration and/or photo-oxidative damage. PMID:26582021

Phylogeography and genetic ancestry of tigers (Panthera tigris).

PubMed

Luo, Shu-Jin; Kim, Jae-Heup; Johnson, Warren E; van der Walt, Joelle; Martenson, Janice; Yuhki, Naoya; Miquelle, Dale G; Uphyrkina, Olga; Goodrich, John M; Quigley, Howard B; Tilson, Ronald; Brady, Gerald; Martelli, Paolo; Subramaniam, Vellayan; McDougal, Charles; Hean, Sun; Huang, Shi-Qiang; Pan, Wenshi; Karanth, Ullas K; Sunquist, Melvin; Smith, James L D; O'Brien, Stephen J

2004-12-01

Eight traditional subspecies of tiger (Panthera tigris),of which three recently became extinct, are commonly recognized on the basis of geographic isolation and morphological characteristics. To investigate the species' evolutionary history and to establish objective methods for subspecies recognition, voucher specimens of blood, skin, hair, and/or skin biopsies from 134 tigers with verified geographic origins or heritage across the whole distribution range were examined for three molecular markers: (1) 4.0 kb of mitochondrial DNA (mtDNA) sequence; (2) allele variation in the nuclear major histocompatibility complex class II DRB gene; and (3) composite nuclear microsatellite genotypes based on 30 loci. Relatively low genetic variation with mtDNA,DRB,and microsatellite loci was found, but significant population subdivision was nonetheless apparent among five living subspecies. In addition, a distinct partition of the Indochinese subspecies P. t. corbetti in to northern Indochinese and Malayan Peninsula populations was discovered. Population genetic structure would suggest recognition of six taxonomic units or subspecies: (1) Amur tiger P. t. altaica; (2) northern Indochinese tiger P. t. corbetti; (3) South China tiger P. t. amoyensis; (4) Malayan tiger P. t. jacksoni, named for the tiger conservationist Peter Jackson; (5) Sumatran tiger P. t. sumatrae; and (6) Bengal tiger P. t. tigris. The proposed South China tiger lineage is tentative due to limited sampling. The age of the most recent common ancestor for tiger mtDNA was estimated to be 72,000-108,000 y, relatively younger than some other Panthera species. A combination of population expansions, reduced gene flow, and genetic drift following the last genetic diminution, and the recent anthropogenic range contraction, have led to the distinct genetic partitions. These results provide an explicit basis for subspecies recognition and will lead to the improved management and conservation of these recently isolated but distinct geographic populations of tigers.

Transit timing at Toruń Center for Astronomy

NASA Astrophysics Data System (ADS)

Bykowski, W.; Maciejewski, G.

2011-01-01

The transit monitoring is one of well-known methods for discovering and observing new extrasolar planets. Among various advantages, this way of searching other worlds does not require complex and expensive equipment -- it can be performed with a relatively small telescope and high-quality CCD camera. At the Center for Astronomy of Nicolaus Copernicus University in Toruń, Poland, we collect observational data using the 60-cm Cassegrain telescope hoping that it would be possible to discover new objects in already known planetary systems using the transit timing variation method. Our observations are a part of a bigger cooperation between observatories from many countries.

Genetic variation of the porcine NR5A1 is associated with meat color.

PubMed

Görres, Andreas; Ponsuksili, Siriluck; Wimmers, Klaus; Muráni, Eduard

2016-02-01

Because of the central role of Steroidogenic factor 1 in the regulation of the development and function of steroidogenic tissues, including the adrenal gland, we chose the encoding gene NR5A1 as a candidate for stress response, meat quality and carcass composition in the domestic pig. To identify polymorphisms of the porcine NR5A1 we comparatively sequenced the coding, untranslated and regulatory regions in four commercial pig lines. Single nucleotide polymorphisms could be found in the 3' UTR and in an intronic enhancer, whereas no polymorphisms were detected in the proximal promoter and coding region. A subset of the detected polymorphisms was genotyped in Piétrain x (German Large White x German Landrace) and German Landrace pigs. For the same animals, carcass composition traits, meat quality characteristics and parameters of adrenal function were recorded. Associations with meat color were found for two of the discovered SNPs in Piétrain x (German Large White x German Landrace) and German Landrace pigs but no connections to parameters of adrenal function could be established. We conclude that NR5A1 variations influence meat color in a hypothalamus-pituitary-adrenal axis independent manner and that further regulatory regions need to be analyzed for genetic variations to understand the discovered effects.

Adaptation of metabolism and evaporative water loss along an aridity gradient.

PubMed Central

Tieleman, B Irene; Williams, Joseph B; Bloomer, Paulette

2003-01-01

Broad-scale comparisons of birds indicate the possibility of adaptive modification of basal metabolic rate (BMR) and total evaporative water loss (TEWL) in species from desert environments, but these might be confounded by phylogeny or phenotypic plasticity. This study relates variation in avian BMR and TEWL to a continuously varying measure of environment, aridity. We test the hypotheses that BMR and TEWL are reduced along an aridity gradient within the lark family (Alaudidae), and investigate the role of phylogenetic inertia. For 12 species of lark, BMR and TEWL decreased along a gradient of increasing aridity, a finding consistent with our proposals. We constructed a phylogeny for 22 species of lark based on sequences of two mitochondrial genes, and investigated whether phylogenetic affinity played a part in the correlation of phenotype and environment. A test for serial independence of the data for mass-corrected TEWL and aridity showed no influence of phylogeny on our findings. However, we did discover a significant phylogenetic effect in mass-corrected data for BMR, a result attributable to common phylogenetic history or to common ecological factors. A test of the relationship between BMR and aridity using phylogenetic independent constrasts was consistent with our previous analysis: BMR decreased with increasing aridity. PMID:12590762

Assessment of brain reference genes for RT-qPCR studies in neurodegenerative diseases

PubMed Central

Rydbirk, Rasmus; Folke, Jonas; Winge, Kristian; Aznar, Susana; Pakkenberg, Bente; Brudek, Tomasz

2016-01-01

Evaluation of gene expression levels by reverse transcription quantitative real-time PCR (RT-qPCR) has for many years been the favourite approach for discovering disease-associated alterations. Normalization of results to stably expressed reference genes (RGs) is pivotal to obtain reliable results. This is especially important in relation to neurodegenerative diseases where disease-related structural changes may affect the most commonly used RGs. We analysed 15 candidate RGs in 98 brain samples from two brain regions from Alzheimer’s disease (AD), Parkinson’s disease (PD), Multiple System Atrophy, and Progressive Supranuclear Palsy patients. Using RefFinder, a web-based tool for evaluating RG stability, we identified the most stable RGs to be UBE2D2, CYC1, and RPL13 which we recommend for future RT-qPCR studies on human brain tissue from these patients. None of the investigated genes were affected by experimental variables such as RIN, PMI, or age. Findings were further validated by expression analyses of a target gene GSK3B, known to be affected by AD and PD. We obtained high variations in GSK3B levels when contrasting the results using different sets of common RG underlining the importance of a priori validation of RGs for RT-qPCR studies. PMID:27853238

Assessment of brain reference genes for RT-qPCR studies in neurodegenerative diseases.

PubMed

Rydbirk, Rasmus; Folke, Jonas; Winge, Kristian; Aznar, Susana; Pakkenberg, Bente; Brudek, Tomasz

2016-11-17

Evaluation of gene expression levels by reverse transcription quantitative real-time PCR (RT-qPCR) has for many years been the favourite approach for discovering disease-associated alterations. Normalization of results to stably expressed reference genes (RGs) is pivotal to obtain reliable results. This is especially important in relation to neurodegenerative diseases where disease-related structural changes may affect the most commonly used RGs. We analysed 15 candidate RGs in 98 brain samples from two brain regions from Alzheimer's disease (AD), Parkinson's disease (PD), Multiple System Atrophy, and Progressive Supranuclear Palsy patients. Using RefFinder, a web-based tool for evaluating RG stability, we identified the most stable RGs to be UBE2D2, CYC1, and RPL13 which we recommend for future RT-qPCR studies on human brain tissue from these patients. None of the investigated genes were affected by experimental variables such as RIN, PMI, or age. Findings were further validated by expression analyses of a target gene GSK3B, known to be affected by AD and PD. We obtained high variations in GSK3B levels when contrasting the results using different sets of common RG underlining the importance of a priori validation of RGs for RT-qPCR studies.

Discovering shared segments on the migration route of the bar-headed goose by time-based plane-sweeping trajectory clustering

USGS Publications Warehouse

Luo, Ze; Baoping, Yan; Takekawa, John Y.; Prosser, Diann J.

2012-01-01

We propose a new method to help ornithologists and ecologists discover shared segments on the migratory pathway of the bar-headed geese by time-based plane-sweeping trajectory clustering. We present a density-based time parameterized line segment clustering algorithm, which extends traditional comparable clustering algorithms from temporal and spatial dimensions. We present a time-based plane-sweeping trajectory clustering algorithm to reveal the dynamic evolution of spatial-temporal object clusters and discover common motion patterns of bar-headed geese in the process of migration. Experiments are performed on GPS-based satellite telemetry data from bar-headed geese and results demonstrate our algorithms can correctly discover shared segments of the bar-headed geese migratory pathway. We also present findings on the migratory behavior of bar-headed geese determined from this new analytical approach.

Discovering regions of the bovine genome associated with variation in the immune response

USDA-ARS?s Scientific Manuscript database

Infectious disease of livestock continues to be a cause of substantial economic loss and adverse welfare. Breeding for disease resistant livestock could improve both the economic burden and animal welfare. Using genetic linkage and association methods, we aim to identify key genes and pathways that ...

Genome-wide interactions with dairy intake for body mass index in adults of European descent

USDA-ARS?s Scientific Manuscript database

Scope: Body weight responds variably to the intake of dairy foods. Genetic variation may contribute to inter-individual variability in associations between body weight and dairy consumption. Methods and results: We conducted a genome-wide interaction study to discover genetic variants that account f...

When Stones Teach.

ERIC Educational Resources Information Center

Lucier, Todd

2001-01-01

Creating towers of balanced stones is a versatile outdoor learning activity that can be experienced in the classroom, school yard, forest, or parking lot. Students discover hidden talents, learn to work and communicate clearly with others, and reconnect with the natural world. Several variations on the exercise are given, along with principles of…

Magnetohydrodynamic models of bipolar knotty jet in henize 2-90

NASA Technical Reports Server (NTRS)

Lee, C.; Sahai, R.

2004-01-01

A remarkably linear, bipolar, knotty jet was recently discovered in Hen 2-90, an object classified as a young planetary nebula. Using two-dimensional, magnetohydrodynamic simulations, we investigate periodic variations in jet density and velocity as the mechanism for producing the jet and its knotty structures.

Variation in the Oxytocin Receptor Gene Predicts Brain Region Specific Expression and Social Attachment

PubMed Central

King, Lanikea B.; Walum, Hasse; Inoue, Kiyoshi; Eyrich, Nicholas W.; Young, Larry J.

2015-01-01

Background Oxytocin (OXT) modulates several aspects of social behavior. Intranasal OXT is a leading candidate for treating social deficits in autism spectrum disorder (ASD) and common genetic variants in the human oxytocin receptor (OXTR) are associated with emotion recognition, relationship quality and ASD. Animal models have revealed that individual differences in Oxtr expression in the brain drive social behavior variation. Our understanding of how genetic variation contributes to brain OXTR expression is very limited. Methods We investigated Oxtr expression in monogamous prairie voles, which have a well characterized OXT system. We quantified brain region-specific levels of Oxtr mRNA and OXTR protein with established neuroanatomical methods. We used pyrosequencing to investigate allelic imbalance of Oxtr mRNA, a molecular signature of polymorphic genetic regulatory elements. We performed next-generation sequencing to discover variants in and near the Oxtr gene. We investigated social attachment using the partner preference test. Results Our allelic imbalance data demonstrates that genetic variants contribute to individual differences in Oxtr expression, but only in particular brain regions, including the nucleus accumbens (NAcc), where OXTR signaling facilitates social attachment. Next-generation sequencing identified one polymorphism in the Oxtr intron, near a putative cis-regulatory element, explaining 74% of the variance in striatal Oxtr expression specifically. Males homozygous for the high expressing allele display enhanced social attachment. Discussion Taken together, these findings provide convincing evidence for robust genetic influence on Oxtr expression and provide novel insights into how non-coding polymorphisms in the OXTR might influence individual differences in human social cognition and behavior PMID:26893121

Formative Assessment for the Common Core Literacy Standards

ERIC Educational Resources Information Center

Calfee, Robert; Wilson, Kathleen M.; Flannery, Brian; Kapinus, Barbara A.

2014-01-01

Background/Context: As implementation of the Common Core Literacy Standards moves ahead, teachers, students, and schools are discovering that the standards demand a great deal of them in order to achieve the vision of college, career, and citizenship in the global-digital world outlined in the standards. To accomplish the goals and high…

Discovering Common Ground: How Future Search Conferences Bring People Together To Achieve Breakthrough Innovation, Empowerment, Shared Vision, and Collaborative Action.

ERIC Educational Resources Information Center

Weisbord, Marvin R.; And Others

This book contains 35 papers about planning and holding future search conferences, as well as their benefits and likely future directions. The following papers are included: "Applied Common Sense" (Weisbord); "Inventing the Search Conference" (Weisbord); "Building Collaborative Communities" (Schindler-Rainman,…

The Situation of Women Who Teach in Universities: Contrasts and Common Ground.

ERIC Educational Resources Information Center

Sutherland, Margaret B.

1985-01-01

Interviews were conducted with 244 women teaching in universities in Finland, France, East Germany, West Germany, and Great Britain to discover causes for the minority position of women who teach in universities. Women's position appeared to depend not on characteristics of individual educational systems but on common factors--social attitudes,…

Genomic regions controlling shape variation in the first upper molar of the house mouse

PubMed Central

Pantalacci, Sophie; Turner, Leslie M; Steingrimsson, Eirikur; Renaud, Sabrina

2017-01-01

Numerous loci of large effect have been shown to underlie phenotypic variation between species. However, loci with subtle effects are presumably more frequently involved in microevolutionary processes but have rarely been discovered. We explore the genetic basis of shape variation in the first upper molar of hybrid mice between Mus musculus musculus and M. m. domesticus. We performed the first genome-wide association study for molar shape and used 3D surface morphometrics to quantify subtle variation between individuals. We show that many loci of small effect underlie phenotypic variation, and identify five genomic regions associated with tooth shape; one region contained the gene microphthalmia-associated transcription factor Mitf that has previously been associated with tooth malformations. Using a panel of five mutant laboratory strains, we show the effect of the Mitf gene on tooth shape. This is the first report of a gene causing subtle but consistent variation in tooth shape resembling variation in nature. PMID:29091026

Genetical genomics of Populus leaf shape variation

DOE PAGES

Drost, Derek R.; Puranik, Swati; Novaes, Evandro; ...

2015-06-30

Leaf morphology varies extensively among plant species and is under strong genetic control. Mutagenic screens in model systems have identified genes and established molecular mechanisms regulating leaf initiation, development, and shape. However, it is not known whether this diversity across plant species is related to naturally occurring variation at these genes. Quantitative trait locus (QTL) analysis has revealed a polygenic control for leaf shape variation in different species suggesting that loci discovered by mutagenesis may only explain part of the naturally occurring variation in leaf shape. Here we undertook a genetical genomics study in a poplar intersectional pseudo-backcross pedigree tomore » identify genetic factors controlling leaf shape. Here, the approach combined QTL discovery in a genetic linkage map anchored to the Populus trichocarpa reference genome sequence and transcriptome analysis.« less

Efficient and accurate causal inference with hidden confounders from genome-transcriptome variation data

PubMed Central

2017-01-01

Mapping gene expression as a quantitative trait using whole genome-sequencing and transcriptome analysis allows to discover the functional consequences of genetic variation. We developed a novel method and ultra-fast software Findr for higly accurate causal inference between gene expression traits using cis-regulatory DNA variations as causal anchors, which improves current methods by taking into consideration hidden confounders and weak regulations. Findr outperformed existing methods on the DREAM5 Systems Genetics challenge and on the prediction of microRNA and transcription factor targets in human lymphoblastoid cells, while being nearly a million times faster. Findr is publicly available at https://github.com/lingfeiwang/findr. PMID:28821014

Palmaris Longus Muscle's Prevalence in Different Nations and Interesting Anatomical Variations: Review of the Literature.

PubMed

Ioannis, Dimitriou; Anastasios, Katsourakis; Konstantinos, Natsis; Lazaros, Kostretzis; Georgios, Noussios

2015-11-01

The prevalence of the palmaris longus (PL) muscle varies more than any other muscle in the human body. Its absence across the world ranges between 1.5% and 63.9%. It presents with many different anomalies, discovered either clinically, intraoperatively or after anatomical examination of cadavers. This paper includes recent studies and reports about the presence and variations of the PL muscle, thereby illustrating the differences between ethnic groups, as well as emphasizing the different ways of finding it, during daily clinical and surgical practice.

Introduction to chemistry and applications in nature of mass independent isotope effects special feature.

PubMed

Thiemens, Mark H

2013-10-29

Stable isotope ratio variations are regulated by physical and chemical laws. These rules depend on a relation with mass differences between isotopes. New classes of isotope variation effects that deviate from mass dependent laws, termed mass independent isotope effects, were discovered in 1983 and have a wide range of applications in basic chemistry and nature. In this special edition, new applications of these effects to physical chemistry, solar system origin models, terrestrial atmospheric and biogenic evolution, polar paleo climatology, snowball earth geology, and present day atmospheric sciences are presented.

[Fahr syndrome discovered following a bacterial meningitis].

PubMed

Sbai, H; Smail, L; Hamdani, S; Essatara, Y; Harrandou, M; Khatouf, M; Kanjaa, N

2008-05-01

Fahr's disease refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcifications. The basal ganglia and dentate nucleus are the most common site of involvement and most cases present extrapyramidal symptoms. This disease is mostly associated with a phosphocalcic metabolism disorder, especially to hypoparathyroidism. The authors report a case of Fahr syndrome (FS) discovered when a young patient with hypocalcemia and bacterial meningitis had a cerebral CT scan disclosing intracerebral calcifications. She fully recovered after both meningitis and hypocalcemia were treated.

Discovering system requirements

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bahill, A.T.; Bentz, B.; Dean, F.F.

1996-07-01

Cost and schedule overruns are often caused by poor requirements that are produced by people who do not understand the requirements process. This report provides a high-level overview of the system requirements process, explaining types, sources, and characteristics of good requirements. System requirements, however, are seldom stated by the customer. Therefore, this report shows ways to help you work with your customer to discover the system requirements. It also explains terminology commonly used in the requirements development field, such as verification, validation, technical performance measures, and the various design reviews.

Extrasolar planets: constraints for planet formation models.

PubMed

Santos, Nuno C; Benz, Willy; Mayor, Michel

2005-10-14

Since 1995, more than 150 extrasolar planets have been discovered, most of them in orbits quite different from those of the giant planets in our own solar system. The number of discovered extrasolar planets demonstrates that planetary systems are common but also that they may possess a large variety of properties. As the number of detections grows, statistical studies of the properties of exoplanets and their host stars can be conducted to unravel some of the key physical and chemical processes leading to the formation of planetary systems.

Most genetic risk for autism resides with common variation

PubMed Central

Gaugler, Trent; Klei, Lambertus; Sanders, Stephan J.; Bodea, Corneliu A.; Goldberg, Arthur P.; Lee, Ann B.; Mahajan, Milind; Manaa, Dina; Pawitan, Yudi; Reichert, Jennifer; Ripke, Stephan; Sandin, Sven; Sklar, Pamela; Svantesson, Oscar; Reichenberg, Abraham; Hultman, Christina M.; Devlin, Bernie

2014-01-01

A key component of genetic architecture is the allelic spectrum influencing trait variability. For autism spectrum disorder (henceforth autism) the nature of its allelic spectrum is uncertain. Individual risk genes have been identified from rare variation, especially de novo mutations1–8. From this evidence one might conclude that rare variation dominates its allelic spectrum, yet recent studies show that common variation, individually of small effect, has substantial impact en masse9,10. At issue is how much of an impact relative to rare variation. Using a unique epidemiological sample from Sweden, novel methods that distinguish total narrow-sense heritability from that due to common variation, and by synthesizing results from other studies, we reach several conclusions about autism’s genetic architecture: its narrow-sense heritability is ≈54% and most traces to common variation; rare de novo mutations contribute substantially to individuals’ liability; still their contribution to variance in liability, 2.6%, is modest compared to heritable variation. PMID:25038753

A critical review of the measurement of ice adhesion to solid substrates

NASA Astrophysics Data System (ADS)

Work, Andrew; Lian, Yongsheng

2018-04-01

Ice adhesion is an issue spanning a wide range of technical fields. In the aerospace industry, ice accretion has led to a large number of casualties and costs the industry billions of dollars every year. To design effective anti-/de-icing systems, the adhesion of ice to surfaces must be understood. In this review paper, the authors surveyed for papers providing methods for the measurement of ice adhesion. 113 papers were identified for comparison, with data being extracted from 58 papers with common test surfaces (aluminum, steel, Teflon® (Chemours), and polyurethane). The methods used were categorized and data were compared based on their precision and the trends they demonstrated. Conceptual problems were identified with the tests used in the literature and discussed, and open questions relevant to testing the adhesion of ice were identified. Several key parameters affecting ice adhesion identified from the literature were temperature, surface roughness, strain rate, and impact velocity. Their effects on adhesion strength were discussed. While researching this topic, it was discovered that many papers did not report the strain rate in their tests, and the vast majority of papers did not correct their data for stress concentrations on the surface, either of which has been shown to cause variation in the data by one order of magnitude. Data compared from the literature typically spanned one to three orders of magnitude. The causes of these variations were discussed.

Gene flow in environmental Legionella pneumophila leads to genetic and pathogenic heterogeneity within a Legionnaires' disease outbreak.

PubMed

McAdam, Paul R; Vander Broek, Charles W; Lindsay, Diane S J; Ward, Melissa J; Hanson, Mary F; Gillies, Michael; Watson, Mick; Stevens, Joanne M; Edwards, Giles F; Fitzgerald, J Ross

2014-01-01

Legionnaires' disease is a severe form of pneumonia caused by the environmental bacterium Legionella pneumophila. Outbreaks commonly affect people with known risk factors, but the genetic and pathogenic complexity of L. pneumophila within an outbreak is not well understood. Here, we investigate the etiology of the major Legionnaires' disease outbreak that occurred in Edinburgh, UK, in 2012, by examining the evolutionary history, genome content, and virulence of L. pneumophila clinical isolates. Our high resolution genomic approach reveals that the outbreak was caused by multiple genetic subtypes of L. pneumophila, the majority of which had diversified from a single progenitor through mutation, recombination, and horizontal gene transfer within an environmental reservoir prior to release. In addition, we discover that some patients were infected with multiple L. pneumophila subtypes, a finding which can affect the certainty of source attribution. Importantly, variation in the complement of type IV secretion systems encoded by different genetic subtypes correlates with virulence in a Galleria mellonella model of infection, revealing variation in pathogenic potential among the outbreak source population of L. pneumophila. Taken together, our study indicates previously cryptic levels of pathogen heterogeneity within a Legionnaires' disease outbreak, a discovery that impacts on source attribution for future outbreak investigations. Furthermore, our data suggest that in addition to host immune status, pathogen diversity may be an important influence on the clinical outcome of individual outbreak infections.

Emitted Power of Jupiter Based on Cassini CIRS and VIMS Observations

NASA Technical Reports Server (NTRS)

Li, Liming; Baines, Kevin H.; Smith, Mark A.; West, Robert A.; Perez-Hoyos, Santiago; Trammel, Harold J.; Simon-Miller, Amy A.; Conrath, Barney J.; Gierasch, Peter J.; Orton, Glenn S.;

Emitted Power Of Jupiter Based On Cassini CIRS And VIMS Observations

NASA Technical Reports Server (NTRS)

Li, Liming; Baines, Kevin H.; Smith, Mark A.; West, Robert A.; Perez-Hoyos, Santiago; Trammel, Harold J.; Simon-Miller, Amy A.; Conrath, Barney J.; Gierasch, Peter J.; Orton, Glenn S.;

Population genetic analysis infers mMigration pathways of Phytophthora ramorum in US nurseries

Treesearch

Erica M. Goss; Meg Larsen; Gary A. Chastagner; Donald R. Givens; Niklaus J. Grünwald; Barbara Jane Howlett

2009-01-01

Recently introduced, exotic plant pathogens may exhibit low genetic diversity and be limited to clonal reproduction. However, rapidly mutating molecular markers such as microsatellites can reveal genetic variation within these populations and be used to model putative migration patterns. Phytophthora ramorum is the exotic pathogen, discovered in...

Transit Photometry of Recently Discovered Hot Jupiters

NASA Astrophysics Data System (ADS)

McCloat, Sean Peter

The University of North Dakota Space Studies Internet Observatory was used to observe the transits of hot Jupiter exoplanets. Targets for this research were selected from the list of currently confirmed exoplanets using the following criteria: radius > 0.5 Rjup, discovered since 2011, orbiting stars with apparent magnitude > 13. Eleven transits were observed distributed across nine targets with the goal of performing differential photometry for parameter refinement and transit timing variation analysis if data quality allowed. Data quality was ultimately insufficient for robust parameter refinement, but tentative calculations of mid-transit times were made of three of the observed transits. Mid-transit times for WASP-103b and WASP-48b were consistent with predictions and the existing database.

An unusual case of Y-shaped right renal vein.

PubMed

Lavy, M; Martin, L; Eouzan, D; Turco, C; Heyd, B; Mantion, G; Parratte, B; Tatu, L

2015-01-01

Vascular renal anomalies are frequent, multiple and well described and result from errors in vessel embryogenesis between the 6th and 10th week of gestation. Historically, variations are described in anatomic dissection and currently mostly in image interpretation. We report an anatomic variation concerning the right renal vein which, to our knowledge, has never been described in the literature either by dissection or by radiological examination. This variation was discovered during the routine dissection of an embalmed male body. It consists of a Y-shaped right renal vein and is associated with multiple retroperitoneal variations: a bilateral accessory renal artery, a trident ending of the right renal artery and a left testicular vein variation. Venous and arterial renal anatomy and its variations are fundamentally important in renal surgery, especially concerning living donor renal grafts. These variations may be diagnosed thanks to injected tomodensitometry which has a good sensitivity and specificity for anomalies. Preoperative diagnosis of an anatomic vascular renal variation may reduce morbidity during surgery, which is why precise examination of injected tomography should be mandatory.

Clasp/SJ Observation of Time Variations of Lyman-Alpha Emissions in a Solar Active Region

NASA Technical Reports Server (NTRS)

Ishikawa, S.; Kubo, M.; Katsukawa, Y.; Kano, R.; Narukage, N.; Ishikawa, R.; Bando, T.; Winebarger, A.; Kobayashi, K.; Trujillo Bueno, J.;

New insights into the genetics of glioblastoma multiforme by familial exome sequencing

PubMed Central

Backes, Christina; Harz, Christian; Fischer, Ulrike; Schmitt, Jana; Ludwig, Nicole; Petersen, Britt-Sabina; Mueller, Sabine C.; Kim, Yoo-Jin; Wolf, Nadine M.; Katus, Hugo A.; Meder, Benjamin; Furtwängler, Rhoikos; Franke, Andre; Bohle, Rainer; Henn, Wolfram; Graf, Norbert; Keller, Andreas; Meese, Eckart

2015-01-01

Glioblastoma multiforme (GBM) is the most aggressive and malignant subtype of human brain tumors. While a family clustering of GBM has long been acknowledged, relevant hereditary factors still remained elusive. Exome sequencing of families offers the option to discover respective genetic factors. We sequenced blood samples of one of the rare affected families: while both parents were healthy, both children were diagnosed with GBM. We report 85 homozygous non-synonymous single nucleotide variations (SNVs) in both siblings that were heterozygous in the parents. Beyond known key players for GBM such as ERBB2, PMS2, or CHI3L1, we identified over 50 genes that have not been associated to GBM so far. We also discovered three accumulative effects potentially adding to the tumorigenesis in the siblings: a clustering of multiple variants in single genes (e.g. PTPRB, CROCC), the aggregation of affected genes on specific molecular pathways (e.g. Focal adhesion or ECM receptor interaction) and genomic proximity (e.g. chr22.q12.2, chr1.p36.33). We found a striking accumulation of SNVs in specific genes for the daughter, who developed not only a GBM at the age of 12 years but was subsequently diagnosed with a pilocytic astrocytoma, a common acute lymphatic leukemia and a diffuse pontine glioma. The reported variants underline the relevance of genetic predisposition and cancer development in this family and demonstrate that GBM has a complex and heterogeneous genetic background. Sequencing of other affected families will help to further narrow down the driving genetic causes for this disease. PMID:25537509

Effects of enamel matrix genes on dental caries are moderated by fluoride exposures

PubMed Central

Shaffer, John R.; Carlson, Jenna C.; Stanley, Brooklyn O. C.; Feingold, Eleanor; Cooper, Margaret; Vanyukov, Michael M.; Maher, Brion S.; Slayton, Rebecca L.; Willing, Marcia C.; Reis, Steven E.; McNeil, Daniel W.; Crout, Richard J.; Weyant, Robert J.; Levy, Steven M.; Vieira, Alexandre R.; Marazita, Mary L.

2014-01-01

Dental caries (tooth decay) is the most common chronic disease, worldwide, affecting most children and adults. Though dental caries is highly heritable, few caries-related genes have been discovered. We investigated whether 18 genetic variants in the group of nonamelogenin enamel matrix genes (AMBN, ENAM, TUFT1, and TFIP11) were associated with dental caries experience in 13 age- and race-stratified samples from six parent studies (N=3,600). Linear regression was used to model genetic associations and test gene-byfluoride interaction effects for two sources of fluoride: daily tooth brushing and home water fluoride concentration. Meta-analysis was used to combine results across five child and eight adult samples. We observed the statistically significant association of rs2337359 upstream of TUFT1 with dental caries experience via meta-analysis across adult samples (p<0.002) and the suggestive association for multiple variants in TFIP11 across child samples (p<0.05). Moreover, we discovered two genetic variants (rs2337359 upstream of TUFT1 and missense rs7439186 in AMBN) involved in gene-by-fluoride interactions. For each interaction, participants with the risk allele/genotype exhibited greater dental caries experience only if they were not exposed to the source of fluoride. Altogether, these results confirm that variation in enamel matrix genes contributes to individual differences in dental caries liability, and demonstrate that the effects of these genes may be moderated by protective fluoride exposures. In short, genes may exert greater influence on dental caries in unprotected environments, or equivalently, the protective effects of fluoride may obviate the effects of genetic risk alleles. PMID:25373699

Native language governs interpretation of salient speech sound differences at 18 months

PubMed Central

Dietrich, Christiane; Swingley, Daniel; Werker, Janet F.

2007-01-01

One of the first steps infants take in learning their native language is to discover its set of speech-sound categories. This early development is shown when infants begin to lose the ability to differentiate some of the speech sounds their language does not use, while retaining or improving discrimination of language-relevant sounds. However, this aspect of early phonological tuning is not sufficient for language learning. Children must also discover which of the phonetic cues that are used in their language serve to signal lexical distinctions. Phonetic variation that is readily discriminable to all children may indicate two different words in one language but only one word in another. Here, we provide evidence that the language background of 1.5-year-olds affects their interpretation of phonetic variation in word learning, and we show that young children interpret salient phonetic variation in language-specific ways. Three experiments with a total of 104 children compared Dutch- and English-learning 18-month-olds' responses to novel words varying in vowel duration or vowel quality. Dutch learners interpreted vowel duration as lexically contrastive, but English learners did not, in keeping with properties of Dutch and English. Both groups performed equivalently when differentiating words varying in vowel quality. Thus, at one and a half years, children's phonological knowledge already guides their interpretation of salient phonetic variation. We argue that early phonological learning is not just a matter of maintaining the ability to distinguish language-relevant phonetic cues. Learning also requires phonological interpretation at appropriate levels of linguistic analysis. PMID:17911262

Wave behaviour of sporadic E-layer variations at the latitudes 30-70N

NASA Astrophysics Data System (ADS)

Ryabchenko, E. Yu.; Sherstyukov, O. N.

A wave behaviour of sporadic E-layer variations was investigated by analysing time series of twenty European ionosonde stations (30°N--80°N, 15°W--45°E) for 1985-1988. Wavelet transform was used to explore 3-30 periodicities in variations of Es-layer relative electron density δ NEs defined here as (foEs2--foE2)/foE2. Such compound parameter allowed us to partly exclude solar ionisation factor and concentrate on meteorological nature of Es-layer synoptical oscillations. A typical synoptical atmospheric 3-30 day oscillations were discovered in foEs and also in δ NEs. Due to nonorthgonal wavelet transform used in this work, it is advisable to divide frequency domain into several optimal intervals. Five periods 4,6,10,16 and 24 day were chosen which cover 3-5, 5-7, 8-12, 13-20 and 20-30 day intervals. Low value of oscillation amplitude not greater than 1.5 is typical for most of European ionospheric stations in January-March and September-December. A higher values were observed at latitudes higher than 60°N. A wave vortex were discovered during the analysis of dynamics of δ NEs spatio-temporal variations in summer for each period interval. In May and June we observed wave penetration from north and south into the middle latitudes 45°N--55°N with amplitudes up to 5.0 for the most of considered years. In Jule and August all amplitudes reach their average values.

Genetic and evolutionary analysis of the Drosophila larval neuromuscular junction

NASA Astrophysics Data System (ADS)

Campbell, Megan

Although evolution of brains and behaviors is of fundamental biological importance, we lack comprehensive understanding of the general principles governing these processes or the specific mechanisms and molecules through which the evolutionary changes are effected. Because synapses are the basic structural and functional units of nervous systems, one way to address these problems is to dissect the genetic and molecular pathways responsible for morphological evolution of a defined synapse. I have undertaken such an analysis by examining morphology of the larval neuromuscular junction (NMJ) in wild caught D. melanogaster as well as in over 20 other species of Drosophila. Whereas variation in NMJ morphology within a species is limited, I discovered a surprisingly extensive variation among different species. Compared with evolution of other morphological traits, NMJ morphology appears to be evolving very rapidly. Moreover, my data indicate that natural selection rather than genetic drift is primarily responsible for evolution of NMJ morphology. To dissect underlying molecular mechanisms that may govern NMJ growth and evolutionary divergence, I focused on a naturally occurring variant in D. melanogaster that causes NMJ overgrowth. I discovered that the variant mapped to Mob2, a gene encoding a kinase adapter protein originally described in yeast as a member of the Mitotic Exit Network (MEN). I have subsequently examined mutations in the Drosophila orthologs of all the core components of the yeast MEN and found that all of them function as part of a common pathway that acts presynaptically to negatively regulate NMJ growth. As in the regulation of yeast cytokinesis, these components of the MEN appear to act ultimately by regulating actin dynamics during the process of bouton growth and division. These studies have thus led to the discovery of an entirely new role for the MEN---regulation of synaptic growth---that is separate from its function in cell division. This work has identified a rich source of material for discovery of novel genes and mechanisms that regulate synaptic growth and development, and has also provided new insights into the mechanisms that underlie morphological evolution of nervous systems.

Copy number analysis reveals a novel multiexon deletion of the COLQ gene in congenital myasthenia.

PubMed

Wang, Wei; Wu, Yanhong; Wang, Chen; Jiao, Jinsong; Klein, Christopher J

2016-12-01

Congenital myasthenic syndrome (CMS) is genetically and clinically heterogeneous. 1 Despite a considerable number of causal genes discovered, many patients are left without a specific diagnosis after genetic testing. The presumption is that novel genes yet to be discovered will account for the majority of such patients. However, it is also possible that we are neglecting a type of genetic variation: copy number changes (>50 bp) as causal for some of these patients. Next-generation sequencing (NGS) can simultaneously screen all known causal genes 2 and is increasingly being validated to have a potential to identify copy number changes. 3 We present a CMS case who did not receive a genetic diagnosis from previous Sanger sequencing, but through a novel copy number analysis algorithm integrated into our targeted NGS panel, we discovered a novel copy number mutation in the COLQ gene and made a genetic diagnosis. This discovery expands the genotype-phenotype correlation of CMS, leads to improved genetic counsel, and allows for specific pharmacologic treatment. 1 .

Center for Inherited Disease Research (CIDR)

Cancer.gov

The Center for Inherited Disease Research (CIDR) Program at The Johns Hopkins University provides high-quality next generation sequencing and genotyping services to investigators working to discover genes that contribute to common diseases.

Common and separate origins of the left and right inferior phrenic artery with a review of the literature.

PubMed

Terayama, H; Yi, S-Q; Tanaka, O; Kanazawa, T; Suyama, K; Kosemura, N; Tetsu, S; Yamazaki, H; Sakamoto, R; Kawakami, S; Suzuki, T; Sakabe, K

2017-01-01

In a 94-year-old male cadaver, upon which routine dissection was being conducted, a rare variation was found in the gastrophrenic trunk (GPT), the common trunk of the left gastric artery (LGA), right inferior phrenic artery (RIPA), and left inferior phrenic artery (LIPA); the GPT arises from the abdominal aorta. A hepatosplenic trunk accompanied the variation. In this variation, the RIPA first branched from the GPT and then to the LIPA and LGA. Variations in the common trunk of the LIPA and RIPA in the GPT are common, but to our knowledge, a variation (separate inferior phrenic artery in the GPT) similar to our findings has not been previously reported. We discuss the incidence and developmental and clinical significance of this variation with a detailed review of the literature. Knowledge of such a case has important clinical significance for invasive and non-invasive arterial procedures. Therefore, different variations concerning the LGA and inferior phrenic artery should be considered during surgical and non-surgical evaluations.

Bit-Table Based Biclustering and Frequent Closed Itemset Mining in High-Dimensional Binary Data

PubMed Central

Király, András; Abonyi, János

2014-01-01

During the last decade various algorithms have been developed and proposed for discovering overlapping clusters in high-dimensional data. The two most prominent application fields in this research, proposed independently, are frequent itemset mining (developed for market basket data) and biclustering (applied to gene expression data analysis). The common limitation of both methodologies is the limited applicability for very large binary data sets. In this paper we propose a novel and efficient method to find both frequent closed itemsets and biclusters in high-dimensional binary data. The method is based on simple but very powerful matrix and vector multiplication approaches that ensure that all patterns can be discovered in a fast manner. The proposed algorithm has been implemented in the commonly used MATLAB environment and freely available for researchers. PMID:24616651

Differential analysis between somatic mutation and germline variation profiles reveals cancer-related genes.

PubMed

Przytycki, Pawel F; Singh, Mona

2017-08-25

A major aim of cancer genomics is to pinpoint which somatically mutated genes are involved in tumor initiation and progression. We introduce a new framework for uncovering cancer genes, differential mutation analysis, which compares the mutational profiles of genes across cancer genomes with their natural germline variation across healthy individuals. We present DiffMut, a fast and simple approach for differential mutational analysis, and demonstrate that it is more effective in discovering cancer genes than considerably more sophisticated approaches. We conclude that germline variation across healthy human genomes provides a powerful means for characterizing somatic mutation frequency and identifying cancer driver genes. DiffMut is available at https://github.com/Singh-Lab/Differential-Mutation-Analysis .

Pizza Again? On the Division of Polygons into Sections with a Common Origin

ERIC Educational Resources Information Center

Sinitsky, Ilya; Stupel, Moshe; Sinitsky, Marina

2018-01-01

The paper explores the division of a polygon into equal-area pieces using line segments originating at a common point. The mathematical background of the proposed method is very simple and belongs to secondary school geometry. Simple examples dividing a square into two, four or eight congruent pieces provide a starting point to discovering how to…

DNA Immunization

PubMed Central

Wang, Shixia; Lu, Shan

2013-01-01

DNA immunization was discovered in early 1990s and its use has been expanded from vaccine studies to a broader range of biomedical research, such as the generation of high quality polyclonal and monoclonal antibodies as research reagents. In this unit, three common DNA immunization methods are described: needle injection, electroporation and gene gun. In addition, several common considerations related to DNA immunization are discussed. PMID:24510291

Karrikin and cyanohydrin smoke signals provide clues to new endogenous plant signaling compounds.

PubMed

Flematti, Gavin R; Waters, Mark T; Scaffidi, Adrian; Merritt, David J; Ghisalberti, Emilio L; Dixon, Kingsley W; Smith, Steven M

2013-01-01

Two new types of signaling compounds have been discovered in wildfire smoke due to their ability to stimulate seed germination. The first discovered were karrikins, which share some structural similarity with the strigolactone class of plant hormones, and both signal through a common F-box protein. However, karrikins and strigolactones operate through otherwise distinct signaling pathways, each distinguished by a specific α/β hydrolase protein. Genetic analysis suggests that plants contain endogenous compounds that signal specifically through the karrikin pathway. The other active compounds discovered in smoke are cyanohydrins that release germination-stimulating cyanide upon hydrolysis. Cyanohydrins occur widely in plants and have a role in defense against other organisms, but an additional role in endogenous cyanide signaling should also now be considered.

On the Origin of Quasi-Periodic Temperature Variations in Kun-1 Well (Kunashir Island)

NASA Astrophysics Data System (ADS)

Demezhko, D. Yu.; Yurkov, A. K.

2017-12-01

The results of temperature monitoring in the 300-m kun-1 well (Kunashir Island) in 2011-2015 are considered. Quasi-periodic temperature variations with an amplitude of up to 0.3°C and a variation period of 14-26 h were added from November 2011 to the previously observed temperature variations caused by tidal deformations, free thermal convection, and deformation processes associated with the preparation and occurrence of tectonic earthquakes. Five cycles of such variations lasting from 2 to 6 months have been recorded. Each cycle was initiated by an earthquake with magnitude M > 2.5log( R), where R is the epicentral distance (km). According to their characteristics, the variations are unique and have not been described previously. Assumptions have been made about the possible connection of the registered variations with the inertial currents of the ocean or with hydrothermal processes in the Earth's subsurface. The phenomenon discovered requires further study not only as an object of fundamental science, but also as a feature of an earlier unknown type of geodynamic activity that can be a significant threat to the regional population.

Investigating Differences in Personality Traits and Academic Needs among Prepared and Underprepared First-Year College Students

ERIC Educational Resources Information Center

Melzer, Dawn K.; Grant, Ruth M.

2016-01-01

Research has discovered that underprepared students are more likely to exhibit an external locus of control and low self-efficacy than those considered prepared. What differences exist between prepared and underprepared college students that may account for the variation in college performance? The objective of this study was to explore…

Lunar and Planetary Science XXXV: Outer Solar System

NASA Technical Reports Server (NTRS)

2004-01-01

The session "Outer Solar System" included the following reports:New Data About Seasonal Variations of the North-South Asymmetry of Polarized Light of Jupiter; Appearance of Second Harmonic in the Jupiter Spectrum; Dynamics of Confined Liquid Mass, Spreading on Planet Surface; "Cassini" will Discover 116 New Satellites of Saturn!; Jupiter's Light Reflection Law;and Internal Structure Modelling of Europa.

Intraspecific variation in Fraxinus pennsylvanica responses to emerald ash borer (Agrilus planipennis)

Treesearch

J.L. Koch; D.W. Carey; M.E. Mason; T.M. Poland; K.S. Knight

2015-01-01

The emerald ash borer (EAB; Agrilus planipennis Fairmaire) is a bark and wood boring beetle native to east Asia that was first discovered in North America in 2002. Since then, entire stands of highly susceptible green ash (Fraxinus pennsylvanica Marshall) have been killed within a few years of infestation. We have identified a...

X-Ray Variability and the Secondary Star

NASA Technical Reports Server (NTRS)

Corcoran, M. F.; Ishibashi, K.

2012-01-01

We discuss the history of X-ray observations of the 11 Car system, concentrating on the periodic variability discovered in the 1990s. We discuss the interpretation of these variations, concentrating on a model of the system as a "collidingwind" binary. This interpretation allows the physical and orbital parameters of eta Car and its companion star to be constrained.

Discovering frequently recurring movement sequences in team-sport athlete spatiotemporal data.

PubMed

Sweeting, Alice J; Aughey, Robert J; Cormack, Stuart J; Morgan, Stuart

2017-12-01

Athlete external load is typically analysed from predetermined movement thresholds. The combination of movement sequences and differences in these movements between playing positions is also currently unknown. This study developed a method to discover the frequently recurring movement sequences across playing position during matches. The external load of 12 international female netball athletes was collected by a local positioning system during four national-level matches. Velocity, acceleration and angular velocity were calculated from positional (X, Y) data, clustered via one-dimensional k-means and assigned a unique alphabetic label. Combinations of velocity, acceleration and angular velocity movement were compared using the Levenshtein distance and similarities computed by the longest common substring problem. The contribution of each movement sequence, according to playing position and relative to the wider data set, was then calculated via the Minkowski distance. A total of 10 frequently recurring combinations of movement were discovered, regardless of playing position. Only the wing attack, goal attack and goal defence playing positions are closely related. We developed a technique to discover the movement sequences, according to playing position, performed by elite netballers. This methodology can be extended to discover the frequently recurring movements within other team sports and across levels of competition.

Genetic variation of the ghrelin activator gene ghrelin O-acyltransferase (GOAT) is associated with anorexia nervosa.

PubMed

Müller, Timo D; Tschöp, Matthias H; Jarick, Ivonne; Ehrlich, Stefan; Scherag, Susann; Herpertz-Dahlmann, Beate; Zipfel, Stefan; Herzog, Wolfgang; de Zwaan, Martina; Burghardt, Roland; Fleischhaker, Christian; Klampfl, Karin; Wewetzer, Christoph; Herpertz, Stephan; Zeeck, Almut; Tagay, Sefik; Burgmer, Markus; Pfluger, Paul T; Scherag, André; Hebebrand, Johannes; Hinney, Anke

2011-05-01

The gastrointestinal peptide hormone ghrelin promotes food intake and increases body weight and adiposity through activation of the growth hormone secretagogue receptor (GHSR1a). To promote its biological action ghrelin is acylated at its serine 3 residue by the recently discovered ghrelin O-acyltransferase (GOAT, a.k.a. membrane-bound O-acyltransferase 4, MBOAT4). Plasma levels of total and acyl-ghrelin are negatively correlated with body-mass-index (BMI); as lower the BMI as higher plasma levels of total and acylated ghrelin and vice versa. Accordingly, plasma levels of total and acyl-ghrelin are elevated in patients with anorexia nervosa (AN) and decline upon weight regain. The importance of the endogenous Goat/ghrelin system in the neuroendocrine adaptation to fasting was recently highlighted by the observation that acyl-ghrelin mediated elevation of growth hormone (GH) release prevents starvation induced hypoglycemia in Goat(-/-) mice. The aim of this study was to test if genetic variation of GOAT is implicated in the etiology of AN. We therefore assessed association of 6 tagging single nucleotide polymorphisms (tagSNPs), which were predicted to cover 96% the common genetic variability of GOAT plus 50 kb of the 5' and 3' flanking region, in 543 German patients with AN and 612 German normal and underweight healthy controls. Based on a recessive mode of inheritance we observed some evidence for association of the G/G genotype at SNP rs10096097 with AN (nominal two-sided p = 0.031). Based on our results we conclude that genetic variation in GOAT might be implicated in the etiology of AN. Copyright © 2010 Elsevier Ltd. All rights reserved.

Introduction to Chemistry and Applications in Nature of Mass Independent Isotope Effects Special Feature

PubMed Central

Thiemens, Mark H.

2013-01-01

Stable isotope ratio variations are regulated by physical and chemical laws. These rules depend on a relation with mass differences between isotopes. New classes of isotope variation effects that deviate from mass dependent laws, termed mass independent isotope effects, were discovered in 1983 and have a wide range of applications in basic chemistry and nature. In this special edition, new applications of these effects to physical chemistry, solar system origin models, terrestrial atmospheric and biogenic evolution, polar paleo climatology, snowball earth geology, and present day atmospheric sciences are presented. PMID:24167299

Feedback enhanced plasma spray tool

DOEpatents

Gevelber, Michael Alan; Wroblewski, Donald Edward; Fincke, James Russell; Swank, William David; Haggard, Delon C.; Bewley, Randy Lee

2005-11-22

An improved automatic feedback control scheme enhances plasma spraying of powdered material through reduction of process variability and providing better ability to engineer coating structure. The present inventors discovered that controlling centroid position of the spatial distribution along with other output parameters, such as particle temperature, particle velocity, and molten mass flux rate, vastly increases control over the sprayed coating structure, including vertical and horizontal cracks, voids, and porosity. It also allows improved control over graded layers or compositionally varying layers of material, reduces variations, including variation in coating thickness, and allows increasing deposition rate. Various measurement and system control schemes are provided.

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability.

PubMed

Hunt, Karen A; Mistry, Vanisha; Bockett, Nicholas A; Ahmad, Tariq; Ban, Maria; Barker, Jonathan N; Barrett, Jeffrey C; Blackburn, Hannah; Brand, Oliver; Burren, Oliver; Capon, Francesca; Compston, Alastair; Gough, Stephen C L; Jostins, Luke; Kong, Yong; Lee, James C; Lek, Monkol; MacArthur, Daniel G; Mansfield, John C; Mathew, Christopher G; Mein, Charles A; Mirza, Muddassar; Nutland, Sarah; Onengut-Gumuscu, Suna; Papouli, Efterpi; Parkes, Miles; Rich, Stephen S; Sawcer, Steven; Satsangi, Jack; Simmonds, Matthew J; Trembath, Richard C; Walker, Neil M; Wozniak, Eva; Todd, John A; Simpson, Michael A; Plagnol, Vincent; van Heel, David A

2013-06-13

Genome-wide association studies (GWAS) have identified common variants of modest-effect size at hundreds of loci for common autoimmune diseases; however, a substantial fraction of heritability remains unexplained, to which rare variants may contribute. To discover rare variants and test them for association with a phenotype, most studies re-sequence a small initial sample size and then genotype the discovered variants in a larger sample set. This approach fails to analyse a large fraction of the rare variants present in the entire sample set. Here we perform simultaneous amplicon-sequencing-based variant discovery and genotyping for coding exons of 25 GWAS risk genes in 41,911 UK residents of white European origin, comprising 24,892 subjects with six autoimmune disease phenotypes and 17,019 controls, and show that rare coding-region variants at known loci have a negligible role in common autoimmune disease susceptibility. These results do not support the rare-variant synthetic genome-wide-association hypothesis (in which unobserved rare causal variants lead to association detected at common tag variants). Many known autoimmune disease risk loci contain multiple, independently associated, common and low-frequency variants, and so genes at these loci are a priori stronger candidates for harbouring rare coding-region variants than other genes. Our data indicate that the missing heritability for common autoimmune diseases may not be attributable to the rare coding-region variant portion of the allelic spectrum, but perhaps, as others have proposed, may be a result of many common-variant loci of weak effect.

Human Variation in Short Regions Predisposed to Deep Evolutionary Conservation

PubMed Central

Loots, Gabriela G.; Ovcharenko, Ivan

2010-01-01

The landscape of the human genome consists of millions of short islands of conservation that are 100% conserved across multiple vertebrate genomes (termed “bricks”), the majority of which are located in noncoding regions. Several hundred thousand bricks are deeply conserved reaching the genomes of amphibians and fish. Deep phylogenetic conservation of noncoding DNA has been reported to be strongly associated with the presence of gene regulatory elements, introducing bricks as a proxy to the functional noncoding landscape of the human genome. Here, we report a significant overrepresentation of bricks in the promoters of transcription factors and developmental genes, where the high level of phylogenetic conservation correlates with an increase in brick overrepresentation. We also found that the presence of a brick dictates a predisposition to evolutionary constraint, with only 0.7% of the amniota brick central nucleotides being diverged within the primate lineage—an 11-fold reduction in the divergence rate compared with random expectation. Human single-nucleotide polymorphism (SNP) data explains only 3% of primate-specific variation in amniota bricks, thus arguing for a widespread fixation of brick mutations within the primate lineage and prior to human radiation. This variation, in turn, might have been utilized as a driving force for primate- and hominoid-specific adaptation. We also discovered a pronounced deviation from the evolutionary predisposition in the human lineage, with over 20-fold increase in the substitution rate at brick SNP sites over expected values. In addition, contrary to typical brick mutations, brick variation commonly encountered in the human population displays limited, if any, signatures of negative selection as measured by the minor allele frequency and population differentiation (F-statistical measure) measures. These observations argue for the plasticity of gene regulatory mechanisms in vertebrates—with evidence of strong purifying selection acting on the gene regulatory landscape of the human genome, where widespread advantageous mutations in putative regulatory elements are likely utilized in functional diversification and adaptation of species. PMID:20093432

Intraspecific morphological and genetic variation of common species predicts ranges of threatened ones

PubMed Central

Fuller, Trevon L.; Thomassen, Henri A.; Peralvo, Manuel; Buermann, Wolfgang; Milá, Borja; Kieswetter, Charles M.; Jarrín-V, Pablo; Devitt, Susan E. Cameron; Mason, Eliza; Schweizer, Rena M.; Schlunegger, Jasmin; Chan, Janice; Wang, Ophelia; Schneider, Christopher J.; Pollinger, John P.; Saatchi, Sassan; Graham, Catherine H.; Wayne, Robert K.; Smith, Thomas B.

2013-01-01

Predicting where threatened species occur is useful for making informed conservation decisions. However, because they are usually rare, surveying threatened species is often expensive and time intensive. Here, we show how regions where common species exhibit high genetic and morphological divergence among populations can be used to predict the occurrence of species of conservation concern. Intraspecific variation of common species of birds, bats and frogs from Ecuador were found to be a significantly better predictor for the occurrence of threatened species than suites of environmental variables or the occurrence of amphibians and birds. Fully 93 per cent of the threatened species analysed had their range adequately represented by the geographical distribution of the morphological and genetic variation found in seven common species. Both higher numbers of threatened species and greater genetic and morphological variation of common species occurred along elevation gradients. Higher levels of intraspecific divergence may be the result of disruptive selection and/or introgression along gradients. We suggest that collecting data on genetic and morphological variation in common species can be a cost effective tool for conservation planning, and that future biodiversity inventories include surveying genetic and morphological data of common species whenever feasible. PMID:23595273

Discovering Single Nucleotide Polymorphisms Regulating Human Gene Expression Using Allele Specific Expression from RNA-seq Data

PubMed Central

Kang, Eun Yong; Martin, Lisa J.; Mangul, Serghei; Isvilanonda, Warin; Zou, Jennifer; Ben-David, Eyal; Han, Buhm; Lusis, Aldons J.; Shifman, Sagiv; Eskin, Eleazar

2016-01-01

The study of the genetics of gene expression is of considerable importance to understanding the nature of common, complex diseases. The most widely applied approach to identifying relationships between genetic variation and gene expression is the expression quantitative trait loci (eQTL) approach. Here, we increased the computational power of eQTL with an alternative and complementary approach based on analyzing allele specific expression (ASE). We designed a novel analytical method to identify cis-acting regulatory variants based on genome sequencing and measurements of ASE from RNA-sequencing (RNA-seq) data. We evaluated the power and resolution of our method using simulated data. We then applied the method to map regulatory variants affecting gene expression in lymphoblastoid cell lines (LCLs) from 77 unrelated northern and western European individuals (CEU), which were part of the HapMap project. A total of 2309 SNPs were identified as being associated with ASE patterns. The SNPs associated with ASE were enriched within promoter regions and were significantly more likely to signal strong evidence for a regulatory role. Finally, among the candidate regulatory SNPs, we identified 108 SNPs that were previously associated with human immune diseases. With further improvements in quantifying ASE from RNA-seq, the application of our method to other datasets is expected to accelerate our understanding of the biological basis of common diseases. PMID:27765809

Targeting Common but Complex Proteoglycans on Breast Cancer Cells and Stem Cells Using Evolutionary Refined Malaria Proteins

DTIC Science & Technology

2015-11-01

AWARD NUMBER: W81XWH-13-1-0139 TITLE: Targeting Common but Complex Proteoglycans on Breast Cancer Cells and Stem Cells Using Evolutionary Refined...DATES COVERED 15Aug2013 - 14Aug2015 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER W81XWH-13-1-0139 Targeting Common but Complex Proteoglycans on...outbreaks in epidemic regions of the world. Prior to this application we discovered that human breast cancer cells express this same carbohydrate

An evaluation of the current state of genomic data privacy protection technology and a roadmap for the future.

PubMed

Malin, Bradley A

2005-01-01

The incorporation of genomic data into personal medical records poses many challenges to patient privacy. In response, various systems for preserving patient privacy in shared genomic data have been developed and deployed. Although these systems de-identify the data by removing explicit identifiers (e.g., name, address, or Social Security number) and incorporate sound security design principles, they suffer from a lack of formal modeling of inferences learnable from shared data. This report evaluates the extent to which current protection systems are capable of withstanding a range of re-identification methods, including genotype-phenotype inferences, location-visit patterns, family structures, and dictionary attacks. For a comparative re-identification analysis, the systems are mapped to a common formalism. Although there is variation in susceptibility, each system is deficient in its protection capacity. The author discovers patterns of protection failure and discusses several of the reasons why these systems are susceptible. The analyses and discussion within provide guideposts for the development of next-generation protection methods amenable to formal proofs.

An Evaluation of the Current State of Genomic Data Privacy Protection Technology and a Roadmap for the Future

PubMed Central

Malin, Bradley A.

2005-01-01

The incorporation of genomic data into personal medical records poses many challenges to patient privacy. In response, various systems for preserving patient privacy in shared genomic data have been developed and deployed. Although these systems de-identify the data by removing explicit identifiers (e.g., name, address, or Social Security number) and incorporate sound security design principles, they suffer from a lack of formal modeling of inferences learnable from shared data. This report evaluates the extent to which current protection systems are capable of withstanding a range of re-identification methods, including genotype–phenotype inferences, location–visit patterns, family structures, and dictionary attacks. For a comparative re-identification analysis, the systems are mapped to a common formalism. Although there is variation in susceptibility, each system is deficient in its protection capacity. The author discovers patterns of protection failure and discusses several of the reasons why these systems are susceptible. The analyses and discussion within provide guideposts for the development of next-generation protection methods amenable to formal proofs. PMID:15492030

A regional survey of malformed frogs in Minnesota (USA) (Minnesota malformed frogs).

