Sample records for underlying quantitative variation

  1. Quantitative Resistance: More Than Just Perception of a Pathogen

    PubMed Central

    2017-01-01

    Molecular plant pathology has focused on studying large-effect qualitative resistance loci that predominantly function in detecting pathogens and/or transmitting signals resulting from pathogen detection. By contrast, less is known about quantitative resistance loci, particularly the molecular mechanisms controlling variation in quantitative resistance. Recent studies have provided insight into these mechanisms, showing that genetic variation at hundreds of causal genes may underpin quantitative resistance. Loci controlling quantitative resistance contain some of the same causal genes that mediate qualitative resistance, but the predominant mechanisms of quantitative resistance extend beyond pathogen recognition. Indeed, most causal genes for quantitative resistance encode specific defense-related outputs such as strengthening of the cell wall or defense compound biosynthesis. Extending previous work on qualitative resistance to focus on the mechanisms of quantitative resistance, such as the link between perception of microbe-associated molecular patterns and growth, has shown that the mechanisms underlying these defense outputs are also highly polygenic. Studies that include genetic variation in the pathogen have begun to highlight a potential need to rethink how the field considers broad-spectrum resistance and how it is affected by genetic variation within pathogen species and between pathogen species. These studies are broadening our understanding of quantitative resistance and highlighting the potentially vast scale of the genetic basis of quantitative resistance. PMID:28302676

  2. Establishing Quantitative Within-Subject Confidence Limits For Clinical Stereoroentgenographs

    NASA Astrophysics Data System (ADS)

    Korn, Edward L.; Baumrind, Sheldon; Chafetz, Neil; Curry, Sean; Moffitt, Francis

    1983-07-01

    It is now quite clear that under ideal conditions, discrete points can be located on x-ray films with standard deviations of less than 50 i. However, under routine clinical conditions, such considerations as individual variation in anatomy, movement of the subject between exposures, and variations in image quality combine to produce considerable reductions in the confidence which can be placed in quantitative assessments made from stereoroentgenographic films. This paper discusses some considerations involved in designing mathematical models in such a way as to optimize the use of imperfect data in answering specific clinical questions.

  3. Beyond Punnett squares: Student word association and explanations of phenotypic variation through an integrative quantitative genetics unit investigating anthocyanin inheritance and expression in Brassica rapa Fast plants.

    PubMed

    Batzli, Janet M; Smith, Amber R; Williams, Paul H; McGee, Seth A; Dósa, Katalin; Pfammatter, Jesse

    2014-01-01

    Genetics instruction in introductory biology is often confined to Mendelian genetics and avoids the complexities of variation in quantitative traits. Given the driving question "What determines variation in phenotype (Pv)? (Pv=Genotypic variation Gv + environmental variation Ev)," we developed a 4-wk unit for an inquiry-based laboratory course focused on the inheritance and expression of a quantitative trait in varying environments. We utilized Brassica rapa Fast Plants as a model organism to study variation in the phenotype anthocyanin pigment intensity. As an initial curriculum assessment, we used free word association to examine students' cognitive structures before and after the unit and explanations in students' final research posters with particular focus on variation (Pv = Gv + Ev). Comparison of pre- and postunit word frequency revealed a shift in words and a pattern of co-occurring concepts indicative of change in cognitive structure, with particular focus on "variation" as a proposed threshold concept and primary goal for students' explanations. Given review of 53 posters, we found ∼50% of students capable of intermediate to high-level explanations combining both Gv and Ev influence on expression of anthocyanin intensity (Pv). While far from "plug and play," this conceptually rich, inquiry-based unit holds promise for effective integration of quantitative and Mendelian genetics. © 2014 J. M. Batzli 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).

  4. Quantitative Resistance: More Than Just Perception of a Pathogen.

    PubMed

    Corwin, Jason A; Kliebenstein, Daniel J

    2017-04-01

    Molecular plant pathology has focused on studying large-effect qualitative resistance loci that predominantly function in detecting pathogens and/or transmitting signals resulting from pathogen detection. By contrast, less is known about quantitative resistance loci, particularly the molecular mechanisms controlling variation in quantitative resistance. Recent studies have provided insight into these mechanisms, showing that genetic variation at hundreds of causal genes may underpin quantitative resistance. Loci controlling quantitative resistance contain some of the same causal genes that mediate qualitative resistance, but the predominant mechanisms of quantitative resistance extend beyond pathogen recognition. Indeed, most causal genes for quantitative resistance encode specific defense-related outputs such as strengthening of the cell wall or defense compound biosynthesis. Extending previous work on qualitative resistance to focus on the mechanisms of quantitative resistance, such as the link between perception of microbe-associated molecular patterns and growth, has shown that the mechanisms underlying these defense outputs are also highly polygenic. Studies that include genetic variation in the pathogen have begun to highlight a potential need to rethink how the field considers broad-spectrum resistance and how it is affected by genetic variation within pathogen species and between pathogen species. These studies are broadening our understanding of quantitative resistance and highlighting the potentially vast scale of the genetic basis of quantitative resistance. © 2017 American Society of Plant Biologists. All rights reserved.

  5. Divergent selection along climatic gradients in a rare central European endemic species, Saxifraga sponhemica

    PubMed Central

    Walisch, Tania J.; Colling, Guy; Bodenseh, Melanie; Matthies, Diethart

    2015-01-01

    Background and Aims The effects of habitat fragmentation on quantitative genetic variation in plant populations are still poorly known. Saxifraga sponhemica is a rare endemic of Central Europe with a disjunct distribution, and a stable and specialized habitat of treeless screes and cliffs. This study therefore used S. sponhemica as a model species to compare quantitative and molecular variation in order to explore (1) the relative importance of drift and selection in shaping the distribution of quantitative genetic variation along climatic gradients; (2) the relationship between plant fitness, quantitative genetic variation, molecular genetic variation and population size; and (3) the relationship between the differentiation of a trait among populations and its evolvability. Methods Genetic variation within and among 22 populations from the whole distribution area of S. sponhemica was studied using RAPD (random amplified polymorphic DNA) markers, and climatic variables were obtained for each site. Seeds were collected from each population and germinated, and seedlings were transplanted into a common garden for determination of variation in plant traits. Key Results In contrast to previous results from rare plant species, strong evidence was found for divergent selection. Most population trait means of S. sponhemica were significantly related to climate gradients, indicating adaptation. Quantitative genetic differentiation increased with geographical distance, even when neutral molecular divergence was controlled for, and QST exceeded FST for some traits. The evolvability of traits was negatively correlated with the degree of differentiation among populations (QST), i.e. traits under strong selection showed little genetic variation within populations. The evolutionary potential of a population was not related to its size, the performance of the population or its neutral genetic diversity. However, performance in the common garden was lower for plants from populations with reduced molecular genetic variation, suggesting inbreeding depression due to genetic erosion. Conclusions The findings suggest that studies of molecular and quantitative genetic variation may provide complementary insights important for the conservation of rare species. The strong differentiation of quantitative traits among populations shows that selection can be an important force for structuring variation in evolutionarily important traits even for rare endemic species restricted to very specific habitats. PMID:25862244

  6. Dominant Epistasis Between Two Quantitative Trait Loci Governing Sporulation Efficiency in Yeast Saccharomyces cerevisiae

    PubMed Central

    Bergman, Juraj; Mitrikeski, Petar T.

    2015-01-01

    Summary Sporulation efficiency in the yeast Saccharomyces cerevisiae is a well-established model for studying quantitative traits. A variety of genes and nucleotides causing different sporulation efficiencies in laboratory, as well as in wild strains, has already been extensively characterised (mainly by reciprocal hemizygosity analysis and nucleotide exchange methods). We applied a different strategy in order to analyze the variation in sporulation efficiency of laboratory yeast strains. Coupling classical quantitative genetic analysis with simulations of phenotypic distributions (a method we call phenotype modelling) enabled us to obtain a detailed picture of the quantitative trait loci (QTLs) relationships underlying the phenotypic variation of this trait. Using this approach, we were able to uncover a dominant epistatic inheritance of loci governing the phenotype. Moreover, a molecular analysis of known causative quantitative trait genes and nucleotides allowed for the detection of novel alleles, potentially responsible for the observed phenotypic variation. Based on the molecular data, we hypothesise that the observed dominant epistatic relationship could be caused by the interaction of multiple quantitative trait nucleotides distributed across a 60--kb QTL region located on chromosome XIV and the RME1 locus on chromosome VII. Furthermore, we propose a model of molecular pathways which possibly underlie the phenotypic variation of this trait. PMID:27904371

  7. Genetic variation maintained in multilocus models of additive quantitative traits under stabilizing selection.

    PubMed Central

    Bürger, R; Gimelfarb, A

    1999-01-01

    Stabilizing selection for an intermediate optimum is generally considered to deplete genetic variation in quantitative traits. However, conflicting results from various types of models have been obtained. While classical analyses assuming a large number of independent additive loci with individually small effects indicated that no genetic variation is preserved under stabilizing selection, several analyses of two-locus models showed the contrary. We perform a complete analysis of a generalization of Wright's two-locus quadratic-optimum model and investigate numerically the ability of quadratic stabilizing selection to maintain genetic variation in additive quantitative traits controlled by up to five loci. A statistical approach is employed by choosing randomly 4000 parameter sets (allelic effects, recombination rates, and strength of selection) for a given number of loci. For each parameter set we iterate the recursion equations that describe the dynamics of gamete frequencies starting from 20 randomly chosen initial conditions until an equilibrium is reached, record the quantities of interest, and calculate their corresponding mean values. As the number of loci increases from two to five, the fraction of the genome expected to be polymorphic declines surprisingly rapidly, and the loci that are polymorphic increasingly are those with small effects on the trait. As a result, the genetic variance expected to be maintained under stabilizing selection decreases very rapidly with increased number of loci. The equilibrium structure expected under stabilizing selection on an additive trait differs markedly from that expected under selection with no constraints on genotypic fitness values. The expected genetic variance, the expected polymorphic fraction of the genome, as well as other quantities of interest, are only weakly dependent on the selection intensity and the level of recombination. PMID:10353920

  8. Genetic dissection of the maize (Zea mays L.) MAMP response.

    PubMed

    Zhang, Xinye; Valdés-López, Oswaldo; Arellano, Consuelo; Stacey, Gary; Balint-Kurti, Peter

    2017-06-01

    Loci associated with variation in maize responses to two microbe-associated molecular patterns (MAMPs) were identified. MAMP responses were correlated. No relationship between MAMP responses and quantitative disease resistance was identified. Microbe-associated molecular patterns (MAMPs) are highly conserved molecules commonly found in microbes which can be recognized by plant pattern recognition receptors. Recognition triggers a suite of responses including production of reactive oxygen species (ROS) and nitric oxide (NO) and expression changes of defense-related genes. In this study, we used two well-studied MAMPs (flg22 and chitooctaose) to challenge different maize lines to determine whether there was variation in the level of responses to these MAMPs, to dissect the genetic basis underlying that variation and to understand the relationship between MAMP response and quantitative disease resistance (QDR). Naturally occurring quantitative variation in ROS, NO production, and defense genes expression levels triggered by MAMPs was observed. A major quantitative traits locus (QTL) associated with variation in the ROS production response to both flg22 and chitooctaose was identified on chromosome 2 in a recombinant inbred line (RIL) population derived from the maize inbred lines B73 and CML228. Minor QTL associated with variation in the flg22 ROS response was identified on chromosomes 1 and 4. Comparison of these results with data previously obtained for variation in QDR and the defense response in the same RIL population did not provide any evidence for a common genetic basis controlling variation in these traits.

  9. Quantitative trait loci analyses and RNA-seq identify genes affecting stress response in rainbow trout

    USDA-ARS?s Scientific Manuscript database

    Genomic analyses have the potential to impact aquaculture production traits by identifying markers as proxies for traits which are expensive or difficult to measure and characterizing genetic variation and biochemical mechanisms underlying phenotypic variation. One such trait is the response of rai...

  10. Making quantitative morphological variation from basic developmental processes: where are we? The case of the Drosophila wing

    PubMed Central

    Alexis, Matamoro-Vidal; Isaac, Salazar-Ciudad; David, Houle

    2015-01-01

    One of the aims of evolutionary developmental biology is to discover the developmental origins of morphological variation. The discipline has mainly focused on qualitative morphological differences (e.g., presence or absence of a structure) between species. Studies addressing subtle, quantitative variation are less common. The Drosophila wing is a model for the study of development and evolution, making it suitable to investigate the developmental mechanisms underlying the subtle quantitative morphological variation observed in nature. Previous reviews have focused on the processes involved in wing differentiation, patterning and growth. Here, we investigate what is known about how the wing achieves its final shape, and what variation in development is capable of generating the variation in wing shape observed in nature. Three major developmental stages need to be considered: larval development, pupariation, and pupal development. The major cellular processes involved in the determination of tissue size and shape are cell proliferation, cell death, oriented cell division and oriented cell intercalation. We review how variation in temporal and spatial distribution of growth and transcription factors affects these cellular mechanisms, which in turn affects wing shape. We then discuss which aspects of the wing morphological variation are predictable on the basis of these mechanisms. PMID:25619644

  11. Caenorhabditis elegans vulval cell fate patterning

    NASA Astrophysics Data System (ADS)

    Félix, Marie-Anne

    2012-08-01

    The spatial patterning of three cell fates in a row of competent cells is exemplified by vulva development in the nematode Caenorhabditis elegans. The intercellular signaling network that underlies fate specification is well understood, yet quantitative aspects remain to be elucidated. Quantitative models of the network allow us to test the effect of parameter variation on the cell fate pattern output. Among the parameter sets that allow us to reach the wild-type pattern, two general developmental patterning mechanisms of the three fates can be found: sequential inductions and morphogen-based induction, the former being more robust to parameter variation. Experimentally, the vulval cell fate pattern is robust to stochastic and environmental challenges, and minor variants can be detected. The exception is the fate of the anterior cell, P3.p, which is sensitive to stochastic variation and spontaneous mutation, and is also evolving the fastest. Other vulval precursor cell fates can be affected by mutation, yet little natural variation can be found, suggesting stabilizing selection. Despite this fate pattern conservation, different Caenorhabditis species respond differently to perturbations of the system. In the quantitative models, different parameter sets can reconstitute their response to perturbation, suggesting that network variation among Caenorhabditis species may be quantitative. Network rewiring likely occurred at longer evolutionary scales.

  12. Robustness and flexibility in nematode vulva development.

    PubMed

    Félix, Marie-Anne; Barkoulas, Michalis

    2012-04-01

    The Caenorhabditis elegans vulva has served as a paradigm for how conserved developmental pathways, such as EGF-Ras-MAPK, Notch and Wnt signaling, participate in networks driving animal organogenesis. Here, we discuss an emerging direction in the field, which places vulva research in a quantitative and microevolutionary framework. The final vulval cell fate pattern is known to be robust to change, but only recently has the variation of vulval traits been measured under stochastic, environmental or genetic variation. Whereas the resulting cell fate pattern is invariant among rhabditid nematodes, recent studies indicate that the developmental system has accumulated cryptic variation, even among wild C. elegans isolates. Quantitative differences in the signaling network have emerged through experiments and modeling as the driving force behind cryptic variation in Caenorhabditis species. On a wider evolutionary scale, the establishment of new model species has informed about the presence of qualitative variation in vulval signaling pathways. Copyright © 2012 Elsevier Ltd. All rights reserved.

  13. The IQ Quantitative Trait Loci Project: A Critique.

    ERIC Educational Resources Information Center

    King, David

    1998-01-01

    Describes the IQ Quantitative Trait Loci (QTL) project, an attempt to identify genes underlying IQ score variations using maps from the Human Genome Project. The essay argues against funding the IQ QTL project because it will end the debates about the genetic basis of intelligence and may lead directly to eugenic programs of genetic testing. (SLD)

  14. Differential Regulation of Cryptic Genetic Variation Shapes the Genetic Interactome Underlying Complex Traits.

    PubMed

    Yadav, Anupama; Dhole, Kaustubh; Sinha, Himanshu

    2016-12-01

    Cryptic genetic variation (CGV) refers to genetic variants whose effects are buffered in most conditions but manifest phenotypically upon specific genetic and environmental perturbations. Despite having a central role in adaptation, contribution of CGV to regulation of quantitative traits is unclear. Instead, a relatively simplistic architecture of additive genetic loci is known to regulate phenotypic variation in most traits. In this paper, we investigate the regulation of CGV and its implication on the genetic architecture of quantitative traits at a genome-wide level. We use a previously published dataset of biparental recombinant population of Saccharomyces cerevisiae phenotyped in 34 diverse environments to perform single locus, two-locus, and covariance mapping. We identify loci that have independent additive effects as well as those which regulate the phenotypic manifestation of other genetic variants (variance QTL). We find that whereas additive genetic variance is predominant, a higher order genetic interaction network regulates variation in certain environments. Despite containing pleiotropic loci, with effects across environments, these genetic networks are highly environment specific. CGV is buffered under most allelic combinations of these networks and perturbed only in rare combinations resulting in high phenotypic variance. The presence of such environment specific genetic networks is the underlying cause of abundant gene–environment interactions. We demonstrate that overlaying identified molecular networks on such genetic networks can identify potential candidate genes and underlying mechanisms regulating phenotypic variation. Such an integrated approach applied to human disease datasets has the potential to improve the ability to predict disease predisposition and identify specific therapeutic targets.

  15. Differential Regulation of Cryptic Genetic Variation Shapes the Genetic Interactome Underlying Complex Traits

    PubMed Central

    Yadav, Anupama; Dhole, Kaustubh

    2016-01-01

    Cryptic genetic variation (CGV) refers to genetic variants whose effects are buffered in most conditions but manifest phenotypically upon specific genetic and environmental perturbations. Despite having a central role in adaptation, contribution of CGV to regulation of quantitative traits is unclear. Instead, a relatively simplistic architecture of additive genetic loci is known to regulate phenotypic variation in most traits. In this paper, we investigate the regulation of CGV and its implication on the genetic architecture of quantitative traits at a genome-wide level. We use a previously published dataset of biparental recombinant population of Saccharomyces cerevisiae phenotyped in 34 diverse environments to perform single locus, two-locus, and covariance mapping. We identify loci that have independent additive effects as well as those which regulate the phenotypic manifestation of other genetic variants (variance QTL). We find that whereas additive genetic variance is predominant, a higher order genetic interaction network regulates variation in certain environments. Despite containing pleiotropic loci, with effects across environments, these genetic networks are highly environment specific. CGV is buffered under most allelic combinations of these networks and perturbed only in rare combinations resulting in high phenotypic variance. The presence of such environment specific genetic networks is the underlying cause of abundant gene–environment interactions. We demonstrate that overlaying identified molecular networks on such genetic networks can identify potential candidate genes and underlying mechanisms regulating phenotypic variation. Such an integrated approach applied to human disease datasets has the potential to improve the ability to predict disease predisposition and identify specific therapeutic targets. PMID:28172852

  16. Cloning of DOG1, a quantitative trait locus controlling seed dormancy in Arabidopsis.

    PubMed

    Bentsink, Leónie; Jowett, Jemma; Hanhart, Corrie J; Koornneef, Maarten

    2006-11-07

    Genetic variation for seed dormancy in nature is a typical quantitative trait controlled by multiple loci on which environmental factors have a strong effect. Finding the genes underlying dormancy quantitative trait loci is a major scientific challenge, which also has relevance for agriculture and ecology. In this study we describe the identification of the DELAY OF GERMINATION 1 (DOG1) gene previously identified as a quantitative trait locus involved in the control of seed dormancy. This gene was isolated by a combination of positional cloning and mutant analysis and is absolutely required for the induction of seed dormancy. DOG1 is a member of a small gene family of unknown molecular function, with five members in Arabidopsis. The functional natural allelic variation present in Arabidopsis is caused by polymorphisms in the cis-regulatory region of the DOG1 gene and results in considerable expression differences between the DOG1 alleles of the accessions analyzed.

  17. Identifying the genes underlying quantitative traits: a rationale for the QTN programme.

    PubMed

    Lee, Young Wha; Gould, Billie A; Stinchcombe, John R

    2014-01-01

    The goal of identifying the genes or even nucleotides underlying quantitative and adaptive traits has been characterized as the 'QTN programme' and has recently come under severe criticism. Part of the reason for this criticism is that much of the QTN programme has asserted that finding the genes and nucleotides for adaptive and quantitative traits is a fundamental goal, without explaining why it is such a hallowed goal. Here we outline motivations for the QTN programme that offer general insight, regardless of whether QTNs are of large or small effect, and that aid our understanding of the mechanistic dynamics of adaptive evolution. We focus on five areas: (i) vertical integration of insight across different levels of biological organization, (ii) genetic parallelism and the role of pleiotropy in shaping evolutionary dynamics, (iii) understanding the forces maintaining genetic variation in populations, (iv) distinguishing between adaptation from standing variation and new mutation, and (v) the role of genomic architecture in facilitating adaptation. We argue that rather than abandoning the QTN programme, we should refocus our efforts on topics where molecular data will be the most effective for testing hypotheses about phenotypic evolution.

  18. Identifying the genes underlying quantitative traits: a rationale for the QTN programme

    PubMed Central

    Lee, Young Wha; Gould, Billie A.; Stinchcombe, John R.

    2014-01-01

    The goal of identifying the genes or even nucleotides underlying quantitative and adaptive traits has been characterized as the ‘QTN programme’ and has recently come under severe criticism. Part of the reason for this criticism is that much of the QTN programme has asserted that finding the genes and nucleotides for adaptive and quantitative traits is a fundamental goal, without explaining why it is such a hallowed goal. Here we outline motivations for the QTN programme that offer general insight, regardless of whether QTNs are of large or small effect, and that aid our understanding of the mechanistic dynamics of adaptive evolution. We focus on five areas: (i) vertical integration of insight across different levels of biological organization, (ii) genetic parallelism and the role of pleiotropy in shaping evolutionary dynamics, (iii) understanding the forces maintaining genetic variation in populations, (iv) distinguishing between adaptation from standing variation and new mutation, and (v) the role of genomic architecture in facilitating adaptation. We argue that rather than abandoning the QTN programme, we should refocus our efforts on topics where molecular data will be the most effective for testing hypotheses about phenotypic evolution. PMID:24790125

  19. Peculiar Features of Microstructure Formation and Microhardness Variations During Torsional Straining of Tantalum Specimens in Bridgman Anvils

    NASA Astrophysics Data System (ADS)

    Ditenberg, I. A.; Tymentsev, A. N.; Korznikov, A. V.

    2015-04-01

    Using the method of transmission electron microscopy, peculiar features of evolution of microstructure and variations in microhardness of Та are investigated under torsional loading in the Bridgman anvil as a function of plastic deformation at room temperature. A quantitative examination of grain and defect's structure of the material under study and the values of local internal stresses is performed in different loading stages. The mechanisms of formation of submicrocrystalline and nanostructured states are analyzed and so is the microstructure variation as a function of the defect-structure characteristics, strain level, and spacing from the axis of torsion.

  20. Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations

    PubMed Central

    Candille, Sophie I.; Absher, Devin M.; Beleza, Sandra; Bauchet, Marc; McEvoy, Brian; Garrison, Nanibaa’ A.; Li, Jun Z.; Myers, Richard M.; Barsh, Gregory S.; Tang, Hua; Shriver, Mark D.

    2012-01-01

    Pigmentation of the skin, hair, and eyes varies both within and between human populations. Identifying the genes and alleles underlying this variation has been the goal of many candidate gene and several genome-wide association studies (GWAS). Most GWAS for pigmentary traits to date have been based on subjective phenotypes using categorical scales. But skin, hair, and eye pigmentation vary continuously. Here, we seek to characterize quantitative variation in these traits objectively and accurately and to determine their genetic basis. Objective and quantitative measures of skin, hair, and eye color were made using reflectance or digital spectroscopy in Europeans from Ireland, Poland, Italy, and Portugal. A GWAS was conducted for the three quantitative pigmentation phenotypes in 176 women across 313,763 SNP loci, and replication of the most significant associations was attempted in a sample of 294 European men and women from the same countries. We find that the pigmentation phenotypes are highly stratified along axes of European genetic differentiation. The country of sampling explains approximately 35% of the variation in skin pigmentation, 31% of the variation in hair pigmentation, and 40% of the variation in eye pigmentation. All three quantitative phenotypes are correlated with each other. In our two-stage association study, we reproduce the association of rs1667394 at the OCA2/HERC2 locus with eye color but we do not identify new genetic determinants of skin and hair pigmentation supporting the lack of major genes affecting skin and hair color variation within Europe and suggesting that not only careful phenotyping but also larger cohorts are required to understand the genetic architecture of these complex quantitative traits. Interestingly, we also see that in each of these four populations, men are more lightly pigmented in the unexposed skin of the inner arm than women, a fact that is underappreciated and may vary across the world. PMID:23118974

  1. Genetic Architecture of Micro-Environmental Plasticity in Drosophila melanogaster.

    PubMed

    Morgante, Fabio; Sørensen, Peter; Sorensen, Daniel A; Maltecca, Christian; Mackay, Trudy F C

    2015-05-06

    Individuals of the same genotype do not have the same phenotype for quantitative traits when reared under common macro-environmental conditions, a phenomenon called micro-environmental plasticity. Genetic variation in micro-environmental plasticity is assumed in models of the evolution of phenotypic variance, and is important in applied breeding and personalized medicine. Here, we quantified genetic variation for micro-environmental plasticity for three quantitative traits in the inbred, sequenced lines of the Drosophila melanogaster Genetic Reference Panel. We found substantial genetic variation for micro-environmental plasticity for all traits, with broad sense heritabilities of the same magnitude or greater than those of trait means. Micro-environmental plasticity is not correlated with residual segregating variation, is trait-specific, and has genetic correlations with trait means ranging from zero to near unity. We identified several candidate genes associated with micro-environmental plasticity of startle response, including Drosophila Hsp90, setting the stage for future genetic dissection of this phenomenon.

  2. Cloning of quantitative trait genes from rice reveals conservation and divergence of photoperiod flowering pathways in Arabidopsis and rice

    PubMed Central

    Matsubara, Kazuki; Hori, Kiyosumi; Ogiso-Tanaka, Eri; Yano, Masahiro

    2014-01-01

    Flowering time in rice (Oryza sativa L.) is determined primarily by daylength (photoperiod), and natural variation in flowering time is due to quantitative trait loci involved in photoperiodic flowering. To date, genetic analysis of natural variants in rice flowering time has resulted in the positional cloning of at least 12 quantitative trait genes (QTGs), including our recently cloned QTGs, Hd17, and Hd16. The QTGs have been assigned to specific photoperiodic flowering pathways. Among them, 9 have homologs in the Arabidopsis genome, whereas it was evident that there are differences in the pathways between rice and Arabidopsis, such that the rice Ghd7–Ehd1–Hd3a/RFT1 pathway modulated by Hd16 is not present in Arabidopsis. In this review, we describe QTGs underlying natural variation in rice flowering time. Additionally, we discuss the implications of the variation in adaptive divergence and its importance in rice breeding. PMID:24860584

  3. Dissecting genetic architecture of startle response in Drosophila melanogaster using multi-omics information.

    PubMed

    Xue, Angli; Wang, Hongcheng; Zhu, Jun

    2017-09-28

    Startle behavior is important for survival, and abnormal startle responses are related to several neurological diseases. Drosophila melanogaster provides a powerful system to investigate the genetic underpinnings of variation in startle behavior. Since mechanically induced, startle responses and environmental conditions can be readily quantified and precisely controlled. The 156 wild-derived fully sequenced lines of the Drosophila Genetic Reference Panel (DGRP) were used to identify SNPs and transcripts associated with variation in startle behavior. The results validated highly significant effects of 33 quantitative trait SNPs (QTSs) and 81 quantitative trait transcripts (QTTs) directly associated with phenotypic variation of startle response. We also detected QTT variation controlled by 20 QTSs (tQTSs) and 73 transcripts (tQTTs). Association mapping based on genomic and transcriptomic data enabled us to construct a complex genetic network that underlies variation in startle behavior. Based on principles of evolutionary conservation, human orthologous genes could be superimposed on this network. This study provided both genetic and biological insights into the variation of startle response behavior of Drosophila melanogaster, and highlighted the importance of genetic network to understand the genetic architecture of complex traits.

  4. Metabolite profiling and quantitative genetics of natural variation for flavonoids in Arabidopsis

    PubMed Central

    Routaboul, Jean-Marc; Dubos, Christian; Beck, Gilles; Marquis, Catherine; Bidzinski, Przemyslaw; Loudet, Olivier; Lepiniec, Loïc

    2012-01-01

    Little is known about the range and the genetic bases of naturally occurring variation for flavonoids. Using Arabidopsis thaliana seed as a model, the flavonoid content of 41 accessions and two recombinant inbred line (RIL) sets derived from divergent accessions (Cvi-0×Col-0 and Bay-0×Shahdara) were analysed. These accessions and RILs showed mainly quantitative rather than qualitative changes. To dissect the genetic architecture underlying these differences, a quantitative trait locus (QTL) analysis was performed on the two segregating populations. Twenty-two flavonoid QTLs were detected that accounted for 11–64% of the observed trait variations, only one QTL being common to both RIL sets. Sixteen of these QTLs were confirmed and coarsely mapped using heterogeneous inbred families (HIFs). Three genes, namely TRANSPARENT TESTA (TT)7, TT15, and MYB12, were proposed to underlie their variations since the corresponding mutants and QTLs displayed similar specific flavonoid changes. Interestingly, most loci did not co-localize with any gene known to be involved in flavonoid metabolism. This latter result shows that novel functions have yet to be characterized and paves the way for their isolation. PMID:22442426

  5. Genetic dissection of growth, wood basic density and gene expression in interspecific backcrosses of Eucalyptus grandis and E. urophylla

    PubMed Central

    2012-01-01

    Background F1 hybrid clones of Eucalyptus grandis and E. urophylla are widely grown for pulp and paper production in tropical and subtropical regions. Volume growth and wood quality are priority objectives in Eucalyptus tree improvement. The molecular basis of quantitative variation and trait expression in eucalypt hybrids, however, remains largely unknown. The recent availability of a draft genome sequence (http://www.phytozome.net) and genome-wide genotyping platforms, combined with high levels of genetic variation and high linkage disequilibrium in hybrid crosses, greatly facilitate the detection of quantitative trait loci (QTLs) as well as underlying candidate genes for growth and wood property traits. In this study, we used Diversity Arrays Technology markers to assess the genetic architecture of volume growth (diameter at breast height, DBH) and wood basic density in four-year-old progeny of an interspecific backcross pedigree of E. grandis and E. urophylla. In addition, we used Illumina RNA-Seq expression profiling in the E. urophylla backcross family to identify cis- and trans-acting polymorphisms (eQTLs) affecting transcript abundance of genes underlying QTLs for wood basic density. Results A total of five QTLs for DBH and 12 for wood basic density were identified in the two backcross families. Individual QTLs for DBH and wood basic density explained 3.1 to 12.2% of phenotypic variation. Candidate genes underlying QTLs for wood basic density on linkage groups 8 and 9 were found to share trans-acting eQTLs located on linkage groups 4 and 10, which in turn coincided with QTLs for wood basic density suggesting that these QTLs represent segregating components of an underlying transcriptional network. Conclusion This is the first demonstration of the use of next-generation expression profiling to quantify transcript abundance in a segregating tree population and identify candidate genes potentially affecting wood property variation. The QTLs identified in this study provide a resource for identifying candidate genes and developing molecular markers for marker-assisted breeding of volume growth and wood basic density. Our results suggest that integrated analysis of transcript and trait variation in eucalypt hybrids can be used to dissect the molecular basis of quantitative variation in wood property traits. PMID:22817272

  6. Linearization improves the repeatability of quantitative dynamic contrast-enhanced MRI.

    PubMed

    Jones, Kyle M; Pagel, Mark D; Cárdenas-Rodríguez, Julio

    2018-04-01

    The purpose of this study was to compare the repeatabilities of the linear and nonlinear Tofts and reference region models (RRM) for dynamic contrast-enhanced MRI (DCE-MRI). Simulated and experimental DCE-MRI data from 12 rats with a flank tumor of C6 glioma acquired over three consecutive days were analyzed using four quantitative and semi-quantitative DCE-MRI metrics. The quantitative methods used were: 1) linear Tofts model (LTM), 2) non-linear Tofts model (NTM), 3) linear RRM (LRRM), and 4) non-linear RRM (NRRM). The following semi-quantitative metrics were used: 1) maximum enhancement ratio (MER), 2) time to peak (TTP), 3) initial area under the curve (iauc64), and 4) slope. LTM and NTM were used to estimate K trans , while LRRM and NRRM were used to estimate K trans relative to muscle (R Ktrans ). Repeatability was assessed by calculating the within-subject coefficient of variation (wSCV) and the percent intra-subject variation (iSV) determined with the Gage R&R analysis. The iSV for R Ktrans using LRRM was two-fold lower compared to NRRM at all simulated and experimental conditions. A similar trend was observed for the Tofts model, where LTM was at least 50% more repeatable than the NTM under all experimental and simulated conditions. The semi-quantitative metrics iauc64 and MER were as equally repeatable as K trans and R Ktrans estimated by LTM and LRRM respectively. The iSV for iauc64 and MER were significantly lower than the iSV for slope and TTP. In simulations and experimental results, linearization improves the repeatability of quantitative DCE-MRI by at least 30%, making it as repeatable as semi-quantitative metrics. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. The Quantitative Basis of the Arabidopsis Innate Immune System to Endemic Pathogens Depends on Pathogen Genetics

    PubMed Central

    Corwin, Jason A.; Copeland, Daniel; Feusier, Julie; Subedy, Anushriya; Eshbaugh, Robert; Palmer, Christine; Maloof, Julin; Kliebenstein, Daniel J.

    2016-01-01

    The most established model of the eukaryotic innate immune system is derived from examples of large effect monogenic quantitative resistance to pathogens. However, many host-pathogen interactions involve many genes of small to medium effect and exhibit quantitative resistance. We used the Arabidopsis-Botrytis pathosystem to explore the quantitative genetic architecture underlying host innate immune system in a population of Arabidopsis thaliana. By infecting a diverse panel of Arabidopsis accessions with four phenotypically and genotypically distinct isolates of the fungal necrotroph B. cinerea, we identified a total of 2,982 genes associated with quantitative resistance using lesion area and 3,354 genes associated with camalexin production as measures of the interaction. Most genes were associated with resistance to a specific Botrytis isolate, which demonstrates the influence of pathogen genetic variation in analyzing host quantitative resistance. While known resistance genes, such as receptor-like kinases (RLKs) and nucleotide-binding site leucine-rich repeat proteins (NLRs), were found to be enriched among associated genes, they only account for a small fraction of the total genes associated with quantitative resistance. Using publically available co-expression data, we condensed the quantitative resistance associated genes into co-expressed gene networks. GO analysis of these networks implicated several biological processes commonly connected to disease resistance, including defense hormone signaling and ROS production, as well as novel processes, such as leaf development. Validation of single gene T-DNA knockouts in a Col-0 background demonstrate a high success rate (60%) when accounting for differences in environmental and Botrytis genetic variation. This study shows that the genetic architecture underlying host innate immune system is extremely complex and is likely able to sense and respond to differential virulence among pathogen genotypes. PMID:26866607

  8. The Quantitative Basis of the Arabidopsis Innate Immune System to Endemic Pathogens Depends on Pathogen Genetics.

    PubMed

    Corwin, Jason A; Copeland, Daniel; Feusier, Julie; Subedy, Anushriya; Eshbaugh, Robert; Palmer, Christine; Maloof, Julin; Kliebenstein, Daniel J

    2016-02-01

    The most established model of the eukaryotic innate immune system is derived from examples of large effect monogenic quantitative resistance to pathogens. However, many host-pathogen interactions involve many genes of small to medium effect and exhibit quantitative resistance. We used the Arabidopsis-Botrytis pathosystem to explore the quantitative genetic architecture underlying host innate immune system in a population of Arabidopsis thaliana. By infecting a diverse panel of Arabidopsis accessions with four phenotypically and genotypically distinct isolates of the fungal necrotroph B. cinerea, we identified a total of 2,982 genes associated with quantitative resistance using lesion area and 3,354 genes associated with camalexin production as measures of the interaction. Most genes were associated with resistance to a specific Botrytis isolate, which demonstrates the influence of pathogen genetic variation in analyzing host quantitative resistance. While known resistance genes, such as receptor-like kinases (RLKs) and nucleotide-binding site leucine-rich repeat proteins (NLRs), were found to be enriched among associated genes, they only account for a small fraction of the total genes associated with quantitative resistance. Using publically available co-expression data, we condensed the quantitative resistance associated genes into co-expressed gene networks. GO analysis of these networks implicated several biological processes commonly connected to disease resistance, including defense hormone signaling and ROS production, as well as novel processes, such as leaf development. Validation of single gene T-DNA knockouts in a Col-0 background demonstrate a high success rate (60%) when accounting for differences in environmental and Botrytis genetic variation. This study shows that the genetic architecture underlying host innate immune system is extremely complex and is likely able to sense and respond to differential virulence among pathogen genotypes.

  9. Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast

    PubMed Central

    Jeffares, Daniel C.; Jolly, Clemency; Hoti, Mimoza; Speed, Doug; Shaw, Liam; Rallis, Charalampos; Balloux, Francois; Dessimoz, Christophe; Bähler, Jürg; Sedlazeck, Fritz J.

    2017-01-01

    Large structural variations (SVs) within genomes are more challenging to identify than smaller genetic variants but may substantially contribute to phenotypic diversity and evolution. We analyse the effects of SVs on gene expression, quantitative traits and intrinsic reproductive isolation in the yeast Schizosaccharomyces pombe. We establish a high-quality curated catalogue of SVs in the genomes of a worldwide library of S. pombe strains, including duplications, deletions, inversions and translocations. We show that copy number variants (CNVs) show a variety of genetic signals consistent with rapid turnover. These transient CNVs produce stoichiometric effects on gene expression both within and outside the duplicated regions. CNVs make substantial contributions to quantitative traits, most notably intracellular amino acid concentrations, growth under stress and sugar utilization in winemaking, whereas rearrangements are strongly associated with reproductive isolation. Collectively, these findings have broad implications for evolution and for our understanding of quantitative traits including complex human diseases. PMID:28117401

  10. Quantitative Variation in Responses to Root Spatial Constraint within Arabidopsis thaliana[OPEN

    PubMed Central

    Joseph, Bindu; Lau, Lillian; Kliebenstein, Daniel J.

    2015-01-01

    Among the myriad of environmental stimuli that plants utilize to regulate growth and development to optimize fitness are signals obtained from various sources in the rhizosphere that give an indication of the nutrient status and volume of media available. These signals include chemical signals from other plants, nutrient signals, and thigmotropic interactions that reveal the presence of obstacles to growth. Little is known about the genetics underlying the response of plants to physical constraints present within the rhizosphere. In this study, we show that there is natural variation among Arabidopsis thaliana accessions in their growth response to physical rhizosphere constraints and competition. We mapped growth quantitative trait loci that regulate a positive response of foliar growth to short physical constraints surrounding the root. This is a highly polygenic trait and, using quantitative validation studies, we showed that natural variation in EARLY FLOWERING3 (ELF3) controls the link between root constraint and altered shoot growth. This provides an entry point to study how root and shoot growth are integrated to respond to environmental stimuli. PMID:26243313

  11. Genetic Architecture of Micro-Environmental Plasticity in Drosophila melanogaster

    PubMed Central

    Morgante, Fabio; Sørensen, Peter; Sorensen, Daniel A.; Maltecca, Christian; Mackay, Trudy F. C.

    2015-01-01

    Individuals of the same genotype do not have the same phenotype for quantitative traits when reared under common macro-environmental conditions, a phenomenon called micro-environmental plasticity. Genetic variation in micro-environmental plasticity is assumed in models of the evolution of phenotypic variance, and is important in applied breeding and personalized medicine. Here, we quantified genetic variation for micro-environmental plasticity for three quantitative traits in the inbred, sequenced lines of the Drosophila melanogaster Genetic Reference Panel. We found substantial genetic variation for micro-environmental plasticity for all traits, with broad sense heritabilities of the same magnitude or greater than those of trait means. Micro-environmental plasticity is not correlated with residual segregating variation, is trait-specific, and has genetic correlations with trait means ranging from zero to near unity. We identified several candidate genes associated with micro-environmental plasticity of startle response, including Drosophila Hsp90, setting the stage for future genetic dissection of this phenomenon. PMID:25943032

  12. An extended cost potential field cellular automata model considering behavior variation of pedestrian flow

    NASA Astrophysics Data System (ADS)

    Guo, Fang; Li, Xingli; Kuang, Hua; Bai, Yang; Zhou, Huaguo

    2016-11-01

    The original cost potential field cellular automata describing normal pedestrian evacuation is extended to study more general evacuation scenarios. Based on the cost potential field function, through considering the psychological characteristics of crowd under emergencies, the quantitative formula of behavior variation is introduced to reflect behavioral changes caused by psychology tension. The numerical simulations are performed to investigate the effects of the magnitude of behavior variation, the different pedestrian proportions with different behavior variation and other factors on the evacuation efficiency and process in a room. The spatiotemporal dynamic characteristic during the evacuation process is also discussed. The results show that compared with the normal evacuation, the behavior variation under an emergency does not necessarily lead to the decrease of the evacuation efficiency. At low density, the increase of the behavior variation can improve the evacuation efficiency, while at high density, the evacuation efficiency drops significantly with the increasing amplitude of the behavior variation. In addition, the larger proportion of pedestrian affected by the behavior variation will prolong the evacuation time.

  13. The long-term evolution of multilocus traits under frequency-dependent disruptive selection.

    PubMed

    van Doorn, G Sander; Dieckmann, Ulf

    2006-11-01

    Frequency-dependent disruptive selection is widely recognized as an important source of genetic variation. Its evolutionary consequences have been extensively studied using phenotypic evolutionary models, based on quantitative genetics, game theory, or adaptive dynamics. However, the genetic assumptions underlying these approaches are highly idealized and, even worse, predict different consequences of frequency-dependent disruptive selection. Population genetic models, by contrast, enable genotypic evolutionary models, but traditionally assume constant fitness values. Only a minority of these models thus addresses frequency-dependent selection, and only a few of these do so in a multilocus context. An inherent limitation of these remaining studies is that they only investigate the short-term maintenance of genetic variation. Consequently, the long-term evolution of multilocus characters under frequency-dependent disruptive selection remains poorly understood. We aim to bridge this gap between phenotypic and genotypic models by studying a multilocus version of Levene's soft-selection model. Individual-based simulations and deterministic approximations based on adaptive dynamics theory provide insights into the underlying evolutionary dynamics. Our analysis uncovers a general pattern of polymorphism formation and collapse, likely to apply to a wide variety of genetic systems: after convergence to a fitness minimum and the subsequent establishment of genetic polymorphism at multiple loci, genetic variation becomes increasingly concentrated on a few loci, until eventually only a single polymorphic locus remains. This evolutionary process combines features observed in quantitative genetics and adaptive dynamics models, and it can be explained as a consequence of changes in the selection regime that are inherent to frequency-dependent disruptive selection. Our findings demonstrate that the potential of frequency-dependent disruptive selection to maintain polygenic variation is considerably smaller than previously expected.

  14. KRN4 Controls Quantitative Variation in Maize Kernel Row Number

    PubMed Central

    Liu, Lei; Du, Yanfang; Shen, Xiaomeng; Li, Manfei; Sun, Wei; Huang, Juan; Liu, Zhijie; Tao, Yongsheng; Zheng, Yonglian; Yan, Jianbing; Zhang, Zuxin

    2015-01-01

    Kernel row number (KRN) is an important component of yield during the domestication and improvement of maize and controlled by quantitative trait loci (QTL). Here, we fine-mapped a major KRN QTL, KRN4, which can enhance grain productivity by increasing KRN per ear. We found that a ~3-Kb intergenic region about 60 Kb downstream from the SBP-box gene Unbranched3 (UB3) was responsible for quantitative variation in KRN by regulating the level of UB3 expression. Within the 3-Kb region, the 1.2-Kb Presence-Absence variant was found to be strongly associated with quantitative variation in KRN in diverse maize inbred lines, and our results suggest that this 1.2-Kb transposon-containing insertion is likely responsible for increased KRN. A previously identified A/G SNP (S35, also known as Ser220Asn) in UB3 was also found to be significantly associated with KRN in our association-mapping panel. Although no visible genetic effect of S35 alone could be detected in our linkage mapping population, it was found to genetically interact with the 1.2-Kb PAV to modulate KRN. The KRN4 was under strong selection during maize domestication and the favorable allele for the 1.2-Kb PAV and S35 has been significantly enriched in modern maize improvement process. The favorable haplotype (Hap1) of 1.2-Kb-PAV-S35 was selected during temperate maize improvement, but is still rare in tropical and subtropical maize germplasm. The dissection of the KRN4 locus improves our understanding of the genetic basis of quantitative variation in complex traits in maize. PMID:26575831

  15. Genomic Characterization of the Evolutionary Potential of the Sea Urchin Strongylocentrotus droebachiensis Facing Ocean Acidification

    PubMed Central

    Dorey, Narimane; Garfield, David A.; Stumpp, Meike; Dupont, Sam; Wray, Gregory A.

    2016-01-01

    Abstract Ocean acidification (OA) is increasing due to anthropogenic CO2 emissions and poses a threat to marine species and communities worldwide. To better project the effects of acidification on organisms’ health and persistence, an understanding is needed of the 1) mechanisms underlying developmental and physiological tolerance and 2) potential populations have for rapid evolutionary adaptation. This is especially challenging in nonmodel species where targeted assays of metabolism and stress physiology may not be available or economical for large-scale assessments of genetic constraints. We used mRNA sequencing and a quantitative genetics breeding design to study mechanisms underlying genetic variability and tolerance to decreased seawater pH (-0.4 pH units) in larvae of the sea urchin Strongylocentrotus droebachiensis. We used a gene ontology-based approach to integrate expression profiles into indirect measures of cellular and biochemical traits underlying variation in larval performance (i.e., growth rates). Molecular responses to OA were complex, involving changes to several functions such as growth rates, cell division, metabolism, and immune activities. Surprisingly, the magnitude of pH effects on molecular traits tended to be small relative to variation attributable to segregating functional genetic variation in this species. We discuss how the application of transcriptomics and quantitative genetics approaches across diverse species can enrich our understanding of the biological impacts of climate change. PMID:28082601

  16. Deciphering molecular circuits from genetic variation underlying transcriptional responsiveness to stimuli.

    PubMed

    Gat-Viks, Irit; Chevrier, Nicolas; Wilentzik, Roni; Eisenhaure, Thomas; Raychowdhury, Raktima; Steuerman, Yael; Shalek, Alex K; Hacohen, Nir; Amit, Ido; Regev, Aviv

    2013-04-01

    Individual genetic variation affects gene responsiveness to stimuli, often by influencing complex molecular circuits. Here we combine genomic and intermediate-scale transcriptional profiling with computational methods to identify variants that affect the responsiveness of genes to stimuli (responsiveness quantitative trait loci or reQTLs) and to position these variants in molecular circuit diagrams. We apply this approach to study variation in transcriptional responsiveness to pathogen components in dendritic cells from recombinant inbred mouse strains. We identify reQTLs that correlate with particular stimuli and position them in known pathways. For example, in response to a virus-like stimulus, a trans-acting variant responds as an activator of the antiviral response; using RNA interference, we identify Rgs16 as the likely causal gene. Our approach charts an experimental and analytic path to decipher the mechanisms underlying genetic variation in circuits that control responses to stimuli.

  17. How to quantitatively evaluate safety of driver behavior upon accident? A biomechanical methodology

    PubMed Central

    Zhang, Wen; Cao, Jieer

    2017-01-01

    How to evaluate driver spontaneous reactions in various collision patterns in a quantitative way is one of the most important topics in vehicle safety. Firstly, this paper constructs representative numerical crash scenarios described by impact velocity, impact angle and contact position based on finite element (FE) computation platform. Secondly, a driver cabin model is extracted and described in the well validated multi-rigid body (MB) model to compute the value of weighted injury criterion to quantitatively assess drivers’ overall injury under certain circumstances. Furthermore, based on the coupling of FE and MB, parametric studies on various crash scenarios are conducted. It is revealed that the WIC (Weighted Injury Criteria) value variation law under high impact velocities is quite distinct comparing with the one in low impact velocities. In addition, the coupling effect can be elucidated by the fact that the difference of WIC value among three impact velocities under smaller impact angles tends to be distinctly higher than that under larger impact angles. Meanwhile, high impact velocity also increases the sensitivity of WIC under different collision positions and impact angles. Results may provide a new methodology to quantitatively evaluate driving behaviors and serve as a significant guiding step towards collision avoidance for autonomous driving vehicles. PMID:29240789

  18. How to quantitatively evaluate safety of driver behavior upon accident? A biomechanical methodology.

    PubMed

    Zhang, Wen; Cao, Jieer; Xu, Jun

    2017-01-01

    How to evaluate driver spontaneous reactions in various collision patterns in a quantitative way is one of the most important topics in vehicle safety. Firstly, this paper constructs representative numerical crash scenarios described by impact velocity, impact angle and contact position based on finite element (FE) computation platform. Secondly, a driver cabin model is extracted and described in the well validated multi-rigid body (MB) model to compute the value of weighted injury criterion to quantitatively assess drivers' overall injury under certain circumstances. Furthermore, based on the coupling of FE and MB, parametric studies on various crash scenarios are conducted. It is revealed that the WIC (Weighted Injury Criteria) value variation law under high impact velocities is quite distinct comparing with the one in low impact velocities. In addition, the coupling effect can be elucidated by the fact that the difference of WIC value among three impact velocities under smaller impact angles tends to be distinctly higher than that under larger impact angles. Meanwhile, high impact velocity also increases the sensitivity of WIC under different collision positions and impact angles. Results may provide a new methodology to quantitatively evaluate driving behaviors and serve as a significant guiding step towards collision avoidance for autonomous driving vehicles.