PubMed

Vandenlangenberg, Susan M; Canfield, Jeffrey T; Magner, Joseph A

2003-02-01

In late 1995, school children discovered malformed frogs in a south central Minnesota pond. Press coverage resulted in numerous citizen reports of frog malformation across Minnesota in 1996. After some initial site investigation, 3 affected frog sites and 4 nearby reference sites were selected for more detailed evaluation. Field biologists made 89 visits to study sites beginning spring 1997 through fall 1999 to examine the number and type of frog malformations. Over 5,100 Leopard frogs (Rana pipiens) were captured and examined at all study sites. Water elevations and associated littoral inundation were recorded from 1997-2000. Results indicate that malformation occurred at all study sites above historical background levels. Rana pipiens malformation across all sites over three seasons averaged 7.9% and ranged from 0 to 7% at reference sites and 4 to 23% at affected sites. At one northern Minnesota site, mink frog (Rana septentrionalis) malformation was 75% in 1998. A site characteristic common to the most affected sites was an elastic zone of littoral inundation. Climate driven hydrologic variation likely influenced water depth and associated breeding locations.

Joint reconstruction of multiview compressed images.

PubMed

Thirumalai, Vijayaraghavan; Frossard, Pascal

2013-05-01

Distributed representation of correlated multiview images is an important problem that arises in vision sensor networks. This paper concentrates on the joint reconstruction problem where the distributively compressed images are decoded together in order to take benefit from the image correlation. We consider a scenario where the images captured at different viewpoints are encoded independently using common coding solutions (e.g., JPEG) with a balanced rate distribution among different cameras. A central decoder first estimates the inter-view image correlation from the independently compressed data. The joint reconstruction is then cast as a constrained convex optimization problem that reconstructs total-variation (TV) smooth images, which comply with the estimated correlation model. At the same time, we add constraints that force the reconstructed images to be as close as possible to their compressed versions. We show through experiments that the proposed joint reconstruction scheme outperforms independent reconstruction in terms of image quality, for a given target bit rate. In addition, the decoding performance of our algorithm compares advantageously to state-of-the-art distributed coding schemes based on motion learning and on the DISCOVER algorithm.

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

PubMed Central

Hildebrand, Michael S.; Phillips, A. Marie; Mullen, Saul A.; Adlard, Paul A.; Hardies, Katia; Damiano, John A.; Wimmer, Verena; Bellows, Susannah T.; McMahon, Jacinta M.; Burgess, Rosemary; Hendrickx, Rik; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Scheffer, Ingrid E.; Petrou, Steven; Berkovic, Samuel F.; Reid, Christopher A.

2015-01-01

Febrile seizures (FS) are the most common seizure syndrome and are potentially a prelude to more severe epilepsy. Although zinc (Zn2+) metabolism has previously been implicated in FS, whether or not variation in proteins essential for Zn2+ homeostasis contributes to susceptibility is unknown. Synaptic Zn2+ is co-released with glutamate and modulates neuronal excitability. SLC30A3 encodes the zinc transporter 3 (ZNT3), which is primarily responsible for moving Zn2+ into synaptic vesicles. Here we sequenced SLC30A3 and discovered a rare variant (c.892C > T; p.R298C) enriched in FS populations but absent in population-matched controls. Functional analysis revealed a significant loss-of-function of the mutated protein resulting from a trafficking deficit. Furthermore, mice null for ZnT3 were more sensitive than wild-type to hyperthermia-induced seizures that model FS. Together our data suggest that reduced synaptic Zn2+ increases the risk of FS and more broadly support the idea that impaired synaptic Zn2+ homeostasis can contribute to neuronal hyperexcitability. PMID:26647834

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures.

PubMed

Hildebrand, Michael S; Phillips, A Marie; Mullen, Saul A; Adlard, Paul A; Hardies, Katia; Damiano, John A; Wimmer, Verena; Bellows, Susannah T; McMahon, Jacinta M; Burgess, Rosemary; Hendrickx, Rik; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Scheffer, Ingrid E; Petrou, Steven; Berkovic, Samuel F; Reid, Christopher A

2015-12-09

Febrile seizures (FS) are the most common seizure syndrome and are potentially a prelude to more severe epilepsy. Although zinc (Zn(2+)) metabolism has previously been implicated in FS, whether or not variation in proteins essential for Zn(2+) homeostasis contributes to susceptibility is unknown. Synaptic Zn(2+) is co-released with glutamate and modulates neuronal excitability. SLC30A3 encodes the zinc transporter 3 (ZNT3), which is primarily responsible for moving Zn(2+) into synaptic vesicles. Here we sequenced SLC30A3 and discovered a rare variant (c.892C > T; p.R298C) enriched in FS populations but absent in population-matched controls. Functional analysis revealed a significant loss-of-function of the mutated protein resulting from a trafficking deficit. Furthermore, mice null for ZnT3 were more sensitive than wild-type to hyperthermia-induced seizures that model FS. Together our data suggest that reduced synaptic Zn(2+) increases the risk of FS and more broadly support the idea that impaired synaptic Zn(2+) homeostasis can contribute to neuronal hyperexcitability.

Indel variant analysis of short-read sequencing data with Scalpel

PubMed Central

Fang, Han; Bergmann, Ewa A; Arora, Kanika; Vacic, Vladimir; Zody, Michael C; Iossifov, Ivan; O’Rawe, Jason A; Wu, Yiyang; Barron, Laura T Jimenez; Rosenbaum, Julie; Ronemus, Michael; Lee, Yoon-ha; Wang, Zihua; Dikoglu, Esra; Jobanputra, Vaidehi; Lyon, Gholson J; Wigler, Michael; Schatz, Michael C; Narzisi, Giuseppe

2017-01-01

As the second most common type of variation in the human genome, insertions and deletions (indels) have been linked to many diseases, but the discovery of indels of more than a few bases in size from short-read sequencing data remains challenging. Scalpel (http://scalpel.sourceforge.net) is an open-source software for reliable indel detection based on the microassembly technique. It has been successfully used to discover mutations in novel candidate genes for autism, and it is extensively used in other large-scale studies of human diseases. This protocol gives an overview of the algorithm and describes how to use Scalpel to perform highly accurate indel calling from whole-genome and whole-exome sequencing data. We provide detailed instructions for an exemplary family-based de novo study, but we also characterize the other two supported modes of operation: single-sample and somatic analysis. Indel normalization, visualization and annotation of the mutations are also illustrated. Using a standard server, indel discovery and characterization in the exonic regions of the example sequencing data can be completed in ~5 h after read mapping. PMID:27854363

The Role of Constitutional Copy Number Variants in Breast Cancer

PubMed Central

Walker, Logan C.; Wiggins, George A.R.; Pearson, John F.

2015-01-01

Constitutional copy number variants (CNVs) include inherited and de novo deviations from a diploid state at a defined genomic region. These variants contribute significantly to genetic variation and disease in humans, including breast cancer susceptibility. Identification of genetic risk factors for breast cancer in recent years has been dominated by the use of genome-wide technologies, such as single nucleotide polymorphism (SNP)-arrays, with a significant focus on single nucleotide variants. To date, these large datasets have been underutilised for generating genome-wide CNV profiles despite offering a massive resource for assessing the contribution of these structural variants to breast cancer risk. Technical challenges remain in determining the location and distribution of CNVs across the human genome due to the accuracy of computational prediction algorithms and resolution of the array data. Moreover, better methods are required for interpreting the functional effect of newly discovered CNVs. In this review, we explore current and future application of SNP array technology to assess rare and common CNVs in association with breast cancer risk in humans. PMID:27600231

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

PubMed

Timpson, Nicholas J; Walter, Klaudia; Min, Josine L; Tachmazidou, Ioanna; Malerba, Giovanni; Shin, So-Youn; Chen, Lu; Futema, Marta; Southam, Lorraine; Iotchkova, Valentina; Cocca, Massimiliano; Huang, Jie; Memari, Yasin; McCarthy, Shane; Danecek, Petr; Muddyman, Dawn; Mangino, Massimo; Menni, Cristina; Perry, John R B; Ring, Susan M; Gaye, Amadou; Dedoussis, George; Farmaki, Aliki-Eleni; Burton, Paul; Talmud, Philippa J; Gambaro, Giovanni; Spector, Tim D; Smith, George Davey; Durbin, Richard; Richards, J Brent; Humphries, Steve E; Zeggini, Eleftheria; Soranzo, Nicole

2014-09-16

The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele frequency ~0.25% (UK)) associated with plasma triglyceride (TG) levels (-1.43 s.d. (s.e.=0.27 per minor allele (P-value=8.0 × 10(-8))) discovered in 3,202 individuals with low read-depth, whole-genome sequence. We replicate this in 12,831 participants from five additional samples of Northern and Southern European origin (-1.0 s.d. (s.e.=0.173), P-value=7.32 × 10(-9)). This is consistent with an effect between 0.5 and 1.5 mmol l(-1) dependent on population. We show that a single predicted splice donor variant is responsible for association signals and is independent of known common variants. Analyses suggest an independent relationship between rs138326449 and high-density lipoprotein (HDL) levels. This represents one of the first examples of a rare, large effect variant identified from whole-genome sequencing at a population scale.

Animal Mitochondrial DNA as We Do Not Know It: mt-Genome Organization and Evolution in Nonbilaterian Lineages

PubMed Central

Pett, Walker

2016-01-01

Abstract Animal mitochondrial DNA (mtDNA) is commonly described as a small, circular molecule that is conserved in size, gene content, and organization. Data collected in the last decade have challenged this view by revealing considerable diversity in animal mitochondrial genome organization. Much of this diversity has been found in nonbilaterian animals (phyla Cnidaria, Ctenophora, Placozoa, and Porifera), which, from a phylogenetic perspective, form the main branches of the animal tree along with Bilateria. Within these groups, mt-genomes are characterized by varying numbers of both linear and circular chromosomes, extra genes (e.g. atp9, polB, tatC), large variation in the number of encoded mitochondrial transfer RNAs (tRNAs) (0–25), at least seven different genetic codes, presence/absence of introns, tRNA and mRNA editing, fragmented ribosomal RNA genes, translational frameshifting, highly variable substitution rates, and a large range of genome sizes. This newly discovered diversity allows a better understanding of the evolutionary plasticity and conservation of animal mtDNA and provides insights into the molecular and evolutionary mechanisms shaping mitochondrial genomes. PMID:27557826

Personalized biochemistry and biophysics.

PubMed

Kroncke, Brett M; Vanoye, Carlos G; Meiler, Jens; George, Alfred L; Sanders, Charles R

2015-04-28

Whole human genome sequencing of individuals is becoming rapid and inexpensive, enabling new strategies for using personal genome information to help diagnose, treat, and even prevent human disorders for which genetic variations are causative or are known to be risk factors. Many of the exploding number of newly discovered genetic variations alter the structure, function, dynamics, stability, and/or interactions of specific proteins and RNA molecules. Accordingly, there are a host of opportunities for biochemists and biophysicists to participate in (1) developing tools to allow accurate and sometimes medically actionable assessment of the potential pathogenicity of individual variations and (2) establishing the mechanistic linkage between pathogenic variations and their physiological consequences, providing a rational basis for treatment or preventive care. In this review, we provide an overview of these opportunities and their associated challenges in light of the current status of genomic science and personalized medicine, the latter often termed precision medicine.

Personalized Biochemistry and Biophysics

PubMed Central

2016-01-01

Whole human genome sequencing of individuals is becoming rapid and inexpensive, enabling new strategies for using personal genome information to help diagnose, treat, and even prevent human disorders for which genetic variations are causative or are known to be risk factors. Many of the exploding number of newly discovered genetic variations alter the structure, function, dynamics, stability, and/or interactions of specific proteins and RNA molecules. Accordingly, there are a host of opportunities for biochemists and biophysicists to participate in (1) developing tools to allow accurate and sometimes medically actionable assessment of the potential pathogenicity of individual variations and (2) establishing the mechanistic linkage between pathogenic variations and their physiological consequences, providing a rational basis for treatment or preventive care. In this review, we provide an overview of these opportunities and their associated challenges in light of the current status of genomic science and personalized medicine, the latter often termed precision medicine. PMID:25856502

Magnetospheric Effects during the Approach of the Chelyabinsk Meteoroid

NASA Astrophysics Data System (ADS)

Chernogor, L. F.

2018-03-01

We have analyzed the observational results for variations in the main geomagnetic field and its fluctuations in the range of periods 1-1000 s that accompanied the approach of the Chelyabinsk space body to the magnetosphere and ionosphere of the Earth. The measurements were conducted with a magnetometerfluxmeter near the city of Kharkiv, as well as with the network of magnetometers located at the observatories of Novosibirsk, Kyiv, Lviv, Almaty, Khabarovsk, Arti, Borok, and Yakutsk. Variations in the main geomagnetic field and its fluctuations approximately 33-47 min prior to the explosion of the Chelyabinsk meteoroid have been discovered; they persisted for 25-35 min and were probably associated with meteoroid passage through the magnetosphere. The amplitude of variations reached 1-6 nT. We have proposed a model of the generation of aperiodic, quasi-periodic, and noise-like variations in the geomagnetic field induced by the approach of a space body.

Observation of subsecond variations in auroral region total electron content using 100 Hz sampling of GPS observables

NASA Astrophysics Data System (ADS)

McCaffrey, A. M.; Jayachandran, P. T.

2017-06-01

First ever auroral region total electron content (TEC) measurements at 100 Hz using a Septentrio PolaRxS Pro receiver are analyzed to discover ionospheric signatures which would otherwise be unobtainable with the frequently used lower sampling rates. Two types of variations are observed: small-magnitude (amplitude) variations, which are present consistently throughout the data set, and larger-magnitude (amplitude) variations, which are less frequent. Small-amplitude TEC fluctuations are accounted for by the receiver phase jitter. However, estimated secondary ionospheric effects in the calculation of TEC and the receiver phase jitter were unable to account for the larger-amplitude TEC fluctuations. These variations are also accompanied by fluctuations in the magnetic field, which seems to indicate that these fluctuations are real and of geophysical significance. This paper presents a technique and the capability of high-rate TEC measurements in the study of auroral dynamics. Further detailed study is needed to identify the cause of these subsecond TEC fluctuations and associated magnetic field fluctuations.

Chapter 2: A historical perspective on the population decline of the cactus ferruginous pygmy-owl in Arizona

Treesearch

R. Roy Johnson; Jean-Luc E. Cartron; Lois T. Haight; Russell B. Duncan; Kenneth J. Kingsley

2000-01-01

The cactus ferruginous pygmy-owl (Glaucidium brasilianum cactorum) was discovered in the U.S. by Bendire in 1872 in the Tucson area (Coues 1872). During the next five decades, naturalists collected many specimens of this owl and typically described the subspecies as common or fairly common along some streams and rivers of central and southern Arizona...

Pizza again? On the division of polygons into sections with a common origin

NASA Astrophysics Data System (ADS)

Sinitsky, Ilya; Stupel, Moshe; Sinitsky, Marina

2018-02-01

The paper explores the division of a polygon into equal-area pieces using line segments originating at a common point. The mathematical background of the proposed method is very simple and belongs to secondary school geometry. Simple examples dividing a square into two, four or eight congruent pieces provide a starting point to discovering how to divide a regular polygon into any number of equal-area pieces using line segments originating from the centre. Moreover, it turns out that there are infinite ways to do the division. Discovering the basic invariant involved allows application of the same procedure to divide any tangential polygon, as after suitable adjustment, it can be used also for rectangles and parallelograms. Further generalization offers many additional solutions of the problem, and some of them are presented for the case of an arbitrary triangle and a square. Links to dynamic demonstrations in GeoGebra serve to illustrate the main results.

Violent flickering in Black Holes

NASA Astrophysics Data System (ADS)

2008-10-01

Unique observations of the flickering light from the surroundings of two black holes provide new insights into the colossal energy that flows at their hearts. By mapping out how well the variations in visible light match those in X-rays on very short timescales, astronomers have shown that magnetic fields must play a crucial role in the way black holes swallow matter. Flickering black hole ESO PR Photo 36/08 Flickering black hole Like the flame from a candle, light coming from the surroundings of a black hole is not constant -- it flares, sputters and sparkles. "The rapid flickering of light from a black hole is most commonly observed at X-ray wavelengths," says Poshak Gandhi, who led the international team that reports these results. "This new study is one of only a handful to date that also explore the fast variations in visible light, and, most importantly how these fluctuations relate to those in X-rays." The observations tracked the shimmering of the black holes simultaneously using two different instruments, one on the ground and one in space. The X-ray data were taken using NASA's Rossi X-ray Timing Explorer satellite. The visible light was collected with the high speed camera ULTRACAM, a visiting instrument at ESO's Very Large Telescope (VLT), recording up to 20 images a second. ULTRACAM was developed by team members Vik Dhillon and Tom Marsh. "These are among the fastest observations of a black hole ever obtained with a large optical telescope," says Dhillon. To their surprise, astronomers discovered that the brightness fluctuations in the visible light were even more rapid than those seen in X-rays. In addition, the visible-light and X-ray variations were found not to be simultaneous, but to follow a repeated and remarkable pattern: just before an X-ray flare the visible light dims, and then surges to a bright flash for a tiny fraction of a second before rapidly decreasing again. None of this radiation emerges directly from the black hole, but from the intense energy flows of electrically charged matter in its vicinity. The environment of a black hole is constantly being reshaped by a riotous mêlée of strong and competing forces such as gravity, magnetism and explosive pressure. As a result, light emitted by the hot flows of matter varies in brightness in a muddled and haphazard way. "But the pattern found in this new study possesses a stable structure that stands out amidst an otherwise chaotic variability, and so, it can yield vital clues about the dominant underlying physical processes in action," says team member Andy Fabian. The visible-light emission from the neighbourhoods of black holes was widely thought to be a secondary effect, with a primary X-ray outburst illuminating the surrounding gas that subsequently shone in the visible range. But if this were so, any visible-light variations would lag behind the X-ray variability, and would be much slower to peak and fade away. "The rapid visible-light flickering now discovered immediately rules out this scenario for both systems studied," asserts Gandhi. "Instead the variations in the X-ray and visible light output must have some common origin, and one very close to the black hole itself." Strong magnetic fields represent the best candidate for the dominant physical process. Acting as a reservoir, they can soak up the energy released close to the black hole, storing it until it can be discharged either as hot (multi-million degree) X-ray emitting plasma, or as streams of charged particles travelling at close to the speed of light. The division of energy into these two components can result in the characteristic pattern of X-ray and visible-light variability.

A genome-wide association study of seed composition traits in wild soybean (Glycine soja).

PubMed

Leamy, Larry J; Zhang, Hengyou; Li, Changbao; Chen, Charles Y; Song, Bao-Hua

2017-01-05

Cultivated soybean (Glycine max) is a major agricultural crop that provides a crucial source of edible protein and oil. Decreased amounts of saturated palmitic acid and increased amounts of unsaturated oleic acid in soybean oil are considered optimal for human cardiovascular health and therefore there has considerable interest by breeders in discovering genes affecting the relative concentrations of these fatty acids. Using a genome-wide association (GWA) approach with nearly 30,000 single nucleotide polymorphisms (SNPs), we investigated the genetic basis of protein, oil and all five fatty acid levels in seeds from a sample of 570 wild soybeans (Glycine soja), the progenitor of domesticated soybean, to identify quantitative trait loci (QTLs) affecting these seed composition traits. We discovered 29 SNPs located on ten different chromosomes that are significantly associated with the seven seed composition traits in our wild soybean sample. Eight SNPs co-localized with QTLs previously uncovered in linkage or association mapping studies conducted with cultivated soybean samples, while the remaining SNPs appeared to be in novel locations. Twenty-four of the SNPs significantly associated with fatty acid variation, with the majority located on chromosomes 14 (6 SNPs) and seven (8 SNPs). Two SNPs were common for two or more fatty acids, suggesting loci with pleiotropic effects. We also identified some candidate genes that are involved in fatty acid metabolism and regulation. For each of the seven traits, most of the SNPs produced differences between the average phenotypic values of the two homozygotes of about one-half standard deviation and contributed over 3% of their total variability. This is the first GWA study conducted on seed composition traits solely in wild soybean populations, and a number of QTLs were found that have not been previously discovered. Some of these may be useful to breeders who select for increased protein/oil content or altered fatty acid ratios in the seeds. The results also provide additional insight into the genetic architecture of these traits in a large sample of wild soybean, and suggest some new candidate genes whose molecular effects on these traits need to be further studied.

The orbital record in stratigraphy

NASA Technical Reports Server (NTRS)

Fischer, Alfred G.

1992-01-01

Orbital signals are being discovered in pre-Pleistocene sediments. Due to their hierarchical nature these cycle patterns are complex, and the imprecision of geochronology generally makes the assignment of stratigraphic cycles to specific orbital cycles uncertain, but in sequences such as the limnic Newark Group under study by Olsen and pelagic Cretaceous sequence worked on by our Italo-American group the relative frequencies yield a definitive match to the Milankovitch hierarchy. Due to the multiple ways in which climate impinges on depositional systems, the orbital signals are recorded in a multiplicity of parameters, and affect different sedimentary facies in different ways. In platform carbonates, for example, the chief effect is via sea-level variations (possibly tied to fluctuating ice volume), resulting in cycles of emergence and submergence. In limnic systems it finds its most dramatic expression in alternations of lake and playa conditions. Biogenic pelagic oozes such as chalks and the limestones derived from them display variations in the carbonate supplied by planktonic organisms such as coccolithophores and foraminifera, and also record variations in the aeration of bottom waters. Whereas early studies of stratigraphic cyclicity relied mainly on bedding variations visible in the field, present studies are supplementing these with instrumental scans of geochemical, paleontological, and geophysical parameters which yield quantitative curves amenable to time-series analysis; such analysis is, however, limited by problems of distorted time-scales. My own work has been largely concentrated on pelagic systems. In these, the sensitivity of pelagic organisms to climatic-oceanic changes, combined with the sensitivity of botton life to changes in oxygen availability (commonly much more restricted in the Past than now) has left cyclic patterns related to orbital forcing. These systems are further attractive because (1) they tend to offer depositional continuity, and (2) presence of abundant microfossils yields close ties to geochronology. A tantalizing possibility that stratigraphy may yield a record of orbital signals unrelated to climate has turned up in magnetic studies of our Cretaceous core. Magnetic secular variations here carry a strong 39 ka periodicity, corresponding to the theoretical obliquity period of that time - Does the obliquity cycle perhaps have some direct influence on the magnetic field?

Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype

PubMed Central

Kim, Kyung-Seon; Kim, Ghi-Su; Hwang, Joo-Yeon; Lee, Hye-Ja; Park, Mi-Hyun; Kim, Kwang-joong; Jung, Jongsun; Cha, Hyo-Soung; Shin, Hyoung Doo; Kang, Jong-Ho; Park, Eui Kyun; Kim, Tae-Ho; Hong, Jung-Min; Koh, Jung-Min; Oh, Bermseok; Kimm, Kuchan; Kim, Shin-Yoon; Lee, Jong-Young

2007-01-01

Background Osteoporosis is defined as the loss of bone mineral density that leads to bone fragility with aging. Population-based case-control studies have identified polymorphisms in many candidate genes that have been associated with bone mass maintenance or osteoporotic fracture. To investigate single nucleotide polymorphisms (SNPs) that are associated with osteoporosis, we examined the genetic variation among Koreans by analyzing 81 genes according to their function in bone formation and resorption during bone remodeling. Methods We resequenced all the exons, splice junctions and promoter regions of candidate osteoporosis genes using 24 unrelated Korean individuals. Using the common SNPs from our study and the HapMap database, a statistical analysis of deviation in heterozygosity depicted. Results We identified 942 variants, including 888 SNPs, 43 insertion/deletion polymorphisms, and 11 microsatellite markers. Of the SNPs, 557 (63%) had been previously identified and 331 (37%) were newly discovered in the Korean population. When compared SNPs in the Korean population with those in HapMap database, 1% (or less) of SNPs in the Japanese and Chinese subpopulations and 20% of those in Caucasian and African subpopulations were significantly differentiated from the Hardy-Weinberg expectations. In addition, an analysis of the genetic diversity showed that there were no significant differences among Korean, Han Chinese and Japanese populations, but African and Caucasian populations were significantly differentiated in selected genes. Nevertheless, in the detailed analysis of genetic properties, the LD and Haplotype block patterns among the five sub-populations were substantially different from one another. Conclusion Through the resequencing of 81 osteoporosis candidate genes, 118 unknown SNPs with a minor allele frequency (MAF) > 0.05 were discovered in the Korean population. In addition, using the common SNPs between our study and HapMap, an analysis of genetic diversity and deviation in heterozygosity was performed and the polymorphisms of the above genes among the five populations were substantially differentiated from one another. Further studies of osteoporosis could utilize the polymorphisms identified in our data since they may have important implications for the selection of highly informative SNPs for future association studies. PMID:18036257

Talking to Strangers--A Sociolinguistic Experiment: Variation in Initial Dyadic Interactions between Spanish-Speakers in Early 21st Century Buenos Aires, Argentina

ERIC Educational Resources Information Center

Dziugis, Mary Ann

2010-01-01

What are the chances of a dyad of Spanish-speaking strangers using informal address in casual, initial interactions in Buenos Aires, Argentina, today? To discover the pattern(s) of contemporary address, the Principal Investigator (PI) conducted a sociolinguistic experiment focusing on strangers' initial interactions to minimize the influence of…

A Grounded Theory of Adolescent High School Women's Choir Singers' Process of Social Identity Development

ERIC Educational Resources Information Center

Parker, Elizabeth Cassidy

2018-01-01

The purpose of this grounded theory study was to discover the process of social identity development for adolescent high school women's choir participants. Purposive maximum variation sampling was used to identify three public high school women's choirs where 54 interviews were conducted with 40 different public school singers. Three waves of data…

Characterization of Field Line Topologies Near the Magnetopause Using Electron Pitch Angle Measurements

NASA Astrophysics Data System (ADS)

Payne, D.; Argall, M. R.; Dors, I.; Ergun, R.; Farrugia, C. J.; Giles, B. L.; Russell, C.; Torbert, R. B.; Vaith, H.; Magnes, W.

2016-12-01

The electron drift instrument (EDI) on the Magnetospheric Multiscale (MMS) mission detects 0 and 180 degree pitch angle electrons on millisecond timescales. Using this data, we observe rapid variation of these electron fluxes in regions close to the magnetopause boundary. These variations in flux provide key insights into the dynamic field line configurations that arise from reconnection. These variations in the field detected by the spacecraft may be indicative of rapid reconnection or oscillations in the position of the boundary itself. By investigating these fluctuations near the magnetopause, we may be able to discover which of these processes, if any, are occurring. The results of this investigation may provide further insight into the process of reconnection and its effect on magnetic field topologies in the magnetosphere.

Short and long periodic atmospheric variations between 25 and 200 km

NASA Technical Reports Server (NTRS)

Justus, C. G.; Woodrum, A.

1973-01-01

Previously collected data on atmospheric pressure, density, temperature and winds between 25 and 200 km from sources including Meteorological Rocket Network data, ROBIN falling sphere data, grenade release and pitot tube data, meteor winds, chemical release winds, satellite data, and others were analyzed by a daily difference method and results on the distribution statistics, magnitude, and spatial structure of gravity wave and planetary wave atmospheric variations are presented. Time structure of the gravity wave variations were determined by the analysis of residuals from harmonic analysis of time series data. Planetary wave contributions in the 25-85 km range were discovered and found to have significant height and latitudinal variation. Long period planetary waves, and seasonal variations were also computed by harmonic analysis. Revised height variations of the gravity wave contributions in the 25 to 85 km height range were computed. An engineering method and design values for gravity wave magnitudes and wave lengths are given to be used for such tasks as evaluating the effects on the dynamical heating, stability and control of spacecraft such as the space shuttle vehicle in launch or reentry trajectories.

Micro-scale environmental variation amplifies physiological variation among individual mussels.

PubMed

Jimenez, Ana Gabriela; Jayawardene, Sarah; Alves, Shaina; Dallmer, Jeremiah; Dowd, W Wesley

2015-12-07

The contributions of temporal and spatial environmental variation to physiological variation remain poorly resolved. Rocky intertidal zone populations are subjected to thermal variation over the tidal cycle, superimposed with micro-scale variation in individuals' body temperatures. Using the sea mussel (Mytilus californianus), we assessed the consequences of this micro-scale environmental variation for physiological variation among individuals, first by examining the latter in field-acclimatized animals, second by abolishing micro-scale environmental variation via common garden acclimation, and third by restoring this variation using a reciprocal outplant approach. Common garden acclimation reduced the magnitude of variation in tissue-level antioxidant capacities by approximately 30% among mussels from a wave-protected (warm) site, but it had no effect on antioxidant variation among mussels from a wave-exposed (cool) site. The field-acclimatized level of antioxidant variation was restored only when protected-site mussels were outplanted to a high, thermally stressful site. Variation in organismal oxygen consumption rates reflected antioxidant patterns, decreasing dramatically among protected-site mussels after common gardening. These results suggest a highly plastic relationship between individuals' genotypes and their physiological phenotypes that depends on recent environmental experience. Corresponding context-dependent changes in the physiological mean-variance relationships within populations complicate prediction of responses to shifts in environmental variability that are anticipated with global change. © 2015 The Author(s).

Case Report: Laparoscopic Approach for Orchiopexy in a 26-Year-Old Man with Accidentally Discovered Persistent Müllerian Duct Syndrome and Bilateral Undescended Testis.

PubMed

Noureldin, Mohamed Essam; Tawfik, Ahmed Mohamed; Shaker, Hassan S

2018-01-01

Background: Persistent Müllerian duct syndrome (PMDS) is not a common form of disorder of sex development in which Müllerian duct derivatives (fallopian tubes, uterus, and the proximal vagina) are present in an otherwise normally differentiated 46 XY male. In most of cases, the challenge comes in the procedure of orchiopexy. Case Presentation: We report a case of a 26-year-old man with PMDS. It was accidentally discovered when the patient presented to our outpatient clinic concerning about his empty scrotum as a premarital check. Diagnostic laparoscopy discovered Mullerian remnants in the form of uterus, cervix, and fallopian tubes with two attached testes to the fallopian tubes. Staged laparoscopic orchiopexy was done. We discuss the presentation, the management of this case in the literature, and our intervention. Conclusion: PMDS is not a common condition. Several concerns present in the management of these cases. Malignant transformation of the testis is the main risk facing those patients. Few literature studies discussed the risk of changing of these remnants into malignant tissue. Thus discussion with the patient, tissue histopathology, expert opinions, and literature review are the main clues in management of such cases.

Genetic short stature.

PubMed

Grunauer, Michelle; Jorge, Alexander A L

2018-02-01

Adult height and growth patterns are largely genetically programmed. Studies in twins have indicated that the heritability of height is high (>80%), suggesting that genetic variation is the main determinant of stature. Height exhibits a normal (Gaussian) distribution according to sex, age, and ancestry. Short stature is usually defined as a height which is 2 standard deviations (S.D.) less than the mean height of a specific population. This definition includes 2.3% of the population and usually includes healthy individuals. In this group of short stature non-syndromic conditions, the genetic influence occurs polygenically or oligogenically. As a rule, each common genetic variant accounts for a small effect (1mm) on individual height variation. Recently, several studies demonstrated that some rare variants can cause greater effect on height, without causing a syndromic condition. In more extreme cases, height SDS below 2.5 or 3 (which would comprise approximately 0.6 and 0.1% of the population, respectively) is frequently associated with syndromic conditions and are usually caused by a monogenic defect. More than 1,000 inherited/genetic diseases have growth disorder as an important phenotype. These conditions are usually responsible for syndromic short stature. In the coming years, we expect to discover several genetic causes of short stature, thereby explaining the phenotype of what we currently classify as short stature of unknown cause. These discoveries will have a profound impact on the follow-up and treatment of these children. Copyright © 2017 Elsevier Ltd. All rights reserved.

Job satisfaction or production? How staff and leadership understand operating room efficiency: a qualitative study.

PubMed

Arakelian, E; Gunningberg, L; Larsson, J

2008-11-01

How to increase efficiency in operating departments has been widely studied. However, there is no overall definition of efficiency. Supervisors urging staff to work efficiently may meet strong reactions due to staff believing that demands for efficiency means just stress at work. Differences in how efficiency is understood may constitute an obstacle to supervisors' efforts to promote it. This study aimed to explore how staff and leadership understand operating room efficiency. Twenty-one members of staff and supervisors in an operating department in a Swedish county hospital were interviewed. The analysis was performed with a phenomenographic approach that aims to discover the variations in how a phenomenon is understood by a group of people. Six categories were found in the understanding of operation room efficiency: (A) having the right qualifications; (B) enjoying work; (C) planning and having good control and overview; (D) each professional performing the correct tasks; (E) completing a work assignment; and (F) producing as much as possible per time unit. The most significant finding was that most of the nurses and assistant nurses understood efficiency as individual knowledge and experience emphasizing the importance of the work process, whereas the supervisors and physicians understood efficiency in terms of production per time unit or completing an assignment. The concept 'operating room efficiency' is understood in different ways by leadership and staff members. Supervisors who are aware of this variation will have better prerequisites for defining the concept and for creating a common platform towards becoming efficient.

Pathway-based variant enrichment analysis on the example of dilated cardiomyopathy.

PubMed

Backes, Christina; Meder, Benjamin; Lai, Alan; Stoll, Monika; Rühle, Frank; Katus, Hugo A; Keller, Andreas

2016-01-01

Genome-wide association (GWA) studies have significantly contributed to the understanding of human genetic variation and its impact on clinical traits. Frequently only a limited number of highly significant associations were considered as biologically relevant. Increasingly, network analysis of affected genes is used to explore the potential role of the genetic background on disease mechanisms. Instead of first determining affected genes or calculating scores for genes and performing pathway analysis on the gene level, we integrated both steps and directly calculated enrichment on the genetic variant level. The respective approach has been tested on dilated cardiomyopathy (DCM) GWA data as showcase. To compute significance values, 5000 permutation tests were carried out and p values were adjusted for multiple testing. For 282 KEGG pathways, we computed variant enrichment scores and significance values. Of these, 65 were significant. Surprisingly, we discovered the "nucleotide excision repair" and "tuberculosis" pathways to be most significantly associated with DCM (p = 10(-9)). The latter pathway is driven by genes of the HLA-D antigen group, a finding that closely resembles previous discoveries made by expression quantitative trait locus analysis in the context of DCM-GWA. Next, we implemented a sub-network-based analysis, which searches for affected parts of KEGG, however, independent on the pre-defined pathways. Here, proteins of the contractile apparatus of cardiac cells as well as the FAS sub-network were found to be affected by common polymorphisms in DCM. In this work, we performed enrichment analysis directly on variants, leveraging the potential to discover biological information in thousands of published GWA studies. The applied approach is cutoff free and considers a ranked list of genetic variants as input.

Optical Flares and a Long-lived Dark Spot on a Cool Shallow Contact Binary

NASA Astrophysics Data System (ADS)

Qian, S.-B.; Wang, J.-J.; Zhu, L.-Y.; Snoonthornthum, B.; Wang, L.-Z.; Zhao, E. G.; Zhou, X.; Liao, W.-P.; Liu, N.-P.

2014-05-01

W UMa-type stars are contact systems where both cool components fill the critical Roche lobes and share a common convective envelope. Long and unbroken time-series photometry is expected to play an important role in their origin and activity. The newly discovered short-period W UMa-type star, CSTAR 038663, was monitored continuously by Chinese Small Telescope ARray (CSTAR) in Antarctica during the winters of 2008 and 2010. There were 15 optical flares recorded in the i band during the winter of 2010. This was the first time such flares were detected from a W UMa-type star. By analyzing the nearly unbroken photometric data from 2008, it is discovered that CSTAR 038663 is a W-type shallow contact binary system (f = 10.6(± 2.9)%) with a high mass ratio of q = 1.12(± 0.01), where the less massive component is slightly hotter than the more massive one. The asymmetric light curves are explained by the presence of a dark spot on the more massive component. Its temperature is about 800 K lower than the stellar photosphere and it covers 2.1% of the total photospheric surface. The lifetime of the dark spot is longer than 116 days. Using 725 eclipse times, we found that the observed-calculated (O-C) curve may show a cyclic variation that is explained by the presence of a close-in third body. Both the shallow contact configuration and the extremely high mass ratio suggest that CSTAR 038663 is presently evolving into a contact system with little mass transfer. The formation and evolution is driven by the loss of angular momentum via magnetic braking, and the close-in companion star is expected to play an important role, removing angular momentum from the central eclipsing binary.

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

PubMed

Chaste, Pauline; Klei, Lambertus; Sanders, Stephan J; Hus, Vanessa; Murtha, Michael T; Lowe, Jennifer K; Willsey, A Jeremy; Moreno-De-Luca, Daniel; Yu, Timothy W; Fombonne, Eric; Geschwind, Daniel; Grice, Dorothy E; Ledbetter, David H; Mane, Shrikant M; Martin, Donna M; Morrow, Eric M; Walsh, Christopher A; Sutcliffe, James S; Lese Martin, Christa; Beaudet, Arthur L; Lord, Catherine; State, Matthew W; Cook, Edwin H; Devlin, Bernie

2015-05-01

Phenotypic heterogeneity in autism has long been conjectured to be a major hindrance to the discovery of genetic risk factors, leading to numerous attempts to stratify children based on phenotype to increase power of discovery studies. This approach, however, is based on the hypothesis that phenotypic heterogeneity closely maps to genetic variation, which has not been tested. Our study examines the impact of subphenotyping of a well-characterized autism spectrum disorder (ASD) sample on genetic homogeneity and the ability to discover common genetic variants conferring liability to ASD. Genome-wide genotypic data of 2576 families from the Simons Simplex Collection were analyzed in the overall sample and phenotypic subgroups defined on the basis of diagnosis, IQ, and symptom profiles. We conducted a family-based association study, as well as estimating heritability and evaluating allele scores for each phenotypic subgroup. Association analyses revealed no genome-wide significant association signal. Subphenotyping did not increase power substantially. Moreover, allele scores built from the most associated single nucleotide polymorphisms, based on the odds ratio in the full sample, predicted case status in subsets of the sample equally well and heritability estimates were very similar for all subgroups. In genome-wide association analysis of the Simons Simplex Collection sample, reducing phenotypic heterogeneity had at most a modest impact on genetic homogeneity. Our results are based on a relatively small sample, one with greater homogeneity than the entire population; if they apply more broadly, they imply that analysis of subphenotypes is not a productive path forward for discovering genetic risk variants in ASD. Copyright © 2015 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

Discovering Cortical Folding Patterns in Neonatal Cortical Surfaces Using Large-Scale Dataset

PubMed Central

Meng, Yu; Li, Gang; Wang, Li; Lin, Weili; Gilmore, John H.

2017-01-01

The cortical folding of the human brain is highly complex and variable across individuals. Mining the major patterns of cortical folding from modern large-scale neuroimaging datasets is of great importance in advancing techniques for neuroimaging analysis and understanding the inter-individual variations of cortical folding and its relationship with cognitive function and disorders. As the primary cortical folding is genetically influenced and has been established at term birth, neonates with the minimal exposure to the complicated postnatal environmental influence are the ideal candidates for understanding the major patterns of cortical folding. In this paper, for the first time, we propose a novel method for discovering the major patterns of cortical folding in a large-scale dataset of neonatal brain MR images (N = 677). In our method, first, cortical folding is characterized by the distribution of sulcal pits, which are the locally deepest points in cortical sulci. Because deep sulcal pits are genetically related, relatively consistent across individuals, and also stable during brain development, they are well suitable for representing and characterizing cortical folding. Then, the similarities between sulcal pit distributions of any two subjects are measured from spatial, geometrical, and topological points of view. Next, these different measurements are adaptively fused together using a similarity network fusion technique, to preserve their common information and also catch their complementary information. Finally, leveraging the fused similarity measurements, a hierarchical affinity propagation algorithm is used to group similar sulcal folding patterns together. The proposed method has been applied to 677 neonatal brains (the largest neonatal dataset to our knowledge) in the central sulcus, superior temporal sulcus, and cingulate sulcus, and revealed multiple distinct and meaningful folding patterns in each region. PMID:28229131

International variations and trends in renal cell carcinoma incidence and mortality.

PubMed

Znaor, Ariana; Lortet-Tieulent, Joannie; Laversanne, Mathieu; Jemal, Ahmedin; Bray, Freddie

2015-03-01

Renal cell carcinoma (RCC) incidence rates are higher in developed countries, where up to half of the cases are discovered incidentally. Declining mortality trends have been reported in highly developed countries since the 1990s. To compare and interpret geographic variations and trends in the incidence and mortality of RCC worldwide in the context of controlling the future disease burden. We used data from GLOBOCAN, the Cancer Incidence in Five Continents series, and the World Health Organisation mortality database to compare incidence and mortality rates in more than 40 countries worldwide. We analysed incidence and mortality trends in the last 10 yr using joinpoint analyses of the age-standardised rates (ASRs). RCC incidence in men varied in ASRs (World standard population) from approximately 1/100,000 in African countries to >15/100,000 in several Northern and Eastern European countries and among US blacks. Similar patterns were observed for women, although incidence rates were commonly half of those for men. Incidence rates are increasing in most countries, most prominently in Latin America. Although recent mortality trends are stable in many countries, significant declines were observed in Western and Northern Europe, the USA, and Australia. Southern European men appear to have the least favourable RCC mortality trends. Although RCC incidence is still increasing in most countries, stabilisation of mortality trends has been achieved in many highly developed countries. There are marked absolute differences and opposing RCC mortality trends in countries categorised as areas of higher versus lower human development, and these gaps appear to be widening. Renal cell cancer is becoming more commonly diagnosed worldwide in both men and women. Mortality is decreasing in the most developed settings, but not in low- and middle-income countries, where access to and the availability of optimal therapies are likely to be limited. Copyright © 2014 European Association of Urology. Published by Elsevier B.V. All rights reserved.

Phylogeography and Genetic Ancestry of Tigers (Panthera tigris)

PubMed Central

Johnson, Warren E; van der Walt, Joelle; Martenson, Janice; Yuhki, Naoya; Miquelle, Dale G; Uphyrkina, Olga; Goodrich, John M; Quigley, Howard B; Tilson, Ronald; Brady, Gerald; Martelli, Paolo; Subramaniam, Vellayan; McDougal, Charles; Hean, Sun; Huang, Shi-Qiang; Pan, Wenshi; Karanth, Ullas K; Sunquist, Melvin; Smith, James L. D

2004-01-01

Eight traditional subspecies of tiger (Panthera tigris), of which three recently became extinct, are commonly recognized on the basis of geographic isolation and morphological characteristics. To investigate the species' evolutionary history and to establish objective methods for subspecies recognition, voucher specimens of blood, skin, hair, and/or skin biopsies from 134 tigers with verified geographic origins or heritage across the whole distribution range were examined for three molecular markers: (1) 4.0 kb of mitochondrial DNA (mtDNA) sequence; (2) allele variation in the nuclear major histocompatibility complex class II DRB gene; and (3) composite nuclear microsatellite genotypes based on 30 loci. Relatively low genetic variation with mtDNA, DRB, and microsatellite loci was found, but significant population subdivision was nonetheless apparent among five living subspecies. In addition, a distinct partition of the Indochinese subspecies P. t. corbetti into northern Indochinese and Malayan Peninsula populations was discovered. Population genetic structure would suggest recognition of six taxonomic units or subspecies: (1) Amur tiger P. t. altaica; (2) northern Indochinese tiger P. t. corbetti; (3) South China tiger P. t. amoyensis; (4) Malayan tiger P. t. jacksoni, named for the tiger conservationist Peter Jackson; (5) Sumatran tiger P. t. sumatrae; and (6) Bengal tiger P. t. tigris. The proposed South China tiger lineage is tentative due to limited sampling. The age of the most recent common ancestor for tiger mtDNA was estimated to be 72,000–108,000 y, relatively younger than some other Panthera species. A combination of population expansions, reduced gene flow, and genetic drift following the last genetic diminution, and the recent anthropogenic range contraction, have led to the distinct genetic partitions. These results provide an explicit basis for subspecies recognition and will lead to the improved management and conservation of these recently isolated but distinct geographic populations of tigers. PMID:15583716

New Variable Stars Discovered by Data Mining Images Taken during Recent Asteroid Photometric Observations. II. Results from July 2015 through December 2016

NASA Astrophysics Data System (ADS)

Papini, R.; Marchini, A.; Salvaggio, F.; Agnetti, D.; Bacci, P.; Banfi, M.; Bianciardi, G.; Collina, M.; Franco, L.; Galli, G.; Milani, M. G. A.; Lopresti, C.; Marino, G.; Rizzuti, L.; Ruocco, N.; Quadri, U.

2017-12-01

This paper follows the previous publication of new variables discovered at Astronomical Observatory, DSFTA, University of Siena, while observing asteroids in order to determine their rotational periods. Usually, this task requires time series images acquisition on a single field for as long as possible on a few nights not necessarily consecutive. Checking continually this "goldmine" allowed us to discover 57 variable stars not yet listed in catalogues or databases. While most of the new variables are eclipsing binaries, a few belong to the RR Lyrae or delta Scuti class. Since asteroid work is definitely a time-consuming activity, coordinated campaigns of follow-up with other observatories have been fundamental in order to determine the elements of the ephemeris and sometimes the right subclass of variability. Further observations of these new variables are therefore strongly encouraged in order to better characterize these stars, especially pulsating ones whose data combined with those taken during professional surveys seem to suggest the presence of light curve amplitude and period variations.

Mobile element biology – new possibilities with high-throughput sequencing

PubMed Central

Xing, Jinchuan; Witherspoon, David J.; Jorde, Lynn B.

2014-01-01

Mobile elements compose more than half of the human genome, but until recently their large-scale detection was time-consuming and challenging. With the development of new high-throughput sequencing technologies, the complete spectrum of mobile element variation in humans can now be identified and analyzed. Thousands of new mobile element insertions have been discovered, yielding new insights into mobile element biology, evolution, and genomic variation. We review several high-throughput methods, with an emphasis on techniques that specifically target mobile element insertions in humans, and we highlight recent applications of these methods in evolutionary studies and in the analysis of somatic alterations in human cancers. PMID:23312846

Planet Within a Planet: Rotation of the Inner Core of Earth

PubMed

Su; Dziewonski; Jeanloz

1996-12-13

The time dependence of the orientation of Earth's inner core relative to the mantle was determined using a recently discovered 10-degree tilt in the axis of symmetry of the inner core's seismic-velocity anisotropy. Two methods of analyzing travel-time variations for rays traversing the inner core, on the basis of 29 years of data from the International Seismological Centre (1964-1992), reveal that the inner core appears to rotate about 3 degrees per year faster than the mantle. An anomalous variation in inner-core orientation from 1969 to 1973 coincides in time with a sudden change ("jerk") in the geomagnetic field.

New Results from an Old Friend: The Crab Nebula and its Pulsar

NASA Technical Reports Server (NTRS)

Weisskopf, Martin C.

2011-01-01

The Crab nebula and its associated pulsar have been the target of thousands of observations at all wavelengths over the years. Nevertheless, the system continues to provide new surprises and observational insights into its physical mechanisms. We shall discuss a number of new results we have obtained through Chandra observations. Results include highly detailed pulse-phase spectroscopy which poses challenges to our understanding of pulsar emission mechanisms, a new and precise look at the pulsar geometry, the results of a search for the site of the recently-discovered gamma-ray flares, and a study of the spatial and temporal variation(s) of the southern jet.

The Semi-Planned LAN: Prototyping a Local Area Network.

ERIC Educational Resources Information Center

True, John F.; Rosenwald, Judah

1986-01-01

Five administrative user departments at San Francisco State University discovered that they had common requirements for office automation and data manipulation that could be addressed with microcomputers. The results of a local area network project are presented. (Author/MLW)

ODISEES Availability and Feedback Request

Atmospheric Science Data Center

2014-09-06

... As a follow-up Action from the Atmospheric Science Data Center (ASDC) User Working Group (UWG) held on 24-25 June, we are ... for a common language to describe scientific terms so that a computer can scour the internet, automatically discover relevant information ...

Discovering Patterns in Interarrival Data

ERIC Educational Resources Information Center

Johnson, Roger W.

2017-01-01

It is suggested that students collect interarrival data for customers arriving at a queue. Two common features will often occur across these various datasets. Some data collection hints, some problems for students to pursue and a few pointers to the literature are given.

Maintenance of genetic variation in human personality: Testing evolutionary models by estimating heritability due to common causal variants and investigating the effect of distant inbreeding

PubMed Central

Verweij, Karin J.H.; Yang, Jian; Lahti, Jari; Veijola, Juha; Hintsanen, Mirka; Pulkki-Råback, Laura; Heinonen, Kati; Pouta, Anneli; Pesonen, Anu-Katriina; Widen, Elisabeth; Taanila, Anja; Isohanni, Matti; Miettunen, Jouko; Palotie, Aarno; Penke, Lars; Service, Susan K.; Heath, Andrew C.; Montgomery, Grant W.; Raitakari, Olli; Kähönen, Mika; Viikari, Jorma; Räikkönen, Katri; Eriksson, Johan G; Keltikangas-Järvinen, Liisa; Lehtimäki, Terho; Martin, Nicholas G.; Järvelin, Marjo-Riitta; Visscher, Peter M.; Keller, Matthew C.; Zietsch, Brendan P.

2012-01-01

Personality traits are basic dimensions of behavioural variation, and twin, family, and adoption studies show that around 30% of the between-individual variation is due to genetic variation. There is rapidly-growing interest in understanding the evolutionary basis of this genetic variation. Several evolutionary mechanisms could explain how genetic variation is maintained in traits, and each of these makes predictions in terms of the relative contribution of rare and common genetic variants to personality variation, the magnitude of nonadditive genetic influences, and whether personality is affected by inbreeding. Using genome-wide SNP data from >8,000 individuals, we estimated that little variation in the Cloninger personality dimensions (7.2% on average) is due to the combined effect of common, additive genetic variants across the genome, suggesting that most heritable variation in personality is due to rare variant effects and/or a combination of dominance and epistasis. Furthermore, higher levels of inbreeding were associated with less socially-desirable personality trait levels in three of the four personality dimensions. These findings are consistent with genetic variation in personality traits having been maintained by mutation-selection balance. PMID:23025612

Taxonomy and Biology of Phlebotomine Vectors of Human Disease.

DTIC Science & Technology

Five new Lutzomyia species were collected in Colombia in 1986; these previously unknown females of other sand flies were illustrated and described...and Peru, were discovered. Lutzomyia peruensis, a suspected vector of Leishmania in Peru, may represent two or more morphospecies. Results of studies...of oocyte topography of 5 Lutzomyia species and brain cell chromosomes of 12 species showed interspecific variation. Specimens of sand flies from

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.

PubMed

Southey, Melissa C; Park, Daniel J; Nguyen-Dumont, Tu; Campbell, Ian; Thompson, Ella; Trainer, Alison H; Chenevix-Trench, Georgia; Simard, Jacques; Dumont, Martine; Soucy, Penny; Thomassen, Mads; Jønson, Lars; Pedersen, Inge S; Hansen, Thomas Vo; Nevanlinna, Heli; Khan, Sofia; Sinilnikova, Olga; Mazoyer, Sylvie; Lesueur, Fabienne; Damiola, Francesca; Schmutzler, Rita; Meindl, Alfons; Hahnen, Eric; Dufault, Michael R; Chris Chan, Tl; Kwong, Ava; Barkardóttir, Rosa; Radice, Paolo; Peterlongo, Paolo; Devilee, Peter; Hilbers, Florentine; Benitez, Javier; Kvist, Anders; Törngren, Therese; Easton, Douglas; Hunter, David; Lindstrom, Sara; Kraft, Peter; Zheng, Wei; Gao, Yu-Tang; Long, Jirong; Ramus, Susan; Feng, Bing-Jian; Weitzel, Jeffrey N; Nathanson, Katherine; Offit, Kenneth; Joseph, Vijai; Robson, Mark; Schrader, Kasmintan; Wang, San; Kim, Yeong C; Lynch, Henry; Snyder, Carrie; Tavtigian, Sean; Neuhausen, Susan; Couch, Fergus J; Goldgar, David E

2013-06-21

Linkage analysis, positional cloning, candidate gene mutation scanning and genome-wide association study approaches have all contributed significantly to our understanding of the underlying genetic architecture of breast cancer. Taken together, these approaches have identified genetic variation that explains approximately 30% of the overall familial risk of breast cancer, implying that more, and likely rarer, genetic susceptibility alleles remain to be discovered.

Developing Confidence Limits For Reliability Of Software

NASA Technical Reports Server (NTRS)

Hayhurst, Kelly J.

1991-01-01

Technique developed for estimating reliability of software by use of Moranda geometric de-eutrophication model. Pivotal method enables straightforward construction of exact bounds with associated degree of statistical confidence about reliability of software. Confidence limits thus derived provide precise means of assessing quality of software. Limits take into account number of bugs found while testing and effects of sampling variation associated with random order of discovering bugs.

How evolution learns to generalise: Using the principles of learning theory to understand the evolution of developmental organisation.

PubMed

Kouvaris, Kostas; Clune, Jeff; Kounios, Loizos; Brede, Markus; Watson, Richard A

2017-04-01

One of the most intriguing questions in evolution is how organisms exhibit suitable phenotypic variation to rapidly adapt in novel selective environments. Such variability is crucial for evolvability, but poorly understood. In particular, how can natural selection favour developmental organisations that facilitate adaptive evolution in previously unseen environments? Such a capacity suggests foresight that is incompatible with the short-sighted concept of natural selection. A potential resolution is provided by the idea that evolution may discover and exploit information not only about the particular phenotypes selected in the past, but their underlying structural regularities: new phenotypes, with the same underlying regularities, but novel particulars, may then be useful in new environments. If true, we still need to understand the conditions in which natural selection will discover such deep regularities rather than exploiting 'quick fixes' (i.e., fixes that provide adaptive phenotypes in the short term, but limit future evolvability). Here we argue that the ability of evolution to discover such regularities is formally analogous to learning principles, familiar in humans and machines, that enable generalisation from past experience. Conversely, natural selection that fails to enhance evolvability is directly analogous to the learning problem of over-fitting and the subsequent failure to generalise. We support the conclusion that evolving systems and learning systems are different instantiations of the same algorithmic principles by showing that existing results from the learning domain can be transferred to the evolution domain. Specifically, we show that conditions that alleviate over-fitting in learning systems successfully predict which biological conditions (e.g., environmental variation, regularity, noise or a pressure for developmental simplicity) enhance evolvability. This equivalence provides access to a well-developed theoretical framework from learning theory that enables a characterisation of the general conditions for the evolution of evolvability.

FIRST PHOTOMETRIC INVESTIGATION OF THE NEWLY DISCOVERED W UMa-TYPE BINARY STAR MR Com

DOE Office of Scientific and Technical Information (OSTI.GOV)

Qian, S.-B.; Liu, N.-P.; Liao, W.-P.

By analyzing multi-color light curves of the newly discovered W UMa-type binary, MR Com, we discovered that it is a shallow-contact binary with a degree of contact factor of f = 10.0% {+-} 2.1%. Photometric solutions reveal that MR Com is a W-type system with a mass ratio of q = 3.9 where the less massive component is about 90 K hotter than the more massive one. By investigating all of the available times of minimum light, we found that the general trend of the Observed-Calculated (O - C) curve shows a downward parabolic variation while it undergoes a cyclicmore » variation with a small amplitude of 0.0031 days and a period of 10.1 yr. The downward parabolic change corresponds to a long-term decrease in the orbital period at a rate of P-dot = -5.3 x 10{sup -7} days yr{sup -1} that may be caused by a combination of a mass transfer and an angular momentum loss (AML) via magnetic braking. Among the 16 shallow-contact systems with a decreasing orbital period, MR Com has the lowest mass ratio (e.g., 1/q = 0.26). The shallow-contact configuration, the low-mass ratio, and the long-term period decrease all suggest that systems similar to MR Com are on the AML-controlled stage of the evolutionary scheme proposed by Qian. They will oscillate around a critical mass ratio and evolve into a deep contact with a higher mass ratio. The small-amplitude cyclic change in the O - C curve was analyzed for the light-travel time effect via the presence of an extremely cool stellar companion.« less

DOE Office of Scientific and Technical Information (OSTI.GOV)

Barlow, B. N.; Dunlap, B. H.; Clemens, J. C., E-mail: bbarlow@physics.unc.edu

A periodic variation in the pulse timings of the pulsating hot subdwarf B (sdB) star CS 1246 was recently discovered via the observed minus calculated (O-C) diagram and suggests the presence of a binary companion with an orbital period of two weeks. Fits to this phase variation, when interpreted as orbital reflex motion, imply CS 1246 orbits a barycenter 11 lt-s away with a velocity of 16.6 km s{sup -1}. Using the Goodman spectrograph on the SOAR telescope, we decided to confirm this hypothesis by obtaining radial velocity measurements of the system over several months. Our spectra reveal a velocitymore » variation with amplitude, period, and phase in accordance with the O-C diagram predictions. This corroboration demonstrates that the rapid pulsations of hot sdB stars can be adequate clocks for the discovery of binary companions via the pulse timing method.« less

Effects of Individual Health Topic Familiarity on Activity Patterns During Health Information Searches

PubMed Central

Moriyama, Koichi; Fukui, Ken–ichi; Numao, Masayuki

2015-01-01

Background Non-medical professionals (consumers) are increasingly using the Internet to support their health information needs. However, the cognitive effort required to perform health information searches is affected by the consumer’s familiarity with health topics. Consumers may have different levels of familiarity with individual health topics. This variation in familiarity may cause misunderstandings because the information presented by search engines may not be understood correctly by the consumers. Objective As a first step toward the improvement of the health information search process, we aimed to examine the effects of health topic familiarity on health information search behaviors by identifying the common search activity patterns exhibited by groups of consumers with different levels of familiarity. Methods Each participant completed a health terminology familiarity questionnaire and health information search tasks. The responses to the familiarity questionnaire were used to grade the familiarity of participants with predefined health topics. The search task data were transcribed into a sequence of search activities using a coding scheme. A computational model was constructed from the sequence data using a Markov chain model to identify the common search patterns in each familiarity group. Results Forty participants were classified into L1 (not familiar), L2 (somewhat familiar), and L3 (familiar) groups based on their questionnaire responses. They had different levels of familiarity with four health topics. The video data obtained from all of the participants were transcribed into 4595 search activities (mean 28.7, SD 23.27 per session). The most frequent search activities and transitions in all the familiarity groups were related to evaluations of the relevancy of selected web pages in the retrieval results. However, the next most frequent transitions differed in each group and a chi-squared test confirmed this finding (P<.001). Next, according to the results of a perplexity evaluation, the health information search patterns were best represented as a 5-gram sequence pattern. The most common patterns in group L1 were frequent query modifications, with relatively low search efficiency, and accessing and evaluating selected results from a health website. Group L2 performed frequent query modifications, but with better search efficiency, and accessed and evaluated selected results from a health website. Finally, the members of group L3 successfully discovered relevant results from the first query submission, performed verification by accessing several health websites after they discovered relevant results, and directly accessed consumer health information websites. Conclusions Familiarity with health topics affects health information search behaviors. Our analysis of state transitions in search activities detected unique behaviors and common search activity patterns in each familiarity group during health information searches. PMID:25783222

Dimensions of Professional Virtue.