  19. The behavior of SiC and Si3N4 ceramics in mixed oxidation/chlorination environments

    NASA Technical Reports Server (NTRS)

    Marra, John E.; Kreidler, Eric R.; Jacobson, Nathan S.; Fox, Dennis S.

    1989-01-01

    The behavior of silicon-based ceramics in mixed oxidation/chlorination environments was studied. High pressure mass spectrometry was used to quantitatively identify the reaction products. The quantitative identification of the corrosion products was coupled with thermogravimetric analysis and thermodynamic equilibrium calculations run under similar conditions in order to deduce the mechanism of corrosion. Variations in the behavior of the different silicon-based materials are discussed. Direct evidence of the existence of silicon oxychloride compounds is presented.

  20. Analysis of Ergot Alkaloids

    PubMed Central

    Crews, Colin

    2015-01-01

    The principles and application of established and newer methods for the quantitative and semi-quantitative determination of ergot alkaloids in food, feed, plant materials and animal tissues are reviewed. The techniques of sampling, extraction, clean-up, detection, quantification and validation are described. The major procedures for ergot alkaloid analysis comprise liquid chromatography with tandem mass spectrometry (LC-MS/MS) and liquid chromatography with fluorescence detection (LC-FLD). Other methods based on immunoassays are under development and variations of these and minor techniques are available for specific purposes. PMID:26046699

  1. Heritable Variation for Sex Ratio under Environmental Sex Determination in the Common Snapping Turtle (Chelydra Serpentina)

    PubMed Central

    Janzen, F. J.

    1992-01-01

    The magnitude of quantitative genetic variation for primary sex ratio was measured in families extracted from a natural population of the common snapping turtle (Chelydra serpentina), which possesses temperature-dependent sex determination (TSD). Eggs were incubated at three temperatures that produced mixed sex ratios. This experimental design provided estimates of the heritability of sex ratio in multiple environments and a test of the hypothesis that genotype X environment (G X E) interactions may be maintaining genetic variation for sex ratio in this population of C. serpentina. Substantial quantitative genetic variation for primary sex ratio was detected in all experimental treatments. These results in conjunction with the occurrence of TSD in this species provide support for three critical assumptions of Fisher's theory for the microevolution of sex ratio. There were statistically significant effects of family and incubation temperature on sex ratio, but no significant interaction was observed. Estimates of the genetic correlations of sex ratio across environments were highly positive and essentially indistinguishable from +1. These latter two findings suggest that G X E interaction is not the mechanism maintaining genetic variation for sex ratio in this system. Finally, although substantial heritable variation exists for primary sex ratio of C. serpentina under constant temperatures, estimates of the effective heritability of primary sex ratio in nature are approximately an order of magnitude smaller. Small effective heritability and a long generation time in C. serpentina imply that evolution of sex ratios would be slow even in response to strong selection by, among other potential agents, any rapid and/or substantial shifts in local temperatures, including those produced by changes in the global climate. PMID:1592234

  2. Flow cytometric determination of quantitative immunophenotypes

    NASA Astrophysics Data System (ADS)

    Redelman, Douglas; Ensign, Wayne; Roberts, Don

    2001-05-01

    Immunofluorescent flow cytometric analysis of peripheral blood leucocytes is most commonly used to identify and enumerate cells defined by one or more clusters of differentiation (CD) antigens. Although less widely employed, quantitative tests that measure the amounts of CD antigens expressed per cell are used in some situations such as the characterization of lymphomas and leukocytes or the measurement of CD38 on CD3plu8pluT cells in HIV infected individuals. The CD antigens used to identify leukocyte populations are functionally important molecules and it is known that under- or over-expression of some CD antigens can affect cellular responses. For example, high or low expression of CD19 on B cells is associated with autoimmune conditions or depressed antibody responses, respectively. In the current studies, the quantitative expression of CD antigens on T cells, B cells and monocytes was determined in a group of age and sex-matched Marines at several times before and after training exercises. There was substantial variation among these individuals in the quantitative expression of CD antigens and in the number of cells in various populations. However, there was relatively little variation within individuals during the two months they were examined. Thus, the number of cells in leukocyte sub-populations and the amount of CD antigens expressed per cell appear to comprise a characteristic quantitative immunophenotype.

  3. Genomic Characterization of the Evolutionary Potential of the Sea Urchin Strongylocentrotus droebachiensis Facing Ocean Acidification.

    PubMed

    Runcie, Daniel E; Dorey, Narimane; Garfield, David A; Stumpp, Meike; Dupont, Sam; Wray, Gregory A

    2016-12-01

    Ocean acidification (OA) is increasing due to anthropogenic CO2 emissions and poses a threat to marine species and communities worldwide. To better project the effects of acidification on organisms' health and persistence, an understanding is needed of the 1) mechanisms underlying developmental and physiological tolerance and 2) potential populations have for rapid evolutionary adaptation. This is especially challenging in nonmodel species where targeted assays of metabolism and stress physiology may not be available or economical for large-scale assessments of genetic constraints. We used mRNA sequencing and a quantitative genetics breeding design to study mechanisms underlying genetic variability and tolerance to decreased seawater pH (-0.4 pH units) in larvae of the sea urchin Strongylocentrotus droebachiensis. We used a gene ontology-based approach to integrate expression profiles into indirect measures of cellular and biochemical traits underlying variation in larval performance (i.e., growth rates). Molecular responses to OA were complex, involving changes to several functions such as growth rates, cell division, metabolism, and immune activities. Surprisingly, the magnitude of pH effects on molecular traits tended to be small relative to variation attributable to segregating functional genetic variation in this species. We discuss how the application of transcriptomics and quantitative genetics approaches across diverse species can enrich our understanding of the biological impacts of climate change. © The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

  4. Advances in Genetical Genomics of Plants

    PubMed Central

    Joosen, R.V.L.; Ligterink, W.; Hilhorst, H.W.M.; Keurentjes, J.J.B.

    2009-01-01

    Natural variation provides a valuable resource to study the genetic regulation of quantitative traits. In quantitative trait locus (QTL) analyses this variation, captured in segregating mapping populations, is used to identify the genomic regions affecting these traits. The identification of the causal genes underlying QTLs is a major challenge for which the detection of gene expression differences is of major importance. By combining genetics with large scale expression profiling (i.e. genetical genomics), resulting in expression QTLs (eQTLs), great progress can be made in connecting phenotypic variation to genotypic diversity. In this review we discuss examples from human, mouse, Drosophila, yeast and plant research to illustrate the advances in genetical genomics, with a focus on understanding the regulatory mechanisms underlying natural variation. With their tolerance to inbreeding, short generation time and ease to generate large families, plants are ideal subjects to test new concepts in genetics. The comprehensive resources which are available for Arabidopsis make it a favorite model plant but genetical genomics also found its way to important crop species like rice, barley and wheat. We discuss eQTL profiling with respect to cis and trans regulation and show how combined studies with other ‘omics’ technologies, such as metabolomics and proteomics may further augment current information on transcriptional, translational and metabolomic signaling pathways and enable reconstruction of detailed regulatory networks. The fast developments in the ‘omics’ area will offer great potential for genetical genomics to elucidate the genotype-phenotype relationships for both fundamental and applied research. PMID:20514216

  5. Binding Site Turnover Produces Pervasive Quantitative Changes in Transcription Factor Binding between Closely Related Drosophila Species

    PubMed Central

    Trapnell, Cole; Davidson, Stuart; Pachter, Lior; Chu, Hou Cheng; Tonkin, Leath A.; Biggin, Mark D.; Eisen, Michael B.

    2010-01-01

    Changes in gene expression play an important role in evolution, yet the molecular mechanisms underlying regulatory evolution are poorly understood. Here we compare genome-wide binding of the six transcription factors that initiate segmentation along the anterior-posterior axis in embryos of two closely related species: Drosophila melanogaster and Drosophila yakuba. Where we observe binding by a factor in one species, we almost always observe binding by that factor to the orthologous sequence in the other species. Levels of binding, however, vary considerably. The magnitude and direction of the interspecies differences in binding levels of all six factors are strongly correlated, suggesting a role for chromatin or other factor-independent forces in mediating the divergence of transcription factor binding. Nonetheless, factor-specific quantitative variation in binding is common, and we show that it is driven to a large extent by the gain and loss of cognate recognition sequences for the given factor. We find only a weak correlation between binding variation and regulatory function. These data provide the first genome-wide picture of how modest levels of sequence divergence between highly morphologically similar species affect a system of coordinately acting transcription factors during animal development, and highlight the dominant role of quantitative variation in transcription factor binding over short evolutionary distances. PMID:20351773

  6. Quantitative Genetic Architecture at Latitudinal Range Boundaries: Reduced Variation but Higher Trait Independence.

    PubMed

    Paccard, Antoine; Van Buskirk, Josh; Willi, Yvonne

    2016-05-01

    Species distribution limits are hypothesized to be caused by small population size and limited genetic variation in ecologically relevant traits, but earlier studies have not evaluated genetic variation in multivariate phenotypes. We asked whether populations at the latitudinal edges of the distribution have altered quantitative genetic architecture of ecologically relevant traits compared with midlatitude populations. We calculated measures of evolutionary potential in nine Arabidopsis lyrata populations spanning the latitudinal range of the species in eastern and midwestern North America. Environments at the latitudinal extremes have reduced water availability, and therefore plants were assessed under wet and dry treatments. We estimated genetic variance-covariance (G-) matrices for 10 traits related to size, development, and water balance. Populations at southern and northern distribution edges had reduced levels of genetic variation across traits, but their G-matrices were more spherical; G-matrix orientation was unrelated to latitude. As a consequence, the predicted short-term response to selection was at least as strong in edge populations as in central populations. These results are consistent with genetic drift eroding variation and reducing the effectiveness of correlational selection at distribution margins. We conclude that genetic variation of isolated traits poorly predicts the capacity to evolve in response to multivariate selection and that the response to selection may frequently be greater than expected at species distribution margins because of genetic drift.

  7. In-silico QTL mapping of postpubertal mammary ductal development in the mouse uncovers potential human breast cancer risk loci

    USDA-ARS?s Scientific Manuscript database

    Genetic background plays a dominant role in mammary gland development and breast cancer (BrCa). Despite this, the role of genetics is only partially understood. This study used strain-dependent variation in an inbred mouse mapping panel, to identify quantitative trait loci (QTL) underlying structura...

  8. Effects of atmospheric aerosols on scattering reflected visible light from earth resource features

    NASA Technical Reports Server (NTRS)

    Noll, K. E.; Tschantz, B. A.; Davis, W. T.

    1972-01-01

    The vertical variations in atmospheric light attenuation under ambient conditions were identified, and a method through which aerial photographs of earth features might be corrected to yield quantitative information about the actual features was provided. A theoretical equation was developed based on the Bouguer-Lambert extinction law and basic photographic theory.

  9. Relationships between Grade Levels, Personal Factors, and Instructional Variation among 4th-12th Grade Teachers

    ERIC Educational Resources Information Center

    White, Jacquelyn M.

    2011-01-01

    The purpose of this quantitative correlational study was to investigate relationships between grade levels, personal factors of teachers, and instructional variety used by 4th-12th grade teachers in Kern County, California. The population under investigation included 2,844 teachers. 235 elementary, middle school/junior high, and secondary teachers…

  10. Early rooting of dormant hardwood cuttings of Populus: analysis of quantitative genetics and genotype x environment interactions

    Treesearch

    Ronald S., Jr. Zalesny; Don E. Riemenschneider; Richard B. Hall

    2005-01-01

    Rooting of hardwood cuttings is under strong genetic control, although genotype x environment interactions affect selection of promising genotypes. Our objectives were (1) to assess the variation in rooting ability among 21 Populus clones and (2) to examine genotype x environment interactions to refine clonal recommendations. The clones belonged to...

  11. The influence of genetic drift and selection on quantitative traits in a plant pathogenic fungus.

    PubMed

    Stefansson, Tryggvi S; McDonald, Bruce A; Willi, Yvonne

    2014-01-01

    Genetic drift and selection are ubiquitous evolutionary forces acting to shape genetic variation in populations. While their relative importance has been well studied in plants and animals, less is known about their relative importance in fungal pathogens. Because agro-ecosystems are more homogeneous environments than natural ecosystems, stabilizing selection may play a stronger role than genetic drift or diversifying selection in shaping genetic variation among populations of fungal pathogens in agro-ecosystems. We tested this hypothesis by conducting a QST/FST analysis using agricultural populations of the barley pathogen Rhynchosporium commune. Population divergence for eight quantitative traits (QST) was compared with divergence at eight neutral microsatellite loci (FST) for 126 pathogen strains originating from nine globally distributed field populations to infer the effects of genetic drift and types of selection acting on each trait. Our analyses indicated that five of the eight traits had QST values significantly lower than FST, consistent with stabilizing selection, whereas one trait, growth under heat stress (22°C), showed evidence of diversifying selection and local adaptation (QST>FST). Estimates of heritability were high for all traits (means ranging between 0.55-0.84), and average heritability across traits was negatively correlated with microsatellite gene diversity. Some trait pairs were genetically correlated and there was significant evidence for a trade-off between spore size and spore number, and between melanization and growth under benign temperature. Our findings indicate that many ecologically and agriculturally important traits are under stabilizing selection in R. commune and that high within-population genetic variation is maintained for these traits.

  12. Performance Metrics for Liquid Chromatography-Tandem Mass Spectrometry Systems in Proteomics Analyses*

    PubMed Central

    Rudnick, Paul A.; Clauser, Karl R.; Kilpatrick, Lisa E.; Tchekhovskoi, Dmitrii V.; Neta, Pedatsur; Blonder, Nikša; Billheimer, Dean D.; Blackman, Ronald K.; Bunk, David M.; Cardasis, Helene L.; Ham, Amy-Joan L.; Jaffe, Jacob D.; Kinsinger, Christopher R.; Mesri, Mehdi; Neubert, Thomas A.; Schilling, Birgit; Tabb, David L.; Tegeler, Tony J.; Vega-Montoto, Lorenzo; Variyath, Asokan Mulayath; Wang, Mu; Wang, Pei; Whiteaker, Jeffrey R.; Zimmerman, Lisa J.; Carr, Steven A.; Fisher, Susan J.; Gibson, Bradford W.; Paulovich, Amanda G.; Regnier, Fred E.; Rodriguez, Henry; Spiegelman, Cliff; Tempst, Paul; Liebler, Daniel C.; Stein, Stephen E.

    2010-01-01

    A major unmet need in LC-MS/MS-based proteomics analyses is a set of tools for quantitative assessment of system performance and evaluation of technical variability. Here we describe 46 system performance metrics for monitoring chromatographic performance, electrospray source stability, MS1 and MS2 signals, dynamic sampling of ions for MS/MS, and peptide identification. Applied to data sets from replicate LC-MS/MS analyses, these metrics displayed consistent, reasonable responses to controlled perturbations. The metrics typically displayed variations less than 10% and thus can reveal even subtle differences in performance of system components. Analyses of data from interlaboratory studies conducted under a common standard operating procedure identified outlier data and provided clues to specific causes. Moreover, interlaboratory variation reflected by the metrics indicates which system components vary the most between laboratories. Application of these metrics enables rational, quantitative quality assessment for proteomics and other LC-MS/MS analytical applications. PMID:19837981

  13. Quantitative trait locus mapping and analysis of heritable variation in affiliative social behavior and co-occurring traits.

    PubMed

    Knoll, A T; Jiang, K; Levitt, P

    2018-06-01

    Humans exhibit broad heterogeneity in affiliative social behavior. Twin and family studies show that individual differences in core dimensions of social behavior are heritable, yet there are knowledge gaps in understanding the underlying genetic and neurobiological mechanisms. Animal genetic reference panels (GRPs) provide a tractable strategy for examining the behavioral and genetic architecture of complex traits. Here, using males from 50 mouse strains from the BXD GRP, 4 domains of affiliative social behavior-social approach, social recognition, direct social interaction (DSI) (partner sniffing) and vocal communication-were examined in 2 widely used behavioral tasks-the 3-chamber and DSI tasks. There was continuous and broad variation in social and nonsocial traits, with moderate to high heritability of social approach sniff preference (0.31), ultrasonic vocalization (USV) count (0.39), partner sniffing (0.51), locomotor activity (0.54-0.66) and anxiety-like behavior (0.36). Principal component analysis shows that variation in social and nonsocial traits are attributable to 5 independent factors. Genome-wide mapping identified significant quantitative trait loci for USV count on chromosome (Chr) 18 and locomotor activity on Chr X, with suggestive loci and candidate quantitative trait genes identified for all traits with one notable exception-partner sniffing in the DSI task. The results show heritable variation in sociability, which is independent of variation in activity and anxiety-like traits. In addition, a highly heritable and ethological domain of affiliative sociability-partner sniffing-appears highly polygenic. These findings establish a basis for identifying functional natural variants, leading to a new understanding typical and atypical sociability. © 2017 The Authors. Genes, Brain and Behavior published by International Behavioural and Neural Genetics Society and John Wiley & Sons Ltd.

  14. Combining quantitative trait loci analysis with physiological models to predict genotype-specific transpiration rates.

    PubMed

    Reuning, Gretchen A; Bauerle, William L; Mullen, Jack L; McKay, John K

    2015-04-01

    Transpiration is controlled by evaporative demand and stomatal conductance (gs ), and there can be substantial genetic variation in gs . A key parameter in empirical models of transpiration is minimum stomatal conductance (g0 ), a trait that can be measured and has a large effect on gs and transpiration. In Arabidopsis thaliana, g0 exhibits both environmental and genetic variation, and quantitative trait loci (QTL) have been mapped. We used this information to create a genetically parameterized empirical model to predict transpiration of genotypes. For the parental lines, this worked well. However, in a recombinant inbred population, the predictions proved less accurate. When based only upon their genotype at a single g0 QTL, genotypes were less distinct than our model predicted. Follow-up experiments indicated that both genotype by environment interaction and a polygenic inheritance complicate the application of genetic effects into physiological models. The use of ecophysiological or 'crop' models for predicting transpiration of novel genetic lines will benefit from incorporating further knowledge of the genetic control and degree of independence of core traits/parameters underlying gs variation. © 2014 John Wiley & Sons Ltd.

  15. 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

  16. EPS-LASSO: Test for High-Dimensional Regression Under Extreme Phenotype Sampling of Continuous Traits.

    PubMed

    Xu, Chao; Fang, Jian; Shen, Hui; Wang, Yu-Ping; Deng, Hong-Wen

    2018-01-25

    Extreme phenotype sampling (EPS) is a broadly-used design to identify candidate genetic factors contributing to the variation of quantitative traits. By enriching the signals in extreme phenotypic samples, EPS can boost the association power compared to random sampling. Most existing statistical methods for EPS examine the genetic factors individually, despite many quantitative traits have multiple genetic factors underlying their variation. It is desirable to model the joint effects of genetic factors, which may increase the power and identify novel quantitative trait loci under EPS. The joint analysis of genetic data in high-dimensional situations requires specialized techniques, e.g., the least absolute shrinkage and selection operator (LASSO). Although there are extensive research and application related to LASSO, the statistical inference and testing for the sparse model under EPS remain unknown. We propose a novel sparse model (EPS-LASSO) with hypothesis test for high-dimensional regression under EPS based on a decorrelated score function. The comprehensive simulation shows EPS-LASSO outperforms existing methods with stable type I error and FDR control. EPS-LASSO can provide a consistent power for both low- and high-dimensional situations compared with the other methods dealing with high-dimensional situations. The power of EPS-LASSO is close to other low-dimensional methods when the causal effect sizes are small and is superior when the effects are large. Applying EPS-LASSO to a transcriptome-wide gene expression study for obesity reveals 10 significant body mass index associated genes. Our results indicate that EPS-LASSO is an effective method for EPS data analysis, which can account for correlated predictors. The source code is available at https://github.com/xu1912/EPSLASSO. hdeng2@tulane.edu. Supplementary data are available at Bioinformatics online. © The Author (2018). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  17. Genetic variation in a grapevine progeny (Vitis vinifera L. cvs Grenache×Syrah) reveals inconsistencies between maintenance of daytime leaf water potential and response of transpiration rate under drought

    PubMed Central

    Coupel-Ledru, Aude; Lebon, Éric; Christophe, Angélique; Doligez, Agnès; Cabrera-Bosquet, Llorenç; Péchier, Philippe; Hamard, Philippe; This, Patrice; Simonneau, Thierry

    2014-01-01

    In the face of water stress, plants evolved with different abilities to limit the decrease in leaf water potential, notably in the daytime (ΨM). So-called isohydric species efficiently maintain high ΨM, whereas anisohydric species cannot prevent ΨM from dropping as soil water deficit develops. The genetic and physiological origins of these differences in (an)isohydric behaviours remain to be clarified. This is of particular interest within species such as Vitis vinifera L. where continuous variation in the level of isohydry has been observed among cultivars. With this objective, a 2 year experiment was conducted on the pseudo-F1 progeny from a cross between the two widespread cultivars Syrah and Grenache using a phenotyping platform coupled to a controlled-environment chamber. Potted plants of all the progeny were analysed for ΨM, transpiration rate, and soil-to-leaf hydraulic conductance, under both well-watered and water deficit conditions. A high genetic variability was found for all the above traits. Four quantitative trait loci (QTLs) were detected for ΨM under water deficit conditions, and 28 other QTLs were detected for the different traits in either condition. Genetic variation in ΨM maintenance under water deficit weakly correlated with drought-induced reduction in transpiration rate in the progeny, and QTLs for both traits did not completely co-localize. This indicates that genetic variation in the control of ΨM under water deficit was not due simply to variation in transpiration sensitivity to soil drying. Possible origins of the diversity in (an)isohydric behaviours in grapevine are discussed on the basis of concurrent variations in soil-to-leaf hydraulic conductance and stomatal control of transpiration. PMID:25381432

  18. Beyond Punnett Squares: Student Word Association and Explanations of Phenotypic Variation through an Integrative Quantitative Genetics Unit Investigating Anthocyanin Inheritance and Expression in "Brassica rapa" Fast Plants

    ERIC Educational Resources Information Center

    Batzli, Janet M.; Smith, Amber R.; Williams, Paul H.; McGee, Seth A.; Dosa, Katalin; Pfammatter, Jesse

    2014-01-01

    Genetics instruction in introductory biology is often confined to Mendelian genetics and avoids the complexities of variation in quantitative traits. Given the driving question "What determines variation in phenotype (Pv)? (Pv=Genotypic variation Gv + environmental variation Ev)," we developed a 4-wk unit for an inquiry-based laboratory…

  19. A simple genetic architecture underlies morphological variation in dogs.

    PubMed

    Boyko, Adam R; Quignon, Pascale; Li, Lin; Schoenebeck, Jeffrey J; Degenhardt, Jeremiah D; Lohmueller, Kirk E; Zhao, Keyan; Brisbin, Abra; Parker, Heidi G; vonHoldt, Bridgett M; Cargill, Michele; Auton, Adam; Reynolds, Andy; Elkahloun, Abdel G; Castelhano, Marta; Mosher, Dana S; Sutter, Nathan B; Johnson, Gary S; Novembre, John; Hubisz, Melissa J; Siepel, Adam; Wayne, Robert K; Bustamante, Carlos D; Ostrander, Elaine A

    2010-08-10

    Domestic dogs exhibit tremendous phenotypic diversity, including a greater variation in body size than any other terrestrial mammal. Here, we generate a high density map of canine genetic variation by genotyping 915 dogs from 80 domestic dog breeds, 83 wild canids, and 10 outbred African shelter dogs across 60,968 single-nucleotide polymorphisms (SNPs). Coupling this genomic resource with external measurements from breed standards and individuals as well as skeletal measurements from museum specimens, we identify 51 regions of the dog genome associated with phenotypic variation among breeds in 57 traits. The complex traits include average breed body size and external body dimensions and cranial, dental, and long bone shape and size with and without allometric scaling. In contrast to the results from association mapping of quantitative traits in humans and domesticated plants, we find that across dog breeds, a small number of quantitative trait loci (< or = 3) explain the majority of phenotypic variation for most of the traits we studied. In addition, many genomic regions show signatures of recent selection, with most of the highly differentiated regions being associated with breed-defining traits such as body size, coat characteristics, and ear floppiness. Our results demonstrate the efficacy of mapping multiple traits in the domestic dog using a database of genotyped individuals and highlight the important role human-directed selection has played in altering the genetic architecture of key traits in this important species.

  20. A Simple Genetic Architecture Underlies Morphological Variation in Dogs

    PubMed Central

    Schoenebeck, Jeffrey J.; Degenhardt, Jeremiah D.; Lohmueller, Kirk E.; Zhao, Keyan; Brisbin, Abra; Parker, Heidi G.; vonHoldt, Bridgett M.; Cargill, Michele; Auton, Adam; Reynolds, Andy; Elkahloun, Abdel G.; Castelhano, Marta; Mosher, Dana S.; Sutter, Nathan B.; Johnson, Gary S.; Novembre, John; Hubisz, Melissa J.; Siepel, Adam; Wayne, Robert K.; Bustamante, Carlos D.; Ostrander, Elaine A.

    2010-01-01

    Domestic dogs exhibit tremendous phenotypic diversity, including a greater variation in body size than any other terrestrial mammal. Here, we generate a high density map of canine genetic variation by genotyping 915 dogs from 80 domestic dog breeds, 83 wild canids, and 10 outbred African shelter dogs across 60,968 single-nucleotide polymorphisms (SNPs). Coupling this genomic resource with external measurements from breed standards and individuals as well as skeletal measurements from museum specimens, we identify 51 regions of the dog genome associated with phenotypic variation among breeds in 57 traits. The complex traits include average breed body size and external body dimensions and cranial, dental, and long bone shape and size with and without allometric scaling. In contrast to the results from association mapping of quantitative traits in humans and domesticated plants, we find that across dog breeds, a small number of quantitative trait loci (≤3) explain the majority of phenotypic variation for most of the traits we studied. In addition, many genomic regions show signatures of recent selection, with most of the highly differentiated regions being associated with breed-defining traits such as body size, coat characteristics, and ear floppiness. Our results demonstrate the efficacy of mapping multiple traits in the domestic dog using a database of genotyped individuals and highlight the important role human-directed selection has played in altering the genetic architecture of key traits in this important species. PMID:20711490

  1. HpQTL: a geometric morphometric platform to compute the genetic architecture of heterophylly.

    PubMed

    Sun, Lidan; Wang, Jing; Zhu, Xuli; Jiang, Libo; Gosik, Kirk; Sang, Mengmeng; Sun, Fengsuo; Cheng, Tangren; Zhang, Qixiang; Wu, Rongling

    2017-02-15

    Heterophylly, i.e. morphological changes in leaves along the axis of an individual plant, is regarded as a strategy used by plants to cope with environmental change. However, little is known of the extent to which heterophylly is controlled by genes and how each underlying gene exerts its effect on heterophyllous variation. We described a geometric morphometric model that can quantify heterophylly in plants and further constructed an R-based computing platform by integrating this model into a genetic mapping and association setting. The platform, named HpQTL, allows specific quantitative trait loci mediating heterophyllous variation to be mapped throughout the genome. The statistical properties of HpQTL were examined and validated via computer simulation. Its biological relevance was demonstrated by results from a real data analysis of heterophylly in a wood plant, mei (Prunus mume). HpQTL provides a powerful tool to analyze heterophylly and its underlying genetic architecture in a quantitative manner. It also contributes a new approach for genome-wide association studies aimed to dissect the programmed regulation of plant development and evolution. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  2. Assessing the complex architecture of polygenic traits in diverged yeast populations.

    PubMed

    Cubillos, Francisco A; Billi, Eleonora; Zörgö, Enikö; Parts, Leopold; Fargier, Patrick; Omholt, Stig; Blomberg, Anders; Warringer, Jonas; Louis, Edward J; Liti, Gianni

    2011-04-01

    Phenotypic variation arising from populations adapting to different niches has a complex underlying genetic architecture. A major challenge in modern biology is to identify the causative variants driving phenotypic variation. Recently, the baker's yeast, Saccharomyces cerevisiae has emerged as a powerful model for dissecting complex traits. However, past studies using a laboratory strain were unable to reveal the complete architecture of polygenic traits. Here, we present a linkage study using 576 recombinant strains obtained from crosses of isolates representative of the major lineages. The meiotic recombinational landscape appears largely conserved between populations; however, strain-specific hotspots were also detected. Quantitative measurements of growth in 23 distinct ecologically relevant environments show that our recombinant population recapitulates most of the standing phenotypic variation described in the species. Linkage analysis detected an average of 6.3 distinct QTLs for each condition tested in all crosses, explaining on average 39% of the phenotypic variation. The QTLs detected are not constrained to a small number of loci, and the majority are specific to a single cross-combination and to a specific environment. Moreover, crosses between strains of similar phenotypes generate greater variation in the offspring, suggesting the presence of many antagonistic alleles and epistatic interactions. We found that subtelomeric regions play a key role in defining individual quantitative variation, emphasizing the importance of the adaptive nature of these regions in natural populations. This set of recombinant strains is a powerful tool for investigating the complex architecture of polygenic traits. © 2011 Blackwell Publishing Ltd.

  3. Analysis of Water Vapour Flux Between Alpine Wetlands Underlying the Surface and Atmosphere in the Source Region of the Yellow River

    NASA Astrophysics Data System (ADS)

    Xie, Y.; Wen, J.; Liu, R.; Wang, X.; JIA, D.

    2017-12-01

    Wetland underlying surface is sensitive to climate change. Analysis of the degree of coupling between wetlands and the atmosphere and a quantitative assessment of how environmental factors influence latent heat flux have considerable scientific significance. Previous studies, which focused on the forest, grassland and farmland ecosystems, lack research on the alpine wetlands. In addition, research on the environmental control mechanism of latent heat flux is still qualitative and lacks quantitative evaluations and calculations. Using data from the observational tests of the Maduo Observatory of Climate and Environment of the Northwest Institute of Eco-Environment and Resource, CAS, from June 1 to August 31, 2014, this study analysed the time-varying characteristics and causes of the degree of coupling between alpine wetlands underlying surface and the atmosphere and quantitatively calculated the influences of different environmental factors (solar radiation and vapour pressure deficit) on latent heat flux. The results were as follows: Due to the diurnal variations of solar radiation and wind speed, the diurnal variations of the Ω factor present a trend in which the Ω factor are small in the morning and large in the evening. Due to the vegetation growing cycle, the seasonal variations of the Ω factor present a reverse "U" trend . These trends are similar to the diurnal and seasonal variations of the absolute control exercised by solar radiation over the latent heat flux. This conforms to omega theory. The values for average absolute atmospheric factor (surface factor or total ) control exercised by solar radiation and water vapour pressure are 0.20 (0.02 or 0.22 ) and 0.005 (-0.07 or -0.06) W·m-2·Pa-1, respectively.. Generally speaking, solar radiation and water vapour pressure deficit exert opposite forces on the latent heat flux. The average Ω factor is high during the vegetation growing season, with a value of 0.38, and the degree of coupling between the alpine wetland surface and the atmosphere system is low. The actual measurements agree with omega theory. The latent heat flux is mainly influenced by solar radiation. From the above, our study has provided reference information for exploring the influences of environmental factors on the latent heat flux over the alpine wetlands of the Yellow River source region.

  4. Longitudinal trends in climate drive flowering time clines in North American Arabidopsis thaliana.

    PubMed

    Samis, Karen E; Murren, Courtney J; Bossdorf, Oliver; Donohue, Kathleen; Fenster, Charles B; Malmberg, Russell L; Purugganan, Michael D; Stinchcombe, John R

    2012-06-01

    Introduced species frequently show geographic differentiation, and when differentiation mirrors the ancestral range, it is often taken as evidence of adaptive evolution. The mouse-ear cress (Arabidopsis thaliana) was introduced to North America from Eurasia 150-200 years ago, providing an opportunity to study parallel adaptation in a genetic model organism. Here, we test for clinal variation in flowering time using 199 North American (NA) accessions of A. thaliana, and evaluate the contributions of major flowering time genes FRI, FLC, and PHYC as well as potential ecological mechanisms underlying differentiation. We find evidence for substantial within population genetic variation in quantitative traits and flowering time, and putatively adaptive longitudinal differentiation, despite low levels of variation at FRI, FLC, and PHYC and genome-wide reductions in population structure relative to Eurasian (EA) samples. The observed longitudinal cline in flowering time in North America is parallel to an EA cline, robust to the effects of population structure, and associated with geographic variation in winter precipitation and temperature. We detected major effects of FRI on quantitative traits associated with reproductive fitness, although the haplotype associated with higher fitness remains rare in North America. Collectively, our results suggest the evolution of parallel flowering time clines through novel genetic mechanisms.

  5. 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.

  6. Single-Cell Based Quantitative Assay of Chromosome Transmission Fidelity

    PubMed Central

    Zhu, Jin; Heinecke, Dominic; Mulla, Wahid A.; Bradford, William D.; Rubinstein, Boris; Box, Andrew; Haug, Jeffrey S.; Li, Rong

    2015-01-01

    Errors in mitosis are a primary cause of chromosome instability (CIN), generating aneuploid progeny cells. Whereas a variety of factors can influence CIN, under most conditions mitotic errors are rare events that have been difficult to measure accurately. Here we report a green fluorescent protein−based quantitative chromosome transmission fidelity (qCTF) assay in budding yeast that allows sensitive and quantitative detection of CIN and can be easily adapted to high-throughput analysis. Using the qCTF assay, we performed genome-wide quantitative profiling of genes that affect CIN in a dosage-dependent manner and identified genes that elevate CIN when either increased (icCIN) or decreased in copy number (dcCIN). Unexpectedly, qCTF screening also revealed genes whose change in copy number quantitatively suppress CIN, suggesting that the basal error rate of the wild-type genome is not minimized, but rather, may have evolved toward an optimal level that balances both stability and low-level karyotype variation for evolutionary adaptation. PMID:25823586

  7. Single-Cell Based Quantitative Assay of Chromosome Transmission Fidelity.

    PubMed

    Zhu, Jin; Heinecke, Dominic; Mulla, Wahid A; Bradford, William D; Rubinstein, Boris; Box, Andrew; Haug, Jeffrey S; Li, Rong

    2015-03-30

    Errors in mitosis are a primary cause of chromosome instability (CIN), generating aneuploid progeny cells. Whereas a variety of factors can influence CIN, under most conditions mitotic errors are rare events that have been difficult to measure accurately. Here we report a green fluorescent protein-based quantitative chromosome transmission fidelity (qCTF) assay in budding yeast that allows sensitive and quantitative detection of CIN and can be easily adapted to high-throughput analysis. Using the qCTF assay, we performed genome-wide quantitative profiling of genes that affect CIN in a dosage-dependent manner and identified genes that elevate CIN when either increased (icCIN) or decreased in copy number (dcCIN). Unexpectedly, qCTF screening also revealed genes whose change in copy number quantitatively suppress CIN, suggesting that the basal error rate of the wild-type genome is not minimized, but rather, may have evolved toward an optimal level that balances both stability and low-level karyotype variation for evolutionary adaptation. Copyright © 2015 Zhu et al.

  8. Variation in commercial smoking mixtures containing third-generation synthetic cannabinoids.

    PubMed

    Frinculescu, Anca; Lyall, Catherine L; Ramsey, John; Miserez, Bram

    2017-02-01

    Variation in ingredients (qualitative variation) and in quantity of active compounds (quantitative variation) in herbal smoking mixtures containing synthetic cannabinoids has been shown for older products. This can be dangerous to the user, as accurate and reproducible dosing is impossible. In this study, 69 packages containing third-generation cannabinoids of seven brands on the UK market in 2014 were analyzed both qualitatively and quantitatively for variation. When comparing the labels to actual active ingredients identified in the sample, only one brand was shown to be correctly labelled. The other six brands contained less, more, or ingredients other than those listed on the label. Only two brands were inconsistent, containing different active ingredients in different samples. Quantitative variation was assessed both within one package and between several packages. Within-package variation was within a 10% range for five of the seven brands, but two brands showed larger variation, up to 25% (Relative Standard Deviation). Variation between packages was significantly higher, with variation up to 38% and maximum concentration up to 2.7 times higher than the minimum concentration. Both qualitative and quantitative variation are common in smoking mixtures and endanger the user, as it is impossible to estimate the dose or to know the compound consumed when smoking commercial mixtures. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  9. Quantitative high-resolution genomic analysis of single cancer cells.

    PubMed

    Hannemann, Juliane; Meyer-Staeckling, Sönke; Kemming, Dirk; Alpers, Iris; Joosse, Simon A; Pospisil, Heike; Kurtz, Stefan; Görndt, Jennifer; Püschel, Klaus; Riethdorf, Sabine; Pantel, Klaus; Brandt, Burkhard

    2011-01-01

    During cancer progression, specific genomic aberrations arise that can determine the scope of the disease and can be used as predictive or prognostic markers. The detection of specific gene amplifications or deletions in single blood-borne or disseminated tumour cells that may give rise to the development of metastases is of great clinical interest but technically challenging. In this study, we present a method for quantitative high-resolution genomic analysis of single cells. Cells were isolated under permanent microscopic control followed by high-fidelity whole genome amplification and subsequent analyses by fine tiling array-CGH and qPCR. The assay was applied to single breast cancer cells to analyze the chromosomal region centred by the therapeutical relevant EGFR gene. This method allows precise quantitative analysis of copy number variations in single cell diagnostics.

  10. Nucleotide polymorphism affecting FLC expression underpins heading date variation in horticultural brassicas.

    PubMed

    Irwin, Judith A; Soumpourou, Eleni; Lister, Clare; Ligthart, Jan-Dick; Kennedy, Sue; Dean, Caroline

    2016-09-01

    Variation in flowering time and response to overwintering has been exploited to breed brassica vegetables that can be harvested year-round. Our knowledge of flowering time control now enables the investigation of the molecular basis of this important variation. Here, we show that a major determinant of heading date variation in Brassica oleracea is from variation in vernalization response through allelic variation at FLOWERING LOCUS C.C2 (BoFLC4). We characterize two alleles of BoFLC.C2 that are both functional and confer a requirement for vernalization, but they show distinct expression dynamics in response to cold. Complementation experiments in Arabidopsis thaliana revealed that the allelic variation results from cis polymorphism at BoFLC.C2, which quantitatively influences the degree of cold-induced epigenetic silencing. This results in one allelic variant conferring consistently later heading under both glasshouse and field conditions through reduced environmental sensitivity. Our results suggest that breeding of brassica varieties for commercially valuable variation in heading date has been achieved through the selection of cis polymorphism at FLC, similar to that underpinning natural variation in A. thaliana. This understanding will allow for the selection of alleles with distinct sensitivities to cold and robust heading dates under variable climatic conditions, and will facilitate the breeding of varieties more resistant to climate change. © 2016 The Authors. The Plant Journal published by Society for Experimental Biology and John Wiley & Sons Ltd.

  11. Environmental quality and evolutionary potential: lessons from wild populations

    PubMed Central

    Charmantier, Anne; Garant, Dany

    2005-01-01

    An essential requirement to determine a population's potential for evolutionary change is to quantify the amount of genetic variability expressed for traits under selection. Early investigations in laboratory conditions showed that the magnitude of the genetic and environmental components of phenotypic variation can change with environmental conditions. However, there is no consensus as to how the expression of genetic variation is sensitive to different environmental conditions. Recently, the study of quantitative genetics in the wild has been revitalized by new pedigree analyses based on restricted maximum likelihood, resulting in a number of studies investigating these questions in wild populations. Experimental manipulation of environmental quality in the wild, as well as the use of naturally occurring favourable or stressful environments, has broadened the treatment of different taxa and traits. Here, we conduct a meta-analysis on recent studies comparing heritability in favourable versus unfavourable conditions in non-domestic and non-laboratory animals. The results provide evidence for increased heritability in more favourable conditions, significantly so for morphometric traits but not for traits more closely related to fitness. We discuss how these results are explained by underlying changes in variance components, and how they represent a major step in our understanding of evolutionary processes in wild populations. We also show how these trends contrast with the prevailing view resulting mainly from laboratory experiments on Drosophila. Finally, we underline the importance of taking into account the environmental variation in models predicting quantitative trait evolution. PMID:16011915

  12. Joint effects of pleiotropic selection and stabilizing selection on the maintenance of quantitative genetic variation at mutation-selection balance.

    PubMed Central

    Zhang, Xu-Sheng; Hill, William G

    2002-01-01

    In quantitative genetics, there are two basic "conflicting" observations: abundant polygenic variation and strong stabilizing selection that should rapidly deplete that variation. This conflict, although having attracted much theoretical attention, still stands open. Two classes of model have been proposed: real stabilizing selection directly on the metric trait under study and apparent stabilizing selection caused solely by the deleterious pleiotropic side effects of mutations on fitness. Here these models are combined and the total stabilizing selection observed is assumed to derive simultaneously through these two different mechanisms. Mutations have effects on a metric trait and on fitness, and both effects vary continuously. The genetic variance (V(G)) and the observed strength of total stabilizing selection (V(s,t)) are analyzed with a rare-alleles model. Both kinds of selection reduce V(G) but their roles in depleting it are not independent: The magnitude of pleiotropic selection depends on real stabilizing selection and such dependence is subject to the shape of the distributions of mutational effects. The genetic variation maintained thus depends on the kurtosis as well as the variance of mutational effects: All else being equal, V(G) increases with increasing leptokurtosis of mutational effects on fitness, while for a given distribution of mutational effects on fitness, V(G) decreases with increasing leptokurtosis of mutational effects on the trait. The V(G) and V(s,t) are determined primarily by real stabilizing selection while pleiotropic effects, which can be large, have only a limited impact. This finding provides some promise that a high heritability can be explained under strong total stabilizing selection for what are regarded as typical values of mutation and selection parameters. PMID:12242254

  13. Long-Range Regulatory Polymorphisms Affecting a GABA Receptor Constitute a Quantitative Trait Locus (QTL) for Social Behavior in Caenorhabditis elegans

    PubMed Central

    Bendesky, Andres; Pitts, Jason; Rockman, Matthew V.; Chen, William C.; Tan, Man-Wah; Kruglyak, Leonid; Bargmann, Cornelia I.

    2012-01-01

    Aggregation is a social behavior that varies between and within species, providing a model to study the genetic basis of behavioral diversity. In the nematode Caenorhabditis elegans, aggregation is regulated by environmental context and by two neuromodulatory pathways, one dependent on the neuropeptide receptor NPR-1 and one dependent on the TGF-β family protein DAF-7. To gain further insight into the genetic regulation of aggregation, we characterize natural variation underlying behavioral differences between two wild-type C. elegans strains, N2 and CB4856. Using quantitative genetic techniques, including a survey of chromosome substitution strains and QTL analysis of recombinant inbred lines, we identify three new QTLs affecting aggregation in addition to the two known N2 mutations in npr-1 and glb-5. Fine-mapping with near-isogenic lines localized one QTL, accounting for 5%–8% of the behavioral variance between N2 and CB4856, 3′ to the transcript of the GABA neurotransmitter receptor gene exp-1. Quantitative complementation tests demonstrated that this QTL affects exp-1, identifying exp-1 and GABA signaling as new regulators of aggregation. exp-1 interacts genetically with the daf-7 TGF-β pathway, which integrates food availability and population density, and exp-1 mutations affect the level of daf-7 expression. Our results add to growing evidence that genetic variation affecting neurotransmitter receptor genes is a source of natural behavioral variation. PMID:23284308

  14. Segregating YKU80 and TLC1 alleles underlying natural variation in telomere properties in wild yeast.

    PubMed

    Liti, Gianni; Haricharan, Svasti; Cubillos, Francisco A; Tierney, Anna L; Sharp, Sarah; Bertuch, Alison A; Parts, Leopold; Bailes, Elizabeth; Louis, Edward J

    2009-09-01

    In yeast, as in humans, telomere length varies among individuals and is controlled by multiple loci. In a quest to define the extent of variation in telomere length, we screened 112 wild-type Saccharomyces sensu stricto isolates. We found extensive telomere length variation in S. paradoxus isolates. This phenotype correlated with their geographic origin: European strains were observed to have extremely short telomeres (<150 bp), whereas American isolates had telomeres approximately three times as long (>400 bp). Insertions of a URA3 gene near telomeres allowed accurate analysis of individual telomere lengths and telomere position effect (TPE). Crossing the American and European strains resulted in F1 spores with a continuum of telomere lengths consistent with what would be predicted if many quantitative trait loci (QTLs) were involved in length maintenance. Variation in TPE is similarly quantitative but only weakly correlated with telomere length. Genotyping F1 segregants indicated several QTLs associated with telomere length and silencing variation. These QTLs include likely candidate genes but also map to regions where there are no known genes involved in telomeric properties. We detected transgressive segregation for both phenotypes. We validated by reciprocal hemizygosity that YKU80 and TLC1 are telomere-length QTLs in the two S. paradoxus subpopulations. Furthermore, we propose that sequence divergence within the Ku heterodimer generates negative epistasis within one of the allelic combinations (American-YKU70 and European-YKU80) resulting in very short telomeres.

  15. Segregating YKU80 and TLC1 Alleles Underlying Natural Variation in Telomere Properties in Wild Yeast

    PubMed Central

    Liti, Gianni; Haricharan, Svasti; Cubillos, Francisco A.; Tierney, Anna L.; Sharp, Sarah; Bertuch, Alison A.; Parts, Leopold; Bailes, Elizabeth; Louis, Edward J.

    2009-01-01

    In yeast, as in humans, telomere length varies among individuals and is controlled by multiple loci. In a quest to define the extent of variation in telomere length, we screened 112 wild-type Saccharomyces sensu stricto isolates. We found extensive telomere length variation in S. paradoxus isolates. This phenotype correlated with their geographic origin: European strains were observed to have extremely short telomeres (<150 bp), whereas American isolates had telomeres approximately three times as long (>400 bp). Insertions of a URA3 gene near telomeres allowed accurate analysis of individual telomere lengths and telomere position effect (TPE). Crossing the American and European strains resulted in F1 spores with a continuum of telomere lengths consistent with what would be predicted if many quantitative trait loci (QTLs) were involved in length maintenance. Variation in TPE is similarly quantitative but only weakly correlated with telomere length. Genotyping F1 segregants indicated several QTLs associated with telomere length and silencing variation. These QTLs include likely candidate genes but also map to regions where there are no known genes involved in telomeric properties. We detected transgressive segregation for both phenotypes. We validated by reciprocal hemizygosity that YKU80 and TLC1 are telomere-length QTLs in the two S. paradoxus subpopulations. Furthermore, we propose that sequence divergence within the Ku heterodimer generates negative epistasis within one of the allelic combinations (American-YKU70 and European-YKU80) resulting in very short telomeres. PMID:19763176

  16. Wavefront image sensor chip

    PubMed Central

    Cui, Xiquan; Ren, Jian; Tearney, Guillermo J.; Yang, Changhuei

    2010-01-01

    We report the implementation of an image sensor chip, termed wavefront image sensor chip (WIS), that can measure both intensity/amplitude and phase front variations of a light wave separately and quantitatively. By monitoring the tightly confined transmitted light spots through a circular aperture grid in a high Fresnel number regime, we can measure both intensity and phase front variations with a high sampling density (11 µm) and high sensitivity (the sensitivity of normalized phase gradient measurement is 0.1 mrad under the typical working condition). By using WIS in a standard microscope, we can collect both bright-field (transmitted light intensity) and normalized phase gradient images. Our experiments further demonstrate that the normalized phase gradient images of polystyrene microspheres, unstained and stained starfish embryos, and strongly birefringent potato starch granules are improved versions of their corresponding differential interference contrast (DIC) microscope images in that they are artifact-free and quantitative. Besides phase microscopy, WIS can benefit machine recognition, object ranging, and texture assessment for a variety of applications. PMID:20721059

  17. Genomic atlas of the human plasma proteome.

    PubMed

    Sun, Benjamin B; Maranville, Joseph C; Peters, James E; Stacey, David; Staley, James R; Blackshaw, James; Burgess, Stephen; Jiang, Tao; Paige, Ellie; Surendran, Praveen; Oliver-Williams, Clare; Kamat, Mihir A; Prins, Bram P; Wilcox, Sheri K; Zimmerman, Erik S; Chi, An; Bansal, Narinder; Spain, Sarah L; Wood, Angela M; Morrell, Nicholas W; Bradley, John R; Janjic, Nebojsa; Roberts, David J; Ouwehand, Willem H; Todd, John A; Soranzo, Nicole; Suhre, Karsten; Paul, Dirk S; Fox, Caroline S; Plenge, Robert M; Danesh, John; Runz, Heiko; Butterworth, Adam S

    2018-06-01

    Although plasma proteins have important roles in biological processes and are the direct targets of many drugs, the genetic factors that control inter-individual variation in plasma protein levels are not well understood. Here we characterize the genetic architecture of the human plasma proteome in healthy blood donors from the INTERVAL study. We identify 1,927 genetic associations with 1,478 proteins, a fourfold increase on existing knowledge, including trans associations for 1,104 proteins. To understand the consequences of perturbations in plasma protein levels, we apply an integrated approach that links genetic variation with biological pathway, disease, and drug databases. We show that protein quantitative trait loci overlap with gene expression quantitative trait loci, as well as with disease-associated loci, and find evidence that protein biomarkers have causal roles in disease using Mendelian randomization analysis. By linking genetic factors to diseases via specific proteins, our analyses highlight potential therapeutic targets, opportunities for matching existing drugs with new disease indications, and potential safety concerns for drugs under development.