ERIC Educational Resources Information Center

Sergiovanni, Thomas J.

1995-01-01

Exhorts 1994 University of San Diego graduates to invest their talents in serving the common good, whatever their chosen professions. Professionals have the capacity for welcoming complexity, acquiring information without being overwhelmed by it, planning without being controlled by their plans, discovering relationships, and creating meaning from…

Energy Conservation at Worcester Polytechnic Institute

ERIC Educational Resources Information Center

Pierce, Gardner T.

1976-01-01

Responding to the need for reduced energy consumption, administrators at Worcester Polytechnic Institute have discovered since 1973 that common sense and good management techniques, and the cooperation of an involved campus community, could lead to significant savings without disruption of college routines. (Editor/LBH)

Population Genetic Analysis Infers Migration Pathways of Phytophthora ramorum in US Nurseries

PubMed Central

Goss, Erica M.; Larsen, Meg; Chastagner, Gary A.; Givens, Donald R.; Grünwald, Niklaus J.

2009-01-01

Recently introduced, exotic plant pathogens may exhibit low genetic diversity and be limited to clonal reproduction. However, rapidly mutating molecular markers such as microsatellites can reveal genetic variation within these populations and be used to model putative migration patterns. Phytophthora ramorum is the exotic pathogen, discovered in the late 1990s, that is responsible for sudden oak death in California forests and ramorum blight of common ornamentals. The nursery trade has moved this pathogen from source populations on the West Coast to locations across the United States, thus risking introduction to other native forests. We examined the genetic diversity of P. ramorum in United States nurseries by microsatellite genotyping 279 isolates collected from 19 states between 2004 and 2007. Of the three known P. ramorum clonal lineages, the most common and genetically diverse lineage in the sample was NA1. Two eastward migration pathways were revealed in the clustering of NA1 isolates into two groups, one containing isolates from Connecticut, Oregon, and Washington and the other isolates from California and the remaining states. This finding is consistent with trace forward analyses conducted by the US Department of Agriculture's Animal and Plant Health Inspection Service. At the same time, genetic diversities in several states equaled those observed in California, Oregon, and Washington and two-thirds of multilocus genotypes exhibited limited geographic distributions, indicating that mutation was common during or subsequent to migration. Together, these data suggest that migration, rapid mutation, and genetic drift all play a role in structuring the genetic diversity of P. ramorum in US nurseries. This work demonstrates that fast-evolving genetic markers can be used to examine the evolutionary processes acting on recently introduced pathogens and to infer their putative migration patterns, thus showing promise for the application of forensics to plant pathogens. PMID:19774068

Using Statistical Process Control to Drive Improvement in Neonatal Care: A Practical Introduction to Control Charts.

PubMed

Gupta, Munish; Kaplan, Heather C

2017-09-01

Quality improvement (QI) is based on measuring performance over time, and variation in data measured over time must be understood to guide change and make optimal improvements. Common cause variation is natural variation owing to factors inherent to any process; special cause variation is unnatural variation owing to external factors. Statistical process control methods, and particularly control charts, are robust tools for understanding data over time and identifying common and special cause variation. This review provides a practical introduction to the use of control charts in health care QI, with a focus on neonatology. Copyright © 2017 Elsevier Inc. All rights reserved.

A methodology for multivariate phenotype-based genome-wide association studies to mine pleiotropic genes.

PubMed

Park, Sung Hee; Lee, Ji Young; Kim, Sangsoo

2011-01-01

Current Genome-Wide Association Studies (GWAS) are performed in a single trait framework without considering genetic correlations between important disease traits. Hence, the GWAS have limitations in discovering genetic risk factors affecting pleiotropic effects. This work reports a novel data mining approach to discover patterns of multiple phenotypic associations over 52 anthropometric and biochemical traits in KARE and a new analytical scheme for GWAS of multivariate phenotypes defined by the discovered patterns. This methodology applied to the GWAS for multivariate phenotype highLDLhighTG derived from the predicted patterns of the phenotypic associations. The patterns of the phenotypic associations were informative to draw relations between plasma lipid levels with bone mineral density and a cluster of common traits (Obesity, hypertension, insulin resistance) related to Metabolic Syndrome (MS). A total of 15 SNPs in six genes (PAK7, C20orf103, NRIP1, BCL2, TRPM3, and NAV1) were identified for significant associations with highLDLhighTG. Noteworthy findings were that the significant associations included a mis-sense mutation (PAK7:R335P), a frame shift mutation (C20orf103) and SNPs in splicing sites (TRPM3). The six genes corresponded to rat and mouse quantitative trait loci (QTLs) that had shown associations with the common traits such as the well characterized MS and even tumor susceptibility. Our findings suggest that the six genes may play important roles in the pleiotropic effects on lipid metabolism and the MS, which increase the risk of Type 2 Diabetes and cardiovascular disease. The use of the multivariate phenotypes can be advantageous in identifying genetic risk factors, accounting for the pleiotropic effects when the multivariate phenotypes have a common etiological pathway.

A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome

PubMed Central

Mathias, Rasika Ann; Taub, Margaret A.; Gignoux, Christopher R.; Fu, Wenqing; Musharoff, Shaila; O'Connor, Timothy D.; Vergara, Candelaria; Torgerson, Dara G.; Pino-Yanes, Maria; Shringarpure, Suyash S.; Huang, Lili; Rafaels, Nicholas; Boorgula, Meher Preethi; Johnston, Henry Richard; Ortega, Victor E.; Levin, Albert M.; Song, Wei; Torres, Raul; Padhukasahasram, Badri; Eng, Celeste; Mejia-Mejia, Delmy-Aracely; Ferguson, Trevor; Qin, Zhaohui S.; Scott, Alan F.; Yazdanbakhsh, Maria; Wilson, James G.; Marrugo, Javier; Lange, Leslie A.; Kumar, Rajesh; Avila, Pedro C.; Williams, L. Keoki; Watson, Harold; Ware, Lorraine B.; Olopade, Christopher; Olopade, Olufunmilayo; Oliveira, Ricardo; Ober, Carole; Nicolae, Dan L.; Meyers, Deborah; Mayorga, Alvaro; Knight-Madden, Jennifer; Hartert, Tina; Hansel, Nadia N.; Foreman, Marilyn G.; Ford, Jean G.; Faruque, Mezbah U.; Dunston, Georgia M.; Caraballo, Luis; Burchard, Esteban G.; Bleecker, Eugene; Araujo, Maria Ilma; Herrera-Paz, Edwin Francisco; Gietzen, Kimberly; Grus, Wendy E.; Bamshad, Michael; Bustamante, Carlos D.; Kenny, Eimear E.; Hernandez, Ryan D.; Beaty, Terri H.; Ruczinski, Ingo; Akey, Joshua; Campbell, Monica; Chavan, Sameer; Foster, Cassandra; Gao, Li; Horowitz, Edward; Ortiz, Romina; Potee, Joseph; Gao, Jingjing; Hu, Yijuan; Hansen, Mark; Deshpande, Aniket; Locke, Devin P.; Grammer, Leslie; Kim, Kwang-YounA; Schleimer, Robert; De La Vega, Francisco M.; Szpiech, Zachary A.; Oluwole, Oluwafemi; Arinola, Ganiyu; Correa, Adolfo; Musani, Solomon; Chong, Jessica; Nickerson, Deborah; Reiner, Alexander; Maul, Pissamai; Maul, Trevor; Martinez, Beatriz; Meza, Catherine; Ayestas, Gerardo; Landaverde-Torres, Pamela; Erazo, Said Omar Leiva; Martinez, Rosella; Mayorga, Luis F.; Ramos, Hector; Saenz, Allan; Varela, Gloria; Vasquez, Olga Marina; Samms-Vaughan, Maureen; Wilks, Rainford J.; Adegnika, Akim; Ateba-Ngoa, Ulysse; Barnes, Kathleen C.

2016-01-01

The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in history and had a profound impact on genetic diversity in modern populations. To date, the fine-scale population structure of descendants of the African Diaspora remains largely uncharacterized. Here we present genetic variation from deeply sequenced genomes of 642 individuals from North and South American, Caribbean and West African populations, substantially increasing the lexicon of human genomic variation and suggesting much variation remains to be discovered in African-admixed populations in the Americas. We summarize genetic variation in these populations, quantifying the postcolonial sex-biased European gene flow across multiple regions. Moreover, we refine estimates on the burden of deleterious variants carried across populations and how this varies with African ancestry. Our data are an important resource for empowering disease mapping studies in African-admixed individuals and will facilitate gene discovery for diseases disproportionately affecting individuals of African ancestry. PMID:27725671

Treatment patterns in moderate-to-severe plaque psoriasis: results from a Belgian cross-sectional study (DISCOVER).

PubMed

Lambert, Julien; Ghislain, Pierre-Dominique; Lambert, Jo; Cauwe, Bénédicte; Van den Enden, Maria

2017-08-01

The present study aimed to evaluate current treatment patterns and achievement of treatment goals in Belgian patients with moderate-to-severe plaque psoriasis. This cross-sectional observational study (DISCOVER) was conducted in 2011 - 2012 in Belgian dermatology centers. Patient data were collected during a single visit and included information on psoriasis management and severity (PASI and DLQI). Treatment success was defined according to the current European consensus treatment goal algorithm. Of the 556 patients included in the study, 38.1% reported no current treatment or only topicals, 34.2% were being treated with traditional systemics and/or phototherapy, and 29.5% with biologics. Methotrexate (11.7%) was the most commonly prescribed traditional systemic and adalimumab (14.2%) was the most commonly prescribed biologic agent at the time of the study. The percentage of patients achieving treatment goals was significantly higher in biologic-treated patients (73.1%) compared to those using traditional systemics (50.6%), phototherapy (41.1%), or no treatment/only topicals (20.9%; p < .001). Nearly 40% of Belgian patients with moderate-to-severe psoriasis in the DISCOVER study were undertreated despite the severity of their disease. Undertreatment of psoriasis remains a problem in Belgium and more effective educational strategies are needed to ensure the best treatment outcome for these patients. [Formula: see text].

The Eucalyptus terpene synthase gene family.

PubMed

Külheim, Carsten; Padovan, Amanda; Hefer, Charles; Krause, Sandra T; Köllner, Tobias G; Myburg, Alexander A; Degenhardt, Jörg; Foley, William J

2015-06-11

Terpenoids are abundant in the foliage of Eucalyptus, providing the characteristic smell as well as being valuable economically and influencing ecological interactions. Quantitative and qualitative inter- and intra- specific variation of terpenes is common in eucalypts. The genome sequences of Eucalyptus grandis and E. globulus were mined for terpene synthase genes (TPS) and compared to other plant species. We investigated the relative expression of TPS in seven plant tissues and functionally characterized five TPS genes from E. grandis. Compared to other sequenced plant genomes, Eucalyptus grandis has the largest number of putative functional TPS genes of any sequenced plant. We discovered 113 and 106 putative functional TPS genes in E. grandis and E. globulus, respectively. All but one TPS from E. grandis were expressed in at least one of seven plant tissues examined. Genomic clusters of up to 20 genes were identified. Many TPS are expressed in tissues other than leaves which invites a re-evaluation of the function of terpenes in Eucalyptus. Our data indicate that terpenes in Eucalyptus may play a wider role in biotic and abiotic interactions than previously thought. Tissue specific expression is common and the possibility of stress induction needs further investigation. Phylogenetic comparison of the two investigated Eucalyptus species gives insight about recent evolution of different clades within the TPS gene family. While the majority of TPS genes occur in orthologous pairs some clades show evidence of recent gene duplication, as well as loss of function.

Enlarging cystic lymphangioma of the mediastinum in an adult: is this a neoplastic lesion related to the recently discovered PIK3CA mutation?

PubMed

Tajima, Shogo; Takanashi, Yusuke; Koda, Kenji

2015-01-01

Cystic lymphangioma, a lymphatic system malformation, is usually observed in infants and children and is rarely found in adults. It most commonly occurs in the cervicofacial region, followed by the axilla. Mediastinal cystic lymphangioma is rare, accounting for 1.8% of all mediastinal cysts. Herein, we present an exceedingly rare adult case of mediastinal cystic lymphangioma that had increased in size over a 5-year period. Although fluid collection might be an alternative explanation for this increase in size, this lymphangioma might harbor a neoplastic nature related to the recently discovered PIK3CA mutation.

[Ocular manifestations of AIDS in Dakar].

PubMed

Ndoye, N B; Sow, P S; Ba, E A; Ndiaye, M R; Wade, A; Coll-Seck, A M

1993-01-01

In this prospective study undertaken between november 1989 and december 1991, the authors report their observations of ocular lesions seen in a cohort of 67 AIDS patients hospitalised in the Infectious Diseases department CHU Fann Dakar. Ocular lesions were discovered in 52.23%. These lesions were observed in both HIV-1 and HIV-2 positive patients, however they were much more common in the former group (77.14%). Rétinal pathology was by far the most frequently observed (63%) and yet classic retinis was not discovered in our series. We feel that the ophtalmologist should play a key role in the routine care of AIDS patients especially in surveillance of retinal changes.

Recommended Best Practices for the Characterization of Storage Properties of Hydrogen Storage Materials

DOE Office of Scientific and Technical Information (OSTI.GOV)

None

2010-03-01

This is a reference guide to common methodologies and protocols for measuring critical performance properties of advanced hydrogen storage materials. It helps users to communicate clearly the relevant performance properties of new materials as they are discovered and tested.

Spatial versus Tree Representations of Proximity Data.

ERIC Educational Resources Information Center

Pruzansky, Sandra; And Others

1982-01-01

Two-dimensional euclidean planes and additive trees are two of the most common representations of proximity data for multidimensional scaling. Guidelines for comparing these representations and discovering properties that could help identify which representation is more appropriate for a given data set are presented. (Author/JKS)

Discover the Atlantic Ocean: An Exciting Coloring Book of Fish and Shellfish.

ERIC Educational Resources Information Center

Flick, George J.

This coloring book contains pictures of more than 79 fish and shellfish found on the Atlantic Coast. Captions give information on habitats, behavior, or commercial uses of the species pictured. Indexes of both common and scientific names are given. (BB)

Understanding 3D human torso shape via manifold clustering

NASA Astrophysics Data System (ADS)

Li, Sheng; Li, Peng; Fu, Yun

2013-05-01

Discovering the variations in human torso shape plays a key role in many design-oriented applications, such as suit designing. With recent advances in 3D surface imaging technologies, people can obtain 3D human torso data that provide more information than traditional measurements. However, how to find different human shapes from 3D torso data is still an open problem. In this paper, we propose to use spectral clustering approach on torso manifold to address this problem. We first represent high-dimensional torso data in a low-dimensional space using manifold learning algorithm. Then the spectral clustering method is performed to get several disjoint clusters. Experimental results show that the clusters discovered by our approach can describe the discrepancies in both genders and human shapes, and our approach achieves better performance than the compared clustering method.

Graph Matching: Relax at Your Own Risk.

PubMed

Lyzinski, Vince; Fishkind, Donniell E; Fiori, Marcelo; Vogelstein, Joshua T; Priebe, Carey E; Sapiro, Guillermo

2016-01-01

Graph matching-aligning a pair of graphs to minimize their edge disagreements-has received wide-spread attention from both theoretical and applied communities over the past several decades, including combinatorics, computer vision, and connectomics. Its attention can be partially attributed to its computational difficulty. Although many heuristics have previously been proposed in the literature to approximately solve graph matching, very few have any theoretical support for their performance. A common technique is to relax the discrete problem to a continuous problem, therefore enabling practitioners to bring gradient-descent-type algorithms to bear. We prove that an indefinite relaxation (when solved exactly) almost always discovers the optimal permutation, while a common convex relaxation almost always fails to discover the optimal permutation. These theoretical results suggest that initializing the indefinite algorithm with the convex optimum might yield improved practical performance. Indeed, experimental results illuminate and corroborate these theoretical findings, demonstrating that excellent results are achieved in both benchmark and real data problems by amalgamating the two approaches.

The history of Toxoplasma gondii--the first 100 years.

PubMed

Dubey, Jitender P

2008-01-01

In this paper the history of Toxoplasma gondii and toxoplasmosis is reviewed. This protozoan parasite was first discovered in 1908 and named a year later. Its medical importance remained unknown until 1939 when T. gondii was identified in tissues of a congenitally infected infant, and veterinary importance became known when it was found to cause abortion storms in sheep in 1957. The discovery of a T. gondii specific antibody test, Sabin-Feldman dye test in 1948 led to the recognition that T. gondii is a common parasite of warm-blooded hosts with a worldwide distribution. Its life cycle was not discovered until 1970 when it was found that felids are its definitive host and an environmentally resistant stage (oocyst) is excreted in feces of infected cats. The recent discovery of its common infection in certain marine wildlife (sea otters) indicates contamination of our seas with T. gondii oocysts washed from land. Hygiene remains the best preventive measure because currently there is no vaccine to prevent toxoplasmosis in humans.

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

PubMed Central

2012-01-01

The increasing size and complexity of exome/genome sequencing data requires new tools for clinical geneticists to discover disease-causing variants. Bottlenecks in identifying the causative variation include poor cross-sample querying, constantly changing functional annotation and not considering existing knowledge concerning the phenotype. We describe a methodology that facilitates exploration of patient sequencing data towards identification of causal variants under different genetic hypotheses. Annotate-it facilitates handling, analysis and interpretation of high-throughput single nucleotide variant data. We demonstrate our strategy using three case studies. Annotate-it is freely available and test data are accessible to all users at http://www.annotate-it.org. PMID:23013645

The Variable Crab Nebula: Evidence for a Connection between GeV flares and Hard X-ray Variations

NASA Astrophysics Data System (ADS)

Wilson-Hodge, Colleen A.; Kust Harding, Alice; Hays, Elizabeth A.; Cherry, Michael L.; Case, Gary L.; Finger, Mark H.; Jenke, Peter; Zhang, Xiao-Ling

2016-04-01

In 2010, hard X-ray variations (Wilson-Hodge et al. 2011) and GeV flares (Tavani et al 2011, Abdo et al. 2011) from the Crab Nebula were discovered. Connections between these two phenomena were unclear, in part because the timescales were quite different, with yearly variations in hard X-rays and hourly to daily variations in the GeV flares. The hard X-ray flux from the Crab Nebula has again declined since 2014, much like it did in 2008-2010. During both hard X-ray decline periods, the Fermi LAT detected no GeV flares, suggesting that injection of particles from the GeV flares produces the much slower and weaker hard X-ray variations. The timescale for the particles emitting the GeV flares to lose enough energy to emit synchrotron photons in hard X-rays is consistent with the yearly variations observed in hard X-rays and with the expectation that the timescale for variations slowly increases with decreasing energy. This hypothesis also predicts even slower and weaker variations below 10 keV, consistent with the non-detection of counterparts to the GeV flares by Chandra (Weisskopf et al 2013). We will present a comparison of the observed hard X-ray variations and a simple model of the decay of particles from the GeV flares to test our hypothesis.

The Variable Crab Nebula: Evidence for a Connection Between GeV Flares and Hard X-ray Variations

NASA Technical Reports Server (NTRS)

Wilson-Hodge, Colleen A.; Harding, A. K.; Hays, E. A.; Cherry, M. L.; Case, G. L.; Finger, M. H.; Jenke, P.; Zhang, X.

2016-01-01

In 2010, hard X-ray variations (Wilson-Hodge et al. 2011) and GeV flares (Tavani et al 2011, Abdo et al. 2011) from the Crab Nebula were discovered. Connections between these two phenomena were unclear, in part because the timescales were quite different, with yearly variations in hard X-rays and hourly to daily variations in the GeV flares. The hard X-ray flux from the Crab Nebula has again declined since 2014, much like it did in 2008-2010. During both hard X-ray decline periods, the Fermi LAT detected no GeV flares, suggesting that injection of particles from the GeV flares produces the much slower and weaker hard X-ray variations. The timescale for the particles emitting the GeV flares to lose enough energy to emit synchrotron photons in hard X-rays is consistent with the yearly variations observed in hard X-rays and with the expectation that the timescale for variations slowly increases with decreasing energy. This hypothesis also predicts even slower and weaker variations below 10 keV, consistent with the non-detection of counterparts to the GeV flares by Chandra (Weisskopf et al 2013). We will present a comparison of the observed hard X-ray variations and a simple model of the decay of particles from the GeV flares to test our hypothesis.

An Analysis of the Effectiveness of the Air Force Drug Testing Program and Four Potential Modifications

DTIC Science & Technology

1993-09-01

attempted to control substance abuse. In the 1920’s and 30’s, marijuana was commonly used as a substitute for alcohol during prohibition (1:4-7). In...discovered D-lysergic acia tiiethylamide (LSD), methaqualone (quaalude), and phencyclidine (PCP) joined heroin, amphetamines, and marijuana as drugs abused...themselves in Southeast Asia where drugs were plentiful and cheap. The most commonly used drugs were heroin and marijuana . Initially, the DOD policy

Improving the Interpretability of Classification Rules Discovered by an Ant Colony Algorithm: Extended Results.

PubMed

Otero, Fernando E B; Freitas, Alex A

2016-01-01

Most ant colony optimization (ACO) algorithms for inducing classification rules use a ACO-based procedure to create a rule in a one-at-a-time fashion. An improved search strategy has been proposed in the cAnt-Miner[Formula: see text] algorithm, where an ACO-based procedure is used to create a complete list of rules (ordered rules), i.e., the ACO search is guided by the quality of a list of rules instead of an individual rule. In this paper we propose an extension of the cAnt-Miner[Formula: see text] algorithm to discover a set of rules (unordered rules). The main motivations for this work are to improve the interpretation of individual rules by discovering a set of rules and to evaluate the impact on the predictive accuracy of the algorithm. We also propose a new measure to evaluate the interpretability of the discovered rules to mitigate the fact that the commonly used model size measure ignores how the rules are used to make a class prediction. Comparisons with state-of-the-art rule induction algorithms, support vector machines, and the cAnt-Miner[Formula: see text] producing ordered rules are also presented.

QTL variations for growth-related traits in eight distinct families of common carp (Cyprinus carpio).

PubMed

Lv, Weihua; Zheng, Xianhu; Kuang, Youyi; Cao, Dingchen; Yan, Yunqin; Sun, Xiaowen

2016-05-05

Comparing QTL analyses of multiple pair-mating families can provide a better understanding of important allelic variations and distributions. However, most QTL mapping studies in common carp have been based on analyses of individual families. In order to improve our understanding of heredity and variation of QTLs in different families and identify important QTLs, we performed QTL analysis of growth-related traits in multiple segregating families. We completed a genome scan for QTLs that affect body weight (BW), total length (TL), and body thickness (BT) of 522 individuals from eight full-sib families using 250 microsatellites evenly distributed across 50 chromosomes. Sib-pair and half-sib model mapping identified 165 QTLs on 30 linkage groups. Among them, 10 (genome-wide P <0.01 or P < 0.05) and 28 (chromosome-wide P < 0.01) QTLs exhibited significant evidence of linkage, while the remaining 127 exhibited a suggestive effect on the above three traits at a chromosome-wide (P < 0.05) level. Multiple QTLs obtained from different families affect BW, TL, and BT and locate at close or identical positions. It suggests that same genetic factors may control variability in these traits. Furthermore, the results of the comparative QTL analysis of multiple families showed that one QTL was common in four of the eight families, nine QTLs were detected in three of the eight families, and 26 QTLs were found common to two of the eight families. These common QTLs are valuable candidates in marker-assisted selection. A large number of QTLs were detected in the common carp genome and associated with growth-related traits. Some of the QTLs of different growth-related traits were identified at similar chromosomal regions, suggesting a role for pleiotropy and/or tight linkage and demonstrating a common genetic basis of growth trait variations. The results have set up an example for comparing QTLs in common carp and provided insights into variations in the identified QTLs affecting body growth. Discovery of these common QTLs between families and growth-related traits represents an important step towards understanding of quantitative genetic variation in common carp.

Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.

PubMed

Yousri, Noha A; Fakhro, Khalid A; Robay, Amal; Rodriguez-Flores, Juan L; Mohney, Robert P; Zeriri, Hassina; Odeh, Tala; Kader, Sara Abdul; Aldous, Eman K; Thareja, Gaurav; Kumar, Manish; Al-Shakaki, Alya; Chidiac, Omar M; Mohamoud, Yasmin A; Mezey, Jason G; Malek, Joel A; Crystal, Ronald G; Suhre, Karsten

2018-01-23

Metabolomics-genome-wide association studies (mGWAS) have uncovered many metabolic quantitative trait loci (mQTLs) influencing human metabolic individuality, though predominantly in European cohorts. By combining whole-exome sequencing with a high-resolution metabolomics profiling for a highly consanguineous Middle Eastern population, we discover 21 common variant and 12 functional rare variant mQTLs, of which 45% are novel altogether. We fine-map 10 common variant mQTLs to new metabolite ratio associations, and 11 common variant mQTLs to putative protein-altering variants. This is the first work to report common and rare variant mQTLs linked to diseases and/or pharmacological targets in a consanguineous Arab cohort, with wide implications for precision medicine in the Middle East.

Prevalence and Risk Factors Associated with Musculoskeletal Discomfort in Spay and Neuter Veterinarians

PubMed Central

White, Sara C.

2013-01-01

Simple Summary This study examined musculoskeletal pain and discomfort in spay and neuter veterinarians using an internet-based questionnaire. Hand pain was most common in the right thumb and wrist, and body pain was most common in the lower back, shoulders, and neck. Several work-related risk factors for discomfort were discovered, including long career in spay and neuter, increasing weekly hours in surgery, and decreasing job satisfaction. Although most respondents felt posture during surgery was important, few spay and neuter veterinarians have received any instruction in posture or ergonomics in surgery. Abstract A cross-sectional study to investigate musculoskeletal discomfort (MSD) surveyed 219 veterinarians who currently or previously perform spays and neuters at least 4 hours per week. Participants were asked about the presence and severity of hand and body MSD during the previous month, whether MSD interfered with work or daily activities, whether they attributed their MSD to their spay/neuter work, and whether MSD had ever necessitated absence from work. The period prevalence of MSD was 99.1%, with 76.7% experiencing hand or wrist pain and 98.2% experiencing body pain. Hand discomfort was most commonly reported in the right thumb and/or thumb base (49.8%) and the right wrist (37.9%). Body discomfort was most commonly reported in the lower back (76.7%), shoulders (72.6%), and neck (71.7%). Increasing career length, increasing weekly hours in surgery and decreasing job satisfaction were the work-related factors with the greatest relative contribution accounting for variation in hand pain severity and total pain. Although 94.4% of respondents felt that posture during surgery is important, only 30.6% had received any instruction in posture and positioning for surgery. Future interventions should aim to optimize surgical efficiency, surgeon work schedules, and working environment. Analysis and intervention studies are required to determine further causes of MSD in these veterinarians and develop interventions to prevent MSD. PMID:26487311

Scintillation Counters

NASA Astrophysics Data System (ADS)

Bell, Zane W.

Scintillators find wide use in radiation detection as the detecting medium for gamma/X-rays, and charged and neutral particles. Since the first notice in 1895 by Roentgen of the production of light by X-rays on a barium platinocyanide screen, and Thomas Edison's work over the following 2 years resulting in the discovery of calcium tungstate as a superior fluoroscopy screen, much research and experimentation have been undertaken to discover and elucidate the properties of new scintillators. Scintillators with high density and high atomic number are prized for the detection of gamma rays above 1 MeV; lower atomic number, lower-density materials find use for detecting beta particles and heavy charged particles; hydrogenous scintillators find use in fast-neutron detection; and boron-, lithium-, and gadolinium-containing scintillators are used for slow-neutron detection. This chapter provides the practitioner with an overview of the general characteristics of scintillators, including the variation of probability of interaction with density and atomic number, the characteristics of the light pulse, a list and characteristics of commonly available scintillators and their approximate cost, and recommendations regarding the choice of material for a few specific applications. This chapter does not pretend to present an exhaustive list of scintillators and applications.

A Driving Bioinformatics Approach to Explore Co-regulation of AOX Gene Family Members During Growth and Development.

PubMed

Costa, José Hélio; Arnholdt-Schmitt, Birgit

2017-01-01

The alternative oxidase (AOX) gene family is a hot candidate for functional marker development that could help plant breeding on yield stability through more robust plants based on multi-stress tolerance. However, there is missing knowledge on the interplay between gene family members that might interfere with the efficiency of marker development. It is common view that AOX1 and AOX2 have different physiological roles. Nevertheless, both family member groups act in terms of molecular-biochemical function as "typical" alternative oxidases and co-regulation of AOX1 and AOX2 had been reported. Although conserved sequence differences had been identified, the basis for differential effects on physiology regulation is not sufficiently explored.This protocol gives instructions for a bioinformatics approach that supports discovering potential interaction of AOX family members in regulating growth and development. It further provides a strategy to elucidate the relevance of gene sequence diversity and copy number variation for final functionality in target tissues and finally the whole plant. Thus, overall this protocol provides the means for efficiently identifying plant AOX variants as functional marker candidates related to growth and development.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

PubMed Central

Timpson, Nicholas J.; Walter, Klaudia; Min, Josine L.; Tachmazidou, Ioanna; Malerba, Giovanni; Shin, So-Youn; Chen, Lu; Futema, Marta; Southam, Lorraine; Iotchkova, Valentina; Cocca, Massimiliano; Huang, Jie; Memari, Yasin; McCarthy, Shane; Danecek, Petr; Muddyman, Dawn; Mangino, Massimo; Menni, Cristina; Perry, John R. B.; Ring, Susan M.; Gaye, Amadou; Dedoussis, George; Farmaki, Aliki-Eleni; Burton, Paul; Talmud, Philippa J.; Gambaro, Giovanni; Spector, Tim D.; Smith, George Davey; Durbin, Richard; Richards, J Brent; Humphries, Steve E.; Zeggini, Eleftheria; Soranzo, Nicole; Al Turki, Saeed; Anderson, Carl; Anney, Richard; Antony, Dinu; Soler Artigas, Maria; Ayub, Muhammad; Balasubramaniam, Senduran; Barrett, Jeffrey C.; Barroso, Inês; Beales, Phil; Bentham, Jamie; Bhattacharya, Shoumo; Birney, Ewan; Blackwood, Douglas; Bobrow, Martin; Bochukova, Elena; Bolton, Patrick; Bounds, Rebecca; Boustred, Chris; Breen, Gerome; Calissano, Mattia; Carss, Keren; Chatterjee, Krishna; Chen, Lu; Ciampi, Antonio; Cirak, Sebhattin; Clapham, Peter; Clement, Gail; Coates, Guy; Collier, David; Cosgrove, Catherine; Cox, Tony; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Curtis, David; Daly, Allan; Danecek, Petr; Davey Smith, George; Day-Williams, Aaron; Day, Ian N. M.; Down, Thomas; Du, Yuanping; Dunham, Ian; Durbin, Richard; Edkins, Sarah; Ellis, Peter; Evans, David; Faroogi, Sadaf; Fatemifar, Ghazaleh; Fitzpatrick, David R.; Flicek, Paul; Flyod, James; Foley, A Reghan; Franklin, Christopher S; Futema, Marta; Gallagher, Louise; Gaunt, Tom; Geihs, Matthias; Geschwind, Daniel; Greenwood, Celia; Griffin, Heather; Grozeva, Detelina; Guo, Xueqin; Guo, Xiaosen; Gurling, Hugh; Hart, Deborah; Hendricks, Audrey; Holmans, Peter; Howie, Bryan; Huang, Jie; Huang, Liren; Hubbard, Tim; Humphries, Steve E.; Hurles, Matthew E.; Hysi, Pirro; Jackson, David K.; Jamshidi, Yalda; Jing, Tian; Joyce, Chris; Kaye, Jane; Keane, Thomas; Keogh, Julia; Kemp, John; Kennedy, Karen; Kolb-Kokocinski, Anja; Lachance, Genevieve; Langford, Cordelia; Lawson, Daniel; Lee, Irene; Lek, Monkol; Liang, Jieqin; Lin, Hong; Li, Rui; Li, Yingrui; Liu, Ryan; Lönnqvist, Jouko; Lopes, Margarida; Lotchkova, Valentina; MacArthur, Daniel; Marchini, Jonathan; Maslen, John; Massimo, Mangino; Mathieson, Iain; Marenne, Gaëlle; McCarthy, Shane; McGuffin, Peter; McIntosh, Andrew; McKechanie, Andrew G.; McQuillin, Andrew; Memari, Yasin; Metrustry, Sarah; Min, Josine; Mitchison, Hannah; Moayyeri, Alireza; Morris, James; Muddyman, Dawn; Muntoni, Francesco; Northstone, Kate; O'Donnovan, Michael; Onoufriadis, Alexandros; O'Rahilly, Stephen; Oualkacha, Karim; Owen, Michael J.; Palotie, Aarno; Panoutsopoulou, Kalliope; Parker, Victoria; Parr, Jeremy R.; Paternoster, Lavinia; Paunio, Tiina; Payne, Felicity; Perry, John; Pietilainen, Olli; Plagnol, Vincent; Quaye, Lydia; Quail, Michael A.; Raymond, Lucy; Rehnström, Karola; Richards, Brent; Ring, Susan; Ritchie, Graham R. S.; Roberts, Nicola; Savage, David B.; Scambler, Peter; Schiffels, Stephen; Schmidts, Miriam; Schoenmakers, Nadia; Semple, Robert K.; Serra, Eva; Sharp, Sally I.; Shihab, Hasheem; Shin, So-Youn; Skuse, David; Small, Kerrin; Soranzo, Nicole; Southam, Lorraine; Spasic-Boskovic, Olivera; Spector, Tim; St Clair, David; Stalker, Jim; Stevens, Elizabeth; St Pourcian, Beate; Sun, Jianping; Surdulescu, Gabriela; Suvisaari, Jaana; Tachmazidou, Ionna; Timpson, Nicholas; Tobin, Martin D.; Valdes, Ana; Van Kogelenberg, Margriet; Vijayarangakannan, Parthiban; Visscher, Peter M.; Wain, Louise V.; Walter, Klaudia; Walters, James T. R.; Wang, Guangbiao; Wang, Jun; Wang, Yu; Ward, Kirsten; Wheeler, Elanor; Whyte, Tamieka; Williams, Hywel; Williamson, Kathleen A.; Wilson, Crispian; Wilson, Scott G.; Wong, Kim; Xu, ChangJiang; Yang, Jian; Zeggini, Eleftheria; Zhang, Fend; Zhang, Pingbo; Zheng, Hou-Feng

2014-01-01

The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele frequency ~0.25% (UK)) associated with plasma triglyceride (TG) levels (−1.43 s.d. (s.e.=0.27 per minor allele (P-value=8.0 × 10−8)) discovered in 3,202 individuals with low read-depth, whole-genome sequence. We replicate this in 12,831 participants from five additional samples of Northern and Southern European origin (−1.0 s.d. (s.e.=0.173), P-value=7.32 × 10−9). This is consistent with an effect between 0.5 and 1.5 mmol l−1 dependent on population. We show that a single predicted splice donor variant is responsible for association signals and is independent of known common variants. Analyses suggest an independent relationship between rs138326449 and high-density lipoprotein (HDL) levels. This represents one of the first examples of a rare, large effect variant identified from whole-genome sequencing at a population scale. PMID:25225788

Video mining using combinations of unsupervised and supervised learning techniques

NASA Astrophysics Data System (ADS)

Divakaran, Ajay; Miyahara, Koji; Peker, Kadir A.; Radhakrishnan, Regunathan; Xiong, Ziyou

2003-12-01

We discuss the meaning and significance of the video mining problem, and present our work on some aspects of video mining. A simple definition of video mining is unsupervised discovery of patterns in audio-visual content. Such purely unsupervised discovery is readily applicable to video surveillance as well as to consumer video browsing applications. We interpret video mining as content-adaptive or "blind" content processing, in which the first stage is content characterization and the second stage is event discovery based on the characterization obtained in stage 1. We discuss the target applications and find that using a purely unsupervised approach are too computationally complex to be implemented on our product platform. We then describe various combinations of unsupervised and supervised learning techniques that help discover patterns that are useful to the end-user of the application. We target consumer video browsing applications such as commercial message detection, sports highlights extraction etc. We employ both audio and video features. We find that supervised audio classification combined with unsupervised unusual event discovery enables accurate supervised detection of desired events. Our techniques are computationally simple and robust to common variations in production styles etc.

Nematode orphan genes are adopted by conserved regulatory networks and find a home in ecology.

PubMed

Mayer, Melanie G; Sommer, Ralf J

2015-01-01

Nematode dauer formation represents an essential survival and dispersal strategy and is one of a few ecologically relevant traits that can be studied in laboratory approaches. Under harsh environmental conditions, the nematode model organisms Caenorhabditis elegans and Pristionchus pacificus arrest their development and induce the formation of stress-resistant dauer larvae in response to dauer pheromones, representing a key example of phenotypic plasticity. Previous studies have indicated that in P. pacificus, many wild isolates show cross-preference of dauer pheromones and compete for access to a limited food source. When investigating the genetic mechanisms underlying this intraspecific competition, we recently discovered that the orphan gene dauerless (dau-1) controls dauer formation by copy number variation. Our results show that dau-1 acts in parallel to or downstream of steroid hormone signaling but upstream of the nuclear hormone receptor daf-12, suggesting that DAU-1 represents a novel inhibitor of DAF-12. Phylogenetic analysis reveals that the observed copy number variation is part of a complex series of gene duplication events that occurred over short evolutionary time scales. Here, we comment on the incorporation of novel or fast-evolving genes into conserved genetic networks as a common principle for the evolution of phenotypic plasticity and intraspecific competition. We discuss the possibility that orphan genes might often function in the regulation and execution of ecologically relevant traits. Given that only few ecological processes can be studied in model organisms, the function of such genes might often go unnoticed, explaining the large number of uncharacterized genes in model system genomes.

Characterization and compensation of thermo-elastic instability of SWARM optical bench on micro Advanced Stellar Compass attitude observations

NASA Astrophysics Data System (ADS)

Herceg, M.; Jørgensen, P. S.; Jørgensen, J. L.

2017-08-01

Launched into orbit on November 22, 2013, the Swarm constellation of three satellites precisely measures magnetic signal of the Earth. To ensure the high accuracy of magnetic observation by vector magnetometer (VFM), its inertial attitude is precisely determined by μASC (micro Advanced Stellar Compass). Each of the three Swarm satellites is equipped with three μASC Camera Head Units (CHU) mounted on a common optical bench (OB), which has a purpose of transference of the attitude from the star trackers to the magnetometer measurements. Although substantial pre-launch analyses were made to maximize thermal and mechanical stability of the OB, significant signal with thermal signature is discovered when comparing relative attitude between the three CHU's (Inter Boresight Angle, IBA). These misalignments between CHU's, and consequently geomagnetic reference frame, are found to be correlated with the period of angle between Swarm orbital plane and the Sun (ca. 267 days), which suggests sensitivity of optical bench system on temperature variation. In this paper, we investigate the propagation of thermal effects into the μASC attitude observations and demonstrate how thermally induced attitude variation can be predicted and corrected in the Swarm data processing. The results after applying thermal corrections show decrease in IBA RMS from 6.41 to 2.58″. The model significantly improves attitude determination which, after correction, meets the requirements of Swarm satellite mission. This study demonstrates the importance of the OB pre-launch analysis to ensure minimum thermal gradient on satellite optical system and therefore maximum attitude accuracy.

Host genetic variation in mucosal immunity pathways influences the upper airway microbiome.

PubMed

Igartua, Catherine; Davenport, Emily R; Gilad, Yoav; Nicolae, Dan L; Pinto, Jayant; Ober, Carole

2017-02-01

The degree to which host genetic variation can modulate microbial communities in humans remains an open question. Here, we performed a genetic mapping study of the microbiome in two accessible upper airway sites, the nasopharynx and the nasal vestibule, during two seasons in 144 adult members of a founder population of European decent. We estimated the relative abundances (RAs) of genus level bacteria from 16S rRNA gene sequences and examined associations with 148,653 genetic variants (linkage disequilibrium [LD] r 2  < 0.5) selected from among all common variants discovered in genome sequences in this population. We identified 37 microbiome quantitative trait loci (mbQTLs) that showed evidence of association with the RAs of 22 genera (q < 0.05) and were enriched for genes in mucosal immunity pathways. The most significant association was between the RA of Dermacoccus (phylum Actinobacteria) and a variant 8 kb upstream of TINCR (rs117042385; p = 1.61 × 10 -8 ; q = 0.002), a long non-coding RNA that binds to peptidoglycan recognition protein 3 (PGLYRP3) mRNA, a gene encoding a known antimicrobial protein. A second association was between a missense variant in PGLYRP4 (rs3006458) and the RA of an unclassified genus of family Micrococcaceae (phylum Actinobacteria) (p = 5.10 × 10 -7 ; q = 0.032). Our findings provide evidence of host genetic influences on upper airway microbial composition in humans and implicate mucosal immunity genes in this relationship.

Undergraduates achieve learning gains in plant genetics through peer teaching of secondary students.

PubMed

Chrispeels, H E; Klosterman, M L; Martin, J B; Lundy, S R; Watkins, J M; Gibson, C L; Muday, G K

2014-01-01

This study tests the hypothesis that undergraduates who peer teach genetics will have greater understanding of genetic and molecular biology concepts as a result of their teaching experiences. Undergraduates enrolled in a non-majors biology course participated in a service-learning program in which they led middle school (MS) or high school (HS) students through a case study curriculum to discover the cause of a green tomato variant. The curriculum explored plant reproduction and genetic principles, highlighting variation in heirloom tomato fruits to reinforce the concept of the genetic basis of phenotypic variation. HS students were taught additional activities related to mole-cular biology techniques not included in the MS curriculum. We measured undergraduates' learning outcomes using pre/postteaching content assessments and the course final exam. Undergraduates showed significant gains in understanding of topics related to the curriculum they taught, compared with other course content, on both types of assessments. Undergraduates who taught HS students scored higher on questions specific to the HS curriculum compared with undergraduates who taught MS students, despite identical lecture content, on both types of assessments. These results indicate the positive effect of service-learning peer-teaching experiences on undergraduates' content knowledge, even for non-science major students. © 2014 H. E. Chrispeels et al. CBE—Life Sciences Education © 2014 The American Society for Cell Biology. This article is distributed by The American Society for Cell Biology under license from the author(s). It is available to the public under an Attribution–Noncommercial–Share Alike 3.0 Unported Creative Commons License (http://creativecommons.org/licenses/by-nc-sa/3.0).

Linked independent component analysis for multimodal data fusion.

PubMed

Groves, Adrian R; Beckmann, Christian F; Smith, Steve M; Woolrich, Mark W

2011-02-01

In recent years, neuroimaging studies have increasingly been acquiring multiple modalities of data and searching for task- or disease-related changes in each modality separately. A major challenge in analysis is to find systematic approaches for fusing these differing data types together to automatically find patterns of related changes across multiple modalities, when they exist. Independent Component Analysis (ICA) is a popular unsupervised learning method that can be used to find the modes of variation in neuroimaging data across a group of subjects. When multimodal data is acquired for the subjects, ICA is typically performed separately on each modality, leading to incompatible decompositions across modalities. Using a modular Bayesian framework, we develop a novel "Linked ICA" model for simultaneously modelling and discovering common features across multiple modalities, which can potentially have completely different units, signal- and contrast-to-noise ratios, voxel counts, spatial smoothnesses and intensity distributions. Furthermore, this general model can be configured to allow tensor ICA or spatially-concatenated ICA decompositions, or a combination of both at the same time. Linked ICA automatically determines the optimal weighting of each modality, and also can detect single-modality structured components when present. This is a fully probabilistic approach, implemented using Variational Bayes. We evaluate the method on simulated multimodal data sets, as well as on a real data set of Alzheimer's patients and age-matched controls that combines two very different types of structural MRI data: morphological data (grey matter density) and diffusion data (fractional anisotropy, mean diffusivity, and tensor mode). Copyright © 2010 Elsevier Inc. All rights reserved.

A New Species of Frog (Anura: Dicroglossidae) Discovered from the Mega City of Dhaka.

PubMed

Howlader, Mohammad Sajid Ali; Nair, Abhilash; Merilä, Juha

2016-01-01

We describe a new species of frog of the genus Zakerana discovered from the urban core of Dhaka, Bangladesh, one of the most densely populated cities in the world. Although the new species is morphologically similar to the geographically proximate congeners in the Bangladeshi cricket frog group, we show that it can be distinguished from all congeners on the basis of morphological characters, advertisement calls and variation in two mitochondrial DNA genes (12S rRNA and 16S rRNA). Apart from several diagnostic differences in body proportions, the new species differs from other Zakerana species in having a flattened snout (from ventral view) projecting over the lower jaw, and diagnostic trapezoid-shaped red markings on the vocal sac in males. Molecular genetic analyses show that the new species is highly divergent (3.1-20.1% sequence divergence) from all congeneric species, and forms a well-supported clade with its sister species, Zakerana asmati. The discovery of a new amphibian species from the urban core of Dhaka together with several recent descriptions of new amphibian species from Bangladesh may indicate that more amphibian species remain to be discovered from this country.

A New Species of Frog (Anura: Dicroglossidae) Discovered from the Mega City of Dhaka

PubMed Central

Howlader, Mohammad Sajid Ali; Nair, Abhilash; Merilä, Juha

2016-01-01

We describe a new species of frog of the genus Zakerana discovered from the urban core of Dhaka, Bangladesh, one of the most densely populated cities in the world. Although the new species is morphologically similar to the geographically proximate congeners in the Bangladeshi cricket frog group, we show that it can be distinguished from all congeners on the basis of morphological characters, advertisement calls and variation in two mitochondrial DNA genes (12S rRNA and 16S rRNA). Apart from several diagnostic differences in body proportions, the new species differs from other Zakerana species in having a flattened snout (from ventral view) projecting over the lower jaw, and diagnostic trapezoid-shaped red markings on the vocal sac in males. Molecular genetic analyses show that the new species is highly divergent (3.1–20.1% sequence divergence) from all congeneric species, and forms a well-supported clade with its sister species, Zakerana asmati. The discovery of a new amphibian species from the urban core of Dhaka together with several recent descriptions of new amphibian species from Bangladesh may indicate that more amphibian species remain to be discovered from this country. PMID:26934699

Preparing for TESS: Precision Ground-based Light-curves of Newly Discovered Transiting Exoplanets

NASA Astrophysics Data System (ADS)

Li, Yiting; Stefansson, Gudmundur; Mahadevan, Suvrath; Monson, Andy; Hebb, Leslie; Wisniewski, John; Huehnerhoff, Joseph

2018-01-01

NASA’s Transiting Exoplanet Survey Satellite (TESS), to be launched in early 2018, is expected to catalog a myriad of transiting exoplanet candidates ranging from Earth-sized to gas giants, orbiting a diverse range of stellar types in the solar neighborhood. In particular, TESS will find small planets orbiting the closest and brightest stars, and will enable detailed atmospheric characterizations of planets with current and future telescopes. In the TESS era, ground-based follow-up resources will play a critical role in validating and confirming the planetary nature of the candidates TESS will discover. Along with confirming the planetary nature of exoplanet transits, high precision ground-based transit observations allow us to put further constraints on exoplanet orbital parameters and transit timing variations. In this talk, we present new observations of transiting exoplanets recently discovered by the K2 mission, using the optical diffuser on the 3.5m ARC Telescope at Apache Point Observatory. These include observations of the mini-Neptunes K2-28b and K2-104b orbiting early-to-mid M-dwarfs. In addition, other recent transit observations performed using the robotic 30cm telescope at Las Campanas Observatory in Chile will be presented.

Trust Discovery in Online Communities

ERIC Educational Resources Information Center

Piorkowski, John

2014-01-01

This research aims to discover interpersonal trust in online communities. Two novel trust models are built to explain interpersonal trust in online communities drawing theories and models from multiple relevant areas, including organizational trust models, trust in virtual settings, speech act theory, identity theory, and common bond theory. In…

Interculturalism and Teaching Music in Grammar Schools

ERIC Educational Resources Information Center

Begic, Amir; Begic, Jasna Šulentic; Pušic, Ivana

2017-01-01

The concept of intercultural education should be aimed at better understanding of ourselves and others, discovering similarities and differences, recognizing preconceptions, and cooperation in accomplishing our common goals. Intercultural education can be very useful in resolving the issues that arise when different groups live together. Also,…

Discovering Semantic Patterns in Bibliographically Coupled Documents.

ERIC Educational Resources Information Center

Qin, Jian

1999-01-01

An example of semantic pattern analysis, based on keywords selected from documents grouped by bibliographical coupling, is used to demonstrate the methodological aspects of knowledge discovery in bibliographic databases. Frequency distribution patterns suggest the existence of a common intellectual base with a wide range of specialties and…

The Aunt Gladys Letter.

ERIC Educational Resources Information Center

Ritter, Mark

1992-01-01

Describes an activity in which students receive individual questions (i.e., What is a sparkler made of and what makes it sparkle?) to answers from their "Aunt Gladys." Students must research the everyday question, discover the answer, and then translate the answer into the common language of the masses. (PR)

Coincident Detection Significance in Multimessenger Astronomy

NASA Astrophysics Data System (ADS)

Ashton, G.; Burns, E.; Dal Canton, T.; Dent, T.; Eggenstein, H.-B.; Nielsen, A. B.; Prix, R.; Was, M.; Zhu, S. J.

2018-06-01

We derive a Bayesian criterion for assessing whether signals observed in two separate data sets originate from a common source. The Bayes factor for a common versus unrelated origin of signals includes an overlap integral of the posterior distributions over the common-source parameters. Focusing on multimessenger gravitational-wave astronomy, we apply the method to the spatial and temporal association of independent gravitational-wave and electromagnetic (or neutrino) observations. As an example, we consider the coincidence between the recently discovered gravitational-wave signal GW170817 from a binary neutron star merger and the gamma-ray burst GRB 170817A: we find that the common-source model is enormously favored over a model describing them as unrelated signals.

Distinct Copy Number, Coding Sequence, and Locus Methylation Patterns Underlie Rhg1-Mediated Soybean Resistance to Soybean Cyst Nematode1[W][OPEN

PubMed Central

Cook, David E.; Bayless, Adam M.; Wang, Kai; Guo, Xiaoli; Song, Qijian; Jiang, Jiming; Bent, Andrew F.

2014-01-01

Copy number variation of kilobase-scale genomic DNA segments, beyond presence/absence polymorphisms, can be an important driver of adaptive traits. Resistance to Heterodera glycines (Rhg1) is a widely utilized quantitative trait locus that makes the strongest known contribution to resistance against soybean cyst nematode (SCN), Heterodera glycines, the most damaging pathogen of soybean (Glycine max). Rhg1 was recently discovered to be a complex locus at which resistance-conferring haplotypes carry up to 10 tandem repeat copies of a 31-kb DNA segment, and three disparate genes present on each repeat contribute to SCN resistance. Here, we use whole-genome sequencing, fiber-FISH (fluorescence in situ hybridization), and other methods to discover the genetic variation at Rhg1 across 41 diverse soybean accessions. Based on copy number variation, transcript abundance, nucleic acid polymorphisms, and differentially methylated DNA regions, we find that SCN resistance is associated with multicopy Rhg1 haplotypes that form two distinct groups. The tested high-copy-number Rhg1 accessions, including plant introduction (PI) 88788, contain a flexible number of copies (seven to 10) of the 31-kb Rhg1 repeat. The identified low-copy-number Rhg1 group, including PI 548402 (Peking) and PI 437654, contains three copies of the Rhg1 repeat and a newly identified allele of Glyma18g02590 (a predicted α-SNAP [α-soluble N-ethylmaleimide–sensitive factor attachment protein]). There is strong evidence for a shared origin of the two resistance-conferring multicopy Rhg1 groups and subsequent independent evolution. Differentially methylated DNA regions also were identified within Rhg1 that correlate with SCN resistance. These data provide insights into copy number variation of multigene segments, using as the example a disease resistance trait of high economic importance. PMID:24733883

Expert system development for commonality analysis in space programs

NASA Technical Reports Server (NTRS)

Yeager, Dorian P.

1987-01-01

This report is a combination of foundational mathematics and software design. A mathematical model of the Commonality Analysis problem was developed and some important properties discovered. The complexity of the problem is described herein and techniques, both deterministic and heuristic, for reducing that complexity are presented. Weaknesses are pointed out in the existing software (System Commonality Analysis Tool) and several improvements are recommended. It is recommended that: (1) an expert system for guiding the design of new databases be developed; (2) a distributed knowledge base be created and maintained for the purpose of encoding the commonality relationships between design items in commonality databases; (3) a software module be produced which automatically generates commonality alternative sets from commonality databases using the knowledge associated with those databases; and (4) a more complete commonality analysis module be written which is capable of generating any type of feasible solution.

What do lollipops and influenza have in common?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ekiert, Damian

2012-06-22

Human drug trials have begun to test a new way to treat influenza that has the potential to create a universal vaccine. The powerful x-ray beams from the Advanced Light Source at Argonne National Laboratory outside of Chicago enabled scientists to see the structure of the influenza virus clear enough to discover a key commonality among influenza strains. Scientist Damien Ekiert, who won a 2012 award for his work in this discovery, explains why drug manufacturers could capitalize on this.

Carbon Cycling Dynamics in Response to Pine Beetle Infection and Climate Variation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Monson, Russell K.

2015-01-26

We originally proposed to study and discover the changes that have occurred in soil carbon pools, as a result of tree mortality due to beetle infection, and the ease by which those pools release CO2 to the atmosphere in mountain forests in the Western US. We studied forest plots at two sites – the Niwot Ridge AmeriFlux site and the Fraser Experimental Forest site, both in Colorado.

CORRIGENDUM: Variations in dose response with x-ray energy of LiF:Mg,Cu,P thermoluminescence dosimeters: implications for clinical dosimetry

NASA Astrophysics Data System (ADS)

Duggan, Lisa; Hood, Claire; Warren-Forward, Helen; Haque, Mamoon; Kron, Tomas

2004-09-01

The authors of the above paper would like to alert readers of the journal to a misprint on pages 3838 and 3843. The units of factor alpha2 in table 1 should read `× 105 keV-3'. The authors are grateful to a reader (Rajesh M Kumar) who when trying to fit the formula discovered and reported the problem.

Extreme divergence in floral scent among woodland star species (Lithophragma spp.) pollinated by floral parasites

PubMed Central

Friberg, Magne; Schwind, Christopher; Raguso, Robert A.; Thompson, John N.

2013-01-01

Backgrounds and Aims A current challenge in coevolutionary biology is to understand how suites of traits vary as coevolving lineages diverge. Floral scent is often a complex, variable trait that attracts a suite of generalized pollinators, but may be highly specific in plants specialized on attracting coevolved pollinating floral parasites. In this study, floral scent variation was investigated in four species of woodland stars (Lithophragma spp.) that share the same major pollinator (the moth Greya politella, a floral parasite). Three specific hypotheses were tested: (1) sharing the same specific major pollinator favours conservation of floral scent among close relatives; (2) selection favours ‘private channels’ of rare compounds particularly aimed at the specialist pollinator; or (3) selection from rare, less-specialized co-pollinators mitigates the conservation of floral scent and occurrence of private channels. Methods Dynamic headspace sampling and solid-phase microextraction were applied to greenhouse-grown plants from a common garden as well as to field samples from natural populations in a series of experiments aiming to disentangle the genetic and environmental basis of floral scent variation. Key Results Striking floral scent divergence was discovered among species. Only one of 69 compounds was shared among all four species. Scent variation was largely genetically based, because it was consistent across field and greenhouse treatments, and was not affected by visits from the pollinating floral parasite. Conclusions The strong divergence in floral scents among Lithophragma species contrasts with the pattern of conserved floral scent composition found in other plant genera involved in mutualisms with pollinating floral parasites. Unlike some of these other obligate pollination mutualisms, Lithophragma plants in some populations are occasionally visited by generalist pollinators from other insect taxa. This additional complexity may contribute to the diversification in floral scent found among the Lithophragma species pollinated by Greya moths. PMID:23365407

Oscillation Mode Variability in Evolved Compact Pulsators from Kepler Photometry. I. The Hot B Subdwarf Star KIC 3527751

NASA Astrophysics Data System (ADS)

Zong, Weikai; Charpinet, Stéphane; Fu, Jian-Ning; Vauclair, Gérard; Niu, Jia-Shu; Su, Jie

2018-02-01

We present the first results of an ensemble and systematic survey of oscillation mode variability in pulsating hot B subdwarf (sdB) and white dwarf stars observed with the original Kepler mission. The satellite provides uninterrupted high-quality photometric data with a time baseline that can reach up to 4 yr collected on pulsating stars. This is a unique opportunity to characterize long-term behaviors of oscillation modes. A mode modulation in amplitude and frequency can be independently inferred by its fine structure in the Fourier spectrum, from the sLSP, or with prewhitening methods applied to various parts of the light curve. We apply all these techniques to the sdB star KIC 3527751, a long-period-dominated hybrid pulsator. We find that all the detected modes with sufficiently large amplitudes to be thoroughly studied show amplitude and/or frequency variations. Components of three identified quintuplets around 92, 114, and 253 μHz show signatures that can be linked to nonlinear interactions according to the resonant mode coupling theory. This interpretation is further supported by the fact that many oscillation modes are found to have amplitudes and frequencies showing correlated or anticorrelated variations, a behavior that can be linked to the amplitude equation formalism, where nonlinear frequency corrections are determined by their amplitude variations. Our results suggest that oscillation modes varying with diverse patterns are a very common phenomenon in pulsating sdB stars. Close structures around main frequencies therefore need to be carefully interpreted in light of this finding to secure a robust identification of real eigenfrequencies, which is crucial for seismic modeling. The various modulation patterns uncovered should encourage further developments in the field of nonlinear stellar oscillation theory. It also raises a warning to any long-term project aiming at measuring the rate of period change of pulsations caused by stellar evolution, or at discovering stellar (planetary) companions around pulsating stars using timing methods, as both require very stable pulsation modes.

Eclipsing Binaries in the OGLE Variable Star Catalogs. V. Long-Period EB-Type Light Curve Systems in the Small Magellanic Cloud and the PLC-β Relation

NASA Astrophysics Data System (ADS)

Rucinski, Slavek M.; Maceroni, Carla

2001-01-01

Thirty-eight long-period (P>10 days) apparently contact binary stars discovered by the OGLE-II project in the SMC show EB-type light curves and an ``inverted'' period-color relation with longer orbital periods for redder systems. The strong light variations between eclipses can be explained within a semidetached model in which ellipsoidal variations of a large, evolved, Roche lobe-filling component dominates over eclipse effects in the systemic light changes. The model requires further spectroscopic and color-curve support before it can be fully accepted. It is noted that the dominant role of the Roche lobe-filling component in the total systemic luminosity can explain the new period-luminosity-color (PLC) relation, which has been established for the long-period EB (LP-EB) systems. We call it the PLC-β relation, to distinguish it from the Cepheid relation. Two versions of the PLC-β relation-based on the (B-V)0 or (V-I)0 color indices-have been calibrated for 33 systems with (V-I)0>0.25 spanning the orbital period range of 11 to 181 days (it was found that blue systems with (V-I)0<=0.25 do not follow the same calibration). The relations can provide maximum-light, absolute-magnitude estimates accurate to ɛMV~=0.35 mag within the approximate range -3

Evidence-Based Practice in Psychology among College Counseling Center Clinicians

ERIC Educational Resources Information Center

Cooper, Stewart E.; Benton, Sherry A.; Benton, Stephen L.; Phillips, Julia C.

2008-01-01

This empirically based study sought to discover factors underlying diverse sources of information used to inform therapy practice, perceived salience of sources of evidence for clinical practice, importance of common factors to therapy efficiency, and beliefs about evidence-based practice, particularly in the form of evidence-supported treatments…

A Survey of Practices and Strategies for Marketing Communication Majors.

ERIC Educational Resources Information Center

Gray, Philip A.; Wilson, Gerald L.

Fifty college speech departments responded to a survey intended to discover some of the common practices and strategies for marketing undergraduate speech communication majors. The results indicated that the most frequent name for the departments responding was "Communication" rather than "Speech Communication," completely the opposite of what was…

String Formatting Considered Harmful for Novice Programmers

ERIC Educational Resources Information Center

Hughes, Michael C.; Jadud, Matthew C.; Rodrigo, Ma. Mercedes T.

2010-01-01

In Java, "System.out.printf" and "String.format" consume a specialised kind of string commonly known as a format string. In our study of first-year students at the Ateneo de Manila University, we discovered that format strings present a substantial challenge for novice programmers. Focusing on their first laboratory we found…

Building Squares and Discovering Patterns

ERIC Educational Resources Information Center

Whitin, David J.; Whitin, Phyllis

2014-01-01

The Common Core State Standards for Mathematics (CCSSM) (CCSSI 2010) define what children should understand and be able to do in K-grade 12. This document also includes a description of key mathematical processes and proficiencies, the Standards for Mathematical Practice (SMPs), which provide an important overview for the kind of robust thinking…

The WWW, Preservice Teachers and Their Mathematics Courses.

ERIC Educational Resources Information Center

Halpin, Pat; Kossegi, Joanne D.

The use of modern technologies has become common in mathematics education and is considered necessary for good mathematics instruction. To effectively integrate technology into the curriculum, teachers must learn new behaviors and practices and discover that the changes result in positive student outcomes. The inherent difficulties involved with…

Robots Teaching Other Little Robots: Neoliberalism, CCSS, and Teacher Professionalism

ERIC Educational Resources Information Center

Endacott, Jason L.; Wright, Ginney P.; Goering, Christian Z.; Collet, Vicki S.; Denny, George S.; Davis, Jennifer Jennings

2015-01-01

Recent quantitative research on the implementation of the Common Core State Standards (CCSS) in schools across Arkansas has discovered that teachers' perceptions of job satisfaction, agency, and professionalism are significantly affected by their school leaders' openness towards autonomy, flexibility, and opinions of teachers (Matlock et al.…

Don't Call It School

ERIC Educational Resources Information Center

Robb, Daniel

2006-01-01

"Homeschooling," "deschooling," and "unschooling" are commonly used terms in the alternative-education world, but each lacks specificity. In this article, the author describes what he discovered during several visits to North Star. Known officially as North Star: Self-Directed Learning for Teens, it is not as structured as a so-called "free"…

A Qualitative Study of Superintendent Leadership Experiences during a Top-Down Organizational Change

ERIC Educational Resources Information Center

Bryant, Johane

2014-01-01

The purpose was to investigate common experiences of superintendents as they responded to realignment of leadership responsibilities during an organizational change initiated by mayoral control. To discover the shared essence of changes in leadership responsibilities experienced by superintendents, individuals "told their stories" to…

Discover Floods Educators Guide

ERIC Educational Resources Information Center

Project WET Foundation, 2009

2009-01-01

Now available as a Download! This valuable resource helps educators teach students about both the risks and benefits of flooding through a series of engaging, hands-on activities. Acknowledging the different roles that floods play in both natural and urban communities, the book helps young people gain a global understanding of this common--and…

Sudden death syndrome of soybean in Argentina

USDA-ARS?s Scientific Manuscript database

Sudden death syndrome (SDS) is one of the most common and widely spread root disease affecting soybean [Glycine max (L.) Merr.] in Argentina where it is an economically important crop. This disease was first discovered in this country in 1992 in the Pampas Region, and the following year in Northwest...

Teacher's Guide for Balloons and Gases.

ERIC Educational Resources Information Center

Griffith, Joe H.; And Others

This guide was developed to provide children with an opportunity to prepare and collect several common gases and to discover and work with some of their properties. The guide is divided into five major sections: (1) introduction, (2) materials, (3) activities, (4) balloons aloft, and (5) an appendix. The introduction provides information…

Discovering Folklore Through Community Resources.

ERIC Educational Resources Information Center

Sumpter, Magdalena Benavides, Ed.

The folkways and cultural heritage of the Mexican Americans of South Texas are explored in this volume which is designed to provide the student with the opportunity for cultural enrichment, oral language development, and vocabulary expansion. The first chapter deals with "Creencias" which are common beliefs handed down from generation to…

Novel multiplex PCR reveals multiple trypanosomatid species infecting North American bumble bees (Hymenoptera: Apidae: Bombus)

USDA-ARS?s Scientific Manuscript database

Crithidia bombi and Crithidia expoeki (Trypanosomatidae) are common parasites of bumble bees (Bombus spp.). Crithidia bombi was described in the 1980s, and C. expoeki was recently discovered using molecular tools. Both species have cosmopolitan distributions among their bumble bee hosts, but there h...

Discovering Student Web Usage Profiles Using Markov Chains

ERIC Educational Resources Information Center

Marques, Alice; Belo, Orlando

2011-01-01

Nowadays, Web based platforms are quite common in any university, supporting a very diversified set of applications and services. Ranging from personal management to student evaluation processes, Web based platforms are doing a great job providing a very flexible way of working, promote student enrolment, and making access to academic information…

Improving Collaborative Learning by Supporting Casual Encounters in Distance Learning.

ERIC Educational Resources Information Center

Contreras, Juan; Llamas, Rafael; Vizcaino, Aurora; Vavela, Jesus

Casual encounters in a learning environment are very useful in reinforcing previous knowledge and acquiring new knowledge. Such encounters are very common in traditional learning environments and can be used successfully in social environments in which students can discover and construct knowledge through a process of dialogue, negotiation, or…

Discovering Jewish Studies Collections in Academic Libraries: A Practical Guide

ERIC Educational Resources Information Center

Taler, Izabella

2014-01-01

The U.S. colleges and universities offering non-sectarian educational programs in Jewish Studies rely on the support of their academic libraries for research materials and library services. For college libraries which use Library of Congress Classification scheme, it is a common practice to integrate "studies" resources into their…

Motivating Students to Write about Art

ERIC Educational Resources Information Center

New, Robin

2005-01-01

In this article, the author relates what she had learned about motivating students to participate in writing activities. She initially assumed that time consuming and materialistic rewards would be the solution to this common teachers' dilemma. Instead, she discovered that teacher enthusiasm and ability top the list. This practice makes sense…

Peri-implant bony overgrowth as a cause of revision surgery in auditory osseointegrated implantation.

PubMed

Tompkins, Jared J; Petersen, Dana K; Sharbel, Daniel D; McKinnon, Brian J; MacDonald, C Bruce

2016-07-01

Implantation of auditory osseointegrated implants, also known as bone-anchored hearing systems (BAHS), represents a surgical option for select pediatric patients aged 5 years or older with hearing loss. Functional indications in this patient population include conductive or mixed hearing loss. Common complications of implantation include skin infections, chronic skin irritation, hypertrophic skin overgrowth, and loose abutments. In a case series of 15 pediatric patients, we discovered an unexpectedly high skin-related complication rate requiring surgical revision of 53%. During revision surgery, we discovered 5 patients who exhibited significant bony overgrowth at the abutment site, a complication infrequently noted in past literature. Published by Elsevier Ireland Ltd.

A smartphone-based introductory astronomy experiment: Seasons investigation

NASA Astrophysics Data System (ADS)

Durelle, Jeremy; Jones, Jennifer; Merriman, Steven; Balan, Aurelian

2017-02-01

Light sensor probes are useful in experiments that investigate seasonal variations and the nature of light. However, having a dedicated light probe is not always possible or even convenient for many instructors. Modern smartphone technology gives instructors the ability to use built-in light sensors as an inexpensive alternative. This introductory experiment will have students use a smartphone loaded with a light detection app to quantitatively determine how changing latitude on Earth changes flux received. The purpose is to have students discover how the different seasons arise from the Earth-Sun system. While performing the experiment and analyzing the data, students will also discover the following important and relevant physical relationships: distance from light source and light brightness (flux), latitude and flux, and Earth's orientation and location (latitude) of maximum flux. By piecing all of these relationships together, students are able to explain the origins of the different seasons based on the data they collected.

Improved Photometric Characteristics of the Newly Discovered EW-Type System GSC 04370-00206

NASA Astrophysics Data System (ADS)

Breus, V. V.; Andronov, I. L.; Dubovsky, P. A.; Hegedus, T.; Kudzej, I.; Petrik, K.

2010-12-01

We present results of two-color photometric study of the newly discovered EW-type eclipsing binary star GSC 04370-00206 in the field of the intermediate polar MU Cam. CCD V,R observations were obtained in the Astronomical Observatories in Hlohovec, Baja and Kolonica in 2007-2009. Improved photometric elements for the primary minimum were determined: Min.BJD=2454805.75635+0.44264511(27)E. The range of the brightness variations is 13.79-14.13 (V) and 13.07-13.44 (R). The accuracy of the period determination is by a factor of ˜ 7, 000 times better than the one published by the discoverers based on only one night of observations. We report on the night-to-night variability of the shape of the light curve which is interpreted by a presence of spots in the atmosphere of one or both components (O'Connel effect).

Anatomic variations of the branches of the aortic arch in a Peruvian population.

PubMed

Huapaya, Julio Arturo; Chávez-Trujillo, Kristhy; Trelles, Miguel; Dueñas Carbajal, Roy; Ferrandiz Espadin, Renato

2015-07-31

Previous publications from two countries in South America found one anatomical variation not previously reported in the rest of the world, which in turn give some clues with regard to a racial difference. The objective of the present study is to describe variations in the anatomical distribution of the branches of the aortic arch in a Peruvian population. To describe variations in the anatomical distribution of the branches of the aortic arch in a Peruvian population. A descriptive study of patients who underwent a tomography angiography of the aorta was performed. We analyzed the reports that showed the description of the variations of the branches of the aortic arch based on the eight types currently described in the literature. From 361 analyzed reports, 282 patients (78.12%) had a normal aortic arch configuration (type I; aortic arch gives rise to the brachiocephalic trunk, left common carotid and left subclavian arteries); followed by type II (left common carotid artery as a branch of the aorta) with 41 patients (11.36%); and type IX (common ostium for the brachiocephalic trunk and the left common carotid artery) with 25 patients (6.93%). The latter and two other types are new variations. Aortic Arch Type I, Type II and Type IX were the most frequent variations in this Peruvian study. Additionally, we also found two more new types that have not been previously described in the literature. Further investigation regarding these variations is needed in order to assess a racial factor in South America and possible relationships with clinical or surgical events.

Evidence for Ancient Origins of Bowman-Birk Inhibitors from Selaginella moellendorffii

PubMed Central

James, Amy M.; Jayasena, Achala S.; Zhang, Jingjing; Secco, David; Knott, Gavin J.; Whelan, James

2017-01-01

Bowman-Birk Inhibitors (BBIs) are a well-known family of plant protease inhibitors first described 70 years ago. BBIs are known only in the legume (Fabaceae) and cereal (Poaceae) families, but peptides that mimic their trypsin-inhibitory loops exist in sunflowers (Helianthus annuus) and frogs. The disparate biosynthetic origins and distant phylogenetic distribution implies these loops evolved independently, but their structural similarity suggests a common ancestor. Targeted bioinformatic searches for the BBI inhibitory loop discovered highly divergent BBI-like sequences in the seedless, vascular spikemoss Selaginella moellendorffii. Using de novo transcriptomics, we confirmed expression of five transcripts in S. moellendorffii whose encoded proteins share homology with BBI inhibitory loops. The most highly expressed, BBI3, encodes a protein that inhibits trypsin. We needed to mutate two lysine residues to abolish trypsin inhibition, suggesting BBI3’s mechanism of double-headed inhibition is shared with BBIs from angiosperms. As Selaginella belongs to the lycopod plant lineage, which diverged ∼200 to 230 million years before the common ancestor of angiosperms, its BBI-like proteins imply there was a common ancestor for legume and cereal BBIs. Indeed, we discovered BBI sequences in six angiosperm families outside the Fabaceae and Poaceae. These findings provide the evolutionary missing links between the well-known legume and cereal BBI gene families. PMID:28298518

Gene-expression signatures of Atlantic salmon's plastic life cycle.

PubMed

Aubin-Horth, Nadia; Letcher, Benjamin H; Hofmann, Hans A

2009-09-15

How genomic expression differs as a function of life history variation is largely unknown. Atlantic salmon exhibits extreme alternative life histories. We defined the gene-expression signatures of wild-caught salmon at two different life stages by comparing the brain expression profiles of mature sneaker males and immature males, and early migrants and late migrants. In addition to life-stage-specific signatures, we discovered a surprisingly large gene set that was differentially regulated-at similar magnitudes, yet in opposite direction-in both life history transitions. We suggest that this co-variation is not a consequence of many independent cellular and molecular switches in the same direction but rather represents the molecular equivalent of a physiological shift orchestrated by one or very few master regulators.

Anatomic variation and orgasm: Could variations in anatomy explain differences in orgasmic success?

PubMed

Emhardt, E; Siegel, J; Hoffman, L

2016-07-01

Though the public consciousness is typically focused on factors such as psychology, penis size, and the presence of the "G-spot," there are other anatomical and neuro-anatomic differences that could play an equal, or more important, role in the frequency and intensity of orgasms. Discovering these variations could direct further medical or procedural management to improve sexual satisfaction. The aim of this study is to review the available literature of anatomical sexual variation and to explain why this variation may predispose some patients toward a particular sexual experience. In this review, we explored the available literature on sexual anatomy and neuro-anatomy. We used PubMed and OVID Medline for search terms, including orgasm, penile size variation, clitoral variation, Grafenberg spot, and benefits of orgasm. First we review the basic anatomy and innervation of the reproductive organs. Then we describe several anatomical variations that likely play a superior role to popular known variation (penis size, presence of g-spot, etc). For males, the delicate play between the parasympathetic and sympathetic nervous systems is vital to achieve orgasm. For females, the autonomic component is more complex. The clitoris is the primary anatomical feature for female orgasm, including its migration toward the anterior vaginal wall. In conclusions, orgasms are complex phenomena involving psychological, physiological, and anatomic variation. While these variations predispose people to certain sexual function, future research should explore how to surgically or medically alter these. Clin. Anat. 29:665-672, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Common variants APOC3, APOA5, APOE and PON1 are associated with variation in plasma lipoprotein traits in Greenlanders.

PubMed

Lahiry, Piya; Ban, Matthew R; Pollex, Rebecca L; Feldman, Ross D; Sawyez, Cynthia G; Huff, Murray W; Young, T Kue; Bjerregaard, Peter; Hegele, Robert A

2007-12-01

We undertook studies of the association between common genomic variations in APOC3, APOA5, APOE and PON1 genes and variation in biochemical phenotypes in a sample of Greenlanders. Genetic association study of quantitative lipoprotein traits. In a sample of 1,310 adult Greenlanders, fasting plasma lipid, lipoprotein and apolipoprotein (apo) concentrations were assessed for association with known functional genomic variants of APOC3, APOA5, APOE and PON1. For significantly associated polymorphisms, between-genotype differences were examined in closer detail. We found that (1) the APOE restriction isotype was associated with variation in plasma total and LDL cholesterol and apo B (all p < .0001); (2) the APOC3 promoter genotype was associated with variation in plasma triglycerides, HDL cholesterol and apo A-I (all p < .002); (3) the APOA5 codon 19 genotype was associated with variation in plasma triglycerides (p = .027); and (4) the PON1 codon 192 genotype was associated with variation in total and LDL cholesterol and apo B (all p < .05). Taken together, our results suggest that common genetic variations in APOC3, APOA5, APOE and PON1 are associated with significant variation in intermediate traits in plasma lipoprotein metabolism in Greenlanders; the associations are similar to those observed for these variants in other populations.

Individual variation and the endocrine regulation of behaviour and physiology in birds: a cellular/molecular perspective.

PubMed

Ball, Gregory F; Balthazart, Jacques

2008-05-12

Investigations of the cellular and molecular mechanisms of physiology and behaviour have generally avoided attempts to explain individual differences. The goal has rather been to discover general processes. However, understanding the causes of individual variation in many phenomena of interest to avian eco-physiologists will require a consideration of such mechanisms. For example, in birds, changes in plasma concentrations of steroid hormones are important in the activation of social behaviours related to reproduction and aggression. Attempts to explain individual variation in these behaviours as a function of variation in plasma hormone concentrations have generally failed. Cellular variables related to the effectiveness of steroid hormone have been useful in some cases. Steroid hormone target sensitivity can be affected by variables such as metabolizing enzyme activity, hormone receptor expression as well as receptor cofactor expression. At present, no general theory has emerged that might provide a clear guidance when trying to explain individual variability in birds or in any other group of vertebrates. One strategy is to learn from studies of large units of intraspecific variation such as population or sex differences to provide ideas about variables that might be important in explaining individual variation. This approach along with the use of newly developed molecular genetic tools represents a promising avenue for avian eco-physiologists to pursue.

Correlation analysis of the variation of weld seam and tensile strength in laser welding of galvanized steel

NASA Astrophysics Data System (ADS)

Sinha, Amit Kumar; Kim, Duck Young; Ceglarek, Darek

2013-10-01

Many advantages of laser welding technology such as high speed and non-contact welding make the use of the technology more attractive in the automotive industry. Many studies have been conducted to search the optimal welding condition experimentally that ensure the joining quality of laser welding that relies both on welding system configuration and welding parameter specification. Both non-destructive and destructive techniques, for example, ultrasonic inspection and tensile test are widely used in practice for estimating the joining quality. Non-destructive techniques are attractive as a rapid quality testing method despite relatively low accuracy. In this paper, we examine the relationship between the variation of weld seam and tensile shear strength in the laser welding of galvanized steel in a lap joint configuration in order to investigate the potential of the variation of weld seam as a joining quality estimator. From the experimental analysis, we identify a trend in between maximum tensile shear strength and the variation of weld seam that clearly supports the fact that laser welded parts having larger variation in the weld seam usually have lower tensile strength. The discovered relationship leads us to conclude that the variation of weld seam can be used as an indirect non-destructive testing method for estimating the tensile strength of the welded parts.

Parallel or convergent evolution in human population genomic data revealed by genotype networks.

PubMed

R Vahdati, Ali; Wagner, Andreas

2016-08-02

Genotype networks are representations of genetic variation data that are complementary to phylogenetic trees. A genotype network is a graph whose nodes are genotypes (DNA sequences) with the same broadly defined phenotype. Two nodes are connected if they differ in some minimal way, e.g., in a single nucleotide. We analyze human genome variation data from the 1,000 genomes project, and construct haploid genotype (haplotype) networks for 12,235 protein coding genes. The structure of these networks varies widely among genes, indicating different patterns of variation despite a shared evolutionary history. We focus on those genes whose genotype networks show many cycles, which can indicate homoplasy, i.e., parallel or convergent evolution, on the sequence level. For 42 genes, the observed number of cycles is so large that it cannot be explained by either chance homoplasy or recombination. When analyzing possible explanations, we discovered evidence for positive selection in 21 of these genes and, in addition, a potential role for constrained variation and purifying selection. Balancing selection plays at most a small role. The 42 genes with excess cycles are enriched in functions related to immunity and response to pathogens. Genotype networks are representations of genetic variation data that can help understand unusual patterns of genomic variation.

Sequence variation of the feline immunodeficiency virus genome and its clinical relevance.

PubMed

Stickney, A L; Dunowska, M; Cave, N J

2013-06-08

The ongoing evolution of feline immunodeficiency virus (FIV) has resulted in the existence of a diverse continuum of viruses. FIV isolates differ with regards to their mutation and replication rates, plasma viral loads, cell tropism and the ability to induce apoptosis. Clinical disease in FIV-infected cats is also inconsistent. Genomic sequence variation of FIV is likely to be responsible for some of the variation in viral behaviour. The specific genetic sequences that influence these key viral properties remain to be determined. With knowledge of the specific key determinants of pathogenicity, there is the potential for veterinarians in the future to apply this information for prognostic purposes. Genomic sequence variation of FIV also presents an obstacle to effective vaccine development. Most challenge studies demonstrate acceptable efficacy of a dual-subtype FIV vaccine (Fel-O-Vax FIV) against FIV infection under experimental settings; however, vaccine efficacy in the field still remains to be proven. It is important that we discover the key determinants of immunity induced by this vaccine; such data would compliment vaccine field efficacy studies and provide the basis to make informed recommendations on its use.

Urban Land: Study of Surface Run-off Composition and Its Dynamics

NASA Astrophysics Data System (ADS)

Palagin, E. D.; Gridneva, M. A.; Bykova, P. G.

2017-11-01

The qualitative composition of urban land surface run-off is liable to significant variations. To study surface run-off dynamics, to examine its behaviour and to discover reasons of these variations, it is relevant to use the mathematical apparatus technique of time series analysis. A seasonal decomposition procedure was applied to a temporary series of monthly dynamics with the annual frequency of seasonal variations in connection with a multiplicative model. The results of the quantitative chemical analysis of surface wastewater of the 22nd Partsjezd outlet in Samara for the period of 2004-2016 were used as basic data. As a result of the analysis, a seasonal pattern of variations in the composition of surface run-off in Samara was identified. Seasonal indices upon 15 waste-water quality indicators were defined. BOD (full), suspended materials, mineralization, chlorides, sulphates, ammonium-ion, nitrite-anion, nitrate-anion, phosphates (phosphorus), iron general, copper, zinc, aluminium, petroleum products, synthetic surfactants (anion-active). Based on the seasonal decomposition of the time series data, the contribution of trends, seasonal and accidental components of the variability of the surface run-off indicators was estimated.

Genomic analysis reveals major determinants of cis-regulatory variation in Capsella grandiflora

PubMed Central

Steige, Kim A.; Laenen, Benjamin; Reimegård, Johan; Slotte, Tanja

2017-01-01

Understanding the causes of cis-regulatory variation is a long-standing aim in evolutionary biology. Although cis-regulatory variation has long been considered important for adaptation, we still have a limited understanding of the selective importance and genomic determinants of standing cis-regulatory variation. To address these questions, we studied the prevalence, genomic determinants, and selective forces shaping cis-regulatory variation in the outcrossing plant Capsella grandiflora. We first identified a set of 1,010 genes with common cis-regulatory variation using analyses of allele-specific expression (ASE). Population genomic analyses of whole-genome sequences from 32 individuals showed that genes with common cis-regulatory variation (i) are under weaker purifying selection and (ii) undergo less frequent positive selection than other genes. We further identified genomic determinants of cis-regulatory variation. Gene body methylation (gbM) was a major factor constraining cis-regulatory variation, whereas presence of nearby transposable elements (TEs) and tissue specificity of expression increased the odds of ASE. Our results suggest that most common cis-regulatory variation in C. grandiflora is under weak purifying selection, and that gene-specific functional constraints are more important for the maintenance of cis-regulatory variation than genome-scale variation in the intensity of selection. Our results agree with previous findings that suggest TE silencing affects nearby gene expression, and provide evidence for a link between gbM and cis-regulatory constraint, possibly reflecting greater dosage sensitivity of body-methylated genes. Given the extensive conservation of gbM in flowering plants, this suggests that gbM could be an important predictor of cis-regulatory variation in a wide range of plant species. PMID:28096395

Variation and Commonality in Phenomenographic Research Methods

ERIC Educational Resources Information Center

Akerlind, Gerlese S.

2012-01-01

This paper focuses on the data analysis stage of phenomenographic research, elucidating what is involved in terms of both commonality and variation in accepted practice. The analysis stage of phenomenographic research is often not well understood. This paper helps to clarify the process, initially by collecting together in one location the more…

Genetic variation in resistance to pine pitch canker and western gall rust in Monterey pine (Pinus radiata D. Don): Results from a three-country collaborative field trial

Treesearch

A.C. Matheson; W.R. Mark; G. Stovold; C. Balocchi; N. Smith; C. Brassey

2012-01-01

In 1998, Australia, Chile, and New Zealand agreed to work together in a program designed to test their elite breeding lines and to test for the genetics of resistance to pitch canker (causative organism Fusarium circinatum). Pitch canker was first discovered in the United States in 1946 and in California in 1986. The first discoveries in California...

New quenching media

DOE Office of Scientific and Technical Information (OSTI.GOV)

Voroshilov, V.A.; Kamenev, V.D.; Kochurkina, Yu.I.

This study investigates a wide range of substances to discover a high quality quenching medium. The medium must have the possibility of variation of cooling ability, fire resistance, and nontoxicity, and be available, simple, and safe. Surfactants, liquids, organosilicon compounds, and water soluble polymerics were surveyed and rejected. In aqueous solutions the cooling properties worsened during heating. Modified celluloses (polyethylenepolymine) and sulfite liquor were also studied. These were determined to be the most promising quenching media, and were tested and detailed.

Pathway-based factor analysis of gene expression data produces highly heritable phenotypes that associate with age.

PubMed

Anand Brown, Andrew; Ding, Zhihao; Viñuela, Ana; Glass, Dan; Parts, Leopold; Spector, Tim; Winn, John; Durbin, Richard

2015-03-09

Statistical factor analysis methods have previously been used to remove noise components from high-dimensional data prior to genetic association mapping and, in a guided fashion, to summarize biologically relevant sources of variation. Here, we show how the derived factors summarizing pathway expression can be used to analyze the relationships between expression, heritability, and aging. We used skin gene expression data from 647 twins from the MuTHER Consortium and applied factor analysis to concisely summarize patterns of gene expression to remove broad confounding influences and to produce concise pathway-level phenotypes. We derived 930 "pathway phenotypes" that summarized patterns of variation across 186 KEGG pathways (five phenotypes per pathway). We identified 69 significant associations of age with phenotype from 57 distinct KEGG pathways at a stringent Bonferroni threshold ([Formula: see text]). These phenotypes are more heritable ([Formula: see text]) than gene expression levels. On average, expression levels of 16% of genes within these pathways are associated with age. Several significant pathways relate to metabolizing sugars and fatty acids; others relate to insulin signaling. We have demonstrated that factor analysis methods combined with biological knowledge can produce more reliable phenotypes with less stochastic noise than the individual gene expression levels, which increases our power to discover biologically relevant associations. These phenotypes could also be applied to discover associations with other environmental factors. Copyright © 2015 Brown et al.

Pathway-Based Factor Analysis of Gene Expression Data Produces Highly Heritable Phenotypes That Associate with Age

PubMed Central

Anand Brown, Andrew; Ding, Zhihao; Viñuela, Ana; Glass, Dan; Parts, Leopold; Spector, Tim; Winn, John; Durbin, Richard

2015-01-01

Statistical factor analysis methods have previously been used to remove noise components from high-dimensional data prior to genetic association mapping and, in a guided fashion, to summarize biologically relevant sources of variation. Here, we show how the derived factors summarizing pathway expression can be used to analyze the relationships between expression, heritability, and aging. We used skin gene expression data from 647 twins from the MuTHER Consortium and applied factor analysis to concisely summarize patterns of gene expression to remove broad confounding influences and to produce concise pathway-level phenotypes. We derived 930 “pathway phenotypes” that summarized patterns of variation across 186 KEGG pathways (five phenotypes per pathway). We identified 69 significant associations of age with phenotype from 57 distinct KEGG pathways at a stringent Bonferroni threshold (P<5.38×10−5). These phenotypes are more heritable (h2=0.32) than gene expression levels. On average, expression levels of 16% of genes within these pathways are associated with age. Several significant pathways relate to metabolizing sugars and fatty acids; others relate to insulin signaling. We have demonstrated that factor analysis methods combined with biological knowledge can produce more reliable phenotypes with less stochastic noise than the individual gene expression levels, which increases our power to discover biologically relevant associations. These phenotypes could also be applied to discover associations with other environmental factors. PMID:25758824

Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis)

PubMed Central

Fingert, John H.; Robin, Alan L.; Scheetz, Todd E.; Kwon, Young H.; Liebmann, Jeffrey M.; Ritch, Robert; Alward, Wallace L.M.

2016-01-01

Purpose To investigate the role of TANK-binding kinase 1 (TBK1) gene copy-number variations (ie, gene duplications and triplications) in the pathophysiology of various open-angle glaucomas. Methods In previous studies, we discovered that copy-number variations in the TBK1 gene are associated with normal-tension glaucoma. Here, we investigated the prevalence of copy-number variations in cohorts of patients with other open-angle glaucomas—juvenile-onset open-angle glaucoma (n=30), pigmentary glaucoma (n=209), exfoliation glaucoma (n=225), and steroid-induced glaucoma (n=79)—using a quantitative polymerase chain reaction assay. Results No TBK1 gene copy-number variations were detected in patients with juvenile-onset open-angle glaucoma, pigmentary glaucoma, or steroid-induced glaucoma. A TBK1 gene duplication was detected in one (0.44%) of the 225 exfoliation glaucoma patients. Conclusions TBK1 gene copy-number variations (gene duplications and triplications) have been previously associated with normal-tension glaucoma. An exploration of other open-angle glaucomas detected a TBK1 copy-number variation in a patient with exfoliation glaucoma, which is the first example of a TBK1 mutation in a glaucoma patient with a diagnosis other than normal-tension glaucoma. A broader phenotypic range may be associated with TBK1 copy-number variations, although mutations in this gene are most often detected in patients with normal-tension glaucoma. PMID:27881886

Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).

PubMed

Fingert, John H; Robin, Alan L; Scheetz, Todd E; Kwon, Young H; Liebmann, Jeffrey M; Ritch, Robert; Alward, Wallace L M

2016-08-01

To investigate the role of TANK-binding kinase 1 ( TBK1 ) gene copy-number variations (ie, gene duplications and triplications) in the pathophysiology of various open-angle glaucomas. In previous studies, we discovered that copy-number variations in the TBK1 gene are associated with normal-tension glaucoma. Here, we investigated the prevalence of copy-number variations in cohorts of patients with other open-angle glaucomas-juvenile-onset open-angle glaucoma (n=30), pigmentary glaucoma (n=209), exfoliation glaucoma (n=225), and steroid-induced glaucoma (n=79)-using a quantitative polymerase chain reaction assay. No TBK1 gene copy-number variations were detected in patients with juvenile-onset open-angle glaucoma, pigmentary glaucoma, or steroid-induced glaucoma. A TBK1 gene duplication was detected in one (0.44%) of the 225 exfoliation glaucoma patients. TBK1 gene copy-number variations (gene duplications and triplications) have been previously associated with normal-tension glaucoma. An exploration of other open-angle glaucomas detected a TBK1 copy-number variation in a patient with exfoliation glaucoma, which is the first example of a TBK1 mutation in a glaucoma patient with a diagnosis other than normal-tension glaucoma. A broader phenotypic range may be associated with TBK1 copy-number variations, although mutations in this gene are most often detected in patients with normal-tension glaucoma.

Discovering the Common Grading Preferences, Patterns, and Policies of Those Who Assess Writing

ERIC Educational Resources Information Center

Chowske, Rebecca Dunn

2013-01-01

Although considerable attention has been directed at improving the quality of students' writing, the investigation and definition of "good writing" has remained primarily within the realm of the normative and prescriptive. Social scientists and humanists often clash over the definition of valid and reliable writing assessment, as well as…

Operationalizing Place: Discovering, Reasoning about, and Exploring Place Knowledge from Descriptions

ERIC Educational Resources Information Center

Adams, Benjamin Thomas

2012-01-01

Places and place types, such as "small town", play a fundamental role in how people organize knowledge about the world. Although places are commonly referenced in human communication, often they are not canonically defined and many of the properties people associate with them have proved difficult to operationalize. In information…

The Importance of "Mountain Top Experiences" in Discovering Self

ERIC Educational Resources Information Center

Seney, Robert W.

2016-01-01

This paper begins a discussion of the importance of moments of inspiration, or as they are commonly called "mountain top experiences", in the development of the Self, as defined by Annemarie Roeper. In considering the spiritual nature of gifted children, a long overdue discussion, the concept of Self or self-awareness is often reflected…

QUANTITATION OF PERCHLORATE ION: PRACTICES AND ADVANCES APPLIED TO THE ANALYSIS OF COMMON MATRICES

EPA Science Inventory

In 1997, low level perchlorate contamination (<50 ng mL-1 or parts per billion) was discovered in the western United States. Since that time, it has been found in sites scattered around the nation. Although the Environmental Protection Agency has not established a regulation fo...

Promotion in Call Centres: Opportunities and Determinants

ERIC Educational Resources Information Center

Gorjup, Maria Tatiana; Valverde, Mireia; Ryan, Gerard

2008-01-01

Purpose: The purpose of this paper is to examine the quality of jobs in call centres by focusing on the opportunities for promotion in this sector. More specifically, the research questions focus on discovering whether promotion is common practise in the call centre sector and on identifying the factors that affect this.…

Lympho-glandular toxoplasmosis. A diagnosis often missed.

PubMed

Lake, K B; Van Dyke, J J; Abts, R M; Moyes, D R

1979-01-01

Lymphoglandular toxoplasmosis has a reputation for mimicking several other diseases, especially infectious mononucleosis. Thus, the correct diagnosis often is not discovered until common conditions have been ruled out and the patient has been subjected to excisional lymph node biopsy. The physician who considers toxoplasmosis early and orders appropriate serologic tests can spare the patient unnecessary surgery.

Engaging College Students on a Community Engagement with High School Students with Disabilities

ERIC Educational Resources Information Center

Lawler, James; Joseph, Anthony; Narula, Stuti

2014-01-01

Community engagement is a common course in college curricula of computer science and information systems. In this study, the authors analyze the benefits of digital storytelling, in a course engaging college students with high school students with disabilities. The authors discover that a project of storytelling progressively enables high…

NREL Scientist Brian Gregg Named AAAS Fellow | News | NREL

Science.gov Websites

discovered an entirely new photovoltaic effect. Even when sandwiched between two identical electrodes (i.e ., with zero bandbending) a PV effect is observed in these devices. Such an observation was unprecedented and challenged common assumptions about how solar cells work. This research set off a lifelong passion

Using Paper Helicopters to Teach Statistical Process Control

ERIC Educational Resources Information Center

Johnson, Danny J.

2011-01-01

This hands-on project uses a paper helicopter to teach students how to distinguish between common and special causes of variability when developing and using statistical process control charts. It allows the student to experience a process that is out-of-control due to imprecise or incomplete product design specifications and to discover how the…

An Interactive Science Blog at UCF for High School Science Students

ERIC Educational Resources Information Center

Paredes, Jesus; del Barco, Enrique

2010-01-01

High school physics students are often capable of, and commonly interested in, understanding natural phenomena beyond those described in their textbooks. In order to supplement the shortage of topics covered in their physics courses, many students turn to popular scientific books, journals, and other media. There, they discover a plethora of…

7 CFR 407.9 - Group risk plan common policy.

Code of Federal Regulations, 2011 CFR

2011-01-01

... before May 22, 2008, and on which the plant cover is composed principally of native grasses, grass-like... the information; or (4) As expressly permitted by the policy. (h) If we discover you have incorrectly... recognized for the county; (h) A written agreement will be denied unless FCIC approves the written agreement...

How Big Is a 16-Penny Nail? A Measurement Lesson for Middle Grades

ERIC Educational Resources Information Center

Engel, Bill; Schmidt, Diane L.

2004-01-01

Many common objects can provide numerous opportunities for students to develop mathematical concepts and skills. The lesson described in this article provided an excellent opportunity for middle school students to discover how real-life situations do not always present obvious "right" answers. As students explored a question related to the…

Using Spreadsheets to Discover Meaning for Parameters in Nonlinear Models

ERIC Educational Resources Information Center

Green, Kris H.

2008-01-01

This paper explores the use of spreadsheets to develop an exploratory environment where mathematics students can develop their own understanding of the parameters of commonly encountered families of functions: linear, logarithmic, exponential and power. The key to this understanding involves opening up the definition of rate of change from the…

Ethical Dilemmas of Swedish School Leaders: Contrasts and Common Themes

ERIC Educational Resources Information Center

Norberg, Katarina; Johansson, Olof

2007-01-01

Being a skillful school leader presumes the competence to judge the ethical consequences of actions. This implies a need for all school agents to discover and analyze what values are at stake and, in turn, reconcile didactic rationality with ethical rationality. This article aims to explore ethical dilemmas in daily school practice, experienced…

Teacher Attitudes on Including Students with Behavior Intervention Plans in a High-School Inclusive Classroom

ERIC Educational Resources Information Center

Tucker, Thurman D.

2017-01-01

This research examined attitudes to determine factors influencing teachers' attitudes toward including students with behavior intervention plans in inclusive high-school classrooms. For Research Question 1 one-way ANOVAs analyzed quantitative data with no significant differences found and qualitative data discovered common patterns that BIPs are…

Rivers Run Through It: Discovering the Interior Columbia River Basin.

ERIC Educational Resources Information Center

Davis, Shelley; Wojtanik, Brenda Lincoln; Rieben, Elizabeth

1998-01-01

Explores the Columbia River Basin, its ecosystems, and challenges faced by natural resource managers. By studying the basin's complexity, students can learn about common scientific concepts such as the power of water and effects of rain shadows. Students can also explore social-scientific issues such as conflicts between protecting salmon runs and…

Recombinant Newcastle disease virus Anhinga Strain (NDV/Anh-EGFP) for Hepatoma Therapy

USDA-ARS?s Scientific Manuscript database

Hepatocellular carcinoma remains one of the most common malignant tumors in the world. Newcastle disease virus (NDV) has been proved to be an efficient oncolytic agent. NDV tumor killing efficacy is not only depending on the NDV strain but the type of tumor targeted. It is significant to discover mo...

Why Some Teachers Resist Change and What Principals Can Do about It

ERIC Educational Resources Information Center

Zimmerman, Judith

2006-01-01

Schools across the country are pressured to reform by federal and state mandates. Because resistance is a major factor in reform failure, it is crucial for principals to discover why teachers resist change. This article explores the leadership and organizational change literature regarding some common barriers to change. Research-based strategies…

Discovering potential Streptomyces hormone producers by using disruptants of essential biosynthetic genes as indicator strains.

PubMed

Thao, Nguyen B; Kitani, Shigeru; Nitta, Hiroko; Tomioka, Toshiya; Nihira, Takuya

2017-10-01

Autoregulators are low-molecular-weight signaling compounds that control the production of many secondary metabolites in actinomycetes and have been referred to as 'Streptomyces hormones'. Here, potential producers of Streptomyces hormones were investigated in 40 Streptomyces and 11 endophytic actinomycetes. Production of γ-butyrolactone-type (IM-2, VB) and butenolide-type (avenolide) Streptomyces hormones was screened using Streptomyces lavendulae FRI-5 (ΔfarX), Streptomyces virginiae (ΔbarX) and Streptomyces avermitilis (Δaco), respectively. In these strains, essential biosynthetic genes for Streptomyces hormones were disrupted, enabling them to respond solely to the externally added hormones. The results showed that 20% of each of the investigated strains produced IM-2 and VB, confirming that γ-butyrolactone-type Streptomyces hormones are the most common in actinomycetes. Unlike the γ-butyrolactone type, butenolide-type Streptomyces hormones have been discovered in recent years, but their distribution has been unclear. Our finding that 24% of actinomycetes (12 of 51 strains) showed avenolide activity revealed for the first time that the butenolide-type Streptomyces hormone is also common in actinomycetes.

Exploring Spatial Patterns of Colorectal Cancer in Tehran City, Iran

PubMed

Mansori, Kamyar; Mosavi-Jarrahi, Alireza; Ganbary Motlagh, Ali; Solaymani-Dodaran, Masoud; Salehi, Masoud; Delavari, Alireza; Sanjari Moghaddam, Ali; Asadi-Lari, Mohsen

2018-04-27

Objectives: Colorectal cancer (CRC) may now be the second most common cancer in the world. The aim of this study was to determine whether clusters of high and low risk of CRC might exist at the neighborhood level in Tehran city. Methods: In this study, new cases of CRC provided from Cancer Registry Data of the Management Center of Ministry of Health and Medical Education of Iran in the period from March 2008 to March 2011 were analyzed. Raw standardized incidence rates (SIRs) were calculated for CRC in each neighborhood, along with ratios of observed to expected cases. The York and Mollie (BYM) spatial model was used for smoothing of the estimated raw SIRs. To discover clusters of high and low CRC incidence a purely spatial scan statistic was applied. Results: A total of 2,815 new cases of CRC were identified and after removal of duplicate cases, 2,491 were geocoded to neighborhoods. The locations with higher than expected incidence of CRC were northern and central districts of Tehran city. An observed to expected ratio of 2.57 (p<0.001) was found for districts of 2, 6 and 11, whereas, the lowest ratio of 0.23 (p<0.001) was apparent for northeast and south areas of the city, including district 4. Conclusions: This study showed that there is a significant spatial variation in patterns of incidence of CRC at the neighborhood level in Tehran city. Identification of such spatial patterns and assessment of underlying risk factors can provide valuable information for policymakers responsible for equitable distribution of healthcare resources. Creative Commons Attribution License

Non-destructive testing of layer-to-layer fusion of a 3D print using ultrahigh resolution optical coherence tomography

NASA Astrophysics Data System (ADS)

Israelsen, Niels M.; Maria, Michael; Feuchter, Thomas; Podoleanu, Adrian; Bang, Ole

2017-06-01

Within the last decade, 3D printing has moved from a costly approach of building mechanical items to the present state-of-the-art phase where access to 3D printers is now common, both in industry and in private places. The plastic printers are the most common type of 3D printers providing prints that are light, robust and of lower cost. The robustness of the structure printed is only maintained if each layer printed is properly fused to its previously printed layers. In situations where the printed component has to accomplish a key mechanical role there is a need to characterize its mechanical strength. This may only be revealed by in-depth testing in order to discover unwanted air-gaps in the structure. Optical coherence tomography (OCT) is an in-depth imaging method, that is sensitive to variations in the refractive index and therefore can resolve with high resolution translucid samples. We report on volume imaging of a 3D printed block made with 100% PLA fill. By employing ultrahigh resolution OCT (UHR-OCT) we show that some parts of the PLA volume reveal highly scattering interfaces which likely correspond to transitions from one layer to another. In doing so, we document that UHR-OCT can act as a powerful tool that can be used in detecting fractures between layers stemming from insufficient fusion between printed structure layers. UHR-OCT can therefore serve as an useful assessment method of quality of 3D prints.

Population genetics of chronic kidney disease: the evolving story of APOL1.

PubMed

Wasser, Walter G; Tzur, Shay; Wolday, Dawit; Adu, Dwomoa; Baumstein, Donald; Rosset, Saharon; Skorecki, Karl

2012-01-01

Advances in human genome sequencing and generation of public databases of genomic diversity enable nephrologists to re-examine the genetics of common, complex kidney diseases. Non-diabetic kidney diseases prevalent in African ancestry populations and the allelic variation described in chromosome 22q12.3 is one such illustrative example. Newly available genomic database information enabled research groups to discover common functional DNA sequence risk variants in the APOL1 gene. These variants (termed G1 and G2) evolved to confer protection from a species of trypanosomal infection and thus achieved high prominence in many geographic regions of Africa and have been carried over to African diaspora communities worldwide. Since these discoveries two years ago, new insights have been gained: localization of APOL1 in normal and disease kidney tissues; influence of the APOL1 variants on the histopathology of HIV kidney disease; possible association with kidney transplant durability; onset of kidney failure at a younger age; association with blood lipid concentrations; more precise geographic localization of individuals with these variants to western and southern African ancestry; and the absence of the variants and kidney disease predisposition in Ethiopians. The definition of APOL1 nephropathy also confirms the long-held assumption by many clinicians that kidney disease attributed to hypertension in African populations represents an underlying glomerulopathy. Still awaited is the delineation of the biologic mechanisms of cellular injury related to these variants, to provide biologic proof of the APOL1 association and to provide potential targets for preventive and therapeutic intervention.

Depression is not a consistent syndrome: An investigation of unique symptom patterns in the STAR*D study.

PubMed

Fried, Eiko I; Nesse, Randolph M

2015-02-01

The DSM-5 encompasses a wide range of symptoms for Major Depressive Disorder (MDD). Symptoms are commonly added up to sum-scores, and thresholds differentiate between healthy and depressed individuals. The underlying assumption is that all patients diagnosed with MDD have a similar condition, and that sum-scores accurately reflect the severity of this condition. To test this assumption, we examined the number of DSM-5 depression symptom patterns in the "Sequenced Treatment Alternatives to Relieve Depression" (STAR*D) study. We investigated the number of unique symptom profiles reported by 3703 depressed outpatients at the beginning of the first treatment stage of STAR*D. Overall, we identified 1030 unique symptom profiles. Of these profiles, 864 profiles (83.9%) were endorsed by five or fewer subjects, and 501 profiles (48.6%) were endorsed by only one individual. The most common symptom profile exhibited a frequency of only 1.8%. Controlling for overall depression severity did not reduce the amount of observed heterogeneity. Symptoms were dichotomized to construct symptom profiles. Many subjects enrolled in STAR*D reported medical conditions for which prescribed medications may have affected symptom presentation. The substantial symptom variation among individuals who all qualify for one diagnosis calls into question the status of MDD as a specific consistent syndrome and offers a potential explanation for the difficulty in documenting treatment efficacy. We suggest that the analysis of individual symptoms, their patterns, and their causal associations will provide insights that could not be discovered in studies relying on only sum-scores. Copyright © 2014 Elsevier B.V. All rights reserved.

Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study.

PubMed

Murray, Anna; Bennett, Claire E; Perry, John R B; Weedon, Michael N; Jacobs, Patricia A; Morris, Danielle H; Orr, Nicholas; Schoemaker, Minouk J; Jones, Michael; Ashworth, Alan; Swerdlow, Anthony J

2011-01-01

Women become infertile approximately 10 years before menopause, and as more women delay childbirth into their 30s, the number of women who experience infertility is likely to increase. Tests that predict the timing of menopause would allow women to make informed reproductive decisions. Current predictors are only effective just prior to menopause, and there are no long-range indicators. Age at menopause and early menopause (EM) are highly heritable, suggesting a genetic aetiology. Recent genome-wide scans have identified four loci associated with variation in the age of normal menopause (40-60 years). We aimed to determine whether theses loci are also risk factors for EM. We tested the four menopause-associated genetic variants in a cohort of approximately 2000 women with menopause≤45 years from the Breakthrough Generations Study (BGS). All four variants significantly increased the odds of having EM. Comparing the 4.5% of individuals with the lowest number of risk alleles (two or three) with the 3.0% with the highest number (eight risk alleles), the odds ratio was 4.1 (95% CI 2.4-7.1, P=4.0×10(-7)). In combination, the four variants discriminated EM cases with a receiver operator characteristic area under the curve of 0.6. Four common genetic variants identified by genome-wide association studies, had a significant impact on the odds of having EM in an independent cohort from the BGS. The discriminative power is still limited, but as more variants are discovered they may be useful for predicting reproductive lifespan.

Natural Variation of the Circadian Clock in Neurospora.

PubMed

Koritala, Bala S C; Lee, Kwangwon

2017-01-01

Most living organisms on earth experience daily and expected changes from the rotation of the earth. For an organism, the ability to predict and prepare for incoming stresses or resources is a very important skill for survival. This cellular process of measuring daily time of the day is collectively called the circadian clock. Because of its fundamental role in survival in nature, there is a great interest in studying the natural variation of the circadian clock. However, characterizing the genetic and molecular mechanisms underlying natural variation of circadian clocks remains a challenging task. In this chapter, we will summarize the progress in studying natural variation of the circadian clock in the successful eukaryotic model Neurospora, which led to discovering many design principles of the molecular mechanisms of the eukaryotic circadian clock. Despite the success of the system in revealing the molecular mechanisms of the circadian clock, Neurospora has not been utilized to extensively study natural variation. We will review the challenges that hindered the natural variation studies in Neurospora, and how they were overcome. We will also review the advantages of Neurospora for natural variation studies. Since Neurospora is the model fungal species for circadian study, it represents over 5 million species of fungi on earth. These fungi play important roles in ecosystems on earth, and as such Neurospora could serve as an important model for understanding the ecological role of natural variation in fungal circadian clocks. © 2017 Elsevier Inc. All rights reserved.

Congruence of Additive and Non-Additive Effects on Gene Expression Estimated from Pedigree and SNP Data

PubMed Central

Powell, Joseph E.; Henders, Anjali K.; McRae, Allan F.; Kim, Jinhee; Hemani, Gibran; Martin, Nicholas G.; Dermitzakis, Emmanouil T.; Gibson, Greg

2013-01-01

There is increasing evidence that heritable variation in gene expression underlies genetic variation in susceptibility to disease. Therefore, a comprehensive understanding of the similarity between relatives for transcript variation is warranted—in particular, dissection of phenotypic variation into additive and non-additive genetic factors and shared environmental effects. We conducted a gene expression study in blood samples of 862 individuals from 312 nuclear families containing MZ or DZ twin pairs using both pedigree and genotype information. From a pedigree analysis we show that the vast majority of genetic variation across 17,994 probes is additive, although non-additive genetic variation is identified for 960 transcripts. For 180 of the 960 transcripts with non-additive genetic variation, we identify expression quantitative trait loci (eQTL) with dominance effects in a sample of 339 unrelated individuals and replicate 31% of these associations in an independent sample of 139 unrelated individuals. Over-dominance was detected and replicated for a trans association between rs12313805 and ETV6, located 4MB apart on chromosome 12. Surprisingly, only 17 probes exhibit significant levels of common environmental effects, suggesting that environmental and lifestyle factors common to a family do not affect expression variation for most transcripts, at least those measured in blood. Consistent with the genetic architecture of common diseases, gene expression is predominantly additive, but a minority of transcripts display non-additive effects. PMID:23696747

Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data.

PubMed

Powell, Joseph E; Henders, Anjali K; McRae, Allan F; Kim, Jinhee; Hemani, Gibran; Martin, Nicholas G; Dermitzakis, Emmanouil T; Gibson, Greg; Montgomery, Grant W; Visscher, Peter M

2013-05-01

There is increasing evidence that heritable variation in gene expression underlies genetic variation in susceptibility to disease. Therefore, a comprehensive understanding of the similarity between relatives for transcript variation is warranted--in particular, dissection of phenotypic variation into additive and non-additive genetic factors and shared environmental effects. We conducted a gene expression study in blood samples of 862 individuals from 312 nuclear families containing MZ or DZ twin pairs using both pedigree and genotype information. From a pedigree analysis we show that the vast majority of genetic variation across 17,994 probes is additive, although non-additive genetic variation is identified for 960 transcripts. For 180 of the 960 transcripts with non-additive genetic variation, we identify expression quantitative trait loci (eQTL) with dominance effects in a sample of 339 unrelated individuals and replicate 31% of these associations in an independent sample of 139 unrelated individuals. Over-dominance was detected and replicated for a trans association between rs12313805 and ETV6, located 4MB apart on chromosome 12. Surprisingly, only 17 probes exhibit significant levels of common environmental effects, suggesting that environmental and lifestyle factors common to a family do not affect expression variation for most transcripts, at least those measured in blood. Consistent with the genetic architecture of common diseases, gene expression is predominantly additive, but a minority of transcripts display non-additive effects.

Statistical process control charts for attribute data involving very large sample sizes: a review of problems and solutions.

PubMed

Mohammed, Mohammed A; Panesar, Jagdeep S; Laney, David B; Wilson, Richard

2013-04-01

The use of statistical process control (SPC) charts in healthcare is increasing. The primary purpose of SPC is to distinguish between common-cause variation which is attributable to the underlying process, and special-cause variation which is extrinsic to the underlying process. This is important because improvement under common-cause variation requires action on the process, whereas special-cause variation merits an investigation to first find the cause. Nonetheless, when dealing with attribute or count data (eg, number of emergency admissions) involving very large sample sizes, traditional SPC charts often produce tight control limits with most of the data points appearing outside the control limits. This can give a false impression of common and special-cause variation, and potentially misguide the user into taking the wrong actions. Given the growing availability of large datasets from routinely collected databases in healthcare, there is a need to present a review of this problem (which arises because traditional attribute charts only consider within-subgroup variation) and its solutions (which consider within and between-subgroup variation), which involve the use of the well-established measurements chart and the more recently developed attribute charts based on Laney's innovative approach. We close by making some suggestions for practice.

Data Mining Citizen Science Results

NASA Astrophysics Data System (ADS)

Borne, K. D.

2012-12-01

Scientific discovery from big data is enabled through multiple channels, including data mining (through the application of machine learning algorithms) and human computation (commonly implemented through citizen science tasks). We will describe the results of new data mining experiments on the results from citizen science activities. Discovering patterns, trends, and anomalies in data are among the powerful contributions of citizen science. Establishing scientific algorithms that can subsequently re-discover the same types of patterns, trends, and anomalies in automatic data processing pipelines will ultimately result from the transformation of those human algorithms into computer algorithms, which can then be applied to much larger data collections. Scientific discovery from big data is thus greatly amplified through the marriage of data mining with citizen science.

A systematic approach to adnexal masses discovered on ultrasound: the ADNEx MR scoring system.

PubMed

Sadowski, Elizabeth A; Robbins, Jessica B; Rockall, Andrea G; Thomassin-Naggara, Isabelle

2018-03-01

Adnexal lesions are a common occurrence in radiology practice and imaging plays a crucial role in triaging women appropriately. Current trends toward early detection and characterization have increased the need for accurate imaging assessment of adnexal lesions prior to treatment. Ultrasound is the first-line imaging modality for assessing adnexal lesions; however, approximately 20% of lesions are incompletely characterized after ultrasound evaluation. Secondary assessment with MR imaging using the ADNEx MR Scoring System has been demonstrated as highly accurate in the characterization of adnexal lesions and in excluding ovarian cancer. This review will address the role of MR imaging in further assessment of adnexal lesions discovered on US, and the utility of the ADNEx MR Scoring System.

Habitability in the Solar System and on Extrasolar Planets and Moons

NASA Technical Reports Server (NTRS)

McKay, Christopher P.

2015-01-01

The criteria for a habitable world initially was based on Earth and centered around liquid water on the surface, warmed by a Sun-like star. The moons of the outer Solar System, principally Europa and Enceladus, have demonstrated that liquid water can exist below the surface warmed by tidal forces from a giant planet. Titan demonstrates that surface liquids other than water - liquid methane/ethane - may be common on other worlds. Considering the numerous extrasolar planets so far discovered and the prospect of discovering extrasolar moons it is timely to reconsider the possibilities for habitability in the Solar System and on extrasolar planets and moons and enumerate the attributes and search methods for detecting habitable worlds and evidence of life.