  18. Rhythmic variation in heart rate and respiration rate during space flight - Apollo 15

    NASA Technical Reports Server (NTRS)

    Rummel, J. A.

    1974-01-01

    As part of the operational biomedical monitoring for Apollo manned missions, ECG and respiration rate are telemetered at selected intervals to mission control. The data were collected as part of this monitoring program. These data were evaluated for circadian and ultradian rhythmicity because of their uniqueness. The ability to detect and quantitate biorhythms in living systems during space flight is an important aspect of evaluating hypotheses concerning the underlying mechanisms of these phenomena. Circadian variation in heart rate during space flight is demonstrated here. In analyzing generated time series data it has been found that period discrimination is much better than the theoretical limit.

  19. Relation between modern pollen rain, vegetation and climate in northern China: Implications for quantitative vegetation reconstruction in a steppe environment.

    PubMed

    Ge, Yawen; Li, Yuecong; Bunting, M Jane; Li, Bing; Li, Zetao; Wang, Junting

    2017-05-15

    Vegetation reconstructions from palaeoecological records depend on adequate understanding of relationships between modern pollen, vegetation and climate. A key parameter for quantitative vegetation reconstructions is the Relative Pollen Productivity (RPP). Differences in both environmental and methodological factors are known to alter the RPP estimated significantly, making it difficult to determine whether the underlying pollen productivity does actually vary, and if so, why. In this paper, we present the results of a replication study for the Bashang steppe region, a typical steppe area in northern China, carried out in 2013 and 2014. In each year, 30 surface samples were collected for pollen analysis, with accompanying vegetation survey using the "Crackles Bequest Project" methodology. Sampling designs differed slightly between the two years: in 2013, sites were located completely randomly, whilst in 2014 sampling locations were constrained to be within a few km of roads. There is a strong inter-annual variability in both the pollen and the vegetation spectra therefore in RPPs, and annual precipitation may be a key influence on these variations. The pollen assemblages in both years are dominated by herbaceous taxa such as Artemisia, Amaranthaceae, Poaceae, Asteraceae, Cyperaceae, Fabaceae and Allium. Artemisia and Amaranthaceae pollen are significantly over-represented for their vegetation abundance. Poaceae, Cyperaceae and Fabaceae seem to have under-represented pollen for vegetation with correspondingly lower RPPs. Asteraceae seems to be well-represented, with moderate RPPs and less annual variation. Estimated Relevant Source Area of Pollen (RSAP) ranges from 2000 to 3000m. Different sampling designs have an effect both on RSAP and RPPs and random sample selection may be the best strategy for obtaining robust estimates. Our results have implications for further pollen-vegetation relationship and quantitative vegetation reconstruction research in typical steppe areas and in other open habitats with strong inter-annual variation. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Regulatory Architecture of Gene Expression Variation in the Threespine Stickleback Gasterosteus aculeatus.

    PubMed

    Pritchard, Victoria L; Viitaniemi, Heidi M; McCairns, R J Scott; Merilä, Juha; Nikinmaa, Mikko; Primmer, Craig R; Leder, Erica H

    2017-01-05

    Much adaptive evolutionary change is underlain by mutational variation in regions of the genome that regulate gene expression rather than in the coding regions of the genes themselves. An understanding of the role of gene expression variation in facilitating local adaptation will be aided by an understanding of underlying regulatory networks. Here, we characterize the genetic architecture of gene expression variation in the threespine stickleback (Gasterosteus aculeatus), an important model in the study of adaptive evolution. We collected transcriptomic and genomic data from 60 half-sib families using an expression microarray and genotyping-by-sequencing, and located expression quantitative trait loci (eQTL) underlying the variation in gene expression in liver tissue using an interval mapping approach. We identified eQTL for several thousand expression traits. Expression was influenced by polymorphism in both cis- and trans-regulatory regions. Trans-eQTL clustered into hotspots. We did not identify master transcriptional regulators in hotspot locations: rather, the presence of hotspots may be driven by complex interactions between multiple transcription factors. One observed hotspot colocated with a QTL recently found to underlie salinity tolerance in the threespine stickleback. However, most other observed hotspots did not colocate with regions of the genome known to be involved in adaptive divergence between marine and freshwater habitats. Copyright © 2017 Pritchard et al.

  1. Causal Genetic Variation Underlying Metabolome Differences.

    PubMed

    Swain-Lenz, Devjanee; Nikolskiy, Igor; Cheng, Jiye; Sudarsanam, Priya; Nayler, Darcy; Staller, Max V; Cohen, Barak A

    2017-08-01

    An ongoing challenge in biology is to predict the phenotypes of individuals from their genotypes. Genetic variants that cause disease often change an individual's total metabolite profile, or metabolome. In light of our extensive knowledge of metabolic pathways, genetic variants that alter the metabolome may help predict novel phenotypes. To link genetic variants to changes in the metabolome, we studied natural variation in the yeast Saccharomyces cerevisiae We used an untargeted mass spectrometry method to identify dozens of metabolite Quantitative Trait Loci (mQTL), genomic regions containing genetic variation that control differences in metabolite levels between individuals. We mapped differences in urea cycle metabolites to genetic variation in specific genes known to regulate amino acid biosynthesis. Our functional assays reveal that genetic variation in two genes, AUA1 and ARG81 , cause the differences in the abundance of several urea cycle metabolites. Based on knowledge of the urea cycle, we predicted and then validated a new phenotype: sensitivity to a particular class of amino acid isomers. Our results are a proof-of-concept that untargeted mass spectrometry can reveal links between natural genetic variants and metabolome diversity. The interpretability of our results demonstrates the promise of using genetic variants underlying natural differences in the metabolome to predict novel phenotypes from genotype. Copyright © 2017 by the Genetics Society of America.

  2. Regulatory Architecture of Gene Expression Variation in the Threespine Stickleback Gasterosteus aculeatus

    PubMed Central

    Pritchard, Victoria L.; Viitaniemi, Heidi M.; McCairns, R. J. Scott; Merilä, Juha; Nikinmaa, Mikko; Primmer, Craig R.; Leder, Erica H.

    2016-01-01

    Much adaptive evolutionary change is underlain by mutational variation in regions of the genome that regulate gene expression rather than in the coding regions of the genes themselves. An understanding of the role of gene expression variation in facilitating local adaptation will be aided by an understanding of underlying regulatory networks. Here, we characterize the genetic architecture of gene expression variation in the threespine stickleback (Gasterosteus aculeatus), an important model in the study of adaptive evolution. We collected transcriptomic and genomic data from 60 half-sib families using an expression microarray and genotyping-by-sequencing, and located expression quantitative trait loci (eQTL) underlying the variation in gene expression in liver tissue using an interval mapping approach. We identified eQTL for several thousand expression traits. Expression was influenced by polymorphism in both cis- and trans-regulatory regions. Trans-eQTL clustered into hotspots. We did not identify master transcriptional regulators in hotspot locations: rather, the presence of hotspots may be driven by complex interactions between multiple transcription factors. One observed hotspot colocated with a QTL recently found to underlie salinity tolerance in the threespine stickleback. However, most other observed hotspots did not colocate with regions of the genome known to be involved in adaptive divergence between marine and freshwater habitats. PMID:27836907

  3. Quantitative High-Resolution Genomic Analysis of Single Cancer Cells

    PubMed Central

    Hannemann, Juliane; Meyer-Staeckling, Sönke; Kemming, Dirk; Alpers, Iris; Joosse, Simon A.; Pospisil, Heike; Kurtz, Stefan; Görndt, Jennifer; Püschel, Klaus; Riethdorf, Sabine; Pantel, Klaus; Brandt, Burkhard

    2011-01-01

    During cancer progression, specific genomic aberrations arise that can determine the scope of the disease and can be used as predictive or prognostic markers. The detection of specific gene amplifications or deletions in single blood-borne or disseminated tumour cells that may give rise to the development of metastases is of great clinical interest but technically challenging. In this study, we present a method for quantitative high-resolution genomic analysis of single cells. Cells were isolated under permanent microscopic control followed by high-fidelity whole genome amplification and subsequent analyses by fine tiling array-CGH and qPCR. The assay was applied to single breast cancer cells to analyze the chromosomal region centred by the therapeutical relevant EGFR gene. This method allows precise quantitative analysis of copy number variations in single cell diagnostics. PMID:22140428

  4. Antagonistic versus non-antagonistic models of balancing selection: Characterizing the relative timescales and hitchhiking effects of partial selective sweeps

    PubMed Central

    Connallon, Tim; Clark, Andrew G.

    2012-01-01

    Antagonistically selected alleles -- those with opposing fitness effects between sexes, environments, or fitness components -- represent an important component of additive genetic variance in fitness-related traits, with stably balanced polymorphisms often hypothesized to contribute to observed quantitative genetic variation. Balancing selection hypotheses imply that intermediate-frequency alleles disproportionately contribute to genetic variance of life history traits and fitness. Such alleles may also associate with population genetic footprints of recent selection, including reduced genetic diversity and inflated linkage disequilibrium at linked, neutral sites. Here, we compare the evolutionary dynamics of different balancing selection models, and characterize the evolutionary timescale and hitchhiking effects of partial selective sweeps generated under antagonistic versus non-antagonistic (e.g., overdominant and frequency-dependent selection) processes. We show that that the evolutionary timescales of partial sweeps tend to be much longer, and hitchhiking effects are drastically weaker, under scenarios of antagonistic selection. These results predict an interesting mismatch between molecular population genetic and quantitative genetic patterns of variation. Balanced, antagonistically selected alleles are expected to contribute more to additive genetic variance for fitness than alleles maintained by classic, non-antagonistic mechanisms. Nevertheless, classical mechanisms of balancing selection are much more likely to generate strong population genetic signatures of recent balancing selection. PMID:23461340

  5. A three-component system incorporating Ppd-D1, copy number variation at Ppd-B1, and numerous small-effect quantitative trait loci facilitates adaptation of heading time in winter wheat cultivars of worldwide origin.

    PubMed

    Würschum, Tobias; Langer, Simon M; Longin, C Friedrich H; Tucker, Matthew R; Leiser, Willmar L

    2018-06-01

    The broad adaptability of heading time has contributed to the global success of wheat in a diverse array of climatic conditions. Here, we investigated the genetic architecture underlying heading time in a large panel of 1,110 winter wheat cultivars of worldwide origin. Genome-wide association mapping, in combination with the analysis of major phenology loci, revealed a three-component system that facilitates the adaptation of heading time in winter wheat. The photoperiod sensitivity locus Ppd-D1 was found to account for almost half of the genotypic variance in this panel and can advance or delay heading by many days. In addition, copy number variation at Ppd-B1 was the second most important source of variation in heading, explaining 8.3% of the genotypic variance. Results from association mapping and genomic prediction indicated that the remaining variation is attributed to numerous small-effect quantitative trait loci that facilitate fine-tuning of heading to the local climatic conditions. Collectively, our results underpin the importance of the two Ppd-1 loci for the adaptation of heading time in winter wheat and illustrate how the three components have been exploited for wheat breeding globally. © 2018 John Wiley & Sons Ltd.

  6. Genetic mapping of variation in dauer larvae development in growing populations of Caenorhabditis elegans.

    PubMed

    Green, J W M; Snoek, L B; Kammenga, J E; Harvey, S C

    2013-10-01

    In the nematode Caenorhabditis elegans, the appropriate induction of dauer larvae development within growing populations is likely to be a primary determinant of genotypic fitness. The underlying genetic architecture of natural genetic variation in dauer formation has, however, not been thoroughly investigated. Here, we report extensive natural genetic variation in dauer larvae development within growing populations across multiple wild isolates. Moreover, bin mapping of introgression lines (ILs) derived from the genetically divergent isolates N2 and CB4856 reveals 10 quantitative trait loci (QTLs) affecting dauer formation. Comparison of individual ILs to N2 identifies an additional eight QTLs, and sequential IL analysis reveals six more QTLs. Our results also show that a behavioural, laboratory-derived, mutation controlled by the neuropeptide Y receptor homolog npr-1 can affect dauer larvae development in growing populations. These findings illustrate the complex genetic architecture of variation in dauer larvae formation in C. elegans and may help to understand how the control of variation in dauer larvae development has evolved.

  7. Genetic interactions contribute less than additive effects to quantitative trait variation in yeast

    PubMed Central

    Bloom, Joshua S.; Kotenko, Iulia; Sadhu, Meru J.; Treusch, Sebastian; Albert, Frank W.; Kruglyak, Leonid

    2015-01-01

    Genetic mapping studies of quantitative traits typically focus on detecting loci that contribute additively to trait variation. Genetic interactions are often proposed as a contributing factor to trait variation, but the relative contribution of interactions to trait variation is a subject of debate. Here we use a very large cross between two yeast strains to accurately estimate the fraction of phenotypic variance due to pairwise QTL–QTL interactions for 20 quantitative traits. We find that this fraction is 9% on average, substantially less than the contribution of additive QTL (43%). Statistically significant QTL–QTL pairs typically have small individual effect sizes, but collectively explain 40% of the pairwise interaction variance. We show that pairwise interaction variance is largely explained by pairs of loci at least one of which has a significant additive effect. These results refine our understanding of the genetic architecture of quantitative traits and help guide future mapping studies. PMID:26537231

  8. Variation in seed dormancy quantitative trait loci in Arabidopsis thaliana originating from one site.

    PubMed

    Silady, Rebecca A; Effgen, Sigi; Koornneef, Maarten; Reymond, Matthieu

    2011-01-01

    A Quantitative Trait Locus (QTL) analysis was performed using two novel Recombinant Inbred Line (RIL) populations, derived from the progeny between two Arabidopsis thaliana genotypes collected at the same site in Kyoto (Japan) crossed with the reference laboratory strain Landsberg erecta (Ler). We used these two RIL populations to determine the genetic basis of seed dormancy and flowering time, which are assumed to be the main traits controlling life history variation in Arabidopsis. The analysis revealed quantitative variation for seed dormancy that is associated with allelic variation at the seed dormancy QTL DOG1 (for Delay Of Germination 1) in one population and at DOG6 in both. These DOG QTL have been previously identified using mapping populations derived from accessions collected at different sites around the world. Genetic variation within a population may enhance its ability to respond accurately to variation within and between seasons. In contrast, variation for flowering time, which also segregated within each mapping population, is mainly governed by the same QTL.

  9. The effect of induced mutations on quantitative traits in Arabidopsis thaliana: Natural versus artificial conditions.

    PubMed

    Stearns, Frank W; Fenster, Charles B

    2016-12-01

    Mutations are the ultimate source of all genetic variations. New mutations are expected to affect quantitative traits differently depending on the extent to which traits contribute to fitness and the environment in which they are tested. The dogma is that the preponderance of mutations affecting fitness will be skewed toward deleterious while their effects on nonfitness traits will be bidirectionally distributed. There are mixed views on the role of stress in modulating these effects. We quantify mutation effects by inducing mutations in Arabidopsis thaliana (Columbia accession) using the chemical ethylmethane sulfonate. We measured the effects of new mutations relative to a premutation founder for fitness components under both natural (field) and artificial (growth room) conditions. Additionally, we measured three other quantitative traits, not expected to contribute directly to fitness, under artificial conditions. We found that induced mutations were equally as likely to increase as decrease a trait when that trait was not closely related to fitness (traits that were neither survivorship nor reproduction). We also found that new mutations were more likely to decrease fitness or fitness-related traits under more stressful field conditions than under relatively benign artificial conditions. In the benign condition, the effect of new mutations on fitness components was similar to traits not as closely related to fitness. These results highlight the importance of measuring the effects of new mutations on fitness and other traits under a range of conditions.

  10. Genome-wide association study uncovers a novel QTL allele of AtS40-3 that affects the sex ratio of cyst nematodes in Arabidopsis.

    PubMed

    Anwer, Muhammad Arslan; Anjam, Muhammad Shahzad; Shah, Syed Jehangir; Hasan, M Shamim; Naz, Ali A; Grundler, Florian M W; Siddique, Shahid

    2018-03-24

    Plant-parasitic cyst nematodes are obligate sedentary parasites that infect the roots of a broad range of host plants. Cyst nematodes are sexually dimorphic, but differentiation into male or female is strongly influenced by interactions with the host environment. Female populations typically predominate under favorable conditions, whereas male populations predominate under adverse conditions. Here, we performed a genome-wide association study (GWAS) in an Arabidopsis diversity panel to identify host loci underlying variation in susceptibility to cyst nematode infection. Three different susceptibility parameters were examined, with the aim of providing insights into the infection process, the number of females and males present in the infected plant, and the female-to-male sex ratio. GWAS results suggested that variation in sex ratio is associated with a novel quantitative trait locus allele on chromosome 4. Subsequent candidate genes and functional analyses revealed that a senescence-associated transcription factor, AtS40-3, and PPR may act in combination to influence nematode sex ratio. A detailed molecular characterization revealed that variation in nematode sex ratio was due to the disturbed common promoter of AtS40-3 and PPR genes. Additionally, single nucleotide polymorphisms in the coding sequence of AtS40-3 might contribute to the natural variation in nematode sex ratio.

  11. A Quantitative Analysis of the Effects of Human Activities and Climate Change on Rainfall-Runoff in Xiaoqing River Basin

    NASA Astrophysics Data System (ADS)

    Yang, Y.; Cao, S.; Liu, C.; Liu, Y.

    2017-12-01

    It is a hot topic to study the effects of human activities on the rainfall-runoff relationship and quantitatively analyze the influencing factors. According to the flexibility of Copula function to capture multivariate interdependent structure, the Copula structure between rainfall and runoff was analyzed by using the rainfall-runoff variation test method based on Archimedean Copula function to diagnose the variation of rainfall-runoff relationship. The correlation of rainfall-runoff relationship could be directly analyzed by Copula function, which could intuitively display the change of runoff in the same rainfall before and after the mutation period. The statistical method was used to simulate the underlying surface conditions before the abrupt point, and the effects of climate change and human activities on runoff changes were calculated. It can finally figure out the effects of human activities on the rainfall-runoff relationship. Taking xiaoqing river for example, the results showed that the rainfall-runoff relationship in the Xiaoqing River Basin variated in 1996 mainly due to the continuous increase of water consumption in the watershed and the change of the runoff attenuation caused by the large-scale water conservancy projects. And interannual or annual change of rainfall was not obvious; compared with the year before the variation , the runoff capacity of the basin was weakened under the same rainfall conditions after the variation ; Rainfall and runoff distribution were significantly changed and the same magnitude of rainfall and probability of runoff change were significantly different in different periods; The statistical method was used to simulate the runoff from 1996 to 2016. Compared with that from 1960 to 1995, the result showed that the contribution rate of human activities to runoff reduction was 46.8% and that of climate change was 53.2%. By relevant reference, rainfall-runoff correlation and analysis of human activities, the result was verified to be reasonable. The study can be applied to other watersheds, or used to diagnose the variation of the relationship between meteorological elements and hydrological elements so as to provide scientific basis for rational exploitation and utilization of river water resources, as well as soil and water conservation.

  12. The Quantitative Reasoning for College Science (QuaRCS) Assessment: Emerging Themes from 5 Years of Data

    NASA Astrophysics Data System (ADS)

    Follette, Katherine; Dokter, Erin; Buxner, Sanlyn

    2018-01-01

    The Quantitative Reasoning for College Science (QuaRCS) Assessment is a validated assessment instrument that was designed to measure changes in students' quantitative reasoning skills, attitudes toward mathematics, and ability to accurately assess their own quantitative abilities. It has been administered to more than 5,000 students at a variety of institutions at the start and end of a semester of general education college science instruction. I will begin by briefly summarizing our published work surrounding validation of the instrument and identification of underlying attitudinal factors (composite variables identified via factor analysis) that predict 50% of the variation in students' scores on the assessment. I will then discuss more recent unpublished work, including: (1) Development and validation of an abbreviated version of the assessment (The QuaRCS Light), which results in marked improvements in students' ability to maintain a high effort level throughout the assessment and has broad implications for quantitative reasoning assessments in general, and (2) Our efforts to revise the attitudinal portion of the assessment to better assess math anxiety level, another key factor in student performance on numerical assessments.

  13. Physiological basis of genetic variation in leaf photosynthesis among rice (Oryza sativa L.) introgression lines under drought and well-watered conditions

    PubMed Central

    Yin, Xinyou

    2012-01-01

    To understand the physiological basis of genetic variation and resulting quantitative trait loci (QTLs) for photosynthesis in a rice (Oryza sativa L.) introgression line population, 13 lines were studied under drought and well-watered conditions, at flowering and grain filling. Simultaneous gas exchange and chlorophyll fluorescence measurements were conducted at various levels of incident irradiance and ambient CO2 to estimate parameters of a model that dissects photosynthesis into stomatal conductance (g s), mesophyll conductance (g m), electron transport capacity (J max), and Rubisco carboxylation capacity (V cmax). Significant genetic variation in these parameters was found, although drought and leaf age accounted for larger proportions of the total variation. Genetic variation in light-saturated photosynthesis and transpiration efficiency (TE) were mainly associated with variation in g s and g m. One previously mapped major QTL of photosynthesis was associated with variation in g s and g m, but also in J max and V cmax at flowering. Thus, g s and g m, which were demonstrated in the literature to be responsible for environmental variation in photosynthesis, were found also to be associated with genetic variation in photosynthesis. Furthermore, relationships between these parameters and leaf nitrogen or dry matter per unit area, which were previously found across environmental treatments, were shown to be valid for variation across genotypes. Finally, the extent to which photosynthesis rate and TE can be improved was evaluated. Virtual ideotypes were estimated to have 17.0% higher photosynthesis and 25.1% higher TE compared with the best genotype investigated. This analysis using introgression lines highlights possibilities of improving both photosynthesis and TE within the same genetic background. PMID:22888131

  14. CaGLK2 regulates natural variation of chlorophyll content and fruit color in pepper fruit.

    PubMed

    Brand, Arnon; Borovsky, Yelena; Hill, Theresa; Rahman, Khalis Afnan Abdul; Bellalou, Aharon; Van Deynze, Allen; Paran, Ilan

    2014-10-01

    We provide multiple evidences that CaGLK2 underlies a quantitative trait locus controlling natural variation in chlorophyll content and immature fruit color of pepper via modulating chloroplast compartment size. Pepper fruit quality is attributed to a variety of traits, affecting visual appearance, flavor, chemical composition and nutritional value. Among the quality traits, fruit color is of primary importance because the pigments that confer color are associated with nutrition, health and flavor. Although gene models have been proposed for qualitative aspects of fruit color, large natural variation in quantitative pigment content and fruit color exists in pepper. However, its genetic basis is largely unknown which hampers its utilization for plant improvement. We studied the role of GLK2, a GOLDEN2-like transcription factor that regulates chloroplast development in controlling natural variation for chlorophyll content and immature fruit color of pepper. The role of GLK2 in regulating fruit development has been studied previously in tomato using ectopic expression and the uniform ripening mutant analyses. However, pepper provides a unique opportunity to further study the function of this gene because of the wide natural variation of fruit colors in this species. Segregation, sequencing and expression analyses indicated that pepper GLK2 (CaGLK2) corresponds to the recently reported pc10 QTL that controls chloroplast development and chlorophyll content in pepper. CaGLK2 exerts its effect on chloroplast compartment size predominantly during immature fruit development. We show that the genetic background, sequence variation and expression pattern confer a complex and multi-level regulation of CaGLK2 and fruit color in Capsicum. The positive effect on fruit quality predominantly at the green stage conferred by CaGLK2 can be utilized to breed green pepper varieties with improved nutritional values and taste.

  15. In operando quantitation of Li concentration for a commercial Li-ion rechargeable battery using high-energy X-ray Compton scattering.

    PubMed

    Suzuki, Kosuke; Suzuki, Ayahito; Ishikawa, Taiki; Itou, Masayoshi; Yamashige, Hisao; Orikasa, Yuki; Uchimoto, Yoshiharu; Sakurai, Yoshiharu; Sakurai, Hiroshi

    2017-09-01

    Compton scattering is one of the most promising probes for quantitating Li under in operando conditions, since high-energy X-rays, which have high penetration power, are used as the incident beam and the Compton-scattered energy spectrum has specific line-shapes for each element. An in operando quantitation method to determine the Li composition in electrodes has been developed by using line-shape (S-parameter) analysis of the Compton-scattered energy spectrum. In this study, S-parameter analysis has been applied to a commercial coin cell Li-ion rechargeable battery and the variation of the S-parameters during the charge/discharge cycle at the positive and negative electrodes has been obtained. By using calibration curves for Li composition in the electrodes, the change in Li composition of the positive and negative electrodes has been determined using the S-parameters simultaneously.