[A new look at the tomb of the physician, Morlongo Venice].

PubMed

Pardon-Labonnelie, Muriel

2014-01-01

The development of the inventory and synthetic study of collyrium stamps, commonly known as "oculist's stamps", includes the physico-chemical analysis of rare stamped collyrium's remains. The fragments of collyrium which were discovered in a tomb of Morlungo (Veneto) are all the more remarkable as the remedy's name stamped on two of them remains enigmatic at the moment and because of the association in a funerary context with an-other thirty-five finds. More specifically, they were discovered near surgical bronze instruments, a large amount of amber, a portable sundial and a seal box. Recent archaeological, textual and technological data thus make the study of the remains of collyriums of Morlungo particularly interesting for the history of medicine.

A low-temperature companion to a white dwarf star

NASA Technical Reports Server (NTRS)

Becklin, E. E.; Zuckerman, B.

1988-01-01

An infrared object located about 120 AU from the white dwarf GD165 has been discovered. With the exception of the possible brown dwarf companion to Giclas 29-38 reported last year, the companion to GD165 is the coolest (2100 K) dwarf star ever reported and, according to some theoretical models, it should be a substellar brown dwarf with a mass between 0.06 and 0.08 solar mass. These results, together with newly discovered low-mass stellar companions to white dwarfs, change the investigation of very low-mass stars from the study of a few chance objects to that of a statistical distribution. In particular, it appears that very low-mass stars and perhaps even brown dwarfs could be quite common in the Galaxy.

Habitability in The Solar System and on Extrasolar Planets and Moons

NASA Astrophysics Data System (ADS)

McKay, C. P.

2015-12-01

The criteria for a habitable world initially was based on Earth and centered around liquid water on the surface, warmed by a Sun-like star. The moons of the outer Solar System, principally Europa and Enceladus, have demonstrated that liquid water can exist below the surface warmed by tidal forces from a giant planet. Titan demonstrates that surface liquids other than water - liquid methane/ethane - may be common on other worlds. Considering the numerous extrasolar planets so far discovered and the prospect of discovering extrasolar moons it is timely to reconsider the possibilities for habitable environments in the Solar System and on extrasolar planets and moons and enumerate the attributes and search methods for detecting habitable worlds and evidence of life.

Common variants in ZNF365 are associated with both mammographic density and breast cancer risk

PubMed Central

Lindström, Sara; Vachon, Celine M.; Li, Jingmei; Varghese, Jajini; Thompson, Deborah; Warren, Ruth; Brown, Judith; Leyland, Jean; Audley, Tina; Wareham, Nicholas J.; Loos, Ruth J.F.; Paterson, Andrew D.; Waggott, Darryl; Martin, Lisa J.; Scott, Christopher G.; Pankratz, V. Shane; Hankinson, Susan E.; Hazra, Aditi; Hunter, David J.; Hopper, John L.; Southey, Melissa C.; Chanock, Stephen J.; Silva, Isabel dos Santos; Liu, JianJun; Eriksson, Louise; Couch, Fergus J.; Stone, Jennifer; Apicella, Carmel; Czene, Kamila; Kraft, Peter; Hall, Per; Easton, Douglas F.; Boyd, Norman F.; Tamimi, Rulla M.

2011-01-01

High percent mammographic density adjusted for age and body mass index (BMI) is one of the strongest risk factors for breast cancer. We conducted a meta-analysis of five genome-wide association studies of percent mammographic density and report an association with rs10995190 in ZNF365 (combined P=9×6·10−10). This finding might partly explain the underlying biology of the recently discovered association between common variants in ZNF365 and breast cancer risk. PMID:21278746

Novel KRAS Gene Mutations in Sporadic Colorectal Cancer

PubMed Central

Naser, Walid M.; Shawarby, Mohamed A.; Al-Tamimi, Dalal M.; Seth, Arun; Al-Quorain, Abdulaziz; Nemer, Areej M. Al; Albagha, Omar M. E.

2014-01-01

Introduction In this article, we report 7 novel KRAS gene mutations discovered while retrospectively studying the prevalence and pattern of KRAS mutations in cancerous tissue obtained from 56 Saudi sporadic colorectal cancer patients from the Eastern Province. Methods Genomic DNA was extracted from formalin-fixed, paraffin-embedded cancerous and noncancerous colorectal tissues. Successful and specific PCR products were then bi-directionally sequenced to detect exon 4 mutations while Mutector II Detection Kits were used for identifying mutations in codons 12, 13 and 61. The functional impact of the novel mutations was assessed using bioinformatics tools and molecular modeling. Results KRAS gene mutations were detected in the cancer tissue of 24 cases (42.85%). Of these, 11 had exon 4 mutations (19.64%). They harbored 8 different mutations all of which except two altered the KRAS protein amino acid sequence and all except one were novel as revealed by COSMIC database. The detected novel mutations were found to be somatic. One mutation is predicted to be benign. The remaining mutations are predicted to cause substantial changes in the protein structure. Of these, the Q150X nonsense mutation is the second truncating mutation to be reported in colorectal cancer in the literature. Conclusions Our discovery of novel exon 4 KRAS mutations that are, so far, unique to Saudi colorectal cancer patients may be attributed to environmental factors and/or racial/ethnic variations due to genetic differences. Alternatively, it may be related to paucity of clinical studies on mutations other than those in codons 12, 13, 61 and 146. Further KRAS testing on a large number of patients of various ethnicities, particularly beyond the most common hotspot alleles in exons 2 and 3 is needed to assess the prevalence and explore the exact prognostic and predictive significance of the discovered novel mutations as well as their possible role in colorectal carcinogenesis. PMID:25412182

Automated Discovery of Functional Generality of Human Gene Expression Programs

PubMed Central

Gerber, Georg K; Dowell, Robin D; Jaakkola, Tommi S; Gifford, David K

2007-01-01

An important research problem in computational biology is the identification of expression programs, sets of co-expressed genes orchestrating normal or pathological processes, and the characterization of the functional breadth of these programs. The use of human expression data compendia for discovery of such programs presents several challenges including cellular inhomogeneity within samples, genetic and environmental variation across samples, uncertainty in the numbers of programs and sample populations, and temporal behavior. We developed GeneProgram, a new unsupervised computational framework based on Hierarchical Dirichlet Processes that addresses each of the above challenges. GeneProgram uses expression data to simultaneously organize tissues into groups and genes into overlapping programs with consistent temporal behavior, to produce maps of expression programs, which are sorted by generality scores that exploit the automatically learned groupings. Using synthetic and real gene expression data, we showed that GeneProgram outperformed several popular expression analysis methods. We applied GeneProgram to a compendium of 62 short time-series gene expression datasets exploring the responses of human cells to infectious agents and immune-modulating molecules. GeneProgram produced a map of 104 expression programs, a substantial number of which were significantly enriched for genes involved in key signaling pathways and/or bound by NF-κB transcription factors in genome-wide experiments. Further, GeneProgram discovered expression programs that appear to implicate surprising signaling pathways or receptor types in the response to infection, including Wnt signaling and neurotransmitter receptors. We believe the discovered map of expression programs involved in the response to infection will be useful for guiding future biological experiments; genes from programs with low generality scores might serve as new drug targets that exhibit minimal “cross-talk,” and genes from high generality programs may maintain common physiological responses that go awry in disease states. Further, our method is multipurpose, and can be applied readily to novel compendia of biological data. PMID:17696603

Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the “-Omics” Era

PubMed Central

Stamou, M. I.; Cox, K. H.

2015-01-01

The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite coordination of an assortment of cellular networks, all converging on the GnRH neurons. These neurons have a complex life history, migrating mainly from the olfactory placode into the hypothalamus, where GnRH is secreted and acts as the master regulator of the hypothalamic-pituitary-gonadal axis. Much of what we know about the biology of the GnRH neurons has been aided by discoveries made using the human disease model of isolated GnRH deficiency (IGD), a family of rare Mendelian disorders that share a common failure of secretion and/or action of GnRH causing hypogonadotropic hypogonadism. Over the last 30 years, research groups around the world have been investigating the genetic basis of IGD using different strategies based on complex cases that harbor structural abnormalities or single pleiotropic genes, endogamous pedigrees, candidate gene approaches as well as pathway gene analyses. Although such traditional approaches, based on well-validated tools, have been critical to establish the field, new strategies, such as next-generation sequencing, are now providing speed and robustness, but also revealing a surprising number of variants in known IGD genes in both patients and healthy controls. Thus, before the field moves forward with new genetic tools and continues discovery efforts, we must reassess what we know about IGD genetics and prepare to hold our work to a different standard. The purpose of this review is to: 1) look back at the strategies used to discover the “known” genes implicated in the rare forms of IGD; 2) examine the strengths and weaknesses of the methodologies used to validate genetic variation; 3) substantiate the role of known genes in the pathophysiology of the disease; and 4) project forward as we embark upon a widening use of these new and powerful technologies for gene discovery. PMID:26394276

Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.

PubMed

Stamou, M I; Cox, K H; Crowley, William F

2015-12-01

The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite coordination of an assortment of cellular networks, all converging on the GnRH neurons. These neurons have a complex life history, migrating mainly from the olfactory placode into the hypothalamus, where GnRH is secreted and acts as the master regulator of the hypothalamic-pituitary-gonadal axis. Much of what we know about the biology of the GnRH neurons has been aided by discoveries made using the human disease model of isolated GnRH deficiency (IGD), a family of rare Mendelian disorders that share a common failure of secretion and/or action of GnRH causing hypogonadotropic hypogonadism. Over the last 30 years, research groups around the world have been investigating the genetic basis of IGD using different strategies based on complex cases that harbor structural abnormalities or single pleiotropic genes, endogamous pedigrees, candidate gene approaches as well as pathway gene analyses. Although such traditional approaches, based on well-validated tools, have been critical to establish the field, new strategies, such as next-generation sequencing, are now providing speed and robustness, but also revealing a surprising number of variants in known IGD genes in both patients and healthy controls. Thus, before the field moves forward with new genetic tools and continues discovery efforts, we must reassess what we know about IGD genetics and prepare to hold our work to a different standard. The purpose of this review is to: 1) look back at the strategies used to discover the "known" genes implicated in the rare forms of IGD; 2) examine the strengths and weaknesses of the methodologies used to validate genetic variation; 3) substantiate the role of known genes in the pathophysiology of the disease; and 4) project forward as we embark upon a widening use of these new and powerful technologies for gene discovery.

Genetic variation for leaf morphology, leaf structure and leaf carbon isotope discrimination in European populations of black poplar (Populus nigra L.).

PubMed

Guet, Justine; Fabbrini, Francesco; Fichot, Régis; Sabatti, Maurizio; Bastien, Catherine; Brignolas, Franck

2015-08-01

To buffer against the high spatial and temporal heterogeneity of the riparian habitat, riparian tree species, such as black poplar (Populus nigra L.), may display a high level of genetic variation and phenotypic plasticity for functional traits. Using a multisite common garden experiment, we estimated the relative contribution of genetic and environmental effects on the phenotypic variation expressed for individual leaf area, leaf shape, leaf structure and leaf carbon isotope discrimination (Δ(13)C) in natural populations of black poplar. Twenty-four to 62 genotypes were sampled in nine metapopulations covering a latitudinal range from 48 °N to 42 °N in France and in Italy and grown in two common gardens at Orléans (ORL) and at Savigliano (SAV). In the two common gardens, substantial genetic variation was expressed for leaf traits within all metapopulations, but its expression was modulated by the environment, as attested by the genotype × environment (G × E) interaction variance being comparable to or even greater than genetic effects. For LA, G × E interactions were explained by both changes in genotype ranking between common gardens and increased variation in SAV, while these interactions were mainly attributed to changes in genotype ranking for Δ(13)C. The nine P. nigra metapopulations were highly differentiated for LA, as attested by the high coefficient of genetic differentiation (QST = 0.50 at ORL and 0.51 at SAV), and the pattern of metapopulation differentiation was highly conserved between the two common gardens. In contrast, they were moderately differentiated for Δ(13)C (QST = 0.24 at ORL and 0.25 at SAV) and the metapopulation clustering changed significantly between common gardens. Our results evidenced that the nine P. nigra metapopulations present substantial genetic variation and phenotypic plasticity for leaf traits, which both represent potentially significant determinants of populations' capacities to respond, on a short-term basis and over generations, to environmental variations. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Discovery and characterization of antibody variants using mass spectrometry-based comparative analysis for biosimilar candidates of monoclonal antibody drugs.

PubMed

Li, Wenhua; Yang, Bin; Zhou, Dongmei; Xu, Jun; Ke, Zhi; Suen, Wen-Chen

2016-07-01

Liquid chromatography mass spectrometry (LC-MS) is the most commonly used technique for the characterization of antibody variants. MAb-X and mAb-Y are two approved IgG1 subtype monoclonal antibody drugs recombinantly produced in Chinese hamster ovary (CHO) cells. We report here that two unexpected and rare antibody variants have been discovered during cell culture process development of biosimilars for these two approved drugs through intact mass analysis. We then used comprehensive mass spectrometry-based comparative analysis including reduced light, heavy chains, and domain-specific mass as well as peptide mapping analysis to fully characterize the observed antibody variants. The "middle-up" mass comparative analysis demonstrated that the antibody variant from mAb-X biosimilar candidate was caused by mass variation of antibody crystalline fragment (Fc), whereas a different variant with mass variation in antibody antigen-binding fragment (Fab) from mAb-Y biosimilar candidate was identified. Endoproteinase Lys-C digested peptide mapping and tandem mass spectrometry analysis further revealed that a leucine to glutamine change in N-terminal 402 site of heavy chain was responsible for the generation of mAb-X antibody variant. Lys-C and trypsin coupled non-reduced and reduced peptide mapping comparative analysis showed that the formation of the light-heavy interchain trisulfide bond resulted in the mAb-Y antibody variant. These two cases confirmed that mass spectrometry-based comparative analysis plays a critical role for the characterization of monoclonal antibody variants, and biosimilar developers should start with a comprehensive structural assessment and comparative analysis to decrease the risk of the process development for biosimilars. Copyright © 2016 Elsevier B.V. All rights reserved.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

PubMed

Bruno, D L; Ganesamoorthy, D; Schoumans, J; Bankier, A; Coman, D; Delatycki, M; Gardner, R J M; Hunter, M; James, P A; Kannu, P; McGillivray, G; Pachter, N; Peters, H; Rieubland, C; Savarirayan, R; Scheffer, I E; Sheffield, L; Tan, T; White, S M; Yeung, A; Bowman, Z; Ngo, C; Choy, K W; Cacheux, V; Wong, L; Amor, D J; Slater, H R

2009-02-01

Microarray genome analysis is realising its promise for improving detection of genetic abnormalities in individuals with mental retardation and congenital abnormality. Copy number variations (CNVs) are now readily detectable using a variety of platforms and a major challenge is the distinction of pathogenic from ubiquitous, benign polymorphic CNVs. The aim of this study was to investigate replacement of time consuming, locus specific testing for specific microdeletion and microduplication syndromes with microarray analysis, which theoretically should detect all known syndromes with CNV aetiologies as well as new ones. Genome wide copy number analysis was performed on 117 patients using Affymetrix 250K microarrays. 434 CNVs (195 losses and 239 gains) were found, including 18 pathogenic CNVs and 9 identified as "potentially pathogenic". Almost all pathogenic CNVs were larger than 500 kb, significantly larger than the median size of all CNVs detected. Segmental regions of loss of heterozygosity larger than 5 Mb were found in 5 patients. Genome microarray analysis has improved diagnostic success in this group of patients. Several examples of recently discovered "new syndromes" were found suggesting they are more common than previously suspected and collectively are likely to be a major cause of mental retardation. The findings have several implications for clinical practice. The study revealed the potential to make genetic diagnoses that were not evident in the clinical presentation, with implications for pretest counselling and the consent process. The importance of contributing novel CNVs to high quality databases for genotype-phenotype analysis and review of guidelines for selection of individuals for microarray analysis is emphasised.

Estimation of daily energy expenditure in pregnant and non-pregnant women using a wrist-worn tri-axial accelerometer.

PubMed

van Hees, Vincent T; Renström, Frida; Wright, Antony; Gradmark, Anna; Catt, Michael; Chen, Kong Y; Löf, Marie; Bluck, Les; Pomeroy, Jeremy; Wareham, Nicholas J; Ekelund, Ulf; Brage, Søren; Franks, Paul W

2011-01-01

Few studies have compared the validity of objective measures of physical activity energy expenditure (PAEE) in pregnant and non-pregnant women. PAEE is commonly estimated with accelerometers attached to the hip or waist, but little is known about the validity and participant acceptability of wrist attachment. The objectives of the current study were to assess the validity of a simple summary measure derived from a wrist-worn accelerometer (GENEA, Unilever Discover, UK) to estimate PAEE in pregnant and non-pregnant women, and to evaluate participant acceptability. Non-pregnant (N = 73) and pregnant (N = 35) Swedish women (aged 20-35 yrs) wore the accelerometer on their wrist for 10 days during which total energy expenditure (TEE) was assessed using doubly-labelled water. PAEE was calculated as 0.9×TEE-REE. British participants (N = 99; aged 22-65 yrs) wore accelerometers on their non-dominant wrist and hip for seven days and were asked to score the acceptability of monitor placement (scored 1 [least] through 10 [most] acceptable). There was no significant correlation between body weight and PAEE. In non-pregnant women, acceleration explained 24% of the variation in PAEE, which decreased to 19% in leave-one-out cross-validation. In pregnant women, acceleration explained 11% of the variation in PAEE, which was not significant in leave-one-out cross-validation. Median (IQR) acceptability of wrist and hip placement was 9(8-10) and 9(7-10), respectively; there was a within-individual difference of 0.47 (p<.001). A simple summary measure derived from a wrist-worn tri-axial accelerometer adds significantly to the prediction of energy expenditure in non-pregnant women and is scored acceptable by participants.

Multi-species comparative analysis of the equine ACE gene identifies a highly conserved potential transcription factor binding site in intron 16.

PubMed

Hamilton, Natasha A; Tammen, Imke; Raadsma, Herman W

2013-01-01

Angiotensin converting enzyme (ACE) is essential for control of blood pressure. The human ACE gene contains an intronic Alu indel (I/D) polymorphism that has been associated with variation in serum enzyme levels, although the functional mechanism has not been identified. The polymorphism has also been associated with cardiovascular disease, type II diabetes, renal disease and elite athleticism. We have characterized the ACE gene in horses of breeds selected for differing physical abilities. The equine gene has a similar structure to that of all known mammalian ACE genes. Nine common single nucleotide polymorphisms (SNPs) discovered in pooled DNA were found to be inherited in nine haplotypes. Three of these SNPs were located in intron 16, homologous to that containing the Alu polymorphism in the human. A highly conserved 18 bp sequence, also within that intron, was identified as being a potential binding site for the transcription factors Oct-1, HFH-1 and HNF-3β, and lies within a larger area of higher than normal homology. This putative regulatory element may contribute to regulation of the documented inter-individual variation in human circulating enzyme levels, for which a functional mechanism is yet to be defined. Two equine SNPs occurred within the conserved area in intron 16, although neither of them disrupted the putative binding site. We propose a possible regulatory mechanism of the ACE gene in mammalian species which was previously unknown. This advance will allow further analysis leading to a better understanding of the mechanisms underpinning the associations seen between the human Alu polymorphism and enzyme levels, cardiovascular disease states and elite athleticism.

Multi-Species Comparative Analysis of the Equine ACE Gene Identifies a Highly Conserved Potential Transcription Factor Binding Site in Intron 16

PubMed Central

Hamilton, Natasha A.; Tammen, Imke; Raadsma, Herman W.

2013-01-01

Angiotensin converting enzyme (ACE) is essential for control of blood pressure. The human ACE gene contains an intronic Alu indel (I/D) polymorphism that has been associated with variation in serum enzyme levels, although the functional mechanism has not been identified. The polymorphism has also been associated with cardiovascular disease, type II diabetes, renal disease and elite athleticism. We have characterized the ACE gene in horses of breeds selected for differing physical abilities. The equine gene has a similar structure to that of all known mammalian ACE genes. Nine common single nucleotide polymorphisms (SNPs) discovered in pooled DNA were found to be inherited in nine haplotypes. Three of these SNPs were located in intron 16, homologous to that containing the Alu polymorphism in the human. A highly conserved 18 bp sequence, also within that intron, was identified as being a potential binding site for the transcription factors Oct-1, HFH-1 and HNF-3β, and lies within a larger area of higher than normal homology. This putative regulatory element may contribute to regulation of the documented inter-individual variation in human circulating enzyme levels, for which a functional mechanism is yet to be defined. Two equine SNPs occurred within the conserved area in intron 16, although neither of them disrupted the putative binding site. We propose a possible regulatory mechanism of the ACE gene in mammalian species which was previously unknown. This advance will allow further analysis leading to a better understanding of the mechanisms underpinning the associations seen between the human Alu polymorphism and enzyme levels, cardiovascular disease states and elite athleticism. PMID:23408978

Endocrine diseases in dogs and cats: similarities and differences with endocrine diseases in humans.

PubMed

Rijnberk, Ad; Kooistra, Hans S; Mol, Jan A

2003-08-01

Over several millennia, humans have created hundreds of dog and cat breeds by selective breeding, including fixation of mutant genes. The domestic dog is unique in the extent of its variation in height, weight and shape as well as its behavior. It is primarily the relatively long persistence of high levels of growth hormone (GH) release at a young age that accounts for the large body size in giant breeds of dogs. Several of the endocrine diseases of humans are also known to occur as similar entities in dogs and cats. With some variations, this is true for conditions such as diabetes mellitus and the hypofunction syndromes of the thyroid and adrenal cortex. Also, the hyperfunction syndromes of hypercortisolism and hyperparathyroidism in dogs and cats have many similarities with their human counterparts. The exception seems to be Graves' disease. This condition, which is due to production of thyroid-stimulating hormone (TSH)-receptor antibodies, has not been observed in dogs and cats. The very common form of hyperthyroidism in cats is due to toxic adenomas. In the 1980s it was discovered that in dogs exogenous progestins and endogenous progesterone can induce GH excess. This GH excess originates form the mammary gland and may give rise to acromegaly and insulin resistance. GH production by the mammary gland is not unique to the dog. It has become clear that cats and humans also express the GH gene in the mammary gland. There is increasing evidence that this locally produced GH not only plays a role in the morphologic changes of the mammary gland associated with the ovarian cycle and gestation, but that it is also involved in the development of breast cancer. In dogs, induction of mammary GH production by progestin administration allows for treatment of GH deficiency.

Natural variation for a hybrid incompatibility between two species of Mimulus.

PubMed

Sweigart, Andrea L; Mason, Amanda R; Willis, John H

2007-01-01

Understanding the process by which hybrid incompatibility alleles become established in natural populations remains a major challenge to evolutionary biology. Previously, we discovered a two-locus Dobzhansky-Muller incompatibility that causes severe hybrid male sterility between two inbred lines of the incompletely isolated wildflower species, Mimulus guttatus and M. nasutus. An interspecific cross between these two inbred lines revealed that the M. guttatus (IM62) allele at hybrid male sterility 1 (hms1) acts dominantly in combination with recessive M. nasutus (SF5) alleles at hybrid male sterility 2 (hms2) to cause nearly complete hybrid male sterility. In this report, we extend these genetic analyses to investigate intraspecific variation for the hms1-hms2 incompatibility in natural populations of M. nasutus and M. guttatus, performing a series of interspecific crosses between individuals collected from a variety of geographic locales. Our results suggest that hms2 incompatibility alleles are common and geographically widespread within M. nasutus, but absent or rare in M. guttatus. In contrast, the hms1 locus is polymorphic within M. guttatus and the incompatibility allele appears to be extremely geographically restricted. We found evidence for the presence of the hms1 incompatibility allele in only two M. guttatus populations that exist within a few kilometers of each other. The restricted distribution of the hms1 incompatibility allele might currently limit the potential for the hms1-hms2 incompatibility to act as a species barrier between sympatric populations of M. guttatus and M. nasutus. Extensive sampling within a single M. guttatus population revealed that the hms1 locus is polymorphic and that the incompatibility allele appears to segregate at intermediate frequency, a pattern that is consistent with either genetic drift or natural selection.

Genomic determinants of epidermal appendage patterning and structure in domestic birds

PubMed Central

Boer, Elena F.; Van Hollebeke, Hannah F.; Shapiro, Michael D.

2017-01-01

Variation in regional identity, patterning, and structure of epidermal appendages contributes to skin diversity among many vertebrate groups, and is perhaps most striking in birds. In pioneering work on epidermal appendage patterning, John Saunders and his contemporaries took advantage of epidermal appendage diversity within and among domestic chicken breeds to establish the importance of mesoderm-ectoderm signaling in determining skin patterning. Diversity in chickens and other domestic birds, including pigeons, is driving a new wave of research to dissect the molecular genetic basis of epidermal appendage patterning. Domestic birds are not only outstanding models for embryonic manipulations, as Saunders recognized, but they are also ideal genetic models for discovering the specific genes that control normal development and the mutations that contribute to skin diversity. Here, we review recent genetic and genomic approaches to uncover the basis of epidermal macropatterning, micropatterning, and structural variation. We also present new results that confirm expression changes in two limb identity genes in feather-footed pigeons, a case of variation in appendage structure and identity. PMID:28347644

Is there a stratospheric pacemaker controlling the daily cycle of tropical rainfall?

NASA Astrophysics Data System (ADS)

Sakazaki, T.; Hamilton, K.; Zhang, C.; Wang, Y.

2017-02-01

Rainfall in the tropics exhibits a large, 12 h Sun-synchronous variation with coherent phase around the globe. A long-standing, but unproved, hypothesis for this phenomenon is excitation by the prominent 12 h atmospheric tide, which itself is significantly forced remotely by solar heating of the stratospheric ozone layer. We investigated the relative roles of large-scale tidal forcing and more local effects in accounting for the 12 h variation of tropical rainfall. A model of the atmosphere run with the diurnal cycle of solar heating artificially suppressed below the stratosphere still simulated a strong coherent 12 h rainfall variation ( 50% of control run), demonstrating that stratospherically forced atmospheric tide propagates downward to the troposphere and contributes to the organization of large-scale convection. The results have implications for theories of excitation of tropical atmospheric waves by moist convection, for the evaluation of climate models, and for explaining the recently discovered lunar tidal rainfall cycle.

Toroidal current asymmetry in tokamak disruptions

NASA Astrophysics Data System (ADS)

Strauss, H. R.

2014-10-01

It was discovered on JET that disruptions were accompanied by toroidal asymmetry of the toroidal plasma current I ϕ. It was found that the toroidal current asymmetry was proportional to the vertical current moment asymmetry with positive sign for an upward vertical displacement event (VDE) and negative sign for a downward VDE. It was observed that greater displacement leads to greater measured I ϕ asymmetry. Here, it is shown that this is essentially a kinematic effect produced by a VDE interacting with three dimensional MHD perturbations. The relation of toroidal current asymmetry and vertical current moment is calculated analytically and is verified by numerical simulations. It is shown analytically that the toroidal variation of the toroidal plasma current is accompanied by an equal and opposite variation of the toroidal current flowing in a thin wall surrounding the plasma. These currents are connected by 3D halo current, which is π/2 radians out of phase with the n = 1 toroidal current variations.

The relaxed-polar mechanism of locally optimal Cosserat rotations for an idealized nanoindentation and comparison with 3D-EBSD experiments

NASA Astrophysics Data System (ADS)

Fischle, Andreas; Neff, Patrizio; Raabe, Dierk

2017-08-01

The rotation {{polar}}(F) \\in {{SO}}(3) arises as the unique orthogonal factor of the right polar decomposition F = {{polar}}(F) U of a given invertible matrix F \\in {{GL}}^+(3). In the context of nonlinear elasticity Grioli (Boll Un Math Ital 2:252-255, 1940) discovered a geometric variational characterization of {{polar}}(F) as a unique energy-minimizing rotation. In preceding works, we have analyzed a generalization of Grioli's variational approach with weights (material parameters) μ > 0 and μ _c ≥ 0 (Grioli: μ = μ _c). The energy subject to minimization coincides with the Cosserat shear-stretch contribution arising in any geometrically nonlinear, isotropic and quadratic Cosserat continuum model formulated in the deformation gradient field F :=\

Huangshan population of Chinese Zacco platypus (Teleostei, Cyprinidae) harbors diverse matrilines and high genetic diversity.

PubMed

Zheng, Xin; Zhou, Tian-Qi; Wan, Tao; Perdices, Anabel; Yang, Jin-Quan; Tang, Xin-Sheng; Wang, Zheng-Ping; Huang, Li-Qun; Huang, Song; He, Shun-Ping

2016-03-18

Six main mitochondrial DNA (mtDNA) lineages have been described in minnow (Zacco platypus) samples obtained from northern, western and southern China. Perdices et al. (2004) predicted that further sampling of other tributaries might discover more lineages of this species. In this study, we collected 26 Zacco platypus individuals in the Huangshan area of eastern China and determined the cytochrome b (cytb) sequence variations. Combined with reported data in GenBank, we identified ten matrilines (Zacco A-J) in a total of 169 samples, with relatively high molecular divergence found among them. The Huangshan population had the greatest genetic variation among all sampled regions and hosted six of the ten matrilines. Our results highlight the significance of the Huangshan area for the conservation of Zacco platypus.

Gene-expression signatures of Atlantic salmon's plastic life cycle

USGS Publications Warehouse

Aubin-Horth, N.; Letcher, B.H.; Hofmann, H.A.

2009-01-01

How genomic expression differs as a function of life history variation is largely unknown. Atlantic salmon exhibits extreme alternative life histories. We defined the gene-expression signatures of wild-caught salmon at two different life stages by comparing the brain expression profiles of mature sneaker males and immature males, and early migrants and late migrants. In addition to life-stage-specific signatures, we discovered a surprisingly large gene set that was differentially regulated-at similar magnitudes, yet in opposite direction-in both life history transitions. We suggest that this co-variation is not a consequence of many independent cellular and molecular switches in the same direction but rather represents the molecular equivalent of a physiological shift orchestrated by one or very few master regulators. ?? 2009 Elsevier Inc. All rights reserved.

Gene-expression signatures of Atlantic salmon’s plastic life cycle

PubMed Central

Aubin-Horth, Nadia; Letcher, Benjamin H.; Hofmann, Hans A.

2009-01-01

How genomic expression differs as a function of life history variation is largely unknown. Atlantic salmon exhibits extreme alternative life histories. We defined the gene-expression signatures of wild-caught salmon at two different life stages by comparing the brain expression profiles of mature sneaker males and immature males, and early migrants and late migrants. In addition to life-stage-specific signatures, we discovered a surprisingly large gene set that was differentially regulated - at similar magnitudes, yet in opposite direction - in both life history transitions. We suggest that this co-variation is not a consequence of many independent cellular and molecular switches in the same direction but rather represents the molecular equivalent of a physiological shift orchestrated by one or very few master regulators. PMID:19401203

Observational and numerical studies of the low-level jet stream in the atmosphere

NASA Technical Reports Server (NTRS)

Djuric, D.

1986-01-01

Two cases of low-level jet (LLJ) support the hypothesis that the LLJ is an integral part of synoptic-scale cyclogenesis. The appearance of an arch with a row of cumulonimbus is discovered at the front of the LLJ. The inertia oscillations in the LLJ are pointed out as part of the quasi-diurnal variation. A plan for further research by numerical modelling is proposed, which will bring more clarification of the mechanics of the LLJ.

When water does not boil at the boiling point.

PubMed

Chang, Hasok

2007-03-01

Every schoolchild learns that, under standard pressure, pure water always boils at 100 degrees C. Except that it does not. By the late 18th century, pioneering scientists had already discovered great variations in the boiling temperature of water under fixed pressure. So, why have most of us been taught that the boiling point of water is constant? And, if it is not constant, how can it be used as a 'fixed point' for the calibration of thermometers? History of science has the answers.

Diamagnetic Solar-Wind Cavity Discovered behind Moon.

PubMed

Colburn, D S; Currie, R G; Mihalov, J D; Sonett, C P

1967-11-24

Preliminary Ames-magnetometer data from Explorer 35, the lunar orbiter, show no evidence of a lunar bow shock. However, an increase of the magnetic field by about 1.5 gamma (over the interplanetary value) is evident on Moon's dark side, as well as dips in field strength at the limbs. Interpretation of these spatial variations in the field as deriving from plasma diamagnetism is consistent with a plasma void on the dark side, and steady-state (B = 0) magnetic transparency of Moon.

An Accessory Muscle of Pectoral Region: A Case Report

PubMed Central

Bannur, B.M.; Mallashetty, Nagaraj; Endigeri, Preetish

2013-01-01

Among the variations of pectoral muscles, this case appears to be unique in the literature. This was a case of an accessory pectoral muscle which was located between pectoralis major and pectoralis minor muscles, which was discovered during a routine anatomy dissection. The accessory muscle originated from 6th and 7th ribs at costo-chondral junction, which travelled supero-laterally and inserted by fusing with fibres of pectoralis minor. This unusual muscle holds importance for surgeons while they perform dissectomies, in avoiding complications. PMID:24179919

Theory building, replication, and behavioral priming: where do we need to go from here?

PubMed

Locke, Edwin A

2015-05-01

This article suggests that the field of behavioral priming, which is basically a technique, is in need of theory building. Guidelines from successful theory building by induction in the realm of conscious motivation (namely, goal setting and self-efficacy) are suggested. The process would include replication with variation, identifying the logical relation between a given prime and the action in question, discovering moderators and mediators, and clarifying the relationship between the conscious mind and the subconscious. © The Author(s) 2015.

Study of Track Irregularity Time Series Calibration and Variation Pattern at Unit Section

PubMed Central

Jia, Chaolong; Wei, Lili; Wang, Hanning; Yang, Jiulin

2014-01-01

Focusing on problems existing in track irregularity time series data quality, this paper first presents abnormal data identification, data offset correction algorithm, local outlier data identification, and noise cancellation algorithms. And then proposes track irregularity time series decomposition and reconstruction through the wavelet decomposition and reconstruction approach. Finally, the patterns and features of track irregularity standard deviation data sequence in unit sections are studied, and the changing trend of track irregularity time series is discovered and described. PMID:25435869

Spectral types of four binaries based on photometric observations

NASA Astrophysics Data System (ADS)

Shimanskii, V. V.; Bikmaev, I. F.; Borisov, N. V.; Vlasyuk, V. V.; Galeev, A. I.; Sakhibullin, N. A.; Spiridonova, O. I.

2008-09-01

We present results of photometric and spectroscopic observations of four close binaries with subdwarf B components: PG 0918+029, PG 1000+408, PG 1116+301, PG 0001+275. We discovered that PG 1000+408 is a close binary, with the most probable orbital period being P orb = 1.041145 day. Based on a comparison of the observed light curves at selected orbital phases and theoretical predictions for their variations, all the systems are classified as doubly degenerate binaries with low-luminosity white-dwarf secondaries.

KIC2569073, A second Cepheid in the Kepler FOV

NASA Astrophysics Data System (ADS)

Drury, Jason A.; Kuehn, Charles A.; Bellamy, Beau R.; Stello, Dennis; Bedding, Timothy R.

2015-09-01

One particularly interesting new variable discovered via Kepler's 200x200 pixel superstamp images is KIC2569073. With a period of 14.66 days and 0.04mag variability it is only the second Cepheid in the Kepler field, or a rotationally modulated variable. We discuss its classification as a Type II W Virginis Class Cepheid, and present the cycle-to-cycle period variations of this star, as well as the first direct observations of granulation noise within a Cepheid.

Classification and assessment tools for structural motif discovery algorithms.

PubMed

Badr, Ghada; Al-Turaiki, Isra; Mathkour, Hassan

2013-01-01

Motif discovery is the problem of finding recurring patterns in biological data. Patterns can be sequential, mainly when discovered in DNA sequences. They can also be structural (e.g. when discovering RNA motifs). Finding common structural patterns helps to gain a better understanding of the mechanism of action (e.g. post-transcriptional regulation). Unlike DNA motifs, which are sequentially conserved, RNA motifs exhibit conservation in structure, which may be common even if the sequences are different. Over the past few years, hundreds of algorithms have been developed to solve the sequential motif discovery problem, while less work has been done for the structural case. In this paper, we survey, classify, and compare different algorithms that solve the structural motif discovery problem, where the underlying sequences may be different. We highlight their strengths and weaknesses. We start by proposing a benchmark dataset and a measurement tool that can be used to evaluate different motif discovery approaches. Then, we proceed by proposing our experimental setup. Finally, results are obtained using the proposed benchmark to compare available tools. To the best of our knowledge, this is the first attempt to compare tools solely designed for structural motif discovery. Results show that the accuracy of discovered motifs is relatively low. The results also suggest a complementary behavior among tools where some tools perform well on simple structures, while other tools are better for complex structures. We have classified and evaluated the performance of available structural motif discovery tools. In addition, we have proposed a benchmark dataset with tools that can be used to evaluate newly developed tools.

Quality of service management framework for dynamic chaining of geographic information services

NASA Astrophysics Data System (ADS)

Onchaga, Richard

2006-06-01

Dynamic chaining of geographic information services (geo-services) is gaining popularity as a new paradigm for evolving flexible geo-information systems and for providing on-demand access to geo-information. In dynamic chaining, disparate geo-services are discovered and composed at run time to yield more elaborate functionality and create value-added geo-information. Common approaches to service chaining discover and compose disparate geo-services based on the functional capability of individual geo-services. The primary concern of common approaches is thus the emergent behavior of the resulting composite geo-service. However, as geo-services become mundane and take on a greater and more strategic role in mission critical processes, deliverable quality of service (QoS) becomes an important concern. QoS concerns operational characteristics of a service that determine its utility in an application context. To address pertinent QoS requirements, a new approach to service chaining becomes necessary. In this paper we propose a QoS-aware chaining approach in which geo-services are discovered, composed and executed considering both functional and QoS requirements. We prescribe a QoS management framework that defines fundamental principles, concepts and mechanisms which can be applied to evolve an effective distributed computing platform for QoS-aware chaining of geo-services - the so-called geo-service infrastructure. The paper also defines an extensible QoS model for services delivered by dynamic compositions of geo-services. The process of orthophoto generation is used to demonstrate the applicability of the prescribed framework to service-oriented geographic information processing.

Context-aware pattern discovery for moving object trajectories

NASA Astrophysics Data System (ADS)

Sharif, Mohammad; Asghar Alesheikh, Ali; Kaffash Charandabi, Neda

2018-05-01

Movement of point objects are highly sensitive to the underlying situations and conditions during the movement, which are known as contexts. Analyzing movement patterns, while accounting the contextual information, helps to better understand how point objects behave in various contexts and how contexts affect their trajectories. One potential solution for discovering moving objects patterns is analyzing the similarities of their trajectories. This article, therefore, contextualizes the similarity measure of trajectories by not only their spatial footprints but also a notion of internal and external contexts. The dynamic time warping (DTW) method is employed to assess the multi-dimensional similarities of trajectories. Then, the results of similarity searches are utilized in discovering the relative movement patterns of the moving point objects. Several experiments are conducted on real datasets that were obtained from commercial airplanes and the weather information during the flights. The results yielded the robustness of DTW method in quantifying the commonalities of trajectories and discovering movement patterns with 80 % accuracy. Moreover, the results revealed the importance of exploiting contextual information because it can enhance and restrict movements.

Multi-Dimensional Pattern Discovery of Trajectories Using Contextual Information

NASA Astrophysics Data System (ADS)

Sharif, M.; Alesheikh, A. A.

2017-10-01

Movement of point objects are highly sensitive to the underlying situations and conditions during the movement, which are known as contexts. Analyzing movement patterns, while accounting the contextual information, helps to better understand how point objects behave in various contexts and how contexts affect their trajectories. One potential solution for discovering moving objects patterns is analyzing the similarities of their trajectories. This article, therefore, contextualizes the similarity measure of trajectories by not only their spatial footprints but also a notion of internal and external contexts. The dynamic time warping (DTW) method is employed to assess the multi-dimensional similarities of trajectories. Then, the results of similarity searches are utilized in discovering the relative movement patterns of the moving point objects. Several experiments are conducted on real datasets that were obtained from commercial airplanes and the weather information during the flights. The results yielded the robustness of DTW method in quantifying the commonalities of trajectories and discovering movement patterns with 80 % accuracy. Moreover, the results revealed the importance of exploiting contextual information because it can enhance and restrict movements.

Odysseas Elytis: The Arithmetician and Geometrician Poet

ERIC Educational Resources Information Center

Terdimou, Maria

2014-01-01

The prevailing view is that Mathematics and Poetry have nothing in common. However, if we look below the surface and dig a little deeper into two of the most important human activities throughout recorded history, surely we will discover kindred elements and similarities unseen at first glance. The poetry of Odysseas Elytis will help us to bring…

Technology-Related Strategies Used by Educational Leaders to Increase Prosocial Behavior in K-12 Schools

ERIC Educational Resources Information Center

Beers, Jason Ronald

2017-01-01

Purpose. The purpose of this study was to identify technology-related strategies used by educational leaders to increase prosocial behavior in K-12 schools. Information and communication technology (ICT) is developing at a rapid rate and is becoming more ubiquitous among students. Discovering and understanding common technology-related strategies…

Orthotomicus erosus: A new pine-infesting bark beetle in the United States

Treesearch

Robert A. Haack

2004-01-01

Established populations of yet another new exotic beetle (Scolytidae) were discovered in the United States in 2004: Othotomicus erosus. This Eurasian bark beetle, commonly called the Mediterranean pine engraver, is native to the pine (Pinus)growing areas of Europe, northern Africa, and Asia. It has also been introduced to Chile, Fiji, South Africa, and Swaziland....

No More Heroes Any More: The "Older Brother" as Role Model

ERIC Educational Resources Information Center

Walker, Barbara M.

2007-01-01

This paper focuses on a commonly-reported horizontal division between what boys feel to be the circumstances surrounding the lives of older generations and those surrounding their own. This aspect of individualization is explored, seeking to discover the discourses today's boys look to for routes to travel in their search for an independent, adult…

Marriage and Family Therapy and the Law: Discovering Systemic Common Ground

ERIC Educational Resources Information Center

Richards, Jason C.

2017-01-01

Many important decisions regarding couples and families are made by the legal system. However, this system's adversarial nature often results in relational losses for clients, even when one "wins" a case. Some believe a solution may exist in legally-minded marriage and family therapists, who, as experts in family systems theory, are in a…

Distribution of Disease-Associated Copy Number Variants across Distinct Disorders of Cognitive Development

ERIC Educational Resources Information Center

Pescosolido, Matthew F.; Gamsiz, Ece D.; Nagpal, Shailender; Morrow, Eric M.

2013-01-01

Objective: The purpose of the present study was to discover the extent to which distinct "DSM" disorders share large, highly recurrent copy number variants (CNVs) as susceptibility factors. We also sought to identify gene mechanisms common to groups of diagnoses and/or specific to a given diagnosis based on associations with CNVs. Method:…

All about Waves. Physical Science for Children[TM]. Schlessinger Science Library. [Videotape].

ERIC Educational Resources Information Center

2000

Sound. Light. Heat. Even earthquakes! They all travel in waves. Waves are a transfer of energy and understanding them allows us to better understand the world around us. Discover the two ways in which waves move, and learn about the characteristics of waves; wavelength, amplitude and frequency. Students learn about the common characteristics of…

Coming Home: The Utilization of the "Wilderness Experience" in Counseling.

ERIC Educational Resources Information Center

Rigney, John R.; Bryant, Angelia S.

This article examines the unique spiritual journey of the counselor in relation to her attempts to aid clients through their wildernesses. Both the therapist and the client journey to a common end. However, it is the manner in which the counselor travels that allows her to discover her own destiny while assisting clients to realize their unique…

There's Gold in Those Contracts

ERIC Educational Resources Information Center

Diaz, Russell

2009-01-01

In 2006, when the author joined the staff at Dominican College (New York), he discovered that the network, computers, and IT contracts were in sorry shape. He also found that this kind of condition is common in small colleges. Such a state of affairs is usually brought about by the unrelenting demands placed on small IT staffs. IT staffers at…

Mining Data from Interactions with a Motivational-Aware Tutoring System Using Data Visualization

ERIC Educational Resources Information Center

Rebolledo-Mendez, Genaro; Du Boulay, Benedict; Luckin, Rosemary; Benitez-Guerrero, Edgard Ivan

2013-01-01

Tutoring systems are a common tool for delivering educational content and recent advances in this field include the detection of and reaction to learners' motivation. A data set derived from interactions in a tutoring system and its motivationally-aware variant provided opportunities to discover patterns of behavior in connection with motivational…

Discovering Green, Aqueous Suzuki Coupling Reactions: Synthesis of Ethyl (4-Phenylphenyl)Acetate, a Biaryl with Anti-Arthritic Potential

ERIC Educational Resources Information Center

Costa, Nancy E.; Pelotte, Andrea L.; Simard, Joseph M.; Syvinski, Christopher A.; Deveau, Amy M.

2012-01-01

Suzuki couplings are powerful chemical reactions commonly employed in academic and industrial research settings to generate functionalized biaryls. We have developed and implemented a discovery-based, microscale experiment for the undergraduate organic chemistry laboratory that explores green Suzuki coupling using water as the primary solvent.…

Transfer and Articulation Issues between California Community Colleges and California State University

ERIC Educational Resources Information Center

Tucker, Linda

2013-01-01

Purpose: The primary purpose of this study was to discover common transfer and articulation practices and to determine what practices aid in the implementation of the STAR Act between California Community Colleges and the California State University. The review of literature revealed a lack of research on the application of practices in transfer…

INTERDISCIPLINARY PHYSICS AND RELATED AREAS OF SCIENCE AND TECHNOLOGY: Realization of Fine Tip Tilting by 16-Step Line Tilting

NASA Astrophysics Data System (ADS)

Ding, Lu; Chen, Ying-Tian; Hu, Sen; Zhang, Yang

2010-07-01

Following Chen's method [Common. Theor. Phys. 52 (2009) 549] to use 8-step line tilting to realize tip tilting, to achieve finer rotation, it is discovered that a 16-step line tilting method may realize a rotation two order smaller than that achieved by 8-step.

Reforming Remediation: College Students Mainstreamed into Statistics Are More Likely to Succeed

ERIC Educational Resources Information Center

Logue, Alexandra W.; Douglas, Daniel; Watanabe-Rose, Mari

2017-01-01

Across the United States, more than half of entering freshmen discover they are ineligible for college-level coursework each year, most commonly in math. The readiness gap is widest when considering students at nonselective two-year colleges, and students who are black, Hispanic, or from low-income families. It often spells disaster for students…

Sterol composition and biosynthetic genes of the recently discovered photosynthetic alveolate, Chromera velia (chromerida), a close relative of apicomplexans.

PubMed

Leblond, Jeffrey D; Dodson, Joshua; Khadka, Manoj; Holder, Sabrina; Seipelt, Rebecca L

2012-01-01

Chromera velia is a recently discovered, photosynthetic, marine alveolate closely related to apicomplexan parasites, and more distantly to perkinsids and dinoflagellates. To date, there are no published studies on the sterols of C. velia. Because apicomplexans and perkinsids are not known to synthesize sterols de novo, but rather obtain them from their host organisms, our objective was to examine the composition of the sterols of C. velia to assess whether or not there is any commonality with dinoflagellates as the closest taxonomic group capable of synthesizing sterols de novo. Furthermore, knowledge of the sterols of C. velia may provide insight into the sterol biosynthetic capabilities of apicomplexans prior to loss of sterol biosynthesis. We have found that C. velia possesses two primary sterols, 24-ethylcholesta-5,22E-dien-3β-ol, and 24-ethylcholest-5-en-3β-ol, not common to dinoflagellates, but rather commonly found in other classes of algae and plants. In addition, we have identified computationally three genes, SMT1 (sterol-24C-methyltransferase), FDFT1 (farnesyl diphosphate farnesyl transferase, squalene synthase), and IDI1 (isopentenyl diphosphate Δ-isomerase), predicted to be involved in sterol biosynthesis by their similarity to analogous genes in other sterol-producing eukaryotes, including a number of algae. © 2012 The Author(s) Journal of Eukaryotic Microbiology © 2012 International Society of Protistologists.

Hsp90 and environmental stress transform the adaptive value of natural genetic variation.

PubMed

Jarosz, Daniel F; Lindquist, Susan

2010-12-24

How can species remain unaltered for long periods yet also undergo rapid diversification? By linking genetic variation to phenotypic variation via environmental stress, the Hsp90 protein-folding reservoir might promote both stasis and change. However, the nature and adaptive value of Hsp90-contingent traits remain uncertain. In ecologically and genetically diverse yeasts, we find such traits to be both common and frequently adaptive. Most are based on preexisting variation, with causative polymorphisms occurring in coding and regulatory sequences alike. A common temperature stress alters phenotypes similarly. Both selective inhibition of Hsp90 and temperature stress increase correlations between genotype and phenotype. This system broadly determines the adaptive value of standing genetic variation and, in so doing, has influenced the evolution of current genomes.

Maxillary and Mandibular First Premolars Showing Three-Cusp Pattern: An Unusual Presentation

PubMed Central

Kotrashetti, Vijayalakshmi; Nayak, Aarati; Patil, Viraj; Kulkarni, Mayuri; Somannavar, Pradeep

2013-01-01

Dental anatomy is the study of morphology of various teeth in human dentitions. The application of dental anatomy in clinical practice is important, and dentist should have a thorough knowledge regarding the morphology of the teeth. At times as a result of genetic variation, environmental factors, diet of an individual and race, variations in the morphology of the teeth can be observed. These variations have been extensively studied by the researcher in the field of anthropology to define a particular race. The most commonly observed changes include peg-shaped laterals, shovel-shaped incisors, and extra cusp on molar. Common variations documented with regard to maxillary and mandibular first premolars are the variation in the number of roots. But the variations with respect to crown morphology are few. We report a first documented unusual presentation of maxillary and mandibular first premolars with three-cusps pattern in a female patient. PMID:23476817

Genome-wide detection and characterization of positive selection in human populations.

PubMed

Sabeti, Pardis C; Varilly, Patrick; Fry, Ben; Lohmueller, Jason; Hostetter, Elizabeth; Cotsapas, Chris; Xie, Xiaohui; Byrne, Elizabeth H; McCarroll, Steven A; Gaudet, Rachelle; Schaffner, Stephen F; Lander, Eric S; Frazer, Kelly A; Ballinger, Dennis G; Cox, David R; Hinds, David A; Stuve, Laura L; Gibbs, Richard A; Belmont, John W; Boudreau, Andrew; Hardenbol, Paul; Leal, Suzanne M; Pasternak, Shiran; Wheeler, David A; Willis, Thomas D; Yu, Fuli; Yang, Huanming; Zeng, Changqing; Gao, Yang; Hu, Haoran; Hu, Weitao; Li, Chaohua; Lin, Wei; Liu, Siqi; Pan, Hao; Tang, Xiaoli; Wang, Jian; Wang, Wei; Yu, Jun; Zhang, Bo; Zhang, Qingrun; Zhao, Hongbin; Zhao, Hui; Zhou, Jun; Gabriel, Stacey B; Barry, Rachel; Blumenstiel, Brendan; Camargo, Amy; Defelice, Matthew; Faggart, Maura; Goyette, Mary; Gupta, Supriya; Moore, Jamie; Nguyen, Huy; Onofrio, Robert C; Parkin, Melissa; Roy, Jessica; Stahl, Erich; Winchester, Ellen; Ziaugra, Liuda; Altshuler, David; Shen, Yan; Yao, Zhijian; Huang, Wei; Chu, Xun; He, Yungang; Jin, Li; Liu, Yangfan; Shen, Yayun; Sun, Weiwei; Wang, Haifeng; Wang, Yi; Wang, Ying; Xiong, Xiaoyan; Xu, Liang; Waye, Mary M Y; Tsui, Stephen K W; Xue, Hong; Wong, J Tze-Fei; Galver, Luana M; Fan, Jian-Bing; Gunderson, Kevin; Murray, Sarah S; Oliphant, Arnold R; Chee, Mark S; Montpetit, Alexandre; Chagnon, Fanny; Ferretti, Vincent; Leboeuf, Martin; Olivier, Jean-François; Phillips, Michael S; Roumy, Stéphanie; Sallée, Clémentine; Verner, Andrei; Hudson, Thomas J; Kwok, Pui-Yan; Cai, Dongmei; Koboldt, Daniel C; Miller, Raymond D; Pawlikowska, Ludmila; Taillon-Miller, Patricia; Xiao, Ming; Tsui, Lap-Chee; Mak, William; Song, You Qiang; Tam, Paul K H; Nakamura, Yusuke; Kawaguchi, Takahisa; Kitamoto, Takuya; Morizono, Takashi; Nagashima, Atsushi; Ohnishi, Yozo; Sekine, Akihiro; Tanaka, Toshihiro; Tsunoda, Tatsuhiko; Deloukas, Panos; Bird, Christine P; Delgado, Marcos; Dermitzakis, Emmanouil T; Gwilliam, Rhian; Hunt, Sarah; Morrison, Jonathan; Powell, Don; Stranger, Barbara E; Whittaker, Pamela; Bentley, David R; Daly, Mark J; de Bakker, Paul I W; Barrett, Jeff; Chretien, Yves R; Maller, Julian; McCarroll, Steve; Patterson, Nick; Pe'er, Itsik; Price, Alkes; Purcell, Shaun; Richter, Daniel J; Sabeti, Pardis; Saxena, Richa; Schaffner, Stephen F; Sham, Pak C; Varilly, Patrick; Altshuler, David; Stein, Lincoln D; Krishnan, Lalitha; Smith, Albert Vernon; Tello-Ruiz, Marcela K; Thorisson, Gudmundur A; Chakravarti, Aravinda; Chen, Peter E; Cutler, David J; Kashuk, Carl S; Lin, Shin; Abecasis, Gonçalo R; Guan, Weihua; Li, Yun; Munro, Heather M; Qin, Zhaohui Steve; Thomas, Daryl J; McVean, Gilean; Auton, Adam; Bottolo, Leonardo; Cardin, Niall; Eyheramendy, Susana; Freeman, Colin; Marchini, Jonathan; Myers, Simon; Spencer, Chris; Stephens, Matthew; Donnelly, Peter; Cardon, Lon R; Clarke, Geraldine; Evans, David M; Morris, Andrew P; Weir, Bruce S; Tsunoda, Tatsuhiko; Johnson, Todd A; Mullikin, James C; Sherry, Stephen T; Feolo, Michael; Skol, Andrew; Zhang, Houcan; Zeng, Changqing; Zhao, Hui; Matsuda, Ichiro; Fukushima, Yoshimitsu; Macer, Darryl R; Suda, Eiko; Rotimi, Charles N; Adebamowo, Clement A; Ajayi, Ike; Aniagwu, Toyin; Marshall, Patricia A; Nkwodimmah, Chibuzor; Royal, Charmaine D M; Leppert, Mark F; Dixon, Missy; Peiffer, Andy; Qiu, Renzong; Kent, Alastair; Kato, Kazuto; Niikawa, Norio; Adewole, Isaac F; Knoppers, Bartha M; Foster, Morris W; Clayton, Ellen Wright; Watkin, Jessica; Gibbs, Richard A; Belmont, John W; Muzny, Donna; Nazareth, Lynne; Sodergren, Erica; Weinstock, George M; Wheeler, David A; Yakub, Imtaz; Gabriel, Stacey B; Onofrio, Robert C; Richter, Daniel J; Ziaugra, Liuda; Birren, Bruce W; Daly, Mark J; Altshuler, David; Wilson, Richard K; Fulton, Lucinda L; Rogers, Jane; Burton, John; Carter, Nigel P; Clee, Christopher M; Griffiths, Mark; Jones, Matthew C; McLay, Kirsten; Plumb, Robert W; Ross, Mark T; Sims, Sarah K; Willey, David L; Chen, Zhu; Han, Hua; Kang, Le; Godbout, Martin; Wallenburg, John C; L'Archevêque, Paul; Bellemare, Guy; Saeki, Koji; Wang, Hongguang; An, Daochang; Fu, Hongbo; Li, Qing; Wang, Zhen; Wang, Renwu; Holden, Arthur L; Brooks, Lisa D; McEwen, Jean E; Guyer, Mark S; Wang, Vivian Ota; Peterson, Jane L; Shi, Michael; Spiegel, Jack; Sung, Lawrence M; Zacharia, Lynn F; Collins, Francis S; Kennedy, Karen; Jamieson, Ruth; Stewart, John

2007-10-18

With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (HapMap2). We used 'long-range haplotype' methods, which were developed to identify alleles segregating in a population that have undergone recent selection, and we also developed new methods that are based on cross-population comparisons to discover alleles that have swept to near-fixation within a population. The analysis reveals more than 300 strong candidate regions. Focusing on the strongest 22 regions, we develop a heuristic for scrutinizing these regions to identify candidate targets of selection. In a complementary analysis, we identify 26 non-synonymous, coding, single nucleotide polymorphisms showing regional evidence of positive selection. Examination of these candidates highlights three cases in which two genes in a common biological process have apparently undergone positive selection in the same population:LARGE and DMD, both related to infection by the Lassa virus, in West Africa;SLC24A5 and SLC45A2, both involved in skin pigmentation, in Europe; and EDAR and EDA2R, both involved in development of hair follicles, in Asia.