  16. Highly polygenic variation in environmental perception determines dauer larvae formation in growing populations of Caenorhabditis elegans.

    PubMed

    Green, James W M; Stastna, Jana J; Orbidans, Helen E; Harvey, Simon C

    2014-01-01

    Determining how complex traits are genetically controlled is a requirement if we are to predict how they evolve and how they might respond to selection. This requires understanding how distinct, and often more simple, life history traits interact and change in response to environmental conditions. In order to begin addressing such issues, we have been analyzing the formation of the developmentally arrested dauer larvae of Caenorhabditis elegans under different conditions. We find that 18 of 22 previously identified quantitative trait loci (QTLs) affecting dauer larvae formation in growing populations, assayed by determining the number of dauer larvae present at food patch exhaustion, can be recovered under various environmental conditions. We also show that food patch size affects both the ability to detect QTLs and estimates of effect size, and demonstrate that an allele of nath-10 affects dauer larvae formation in growing populations. To investigate the component traits that affect dauer larvae formation in growing populations we map, using the same introgression lines, QTLs that affect dauer larvae formation in response to defined amounts of pheromone. This identifies 36 QTLs, again demonstrating the highly polygenic nature of the genetic variation underlying dauer larvae formation. These data indicate that QTLs affecting the number of dauer larvae at food exhaustion in growing populations of C. elegans are highly reproducible, and that nearly all can be explained by variation affecting dauer larvae formation in response to defined amounts of pheromone. This suggests that most variation in dauer larvae formation in growing populations is a consequence of variation in the perception of the food and pheromone environment (i.e. chemosensory variation) and in the integration of these cues.

  17. Development and Assessment of Modules to Integrate Quantitative Skills in Introductory Biology Courses.

    PubMed

    Hoffman, Kathleen; Leupen, Sarah; Dowell, Kathy; Kephart, Kerrie; Leips, Jeff

    2016-01-01

    Redesigning undergraduate biology courses to integrate quantitative reasoning and skill development is critical to prepare students for careers in modern medicine and scientific research. In this paper, we report on the development, implementation, and assessment of stand-alone modules that integrate quantitative reasoning into introductory biology courses. Modules are designed to improve skills in quantitative numeracy, interpreting data sets using visual tools, and making inferences about biological phenomena using mathematical/statistical models. We also examine demographic/background data that predict student improvement in these skills through exposure to these modules. We carried out pre/postassessment tests across four semesters and used student interviews in one semester to examine how students at different levels approached quantitative problems. We found that students improved in all skills in most semesters, although there was variation in the degree of improvement among skills from semester to semester. One demographic variable, transfer status, stood out as a major predictor of the degree to which students improved (transfer students achieved much lower gains every semester, despite the fact that pretest scores in each focus area were similar between transfer and nontransfer students). We propose that increased exposure to quantitative skill development in biology courses is effective at building competency in quantitative reasoning. © 2016 K. Hoffman, S. Leupen, et al. CBE—Life Sciences Education © 2016 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).

  18. Beyond Punnett Squares: Student Word Association and Explanations of Phenotypic Variation through an Integrative Quantitative Genetics Unit Investigating Anthocyanin Inheritance and Expression in Brassica rapa Fast Plants

    PubMed Central

    Smith, Amber R.; Williams, Paul H.; McGee, Seth A.; Dósa, Katalin; Pfammatter, Jesse

    2014-01-01

    Genetics instruction in introductory biology is often confined to Mendelian genetics and avoids the complexities of variation in quantitative traits. Given the driving question “What determines variation in phenotype (Pv)? (Pv=Genotypic variation Gv + environmental variation Ev),” we developed a 4-wk unit for an inquiry-based laboratory course focused on the inheritance and expression of a quantitative trait in varying environments. We utilized Brassica rapa Fast Plants as a model organism to study variation in the phenotype anthocyanin pigment intensity. As an initial curriculum assessment, we used free word association to examine students’ cognitive structures before and after the unit and explanations in students’ final research posters with particular focus on variation (Pv = Gv + Ev). Comparison of pre- and postunit word frequency revealed a shift in words and a pattern of co-occurring concepts indicative of change in cognitive structure, with particular focus on “variation” as a proposed threshold concept and primary goal for students’ explanations. Given review of 53 posters, we found ∼50% of students capable of intermediate to high-level explanations combining both Gv and Ev influence on expression of anthocyanin intensity (Pv). While far from “plug and play,” this conceptually rich, inquiry-based unit holds promise for effective integration of quantitative and Mendelian genetics. PMID:25185225

  19. Study of electric field distorted by space charges under positive lightning impulse voltage

    NASA Astrophysics Data System (ADS)

    Wang, Zezhong; Geng, Yinan

    2018-03-01

    Actually, many insulation problems are related to electric fields. And measuring electric fields is an important research topic of high-voltage engineering. In particular, the electric field distortion caused by space charge is the basis of streamer theory, and thus quantitatively measuring the Poisson electric field caused by space charge is significant to researching the mechanism of air gap discharge. In this paper, we used our photoelectric integrated sensor to measure the electric field distribution in a 1-m rod-plane gap under positive lightning impulse voltage. To verify the reliability of this quantitative measurement, we compared the measured results with calculated results from a numerical simulation. The electric-field time domain waveforms on the axis of the 1-m rod-plane out of the space charge zone were measured with various electrodes. The Poisson electric fields generated by space charge were separated from the Laplace electric field generated by applied voltages, and the amplitudes and variations were measured for various applied voltages and at various locations. This work also supplies the feasible basis for directly measuring strong electric field under high voltage.

  20. Temporal Variation in Single-Cell Power-Law Rheology Spans the Ensemble Variation of Cell Population.

    PubMed

    Cai, PingGen; Takahashi, Ryosuke; Kuribayashi-Shigetomi, Kaori; Subagyo, Agus; Sueoka, Kazuhisa; Maloney, John M; Van Vliet, Krystyn J; Okajima, Takaharu

    2017-08-08

    Changes in the cytoskeletal organization within cells can be characterized by large spatial and temporal variations in rheological properties of the cell (e.g., the complex shear modulus G ∗ ). Although the ensemble variation in G ∗ of single cells has been elucidated, the detailed temporal variation of G ∗ remains unknown. In this study, we investigated how the rheological properties of individual fibroblast cells change under a spatially confined environment in which the cell translational motion is highly restricted and the whole cell shape remains unchanged. The temporal evolution of single-cell rheology was probed at the same measurement location within the cell, using atomic force microscopy-based oscillatory deformation. The measurements reveal that the temporal variation in the power-law rheology of cells is quantitatively consistent with the ensemble variation, indicating that the cell system satisfies an ergodic hypothesis in which the temporal statistics are identical to the ensemble statistics. The autocorrelation of G ∗ implies that the cell mechanical state evolves in the ensemble of possible states with a characteristic timescale. Copyright © 2017 Biophysical Society. Published by Elsevier Inc. All rights reserved.

  1. Polarization variations in installed fibers and their influence on quantum key distribution systems.

    PubMed

    Ding, Yu-Yang; Chen, Hua; Wang, Shuang; He, De-Yong; Yin, Zhen-Qiang; Chen, Wei; Zhou, Zheng; Guo, Guang-Can; Han, Zheng-Fu

    2017-10-30

    Polarization variations in the installed fibers are complex and volatile, and would severely affect the performances of polarization-sensitive quantum key distribution (QKD) systems. Based on the recorded data about polarization variations of different installed fibers, we establish an analytical methodology to quantitatively evaluate the influence of polarization variations on polarization-sensitive QKD systems. Using the increased quantum bit error rate induced by polarization variations as a key criteria, we propose two parameters - polarization drift time and required tracking speed - to characterize polarization variations. For field buried and aerial fibers with different length, we quantitatively evaluate the influence of polarization variations, and also provide requirements and suggestions for polarization basis alignment modules of QKD systems deployed in different kind of fibers.

  2. Genetic variation affecting host-parasite interactions: major-effect quantitative trait loci affect the transmission of sigma virus in Drosophila melanogaster.

    PubMed

    Bangham, Jenny; Knott, Sara A; Kim, Kang-Wook; Young, Robert S; Jiggins, Francis M

    2008-09-01

    In natural populations, genetic variation affects resistance to disease. Whether that genetic variation comprises lots of small-effect polymorphisms or a small number of large-effect polymorphisms has implications for adaptation, selection and how genetic variation is maintained in populations. Furthermore, how much genetic variation there is, and the genes that underlie this variation, affects models of co-evolution between parasites and their hosts. We are studying the genetic variation that affects the resistance of Drosophila melanogaster to its natural pathogen--the vertically transmitted sigma virus. We have carried out three separate quantitative trait locus mapping analyses to map gene variants on the second chromosome that cause variation in the rate at which males transmit the infection to their offspring. All three crosses identified a locus in a similar chromosomal location that causes a large drop in the rate at which the virus is transmitted. We also found evidence for an additional smaller-effect quantitative trait locus elsewhere on the chromosome. Our data, together with previous experiments on the sigma virus and parasitoid wasps, indicate that the resistance of D. melanogaster to co-evolved pathogens is controlled by a limited number of major-effect polymorphisms.

  3. Genetic variation facilitates seedling establishment but not population growth rate of a perennial invader

    PubMed Central

    Li, Shou-Li; Vasemägi, Anti; Ramula, Satu

    2016-01-01

    Background and Aims Assessing the demographic consequences of genetic variation is fundamental to invasion biology. However, genetic and demographic approaches are rarely combined to explore the effects of genetic variation on invasive populations in natural environments. This study combined population genetics, demographic data and a greenhouse experiment to investigate the consequences of genetic variation for the population fitness of the perennial, invasive herb Lupinus polyphyllus. Methods Genetic and demographic data were collected from 37 L. polyphyllus populations representing different latitudes in Finland, and genetic variation was characterized based on 13 microsatellite loci. Associations between genetic variation and population size, population density, latitude and habitat were investigated. Genetic variation was then explored in relation to four fitness components (establishment, survival, growth, fecundity) measured at the population level, and the long-term population growth rate (λ). For a subset of populations genetic variation was also examined in relation to the temporal variability of λ. A further assessment was made of the role of natural selection in the observed variation of certain fitness components among populations under greenhouse conditions. Key Results It was found that genetic variation correlated positively with population size, particularly at higher latitudes, and differed among habitat types. Average seedling establishment per population increased with genetic variation in the field, but not under greenhouse conditions. Quantitative genetic divergence (QST) based on seedling establishment in the greenhouse was smaller than allelic genetic divergence (F′ST), indicating that unifying selection has a prominent role in this fitness component. Genetic variation was not associated with average survival, growth or fecundity measured at the population level, λ or its variability. Conclusions The study suggests that although genetic variation may facilitate plant invasions by increasing seedling establishment, it may not necessarily affect the long-term population growth rate. Therefore, established invasions may be able to grow equally well regardless of their genetic diversity. PMID:26420202

  4. [Genetic characteristics associated with drought tolerance of plant height and thousand-grain mass of recombinant inbred lines of wheat].

    PubMed

    Yang, De-Long; Zhang, Guo-Hong; Li, Xing-Mao; Xing, Hua; Cheng, Hong-Bo; Ni, Sheng-Li; Chen, Xiao-Ping

    2012-06-01

    A total of 120 recombinant inbred lines (RIL) derived from Chinese winter wheat cultivars Longjian 19xQ9086 and the two parents were taken as test materials to study the quantitative genetics characteristics of their plant height at different development stages, thousand-grain mass, as well as the correlations between the two traits under rainfed (drought stress) and well-watered conditions, and evaluate the genetic variation of the RIL. Under the two water conditions, the target traits of the RIL showed substantial transgressive segregation and great sensitivity to water condition. The drought stress coefficient of the plant height was higher at jointing stage, being up to 0.851. There was a significant positive correlation between the plant height at different development stages and the thousand-grain mass, and comparing with that at other growth stages, the plant height at jointing stage had a higher correlation coefficient with the thousand-grain mass (R2DS = 0.32, R2WW = 0.28). The plant height at both jointing and flowering stages had significant positive and direct effect but negative and indirect gross effect on the thousand-grain mass, while the plant height at heading and maturing stages was in adverse. The target traits showed a lower heritability ranged from 0.27 to 0.60. The numbers of the gene pairs controlling the thousand-grain mass were 10 under rainfed and 13 under well-watered conditions, while those of the gene pairs controlling the plant height at different development stages were 3-7 under rainfed and 4-14 under well-watered conditions, respectively. According to the clustering of the drought stress coefficient of plant height, the RIL could be classified into five subgroups, showing the abundant variation of the RIL in their phe- notypes and in the sensitivity to water condition. It was considered that the test RIL were appropriate for the study of the quantitative genetics of wheat drought resistance.

  5. Heritabilities of Directional Asymmetry in the Fore- and Hindlimbs of Rabbit Fetuses

    PubMed Central

    Breno, Matteo; Bots, Jessica; Van Dongen, Stefan

    2013-01-01

    Directional asymmetry (DA), where at the population level symmetry differs from zero, has been reported in a wide range of traits and taxa, even for traits in which symmetry is expected to be the target of selection such as limbs or wings. In invertebrates, DA has been suggested to be non-adaptive. In vertebrates, there has been a wealth of research linking morphological asymmetry to behavioural lateralisation. On the other hand, the prenatal expression of DA and evidences for quantitative genetic variation for asymmetry may suggest it is not solely induced by differences in mechanic loading between sides. We estimate quantitative genetic variation of fetal limb asymmetry in a large dataset of rabbits. Our results showed a low but highly significant level of DA that is partially under genetic control for all traits, with forelimbs displaying higher levels of asymmetry. Genetic correlations were positive within limbs, but negative across bones of fore and hind limbs. Environmental correlations were positive for all, but smaller across fore and hind limbs. We discuss our results in light of the existence and maintenance of DA in locomotory traits. PMID:24130770

  6. MEM spectral analysis for predicting influenza epidemics in Japan.

    PubMed

    Sumi, Ayako; Kamo, Ken-ichi

    2012-03-01

    The prediction of influenza epidemics has long been the focus of attention in epidemiology and mathematical biology. In this study, we tested whether time series analysis was useful for predicting the incidence of influenza in Japan. The method of time series analysis we used consists of spectral analysis based on the maximum entropy method (MEM) in the frequency domain and the nonlinear least squares method in the time domain. Using this time series analysis, we analyzed the incidence data of influenza in Japan from January 1948 to December 1998; these data are unique in that they covered the periods of pandemics in Japan in 1957, 1968, and 1977. On the basis of the MEM spectral analysis, we identified the periodic modes explaining the underlying variations of the incidence data. The optimum least squares fitting (LSF) curve calculated with the periodic modes reproduced the underlying variation of the incidence data. An extension of the LSF curve could be used to predict the incidence of influenza quantitatively. Our study suggested that MEM spectral analysis would allow us to model temporal variations of influenza epidemics with multiple periodic modes much more effectively than by using the method of conventional time series analysis, which has been used previously to investigate the behavior of temporal variations in influenza data.

  7. Variations of leaf longevity in tropical moist forests predicted by a trait-driven carbon optimality model

    DOE PAGES

    Xu, Xiangtao; Medvigy, David; Wright, Stuart Joseph; ...

    2017-07-04

    Leaf longevity (LL) varies more than 20-fold in tropical evergreen forests, but it remains unclear how to capture these variations using predictive models. Current theories of LL that are based on carbon optimisation principles are challenging to quantitatively assess because of uncertainty across species in the ‘ageing rate:’ the rate at which leaf photosynthetic capacity declines with age. Here in this paper, we present a meta-analysis of 49 species across temperate and tropical biomes, demonstrating that the ageing rate of photosynthetic capacity is positively correlated with the mass-based carboxylation rate of mature leaves. We assess an improved trait-driven carbon optimalitymore » model with in situLL data for 105 species in two Panamanian forests. Additionally, we show that our model explains over 40% of the cross-species variation in LL under contrasting light environment. Collectively, our results reveal how variation in LL emerges from carbon optimisation constrained by both leaf structural traits and abiotic environment.« less

  8. Variations of leaf longevity in tropical moist forests predicted by a trait-driven carbon optimality model

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

    Xu, Xiangtao; Medvigy, David; Wright, Stuart Joseph

    Leaf longevity (LL) varies more than 20-fold in tropical evergreen forests, but it remains unclear how to capture these variations using predictive models. Current theories of LL that are based on carbon optimisation principles are challenging to quantitatively assess because of uncertainty across species in the ‘ageing rate:’ the rate at which leaf photosynthetic capacity declines with age. Here in this paper, we present a meta-analysis of 49 species across temperate and tropical biomes, demonstrating that the ageing rate of photosynthetic capacity is positively correlated with the mass-based carboxylation rate of mature leaves. We assess an improved trait-driven carbon optimalitymore » model with in situLL data for 105 species in two Panamanian forests. Additionally, we show that our model explains over 40% of the cross-species variation in LL under contrasting light environment. Collectively, our results reveal how variation in LL emerges from carbon optimisation constrained by both leaf structural traits and abiotic environment.« less

  9. Variation in Leaf Respiration Rates at Night Correlates with Carbohydrate and Amino Acid Supply1[OPEN

    PubMed Central

    Lee, Chun Pong; Cheng, Riyan

    2017-01-01

    Plant respiration can theoretically be fueled by and dependent upon an array of central metabolism components; however, which ones are responsible for the quantitative variation found in respiratory rates is unknown. Here, large-scale screens revealed 2-fold variation in nighttime leaf respiration rate (RN) among mature leaves from an Arabidopsis (Arabidopsis thaliana) natural accession collection grown under common favorable conditions. RN variation was mostly maintained in the absence of genetic variation, which emphasized the low heritability of RN and its plasticity toward relatively small environmental differences within the sampling regime. To pursue metabolic explanations for leaf RN variation, parallel metabolite level profiling and assays of total protein and starch were performed. Within an accession, RN correlated strongly with stored carbon substrates, including starch and dicarboxylic acids, as well as sucrose, major amino acids, shikimate, and salicylic acid. Among different accessions, metabolite-RN correlations were maintained with protein, sucrose, and major amino acids but not stored carbon substrates. A complementary screen of the effect of exogenous metabolites and effectors on leaf RN revealed that (1) RN is stimulated by the uncoupler FCCP and high levels of substrates, demonstrating that both adenylate turnover and substrate supply can limit leaf RN, and (2) inorganic nitrogen did not stimulate RN, consistent with limited nighttime nitrogen assimilation. Simultaneous measurements of RN and protein synthesis revealed that these processes were largely uncorrelated in mature leaves. These results indicate that differences in preceding daytime metabolic activities are the major source of variation in mature leaf RN under favorable controlled conditions. PMID:28615345

  10. Enantioselective reductive transformation of climbazole: A concept towards quantitative biodegradation assessment in anaerobic biological treatment processes.

    PubMed

    Brienza, Monica; Chiron, Serge

    2017-06-01

    An efficient chiral method-based using liquid chromatography-high resolution-mass spectrometry analytical method has been validated for the determination of climbazole (CBZ) enantiomers in wastewater and sludge with quantification limits below the 1 ng/L and 2 ng/g range, respectively. On the basis of this newly developed analytical method, the stereochemistry of CBZ was investigated over time in sludge biotic and sterile batch experiments under anoxic dark and light conditions and during wastewater biological treatment by subsurface flow constructed wetlands. CBZ stereoselective degradation was exclusively observed under biotic conditions, confirming the specificity of enantiomeric fraction variations to biodegradation processes. Abiotic CBZ enantiomerization was insignificant at circumneutral pH and CBZ was always biotransformed into CBZ-alcohol due to the specific and enantioselective reduction of the ketone function of CBZ into a secondary alcohol function. This transformation was almost quantitative and biodegradation gave good first order kinetic fit for both enantiomers. The possibility to apply the Rayleigh equation to enantioselective CBZ biodegradation processes was investigated. The results of enantiomeric enrichment allowed for a quantitative assessment of in situ biodegradation processes due to a good fit (R 2  > 0.96) of the anoxic/anaerobic CBZ biodegradation to the Rayleigh dependency in all the biotic microcosms and was also applied in subsurface flow constructed wetlands. This work extended the concept of applying the Rayleigh equation towards quantitative biodegradation assessment of organic contaminants to enantioselective processes operating under anoxic/anaerobic conditions. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Heterochrony underpins natural variation in Cardamine hirsuta leaf form

    PubMed Central

    Cartolano, Maria; Pieper, Bjorn; Lempe, Janne; Tattersall, Alex; Huijser, Peter; Tresch, Achim; Darrah, Peter R.; Hay, Angela; Tsiantis, Miltos

    2015-01-01

    A key problem in biology is whether the same processes underlie morphological variation between and within species. Here, by using plant leaves as an example, we show that the causes of diversity at these two evolutionary scales can be divergent. Some species like the model plant Arabidopsis thaliana have simple leaves, whereas others like the A. thaliana relative Cardamine hirsuta bear complex leaves comprising leaflets. Previous work has shown that these interspecific differences result mostly from variation in local tissue growth and patterning. Now, by cloning and characterizing a quantitative trait locus (QTL) for C. hirsuta leaf shape, we find that a different process, age-dependent progression of leaf form, underlies variation in this trait within species. This QTL effect is caused by cis-regulatory variation in the floral repressor ChFLC, such that genotypes with low-expressing ChFLC alleles show both early flowering and accelerated age-dependent changes in leaf form, including faster leaflet production. We provide evidence that this mechanism coordinates leaf development with reproductive timing and may help to optimize resource allocation to the next generation. PMID:26243877

  12. Defining the consequences of genetic variation on a proteome–wide scale

    PubMed Central

    Chick, Joel M.; Munger, Steven C.; Simecek, Petr; Huttlin, Edward L.; Choi, Kwangbom; Gatti, Daniel M.; Raghupathy, Narayanan; Svenson, Karen L.; Churchill, Gary A.; Gygi, Steven P.

    2016-01-01

    Genetic variation modulates protein expression through both transcriptional and post-transcriptional mechanisms. To characterize the consequences of natural genetic diversity on the proteome, here we combine a multiplexed, mass spectrometry-based method for protein quantification with an emerging outbred mouse model containing extensive genetic variation from eight inbred founder strains. By measuring genome-wide transcript and protein expression in livers from 192 Diversity outbred mice, we identify 2,866 protein quantitative trait loci (pQTL) with twice as many local as distant genetic variants. These data support distinct transcriptional and post-transcriptional models underlying the observed pQTL effects. Using a sensitive approach to mediation analysis, we often identified a second protein or transcript as the causal mediator of distant pQTL. Our analysis reveals an extensive network of direct protein–protein interactions. Finally, we show that local genotype can provide accurate predictions of protein abundance in an independent cohort of collaborative cross mice. PMID:27309819

  13. Genetic validation of whole-transcriptome sequencing for mapping expression affected by cis-regulatory variation.

    PubMed

    Babak, Tomas; Garrett-Engele, Philip; Armour, Christopher D; Raymond, Christopher K; Keller, Mark P; Chen, Ronghua; Rohl, Carol A; Johnson, Jason M; Attie, Alan D; Fraser, Hunter B; Schadt, Eric E

    2010-08-13

    Identifying associations between genotypes and gene expression levels using microarrays has enabled systematic interrogation of regulatory variation underlying complex phenotypes. This approach has vast potential for functional characterization of disease states, but its prohibitive cost, given hundreds to thousands of individual samples from populations have to be genotyped and expression profiled, has limited its widespread application. Here we demonstrate that genomic regions with allele-specific expression (ASE) detected by sequencing cDNA are highly enriched for cis-acting expression quantitative trait loci (cis-eQTL) identified by profiling of 500 animals in parallel, with up to 90% agreement on the allele that is preferentially expressed. We also observed widespread noncoding and antisense ASE and identified several allele-specific alternative splicing variants. Monitoring ASE by sequencing cDNA from as little as one sample is a practical alternative to expression genetics for mapping cis-acting variation that regulates RNA transcription and processing.

  14. Microfluidic-Based Measurement Method of Red Blood Cell Aggregation under Hematocrit Variations

    PubMed Central

    2017-01-01

    Red blood cell (RBC) aggregation and erythrocyte sedimentation rate (ESR) are considered to be promising biomarkers for effectively monitoring blood rheology at extremely low shear rates. In this study, a microfluidic-based measurement technique is suggested to evaluate RBC aggregation under hematocrit variations due to the continuous ESR. After the pipette tip is tightly fitted into an inlet port, a disposable suction pump is connected to the outlet port through a polyethylene tube. After dropping blood (approximately 0.2 mL) into the pipette tip, the blood flow can be started and stopped by periodically operating a pinch valve. To evaluate variations in RBC aggregation due to the continuous ESR, an EAI (Erythrocyte-sedimentation-rate Aggregation Index) is newly suggested, which uses temporal variations of image intensity. To demonstrate the proposed method, the dynamic characterization of the disposable suction pump is first quantitatively measured by varying the hematocrit levels and cavity volume of the suction pump. Next, variations in RBC aggregation and ESR are quantified by varying the hematocrit levels. The conventional aggregation index (AI) is maintained constant, unrelated to the hematocrit values. However, the EAI significantly decreased with respect to the hematocrit values. Thus, the EAI is more effective than the AI for monitoring variations in RBC aggregation due to the ESR. Lastly, the proposed method is employed to detect aggregated blood and thermally-induced blood. The EAI gradually increased as the concentration of a dextran solution increased. In addition, the EAI significantly decreased for thermally-induced blood. From this experimental demonstration, the proposed method is able to effectively measure variations in RBC aggregation due to continuous hematocrit variations, especially by quantifying the EAI. PMID:28878199

  15. Two-phase designs for joint quantitative-trait-dependent and genotype-dependent sampling in post-GWAS regional sequencing.

    PubMed

    Espin-Garcia, Osvaldo; Craiu, Radu V; Bull, Shelley B

    2018-02-01

    We evaluate two-phase designs to follow-up findings from genome-wide association study (GWAS) when the cost of regional sequencing in the entire cohort is prohibitive. We develop novel expectation-maximization-based inference under a semiparametric maximum likelihood formulation tailored for post-GWAS inference. A GWAS-SNP (where SNP is single nucleotide polymorphism) serves as a surrogate covariate in inferring association between a sequence variant and a normally distributed quantitative trait (QT). We assess test validity and quantify efficiency and power of joint QT-SNP-dependent sampling and analysis under alternative sample allocations by simulations. Joint allocation balanced on SNP genotype and extreme-QT strata yields significant power improvements compared to marginal QT- or SNP-based allocations. We illustrate the proposed method and evaluate the sensitivity of sample allocation to sampling variation using data from a sequencing study of systolic blood pressure. © 2017 The Authors. Genetic Epidemiology Published by Wiley Periodicals, Inc.

  16. Copy number variation identification and analysis of the chicken genome using a 60K SNP BeadChip.

    PubMed

    Rao, Y S; Li, J; Zhang, R; Lin, X R; Xu, J G; Xie, L; Xu, Z Q; Wang, L; Gan, J K; Xie, X J; He, J; Zhang, X Q

    2016-08-01

    Copy number variation (CNV) is an important source of genetic variation in organisms and a main factor that affects phenotypic variation. A comprehensive study of chicken CNV can provide valuable information on genetic diversity and facilitate future analyses of associations between CNV and economically important traits in chickens. In the present study, an F2 full-sib chicken population (554 individuals), established from a cross between Xinghua and White Recessive Rock chickens, was used to explore CNV in the chicken genome. Genotyping was performed using a chicken 60K SNP BeadChip. A total of 1,875 CNV were detected with the PennCNV algorithm, and the average number of CNV was 3.42 per individual. The CNV were distributed across 383 independent CNV regions (CNVR) and covered 41 megabases (3.97%) of the chicken genome. Seven CNVR in 108 individuals were validated by quantitative real-time PCR, and 81 of these individuals (75%) also were detected with the PennCNV algorithm. In total, 274 CNVR (71.54%) identified in the current study were previously reported. Of these, 147 (38.38%) were reported in at least 2 studies. Additionally, 109 of the CNVR (28.46%) discovered here are novel. A total of 709 genes within or overlapping with the CNVR was retrieved. Out of the 2,742 quantitative trait loci (QTL) collected in the chicken QTL database, 43 QTL had confidence intervals overlapping with the CNVR, and 32 CNVR encompassed one or more functional genes. The functional genes located in the CNVR are likely to be the QTG that are associated with underlying economic traits. This study considerably expands our insight into the structural variation in the genome of chickens and provides an important resource for genomic variation, especially for genomic structural variation related to economic traits in chickens. © 2016 Poultry Science Association Inc.

  17. Use of mechanistic simulations as a quantitative risk-ranking tool within the quality by design framework.

    PubMed

    Stocker, Elena; Toschkoff, Gregor; Sacher, Stephan; Khinast, Johannes G

    2014-11-20

    The purpose of this study is to evaluate the use of computer simulations for generating quantitative knowledge as a basis for risk ranking and mechanistic process understanding, as required by ICH Q9 on quality risk management systems. In this specific publication, the main focus is the demonstration of a risk assessment workflow, including a computer simulation for the generation of mechanistic understanding of active tablet coating in a pan coater. Process parameter screening studies are statistically planned under consideration of impacts on a potentially critical quality attribute, i.e., coating mass uniformity. Based on computer simulation data the process failure mode and effects analysis of the risk factors is performed. This results in a quantitative criticality assessment of process parameters and the risk priority evaluation of failure modes. The factor for a quantitative reassessment of the criticality and risk priority is the coefficient of variation, which represents the coating mass uniformity. The major conclusion drawn from this work is a successful demonstration of the integration of computer simulation in the risk management workflow leading to an objective and quantitative risk assessment. Copyright © 2014. Published by Elsevier B.V.

  18. Multiple capacitors for natural genetic variation in Drosophila melanogaster.

    PubMed

    Takahashi, Kazuo H

    2013-03-01

    Cryptic genetic variation (CGV) or a standing genetic variation that is not ordinarily expressed as a phenotype is released when the robustness of organisms is impaired under environmental or genetic perturbations. Evolutionary capacitors modulate the amount of genetic variation exposed to natural selection and hidden cryptically; they have a fundamental effect on the evolvability of traits on evolutionary timescales. In this study, I have demonstrated the effects of multiple genomic regions of Drosophila melanogaster on CGV in wing shape. I examined the effects of 61 genomic deficiencies on quantitative and qualitative natural genetic variation in the wing shape of D. melanogaster. I have identified 10 genomic deficiencies that do not encompass a known candidate evolutionary capacitor, Hsp90, exposing natural CGV differently depending on the location of the deficiencies in the genome. Furthermore, five genomic deficiencies uncovered qualitative CGV in wing morphology. These findings suggest that CGV in wing shape of wild-type D. melanogaster is regulated by multiple capacitors with divergent functions. Future analysis of genes encompassed by these genomic regions would help elucidate novel capacitor genes and better understand the general features of capacitors regarding natural genetic variation. © 2012 Blackwell Publishing Ltd.

  19. Quantitative Evaluation of Electrodes for External Urethral Sphincter Electromyography during Bladder-to-Urethral Guarding Reflex

    PubMed Central

    Steward, James E.; Clemons, Jessica D.; Zaszczurynski, Paul J.; Butler, Robert S.; Damaser, Margot S.; Jiang, Hai-Hong

    2009-01-01

    Purpose Accuracy in the recording of external urethral sphincter (EUS) electromyography (EMG) is an important goal in the quantitative evaluation of urethral function. This study aim was to quantitatively compare electrode recordings taken during tonic activity and leak point pressure (LPP) testing. Methods Several electrodes, including the surface electrode (SE), concentric electrode (CE), and wire electrode (WE), were placed on the EUS singly and simultaneously in six female Sprague-Dawley rats under urethane anesthesia. The bladder was filled via a retropubic catheter while LPP testing and EUS EMG recording were done. Quantitative baseline correction of the EUS EMG signal was performed to reduce baseline variation. Amplitude and frequency of one-second samples of the EUS EMG signal were measured before LPP (tonic activity) and during peak LPP activity. Results The SE, CE, and WE signals demonstrated tonic activity before LPP and an increase in activity during LPP, suggesting that the electrodes accurately recorded EUS activity during tonic activity and during the bladder-to-EUS guarding reflex, regardless of the size or location of detection areas. SE recordings required significantly less baseline correction than both CE and WE recordings. The activity in CE-recorded EMG was significantly higher than that of the SE and WE both in single and simultaneous recordings. Conclusions These electrodes may be suitable for testing EUS EMG activity. The SE signal had significantly less baseline variation and the CE detected local activity more sensitively than the other electrodes, which may provide insight into choosing an appropriate electrode for EUS EMG recording. PMID:19680661

  20. Contrast-enhanced 3T MR Perfusion of Musculoskeletal Tumours: T1 Value Heterogeneity Assessment and Evaluation of the Influence of T1 Estimation Methods on Quantitative Parameters.

    PubMed

    Gondim Teixeira, Pedro Augusto; Leplat, Christophe; Chen, Bailiang; De Verbizier, Jacques; Beaumont, Marine; Badr, Sammy; Cotten, Anne; Blum, Alain

    2017-12-01

    To evaluate intra-tumour and striated muscle T1 value heterogeneity and the influence of different methods of T1 estimation on the variability of quantitative perfusion parameters. Eighty-two patients with a histologically confirmed musculoskeletal tumour were prospectively included in this study and, with ethics committee approval, underwent contrast-enhanced MR perfusion and T1 mapping. T1 value variations in viable tumour areas and in normal-appearing striated muscle were assessed. In 20 cases, normal muscle perfusion parameters were calculated using three different methods: signal based and gadolinium concentration based on fixed and variable T1 values. Tumour and normal muscle T1 values were significantly different (p = 0.0008). T1 value heterogeneity was higher in tumours than in normal muscle (variation of 19.8% versus 13%). The T1 estimation method had a considerable influence on the variability of perfusion parameters. Fixed T1 values yielded higher coefficients of variation than variable T1 values (mean 109.6 ± 41.8% and 58.3 ± 14.1% respectively). Area under the curve was the least variable parameter (36%). T1 values in musculoskeletal tumours are significantly different and more heterogeneous than normal muscle. Patient-specific T1 estimation is needed for direct inter-patient comparison of perfusion parameters. • T1 value variation in musculoskeletal tumours is considerable. • T1 values in muscle and tumours are significantly different. • Patient-specific T1 estimation is needed for comparison of inter-patient perfusion parameters. • Technical variation is higher in permeability than semiquantitative perfusion parameters.

  1. Quantitative trait loci that control the oil content variation of rapeseed (Brassica napus L.).

    PubMed

    Jiang, Congcong; Shi, Jiaqin; Li, Ruiyuan; Long, Yan; Wang, Hao; Li, Dianrong; Zhao, Jianyi; Meng, Jinling

    2014-04-01

    This report describes an integrative analysis of seed-oil-content quantitative trait loci (QTL) in Brassica napus , using a high-density genetic map to align QTL among different populations. Rapeseed (Brassica napus) is an important source of edible oil and sustainable energy. Given the challenge involved in using only a few genes to substantially increase the oil content of rapeseed without affecting the fatty acid composition, exploitation of a greater number of genetic loci that regulate the oil content variation among rapeseed germplasm is of fundamental importance. In this study, we investigated variation in the seed-oil content among two related genetic populations of Brassica napus, the TN double-haploid population and its derivative reconstructed-F2 population. Each population was grown in multiple experiments under different environmental conditions. Mapping of quantitative trait loci (QTL) identified 41 QTL in the TN populations. Furthermore, of the 20 pairs of epistatic interaction loci detected, approximately one-third were located within the QTL intervals. The use of common markers on different genetic maps and the TN genetic map as a reference enabled us to project QTL from an additional three genetic populations onto the TN genetic map. In summary, we used the TN genetic map of the B. napus genome to identify 46 distinct QTL regions that control seed-oil content on 16 of the 19 linkage groups of B. napus. Of these, 18 were each detected in multiple populations. The present results are of value for ongoing efforts to breed rapeseed with high oil content, and alignment of the QTL makes an important contribution to the development of an integrative system for genetic studies of rapeseed.

  2. Small- and Large-Effect Quantitative Trait Locus Interactions Underlie Variation in Yeast Sporulation Efficiency

    PubMed Central

    Lorenz, Kim; Cohen, Barak A.

    2012-01-01

    Quantitative trait loci (QTL) with small effects on phenotypic variation can be difficult to detect and analyze. Because of this a large fraction of the genetic architecture of many complex traits is not well understood. Here we use sporulation efficiency in Saccharomyces cerevisiae as a model complex trait to identify and study small-effect QTL. In crosses where the large-effect quantitative trait nucleotides (QTN) have been genetically fixed we identify small-effect QTL that explain approximately half of the remaining variation not explained by the major effects. We find that small-effect QTL are often physically linked to large-effect QTL and that there are extensive genetic interactions between small- and large-effect QTL. A more complete understanding of quantitative traits will require a better understanding of the numbers, effect sizes, and genetic interactions of small-effect QTL. PMID:22942125

  3. Development and Validation of a Statistical Shape Modeling-Based Finite Element Model of the Cervical Spine Under Low-Level Multiple Direction Loading Conditions

    PubMed Central

    Bredbenner, Todd L.; Eliason, Travis D.; Francis, W. Loren; McFarland, John M.; Merkle, Andrew C.; Nicolella, Daniel P.

    2014-01-01

    Cervical spinal injuries are a significant concern in all trauma injuries. Recent military conflicts have demonstrated the substantial risk of spinal injury for the modern warfighter. Finite element models used to investigate injury mechanisms often fail to examine the effects of variation in geometry or material properties on mechanical behavior. The goals of this study were to model geometric variation for a set of cervical spines, to extend this model to a parametric finite element model, and, as a first step, to validate the parametric model against experimental data for low-loading conditions. Individual finite element models were created using cervical spine (C3–T1) computed tomography data for five male cadavers. Statistical shape modeling (SSM) was used to generate a parametric finite element model incorporating variability of spine geometry, and soft-tissue material property variation was also included. The probabilistic loading response of the parametric model was determined under flexion-extension, axial rotation, and lateral bending and validated by comparison to experimental data. Based on qualitative and quantitative comparison of the experimental loading response and model simulations, we suggest that the model performs adequately under relatively low-level loading conditions in multiple loading directions. In conclusion, SSM methods coupled with finite element analyses within a probabilistic framework, along with the ability to statistically validate the overall model performance, provide innovative and important steps toward describing the differences in vertebral morphology, spinal curvature, and variation in material properties. We suggest that these methods, with additional investigation and validation under injurious loading conditions, will lead to understanding and mitigating the risks of injury in the spine and other musculoskeletal structures. PMID:25506051

  4. Quantitative genetic bases of anthocyanin variation in grape (Vitis vinifera L. ssp. sativa) berry: a quantitative trait locus to quantitative trait nucleotide integrated study.

    PubMed

    Fournier-Level, Alexandre; Le Cunff, Loïc; Gomez, Camila; Doligez, Agnès; Ageorges, Agnès; Roux, Catherine; Bertrand, Yves; Souquet, Jean-Marc; Cheynier, Véronique; This, Patrice

    2009-11-01

    The combination of QTL mapping studies of synthetic lines and association mapping studies of natural diversity represents an opportunity to throw light on the genetically based variation of quantitative traits. With the positional information provided through quantitative trait locus (QTL) mapping, which often leads to wide intervals encompassing numerous genes, it is now feasible to directly target candidate genes that are likely to be responsible for the observed variation in completely sequenced genomes and to test their effects through association genetics. This approach was performed in grape, a newly sequenced genome, to decipher the genetic architecture of anthocyanin content. Grapes may be either white or colored, ranging from the lightest pink to the darkest purple tones according to the amount of anthocyanin accumulated in the berry skin, which is a crucial trait for both wine quality and human nutrition. Although the determinism of the white phenotype has been fully identified, the genetic bases of the quantitative variation of anthocyanin content in berry skin remain unclear. A single QTL responsible for up to 62% of the variation in the anthocyanin content was mapped on a Syrah x Grenache F(1) pseudo-testcross. Among the 68 unigenes identified in the grape genome within the QTL interval, a cluster of four Myb-type genes was selected on the basis of physiological evidence (VvMybA1, VvMybA2, VvMybA3, and VvMybA4). From a core collection of natural resources (141 individuals), 32 polymorphisms revealed significant association, and extended linkage disequilibrium was observed. Using a multivariate regression method, we demonstrated that five polymorphisms in VvMybA genes except VvMybA4 (one retrotransposon, three single nucleotide polymorphisms and one 2-bp insertion/deletion) accounted for 84% of the observed variation. All these polymorphisms led to either structural changes in the MYB proteins or differences in the VvMybAs promoters. We concluded that the continuous variation in anthocyanin content in grape was explained mainly by a single gene cluster of three VvMybA genes. The use of natural diversity helped to reduce one QTL to a set of five quantitative trait nucleotides and gave a clear picture of how isogenes combined their effects to shape grape color. Such analysis also illustrates how isogenes combine their effect to shape a complex quantitative trait and enables the definition of markers directly targeted for upcoming breeding programs.

  5. The rate-size trade-off structures intraspecific variation in Daphnia ambigua life history parameters.

    PubMed

    DeLong, John P; Hanley, Torrance C

    2013-01-01

    The identification of trade-offs is necessary for understanding the evolution and maintenance of diversity. Here we employ the supply-demand (SD) body size optimization model to predict a trade-off between asymptotic body size and growth rate. We use the SD model to quantitatively predict the slope of the relationship between asymptotic body size and growth rate under high and low food regimes and then test the predictions against observations for Daphnia ambigua. Close quantitative agreement between observed and predicted slopes at both food levels lends support to the model and confirms that a 'rate-size' trade-off structures life history variation in this population. In contrast to classic life history expectations, growth and reproduction were positively correlated after controlling for the rate-size trade-off. We included 12 Daphnia clones in our study, but clone identity explained only some of the variation in life history traits. We also tested the hypothesis that growth rate would be positively related to intergenic spacer length (i.e. the growth rate hypothesis) across clones, but we found that clones with intermediate intergenic spacer lengths had larger asymptotic sizes and slower growth rates. Our results strongly support a resource-based optimization of body size following the SD model. Furthermore, because some resource allocation decisions necessarily precede others, understanding interdependent life history traits may require a more nested approach.

  6. Quantitative physiologically based modeling of subjective fatigue during sleep deprivation.

    PubMed

    Fulcher, B D; Phillips, A J K; Robinson, P A

    2010-05-21

    A quantitative physiologically based model of the sleep-wake switch is used to predict variations in subjective fatigue-related measures during total sleep deprivation. The model includes the mutual inhibition of the sleep-active neurons in the hypothalamic ventrolateral preoptic area (VLPO) and the wake-active monoaminergic brainstem populations (MA), as well as circadian and homeostatic drives. We simulate sleep deprivation by introducing a drive to the MA, which we call wake effort, to maintain the system in a wakeful state. Physiologically this drive is proposed to be afferent from the cortex or the orexin group of the lateral hypothalamus. It is hypothesized that the need to exert this effort to maintain wakefulness at high homeostatic sleep pressure correlates with subjective fatigue levels. The model's output indeed exhibits good agreement with existing clinical time series of subjective fatigue-related measures, supporting this hypothesis. Subjective fatigue, adrenaline, and body temperature variations during two 72h sleep deprivation protocols are reproduced by the model. By distinguishing a motivation-dependent orexinergic contribution to the wake-effort drive, the model can be extended to interpret variation in performance levels during sleep deprivation in a way that is qualitatively consistent with existing, clinically derived results. The example of sleep deprivation thus demonstrates the ability of physiologically based sleep modeling to predict psychological measures from the underlying physiological interactions that produce them. Copyright (c) 2010 Elsevier Ltd. All rights reserved.

  7. Time-series analysis of hepatitis A, B, C and E infections in a large Chinese city: application to prediction analysis.

    PubMed

    Sumi, A; Luo, T; Zhou, D; Yu, B; Kong, D; Kobayashi, N

    2013-05-01

    Viral hepatitis is recognized as one of the most frequently reported diseases, and especially in China, acute and chronic liver disease due to viral hepatitis has been a major public health problem. The present study aimed to analyse and predict surveillance data of infections of hepatitis A, B, C and E in Wuhan, China, by the method of time-series analysis (MemCalc, Suwa-Trast, Japan). On the basis of spectral analysis, fundamental modes explaining the underlying variation of the data for the years 2004-2008 were assigned. The model was calculated using the fundamental modes and the underlying variation of the data reproduced well. An extension of the model to the year 2009 could predict the data quantitatively. Our study suggests that the present method will allow us to model the temporal pattern of epidemics of viral hepatitis much more effectively than using the artificial neural network, which has been used previously.

  8. Genetic studies at the receptor level: investigations in human twins and experimental animals.

    PubMed

    Propping, P; Friedl, W; Hebebrand, J; Lentes, K U

    1986-01-01

    In receptors, as in enzymes, quantitative as well as qualitative genetic variation may exist. Studies in inbred strains of mice have shown for various receptors that the receptor density as determined by Bmax values is under genetic control. In healthy adult twins we have shown that the density of alpha-adrenoceptors on platelets is also influenced by genetic factors, since monozygotic twins were much more similar to one another than dizygotic twins. However, Bmax values are up-regulated and down-regulated by endogenous neurotransmitters and pharmacologically active agents. Thus, receptor densities are under considerable regulatory influences. Bmax values therefore reflect regulatory mechanisms rather than innate characteristics of the receptor protein. In another twin study we failed to find evidence for a genetic influence on the density of imipramine-binding sites on platelets. Since qualitative variation (polymorphism) is well known in enzymes, it may also apply to receptors. Qualitative differences in the receptor protein within one species would be of particular interest because of possible functional implications. As a first approach we examined central benzodiazepine receptors by photoaffinity labelling and sodium dodecyl sulphate-polyacrylamide gel electrophoresis. A comparison of fish, frog, chicken, mouse, rat and calf led to the detection of variation between species. Investigations in five inbred mouse and rat strains have not so far revealed genetic variation in benzodiazepine receptors. Nevertheless variation may be detectable by more sensitive methods such as peptide mapping after limited proteolysis or two-dimensional electrophoresis.

  9. Quantitative and simultaneous non-invasive measurement of skin hydration and sebum levels

    PubMed Central

    Ezerskaia, Anna; Pereira, S. F.; Urbach, H. Paul; Verhagen, Rieko; Varghese, Babu

    2016-01-01

    We report a method on quantitative and simultaneous non-contact in-vivo hydration and sebum measurements of the skin using an infrared optical spectroscopic set-up. The method utilizes differential detection with three wavelengths 1720, 1750, and 1770 nm, corresponding to the lipid vibrational bands that lay “in between” the prominent water absorption bands. We have used an emulsifier containing hydro- and lipophilic components to mix water and sebum in various volume fractions which was applied to the skin to mimic different oily-dry skin conditions. We also measured the skin sebum and hydration values on the forehead under natural conditions and its variations to external stimuli. Good agreement was found between our experimental results and reference values measured using conventional biophysical methods such as Corneometer and Sebumeter. PMID:27375946

  10. The Quantitative Nature of Autistic Social Impairment

    PubMed Central

    Constantino, John N.

    2011-01-01

    Autism, like intellectual disability, represents the severe end of a continuous distribution of developmental impairments that occur in nature, that are highly inherited, and that are orthogonally related to other parameters of development. A paradigm shift in understanding the core social abnormality of autism as a quantitative trait rather than as a categorically-defined condition has key implications for diagnostic classification, the measurement of change over time, the search for underlying genetic and neurobiologic mechanisms, and public health efforts to identify and support affected children. Here a recent body of research in genetics and epidemiology is presented to examine a dimensional reconceptualization of autistic social impairment—as manifested in clinical autistic syndromes, the broader autism phenotype, and normal variation in the general population. It illustrates how traditional categorical approaches to diagnosis may lead to misclassification of subjects (especially girls and mildly affected boys in multiple-incidence autism families), which can be particularly damaging to biological studies, and proposes continued efforts to derive a standardized quantitative system by which to characterize this family of conditions. PMID:21289537

  11. A gene encoding maize caffeoyl-CoA O-methyltransferase confers quantitative resistance to multiple pathogens.

    PubMed

    Yang, Qin; He, Yijian; Kabahuma, Mercy; Chaya, Timothy; Kelly, Amy; Borrego, Eli; Bian, Yang; El Kasmi, Farid; Yang, Li; Teixeira, Paulo; Kolkman, Judith; Nelson, Rebecca; Kolomiets, Michael; L Dangl, Jeffery; Wisser, Randall; Caplan, Jeffrey; Li, Xu; Lauter, Nick; Balint-Kurti, Peter

    2017-09-01

    Alleles that confer multiple disease resistance (MDR) are valuable in crop improvement, although the molecular mechanisms underlying their functions remain largely unknown. A quantitative trait locus, qMdr 9.02 , associated with resistance to three important foliar maize diseases-southern leaf blight, gray leaf spot and northern leaf blight-has been identified on maize chromosome 9. Through fine-mapping, association analysis, expression analysis, insertional mutagenesis and transgenic validation, we demonstrate that ZmCCoAOMT2, which encodes a caffeoyl-CoA O-methyltransferase associated with the phenylpropanoid pathway and lignin production, is the gene within qMdr 9.02 conferring quantitative resistance to both southern leaf blight and gray leaf spot. We suggest that resistance might be caused by allelic variation at the level of both gene expression and amino acid sequence, thus resulting in differences in levels of lignin and other metabolites of the phenylpropanoid pathway and regulation of programmed cell death.