“Candidatus Gortzia shahrazadis”, a Novel Endosymbiont of Paramecium multimicronucleatum and a Revision of the Biogeographical Distribution of Holospora-Like Bacteria

PubMed Central

Serra, Valentina; Fokin, Sergei I.; Castelli, Michele; Basuri, Charan K.; Nitla, Venkatamahesh; Verni, Franco; Sandeep, Bhagavatula V.; Kalavati, Chaganti; Petroni, Giulio

2016-01-01

Holospora spp. and “Candidatus Gortzia infectiva”, known as Holospora-like bacteria (HLB), are commonly found as nuclear endosymbionts of ciliates, especially the Paramecium genus. HLB are related by phylogenetic relationships, morphological features, and life-cycles, which involve two alternating morphotypes: reproductive and infectious forms (RF, IF). In this paper we describe a novel species belonging to the “Ca. Gortzia” genus, detected in P. multimicronucleatum, a ciliate for which infection by an HLB has not been reported, discovered in India. This novel endosymbiont shows unusual and surprising features with respect to other HLB, such as large variations in IF morphology and the occasional ability to reproduce in the host cytoplasm. We propose the name of “Candidatus Gortzia shahrazadis” for this novel HLB. Moreover, we report two additional species of HLB from Indian Paramecium populations: “Ca. Gortzia infectiva” (from P. jenningsi), and H. obtusa (from P. caudatum); the latter is the first record of Holospora from a tropical country. Although tropical, we retrieved H. obtusa at an elevation of 706 m corresponding to a moderate climate not unlike conditions where Holospora are normally found, suggesting the genus Holospora does exist in tropical countries, but restricted to higher elevations. PMID:27867371

Decreased necrotizing fasciitis capacity caused by a single nucleotide mutation that alters a multiple gene virulence axis

PubMed Central

Olsen, Randall J.; Sitkiewicz, Izabela; Ayeras, Ara A.; Gonulal, Vedia E.; Cantu, Concepcion; Beres, Stephen B.; Green, Nicole M.; Lei, Benfang; Humbird, Tammy; Greaver, Jamieson; Chang, Ellen; Ragasa, Willie P.; Montgomery, Charles A.; Cartwright, Joiner; McGeer, Allison; Low, Donald E.; Whitney, Adeline R.; Cagle, Philip T.; Blasdel, Terry L.; DeLeo, Frank R.; Musser, James M.

2010-01-01

Single-nucleotide changes are the most common cause of natural genetic variation among members of the same species, but there is remarkably little information bearing on how they alter bacterial virulence. We recently discovered a single-nucleotide mutation in the group A Streptococcus genome that is epidemiologically associated with decreased human necrotizing fasciitis (“flesh-eating disease”). Working from this clinical observation, we find that wild-type mtsR function is required for group A Streptococcus to cause necrotizing fasciitis in mice and nonhuman primates. Expression microarray analysis revealed that mtsR inactivation results in overexpression of PrsA, a chaperonin involved in posttranslational maturation of SpeB, an extracellular cysteine protease. Isogenic mutant strains that overexpress prsA or lack speB had decreased secreted protease activity in vivo and recapitulated the necrotizing fasciitis-negative phenotype of the ΔmtsR mutant strain in mice and monkeys. mtsR inactivation results in increased PrsA expression, which in turn causes decreased SpeB secreted protease activity and reduced necrotizing fasciitis capacity. Thus, a naturally occurring single-nucleotide mutation dramatically alters virulence by dysregulating a multiple gene virulence axis. Our discovery has broad implications for the confluence of population genomics and molecular pathogenesis research. PMID:20080771

Aboriginal Australian mitochondrial genome variation - an increased understanding of population antiquity and diversity

NASA Astrophysics Data System (ADS)

Nagle, Nano; van Oven, Mannis; Wilcox, Stephen; van Holst Pellekaan, Sheila; Tyler-Smith, Chris; Xue, Yali; Ballantyne, Kaye N.; Wilcox, Leah; Papac, Luka; Cooke, Karen; van Oorschot, Roland A. H.; McAllister, Peter; Williams, Lesley; Kayser, Manfred; Mitchell, R. John; Adhikarla, Syama; Adler, Christina J.; Balanovska, Elena; Balanovsky, Oleg; Bertranpetit, Jaume; Clarke, Andrew C.; Comas, David; Cooper, Alan; der Sarkissian, Clio S. I.; Dulik, Matthew C.; Gaieski, Jill B.; Ganeshprasad, Arunkumar; Haak, Wolfgang; Haber, Marc; Hobbs, Angela; Javed, Asif; Jin, Li; Kaplan, Matthew E.; Li, Shilin; Martínez-Cruz, Begoña; Matisoo-Smith, Elizabeth A.; Melé, Marta; Merchant, Nirav C.; Owings, Amanda C.; Parida, Laxmi; Pitchappan, Ramasamy; Platt, Daniel E.; Quintana-Murci, Lluis; Renfrew, Colin; Royyuru, Ajay K.; Santhakumari, Arun Varatharajan; Santos, Fabrício R.; Schurr, Theodore G.; Soodyall, Himla; Soria Hernanz, David F.; Swamikrishnan, Pandikumar; Vilar, Miguel G.; Wells, R. Spencer; Zalloua, Pierre A.; Ziegle, Janet S.

2017-03-01

Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 thousand years ago. Genetic studies, though limited, have demonstrated both the uniqueness and antiquity of Aboriginal Australian genomes. We have further resolved known Aboriginal Australian mitochondrial haplogroups and discovered novel indigenous lineages by sequencing the mitogenomes of 127 contemporary Aboriginal Australians. In particular, the more common haplogroups observed in our dataset included M42a, M42c, S, P5 and P12, followed by rarer haplogroups M15, M16, N13, O, P3, P6 and P8. We propose some major phylogenetic rearrangements, such as in haplogroup P where we delinked P4a and P4b and redefined them as P4 (New Guinean) and P11 (Australian), respectively. Haplogroup P2b was identified as a novel clade potentially restricted to Torres Strait Islanders. Nearly all Aboriginal Australian mitochondrial haplogroups detected appear to be ancient, with no evidence of later introgression during the Holocene. Our findings greatly increase knowledge about the geographic distribution and phylogenetic structure of mitochondrial lineages that have survived in contemporary descendants of Australia’s first settlers.

Identical synchronization of nonidentical oscillators: when only birds of different feathers flock together

NASA Astrophysics Data System (ADS)

Zhang, Yuanzhao; Motter, Adilson E.

2018-01-01

An outstanding problem in the study of networks of heterogeneous dynamical units concerns the development of rigorous methods to probe the stability of synchronous states when the differences between the units are not small. Here, we address this problem by presenting a generalization of the master stability formalism that can be applied to heterogeneous oscillators with large mismatches. Our approach is based on the simultaneous block diagonalization of the matrix terms in the variational equation, and it leads to dimension reduction that simplifies the original equation significantly. This new formalism allows the systematic investigation of scenarios in which the oscillators need to be nonidentical in order to reach an identical state, where all oscillators are completely synchronized. In the case of networks of identically coupled oscillators, this corresponds to breaking the symmetry of the system as a means to preserve the symmetry of the dynamical state— a recently discovered effect termed asymmetry-induced synchronization (AISync). Our framework enables us to identify communication delay as a new and potentially common mechanism giving rise to AISync, which we demonstrate using networks of delay-coupled Stuart-Landau oscillators. The results also have potential implications for control, as they reveal oscillator heterogeneity as an attribute that may be manipulated to enhance the stability of synchronous states.

Decreased necrotizing fasciitis capacity caused by a single nucleotide mutation that alters a multiple gene virulence axis.

PubMed

Olsen, Randall J; Sitkiewicz, Izabela; Ayeras, Ara A; Gonulal, Vedia E; Cantu, Concepcion; Beres, Stephen B; Green, Nicole M; Lei, Benfang; Humbird, Tammy; Greaver, Jamieson; Chang, Ellen; Ragasa, Willie P; Montgomery, Charles A; Cartwright, Joiner; McGeer, Allison; Low, Donald E; Whitney, Adeline R; Cagle, Philip T; Blasdel, Terry L; DeLeo, Frank R; Musser, James M

2010-01-12

Single-nucleotide changes are the most common cause of natural genetic variation among members of the same species, but there is remarkably little information bearing on how they alter bacterial virulence. We recently discovered a single-nucleotide mutation in the group A Streptococcus genome that is epidemiologically associated with decreased human necrotizing fasciitis ("flesh-eating disease"). Working from this clinical observation, we find that wild-type mtsR function is required for group A Streptococcus to cause necrotizing fasciitis in mice and nonhuman primates. Expression microarray analysis revealed that mtsR inactivation results in overexpression of PrsA, a chaperonin involved in posttranslational maturation of SpeB, an extracellular cysteine protease. Isogenic mutant strains that overexpress prsA or lack speB had decreased secreted protease activity in vivo and recapitulated the necrotizing fasciitis-negative phenotype of the DeltamtsR mutant strain in mice and monkeys. mtsR inactivation results in increased PrsA expression, which in turn causes decreased SpeB secreted protease activity and reduced necrotizing fasciitis capacity. Thus, a naturally occurring single-nucleotide mutation dramatically alters virulence by dysregulating a multiple gene virulence axis. Our discovery has broad implications for the confluence of population genomics and molecular pathogenesis research.

Discriminative Relational Topic Models.

PubMed

Chen, Ning; Zhu, Jun; Xia, Fei; Zhang, Bo

2015-05-01

Relational topic models (RTMs) provide a probabilistic generative process to describe both the link structure and document contents for document networks, and they have shown promise on predicting network structures and discovering latent topic representations. However, existing RTMs have limitations in both the restricted model expressiveness and incapability of dealing with imbalanced network data. To expand the scope and improve the inference accuracy of RTMs, this paper presents three extensions: 1) unlike the common link likelihood with a diagonal weight matrix that allows the-same-topic interactions only, we generalize it to use a full weight matrix that captures all pairwise topic interactions and is applicable to asymmetric networks; 2) instead of doing standard Bayesian inference, we perform regularized Bayesian inference (RegBayes) with a regularization parameter to deal with the imbalanced link structure issue in real networks and improve the discriminative ability of learned latent representations; and 3) instead of doing variational approximation with strict mean-field assumptions, we present collapsed Gibbs sampling algorithms for the generalized relational topic models by exploring data augmentation without making restricting assumptions. Under the generic RegBayes framework, we carefully investigate two popular discriminative loss functions, namely, the logistic log-loss and the max-margin hinge loss. Experimental results on several real network datasets demonstrate the significance of these extensions on improving prediction performance.

Aboriginal Australian mitochondrial genome variation - an increased understanding of population antiquity and diversity.

PubMed

Nagle, Nano; van Oven, Mannis; Wilcox, Stephen; van Holst Pellekaan, Sheila; Tyler-Smith, Chris; Xue, Yali; Ballantyne, Kaye N; Wilcox, Leah; Papac, Luka; Cooke, Karen; van Oorschot, Roland A H; McAllister, Peter; Williams, Lesley; Kayser, Manfred; Mitchell, R John

2017-03-13

Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 thousand years ago. Genetic studies, though limited, have demonstrated both the uniqueness and antiquity of Aboriginal Australian genomes. We have further resolved known Aboriginal Australian mitochondrial haplogroups and discovered novel indigenous lineages by sequencing the mitogenomes of 127 contemporary Aboriginal Australians. In particular, the more common haplogroups observed in our dataset included M42a, M42c, S, P5 and P12, followed by rarer haplogroups M15, M16, N13, O, P3, P6 and P8. We propose some major phylogenetic rearrangements, such as in haplogroup P where we delinked P4a and P4b and redefined them as P4 (New Guinean) and P11 (Australian), respectively. Haplogroup P2b was identified as a novel clade potentially restricted to Torres Strait Islanders. Nearly all Aboriginal Australian mitochondrial haplogroups detected appear to be ancient, with no evidence of later introgression during the Holocene. Our findings greatly increase knowledge about the geographic distribution and phylogenetic structure of mitochondrial lineages that have survived in contemporary descendants of Australia's first settlers.

SZGR 2.0: a one-stop shop of schizophrenia candidate genes

PubMed Central

Jia, Peilin; Han, Guangchun; Zhao, Junfei; Lu, Pinyi; Zhao, Zhongming

2017-01-01

SZGR 2.0 is a comprehensive resource of candidate variants and genes for schizophrenia, covering genetic, epigenetic, transcriptomic, translational and many other types of evidence. By systematic review and curation of multiple lines of evidence, we included almost all variants and genes that have ever been reported to be associated with schizophrenia. In particular, we collected ∼4200 common variants reported in genome-wide association studies, ∼1000 de novo mutations discovered by large-scale sequencing of family samples, 215 genes spanning rare and replication copy number variations, 99 genes overlapping with linkage regions, 240 differentially expressed genes, 4651 differentially methylated genes and 49 genes as antipsychotic drug targets. To facilitate interpretation, we included various functional annotation data, especially brain eQTL, methylation QTL, brain expression featured in deep categorization of brain areas and developmental stages and brain-specific promoter and enhancer annotations. Furthermore, we conducted cross-study, cross-data type and integrative analyses of the multidimensional data deposited in SZGR 2.0, and made the data and results available through a user-friendly interface. In summary, SZGR 2.0 provides a one-stop shop of schizophrenia variants and genes and their function and regulation, providing an important resource in the schizophrenia and other mental disease community. SZGR 2.0 is available at https://bioinfo.uth.edu/SZGR/. PMID:27733502

Open water camouflage via 'leaky' light guides in the midwater squid Galiteuthis.

PubMed

Holt, Amanda L; Sweeney, Alison M

2016-06-01

Galiteuthis, a midwater squid, has photophores on the ventral surfaces of its eyes. These photophores emit bioluminescence to counter-illuminate the shadows cast by the eyes in downwelling sunlight, thereby hiding the eyes from upward-looking predators. The photophores consist of laminated fibre-like cells with semi-coaxial protein-dense layers around axial cytoplasm. These cells have been suggested to function as light guides: bioluminescence is an isotropic process used to hide in an anisotropic light environment, so any emission must be reshaped to be effective. We found a wide variation in cross-sectional geometries of photophore cells; some were more efficient at light guiding than others. We used a set of optical models to place these photophores in the context of the radiance where Galiteuthis lives and discovered a possible adaptive reason for this variation. In Galiteuthis's horizontal and vertical range, ocean radiance is also quite variable. For complete camouflage, photophores must reproduce this variation in radiance using an isotropic source. Our models show that variation in the geometry of the photophore light guides reproduces the predicted variation in ocean radiance experienced by this species. By selectively activating geometrically distinct populations of photophore cells, the animal may reproduce the angular distribution of light at all positions in its habitat. © 2016 The Author(s).

Ensembl variation resources

PubMed Central

2010-01-01

Background The maturing field of genomics is rapidly increasing the number of sequenced genomes and producing more information from those previously sequenced. Much of this additional information is variation data derived from sampling multiple individuals of a given species with the goal of discovering new variants and characterising the population frequencies of the variants that are already known. These data have immense value for many studies, including those designed to understand evolution and connect genotype to phenotype. Maximising the utility of the data requires that it be stored in an accessible manner that facilitates the integration of variation data with other genome resources such as gene annotation and comparative genomics. Description The Ensembl project provides comprehensive and integrated variation resources for a wide variety of chordate genomes. This paper provides a detailed description of the sources of data and the methods for creating the Ensembl variation databases. It also explores the utility of the information by explaining the range of query options available, from using interactive web displays, to online data mining tools and connecting directly to the data servers programmatically. It gives a good overview of the variation resources and future plans for expanding the variation data within Ensembl. Conclusions Variation data is an important key to understanding the functional and phenotypic differences between individuals. The development of new sequencing and genotyping technologies is greatly increasing the amount of variation data known for almost all genomes. The Ensembl variation resources are integrated into the Ensembl genome browser and provide a comprehensive way to access this data in the context of a widely used genome bioinformatics system. All Ensembl data is freely available at http://www.ensembl.org and from the public MySQL database server at ensembldb.ensembl.org. PMID:20459805

High levels of variation in Salix lignocellulose genes revealed using poplar genomic resources

PubMed Central

2013-01-01

Background Little is known about the levels of variation in lignin or other wood related genes in Salix, a genus that is being increasingly used for biomass and biofuel production. The lignin biosynthesis pathway is well characterized in a number of species, including the model tree Populus. We aimed to transfer the genomic resources already available in Populus to its sister genus Salix to assess levels of variation within genes involved in wood formation. Results Amplification trials for 27 gene regions were undertaken in 40 Salix taxa. Twelve of these regions were sequenced. Alignment searches of the resulting sequences against reference databases, combined with phylogenetic analyses, showed the close similarity of these Salix sequences to Populus, confirming homology of the primer regions and indicating a high level of conservation within the wood formation genes. However, all sequences were found to vary considerably among Salix species, mainly as SNPs with a smaller number of insertions-deletions. Between 25 and 176 SNPs per kbp per gene region (in predicted exons) were discovered within Salix. Conclusions The variation found is sizeable but not unexpected as it is based on interspecific and not intraspecific comparison; it is comparable to interspecific variation in Populus. The characterisation of genetic variation is a key process in pre-breeding and for the conservation and exploitation of genetic resources in Salix. This study characterises the variation in several lignocellulose gene markers for such purposes. PMID:23924375

A newly identified variation at the entry of the recurrent laryngeal nerve into the larynx.

PubMed

Shao, Tanglei; Yang, Weiping; Zhang, Tao; Wang, Yang; Jin, Xiaotai; Li, Qinyu; Kuang, Jie; Qiu, Weihua; Chu, Peiguo G; Yen, Yun

2010-12-01

We aimed to highlight a new anatomical variation of the recurrent laryngeal nerve (RLN), and to emphasize its implications for thyroid surgery. A prospective study was carried out in a group of 3,078 consecutive thyroidectomies from 1998 to 2008. Total, near-total, subtotal, and partial thyroidectomy were performed for various thyroid diseases. The RLN was routinely identified and exposed in its entire course until the entry into the larynx. The postoperative complications of patients with different variations were compared. 4,241 RLNs were successfully identified in all patients unilaterally or bilaterally. In addition to extralaryngeal branching and nonrecurrent laryngeal nerves, an unreported variation was identified in 44 RLNs (1.04%) at their entries into the larynx. The variation happened at the trunk or the branches of the RLN entering the larynx far from the posterior of cricothyroid joint, and the entry was higher than the superior cornu of the thyroid cartilage and the arch of the cricoid. The median distance from the entry to the posterior of cricothyroid joint was more than 5 mm. As the trunk or the branches had to travel along the lateral edge of the upper 1/3 of the thyroid before entering the larynx, the incidence of RLN palsy was higher than that in extralaryngeal branching variations (p < .05). This newly discovered variation of the RLN is more vulnerable to injury and should be brought to the attention of surgeons.

Simulating the Timescale-Dependent Color Variation in Quasars with a Revised Inhomogeneous Disk Model

NASA Astrophysics Data System (ADS)

Cai, Zhen-Yi; Wang, Jun-Xian; Gu, Wei-Min; Sun, Yu-Han; Wu, Mao-Chun; Huang, Xing-Xing; Chen, Xiao-Yang

2016-07-01

The UV-optical variability of active galactic nuclei and quasars is useful for understanding the physics of the accretion disk and is gradually being attributed to stochastic fluctuations over the accretion disk. Quasars generally appear bluer when they brighten in the UV-optical bands; the nature of this phenomenon remains controversial. Recently, Sun et al. discovered that the color variation of quasars is timescale-dependent, in the way that faster variations are even bluer than longer term ones. While this discovery can directly rule out models that simply attribute the color variation to contamination from the host galaxies, or to changes in the global accretion rates, it favors the stochastic disk fluctuation model as fluctuations in the inner-most hotter disk could dominate the short-term variations. In this work, we show that a revised inhomogeneous disk model, where the characteristic timescales of thermal fluctuations in the disk are radius-dependent (I.e., τ ˜ r; based on that originally proposed by Dexter & Agol), can reproduce well a timescale-dependent color variation pattern, similar to the observed one and unaffected by the uneven sampling and photometric error. This demonstrates that one may statistically use variation emission at different timescales to spatially resolve the accretion disk in quasars, thus opening a new window with which to probe and test the accretion disk physics in the era of time domain astronomy. Caveats of the current model, which ought to be addressed in future simulations, are discussed.

Sequence variants of Toll-like receptor 4 and susceptibility to prostate cancer.

PubMed

Chen, Yen-Ching; Giovannucci, Edward; Lazarus, Ross; Kraft, Peter; Ketkar, Shamika; Hunter, David J

2005-12-15

Chronic inflammation has been hypothesized to be a risk factor for prostate cancer. The Toll-like receptor 4 (TLR4) presents the bacterial lipopolysaccharide (LPS), which interacts with ligand-binding protein and CD14 (LPS receptor) and activates expression of inflammatory genes through nuclear factor-kappaB and mitogen-activated protein kinase signaling. A previous case-control study found a modest association of a polymorphism in the TLR4 gene [11381G/C, GG versus GC/CC: odds ratio (OR), 1.26] with risk of prostate cancer. We assessed if sequence variants of TLR4 were associated with the risk of prostate cancer. In a nested case-control design within the Health Professionals Follow-up Study, we identified 700 participants with prostate cancer diagnosed after they had provided a blood specimen in 1993 and before January 2000. Controls were 700 age-matched men without prostate cancer who had had a prostate-specific antigen test after providing a blood specimen. We genotyped 16 common (>5%) single nucleotide polymorphisms (SNP) discovered in a resequencing study spanning TLR4 to test for association between sequence variation in TLR4 and prostate cancer. Homozygosity for the variant alleles of eight SNPs was associated with a statistically significantly lower risk of prostate cancer (TLR4_1893, TLR4_2032, TLR4_2437, TLR4_7764, TLR4_11912, TLR4_16649, TLR4_17050, and TLR4_17923), but the TLR4_15844 polymorphism corresponding to 11381G/C was not associated with prostate cancer (GG versus CG/CC: OR, 1.01; 95% confidence interval, 0.79-1.29). Six common haplotypes (cumulative frequency, 81%) were observed; the global test for association between haplotypes and prostate cancer was statistically significant (chi(2) = 14.8 on 6 degrees of freedom; P = 0.02). Two common haplotypes were statistically significantly associated with altered risk of prostate cancer. Inherited polymorphisms of the innate immune gene TLR4 are associated with risk of prostate cancer.

Chloroplast DNA variation of northern red oak

Treesearch

Jeanne Romero-Severson; Preston Aldrich; Yi Feng; Weilin Sun; Charles Michler

2003-01-01

Chloroplast DNA (cpDNA) variation was examined in 48 northern red oaks at 14 sites representing contrasting glacial histories and age structures within the state of Indiana in the United States. PCR-RFLP of three intergenic regions revealed five haplotypes. Haplotype I was common to seven sites and was the most frequent (17 trees). Haplotype II was common to five sites...

Liquid metal amoeba with spontaneous pseudopodia formation and motion capability.

PubMed

Hu, Liang; Yuan, Bin; Liu, Jing

2017-08-03

The unique motion of amoeba with a deformable body has long been an intriguing issue in scientific fields ranging from physics, bionics to mechanics. So far, most of the currently available artificial machines are still hard to achieve the complicated amoeba-like behaviors including stretching pseudopodia. Here through introducing a multi-materials system, we discovered a group of very unusual biomimetic amoeba-like behaviors of self-fueled liquid gallium alloy on the graphite surface immersed in alkaline solution. The underlying mechanisms were discovered to be the surface tension variations across the liquid metal droplet through its simultaneous electrochemical interactions with aluminum and graphite in the NaOH electrolyte. This finding would shed light on the packing and the structural design of future soft robots owning diverse deformation capability. Moreover, this study related the physical transformation of a non-living LM droplet to the life behavior of amoeba in nature, which is inspiring in human's pursuit of advanced biomimetic machine.

Single-cell transcriptional dynamics of flavivirus infection

PubMed Central

Bekerman, Elena

2018-01-01

Dengue and Zika viral infections affect millions of people annually and can be complicated by hemorrhage and shock or neurological manifestations, respectively. However, a thorough understanding of the host response to these viruses is lacking, partly because conventional approaches ignore heterogeneity in virus abundance across cells. We present viscRNA-Seq (virus-inclusive single cell RNA-Seq), an approach to probe the host transcriptome together with intracellular viral RNA at the single cell level. We applied viscRNA-Seq to monitor dengue and Zika virus infection in cultured cells and discovered extreme heterogeneity in virus abundance. We exploited this variation to identify host factors that show complex dynamics and a high degree of specificity for either virus, including proteins involved in the endoplasmic reticulum translocon, signal peptide processing, and membrane trafficking. We validated the viscRNA-Seq hits and discovered novel proviral and antiviral factors. viscRNA-Seq is a powerful approach to assess the genome-wide virus-host dynamics at single cell level. PMID:29451494

Hypothesis-Free Search for Connections between Birth Month and Disease Prevalence in Large, Geographically Varied Cohorts

PubMed Central

Borsi, John P.

2016-01-01

We have sought to replicate and extend the Season-wide Association Study (SeaWAS) of Boland, et al.1 in identifying birth month-disease associations from electronic health records (EHRs). We used methodology similar to that implemented by Boland on three geographically distinct cohorts, for a total of 11.8 million individuals derived from multiple data sources. We were able to identify eleven out of sixteen literature-supported birth month associations as compared to seven of sixteen for SeaWAS. Of the nine novel cardiovascular birth month associations discovered by SeaWAS, we were able to replicate four. None of the novel non-cardiovascular associations discovered by SeaWAS emerged as significant relations in our study. We identified thirty birth month disease associations not previously reported; of those, only six associations were validated in more than one cohort. These results suggest that differences in cohort composition and location can cause consequential variation in results of hypothesis-free searches. PMID:28269826

The Arab genome: Health and wealth.

PubMed

Zayed, Hatem

2016-11-05

The 22 Arab nations have a unique genetic structure, which reflects both conserved and diverse gene pools due to the prevalent endogamous and consanguineous marriage culture and the long history of admixture among different ethnic subcultures descended from the Asian, European, and African continents. Human genome sequencing has enabled large-scale genomic studies of different populations and has become a powerful tool for studying disease predictions and diagnosis. Despite the importance of the Arab genome for better understanding the dynamics of the human genome, discovering rare genetic variations, and studying early human migration out of Africa, it is poorly represented in human genome databases, such as HapMap and the 1000 Genomes Project. In this review, I demonstrate the significance of sequencing the Arab genome and setting an Arab genome reference(s) for better understanding the molecular pathogenesis of genetic diseases, discovering novel/rare variants, and identifying a meaningful genotype-phenotype correlation for complex diseases. Copyright © 2016. Published by Elsevier B.V.

Molecular genetic contributions to socioeconomic status and intelligence

PubMed Central

Marioni, Riccardo E.; Davies, Gail; Hayward, Caroline; Liewald, Dave; Kerr, Shona M.; Campbell, Archie; Luciano, Michelle; Smith, Blair H.; Padmanabhan, Sandosh; Hocking, Lynne J.; Hastie, Nicholas D.; Wright, Alan F.; Porteous, David J.; Visscher, Peter M.; Deary, Ian J.

2014-01-01

Education, socioeconomic status, and intelligence are commonly used as predictors of health outcomes, social environment, and mortality. Education and socioeconomic status are typically viewed as environmental variables although both correlate with intelligence, which has a substantial genetic basis. Using data from 6815 unrelated subjects from the Generation Scotland study, we examined the genetic contributions to these variables and their genetic correlations. Subjects underwent genome-wide testing for common single nucleotide polymorphisms (SNPs). DNA-derived heritability estimates and genetic correlations were calculated using the ‘Genome-wide Complex Trait Analyses’ (GCTA) procedures. 21% of the variation in education, 18% of the variation in socioeconomic status, and 29% of the variation in general cognitive ability was explained by variation in common SNPs (SEs ~ 5%). The SNP-based genetic correlations of education and socioeconomic status with general intelligence were 0.95 (SE 0.13) and 0.26 (0.16), respectively. There are genetic contributions to intelligence and education with near-complete overlap between common additive SNP effects on these traits (genetic correlation ~ 1). Genetic influences on socioeconomic status are also associated with the genetic foundations of intelligence. The results are also compatible with substantial environmental contributions to socioeconomic status. PMID:24944428

Molecular genetic contributions to socioeconomic status and intelligence.

PubMed

Marioni, Riccardo E; Davies, Gail; Hayward, Caroline; Liewald, Dave; Kerr, Shona M; Campbell, Archie; Luciano, Michelle; Smith, Blair H; Padmanabhan, Sandosh; Hocking, Lynne J; Hastie, Nicholas D; Wright, Alan F; Porteous, David J; Visscher, Peter M; Deary, Ian J

2014-05-01

Education, socioeconomic status, and intelligence are commonly used as predictors of health outcomes, social environment, and mortality. Education and socioeconomic status are typically viewed as environmental variables although both correlate with intelligence, which has a substantial genetic basis. Using data from 6815 unrelated subjects from the Generation Scotland study, we examined the genetic contributions to these variables and their genetic correlations. Subjects underwent genome-wide testing for common single nucleotide polymorphisms (SNPs). DNA-derived heritability estimates and genetic correlations were calculated using the 'Genome-wide Complex Trait Analyses' (GCTA) procedures. 21% of the variation in education, 18% of the variation in socioeconomic status, and 29% of the variation in general cognitive ability was explained by variation in common SNPs (SEs ~ 5%). The SNP-based genetic correlations of education and socioeconomic status with general intelligence were 0.95 (SE 0.13) and 0.26 (0.16), respectively. There are genetic contributions to intelligence and education with near-complete overlap between common additive SNP effects on these traits (genetic correlation ~ 1). Genetic influences on socioeconomic status are also associated with the genetic foundations of intelligence. The results are also compatible with substantial environmental contributions to socioeconomic status.

Approaches for assessing and discovering protein interactions in cancer

PubMed Central

Mohammed, Hisham; Carroll, Jason S.

2013-01-01

Significant insight into the function of proteins, can be delineated by discovering and characterising interacting proteins. There are numerous methods for the discovery of unknown associated protein networks, with purification of the bait (the protein of interest) followed by Mass Spectrometry (MS) as a common theme. In recent years, advances have permitted the purification of endogenous proteins and methods for scaling down starting material. As such, approaches for rapid, unbiased identification of protein interactomes are becoming a standard tool in the researchers toolbox, rather than a technique that is only available to specialists. This review will highlight some of the recent technical advances in proteomic based discovery approaches, the pros and cons of various methods and some of the key findings in cancer related systems. PMID:24072816

Epidemiology, Genetic Recombination, and Pathogenesis of Coronaviruses.

PubMed

Su, Shuo; Wong, Gary; Shi, Weifeng; Liu, Jun; Lai, Alexander C K; Zhou, Jiyong; Liu, Wenjun; Bi, Yuhai; Gao, George F

2016-06-01

Human coronaviruses (HCoVs) were first described in the 1960s for patients with the common cold. Since then, more HCoVs have been discovered, including those that cause severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS), two pathogens that, upon infection, can cause fatal respiratory disease in humans. It was recently discovered that dromedary camels in Saudi Arabia harbor three different HCoV species, including a dominant MERS HCoV lineage that was responsible for the outbreaks in the Middle East and South Korea during 2015. In this review we aim to compare and contrast the different HCoVs with regard to epidemiology and pathogenesis, in addition to the virus evolution and recombination events which have, on occasion, resulted in outbreaks amongst humans. Copyright © 2016 Elsevier Ltd. All rights reserved.

The Effects of Core-Mantle Interactions on Earth Rotation, Surface Deformation, and Gravity Changes

NASA Astrophysics Data System (ADS)

Watkins, A.; Gross, R. S.; Fu, Y.

2017-12-01

The length-of-day (LOD) contains a 6-year signal, the cause of which is currently unknown. The signal remains after removing tidal and surface fluid effects, thus the cause is generally believed to be angular momentum exchange between the mantle and core. Previous work has established a theoretical relationship between pressure variations at the core-mantle boundary (CMB) and resulting deformation of the overlying mantle and crust. This study examines globally distributed GPS deformation data in search of this effect, and inverts the discovered global inter-annual component for the CMB pressure variations. The geostrophic assumption is then used to obtain fluid flow solutions at the edge of the core from the CMB pressure variations. Taylor's constraint is applied to obtain the flow deeper within the core, and the equivalent angular momentum and LOD changes are computed and compared to the known 6-year LOD signal. The amplitude of the modeled and measured LOD changes agree, but the degree of period and phase agreement is dependent upon the method of isolating the desired component in the GPS position data. Implications are discussed, and predictions are calculated for surface gravity field changes that would arise from the CMB pressure variations.

Perils and pitfalls of reporting sex differences

PubMed Central

Maney, Donna L.

2016-01-01

The idea of sex differences in the brain both fascinates and inflames the public. As a result, the communication and public discussion of new findings is particularly vulnerable to logical leaps and pseudoscience. A new US National Institutes of Health policy to consider both sexes in almost all preclinical research will increase the number of reported sex differences and thus the risk that research in this important area will be misinterpreted and misrepresented. In this article, I consider ways in which we might reduce that risk, for example, by (i) employing statistical tests that reveal the extent to which sex explains variation, rather than whether or not the sexes ‘differ’, (ii) properly characterizing the frequency distributions of scores or dependent measures, which nearly always overlap, and (iii) avoiding speculative functional or evolutionary explanations for sex-based variation, which usually invoke logical fallacies and perpetuate sex stereotypes. Ultimately, the factor of sex should be viewed as an imperfect, temporary proxy for yet-unknown factors, such as hormones or sex-linked genes, that explain variation better than sex. As scientists, we should be interested in discovering and understanding the true sources of variation, which will be more informative in the development of clinical treatments. PMID:26833839

KOI-142, THE KING OF TRANSIT VARIATIONS, IS A PAIR OF PLANETS NEAR THE 2:1 RESONANCE

DOE Office of Scientific and Technical Information (OSTI.GOV)

Nesvorný, David; Terrell, Dirk; Kipping, David

2013-11-01

The transit timing variations (TTVs) can be used as a diagnostic of gravitational interactions between planets in a multi-planet system. Many Kepler Objects of Interest (KOIs) exhibit significant TTVs, but KOI-142.01 stands out among them with an unrivaled ≅12 hr TTV amplitude. Here we report a thorough analysis of KOI-142.01's transits. We discover periodic transit duration variations (TDVs) of KOI-142.01 that are nearly in phase with the observed TTVs. We show that KOI-142.01's TTVs and TDVs uniquely detect a non-transiting companion with a mass ≅0.63 that of Jupiter (KOI-142c). KOI-142.01's mass inferred from the transit variations is consistent with themore » measured transit depth, suggesting a Neptune-class planet (KOI-142b). The orbital period ratio P{sub c} /P{sub b} = 2.03 indicates that the two planets are just wide of the 2:1 resonance. The present dynamics of this system, characterized here in detail, can be used to test various formation theories that have been proposed to explain the near-resonant pairs of exoplanets.« less

Annual variations in the Martian bow shock location as observed by the Mars Express mission

NASA Astrophysics Data System (ADS)

Hall, B. E. S.; Lester, M.; Sánchez-Cano, B.; Nichols, J. D.; Andrews, D. J.; Edberg, N. J. T.; Opgenoorth, H. J.; Fränz, M.; Holmström, M.; Ramstad, R.; Witasse, O.; Cartacci, M.; Cicchetti, A.; Noschese, R.; Orosei, R.

2016-11-01

The Martian bow shock distance has previously been shown to be anticorrelated with solar wind dynamic pressure but correlated with solar extreme ultraviolet (EUV) irradiance. Since both of these solar parameters reduce with the square of the distance from the Sun, and Mars' orbit about the Sun increases by ˜0.3 AU from perihelion to aphelion, it is not clear how the bow shock location will respond to variations in these solar parameters, if at all, throughout its orbit. In order to characterize such a response, we use more than 5 Martian years of Mars Express Analyser of Space Plasma and EneRgetic Atoms (ASPERA-3) Electron Spectrometer measurements to automatically identify 11,861 bow shock crossings. We have discovered that the bow shock distance as a function of solar longitude has a minimum of 2.39RM around aphelion and proceeds to a maximum of 2.65RM around perihelion, presenting an overall variation of ˜11% throughout the Martian orbit. We have verified previous findings that the bow shock in southern hemisphere is on average located farther away from Mars than in the northern hemisphere. However, this hemispherical asymmetry is small (total distance variation of ˜2.4%), and the same annual variations occur irrespective of the hemisphere. We have identified that the bow shock location is more sensitive to variations in the solar EUV irradiance than to solar wind dynamic pressure variations. We have proposed possible interaction mechanisms between the solar EUV flux and Martian plasma environment that could explain this annual variation in bow shock location.

CLASP/SJ Observations of Rapid Time Variations in the Ly α Emission in a Solar Active Region

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ishikawa, Shin-nosuke; Kubo, Masahito; Katsukawa, Yukio

The Chromospheric Ly α SpectroPolarimeter (CLASP) is a sounding rocket experiment launched on 2015 September 3 to investigate the solar chromosphere and transition region. The slit-jaw (SJ) optical system captured Ly α images with a high time cadence of 0.6 s. From the CLASP/SJ observations, many variations in the solar chromosphere and transition region emission with a timescale of <1 minute were discovered. In this paper, we focus on the active region within the SJ field of view and investigate the relationship between short (<30 s) temporal variations in the Ly α emission and the coronal structures observed by Solarmore » Dynamics Observatory/Atmospheric Imaging Assembly (AIA). We compare the Ly α temporal variations at the coronal loop footpoints observed in the AIA 211 Å (≈2 MK) and AIA 171 Å (≈0.6 MK) channels with those in the regions with bright Ly α features without a clear association with the coronal loop footpoints. We find more short (<30 s) temporal variations in the Ly α intensity in the footpoint regions. Those variations did not depend on the temperature of the coronal loops. Therefore, the temporal variations in the Ly α intensity at this timescale range could be related to the heating of the coronal structures up to temperatures around the sensitivity peak of 171 Å. No signature was found to support the scenario that these Ly α intensity variations were related to the nanoflares. Waves or jets from the lower layers (lower chromosphere or photosphere) are possible causes for this phenomenon.« less

Quantifying the heritability of testicular germ cell tumour using both population-based and genomic approaches.

PubMed

Litchfield, Kevin; Thomsen, Hauke; Mitchell, Jonathan S; Sundquist, Jan; Houlston, Richard S; Hemminki, Kari; Turnbull, Clare

2015-09-09

A sizable fraction of testicular germ cell tumour (TGCT) risk is expected to be explained by heritable factors. Recent genome-wide association studies (GWAS) have successfully identified a number of common SNPs associated with TGCT. It is however, unclear how much common variation there is left to be accounted for by other, yet to be identified, common SNPs and what contribution common genetic variation makes to the heritable risk of TGCT. We approached this question using two complimentary analytical techniques. We undertook a population-based analysis of the Swedish family-cancer database, through which we estimated that the heritability of TGCT at 48.9% (CI:47.2%-52.3%). We also applied Genome-Wide Complex Trait Analysis to 922 cases and 4,842 controls to estimate the heritability of TGCT. The heritability explained by known common risk SNPs identified by GWAS was 9.1%, whereas the heritability explained by all common SNPs was 37.4% (CI:27.6%-47.2%). These complementary findings indicate that the known TGCT SNPs only explain a small proportion of the heritability and many additional common SNPs remain to be identified. The data also suggests that a fraction of the heritability of TGCT is likely to be explained by other classes of genetic variation, such as rare disease-causing alleles.

ATHENA: A knowledge-based hybrid backpropagation-grammatical evolution neural network algorithm for discovering epistasis among quantitative trait Loci

PubMed Central

2010-01-01

Background Growing interest and burgeoning technology for discovering genetic mechanisms that influence disease processes have ushered in a flood of genetic association studies over the last decade, yet little heritability in highly studied complex traits has been explained by genetic variation. Non-additive gene-gene interactions, which are not often explored, are thought to be one source of this "missing" heritability. Methods Stochastic methods employing evolutionary algorithms have demonstrated promise in being able to detect and model gene-gene and gene-environment interactions that influence human traits. Here we demonstrate modifications to a neural network algorithm in ATHENA (the Analysis Tool for Heritable and Environmental Network Associations) resulting in clear performance improvements for discovering gene-gene interactions that influence human traits. We employed an alternative tree-based crossover, backpropagation for locally fitting neural network weights, and incorporation of domain knowledge obtainable from publicly accessible biological databases for initializing the search for gene-gene interactions. We tested these modifications in silico using simulated datasets. Results We show that the alternative tree-based crossover modification resulted in a modest increase in the sensitivity of the ATHENA algorithm for discovering gene-gene interactions. The performance increase was highly statistically significant when backpropagation was used to locally fit NN weights. We also demonstrate that using domain knowledge to initialize the search for gene-gene interactions results in a large performance increase, especially when the search space is larger than the search coverage. Conclusions We show that a hybrid optimization procedure, alternative crossover strategies, and incorporation of domain knowledge from publicly available biological databases can result in marked increases in sensitivity and performance of the ATHENA algorithm for detecting and modelling gene-gene interactions that influence a complex human trait. PMID:20875103

Gene-Based Single Nucleotide Polymorphism Markers for Genetic and Association Mapping in Common Bean

PubMed Central

2012-01-01

Background In common bean, expressed sequence tags (ESTs) are an underestimated source of gene-based markers such as insertion-deletions (Indels) or single-nucleotide polymorphisms (SNPs). However, due to the nature of these conserved sequences, detection of markers is difficult and portrays low levels of polymorphism. Therefore, development of intron-spanning EST-SNP markers can be a valuable resource for genetic experiments such as genetic mapping and association studies. Results In this study, a total of 313 new gene-based markers were developed at target genes. Intronic variation was deeply explored in order to capture more polymorphism. Introns were putatively identified after comparing the common bean ESTs with the soybean genome, and the primers were designed over intron-flanking regions. The intronic regions were evaluated for parental polymorphisms using the single strand conformational polymorphism (SSCP) technique and Sequenom MassARRAY system. A total of 53 new marker loci were placed on an integrated molecular map in the DOR364 × G19833 recombinant inbred line (RIL) population. The new linkage map was used to build a consensus map, merging the linkage maps of the BAT93 × JALO EEP558 and DOR364 × BAT477 populations. A total of 1,060 markers were mapped, with a total map length of 2,041 cM across 11 linkage groups. As a second application of the generated resource, a diversity panel with 93 genotypes was evaluated with 173 SNP markers using the MassARRAY-platform and KASPar technology. These results were coupled with previous SSR evaluations and drought tolerance assays carried out on the same individuals. This agglomerative dataset was examined, in order to discover marker-trait associations, using general linear model (GLM) and mixed linear model (MLM). Some significant associations with yield components were identified, and were consistent with previous findings. Conclusions In short, this study illustrates the power of intron-based markers for linkage and association mapping in common bean. The utility of these markers is discussed in relation with the usefulness of microsatellites, the molecular markers by excellence in this crop. PMID:22734675

A universal approach to the study of nonlinear systems

NASA Astrophysics Data System (ADS)

Hwa, Rudolph C.

2004-07-01

A large variety of nonlinear systems have been treated by a common approach that emphasizes the fluctuation of spatial patterns. By using the same method of analysis it is possible to discuss the chaotic behaviors of quark jets and logistic map in the same language. Critical behaviors of quark-hadron phase transition in heavy-ion collisions and of photon production at the threshold of lasing can also be described by a common scaling behavior. The universal approach also makes possible an insight into the recently discovered phenomenon of wind reversal in cryogenic turbulence as a manifestation of self-organized criticality.

Simulation into Reality: Some Effects of Simulation Techniques on Organizational Communication Students.

ERIC Educational Resources Information Center

Allen, Richard K.

In an attempt to discover improved classroom teaching methods, a class was turned into a business organization as a way of bringing life to the previously covered lectures and textual materials. The simulated games were an attempt to get people to work toward a common goal with all of the power plays, secret meetings, brainstorming, anger, and…

"Just Good Different Things": Specific Accommodations Families Make to Positively Adapt to Their Children with Developmental Disabilities

ERIC Educational Resources Information Center

Maul, Christine A.; Singer, George H. S.

2009-01-01

Fifteen parents and two grandparents of children with developmental disabilities (DD) were interviewed to discover common themes regarding specific ways in which they devised positive adaptations to their everyday routines to accommodate the needs of their children with DD, how they decided upon the accommodations, and how much help they felt they…

H. J. Heinz Company: "To Do a Common Thing Uncommonly Well." Fourth Grade Social Studies Unit.

ERIC Educational Resources Information Center

Eckert, Jennifer

This integrated unit on the H. J. Heinz Company is intended for fourth grade and provides a broad understanding of history, social science, geography, science, mathematics, literature and economics. Students will discover that many other industries, besides iron and steel, were prospering in the mid-1800s. The table of contents lists: (1)…

Noncosmetic applications of liposuction.

PubMed

Coleman, W P

1988-10-01

Noncosmetic applications of liposuction have continued to appear since its introduction into the United States in 1982. Although the most common use is in removing lipomas, liposuction has also been used for benign symmetric lipomatosis, flap undermining, flap defatting, gynecomastia, pseudogynecomastia, breast reduction, buffalo hump, hypertrophic insulin lipodystrophy, lymphedema, evacuating hematomas, emergency neck defatting for airway restoration, and axillary hyperhidrosis. Other uses remain to be discovered.

The Georgia Grind: Can the Common Law Accommodate the Problems of Title in the Art World: Observations on a Recent Case.

ERIC Educational Resources Information Center

Ward, Nicholas D.

1981-01-01

A court holding disregarding the statute of limitations in a case of stolen artworks by Georgia O'Keefe (discovered many years later) makes recovery of lost works by an artist easier. The statute of limitations was not held to begin until the owner reasonably knows of the possessor's identity. (MSE)

Land and Discover! A Case Study Investigating the Cultural Context of Plagiarism

ERIC Educational Resources Information Center

Handa, Neera; Power, Clare

2005-01-01

Despite a growing body of evidence, the common causal factors of plagiarism among international students are still widely seen to be poor language skills or a lack of academic integrity on the part of the students. This research uses the experiences of a particular cohort of students to explore these assumptions. It investigates and compares the…

Quels outils pour l'analyse linguistique ou les prealables d'un enseignement de la grammaire? (What Tools for Linguistic Analysis or Preliminaries for Grammar Instruction?)

ERIC Educational Resources Information Center

Darot, Mireille

1983-01-01

The usefulness of classifications within and comparisons among languages as a means of discovering the commonalities of human language is discussed. Metalinguistics offers not only the potential for analyzing the specifics of each language, but also the tools for teaching across languages. (MSE)

Digital Storytelling: Putting Young Asylum Seekers at the Heart of the Story

ERIC Educational Resources Information Center

López-Bech, Laura; Zúñiga, Rodolfo

2017-01-01

As new stories from asylum seekers and refugees permeate the reality of European societies today, a whole new set of challenges and opportunities arise for building a common sense of belonging. Spaces for intercultural dialogue become crucial in connecting us all in a way that allows us to discover "the other" through our own process of…

Making Basic Composition Relevant.

ERIC Educational Resources Information Center

Tichenor, Stuart

The technical writing teacher discovers two things about his/her students: they do not like to write and they do not like to read. They are not in the class because they are motivated, but because they must be there as part of a technical or vocational degree. One of the most common complaints about the class is, "I don't need to know how to…

Prenatal exposure to ambient temperature variation increases the risk of common cold in children.

PubMed

Lu, Chan; Miao, Yufeng; Zeng, Ji; Jiang, Wei; Shen, Yong-Ming; Deng, Qihong

2018-06-15

Common cold is a frequent upper respiratory tract infection, but the role of ambient temperature in the infection is unclear. We investigated the role of prenatal exposure to diurnal temperature variation (DTV), the difference between the daily maximal and minimal temperatures, in the risk of common cold in children. We conducted a cohort study of 2598 preschool children in Changsha, China. Occurrence of common cold during the past year was surveyed using questionnaire. We then estimated each child's prenatal exposure to DTV during pregnancy. Multivariate logistic regression model was used to examine the association between occurrence of common cold and prenatal exposure to DTV in terms of odds ratios (OR) and 95% confidence interval (CI). About 45% children have common cold (≥3 times) during the past year. We found that common cold in children was associated with maternal DTV exposure during pregnancy, particularly during the first trimester with adjusted OR (95% CI) = 1.27 (1.10-1.46). Male and atopic children were more susceptible to the effect of DTV during pregnancy. The risk of common cold due to DTV is higher in children living in the suburban areas and the bigger houses and in those exposed to environmental tobacco smoke, mold/dampness, new furniture and redecoration. We observed that the risk of common cold in children has been increased in recent years due to increasing DTV. Common cold in children was associated with maternal exposure to temperature variation during pregnancy, suggesting that the risk of common cold may originate in pregnancy. Copyright © 2018 Elsevier Inc. All rights reserved.

Genomics of immune response to typhoid and cholera vaccines

PubMed Central

Majumder, Partha P.

2015-01-01

Considerable variation in antibody response (AR) was observed among recipients of an injectable typhoid vaccine and an oral cholera vaccine. We sought to find whether polymorphisms in genes of the immune system, both innate and adaptive, were associated with the observed variation in response. For both vaccines, we were able to discover and validate several polymorphisms that were significantly associated with immune response. For the typhoid vaccines, these polymorphisms were on genes that belonged to pathways of polysaccharide recognition, signal transduction, inhibition of T-cell proliferation, pro-inflammatory signalling and eventual production of antimicrobial peptides. For the cholera vaccine, the pathways included epithelial barrier integrity, intestinal homeostasis and leucocyte recruitment. Even though traditional wisdom indicates that both vaccines should act as T-cell-independent antigens, our findings reveal that the vaccines induce AR using different pathways. PMID:25964454

Detection of material property errors in handbooks and databases using artificial neural networks with hidden correlations

NASA Astrophysics Data System (ADS)

Zhang, Y. M.; Evans, J. R. G.; Yang, S. F.

2010-11-01

The authors have discovered a systematic, intelligent and potentially automatic method to detect errors in handbooks and stop their transmission using unrecognised relationships between materials properties. The scientific community relies on the veracity of scientific data in handbooks and databases, some of which have a long pedigree covering several decades. Although various outlier-detection procedures are employed to detect and, where appropriate, remove contaminated data, errors, which had not been discovered by established methods, were easily detected by our artificial neural network in tables of properties of the elements. We started using neural networks to discover unrecognised relationships between materials properties and quickly found that they were very good at finding inconsistencies in groups of data. They reveal variations from 10 to 900% in tables of property data for the elements and point out those that are most probably correct. Compared with the statistical method adopted by Ashby and co-workers [Proc. R. Soc. Lond. Ser. A 454 (1998) p. 1301, 1323], this method locates more inconsistencies and could be embedded in database software for automatic self-checking. We anticipate that our suggestion will be a starting point to deal with this basic problem that affects researchers in every field. The authors believe it may eventually moderate the current expectation that data field error rates will persist at between 1 and 5%.

Evaluation and Comparison of Methods for Measuring Ozone ...

EPA Pesticide Factsheets

Ambient evaluations of the various ozone and NO2 methods were conducted during field intensive studies as part of the NASA DISCOVER-AQ project conducted during July 2011 near Baltimore, MD; January – February 2013 in the San Juaquin valley, CA; September 2013 in Houston, TX; and July – August 2014 near Denver, CO. During field intensive studies, instruments were calibrated according to manufacturers’ operation manuals and in accordance with FRM requirements listed in 40 CFR 50. During the ambient evaluation campaigns, nightly automated zero and span checks were performed to monitor the validity of the calibration and control for drifts or variations in the span and/or zero response. Both the calibration gas concentrations and the nightly zero and span gas concentrations were delivered using a dynamic dilution calibration system (T700U/T701H, Teledyne API). The analyzers were housed within a temperature-controlled shelter during the sampling campaigns. A glass inlet with sampling height located approximately 5 m above ground level and a subsequent sampling manifold were shared by all instruments. Data generated by all analyzers were collected and logged using a field deployable data acquisition system (Envidas Ultimate). A summary of instruments used during DISCOVER-AQ deployment are listed in Table 1. Figure 1 shows a typical DISCOVER-AQ site (Houston 2013) where EPA (and others) instrumentation was deployed. Under the Clean Air Act, the U.S. EPA has estab

Variability in common synaptic input to motor neurons modulates both force steadiness and pegboard time in young and older adults.

PubMed

Feeney, Daniel F; Mani, Diba; Enoka, Roger M

2018-06-07

We investigated the associations between grooved pegboard times, force steadiness (coefficient of variation for force), and variability in an estimate of the common synaptic input to motor neurons innervating the wrist extensor muscles during steady contractions performed by young and older adults. The discharge times of motor units were derived from recordings obtained with high-density surface electrodes while participants performed steady isometric contractions at 10% and 20% of maximal voluntary contraction (MVC) force. The steady contractions were performed with a pinch grip and wrist extension, both independently (single action) and concurrently (double action). The variance in common synaptic input to motor neurons was estimated with a state-space model of the latent common input dynamics. There was a statistically significant association between the coefficient of variation for force during the steady contractions and the estimated variance in common synaptic input in young (r 2 = 0.31) and older (r 2 = 0.39) adults, but not between either the mean or the coefficient of variation for interspike interval of single motor units with the coefficient of variation for force. Moreover, the estimated variance in common synaptic input during the double-action task with the wrist extensors at the 20% target was significantly associated with grooved pegboard time (r 2 = 0.47) for older adults, but not young adults. These findings indicate that longer pegboard times of older adults were associated with worse force steadiness and greater fluctuations in the estimated common synaptic input to motor neurons during steady contractions. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

Shape variation in the least killifish: ecological associations of phenotypic variation and the effects of a common garden.

PubMed

Landy, J Alex; Travis, Joseph

2015-12-01

Studies of the adaptive significance of variation among conspecific populations often focus on a single ecological factor. However, habitats rarely differ in only a single ecological factor, creating a challenge for identifying the relative importance of the various ecological factors that might be maintaining local adaptation. Here we investigate the ecological factors associated with male body shape variation among nine populations of the poeciliid fish, Heterandria formosa, from three distinct habitats and combine those results with a laboratory study of three of those populations to assess the contributions of genetic and environmental influences to shape variation. Field-collected animals varied principally in three ways: the orientation of the gonopodium, the intromittent organ; the degree of body depth and streamlining; and the shape of the tail musculature. Fish collected in the spring season were larger and had a more anteriorly positioned gonopodium than fish collected in autumn. Fish collected from lotic springs were larger and more streamlined than those collected from lentic ponds or tidal marshes. Some of the variation in male shape among populations within habitats was associated with population-level variation in species richness, adult density, vegetative cover, predation risk, and female standard length. Population-level differences among males in body size, position of the gonopodium, and shape of the tail musculature were maintained among males reared in a common environment. In contrast, population variation in the degree of streamlining was eliminated when males were reared in a common environment. These results illustrate the complicated construction of multivariate phenotypic variation and suggest that different agents of selection have acted on different components of shape.

UNVEILING THE PHYSICS OF LOW-LUMINOSITY AGNs THROUGH X-RAY VARIABILITY: LINER VERSUS SEYFERT 2

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hernández-García, L.; Masegosa, J.; Márquez, I.

X-ray variability is very common in active galactic nuclei (AGNs), but these variations may not occur similarly in different families of AGNs. We aim to disentangle the structure of low-ionization nuclear emission-line regions (LINERs) compared to Seyfert 2s by the study of their spectral properties and X-ray variations. We assembled the X-ray spectral parameters and variability patterns, which were obtained from simultaneous spectral fittings. Major differences are observed in the X-ray luminosities and the Eddington ratios, which are higher in Seyfert 2s. Short-term X-ray variations were not detected, while long-term changes are common in LINERs and Seyfert 2s. Compton-thick sourcesmore » generally do not show variations, most probably because the AGN is not accesible in the 0.5–10 keV energy band. The changes are mostly related to variations in the nuclear continuum, but other patterns of variability show that variations in the absorbers and at soft energies can be present in a few cases. We conclude that the X-ray variations may occur similarly in LINERs and Seyfert 2s, i.e., they are related to the nuclear continuum, although they might have different accretion mechanisms. Variations at UV frequencies are detected in LINER nuclei but not in Seyfert 2s. This is suggestive of at least some LINERs having an unobstructed view of the inner disk where the UV emission might take place, with UV variations being common in them. This result might be compatible with the disappeareance of the torus and/or the broad-line region in at least some LINERs.« less

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

PubMed

Auer, Paul L; Nalls, Mike; Meschia, James F; Worrall, Bradford B; Longstreth, W T; Seshadri, Sudha; Kooperberg, Charles; Burger, Kathleen M; Carlson, Christopher S; Carty, Cara L; Chen, Wei-Min; Cupples, L Adrienne; DeStefano, Anita L; Fornage, Myriam; Hardy, John; Hsu, Li; Jackson, Rebecca D; Jarvik, Gail P; Kim, Daniel S; Lakshminarayan, Kamakshi; Lange, Leslie A; Manichaikul, Ani; Quinlan, Aaron R; Singleton, Andrew B; Thornton, Timothy A; Nickerson, Deborah A; Peters, Ulrike; Rich, Stephen S

2015-07-01

Stroke is the second leading cause of death and the third leading cause of years of life lost. Genetic factors contribute to stroke prevalence, and candidate gene and genome-wide association studies (GWAS) have identified variants associated with ischemic stroke risk. These variants often have small effects without obvious biological significance. Exome sequencing may discover predicted protein-altering variants with a potentially large effect on ischemic stroke risk. To investigate the contribution of rare and common genetic variants to ischemic stroke risk by targeting the protein-coding regions of the human genome. The National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP) analyzed approximately 6000 participants from numerous cohorts of European and African ancestry. For discovery, 365 cases of ischemic stroke (small-vessel and large-vessel subtypes) and 809 European ancestry controls were sequenced; for replication, 47 affected sibpairs concordant for stroke subtype and an African American case-control series were sequenced, with 1672 cases and 4509 European ancestry controls genotyped. The ESP's exome sequencing and genotyping started on January 1, 2010, and continued through June 30, 2012. Analyses were conducted on the full data set between July 12, 2012, and July 13, 2013. Discovery of new variants or genes contributing to ischemic stroke risk and subtype (primary analysis) and determination of support for protein-coding variants contributing to risk in previously published candidate genes (secondary analysis). We identified 2 novel genes associated with an increased risk of ischemic stroke: a protein-coding variant in PDE4DIP (rs1778155; odds ratio, 2.15; P = 2.63 × 10(-8)) with an intracellular signal transduction mechanism and in ACOT4 (rs35724886; odds ratio, 2.04; P = 1.24 × 10(-7)) with a fatty acid metabolism; confirmation of PDE4DIP was observed in affected sibpair families with large-vessel stroke subtype and in African Americans. Replication of protein-coding variants in candidate genes was observed for 2 previously reported GWAS associations: ZFHX3 (cardioembolic stroke) and ABCA1 (large-vessel stroke). Exome sequencing discovered 2 novel genes and mechanisms, PDE4DIP and ACOT4, associated with increased risk for ischemic stroke. In addition, ZFHX3 and ABCA1 were discovered to have protein-coding variants associated with ischemic stroke. These results suggest that genetic variation in novel pathways contributes to ischemic stroke risk and serves as a target for prediction, prevention, and therapy.

Using Clinical Data, Hypothesis Generation Tools and PubMed Trends to Discover the Association between Diabetic Retinopathy and Antihypertensive Drugs

DOE Office of Scientific and Technical Information (OSTI.GOV)

Senter, Katherine G; Sukumar, Sreenivas R; Patton, Robert M

Diabetic retinopathy (DR) is a leading cause of blindness and common complication of diabetes. Many diabetic patients take antihypertensive drugs to prevent cardiovascular problems, but these drugs may have unintended consequences on eyesight. Six common classes of antihypertensive drug are angiotensin converting enzyme (ACE) inhibitors, alpha blockers, angiotensin receptor blockers (ARBs), -blockers, calcium channel blockers, and diuretics. Analysis of medical history data might indicate which of these drugs provide safe blood pressure control, and a literature review is often used to guide such analyses. Beyond manual reading of relevant publications, we sought to identify quantitative trends in literature from themore » biomedical database PubMed to compare with quantitative trends in the clinical data. By recording and analyzing PubMed search results, we found wide variation in the prevalence of each antihypertensive drug in DR literature. Drug classes developed more recently such as ACE inhibitors and ARBs were most prevalent. We also identified instances of change-over-time in publication patterns. We then compared these literature trends to a dataset of 500 diabetic patients from the UT Hamilton Eye Institute. Data for each patient included class of antihypertensive drug, presence and severity of DR. Graphical comparison revealed that older drug classes such as diuretics, calcium channel blockers, and -blockers were much more prevalent in the clinical data than in the DR and antihypertensive literature. Finally, quantitative analysis of the dataset revealed that patients taking -blockers were statistically more likely to have DR than patients taking other medications, controlling for presence of hypertension and year of diabetes onset. This finding was concerning given the prevalence of -blockers in the clinical data. We determined that clinical use of -blockers should be minimized in diabetic patients to prevent retinal damage.« less

Evolving hard problems: Generating human genetics datasets with a complex etiology.

PubMed

Himmelstein, Daniel S; Greene, Casey S; Moore, Jason H

2011-07-07

A goal of human genetics is to discover genetic factors that influence individuals' susceptibility to common diseases. Most common diseases are thought to result from the joint failure of two or more interacting components instead of single component failures. This greatly complicates both the task of selecting informative genetic variants and the task of modeling interactions between them. We and others have previously developed algorithms to detect and model the relationships between these genetic factors and disease. Previously these methods have been evaluated with datasets simulated according to pre-defined genetic models. Here we develop and evaluate a model free evolution strategy to generate datasets which display a complex relationship between individual genotype and disease susceptibility. We show that this model free approach is capable of generating a diverse array of datasets with distinct gene-disease relationships for an arbitrary interaction order and sample size. We specifically generate eight-hundred Pareto fronts; one for each independent run of our algorithm. In each run the predictiveness of single genetic variation and pairs of genetic variants have been minimized, while the predictiveness of third, fourth, or fifth-order combinations is maximized. Two hundred runs of the algorithm are further dedicated to creating datasets with predictive four or five order interactions and minimized lower-level effects. This method and the resulting datasets will allow the capabilities of novel methods to be tested without pre-specified genetic models. This allows researchers to evaluate which methods will succeed on human genetics problems where the model is not known in advance. We further make freely available to the community the entire Pareto-optimal front of datasets from each run so that novel methods may be rigorously evaluated. These 76,600 datasets are available from http://discovery.dartmouth.edu/model_free_data/.

Genome-wide Association Study of Obsessive-Compulsive Disorder

PubMed Central

Stewart, S Evelyn; Yu, Dongmei; Scharf, Jeremiah M; Neale, Benjamin M; Fagerness, Jesen A; Mathews, Carol A; Arnold, Paul D; Evans, Patrick D; Gamazon, Eric R; Osiecki, Lisa; McGrath, Lauren; Haddad, Stephen; Crane, Jacquelyn; Hezel, Dianne; Illman, Cornelia; Mayerfeld, Catherine; Konkashbaev, Anuar; Liu, Chunyu; Pluzhnikov, Anna; Tikhomirov, Anna; Edlund, Christopher K; Rauch, Scott L; Moessner, Rainald; Falkai, Peter; Maier, Wolfgang; Ruhrmann, Stephan; Grabe, Hans-Jörgen; Lennertz, Leonard; Wagner, Michael; Bellodi, Laura; Cavallini, Maria Cristina; Richter, Margaret A; Cook, Edwin H; Kennedy, James L; Rosenberg, David; Stein, Dan J; Hemmings, Sian MJ; Lochner, Christine; Azzam, Amin; Chavira, Denise A; Fournier, Eduardo; Garrido, Helena; Sheppard, Brooke; Umaña, Paul; Murphy, Dennis L; Wendland, Jens R; Veenstra-VanderWeele, Jeremy; Denys, Damiaan; Blom, Rianne; Deforce, Dieter; Van Nieuwerburgh, Filip; Westenberg, Herman GM; Walitza, Susanne; Egberts, Karin; Renner, Tobias; Miguel, Euripedes Constantino; Cappi, Carolina; Hounie, Ana G; Conceição do Rosário, Maria; Sampaio, Aline S; Vallada, Homero; Nicolini, Humberto; Lanzagorta, Nuria; Camarena, Beatriz; Delorme, Richard; Leboyer, Marion; Pato, Carlos N; Pato, Michele T; Voyiaziakis, Emanuel; Heutink, Peter; Cath, Danielle C; Posthuma, Danielle; Smit, Jan H; Samuels, Jack; Bienvenu, O Joseph; Cullen, Bernadette; Fyer, Abby J; Grados, Marco A; Greenberg, Benjamin D; McCracken, James T; Riddle, Mark A; Wang, Ying; Coric, Vladimir; Leckman, James F; Bloch, Michael; Pittenger, Christopher; Eapen, Valsamma; Black, Donald W; Ophoff, Roel A; Strengman, Eric; Cusi, Daniele; Turiel, Maurizio; Frau, Francesca; Macciardi, Fabio; Gibbs, J Raphael; Cookson, Mark R; Singleton, Andrew; Hardy, John; Crenshaw, Andrew T; Parkin, Melissa A; Mirel, Daniel B; Conti, David V; Purcell, Shaun; Nestadt, Gerald; Hanna, Gregory L; Jenike, Michael A; Knowles, James A; Cox, Nancy; Pauls, David L

2014-01-01

Obsessive-compulsive disorder (OCD) is a common, debilitating neuropsychiatric illness with complex genetic etiology. The International OCD Foundation Genetics Collaborative (IOCDF-GC) is a multi-national collaboration established to discover the genetic variation predisposing to OCD. A set of individuals affected with DSM-IV OCD, a subset of their parents, and unselected controls, were genotyped with several different Illumina SNP microarrays. After extensive data cleaning, 1,465 cases, 5,557 ancestry-matched controls and 400 complete trios remained, with a common set of 469,410 autosomal and 9,657 X-chromosome SNPs. Ancestry-stratified case-control association analyses were conducted for three genetically-defined subpopulations and combined in two meta-analyses, with and without the trio-based analysis. In the case-control analysis, the lowest two p-values were located within DLGAP1 (p=2.49×10-6 and p=3.44×10-6), a member of the neuronal postsynaptic density complex. In the trio analysis, rs6131295, near BTBD3, exceeded the genome-wide significance threshold with a p-value=3.84 × 10-8. However, when trios were meta-analyzed with the combined case-control samples, the p-value for this variant was 3.62×10-5, losing genome-wide significance. Although no SNPs were identified to be associated with OCD at a genome-wide significant level in the combined trio-case-control sample, a significant enrichment of methylation-QTLs (p<0.001) and frontal lobe eQTLs (p=0.001) was observed within the top-ranked SNPs (p<0.01) from the trio-case-control analysis, suggesting these top signals may have a broad role in gene expression in the brain, and possibly in the etiology of OCD. PMID:22889921

Native-likeness in second language lexical categorization reflects individual language history and linguistic community norms.

PubMed

Zinszer, Benjamin D; Malt, Barbara C; Ameel, Eef; Li, Ping

2014-01-01

SECOND LANGUAGE LEARNERS FACE A DUAL CHALLENGE IN VOCABULARY LEARNING: First, they must learn new names for the 100s of common objects that they encounter every day. Second, after some time, they discover that these names do not generalize according to the same rules used in their first language. Lexical categories frequently differ between languages (Malt et al., 1999), and successful language learning requires that bilinguals learn not just new words but new patterns for labeling objects. In the present study, Chinese learners of English with varying language histories and resident in two different language settings (Beijing, China and State College, PA, USA) named 67 photographs of common serving dishes (e.g., cups, plates, and bowls) in both Chinese and English. Participants' response patterns were quantified in terms of similarity to the responses of functionally monolingual native speakers of Chinese and English and showed the cross-language convergence previously observed in simultaneous bilinguals (Ameel et al., 2005). For English, bilinguals' names for each individual stimulus were also compared to the dominant name generated by the native speakers for the object. Using two statistical models, we disentangle the effects of several highly interactive variables from bilinguals' language histories and the naming norms of the native speaker community to predict inter-personal and inter-item variation in L2 (English) native-likeness. We find only a modest age of earliest exposure effect on L2 category native-likeness, but importantly, we find that classroom instruction in L2 negatively impacts L2 category native-likeness, even after significant immersion experience. We also identify a significant role of both L1 and L2 norms in bilinguals' L2 picture naming responses.

Native-likeness in second language lexical categorization reflects individual language history and linguistic community norms

PubMed Central

Zinszer, Benjamin D.; Malt, Barbara C.; Ameel, Eef; Li, Ping

2014-01-01

Second language learners face a dual challenge in vocabulary learning: First, they must learn new names for the 100s of common objects that they encounter every day. Second, after some time, they discover that these names do not generalize according to the same rules used in their first language. Lexical categories frequently differ between languages (Malt et al., 1999), and successful language learning requires that bilinguals learn not just new words but new patterns for labeling objects. In the present study, Chinese learners of English with varying language histories and resident in two different language settings (Beijing, China and State College, PA, USA) named 67 photographs of common serving dishes (e.g., cups, plates, and bowls) in both Chinese and English. Participants’ response patterns were quantified in terms of similarity to the responses of functionally monolingual native speakers of Chinese and English and showed the cross-language convergence previously observed in simultaneous bilinguals (Ameel et al., 2005). For English, bilinguals’ names for each individual stimulus were also compared to the dominant name generated by the native speakers for the object. Using two statistical models, we disentangle the effects of several highly interactive variables from bilinguals’ language histories and the naming norms of the native speaker community to predict inter-personal and inter-item variation in L2 (English) native-likeness. We find only a modest age of earliest exposure effect on L2 category native-likeness, but importantly, we find that classroom instruction in L2 negatively impacts L2 category native-likeness, even after significant immersion experience. We also identify a significant role of both L1 and L2 norms in bilinguals’ L2 picture naming responses. PMID:25386149

Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin.

PubMed

Bolton, Jennifer L; Hayward, Caroline; Direk, Nese; Lewis, John G; Hammond, Geoffrey L; Hill, Lesley A; Anderson, Anna; Huffman, Jennifer; Wilson, James F; Campbell, Harry; Rudan, Igor; Wright, Alan; Hastie, Nicholas; Wild, Sarah H; Velders, Fleur P; Hofman, Albert; Uitterlinden, Andre G; Lahti, Jari; Räikkönen, Katri; Kajantie, Eero; Widen, Elisabeth; Palotie, Aarno; Eriksson, Johan G; Kaakinen, Marika; Järvelin, Marjo-Riitta; Timpson, Nicholas J; Davey Smith, George; Ring, Susan M; Evans, David M; St Pourcain, Beate; Tanaka, Toshiko; Milaneschi, Yuri; Bandinelli, Stefania; Ferrucci, Luigi; van der Harst, Pim; Rosmalen, Judith G M; Bakker, Stephen J L; Verweij, Niek; Dullaart, Robin P F; Mahajan, Anubha; Lindgren, Cecilia M; Morris, Andrew; Lind, Lars; Ingelsson, Erik; Anderson, Laura N; Pennell, Craig E; Lye, Stephen J; Matthews, Stephen G; Eriksson, Joel; Mellstrom, Dan; Ohlsson, Claes; Price, Jackie F; Strachan, Mark W J; Reynolds, Rebecca M; Tiemeier, Henning; Walker, Brian R

2014-07-01

Variation in plasma levels of cortisol, an essential hormone in the stress response, is associated in population-based studies with cardio-metabolic, inflammatory and neuro-cognitive traits and diseases. Heritability of plasma cortisol is estimated at 30-60% but no common genetic contribution has been identified. The CORtisol NETwork (CORNET) consortium undertook genome wide association meta-analysis for plasma cortisol in 12,597 Caucasian participants, replicated in 2,795 participants. The results indicate that <1% of variance in plasma cortisol is accounted for by genetic variation in a single region of chromosome 14. This locus spans SERPINA6, encoding corticosteroid binding globulin (CBG, the major cortisol-binding protein in plasma), and SERPINA1, encoding α1-antitrypsin (which inhibits cleavage of the reactive centre loop that releases cortisol from CBG). Three partially independent signals were identified within the region, represented by common SNPs; detailed biochemical investigation in a nested sub-cohort showed all these SNPs were associated with variation in total cortisol binding activity in plasma, but some variants influenced total CBG concentrations while the top hit (rs12589136) influenced the immunoreactivity of the reactive centre loop of CBG. Exome chip and 1000 Genomes imputation analysis of this locus in the CROATIA-Korcula cohort identified missense mutations in SERPINA6 and SERPINA1 that did not account for the effects of common variants. These findings reveal a novel common genetic source of variation in binding of cortisol by CBG, and reinforce the key role of CBG in determining plasma cortisol levels. In turn this genetic variation may contribute to cortisol-associated degenerative diseases.

Genome Wide Association Identifies Common Variants at the SERPINA6/SERPINA1 Locus Influencing Plasma Cortisol and Corticosteroid Binding Globulin

PubMed Central

Direk, Nese; Lewis, John G.; Hammond, Geoffrey L.; Hill, Lesley A.; Anderson, Anna; Huffman, Jennifer; Wilson, James F.; Campbell, Harry; Rudan, Igor; Wright, Alan; Hastie, Nicholas; Wild, Sarah H.; Velders, Fleur P.; Hofman, Albert; Uitterlinden, Andre G.; Lahti, Jari; Räikkönen, Katri; Kajantie, Eero; Widen, Elisabeth; Palotie, Aarno; Eriksson, Johan G.; Kaakinen, Marika; Järvelin, Marjo-Riitta; Timpson, Nicholas J.; Davey Smith, George; Ring, Susan M.; Evans, David M.; St Pourcain, Beate; Tanaka, Toshiko; Milaneschi, Yuri; Bandinelli, Stefania; Ferrucci, Luigi; van der Harst, Pim; Rosmalen, Judith G. M.; Bakker, Stephen J. L.; Verweij, Niek; Dullaart, Robin P. F.; Mahajan, Anubha; Lindgren, Cecilia M.; Morris, Andrew; Lind, Lars; Ingelsson, Erik; Anderson, Laura N.; Pennell, Craig E.; Lye, Stephen J.; Matthews, Stephen G.; Eriksson, Joel; Mellstrom, Dan; Ohlsson, Claes; Price, Jackie F.; Strachan, Mark W. J.; Reynolds, Rebecca M.; Tiemeier, Henning; Walker, Brian R.

2014-01-01

Variation in plasma levels of cortisol, an essential hormone in the stress response, is associated in population-based studies with cardio-metabolic, inflammatory and neuro-cognitive traits and diseases. Heritability of plasma cortisol is estimated at 30–60% but no common genetic contribution has been identified. The CORtisol NETwork (CORNET) consortium undertook genome wide association meta-analysis for plasma cortisol in 12,597 Caucasian participants, replicated in 2,795 participants. The results indicate that <1% of variance in plasma cortisol is accounted for by genetic variation in a single region of chromosome 14. This locus spans SERPINA6, encoding corticosteroid binding globulin (CBG, the major cortisol-binding protein in plasma), and SERPINA1, encoding α1-antitrypsin (which inhibits cleavage of the reactive centre loop that releases cortisol from CBG). Three partially independent signals were identified within the region, represented by common SNPs; detailed biochemical investigation in a nested sub-cohort showed all these SNPs were associated with variation in total cortisol binding activity in plasma, but some variants influenced total CBG concentrations while the top hit (rs12589136) influenced the immunoreactivity of the reactive centre loop of CBG. Exome chip and 1000 Genomes imputation analysis of this locus in the CROATIA-Korcula cohort identified missense mutations in SERPINA6 and SERPINA1 that did not account for the effects of common variants. These findings reveal a novel common genetic source of variation in binding of cortisol by CBG, and reinforce the key role of CBG in determining plasma cortisol levels. In turn this genetic variation may contribute to cortisol-associated degenerative diseases. PMID:25010111

Comparison of Surface and Column Variations of CO2 Over Urban Areas for Future Active Remote CO2 Sensors

NASA Technical Reports Server (NTRS)

Choi, Yonghoon; Yang, Melissa; Kooi, Susan; Browell, Edward

2015-01-01

High resolution in-situ CO2 measurements were recorded onboard the NASA P-3B during the DISCOVER-AQ (Deriving Information on Surface Conditions from Column and Vertically Resolved Observations Relevant to Air Quality) Field Campaign, to investigate the ability of space-based observations to accurately assess near surface conditions related to air quality. This campaign includes, Washington DC/Baltimore, MD (July 2011), San Joaquin Valley, CA (January - February 2013), Houston, TX (September 2013), and Denver, CO (July-August 2014). Each of these campaigns consisted of missed approaches and approximately two hundred vertical soundings of CO2 within the lower troposphere (surface to about 5 km). In this study, surface (0 - 1 km) and column-averaged (0 - 3.5 km) CO2 mixing ratio values from the vertical soundings in the four geographically different urban areas are used to investigate the temporal and spatial variability of CO2 within the different urban atmospheric emission environments. Tracers such as CO, CH2O, NOx, and NMHCs are used to identify the source of CO2 variations in the urban sites. Additionally, we apply nominal CO2 column weighting functions for potential future active remote CO2 sensors operating in the 1.57-microns and 2.05-microns measurement regions to convert the in situ CO2 vertical mixing ratio profiles to variations in CO2 column optical depths, which is what the active remote sensors actually measure. Using statistics calculated from the optical depths at each urban site measured during the DISCOVER-AQ field campaign and for each nominal weighting function, we investigate the natural variability of CO2 columns in the lower troposphere; relate the CO2 column variability to the urban surface emissions; and show the measurement requirements for the future ASCENDS (Active Sensing of CO2 Emissions over Nights, Days, and Seasons) in the continental U.S. urban areas.

What is bred in the bone: Ecomorphological associations of pelvic girdle form in greater Antillean Anolis lizards.

PubMed

Tinius, Alexander; Russell, Anthony P; Jamniczky, Heather A; Anderson, Jason S

2018-06-11

Ecological niche partitioning of Anolis lizards of the Greater Antillean islands has been the focus of many comparative studies, and much is known about external morphological convergence that characterizes anole ecomorphs. Their internal anatomy, however, has rarely been explored in an ecomorphological context, and it remains unknown to what degree skeletal morphology tracks the diversity and ecological adaptation of these lizards. Herein, we employ CT scanning techniques to visualise the skeleton of the pelvic girdle in situ, and 3D geometric morphometrics to compare the form of the ilium, ischium, and pubis within and between ecomorphs. We examine 26 species of anoles representing four ecomorphs (trunk-ground, trunk-crown, crown-giant, twig) from three islands (Jamaica, Hispaniola, and Puerto Rico). The subtle variations in pelvic girdle morphology discovered are directly associable with all three parameters that we set out to focus on: phylogenetic relationship, specimen size, and assigned ecomorph category. Morphometric variation that correlates with size and/or phylogenetic signal varies between species and cannot be eliminated from the data set without markedly reducing its overall variability. The discovered patterns of skeletal variation are consistent with the demands of locomotor mechanics pertinent to the structural configuration of the microhabitat of three of the four ecomorphs, with the fourth having no discernible distinctive features. This manifests itself chiefly in the relative anteroposterior extent and anteroventral inclination of the ilium and pubis, which differ between ecomorphs and are postulated to reflect optimization of the direction of muscle vectors of the femoral protractors and retractors. Our investigation of the form of the pelvic girdle of anoles allows us to generalize our findings to entire ecomorph categories within a broad phylogenetic and biogeographic context. Differences in the form and configuration of the postcranial skeleton are directly related to ecological patterns. © 2018 Wiley Periodicals, Inc.

Direct sequencing and comprehensive screening of genetic polymorphisms on CYP2 family genes (CYP2A6, CYP2B6, CYP2C8, and CYP2E1) in five ethnic populations.

PubMed

Kim, Jeong-Hyun; Cheong, Hyun Sub; Park, Byung Lae; Kim, Lyoung Hyo; Shin, Hee Jung; Na, Han Sung; Chung, Myeon Woo; Shin, Hyoung Doo

2015-01-01

Recently, CYP2A6, CYP2B6, CYP2C8, and CYP2E1 have been reported to play a role in the metabolic effect of pharmacological and carcinogenic compounds. Moreover, genetic variations of drug metabolism genes have been implicated in the interindividual variation in drug disposition and pharmacological response. To define the distribution of single nucleotide polymorphisms (SNPs) in these four CYP2 family genes and to discover novel SNPs across ethnic groups, 288 DNAs composed of 48 African-Americans, 48 European-Americans, 48 Japanese, 48 Han Chinese, and 96 Koreans were resequenced. A total of 143 SNPs, 26 in CYP2A6, 45 in CYP2B6, 29 in CYP2C8, and 43 in CYP2E1, were identified, including 13 novel variants. Notably, two SNPs in the regulatory regions, a promoter SNP rs2054675 and a nonsynonymous rs3745274 (p.172Q>H) in CYP2B6, showed significantly different minor allele frequencies (MAFs) among ethnic groups (minimum P = 4.30 × 10(-12)). In addition, rs2031920 in the promoter region of CYP2E1 showed a wide range of MAF between different ethnic groups, and even among other various ethnic groups based on public reports. Among 13 newly discovered SNPs in this study, 5 SNPs were estimated to have potential functions in further in silico analyses. Some differences in genetic variations and haplotypes of CYP2A6, CYP2B6, CYP2C8, and CYP2E1 were observed among populations. Our findings could be useful in further researches, such as genetic associations with drug responses.

Tectonic tremor activity associated with teleseismic and nearby earthquakes

NASA Astrophysics Data System (ADS)

Chao, K.; Obara, K.; Peng, Z.; Pu, H. C.; Frank, W.; Prieto, G. A.; Wech, A.; Hsu, Y. J.; Yu, C.; Van der Lee, S.; Apley, D. W.

2016-12-01

Tectonic tremor is an extremely stress-sensitive seismic phenomenon located in the brittle-ductile transition section of a fault. To better understand the stress interaction between tremor and earthquake, we conduct the following studies: (1) search for triggered tremor globally, (2) examine ambient tremor activities associated with distant earthquakes, and (3) quantify the temporal variation of ambient tremor activity before and after nearby earthquakes. First, we developed a Matlab toolbox to enhance the searching of triggered tremor globally. We have discovered new tremor sources in the inland faults in Kyushu, Kanto, and Hokkaido in Japan, southern Chile, Ecuador, and central Colombia in South America, and in South Italy. Our findings suggest that tremor is more common than previously believed and indicate the potential existence of ambient tremor in the triggered tremor active regions. Second, we adapt the statistical analysis to examine whether the long-term ambient tremor rate may affect by the dynamic stress of teleseismic earthquakes. We analyzed the data in Nankai, Hokkaido, Cascadia, and Taiwan. Our preliminary results did not show an apparent increase of ambient tremor rate after the passing of surface waves. Third, we quantify temporal changes in ambient tremor activity before and after the occurrence of local earthquakes under the southern Central Range of Taiwan with magnitudes of >=5.5 from 2004 to 2016. For a particular case, we found a temporal variation of tremor rate before and after the 2010/03/04 Mw6.3 earthquake, located about 20 km away from the active tremor source. The long-term increase in the tremor rate after the earthquake could have been caused by an increase in static stress following the mainshock. For comparison, clear evidence from seismic and GPS observations indicate a short-term increase in the tremor rate a few weeks before the mainshock. The increase in the tremor rate before the mainshock could correlate with stress changes in the earthquake rupture zone. Our study provides direct observations to imply that the stress-sensitive tectonic tremor may reflect stress variation during the nucleation process of a nearby earthquake.

Performance related factors are the main determinants of the von Willebrand factor response to exhaustive physical exercise.

PubMed

van Loon, Janine E; Sonneveld, Michelle A H; Praet, Stephan F E; de Maat, Moniek P M; Leebeek, Frank W G

2014-01-01

Physical stress triggers the endothelium to release von Willebrand Factor (VWF) from the Weibel Palade bodies. Since VWF is a risk factor for arterial thrombosis, it is of great interest to discover determinants of VWF response to physical stress. We aimed to determine the main mediators of the VWF increase by exhaustive physical exercise. 105 healthy individuals (18-35 years) were included in this study. Each participant performed an incremental exhaustive exercise test on a cycle ergometer. Respiratory gas exchange measurements were obtained while cardiac function was continuously monitored. Blood was collected at baseline and directly after exhaustion. VWF antigen (VWF:Ag) levels, VWF collagen binding (VWF:CB) levels, ADAMTS13 activity and common variations in Syntaxin Binding Protein-5 (STXBP5, rs1039084 and rs9399599), Syntaxin-2 (STX2, rs7978987) and VWF (promoter, rs7965413) were determined. The median VWF:Ag level at baseline was 0.94 IU/mL [IQR 0.8-1.1] and increased with 47% [IQR 25-73] after exhaustive exercise to a median maximum VWF:Ag of 1.38 IU/mL [IQR 1.1-1.8] (p<0.0001). VWF:CB levels and ADAMTS13 activity both also increased after exhaustive exercise (median increase 43% and 12%, both p<0.0001). The strongest determinants of the VWF:Ag level increase are performance related (p<0.0001). We observed a gender difference in VWF:Ag response to exercise (females 1.2 IU/mL; males 1.7 IU/mL, p = 0.001), which was associated by a difference in performance. Genetic variations in STXBP5, STX2 and the VWF promoter were not associated with VWF:Ag levels at baseline nor with the VWF:Ag increase. VWF:Ag levels strongly increase upon exhaustive exercise and this increase is strongly determined by physical fitness level and the intensity of the exercise, while there is no clear effect of genetic variation in STXBP5, STX2 and the VWF promoter.

Field-Induced-Gap Infrared Detectors

NASA Technical Reports Server (NTRS)

Elliott, C. Thomas

1990-01-01

Semimetals become semiconductors under applied magnetic fields. New detectors require less cooling equipment because they operate at temperatures higher than liquid-helium temperatures required by extrinsic-semiconductor detectors. Magnetic fields for detectors provided by electromagnets based on recently-discovered high-transition-temperature superconducting materials. Detector material has to be semiconductor, in which photon absorbed by exciting electron/hole pair across gap Eg of forbidden energies between valence and conduction energy bands. Magnetic- and compositional-tuning effects combined to obtain two-absorber detector having narrow passband. By variation of applied magnetic field, passband swept through spectrum of interest.

Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes.

PubMed

Gueorguiev, Maria; Wiltshire, Steven; Garcia, Edwin A; Mein, Charles; Lecoeur, Cecile; Kristen, Brigitte; Allotey, Rebecca; Hattersley, Andrew T; Walker, Mark; O'rahilly, Stephen; Froguel, Philippe; Grossman, Ashley B; McCarthy, Mark I; Hitman, Graham A; Korbonits, Márta

2007-06-01

Recently, a quantitative trait locus for stature was reported on chromosome 3p26 in patients with type 2 diabetes. Given that ghrelin is a peptide involved in GH release and located on 3p26, we hypothesized that variation within its gene (GHRL) may be responsible for the quantitative trait locus on 3p26. The evidence for linkage around GHRL was refined with the genotyping of an additional four microsatellites (D3S4545, D3S1537, D3S1597, and D3S3611), giving a total of 27 markers, followed by multipoint variance components linkage analysis. Probands from the linkage families were typed for five common single nucleotide polymorphisms (SNPs) within GHRL and tested for association with adult stature using haplotype trend regression. The maximum multipoint evidence for linkage between adult stature and the 27 microsatellites yielded an LOD score of 2.58 (P = 0.0003) between D3S1297 and D3S1304. Five common (frequency of > or =5%) SNPs were typed in the probands [two promoter SNPs (rs27647 and rs26802), two exonic (rs696217 and rs4684677), and one intronic (rs35683)] capturing 80% of the total common variation in GHRL. No association was found between any SNP (or haplotypes thereof) and adult stature. Common genetic variation within GHRL is not responsible for variation in adult stature in this population.

Salt-Stress Response Mechanisms Using de Novo Transcriptome Sequencing of Salt-Tolerant and Sensitive Corchorus spp. Genotypes

PubMed Central

Yang, Zemao; Lu, Ruike; Dai, Zhigang; Yan, An; Tang, Qing; Cheng, Chaohua; Xu, Ying; Yang, Wenting; Su, Jianguang

2017-01-01

High salinity is a major environmental stressor for crops. To understand the regulatory mechanisms underlying salt tolerance, we conducted a comparative transcriptome analysis between salt-tolerant and salt-sensitive jute (Corchorus spp.) genotypes in leaf and root tissues under salt stress and control conditions. In total, 68,961 unigenes were identified. Additionally, 11,100 unigenes (including 385 transcription factors (TFs)) exhibited significant differential expression in salt-tolerant or salt-sensitive genotypes. Numerous common and unique differentially expressed unigenes (DEGs) between the two genotypes were discovered. Fewer DEGs were observed in salt-tolerant jute genotypes whether in root or leaf tissues. These DEGs were involved in various pathways, such as ABA signaling, amino acid metabolism, etc. Among the enriched pathways, plant hormone signal transduction (ko04075) and cysteine/methionine metabolism (ko00270) were the most notable. Eight common DEGs across both tissues and genotypes with similar expression profiles were part of the PYL-ABA-PP2C (pyrabactin resistant-like/regulatory components of ABA receptors-abscisic acid-protein phosphatase 2C). The methionine metabolism pathway was only enriched in salt-tolerant jute root tissue. Twenty-three DEGs were involved in methionine metabolism. Overall, numerous common and unique salt-stress response DEGs and pathways between salt-tolerant and salt-sensitive jute have been discovered, which will provide valuable information regarding salt-stress response mechanisms and help improve salt-resistance molecular breeding in jute. PMID:28927022

Fine Mapping of Ur-3, a Historically Important Rust Resistance Locus in Common Bean

PubMed Central

Hurtado-Gonzales, Oscar P.; Valentini, Giseli; Gilio, Thiago A. S.; Martins, Alexandre M.; Song, Qijian; Pastor-Corrales, Marcial A.

2016-01-01

Bean rust, caused by Uromyces appendiculatus, is a devastating disease of common bean (Phaseolus vulgaris) in the Americas and Africa. The historically important Ur-3 gene confers resistance to many races of the highly variable bean rust pathogen that overcome other rust resistance genes. Existing molecular markers tagging Ur-3 for use in marker-assisted selection produce false results. Here, we describe the fine mapping of the Ur-3 locus for the development of highly accurate markers linked to Ur-3. An F2 population from the cross Pinto 114 (susceptible) × Aurora (resistant with Ur-3) was evaluated for its reaction to four different races of U. appendiculatus. A bulked segregant analysis using the SNP chip BARCBEAN6K_3 placed the approximate location of Ur-3 in the lower arm of chromosome Pv11. Specific SSR and SNP markers and haplotype analysis of 18 sequenced bean varieties positioned Ur-3 in a 46.5 kb genomic region from 46.96 to 47.01 Mb on Pv11. We discovered in this region the SS68 KASP marker that was tightly linked to Ur-3. Validation of SS68 on a panel of 130 diverse common bean cultivars containing all known rust resistance genes revealed that SS68 was highly accurate and produced no false results. The SS68 marker will be of great value in pyramiding Ur-3 with other rust resistance genes. It will also significantly reduce time and labor associated with the current phenotypic detection of Ur-3. This is the first utilization of fine mapping to discover markers linked to rust resistance in common bean. PMID:28031244

Fine Mapping of Ur-3, a Historically Important Rust Resistance Locus in Common Bean.

PubMed

Hurtado-Gonzales, Oscar P; Valentini, Giseli; Gilio, Thiago A S; Martins, Alexandre M; Song, Qijian; Pastor-Corrales, Marcial A

2017-02-09

Bean rust, caused by Uromyces appendiculatus , is a devastating disease of common bean ( Phaseolus vulgaris ) in the Americas and Africa. The historically important Ur-3 gene confers resistance to many races of the highly variable bean rust pathogen that overcome other rust resistance genes. Existing molecular markers tagging Ur-3 for use in marker-assisted selection produce false results. Here, we describe the fine mapping of the Ur-3 locus for the development of highly accurate markers linked to Ur-3 An F 2 population from the cross Pinto 114 (susceptible) × Aurora (resistant with Ur-3 ) was evaluated for its reaction to four different races of U. appendiculatus A bulked segregant analysis using the SNP chip BARCBEAN6K_3 placed the approximate location of Ur-3 in the lower arm of chromosome Pv11. Specific SSR and SNP markers and haplotype analysis of 18 sequenced bean varieties positioned Ur-3 in a 46.5 kb genomic region from 46.96 to 47.01 Mb on Pv11. We discovered in this region the SS68 KASP marker that was tightly linked to Ur-3 Validation of SS68 on a panel of 130 diverse common bean cultivars containing all known rust resistance genes revealed that SS68 was highly accurate and produced no false results. The SS68 marker will be of great value in pyramiding Ur-3 with other rust resistance genes. It will also significantly reduce time and labor associated with the current phenotypic detection of Ur-3 This is the first utilization of fine mapping to discover markers linked to rust resistance in common bean. Copyright © 2017 Hurtado-Gonzales et al.

A high-resolution cattle CNV map by population-scale genome sequencing

USDA-ARS?s Scientific Manuscript database

Copy Number Variations (CNVs) are common genomic structural variations that have been linked to human diseases and phenotypic traits. CNVs represent an important type of genetic variation among cattle breeds and even individual animals; however, only low-resolution maps of cattle CNVs currently exis...

Structural and functional impacts of copy number variations on the cattle genome

USDA-ARS?s Scientific Manuscript database

Although there have been significant advances in resolving the pattern and nature of single nucleotide polymorphisms (SNPs), similar realizations for larger, more complex forms of genetic variation have just emerged. Several recent publications reveal that copy number variations (CNVs) are common an...

Dissection of complex adult traits in a mouse synthetic population.

PubMed

Burke, David T; Kozloff, Kenneth M; Chen, Shu; West, Joshua L; Wilkowski, Jodi M; Goldstein, Steven A; Miller, Richard A; Galecki, Andrzej T

2012-08-01

Finding the causative genetic variations that underlie complex adult traits is a significant experimental challenge. The unbiased search strategy of genome-wide association (GWAS) has been used extensively in recent human population studies. These efforts, however, typically find only a minor fraction of the genetic loci that are predicted to affect variation. As an experimental model for the analysis of adult polygenic traits, we measured a mouse population for multiple phenotypes and conducted a genome-wide search for effector loci. Complex adult phenotypes, related to body size and bone structure, were measured as component phenotypes, and each subphenotype was associated with a genomic spectrum of candidate effector loci. The strategy successfully detected several loci for the phenotypes, at genome-wide significance, using a single, modest-sized population (N = 505). The effector loci each explain 2%-10% of the measured trait variation and, taken together, the loci can account for over 25% of a trait's total population variation. A replicate population (N = 378) was used to confirm initially observed loci for one trait (femur length), and, when the two groups were merged, the combined population demonstrated increased power to detect loci. In contrast to human population studies, our mouse genome-wide searches find loci that individually explain a larger fraction of the observed variation. Also, the additive effects of our detected mouse loci more closely match the predicted genetic component of variation. The genetic loci discovered are logical candidates for components of the genetic networks having evolutionary conservation with human biology.

Pharmacokinetic variations in cancer patients with liver dysfunction: applications and challenges of pharmacometabolomics.

PubMed

Aboel Dahab, Ali; El-Hag, Dhia; Moutamed, Gamal M; Aboel Dahab, Sarah; Abuknesha, Ramadan; Smith, Norman W

2016-09-01

In cancer patients, pharmacokinetic variations between individuals and within individuals due to impairments in organs' function and other reasons such as genetic polymorphisms represent a major problem in disease management, which can result in unpredictable toxicity and variable antineoplastic effects. Addressing pharmacokinetic variations in cancer patients with liver dysfunction and their implications on anticancer and analgesic drugs, in addition to the use of advanced analytical techniques such as metabolomics and pharmacometabolomics, to monitor altered kinetic and discover metabolic biomarkers during therapeutic intervention will help in understanding and reducing pharmacokinetic variations of drugs in cancer patients as a step forward towards personalised medicine. Reviewing published literature addressing and/or related to complications resulting from altered pharmacokinetics (PKs) in cancer patients with liver dysfunction, anticancer and analgesic drugs, evaluating recent advances of pharmacokinetic detection using metabolomics/pharmacometabolomics and the challenges that are currently facing these techniques. The current situation presents a pressing need to reduce pharmacokinetic variations of drugs in cancer patients. Although most of the omics technologies are not entirely focussed on the study of pharmacokinetic variations and some studies are met with uncertainty, the use of pharmacometabolomics combined with other omics technology such as pharmacogenomics can provide clues to personalised cancer treatments by providing useful information about the cancer patient's response to medical interventions via identification of patients' dependent variables, understanding of correlations between individuals and population PKs, and therapy outcomes to achieve optimum therapeutic effects with minimum toxicity. We also propose an approach for PKs' evaluation using pharmacometabolomics.

Natural variations in OsγTMT contribute to diversity of the α-tocopherol content in rice.

PubMed

Wang, Xiao-Qiang; Yoon, Min-Young; He, Qiang; Kim, Tae-Sung; Tong, Wei; Choi, Bu-Woong; Lee, Young-Sang; Park, Yong-Jin

2015-12-01

Tocopherols and tocotrienols, collectively known as tocochromanols, are lipid-soluble molecules that belong to the group of vitamin E compounds. Among them, α-tocopherol (αΤ) is one of the antioxidants with diverse functions and benefits for humans and animals. Thus, understanding the genetic basis of these traits would be valuable to improve nutritional quality by breeding in rice. Genome-wide association study (GWAS) has emerged as a powerful strategy for identifying genes or quantitative trait loci (QTL) underlying complex traits in plants. To discover the genes or QTLs underlying the naturally occurring variations of αΤ content in rice, we performed GWAS using 1.44 million high-quality single-nucleotide polymorphisms acquired from re-sequencing of 137 accessions from a diverse rice core collection. Thirteen candidate genes were found across 2-year phenotypic data, among which gamma-tocopherol methyltransferase (OsγTMT) was identified as the major factor responsible for the αΤ content among rice accessions. Nucleotide variations in the coding region of OsγTMT were significantly associated with the αΤ content variations, while nucleotide polymorphisms in the promoter region of OsγTMT also could partly demonstrate the correlation with αΤ content variations, according to our RNA expression analyses. This study provides useful information for genetic factors underlying αΤ content variations in rice, which will significantly contribute the research on αΤ biosynthesis mechanisms and αΤ improvement of rice.

Body size and pubertal development explain ethnic differences in structural geometry at the femur in Asian, Hispanic and white early adolescent girls living in the US

USDA-ARS?s Scientific Manuscript database

Variation in structural geometry is present in adulthood, but when this variation arises and what influences this variation prior to adulthood remains poorly understood. Ethnicity is commonly the focus of research of skeletal integrity and appears to explain some of the variation in quantification o...

Adapting AlphaLISA high throughput screen to discover a novel small-molecule inhibitor targeting protein arginine methyltransferase 5 in pancreatic and colorectal cancers

PubMed Central

Prabhu, Lakshmi; Wei, Han; Chen, Lan; Demir, Özlem; Sandusky, George; Sun, Emily; Wang, John; Mo, Jessica; Zeng, Lifan; Fishel, Melissa; Safa, Ahmad; Amaro, Rommie; Korc, Murray; Zhang, Zhong-Yin; Lu, Tao

2017-01-01

Pancreatic ductal adenocarcinoma (PDAC) and colorectal cancer (CRC) are notoriously challenging for treatment. Hyperactive nuclear factor κB (NF-κB) is a common culprit in both cancers. Previously, we discovered that protein arginine methyltransferase 5 (PRMT5) methylated and activated NF-κB. Here, we show that PRMT5 is highly expressed in PDAC and CRC. Overexpression of PRMT5 promoted cancer progression, while shRNA knockdown showed an opposite effect. Using an innovative AlphaLISA high throughput screen, we discovered a lead compound, PR5-LL-CM01, which exhibited robust tumor inhibition effects in both cancers. An in silico structure prediction suggested that PR5-LL-CM01 inhibits PRMT5 by binding with its active pocket. Importantly, PR5-LL-CM01 showed higher anti-tumor efficacy than the commercial PRMT5 inhibitor, EPZ015666, in both PDAC and CRC. This study clearly highlights the significant potential of PRMT5 as a therapeutic target in PDAC and CRC, and establishes PR5-LL-CM01 as a promising basis for new drug development in the future. PMID:28591716

The physics of black hole x ray novae

NASA Technical Reports Server (NTRS)

Wheeler, J. C.; Kim, S.-W.; Moscoso, M. D.; Mineshige, S.

1994-01-01

X-ray transients that are established or plausible black hole candidates have been discovered at a rate of about one per year in the galaxy for the last five years. There are now well over a dozen black hole candidates, most being in the category of X-ray novae with low-mass companions. There may be hundreds of such transient systems in the galaxy yet to be discovered. Classic black hole candidates like Cygnus X-1 with massive companions are in the minority, and their census in the galaxy and magellanic clouds is likely to be complete. The black hole X-ray novae (BHXN) do not represent only the most common environment in which to discover black holes. Their time dependence gives a major new probe with which to study the physics of accretion into black holes. The BHXN show both a soft X-ray flux from an optically thick disk and a hard power law tail that is reminiscent of AGN spectra. The result may be new insight into the classical systems like Cyg X-1 and LMC X-1 that show similar power law tails, but also to accretion into supermassive black holes and AGN.

SIMULATING THE TIMESCALE-DEPENDENT COLOR VARIATION IN QUASARS WITH A REVISED INHOMOGENEOUS DISK MODEL

DOE Office of Scientific and Technical Information (OSTI.GOV)

Cai, Zhen-Yi; Wang, Jun-Xian; Sun, Yu-Han

The UV–optical variability of active galactic nuclei and quasars is useful for understanding the physics of the accretion disk and is gradually being attributed to stochastic fluctuations over the accretion disk. Quasars generally appear bluer when they brighten in the UV–optical bands; the nature of this phenomenon remains controversial. Recently, Sun et al. discovered that the color variation of quasars is timescale-dependent, in the way that faster variations are even bluer than longer term ones. While this discovery can directly rule out models that simply attribute the color variation to contamination from the host galaxies, or to changes in themore » global accretion rates, it favors the stochastic disk fluctuation model as fluctuations in the inner-most hotter disk could dominate the short-term variations. In this work, we show that a revised inhomogeneous disk model, where the characteristic timescales of thermal fluctuations in the disk are radius-dependent (i.e., τ ∼ r ; based on that originally proposed by Dexter and Agol), can reproduce well a timescale-dependent color variation pattern, similar to the observed one and unaffected by the uneven sampling and photometric error. This demonstrates that one may statistically use variation emission at different timescales to spatially resolve the accretion disk in quasars, thus opening a new window with which to probe and test the accretion disk physics in the era of time domain astronomy. Caveats of the current model, which ought to be addressed in future simulations, are discussed.« less

Craniodental variation in Paranthropus boisei: a developmental and functional perspective.

PubMed

Wood, B; Lieberman, D E

2001-09-01

What levels and patterns of craniodental variation among a fossil hypodigm are necessary to reject the null hypothesis that only a single species is sampled? We suggest how developmental and functional criteria can be used to predict where in the skeleton of fossil hominins we should expect more, or less, within-species variation. We present and test three hypotheses about the factors contributing to craniodental variation in extant primate taxa, and then apply these results to the interpretation of the P. boisei hypodigm. Within the comparative samples of extant Homo, Pan, Gorilla, Pongo, and Colobus, variables from the cranial base, neurocranium, and face that are not subject to high magnitudes of strain have consistently lower levels of intraspecific variation than variables from regions of the face subject to high levels of strain. Dental size variables are intermediate in terms of their reliability. P. boisei is found to have a low degree of variability relative to extant primates for variables shown to be generally useful for testing taxonomic hypotheses. Contrary to the claims of Suwa et al. ([1997] Nature 389:489-492), the recently discovered material from Konso falls within the range of variation of the "pre-Konso" hypodigm of P. boisei for available conventional metrical variables. Those aspects of the Konso material that appear to extend the range of the P. boisei hypodigm involve regions of the skull predicted to be prone to high levels of within-species variation. The approach used in this study focuses on craniodental data, but it is applicable to other regions of the skeleton. Copyright 2001 Wiley-Liss, Inc.

The Nash Equilibrium Revisited: Chaos and Complexity Hidden in Simplicity

NASA Astrophysics Data System (ADS)

Fellman, Philip V.

The Nash Equilibrium is a much discussed, deceptively complex, method for the analysis of non-cooperative games (McLennan and Berg, 2005). If one reads many of the commonly available definitions the description of the Nash Equilibrium is deceptively simple in appearance. Modern research has discovered a number of new and important complex properties of the Nash Equilibrium, some of which remain as contemporary conundrums of extraordinary difficulty and complexity (Quint and Shubik, 1997). Among the recently discovered features which the Nash Equilibrium exhibits under various conditions are heteroclinic Hamiltonian dynamics, a very complex asymptotic structure in the context of two-player bi-matrix games and a number of computationally complex or computationally intractable features in other settings (Sato, Akiyama and Farmer, 2002). This paper reviews those findings and then suggests how they may inform various market prediction strategies.

Discovering Network Structure Beyond Communities

NASA Astrophysics Data System (ADS)

Nishikawa, Takashi; Motter, Adilson E.

2011-11-01

To understand the formation, evolution, and function of complex systems, it is crucial to understand the internal organization of their interaction networks. Partly due to the impossibility of visualizing large complex networks, resolving network structure remains a challenging problem. Here we overcome this difficulty by combining the visual pattern recognition ability of humans with the high processing speed of computers to develop an exploratory method for discovering groups of nodes characterized by common network properties, including but not limited to communities of densely connected nodes. Without any prior information about the nature of the groups, the method simultaneously identifies the number of groups, the group assignment, and the properties that define these groups. The results of applying our method to real networks suggest the possibility that most group structures lurk undiscovered in the fast-growing inventory of social, biological, and technological networks of scientific interest.

The biology and preliminary host range of Megacopta cribraria (Heteroptera: Plataspidae) and its impact on kudzu growth

Treesearch

Yanzhuo Zhang; James L. Hanula; Scott Horn

2012-01-01

The bean plataspid, Megacopta cribraria (F.), recently was discovered in the United States feeding on kudzu, Pueraria montana Lour. (Merr.) variety lobata (Willd.), an economically important invasive vine. We studied its biology on kudzu and its impact on kudzu growth. We also tested its ability to use other common forest legumes for oviposition and development. Flight...

Worldwide Emerging Environmental Issues Affecting the U.S. Military. April 2004 - April 2005

DTIC Science & Technology

2005-04-01

cleaning up other chemical pollutants . [April 2004. Military Implications and Source] New Genetically Modified Plant to Detect Landmine Explosive...Institute of Technology have discovered that duckweed, a common floating aquatic plant , can remove persistent organic pollutants (POPs) from wetlands...ceilings for 2010 for four pollutants : sulphur, NOx, VOCs, and ammonia, regulating emissions by sources (e.g. combustion plant , electricity production

A rare case of non-metastatic cholangiocarcinoma in a long standing choledochal cyst

PubMed Central

Goukassian, ID; Kussman, SR; Toribo, Y; McAneny, DB; Rosen, JE

2012-01-01

Choledochal cysts are rare benign growths that can develop into cancerous lesions if left untreated. The cysts are commonly discovered incidentally during imaging procedures for other reasons. Surgical resection is recommended to avoid risk of cancer or metastatic disease. A rare case of a non-metastatic cholangiocarcinoma in a longstanding choledochal cyst is presented in this case report. PMID:24960829

A rare case of non-metastatic cholangiocarcinoma in a long standing choledochal cyst.

PubMed

Goukassian, Id; Kussman, Sr; Toribo, Y; McAneny, Db; Rosen, Je

2012-04-01

Choledochal cysts are rare benign growths that can develop into cancerous lesions if left untreated. The cysts are commonly discovered incidentally during imaging procedures for other reasons. Surgical resection is recommended to avoid risk of cancer or metastatic disease. A rare case of a non-metastatic cholangiocarcinoma in a longstanding choledochal cyst is presented in this case report. © JSCR.

Leptographium tereforme, sp. nov. and other Ophiostomatales isolated from the redhaired pine bark beetle, Hylurgus ligniperda, in California

Treesearch

S. Kim; T.C. Harrington; J. C. Lee; S. J. Seybold

2011-01-01

The redhaired pine bark beetle Hylurgus ligniperda (F.) is native to Europe but was discovered in Los Angeles, California, in 2003. This root- and stump-feeding beetle is a common vector of Ophiostomatales, which are potential tree pathogens or causes of blue stain of conifer sapwood. In this study Ophiostomatales were isolated on a...

A technique for mapping urban ash trees using object-based image analysis

Treesearch

Dacia M. Meneguzzo; Susan J. Crocker; Greg C. Liknes

2010-01-01

Ash trees are an important resource in the State of Minnesota and a common fixture lining the streets of the Twin Cities metropolitan area. In 2009, the emerald ash borer (EAB), an invasive pest of ash, was discovered in the city of St. Paul. To properly respond to the new-found threat, decisionmakers would benefit from detailed, spatially explicit information on the...

The evolutionary imprint of domestication on genome variation and function of the filamentous fungus Aspergillus oryzae

PubMed Central

Gibbons, John G.; Salichos, Leonidas; Slot, Jason C.; Rinker, David C.; McGary, Kriston L.; King, Jonas G.; Klich, Maren A.; Tabb, David L.; McDonald, W. Hayes; Rokas, Antonis

2012-01-01

Summary The domestication of animals, plants and microbes fundamentally transformed the lifestyle and demography of the human species [1]. Although the genetic and functional underpinnings of animal and plant domestication are well understood, little is known about microbe domestication [2–6]. We systematically examined genome-wide sequence and functional variation between the domesticated fungus Aspergillus oryzae, whose saccharification abilities humans have harnessed for thousands of years to produce sake, soy sauce and miso from starch-rich grains, and its wild relative A. flavus, a potentially toxigenic plant and animal pathogen [7]. We discovered dramatic changes in the sequence variation and abundance profiles of genes and wholesale primary and secondary metabolic pathways between domesticated and wild relative isolates during growth on rice. Through selection by humans, our data suggest that an atoxigenic lineage of A. flavus gradually evolved into a “cell factory” for enzymes and metabolites involved in the saccharification process. These results suggest that whereas animal and plant domestication was largely driven by Neolithic “genetic tinkering” of developmental pathways, microbe domestication was driven by extensive remodeling of metabolism. PMID:22795693

Label-free screening of niche-to-niche variation in satellite stem cells using functionalized pores

NASA Astrophysics Data System (ADS)

Chapman, Matthew R.; Balakrishnan, Karthik; Conboy, Michael J.; Mohanty, Swomitra; Jabart, Eric; Huang, Haiyan; Hack, James; Conboy, Irina M.; Sohn, Lydia L.

2012-02-01

Combinations of surface markers are currently used to identify muscle satellite cells. Using pores functionalized with specific antibodies and measuring the transit time of cells passing through these pores, we discovered remarkable heterogeneity in the expression of these markers in muscle (satellite) stem cells that reside in different single myofibers. Microniche-specific variation in stem cells of the same organ has not been previously described, as bulk analysis does not discriminate between separate myofibers or even separate hind-leg muscle groups. We found a significant population of Sca-1+ satellite cells that form myotubes, thereby demonstrating the myogenic potential of Sca-1+ cells, which are currently excluded in bulk sorting. Finally, using our label-free pore screening technique, we have been able to quantify directly surface expression of Notch1 without activation of the Notch pathway. We show for the first time Notch1-expression heterogeneity in unactivated satellite cells. The discovery of fiber-to-fiber variations prompts new research into the reasons for such diversity in muscle stem cells.

Genomic determinants of epidermal appendage patterning and structure in domestic birds.

PubMed

Boer, Elena F; Van Hollebeke, Hannah F; Shapiro, Michael D

2017-09-15

Variation in regional identity, patterning, and structure of epidermal appendages contributes to skin diversity among many vertebrate groups, and is perhaps most striking in birds. In pioneering work on epidermal appendage patterning, John Saunders and his contemporaries took advantage of epidermal appendage diversity within and among domestic chicken breeds to establish the importance of mesoderm-ectoderm signaling in determining skin patterning. Diversity in chickens and other domestic birds, including pigeons, is driving a new wave of research to dissect the molecular genetic basis of epidermal appendage patterning. Domestic birds are not only outstanding models for embryonic manipulations, as Saunders recognized, but they are also ideal genetic models for discovering the specific genes that control normal development and the mutations that contribute to skin diversity. Here, we review recent genetic and genomic approaches to uncover the basis of epidermal macropatterning, micropatterning, and structural variation. We also present new results that confirm expression changes in two limb identity genes in feather-footed pigeons, a case of variation in appendage structure and identity. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Tissue-Specific and Cation/Anion-Specific DNA Methylation Variations Occurred in C. virgata in Response to Salinity Stress

PubMed Central

Gao, Xiang; Cao, Donghui; Liu, Jie; Wang, Xiaoping; Geng, Shujuan; Liu, Bao; Shi, Decheng

2013-01-01

Salinity is a widespread environmental problem limiting productivity and growth of plants. Halophytes which can adapt and resist certain salt stress have various mechanisms to defend the higher salinity and alkalinity, and epigenetic mechanisms especially DNA methylation may play important roles in plant adaptability and plasticity. In this study, we aimed to investigate the different influences of various single salts (NaCl, Na2SO4, NaHCO3, Na2CO3) and their mixed salts on halophyte Chloris. virgata from the DNA methylation prospective, and discover the underlying relationships between specific DNA methylation variations and specific cations/anions through the methylation-sensitive amplification polymorphism analysis. The results showed that the effects on DNA methylation variations of single salts were ranked as follows: Na2CO3> NaHCO3> Na2SO4> NaCl, and their mixed salts exerted tissue-specific effects on C. virgata seedlings. Eight types of DNA methylation variations were detected and defined in C. virgata according to the specific cations/anions existed in stressful solutions; in addition, mix-specific and higher pH-specific bands were the main type in leaves and roots independently. These findings suggested that mixed salts were not the simple combination of single salts. Furthermore, not only single salts but also mixed salts showed tissue-specific and cations/anions-specific DNA methylation variations. PMID:24223802

Tissue-specific and cation/anion-specific DNA methylation variations occurred in C. virgata in response to salinity stress.

PubMed

Gao, Xiang; Cao, Donghui; Liu, Jie; Wang, Xiaoping; Geng, Shujuan; Liu, Bao; Shi, Decheng

2013-01-01

Salinity is a widespread environmental problem limiting productivity and growth of plants. Halophytes which can adapt and resist certain salt stress have various mechanisms to defend the higher salinity and alkalinity, and epigenetic mechanisms especially DNA methylation may play important roles in plant adaptability and plasticity. In this study, we aimed to investigate the different influences of various single salts (NaCl, Na2SO4, NaHCO3, Na2CO3) and their mixed salts on halophyte Chloris. virgata from the DNA methylation prospective, and discover the underlying relationships between specific DNA methylation variations and specific cations/anions through the methylation-sensitive amplification polymorphism analysis. The results showed that the effects on DNA methylation variations of single salts were ranked as follows: Na2CO3> NaHCO3> Na2SO4> NaCl, and their mixed salts exerted tissue-specific effects on C. virgata seedlings. Eight types of DNA methylation variations were detected and defined in C. virgata according to the specific cations/anions existed in stressful solutions; in addition, mix-specific and higher pH-specific bands were the main type in leaves and roots independently. These findings suggested that mixed salts were not the simple combination of single salts. Furthermore, not only single salts but also mixed salts showed tissue-specific and cations/anions-specific DNA methylation variations.

Brain modularity across the theropod-bird transition: testing the influence of flight on neuroanatomical variation.

PubMed

Balanoff, Amy M; Smaers, Jeroen B; Turner, Alan H

2016-08-01

Living birds constitute the only vertebrate group whose brain volume relative to body size approaches the uniquely expanded values expressed by mammals. The broad suite of complex behaviors exhibited by crown-group birds, including sociality, vocal learning, parental care, and flying, suggests the origins of their encephalization was likely driven by a mosaic of selective pressures. If true, the historical pattern of brain expansion may be more complex than either a gradual expansion, as proposed by early studies of the avian brain, or a sudden expansion correlating with the appearance of flight. The origins of modern avian neuroanatomy are obscured by the more than 100 million years of evolution along their phylogenetic stem (from the origin of the modern radiation in the Middle Jurassic to the split from crocodile-line archosaurs). Here we use phylogenetic comparative approaches to explore which evolutionary scenarios best explain variation in measured volumes of digitally partitioned endocasts of modern birds and their non-avian ancestors. Our analyses suggest that variation in the relative volumes of the endocranium and cerebrum explain most of the structural variation in this lineage. Generalized multi-regime Ornstein-Uhlenbeck (OU) models suggest that powered flight does not appear to be a driver of observed variation, reinforcing the hypothesis that the deep history of the avian brain is complex, with nuances still to be discovered. © 2015 Anatomical Society.

Natural Allelic Variations in Highly Polyploidy Saccharum Complex

DOE Office of Scientific and Technical Information (OSTI.GOV)

Song, Jian; Yang, Xiping; Resende, Jr., Marcio F. R.

Sugarcane ( Saccharum spp.) is an important sugar and biofuel crop with high polyploid and complex genomes. The Saccharum complex, comprised of Saccharum genus and a few related genera, are important genetic resources for sugarcane breeding. A large amount of natural variation exists within the Saccharum complex. Though understanding their allelic variation has been challenging, it is critical to dissect allelic structure and to identify the alleles controlling important traits in sugarcane. To characterize natural variations in Saccharum complex, a target enrichment sequencing approach was used to assay 12 representative germplasm accessions. In total, 55,946 highly efficient probes were designedmore » based on the sorghum genome and sugarcane unigene set targeting a total of 6 Mb of the sugarcane genome. A pipeline specifically tailored for polyploid sequence variants and genotype calling was established. BWAmem and sorghum genome approved to be an acceptable aligner and reference for sugarcane target enrichment sequence analysis, respectively. Genetic variations including 1,166,066 non-redundant SNPs, 150,421 InDels, 919 gene copy number variations, and 1,257 gene presence/absence variations were detected. SNPs from three different callers (Samtools, Freebayes, and GATK) were compared and the validation rates were nearly 90%. Based on the SNP loci of each accession and their ploidy levels, 999,258 single dosage SNPs were identified and most loci were estimated as largely homozygotes. An average of 34,397 haplotype blocks for each accession was inferred. The highest divergence time among the Saccharum spp. was estimated as 1.2 million years ago (MYA). Saccharum spp. diverged from Erianthus and Sorghum approximately 5 and 6 MYA, respectively. Furthermore, the target enrichment sequencing approach provided an effective way to discover and catalog natural allelic variation in highly polyploid or heterozygous genomes.« less

Natural Allelic Variations in Highly Polyploidy Saccharum Complex

DOE PAGES

Song, Jian; Yang, Xiping; Resende, Jr., Marcio F. R.; ...

2016-06-08

Sugarcane ( Saccharum spp.) is an important sugar and biofuel crop with high polyploid and complex genomes. The Saccharum complex, comprised of Saccharum genus and a few related genera, are important genetic resources for sugarcane breeding. A large amount of natural variation exists within the Saccharum complex. Though understanding their allelic variation has been challenging, it is critical to dissect allelic structure and to identify the alleles controlling important traits in sugarcane. To characterize natural variations in Saccharum complex, a target enrichment sequencing approach was used to assay 12 representative germplasm accessions. In total, 55,946 highly efficient probes were designedmore » based on the sorghum genome and sugarcane unigene set targeting a total of 6 Mb of the sugarcane genome. A pipeline specifically tailored for polyploid sequence variants and genotype calling was established. BWAmem and sorghum genome approved to be an acceptable aligner and reference for sugarcane target enrichment sequence analysis, respectively. Genetic variations including 1,166,066 non-redundant SNPs, 150,421 InDels, 919 gene copy number variations, and 1,257 gene presence/absence variations were detected. SNPs from three different callers (Samtools, Freebayes, and GATK) were compared and the validation rates were nearly 90%. Based on the SNP loci of each accession and their ploidy levels, 999,258 single dosage SNPs were identified and most loci were estimated as largely homozygotes. An average of 34,397 haplotype blocks for each accession was inferred. The highest divergence time among the Saccharum spp. was estimated as 1.2 million years ago (MYA). Saccharum spp. diverged from Erianthus and Sorghum approximately 5 and 6 MYA, respectively. Furthermore, the target enrichment sequencing approach provided an effective way to discover and catalog natural allelic variation in highly polyploid or heterozygous genomes.« less

Double external jugular vein and other rare venous variations of the head and neck.

PubMed

Shenoy, Varsha; Saraswathi, Perumal; Raghunath, Gunapriya; Karthik, Jayakumar Sai

2012-12-01

Superficial veins of the head and neck are utilised for central venous cannulation, oral reconstruction and parenteral nutrition in debilitated patients. Clinical and sonological examinations of these veins may provide clues toward underlying cardiac pathology. Hence, although variations in these vessels are common, a sound knowledge of such variations becomes clinically important to surgeons, radiologists and interventional anaesthetists. We report a rare case of a left-sided double external jugular vein where the common facial vein continued as the second external jugular vein, and where there was a communicating channel between the internal jugular vein on the same side and the anterior jugular vein.

Anatomical variation of celiac axis, superior mesenteric artery, and hepatic artery: Evaluation with multidetector computed tomography angiography.

PubMed

Farghadani, Maryam; Momeni, Mohammad; Hekmatnia, Ali; Momeni, Fateme; Baradaran Mahdavi, Mohammad Mehdi

2016-01-01

The celiac axis, superior mesenteric artery (SMA), and hepatic artery are the most important branches of abdominal aorta due to their vascularization field. The aim of our study was to evaluate the prevalence of different anatomical variation of celiac axis, SMA, hepatic artery, and its branches with multidetector computed tomography (MDCT) angiography of upper abdomen arteries. MDCT of 607 kidney donor and traumatic patients that referred to MDCT unit at Al Zahra Hospital in Isfahan from 2012 to 2015 were retrospectively evaluated. We excluded patients with history of abdominal vascular surgery and hepatic or pancreatic surgery. Computed tomography images of the patient were obtained with 64-row MDCT scanner and anatomical variations were analyzed. Three hundred and eighty-eight (63.9%) of the 607 patients had classic arterial anatomy and 219 (36.1%) patients had variant types. The most common type of variation was the origin of the right hepatic artery (RHA) from SMA (9.6%), and the next common variation was the origin of the left hepatic artery (LHA) from the left gastric artery (6.9%). Variations in the origin of the common hepatic artery (CHA) were seen in 16 (2.6%) patients. Buhler arc was identified in two patients. The RHA originated from the celiac axis in 11 (1.8%) patients and from the aorta in 8 (1.3%) patients. Trifurcation of CHA into gastroduodenal artery, RHA, and LHA was detected in 11 (1.8%) patients. The results of the present study showed that anatomical variation occurs in a high percentage of patients. Detection of these variations can guide surgical and radiological interventional planning.

Rare variation facilitates inferences of fine-scale population structure in humans.

PubMed

O'Connor, Timothy D; Fu, Wenqing; Mychaleckyj, Josyf C; Logsdon, Benjamin; Auer, Paul; Carlson, Christopher S; Leal, Suzanne M; Smith, Joshua D; Rieder, Mark J; Bamshad, Michael J; Nickerson, Deborah A; Akey, Joshua M

2015-03-01

Understanding the genetic structure of human populations has important implications for the design and interpretation of disease mapping studies and reconstructing human evolutionary history. To date, inferences of human population structure have primarily been made with common variants. However, recent large-scale resequencing studies have shown an abundance of rare variation in humans, which may be particularly useful for making inferences of fine-scale population structure. To this end, we used an information theory framework and extensive coalescent simulations to rigorously quantify the informativeness of rare and common variation to detect signatures of fine-scale population structure. We show that rare variation affords unique insights into patterns of recent population structure. Furthermore, to empirically assess our theoretical findings, we analyzed high-coverage exome sequences in 6,515 European and African American individuals. As predicted, rare variants are more informative than common polymorphisms in revealing a distinct cluster of European-American individuals, and subsequent analyses demonstrate that these individuals are likely of Ashkenazi Jewish ancestry. Our results provide new insights into the population structure using rare variation, which will be an important factor to account for in rare variant association studies. © The Author 2014. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

A Civilian/Military Trauma Institute: National Trauma Coordinating Center

DTIC Science & Technology

2012-10-01

the variation in practices for DVT screening, and there was another paper which talks about variation in practices about pain management for rib ...pelvic fractures , and long bone extremity fractures (femur or tibia). TBI was chosen as it is the most common cause of death and disability in...trauma patients, while hemorrhage is the second leading cause of death. Fractures were chosen as they represent a common injury in trauma patients. These

Association of Cytokine Candidate Genes with Severity of Pain and Co-Occurring Symptoms in Breast Cancer Patients Receiving Chemotherapy

DTIC Science & Technology

2013-10-01

identify common genetic variations (i.e., single nucleotide polymorphisms [ SNPs ] and haplotypes) in cytokine genes, as well demographic, clinical, and...Center. The purpose of the proposed project is to identify common genetic variations (i.e., single nucleotide polymorphisms [ SNPs ] and haplotypes) in...research team continues to meet monthly to discuss progress with regards to recruitment, enrollment, and data collection. Training in Genetics In year

COMPUTED TOMOGRAPHIC APPEARANCE OF THE TEMPOROMANDIBULAR JOINT IN 1018 ASYMPTOMATIC HORSES: A MULTI-INSTITUTION STUDY.

PubMed

Carmalt, James L; Kneissl, Sibylle; Rawlinson, Jennifer E; Zwick, Timo; Zekas, Lisa; Ohlerth, Stefanie; Bienert-Zeit, Astrid

2016-05-01

Published descriptions of nonseptic arthritis of the equine temporomandibular joint (TMJ) are rare and large studies investigating variations in the TMJ for asymptomatic horses are lacking. The objectives of this cross-sectional, retrospective, multi-institutional study were to describe anatomical variations in the TMJ detected using computed tomography (CT) in an equid population asymptomatic for TMJ disease and determine whether these variations were associated with patient signalment, reason for CT examination, or CT slice width. Medical records at eight hospitals were searched for horses that had head/neck CT scans and no clinical signs of TMJ disease. Age, breed, sex, clinical presentation, and CT slice width data were recorded. Alterations in CT contour and density of the mandibular condyles, mandibular fossae, and TMJ intra-articular discs were described for each horse. Generalized logistic regression was used to test associations between anatomical variations and horse age. A total of 1018 horses were sampled. Anatomical variations were found in TMJ CT images for 40% of horses and 29% of joints. These were dichotomous with regard to age. Horses <1 year old commonly had alterations in the shape and density of the mandibular condyle. Older horses commonly had spherical hypodensities within the mandibular condyles consistent with bone cysts; and hyperdense regions of the intra-articular disc consistent with dystrophic mineralization. Findings indicated that TMJ anatomic variations were common in CT images of younger and older horses asymptomatic for TMJ disease. Future studies are needed to more definitively characterize these CT variations using gross pathology and histopathology. © 2016 American College of Veterinary Radiology.

The CommonGround Visual Paradigm for Biosurveillance

DOE Office of Scientific and Technical Information (OSTI.GOV)

Livnat, Yarden; Jurrus, Elizabeth R.; Gundlapalli, Adi V.

2013-06-14

Biosurveillance is a critical area in the intelligence community for real-time detection of disease outbreaks. Identifying epidemics enables analysts to detect and monitor disease outbreaks that might be spread from natural causes or from possible biological warfare attacks. Containing these events and disseminating alerts requires the ability to rapidly find, classify and track harmful biological signatures. In this paper, we describe a novel visual paradigm to conduct biosurveillance using an Infectious Disease Weather Map. Our system provides a visual common ground in which users can view, explore and discover emerging concepts and correlations such as symptoms, syndromes, pathogens, and geographicmore » locations.« less

Successful simultaneous ipsilateral stenting of common iliac artery stenosis and transfemoral aortic valve replacement.

PubMed

Aslan, Abdullah Nabi; Kasapkara, Hacı Ahmet; Sivri, Serkan; Güney, Murat Can; Bozkurt, Engin

2017-01-01

Transcatheter aortic valve replacement (TAVR) was designed to treat elderly patients with severe aortic stenosis at high risk for surgery, and is most commonly performed with retrograde approach through femoral arteries. However, in up to 30% of cases, it is either not possible to use this access route or it is considered to have high risk of vascular injury. Alternative approaches have been described for patients with no suitable femoral access: trans-subclavian, transaortic, or direct aortic access; however, since the introduction of new valves deployed with low-profile delivery systems, another alternative transcatheter approach has been discovered. Presently described is experience in 2 cases in which patients were treated with transfemoral TAVR using Edwards SAPIEN 3 transcatheter heart valves immediately following ipsilateral common iliac artery stenting.

Design space exploration for early identification of yield limiting patterns

NASA Astrophysics Data System (ADS)

Li, Helen; Zou, Elain; Lee, Robben; Hong, Sid; Liu, Square; Wang, JinYan; Du, Chunshan; Zhang, Recco; Madkour, Kareem; Ali, Hussein; Hsu, Danny; Kabeel, Aliaa; ElManhawy, Wael; Kwan, Joe

2016-03-01

In order to resolve the causality dilemma of which comes first, accurate design rules or real designs, this paper presents a flow for exploration of the layout design space to early identify problematic patterns that will negatively affect the yield. A new random layout generating method called Layout Schema Generator (LSG) is reported in this paper, this method generates realistic design-like layouts without any design rule violation. Lithography simulation is then used on the generated layout to discover the potentially problematic patterns (hotspots). These hotspot patterns are further explored by randomly inducing feature and context variations to these identified hotspots through a flow called Hotspot variation Flow (HSV). Simulation is then performed on these expanded set of layout clips to further identify more problematic patterns. These patterns are then classified into design forbidden patterns that should be included in the design rule checker and legal patterns that need better handling in the RET recipes and processes.

The detection and characterization of a nontransiting planet by transit timing variations.

PubMed

Nesvorný, David; Kipping, David M; Buchhave, Lars A; Bakos, Gáspár Á; Hartman, Joel; Schmitt, Allan R

2012-06-01

The Kepler mission is monitoring the brightness of ~150,000 stars, searching for evidence of planetary transits. As part of the Hunt for Exomoons with Kepler (HEK) project, we report a planetary system with two confirmed planets and one candidate planet discovered with the publicly available data for KOI-872. Planet b transits the host star with a period P(b) = 33.6 days and exhibits large transit timing variations indicative of a perturber. Dynamical modeling uniquely detects an outer nontransiting planet c near the 5:3 resonance (P(c) = 57.0 days) with a mass 0.37 times that of Jupiter. Transits of a third planetary candidate are also found: a 1.7-Earth radius super-Earth with a 6.8-day period. Our analysis indicates a system with nearly coplanar and circular orbits, reminiscent of the orderly arrangement within the solar system.

Sea ice studies in the Spitsbergen-Greenland area

NASA Technical Reports Server (NTRS)

Vinje, T. E. (Principal Investigator)

1976-01-01

The author has identified the following significant results. Detailed information on the outflow through the Fram Strait of ice from the Polar Ocean over shorter periods was obtained. It is found that the speed of the outflow may vary about 100% over periods of a few days. The core of the East Greenland Current is found between 2 deg E and 4 deg W. The speed of the surface water at 81 deg N is for a calm period estimated to be about 10 cm/s. A new surging glacier was discovered and new fronts of several glaciers were determined. The variation of the snow line with respect to distance from the coast was for the first time determined for the southern part of Spitsbergen. Great variations were observed, from 200 m in east to 550 m in the central area of the island.

Technical approaches for mouse models of human disease.

PubMed

Justice, Monica J; Siracusa, Linda D; Stewart, A Francis

2011-05-01

The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain desired gene mutations by using the following processes: targeted mutations that eliminate function in the whole organism or in a specific tissue; forward genetic screens using chemicals or transposons; or the introduction of exogenous transgenes as DNAs, bacterial artificial chromosomes (BACs) or reporter constructs. The mouse is the only mammal that provides such a rich resource of genetic diversity coupled with the potential for extensive genome manipulation, and is therefore a powerful application for modeling human disease. This poster review outlines the major genome manipulations available in the mouse that are used to understand human disease: natural variation, reverse genetics, forward genetics, transgenics and transposons. Each of these applications will be essential for understanding the diversity that is being discovered within the human population.

Observations of the Crab Nebula with the Chandra X-Ray Observatory

NASA Technical Reports Server (NTRS)

Weisskopf, Martin C.

2012-01-01

The Crab nebula and its associated pulsar have been the target of thousands of observations at all wavelengths over the years. Nevertheless, the system continues to provide new surprises and observational insights into its physical mechanisms. We shall discuss a number of new results we have obtained through Chandra observations. Results include highly detailed pulse-phase spectroscopy which poses challenges to our understanding of pulsar emission mechanisms, a new and precise look at the pulsar geometry, a study of the spatial and temporal variation(s) of the southern jet, and the results of a search for the site of the recently-discovered gamma ]ray flares. We have been using the Chandra X -Ray observatory to monitor the Crab on a monthly cadence since just after the 2010 September gamma ]ray flare. We were fortunate to trigger series of preplanned target of opportunity observations during the 2011 April flare.

Genome-wide Association Study Identifies Loci for the Polled Phenotype in Yak

PubMed Central

Wu, Xiaoyun; Wang, Kun; Ding, Xuezhi; Wang, Mingcheng; Chu, Min; Xie, Xiuyue; Qiu, Qiang; Yan, Ping

2016-01-01

The absence of horns, known as the polled phenotype, is an economically important trait in modern yak husbandry, but the genomic structure and genetic basis of this phenotype have yet to be discovered. Here, we conducted a genome-wide association study with a panel of 10 horned and 10 polled yaks using whole genome sequencing. We mapped the POLLED locus to a 200-kb interval, which comprises three protein-coding genes. Further characterization of the candidate region showed recent artificial selection signals resulting from the breeding process. We suggest that expressional variations rather than structural variations in protein probably contribute to the polled phenotype. Our results not only represent the first and important step in establishing the genomic structure of the polled region in yak, but also add to our understanding of the polled trait in bovid species. PMID:27389700

Representation matters: quantitative behavioral variation in wild worm strains

NASA Astrophysics Data System (ADS)

Brown, Andre

Natural genetic variation in populations is the basis of genome-wide association studies, an approach that has been applied in large studies of humans to study the genetic architecture of complex traits including disease risk. Of course, the traits you choose to measure determine which associated genes you discover (or miss). In large-scale human studies, the measured traits are usually taken as a given during the association step because they are expensive to collect and standardize. Working with the nematode worm C. elegans, we do not have the same constraints. In this talk I will describe how large-scale imaging of worm behavior allows us to develop alternative representations of behavior that vary differently across wild populations. The alternative representations yield novel traits that can be used for genome-wide association studies and may reveal basic properties of the genotype-phenotype map that are obscured if only a small set of fixed traits are used.

Genus Ranges of Chord Diagrams

PubMed Central

Burns, Jonathan; Jonoska, Nataša; Saito, Masahico

2015-01-01

A chord diagram consists of a circle, called the backbone, with line segments, called chords, whose endpoints are attached to distinct points on the circle. The genus of a chord diagram is the genus of the orientable surface obtained by thickening the backbone to an annulus and attaching bands to the inner boundary circle at the ends of each chord. Variations of this construction are considered here, where bands are possibly attached to the outer boundary circle of the annulus. The genus range of a chord diagram is the genus values over all such variations of surfaces thus obtained from a given chord diagram. Genus ranges of chord diagrams for a fixed number of chords are studied. Integer intervals that can be, and those that cannot be, realized as genus ranges are investigated. Computer calculations are presented, and play a key role in discovering and proving the properties of genus ranges. PMID:26478650

Genus Ranges of Chord Diagrams.

PubMed

Burns, Jonathan; Jonoska, Nataša; Saito, Masahico

2015-04-01

A chord diagram consists of a circle, called the backbone, with line segments, called chords, whose endpoints are attached to distinct points on the circle. The genus of a chord diagram is the genus of the orientable surface obtained by thickening the backbone to an annulus and attaching bands to the inner boundary circle at the ends of each chord. Variations of this construction are considered here, where bands are possibly attached to the outer boundary circle of the annulus. The genus range of a chord diagram is the genus values over all such variations of surfaces thus obtained from a given chord diagram. Genus ranges of chord diagrams for a fixed number of chords are studied. Integer intervals that can be, and those that cannot be, realized as genus ranges are investigated. Computer calculations are presented, and play a key role in discovering and proving the properties of genus ranges.

SNP in starch biosynthesis genes associated with nutritional and functional properties of rice

PubMed Central

Kharabian-Masouleh, Ardashir; Waters, Daniel L. E.; Reinke, Russell F.; Ward, Rachelle; Henry, Robert J.

2012-01-01

Starch is a major component of human diets. The relative contribution of variation in the genes of starch biosynthesis to the nutritional and functional properties of the rice was evaluated in a rice breeding population. Sequencing 18 genes involved in starch synthesis in a population of 233 rice breeding lines discovered 66 functional SNPs in exonic regions. Five genes, AGPS2b, Isoamylase1, SPHOL, SSIIb and SSIVb showed no polymorphism. Association analysis found 31 of the SNP were associated with differences in pasting and cooking quality properties of the rice lines. Two genes appear to be the major loci controlling traits under human selection in rice, GBSSI (waxy gene) and SSIIa. GBSSI influenced amylose content and retrogradation. Other genes contributing to retrogradation were GPT1, SSI, BEI and SSIIIa. SSIIa explained much of the variation in cooking characteristics. Other genes had relatively small effects. PMID:22870386

Reconstruction of Solar EUV Flux 1740-2015

NASA Astrophysics Data System (ADS)

Svalgaard, L.

2015-12-01

Solar Extreme Ultraviolet (EUV) radiation creates the conducting E-layer of the ionosphere, mainly by photo ionization of molecular Oxygen. Solar heating of the ionosphere creates thermal winds which by dynamo action induce an electric field driving an electric current having a magnetic effect observable on the ground, as was discovered by G. Graham in 1722. The current rises and sets with the Sun and thus causes a readily observable diurnal variation of the geomagnetic field, allowing us the deduce the conductivity and thus the EUV flux as far back as reliable magnetic data reach. High-quality data go back to the 'Magnetic Crusade' of the 1830s and less reliable, but still usable, data are available for portions of the hundred years before that. J.R. Wolf and, independently, J.-A. Gautier discovered the dependence of the diurnal variation on solar activity, and today we understand and can invert that relationship to construct a reliable record of the EUV flux from the geomagnetic record. We compare that to the F10.7 flux and the sunspot number, and find that the reconstructed EUV flux reproduces the F10.7 flux with great accuracy. On the other hand, it appears that the Relative Sunspot Number as currently defined is beginning to no longer be a faithful representation of solar magnetic activity, at least as measured by the EUV and related indices. The reconstruction suggests that the EUV flux reaches the same low (but non-zero) value at every sunspot minimum (possibly including Grand Minima), representing an invariant 'solar magnetic ground state'.

Reconstruction of Solar Extreme Ultraviolet Flux 1740 - 2015

NASA Astrophysics Data System (ADS)

Svalgaard, Leif

2016-11-01

Solar extreme ultraviolet (EUV) radiation creates the conducting E-layer of the ionosphere, mainly by photo-ionization of molecular oxygen. Solar heating of the ionosphere creates thermal winds, which by dynamo action induce an electric field driving an electric current having a magnetic effect observable on the ground, as was discovered by G. Graham in 1722. The current rises and falls with the Sun, and thus causes a readily observable diurnal variation of the geomagnetic field, allowing us to deduce the conductivity and thus the EUV flux as far back as reliable magnetic data reach. High-quality data go back to the "Magnetic Crusade" of the 1830s and less reliable, but still usable, data are available for portions of the 100 years before that. J.R. Wolf and, independently, J.-A. Gautier discovered the dependence of the diurnal variation on solar activity, and today we understand and can invert that relationship to construct a reliable record of the EUV flux from the geomagnetic record. We compare that to the F_{10.7} flux and the sunspot number, and we find that the reconstructed EUV flux reproduces the F_{10.7} flux with great accuracy. On the other hand, it appears that the Relative Sunspot Number as currently defined is beginning to no longer be a faithful representation of solar magnetic activity, at least as measured by the EUV and related indices. The reconstruction suggests that the EUV flux reaches the same low (but non-zero) value at every sunspot minimum (possibly including Grand Minima), representing an invariant "solar magnetic ground state".

The functional spectrum of low-frequency coding variation.

PubMed

Marth, Gabor T; Yu, Fuli; Indap, Amit R; Garimella, Kiran; Gravel, Simon; Leong, Wen Fung; Tyler-Smith, Chris; Bainbridge, Matthew; Blackwell, Tom; Zheng-Bradley, Xiangqun; Chen, Yuan; Challis, Danny; Clarke, Laura; Ball, Edward V; Cibulskis, Kristian; Cooper, David N; Fulton, Bob; Hartl, Chris; Koboldt, Dan; Muzny, Donna; Smith, Richard; Sougnez, Carrie; Stewart, Chip; Ward, Alistair; Yu, Jin; Xue, Yali; Altshuler, David; Bustamante, Carlos D; Clark, Andrew G; Daly, Mark; DePristo, Mark; Flicek, Paul; Gabriel, Stacey; Mardis, Elaine; Palotie, Aarno; Gibbs, Richard

2011-09-14

Rare coding variants constitute an important class of human genetic variation, but are underrepresented in current databases that are based on small population samples. Recent studies show that variants altering amino acid sequence and protein function are enriched at low variant allele frequency, 2 to 5%, but because of insufficient sample size it is not clear if the same trend holds for rare variants below 1% allele frequency. The 1000 Genomes Exon Pilot Project has collected deep-coverage exon-capture data in roughly 1,000 human genes, for nearly 700 samples. Although medical whole-exome projects are currently afoot, this is still the deepest reported sampling of a large number of human genes with next-generation technologies. According to the goals of the 1000 Genomes Project, we created effective informatics pipelines to process and analyze the data, and discovered 12,758 exonic SNPs, 70% of them novel, and 74% below 1% allele frequency in the seven population samples we examined. Our analysis confirms that coding variants below 1% allele frequency show increased population-specificity and are enriched for functional variants. This study represents a large step toward detecting and interpreting low frequency coding variation, clearly lays out technical steps for effective analysis of DNA capture data, and articulates functional and population properties of this important class of genetic variation.

Impact of Parental Bos taurus and Bos indicus Origins on Copy Number Variation in Traditional Chinese Cattle Breeds

PubMed Central

Zhang, Liangzhi; Jia, Shangang; Plath, Martin; Huang, Yongzhen; Li, Congjun; Lei, Chuzhao; Zhao, Xin; Chen, Hong

2015-01-01

Copy number variation (CNV) is an important component of genomic structural variation and plays a role not only in evolutionary diversification but also in domestication. Chinese cattle were derived from Bos taurus and Bos indicus, and several breeds presumably are of hybrid origin, but the evolution of CNV regions (CNVRs) has not yet been examined in this context. Here, we of CNVRs, mtDNA D-loop sequence variation, and Y-chromosomal single nucleotide polymorphisms to assess the impact of maternal and paternal B. taurus and B. indicus origins on the distribution of CNVRs in 24 Chinese domesticated bulls. We discovered 470 genome-wide CNVRs, only 72 of which were shared by all three Y-lineages (B. taurus: Y1, Y2; B. indicus: Y3), whereas 265 were shared by inferred taurine or indicine paternal lineages, and 228 when considering their maternal taurine or indicine origins. Phylogenetic analysis uncovered eight taurine/indicine hybrids, and principal component analysis on CNVs corroborated genomic exchange during hybridization. The distribution patterns of CNVRs tended to be lineage-specific, and correlation analysis revealed significant positive or negative co-occurrences of CNVRs across lineages. Our study suggests that CNVs in Chinese cattle partly result from selective breeding during domestication, but also from hybridization and introgression. PMID:26260653

Wild rodents as a model to discover genes and pathways underlying natural variation in infectious disease susceptibility.

PubMed

Turner, A K; Paterson, S

2013-11-01

Individuals vary in their susceptibility to infectious disease, and it is now well established that host genetic factors form a major component of this variation. The discovery of genes underlying susceptibility has the potential to lead to improved disease control, through the identification and management of vulnerable individuals and the discovery of novel therapeutic targets. Laboratory rodents have proved invaluable for ascertaining the function of genes involved in immunity to infection. However, these captive animals experience conditions very different to the natural environment, lacking the genetic diversity and environmental pressures characteristic of natural populations, including those of humans. It has therefore often proved difficult to translate basic laboratory research to the real world. In order to further our understanding of the genetic basis of infectious disease resistance, and the evolutionary forces that drive variation in susceptibility, we propose that genetic research traditionally conducted on laboratory animals is expanded to the more ecologically valid arena of natural populations. In this article, we highlight the potential of using wild rodents as a new resource for biomedical research, to link the functional genetic knowledge gained from laboratory rodents with the variation in infectious disease susceptibility observed in humans and other natural populations. © 2013 John Wiley & Sons Ltd.

Cohort-specific imputation of gene expression improves prediction of warfarin dose for African Americans.

PubMed

Gottlieb, Assaf; Daneshjou, Roxana; DeGorter, Marianne; Bourgeois, Stephane; Svensson, Peter J; Wadelius, Mia; Deloukas, Panos; Montgomery, Stephen B; Altman, Russ B

2017-11-24

Genome-wide association studies are useful for discovering genotype-phenotype associations but are limited because they require large cohorts to identify a signal, which can be population-specific. Mapping genetic variation to genes improves power and allows the effects of both protein-coding variation as well as variation in expression to be combined into "gene level" effects. Previous work has shown that warfarin dose can be predicted using information from genetic variation that affects protein-coding regions. Here, we introduce a method that improves dose prediction by integrating tissue-specific gene expression. In particular, we use drug pathways and expression quantitative trait loci knowledge to impute gene expression-on the assumption that differential expression of key pathway genes may impact dose requirement. We focus on 116 genes from the pharmacokinetic and pharmacodynamic pathways of warfarin within training and validation sets comprising both European and African-descent individuals. We build gene-tissue signatures associated with warfarin dose in a cohort-specific manner and identify a signature of 11 gene-tissue pairs that significantly augments the International Warfarin Pharmacogenetics Consortium dosage-prediction algorithm in both populations. Our results demonstrate that imputed expression can improve dose prediction and bridge population-specific compositions. MATLAB code is available at https://github.com/assafgo/warfarin-cohort.

Extremophiles may be irrelevant to the origin of life.

PubMed

Cleaves, H James; Chalmers, John H

2004-01-01

In recent years, Bacteria and Archaea have been discovered living in practically every conceivable terrestrial environment, including some previously thought to be too extreme for survival. Exploration of our solar system has revealed a number of extraterrestrial bodies that harbor environments analogous to many of the terrestrial environments in which extremophiles flourish. The recent discovery of more than 105 extrasolar planets suggests that planetary systems are quite common. These three findings have led some to speculate that life is therefore common in the universe, as life as we know it can seemingly survive almost anywhere there is liquid water. It is suggested here that while environments capable of supporting life may be common, this does not in itself support the notion that life is common in the universe. Given that interplanetary transfer of life may be unlikely, the actual origin of life may require specific environmental and geological conditions that may be much less common than the mere existence of liquid water.

Mystery of a Dimming White Dwarf

NASA Astrophysics Data System (ADS)

Kohler, Susanna

2015-12-01

In the wake of the recent media attention over an enigmatic, dimming star, another intriguing object has been discovered: J1529+2928, a white dwarf that periodically dims. This mystery, however, may have a simple solution with interesting consequences for future surveys of white dwarfs.Unexpected VariabilityJ1529+2928 is an isolated white dwarf that appears to have a mass of slightly more than the Sun. But rather than radiating steadily, J1529+2928 dims once every 38 minutes almost as though it were being eclipsed.The team that discovered these variations, led by Mukremin Kilic (University of Oklahoma), used telescopes at the Apache Point Observatory and the McDonald Observatory to obtain follow-up photometric data of J1529+2928 spread across 66 days. The team also took spectra of the white dwarf with the Gemini North telescope.Kilic and collaborators then began, one by one, to rule out possible causes of this objects variability.Eliminating OptionsThe period of the variability is too long for J1529+2928 to be a pulsating white dwarf with luminosity variation caused by gravity-wave pulsations.The variability cant be due to an eclipse by a stellar or brown-dwarf companion, because there isnt any variation in J1529+2928s radial velocity.Its not due to the orbit of a solid-body planetary object; such a transit would be too short to explain observations.It cant be due to the orbit of a disintegrated planet; this wouldnt explain the light curves observed in different filters plus the light curve doesnt change over the 66-day span.Spotty SurfaceTop and middle two panels: light curves from three different nights observing J1529+2928s periodic dimming. Bottom panel: The Fourier transform shows a peak at 37.7 cycles/day (and another, smaller peak at its first harmonic). [Kilic et al. 2015]So what explanation is left? The authors suggest that J1529+2928s variability is likely caused by a starspot on the white dwarfs surface that rotates into and out of our view. Estimates show that the observed light curves could be created by a starspot at about 10,000K (compared to the white dwarfs effective temperature of ~11,900K), covering 14% of the surface area at an inclination of 90.The formation of such a starspot would almost certainly require the presence of magnetic fields. Interestingly, J1529+2928 doesnt have a strong magnetic field; from its spectra, the team can constrain its field strength to be less than 70 kG.Given that up to 15% of white dwarfs are thought to have kG magnetic fields, eclipse-like events such as this one might in fact be common for white dwarfs. If so, then many similar events will likely be observed with future surveys of transients like Keplers ongoing K2 mission, which is expected to image another several hundred white dwarfs, or the upcoming Large Synoptic Survey Telescope, which will image 13 million white dwarfs.CitationMukremin Kilic et al 2015 ApJ 814 L31. doi:10.1088/2041-8205/814/2/L31

Anatomical variations and sinusitis.

PubMed

Jorissen, M; Hermans, R; Bertrand, B; Eloy, P

1997-01-01

Paranasal sinus anatomy and variations have gained interest with the introduction of functional endoscopic sinus surgery and the concept of the ostiomeatal complex. Anatomical variations can be divided in structural abnormalities, (increased) pneumatization and supplementary openings. Most anatomical variations are equally found in control and sinusitis patients. The anatomical variations which are most commonly associated with sinus pathology are septal deviations, true conchae bullosae and supplementary maxillary ostia but the latter one only when recycling is present. The knowledge of anatomical variations is most important in the surgical management and specifically in the prevention of complications.

Evaluation of hepatic arterial anatomy by multidetector computed tomographic angiography in living donor liver transplantation.

PubMed

Keles, Papatya; Yuce, Ihsan; Keles, Sait; Kantarci, Mecit

2016-06-01

The aim of this study was to define the different courses and percentages of hepatic artery that were detected during preoperative evaluation of living liver donors by multidetector computed tomographic angiography (MDCTA). We evaluated 150 donors before hepatic transplantation. All of the donors were evaluated by multislice CT scan with 256 detectors. For each patient, arterial, portal and venous phase images were obtained. The hepatic arterial variations were evaluated by the same radiologist according to Michels' classification. Common hepatic arterial anatomy (type I) was observed in 95 donors (63.3%). Other arterial variations were determined in the remaining 55 donors (36.6%). The second common variation was type XI which did not match with the description of Michels' classification variation in 15 donors (10%). The remaining variations described in Michels' classification were seen at lower rates. Type VII or X variation was not seen. MDCTA is a useful method to identify the blood supply of the liver before the liver transplantations, and surgeons can make their plan on the basis of CT data.

A global reference for human genetic variation

PubMed Central

2016-01-01

The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes >99% of SNP variants with a frequency of >1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies. PMID:26432245

[Angiographic evaluation of branching pattern and anatomy of the aortic arch].

PubMed

Ergun, Onur; Tatar, İdil Güneş; Birgi, Erdem; Durmaz, Hasan Ali; Akçalar, Seray; Kurt, Aydın; Hekimoğlu, Baki

2015-04-01

The study aimed to investigate anatomical variations in branching pattern and anatomy of the aortic arch, and the prevalence of each type. Between September 2011 and November 2013, angiographic studies of 270 patients (144 male, 126 female) were analyzed retrospectively for variations in branching pattern and anatomy of the aortic arch. Patient mean age was 59.8 years (range, 13-88). Branching variations were found and divided into subtypes. Patients were also classified according to arch anatomy. Incidence of variations and types of aortic arch were statistically analysed. Analysis of the 270 patients revealed six types of branching pattern. Type I, classical pattern arch with three branches (TB, LCC, LS), was observed in 198 cases (73.3%). Type II (bovine arch), the most commonly observed variation, in which LCC originates from TB, was observed in 58 cases (21.5%). Type III, in which the left vertebral artery arises from the arch, was seen in seven cases (2.6%). Type IV, a combination of types II and III, was observed in three cases (1.1%). Type V, common origin of common carotids, LS and aberrant RS, was found in three cases (1.1%). Type VI (avian type), arch with only two branches, was observed in one case (0.4%). When patients were classified according to aortic arch anatomy, Type 1, Type 2 and Type 3 were observed in 195, 40 and 35 patients respectively. Knowledge of the variations and anatomy of the aortic arch is essential during interventional procedures and neck-thorax surgery.

Research progress in the genetics of hyperuricaemia and gout.

PubMed

Zheng, Min; Ma, Jun-wu

2016-04-01

Gout is one of the most common inflammatory arthritis caused by hyperuricaemia, which is affected by both genetic factors and environmental factors. Early researches show that a few of rare monogenic mutations, such as PRPS1 and HPRT1 mutations, lead to abnormal purine anabolism and then cause hyperuricaemia and gout. In recent years, genome-wide association studies (GWAS) have identified dozens of susceptibility loci and/or candidate genes associated with hyperuricemia and gout. Loss-of-function mutations in SLC2A9, SLC22A11, and SLC22A12 cause hereditary hypouricaemia, while their overexpression may increase the reabsorption of uric acid. In contrast, loss-of-function mutations in ABCG2, SLC17A1, and SLC17A3 cause urate underexcretion of renal and intestinal. These variations leading to blood uric acid excretion disorder (excess reabsorption and underexcretion) are the main genetic factors affecting hyperuicemia and gout. Moreover, to some degree, inhibins-activins growth factor system, transcription factors, cytoskeleton and gene-environment interaction can also affect the level of blood uric acid. In addition, two risk genes, RFX3 and KCNQ1, which might impair immune response and lead to functional deficiency of beta cell were recently discovered to influence hyperuiceamia and gout in Han Chinese. This paper systematically reviews genetic studies on hyperuricaemia and gout to improve our understanding of pathogenesis of hyperuricaemia and gout.

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes.

PubMed

Tiosano, Dov; Audi, Laura; Climer, Sharlee; Zhang, Weixiong; Templeton, Alan R; Fernández-Cancio, Monica; Gershoni-Baruch, Ruth; Sánchez-Muro, José Miguel; El Kholy, Mohamed; Hochberg, Zèev

2016-05-03

The well-documented latitudinal clines of genes affecting human skin color presumably arise from the need for protection from intense ultraviolet radiation (UVR) vs. the need to use UVR for vitamin D synthesis. Sampling 751 subjects from a broad range of latitudes and skin colors, we investigated possible multilocus correlated adaptation of skin color genes with the vitamin D receptor gene (VDR), using a vector correlation metric and network method called BlocBuster. We discovered two multilocus networks involving VDR promoter and skin color genes that display strong latitudinal clines as multilocus networks, even though many of their single gene components do not. Considered one by one, the VDR components of these networks show diverse patterns: no cline, a weak declining latitudinal cline outside of Africa, and a strong in- vs. out-of-Africa frequency pattern. We confirmed these results with independent data from HapMap. Standard linkage disequilibrium analyses did not detect these networks. We applied BlocBuster across the entire genome, showing that our networks are significant outliers for interchromosomal disequilibrium that overlap with environmental variation relevant to the genes' functions. These results suggest that these multilocus correlations most likely arose from a combination of parallel selective responses to a common environmental variable and coadaptation, given the known Mendelian epistasis among VDR and the skin color genes. Copyright © 2016 Tiosano et al.

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes

PubMed Central

Tiosano, Dov; Audi, Laura; Climer, Sharlee; Zhang, Weixiong; Templeton, Alan R.; Fernández-Cancio, Monica; Gershoni-Baruch, Ruth; Sánchez-Muro, José Miguel; El Kholy, Mohamed; Hochberg, Zèev

2016-01-01

The well-documented latitudinal clines of genes affecting human skin color presumably arise from the need for protection from intense ultraviolet radiation (UVR) vs. the need to use UVR for vitamin D synthesis. Sampling 751 subjects from a broad range of latitudes and skin colors, we investigated possible multilocus correlated adaptation of skin color genes with the vitamin D receptor gene (VDR), using a vector correlation metric and network method called BlocBuster. We discovered two multilocus networks involving VDR promoter and skin color genes that display strong latitudinal clines as multilocus networks, even though many of their single gene components do not. Considered one by one, the VDR components of these networks show diverse patterns: no cline, a weak declining latitudinal cline outside of Africa, and a strong in- vs. out-of-Africa frequency pattern. We confirmed these results with independent data from HapMap. Standard linkage disequilibrium analyses did not detect these networks. We applied BlocBuster across the entire genome, showing that our networks are significant outliers for interchromosomal disequilibrium that overlap with environmental variation relevant to the genes’ functions. These results suggest that these multilocus correlations most likely arose from a combination of parallel selective responses to a common environmental variable and coadaptation, given the known Mendelian epistasis among VDR and the skin color genes. PMID:26921301

Meta-analysis of sex-specific genome-wide association studies.

PubMed

Magi, Reedik; Lindgren, Cecilia M; Morris, Andrew P

2010-12-01

Despite the success of genome-wide association studies, much of the genetic contribution to complex human traits is still unexplained. One potential source of genetic variation that may contribute to this "missing heritability" is that which differs in magnitude and/or direction between males and females, which could result from sexual dimorphism in gene expression. Such sex-differentiated effects are common in model organisms, and are becoming increasingly evident in human complex traits through large-scale male- and female-specific meta-analyses. In this article, we review the methodology for meta-analysis of sex-specific genome-wide association studies, and propose a sex-differentiated test of association with quantitative or dichotomous traits, which allows for heterogeneity of allelic effects between males and females. We perform detailed simulations to compare the power of the proposed sex-differentiated meta-analysis with the more traditional "sex-combined" approach, which is ambivalent to gender. The results of this study highlight only a small loss in power for the sex-differentiated meta-analysis when the allelic effects of the causal variant are the same in males and females. However, over a range of models of heterogeneity in allelic effects between genders, our sex-differentiated meta-analysis strategy offers substantial gains in power, and thus has the potential to discover novel loci contributing effects to complex human traits with existing genome-wide association data. © 2010 Wiley-Liss, Inc.

SZGR 2.0: a one-stop shop of schizophrenia candidate genes.

PubMed

Jia, Peilin; Han, Guangchun; Zhao, Junfei; Lu, Pinyi; Zhao, Zhongming

2017-01-04

SZGR 2.0 is a comprehensive resource of candidate variants and genes for schizophrenia, covering genetic, epigenetic, transcriptomic, translational and many other types of evidence. By systematic review and curation of multiple lines of evidence, we included almost all variants and genes that have ever been reported to be associated with schizophrenia. In particular, we collected ∼4200 common variants reported in genome-wide association studies, ∼1000 de novo mutations discovered by large-scale sequencing of family samples, 215 genes spanning rare and replication copy number variations, 99 genes overlapping with linkage regions, 240 differentially expressed genes, 4651 differentially methylated genes and 49 genes as antipsychotic drug targets. To facilitate interpretation, we included various functional annotation data, especially brain eQTL, methylation QTL, brain expression featured in deep categorization of brain areas and developmental stages and brain-specific promoter and enhancer annotations. Furthermore, we conducted cross-study, cross-data type and integrative analyses of the multidimensional data deposited in SZGR 2.0, and made the data and results available through a user-friendly interface. In summary, SZGR 2.0 provides a one-stop shop of schizophrenia variants and genes and their function and regulation, providing an important resource in the schizophrenia and other mental disease community. SZGR 2.0 is available at https://bioinfo.uth.edu/SZGR/. © The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.

Systematic review of tonsil surgery quality registers and introduction of the Nordic Tonsil Surgery Register Collaboration.

PubMed

Ruohoalho, Johanna; Østvoll, Eirik; Bratt, Mette; Bugten, Vegard; Bäck, Leif; Mäkitie, Antti; Ovesen, Therese; Stalfors, Joacim

2018-06-01

Surgical quality registers provide tools to measure and improve the outcome of surgery. International register collaboration creates an opportunity to assess and critically evaluate national practices, and increases the size of available datasets. Even though millions of yearly tonsillectomies and tonsillotomies are performed worldwide, clinical practices are variable and inconsistency of evidence regarding the best clinical practice exists. The need for quality improvement actions is evident. We aimed to systematically investigate the existing tonsil surgery quality registers found in the literature, and to provide a thorough presentation of the planned Nordic Tonsil Surgery Register Collaboration. A systematic literature search of MEDLINE and EMBASE databases (from January 1990 to December 2016) was conducted to identify registers, databases, quality improvement programs or comprehensive audit programs addressing tonsil surgery. We identified two active registers and three completed audit programs focusing on tonsil surgery quality registration. Recorded variables were fairly similar, but considerable variation in coverage, number of operations included and length of time period for inclusion was discovered. Considering tonsillectomies and tonsillotomies being among the most commonly performed surgical procedures in otorhinolaryngology, it is surprising that only two active registers could be identified. We present a Nordic Tonsil Surgery Register Collaboration-an international tonsil surgery quality register project aiming to provide accurate benchmarks and enhance the quality of tonsil surgery in Denmark, Finland, Norway and Sweden.

Allele frequency distribution of 1691G >A F5 (which confers Factor V Leiden) across Europe, including Slavic populations.

PubMed

Clark, Jeremy S C; Adler, Grażyna; Salkic, Nermin N; Ciechanowicz, Andrzej

2013-11-01

The allele 1691A F5, conferring Factor V Leiden, is a common risk factor in venous thromboembolism. The frequency distribution for this allele in Western Europe has been well documented; but here data from Central, Eastern and South-Eastern Europe has been included. In order to assess the significance of the collated data, a chi-squared test was applied, and Tukey tests and z-tests with Bonferroni correction were compared. A distribution with a North-Southeast band of high frequency of the 1691A F5 allele was discovered with a pocket including some Southern Slavic populations with low frequency. European countries/regions can be arbitrarily delimited into low (group 1, <2.8 %, mean 1.9 % 1691A F5 allele) or high (group 2, ≥2.8 %, mean 4.0 %) frequency groups, with many significant differences between groups, but only one intra-group difference (the Tukey test is suggested to be superior to the z-tests). In Europe a North-Southeast band of 1691A F5 high frequency has been found, clarified by inclusion of data from Central, Eastern and South-Eastern Europe, which surrounds a pocket of low frequency in the Balkans which could possibly be explained by Slavic migration. There seem to be no indications of variation in environmental selection due to geographical location.

POEM: Identifying Joint Additive Effects on Regulatory Circuits.

PubMed

Botzman, Maya; Nachshon, Aharon; Brodt, Avital; Gat-Viks, Irit

2016-01-01

Expression Quantitative Trait Locus (eQTL) mapping tackles the problem of identifying variation in DNA sequence that have an effect on the transcriptional regulatory network. Major computational efforts are aimed at characterizing the joint effects of several eQTLs acting in concert to govern the expression of the same genes. Yet, progress toward a comprehensive prediction of such joint effects is limited. For example, existing eQTL methods commonly discover interacting loci affecting the expression levels of a module of co-regulated genes. Such "modularization" approaches, however, are focused on epistatic relations and thus have limited utility for the case of additive (non-epistatic) effects. Here we present POEM (Pairwise effect On Expression Modules), a methodology for identifying pairwise eQTL effects on gene modules. POEM is specifically designed to achieve high performance in the case of additive joint effects. We applied POEM to transcription profiles measured in bone marrow-derived dendritic cells across a population of genotyped mice. Our study reveals widespread additive, trans-acting pairwise effects on gene modules, characterizes their organizational principles, and highlights high-order interconnections between modules within the immune signaling network. These analyses elucidate the central role of additive pairwise effect in regulatory circuits, and provide computational tools for future investigations into the interplay between eQTLs. The software described in this article is available at csgi.tau.ac.il/POEM/.

POEM: Identifying Joint Additive Effects on Regulatory Circuits

PubMed Central

Botzman, Maya; Nachshon, Aharon; Brodt, Avital; Gat-Viks, Irit

2016-01-01

Motivation: Expression Quantitative Trait Locus (eQTL) mapping tackles the problem of identifying variation in DNA sequence that have an effect on the transcriptional regulatory network. Major computational efforts are aimed at characterizing the joint effects of several eQTLs acting in concert to govern the expression of the same genes. Yet, progress toward a comprehensive prediction of such joint effects is limited. For example, existing eQTL methods commonly discover interacting loci affecting the expression levels of a module of co-regulated genes. Such “modularization” approaches, however, are focused on epistatic relations and thus have limited utility for the case of additive (non-epistatic) effects. Results: Here we present POEM (Pairwise effect On Expression Modules), a methodology for identifying pairwise eQTL effects on gene modules. POEM is specifically designed to achieve high performance in the case of additive joint effects. We applied POEM to transcription profiles measured in bone marrow-derived dendritic cells across a population of genotyped mice. Our study reveals widespread additive, trans-acting pairwise effects on gene modules, characterizes their organizational principles, and highlights high-order interconnections between modules within the immune signaling network. These analyses elucidate the central role of additive pairwise effect in regulatory circuits, and provide computational tools for future investigations into the interplay between eQTLs. Availability: The software described in this article is available at csgi.tau.ac.il/POEM/. PMID:27148351

Soya bean Gα proteins with distinct biochemical properties exhibit differential ability to complement Saccharomyces cerevisiae gpa1 mutant.

PubMed

Roy Choudhury, Swarup; Wang, Yuqi; Pandey, Sona

2014-07-01

Signalling pathways mediated by heterotrimeric G-proteins are common to all eukaryotes. Plants have a limited number of each of the G-protein subunits, with the most elaborate G-protein network discovered so far in soya bean (Glycine max, also known as soybean) which has four Gα, four Gβ and ten Gγ proteins. Biochemical characterization of Gα proteins from plants suggests significant variation in their properties compared with the well-characterized non-plant proteins. Furthermore, the four soya bean Gα (GmGα) proteins exhibit distinct biochemical activities among themselves, but the extent to which such biochemical differences contribute to their in vivo function is also not known. We used the yeast gpa1 mutant which displays constitutive signalling and growth arrest in the pheromone-response pathway as an in vivo model to evaluate the effect of distinct biochemical activities of GmGα proteins. We showed that specific GmGα proteins can be activated during pheromone-dependent receptor-mediated signalling in yeast and they display different strengths towards complementation of yeast gpa1 phenotypes. We also identified amino acids that are responsible for differential complementation abilities of specific Gα proteins. These data establish that specific plant Gα proteins are functional in the receptor-mediated pheromone-response pathway in yeast and that the subtle biochemical differences in their activity are physiologically relevant.

AN EXTENDED AND MORE SENSITIVE SEARCH FOR PERIODICITIES IN ROSSI X-RAY TIMING EXPLORER/ALL-SKY MONITOR X-RAY LIGHT CURVES

DOE Office of Scientific and Technical Information (OSTI.GOV)

Levine, Alan M.; Bradt, Hale V.; Chakrabarty, Deepto

2011-09-01

We present the results of a systematic search in {approx}14 years of Rossi X-ray Timing Explorer All-Sky Monitor (ASM) data for evidence of periodicities. Two variations of the commonly used Fourier analysis search method have been employed to significantly improve upon the sensitivity achieved by Wen et al. in 2006, who also searched for periodicities in ASM data. In addition, the present search is comprehensive in terms of sources studied and frequency range covered, and has yielded the detection of the signatures of the orbital periods of eight low-mass X-ray binary systems and of ten high-mass X-ray binaries not listedmore » in the tables of Wen et al. Orbital periods, epochs, signal amplitudes, modulation fractions, and folded light curves are given for each of these systems. Seven of the orbital periods are the most precise reported to date. In the course of this work, the 18.545 day orbital period of IGR J18483-0311 was co-discovered, and the first detections in X-rays were made of the {approx}3.9 day orbital period of LMC X-1 and the {approx}3.79 hr orbital period of 4U 1636-536. The results inform future searches for orbital and other periodicities in X-ray binaries.« less

Analysis of functional polymorphisms in three synaptic plasticity-related genes (BDNF, COMT AND UCHL1) in Alzheimer's disease in Colombia.

PubMed

Forero, Diego A; Benítez, Bruno; Arboleda, Gonzalo; Yunis, Juan J; Pardo, Rodrigo; Arboleda, Humberto

2006-07-01

In recent years, it has been proposed that synaptic dysfunction may be an important etiological factor for Alzheimer's disease (AD). This hypothesis has important implications for the analysis of AD genetic risk in case-control studies. In the present work, we analyzed common functional polymorphisms in three synaptic plasticity-related genes (brain-derived neurotrophic factor, BDNF Val66Met; catechol-O-methyl transferase, COMT Val158; ubiquitin carboxyl-terminal hydroxylase, UCHL1 S18Y) in a sample of 102 AD cases and 168 age and sex matched controls living in Bogotá, Colombia. There was not association between UCHL1 polymorphism and AD in our sample. We have found an initial association with BDNF polymorphism in familial cases and with COMT polymorphism in male and sporadic patients. These initial associations were lost after Bonferroni correction for multiple testing. Unadjusted results may be compatible with the expected functional effect of variations in these genes on pathological memory and cognitive dysfunction, as has been implicated in animal and cell models and also from neuropsychological analysis of normal subjects carriers of the AD associated genotypes. An exploration of functional variants in these and in other synaptic plasticity-related genes (a synaptogenomics approach) in independent larger samples will be important to discover new genes associated with AD.

Extendable supervised dictionary learning for exploring diverse and concurrent brain activities in task-based fMRI.

PubMed

Zhao, Shijie; Han, Junwei; Hu, Xintao; Jiang, Xi; Lv, Jinglei; Zhang, Tuo; Zhang, Shu; Guo, Lei; Liu, Tianming

2018-06-01

Recently, a growing body of studies have demonstrated the simultaneous existence of diverse brain activities, e.g., task-evoked dominant response activities, delayed response activities and intrinsic brain activities, under specific task conditions. However, current dominant task-based functional magnetic resonance imaging (tfMRI) analysis approach, i.e., the general linear model (GLM), might have difficulty in discovering those diverse and concurrent brain responses sufficiently. This subtraction-based model-driven approach focuses on the brain activities evoked directly from the task paradigm, thus likely overlooks other possible concurrent brain activities evoked during the information processing. To deal with this problem, in this paper, we propose a novel hybrid framework, called extendable supervised dictionary learning (E-SDL), to explore diverse and concurrent brain activities under task conditions. A critical difference between E-SDL framework and previous methods is that we systematically extend the basic task paradigm regressor into meaningful regressor groups to account for possible regressor variation during the information processing procedure in the brain. Applications of the proposed framework on five independent and publicly available tfMRI datasets from human connectome project (HCP) simultaneously revealed more meaningful group-wise consistent task-evoked networks and common intrinsic connectivity networks (ICNs). These results demonstrate the advantage of the proposed framework in identifying the diversity of concurrent brain activities in tfMRI datasets.

Evolutionary ecology of telomeres: a review.

PubMed

Olsson, Mats; Wapstra, Erik; Friesen, Christopher R

2018-06-01

Telomere-induced selection could take place if telomere-associated disease risk shortens reproductive life span and differently reduces relative fitness among individuals. Some of these diseases first appear before reproductive senescence and could thus influence ongoing selection. We ask whether we can estimate the components of the breeder's equation for telomeres, in which the response to selection (R, by definition "evolution") is the product of ongoing selection (S) and heritability (h 2 ). However, telomere inheritance is a conundrum: in quantitative genetics, traits can usually be allocated to categories with relatively high or low heritability, depending on their association with relative fitness. Telomere traits, however, show wide variation in heritability from zero to one, across taxa, gender, ethnicity, age, and disease status. In spite of this, there is divergence in telomere length among populations, supporting past and ongoing telomere evolution. Rates of telomere attrition and elongation vary among taxa with some, but not complete, taxonomic coherence. For example, telomerase is commonly referred to as "restricted to the germ line in mammals," but inbred mice and beavers have telomerase upregulation in somatic tissue, as do many ectotherms. These observations provoke a simplistic understanding of telomere evolutionary biology-clearly much is yet to be discovered. © 2017 The Authors. Annals of the New York Academy of Sciences published by Wiley Periodicals, Inc. on behalf of The New York Academy of Sciences.

Genomic Patterns of Pathogen Evolution Revealed by Comparison of Burkholderia pseudomallei, the Causative Agent of Melioidosis, to Avirulent Burkholderia thailandensis

DTIC Science & Technology

2006-05-26

are four polyketide synthase (PKS) and nonribos- omal pepeide synthase (NRPS) clusters involved in the production and regulation of secondary...specific genomic regions, we derived molecular explanations for previously-known metabolic differences, discovered potentially new ones , and found that...Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium

Development of Technologies for Early Detection and Stratification of Breast Cancer

DTIC Science & Technology

2015-10-01

fatal disease progression, or in the cases of over-treatment, unnecessary physical and emotional trauma.4 ELISA, the most common immunoassay for...laboratory to discover new biomarkers that meet these requirements within serum so that a simple blood test can be implemented. We are also working to...microspheres and tested first on standard samples. Assay performance characteristics will be determined to ascertain that they will address