  12. Untargeted Metabolic Quantitative Trait Loci Analyses Reveal a Relationship between Primary Metabolism and Potato Tuber Quality1[W][OA

    PubMed Central

    Carreno-Quintero, Natalia; Acharjee, Animesh; Maliepaard, Chris; Bachem, Christian W.B.; Mumm, Roland; Bouwmeester, Harro; Visser, Richard G.F.; Keurentjes, Joost J.B.

    2012-01-01

    Recent advances in -omics technologies such as transcriptomics, metabolomics, and proteomics along with genotypic profiling have permitted dissection of the genetics of complex traits represented by molecular phenotypes in nonmodel species. To identify the genetic factors underlying variation in primary metabolism in potato (Solanum tuberosum), we have profiled primary metabolite content in a diploid potato mapping population, derived from crosses between S. tuberosum and wild relatives, using gas chromatography-time of flight-mass spectrometry. In total, 139 polar metabolites were detected, of which we identified metabolite quantitative trait loci for approximately 72% of the detected compounds. In order to obtain an insight into the relationships between metabolic traits and classical phenotypic traits, we also analyzed statistical associations between them. The combined analysis of genetic information through quantitative trait locus coincidence and the application of statistical learning methods provide information on putative indicators associated with the alterations in metabolic networks that affect complex phenotypic traits. PMID:22223596

  13. The integration of quantitative genetics, paleontology, and neontology reveals genetic underpinnings of primate dental evolution.

    PubMed

    Hlusko, Leslea J; Schmitt, Christopher A; Monson, Tesla A; Brasil, Marianne F; Mahaney, Michael C

    2016-08-16

    Developmental genetics research on mice provides a relatively sound understanding of the genes necessary and sufficient to make mammalian teeth. However, mouse dentitions are highly derived compared with human dentitions, complicating the application of these insights to human biology. We used quantitative genetic analyses of data from living nonhuman primates and extensive osteological and paleontological collections to refine our assessment of dental phenotypes so that they better represent how the underlying genetic mechanisms actually influence anatomical variation. We identify ratios that better characterize the output of two dental genetic patterning mechanisms for primate dentitions. These two newly defined phenotypes are heritable with no measurable pleiotropic effects. When we consider how these two phenotypes vary across neontological and paleontological datasets, we find that the major Middle Miocene taxonomic shift in primate diversity is characterized by a shift in these two genetic outputs. Our results build on the mouse model by combining quantitative genetics and paleontology, and thereby elucidate how genetic mechanisms likely underlie major events in primate evolution.

  14. Experiments on waves under impulsive wind forcing in view of the Phillips (1957) theory

    NASA Astrophysics Data System (ADS)

    Shemer, Lev; Zavadsky, Andrey

    2016-11-01

    Only limited information is currently available on the initial stages of wind-waves growth from rest under sudden wind forcing; the mechanisms leading to the appearance of waves are still not well understood. In the present work, waves emerging in a small-scale laboratory facility under the action of step-like turbulent wind forcing are studied using capacitance and laser slope gauges. Measurements are performed at a number of fetches and for a range of wind velocities. Taking advantage of the fully automated experimental procedure, at least 100 independent realizations are recorded for each wind velocity at every fetch. The accumulated data sets allow calculating ensemble-averaged values of the measured parameters as a function of time elapsed from the blower activation. The accumulated results on the temporal variation of wind-wave field initially at rest allow quantitative comparison with the theory of Phillips (1957). Following Phillips, appearance of the initial detectable ripples was considered first, while the growth of short gravity waves at later times was analyzed separately. Good qualitative and partial quantitative agreement between the Phillips predictions and the measurements was obtained for both those stages of the initial wind-wave field evolution.

  15. Exploiting induced variation to dissect quantitative traits in barley.

    PubMed

    Druka, Arnis; Franckowiak, Jerome; Lundqvist, Udda; Bonar, Nicola; Alexander, Jill; Guzy-Wrobelska, Justyna; Ramsay, Luke; Druka, Ilze; Grant, Iain; Macaulay, Malcolm; Vendramin, Vera; Shahinnia, Fahimeh; Radovic, Slobodanka; Houston, Kelly; Harrap, David; Cardle, Linda; Marshall, David; Morgante, Michele; Stein, Nils; Waugh, Robbie

    2010-04-01

    The identification of genes underlying complex quantitative traits such as grain yield by means of conventional genetic analysis (positional cloning) requires the development of several large mapping populations. However, it is possible that phenotypically related, but more extreme, allelic variants generated by mutational studies could provide a means for more efficient cloning of QTLs (quantitative trait loci). In barley (Hordeum vulgare), with the development of high-throughput genome analysis tools, efficient genome-wide identification of genetic loci harbouring mutant alleles has recently become possible. Genotypic data from NILs (near-isogenic lines) that carry induced or natural variants of genes that control aspects of plant development can be compared with the location of QTLs to potentially identify candidate genes for development--related traits such as grain yield. As yield itself can be divided into a number of allometric component traits such as tillers per plant, kernels per spike and kernel size, mutant alleles that both affect these traits and are located within the confidence intervals for major yield QTLs may represent extreme variants of the underlying genes. In addition, the development of detailed comparative genomic models based on the alignment of a high-density barley gene map with the rice and sorghum physical maps, has enabled an informed prioritization of 'known function' genes as candidates for both QTLs and induced mutant genes.

  16. Allelic variations and differential expressions detected at quantitative trait loci for salt stress tolerance in wheat.

    PubMed

    Oyiga, Benedict C; Sharma, Ram C; Baum, Michael; Ogbonnaya, Francis C; Léon, Jens; Ballvora, Agim

    2018-05-01

    The increasing salinization of agricultural lands is a threat to global wheat production. Understanding of the mechanistic basis of salt tolerance (ST) is essential for developing breeding and selection strategies that would allow for increased wheat production under saline conditions to meet the increasing global demand. We used a set that consists of 150 internationally derived winter and facultative wheat cultivars genotyped with a 90K SNP chip and phenotyped for ST across three growth stages and for ionic (leaf K + and Na +  contents) traits to dissect the genetic architecture regulating ST in wheat. Genome-wide association mapping revealed 187 Single Nucleotide Polymorphism (SNPs) (R 2  = 3.00-30.67%), representing 37 quantitative trait loci (QTL), significantly associated with the ST traits. Of these, four QTL on 1BS, 2AL, 2BS and 3AL were associated with ST across the three growth stages and with the ionic traits. Novel QTL were also detected on 1BS and 1DL. Candidate genes linked to these polymorphisms were uncovered, and expression analyses were performed and validated on them under saline and non-saline conditions using transcriptomics and qRT-PCR data. Expressed sequence comparisons in contrasting ST wheat genotypes identified several non-synonymous/missense mutation sites that are contributory to the ST trait variations, indicating the biological relevance of these polymorphisms that can be exploited in breeding for ST in wheat. © 2017 The Authors. Plant, Cell & Environment published by JohnWiley & Sons Ltd.

  17. Identification of Candidate Genes Underlying an Iron Efficiency Quantitative Trait Locus in Soybean1

    PubMed Central

    Peiffer, Gregory A.; King, Keith E.; Severin, Andrew J.; May, Gregory D.; Cianzio, Silvia R.; Lin, Shun Fu; Lauter, Nicholas C.; Shoemaker, Randy C.

    2012-01-01

    Prevalent on calcareous soils in the United States and abroad, iron deficiency is among the most common and severe nutritional stresses in plants. In soybean (Glycine max) commercial plantings, the identification and use of iron-efficient genotypes has proven to be the best form of managing this soil-related plant stress. Previous studies conducted in soybean identified a significant iron efficiency quantitative trait locus (QTL) explaining more than 70% of the phenotypic variation for the trait. In this research, we identified candidate genes underlying this QTL through molecular breeding, mapping, and transcriptome sequencing. Introgression mapping was performed using two related near-isogenic lines in which a region located on soybean chromosome 3 required for iron efficiency was identified. The region corresponds to the previously reported iron efficiency QTL. The location was further confirmed through QTL mapping conducted in this study. Transcriptome sequencing and quantitative real-time-polymerase chain reaction identified two genes encoding transcription factors within the region that were significantly induced in soybean roots under iron stress. The two induced transcription factors were identified as homologs of the subgroup lb basic helix-loop-helix (bHLH) genes that are known to regulate the strategy I response in Arabidopsis (Arabidopsis thaliana). Resequencing of these differentially expressed genes unveiled a significant deletion within a predicted dimerization domain. We hypothesize that this deletion disrupts the Fe-DEFICIENCY-INDUCED TRANSCRIPTION FACTOR (FIT)/bHLH heterodimer that has been shown to induce known iron acquisition genes. PMID:22319075

  18. The contribution of simple random sampling to observed variations in faecal egg counts.

    PubMed

    Torgerson, Paul R; Paul, Michaela; Lewis, Fraser I

    2012-09-10

    It has been over 100 years since the classical paper published by Gosset in 1907, under the pseudonym "Student", demonstrated that yeast cells suspended in a fluid and measured by a haemocytometer conformed to a Poisson process. Similarly parasite eggs in a faecal suspension also conform to a Poisson process. Despite this there are common misconceptions how to analyse or interpret observations from the McMaster or similar quantitative parasitic diagnostic techniques, widely used for evaluating parasite eggs in faeces. The McMaster technique can easily be shown from a theoretical perspective to give variable results that inevitably arise from the random distribution of parasite eggs in a well mixed faecal sample. The Poisson processes that lead to this variability are described and illustrative examples of the potentially large confidence intervals that can arise from observed faecal eggs counts that are calculated from the observations on a McMaster slide. Attempts to modify the McMaster technique, or indeed other quantitative techniques, to ensure uniform egg counts are doomed to failure and belie ignorance of Poisson processes. A simple method to immediately identify excess variation/poor sampling from replicate counts is provided. Copyright © 2012 Elsevier B.V. All rights reserved.

  19. The effects of stabilizing and directional selection on phenotypic and genotypic variation in a population of RNA enzymes.

    PubMed

    Hayden, Eric J; Bratulic, Sinisa; Koenig, Iwo; Ferrada, Evandro; Wagner, Andreas

    2014-02-01

    The distribution of variation in a quantitative trait and its underlying distribution of genotypic diversity can both be shaped by stabilizing and directional selection. Understanding either distribution is important, because it determines a population's response to natural selection. Unfortunately, existing theory makes conflicting predictions about how selection shapes these distributions, and very little pertinent experimental evidence exists. Here we study a simple genetic system, an evolving RNA enzyme (ribozyme) in which a combination of high throughput genotyping and measurement of a biochemical phenotype allow us to address this question. We show that directional selection, compared to stabilizing selection, increases the genotypic diversity of an evolving ribozyme population. In contrast, it leaves the variance in the phenotypic trait unchanged.

  20. Ocean dynamics in the Nordic Seas using satellite altimetry

    NASA Technical Reports Server (NTRS)

    Pettersson, Lasse H.; Johannessen, O. M.; Olaussen, T. I.

    1991-01-01

    The main objective of this TOPEX/POSEIDON project is to integrate the accurately measured sea surface topography, as resolved by both TOPEX/POSEIDON radar altimeters, into the above-mentioned quantitative studies of the short- and long-term variations in the mesoscale ocean dynamics of the Nordic Seas south of 66 deg N. This implies: (1) comparison and validation of the capability to resolve the general basin-scale circulation and the mesoscale variability by, respectively, radar altimeters and numerical ocean circulation models; (2) calibration and validation of the altimeter-derived sea surface topography against in situ measurements from research vessels and moorings, particularly under extreme wind and wave conditions; and (3) improved monitoring and understanding of the flux variations between the North Atlantic and the Nordic Seas, both on the short and seasonal time scales.

  1. Genetic variation facilitates seedling establishment but not population growth rate of a perennial invader.

    PubMed

    Li, Shou-Li; Vasemägi, Anti; Ramula, Satu

    2016-01-01

    Assessing the demographic consequences of genetic variation is fundamental to invasion biology. However, genetic and demographic approaches are rarely combined to explore the effects of genetic variation on invasive populations in natural environments. This study combined population genetics, demographic data and a greenhouse experiment to investigate the consequences of genetic variation for the population fitness of the perennial, invasive herb Lupinus polyphyllus. Genetic and demographic data were collected from 37 L. polyphyllus populations representing different latitudes in Finland, and genetic variation was characterized based on 13 microsatellite loci. Associations between genetic variation and population size, population density, latitude and habitat were investigated. Genetic variation was then explored in relation to four fitness components (establishment, survival, growth, fecundity) measured at the population level, and the long-term population growth rate (λ). For a subset of populations genetic variation was also examined in relation to the temporal variability of λ. A further assessment was made of the role of natural selection in the observed variation of certain fitness components among populations under greenhouse conditions. It was found that genetic variation correlated positively with population size, particularly at higher latitudes, and differed among habitat types. Average seedling establishment per population increased with genetic variation in the field, but not under greenhouse conditions. Quantitative genetic divergence (Q(ST)) based on seedling establishment in the greenhouse was smaller than allelic genetic divergence (F'(ST)), indicating that unifying selection has a prominent role in this fitness component. Genetic variation was not associated with average survival, growth or fecundity measured at the population level, λ or its variability. The study suggests that although genetic variation may facilitate plant invasions by increasing seedling establishment, it may not necessarily affect the long-term population growth rate. Therefore, established invasions may be able to grow equally well regardless of their genetic diversity. © The Author 2015. Published by Oxford University Press on behalf of the Annals of Botany Company. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  2. 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

  3. 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.

  4. Is variation in susceptibility to Phytophthora ramorum correlated with population genetic structure in coast live oak (Quercus agrifolia)?

    PubMed

    Dodd, Richard S; Hüberli, Daniel; Douhovnikoff, Vlad; Harnik, Tamar Y; Afzal-Rafii, Zara; Garbelotto, Matteo

    2005-01-01

    California coastal woodlands are suffering severe disease and mortality as a result of infection from Phytophthora ramorum. Quercus agrifolia is one of the major woodland species at risk. This study investigated within- and among-population variation in host susceptibility to inoculation with P. ramorum and compared this with population genetic structure using molecular markers. Susceptibility was assessed using a branch-cutting inoculation test. Trees were selected from seven natural populations in California. Amplified fragment length polymorphism molecular markers were analysed for all trees used in the trials. Lesion sizes varied quantitatively among individuals within populations, with up to an eightfold difference. There was little support for population differences in susceptibility. Molecular structure also showed a strong within-population, and weaker among-population, pattern of variation. Our data suggest that susceptibility of Q. agrifolia to P. ramorum is variable and is under the control of several gene loci. This variation exists within populations, so that less susceptible local genotypes may provide the gene pool for regeneration of woodlands where mortality is high.

  5. EvolQG - An R package for evolutionary quantitative genetics

    PubMed Central

    Melo, Diogo; Garcia, Guilherme; Hubbe, Alex; Assis, Ana Paula; Marroig, Gabriel

    2016-01-01

    We present an open source package for performing evolutionary quantitative genetics analyses in the R environment for statistical computing. Evolutionary theory shows that evolution depends critically on the available variation in a given population. When dealing with many quantitative traits this variation is expressed in the form of a covariance matrix, particularly the additive genetic covariance matrix or sometimes the phenotypic matrix, when the genetic matrix is unavailable and there is evidence the phenotypic matrix is sufficiently similar to the genetic matrix. Given this mathematical representation of available variation, the \\textbf{EvolQG} package provides functions for calculation of relevant evolutionary statistics; estimation of sampling error; corrections for this error; matrix comparison via correlations, distances and matrix decomposition; analysis of modularity patterns; and functions for testing evolutionary hypotheses on taxa diversification. PMID:27785352

  6. Investigation of Carbon Fiber Architecture in Braided Composites Using X-Ray CT Inspection

    NASA Technical Reports Server (NTRS)

    Rhoads, Daniel J.; Miller, Sandi G.; Roberts, Gary D.; Rauser, Richard W.; Golovaty, Dmitry; Wilber, J. Patrick; Espanol, Malena I.

    2017-01-01

    During the fabrication of braided carbon fiber composite materials, process variations occur which affect the fiber architecture. Quantitative measurements of local and global fiber architecture variations are needed to determine the potential effect of process variations on mechanical properties of the cured composite. Although non-destructive inspection via X-ray CT imaging is a promising approach, difficulties in quantitative analysis of the data arise due to the similar densities of the material constituents. In an effort to gain more quantitative information about features related to fiber architecture, methods have been explored to improve the details that can be captured by X-ray CT imaging. Metal-coated fibers and thin veils are used as inserts to extract detailed information about fiber orientations and inter-ply behavior from X-ray CT images.

  7. Practice variation amongst preventive child healthcare professionals in the prevention of child maltreatment in the Netherlands: Qualitative and quantitative data.

    PubMed

    Visscher, Simeon J A; van Stel, Henk F

    2017-12-01

    This article provides both qualitative and quantitative data on practice variation amongst preventive child healthcare professionals in the prevention of child maltreatment in the Netherlands. Qualitative data consist of topics identified during interviews with 11 experts (with quotes), resulting in an online survey. The quantitative data are survey responses from 1104 doctors and nurses working in 29 preventive child healthcare organizations. Additionally, the interview topic list, the qualitative data analysis methodology, the survey (in English and Dutch) and anonymized raw survey data (http://hdl.handle.net/10411/5LJOGH) are provided as well. This data-in-brief article accompanies the paper "Variation in prevention of child maltreatment by Dutch child healthcare professionals" by Simeon Visscher and Henk van Stel [1].

  8. Multienvironment Quantitative Trait Loci Analysis for Photosynthate Acquisition, Accumulation, and Remobilization Traits in Common Bean Under Drought Stress

    PubMed Central

    Asfaw, Asrat; Blair, Matthew W.; Struik, Paul C.

    2012-01-01

    Many of the world’s common bean (Phaseolus vulgaris L.) growing regions are prone to either intermittent or terminal drought stress, making drought the primary cause of yield loss under farmers’ field conditions. Improved photosynthate acquisition, accumulation, and then remobilization have been observed as important mechanisms for adaptation to drought stress. The objective of this study was to tag quantitative trait loci (QTL) for photosynthate acquisition, accumulation, and remobilization to grain by using a recombinant inbred line population developed from the Mesoamerican intragenepool cross of drought-susceptible DOR364 and drought-tolerant BAT477 grown under eight environments differing in drought stress across two continents: Africa and South America. The recombinant inbred line population expressed quantitative variation and transgressive segregation for 11 traits associated with drought tolerance. QTL were detected by both a mixed multienvironment model and by composite interval mapping for each environment using a linkage map constructed with 165 genetic markers that covered 11 linkage groups of the common bean genome. In the multienvironment, mixed model, nine QTL were detected for 10 drought stress tolerance mechanism traits found on six of the 11 linkage groups. Significant QTL × environment interaction was observed for six of the nine QTL. QTL × environment interaction was of the cross-over type for three of the six significant QTL with contrasting effect of the parental alleles across different environments. In the composite interval mapping, we found 69 QTL in total. The majority of these were found for Palmira (47) or Awassa (18), with fewer in Malawi (4). Phenotypic variation explained by QTL in single environments ranged up to 37%, and the most consistent QTL were for Soil Plant Analysis Development (SPAD) leaf chlorophyll reading and pod partitioning traits. QTL alignment between the two detection methods showed that yield QTL on b08 and stem carbohydrate QTL on b05 were most consistent between the multilocation model and the single environment detection. Our results indicate the relevance of QTL detection in the sites in which bean breeding will be undertaken and the importance of photosynthate accumulation as a trait for common bean drought tolerance. PMID:22670228

  9. Multienvironment quantitative trait Loci analysis for photosynthate acquisition, accumulation, and remobilization traits in common bean under drought stress.

    PubMed

    Asfaw, Asrat; Blair, Matthew W; Struik, Paul C

    2012-05-01

    Many of the world's common bean (Phaseolus vulgaris L.) growing regions are prone to either intermittent or terminal drought stress, making drought the primary cause of yield loss under farmers' field conditions. Improved photosynthate acquisition, accumulation, and then remobilization have been observed as important mechanisms for adaptation to drought stress. The objective of this study was to tag quantitative trait loci (QTL) for photosynthate acquisition, accumulation, and remobilization to grain by using a recombinant inbred line population developed from the Mesoamerican intragenepool cross of drought-susceptible DOR364 and drought-tolerant BAT477 grown under eight environments differing in drought stress across two continents: Africa and South America. The recombinant inbred line population expressed quantitative variation and transgressive segregation for 11 traits associated with drought tolerance. QTL were detected by both a mixed multienvironment model and by composite interval mapping for each environment using a linkage map constructed with 165 genetic markers that covered 11 linkage groups of the common bean genome. In the multienvironment, mixed model, nine QTL were detected for 10 drought stress tolerance mechanism traits found on six of the 11 linkage groups. Significant QTL × environment interaction was observed for six of the nine QTL. QTL × environment interaction was of the cross-over type for three of the six significant QTL with contrasting effect of the parental alleles across different environments. In the composite interval mapping, we found 69 QTL in total. The majority of these were found for Palmira (47) or Awassa (18), with fewer in Malawi (4). Phenotypic variation explained by QTL in single environments ranged up to 37%, and the most consistent QTL were for Soil Plant Analysis Development (SPAD) leaf chlorophyll reading and pod partitioning traits. QTL alignment between the two detection methods showed that yield QTL on b08 and stem carbohydrate QTL on b05 were most consistent between the multilocation model and the single environment detection. Our results indicate the relevance of QTL detection in the sites in which bean breeding will be undertaken and the importance of photosynthate accumulation as a trait for common bean drought tolerance.

  10. Towards quantitative assessment of calciphylaxis

    NASA Astrophysics Data System (ADS)

    Deserno, Thomas M.; Sárándi, István.; Jose, Abin; Haak, Daniel; Jonas, Stephan; Specht, Paula; Brandenburg, Vincent

    2014-03-01

    Calciphylaxis is a rare disease that has devastating conditions associated with high morbidity and mortality. Calciphylaxis is characterized by systemic medial calcification of the arteries yielding necrotic skin ulcerations. In this paper, we aim at supporting the installation of multi-center registries for calciphylaxis, which includes a photographic documentation of skin necrosis. However, photographs acquired in different centers under different conditions using different equipment and photographers cannot be compared quantitatively. For normalization, we use a simple color pad that is placed into the field of view, segmented from the image, and its color fields are analyzed. In total, 24 colors are printed on that scale. A least-squares approach is used to determine the affine color transform. Furthermore, the card allows scale normalization. We provide a case study for qualitative assessment. In addition, the method is evaluated quantitatively using 10 images of two sets of different captures of the same necrosis. The variability of quantitative measurements based on free hand photography is assessed regarding geometric and color distortions before and after our simple calibration procedure. Using automated image processing, the standard deviation of measurements is significantly reduced. The coefficients of variations yield 5-20% and 2-10% for geometry and color, respectively. Hence, quantitative assessment of calciphylaxis becomes practicable and will impact a better understanding of this rare but fatal disease.

  11. Population structure and strong divergent selection shape phenotypic diversification in maize landraces.

    PubMed

    Pressoir, G; Berthaud, J

    2004-02-01

    To conserve the long-term selection potential of maize, it is necessary to investigate past and present evolutionary processes that have shaped quantitative trait variation. Understanding the dynamics of quantitative trait evolution is crucial to future crop breeding. We characterized population differentiation of maize landraces from the State of Oaxaca, Mexico for quantitative traits and molecular markers. Qst values were much higher than Fst values obtained for molecular markers. While low values of Fst (0.011 within-village and 0.003 among-villages) suggest that considerable gene flow occurred among the studied populations, high levels of population differentiation for quantitative traits were observed (ie an among-village Qst value of 0.535 for kernel weight). Our results suggest that although quantitative traits appear to be under strong divergent selection, a considerable amount of gene flow occurs among populations. Furthermore, we characterized nonproportional changes in the G matrix structure both within and among villages that are consequences of farmer selection. As a consequence of these differences in the G matrix structure, the response to multivariate selection will be different from one population to another. Large changes in the G matrix structure could indicate that farmers select for genes of major and pleiotropic effect. Farmers' decision and selection strategies have a great impact on phenotypic diversification in maize landraces.

  12. Effect of psychological tension on pedestrian counter flow via an extended cost potential field cellular automaton model

    NASA Astrophysics Data System (ADS)

    Li, Xingli; Guo, Fang; Kuang, Hua; Zhou, Huaguo

    2017-12-01

    Psychology tells us that the different level of tension may lead to different behavior variation for individuals. In this paper, an extended cost potential field cellular automaton is proposed to simulate pedestrian counter flow under an emergency by considering behavior variation of pedestrian induced by psychological tension. A quantitative formula is introduced to describe behavioral changes caused by psychological tension, which also leads to the increasing cost of discomfort. The numerical simulations are performed under the periodic boundary condition and show that the presented model can capture some essential features of pedestrian counter flow, such as lane formation and segregation phenomenon for normal condition. Furthermore, an interesting feature is found that when pedestrians are in an extremely nervous state, a stable lane formation will be broken by a disordered mixture flow. The psychological nervousness under an emergency is not always negative to moving efficiency and a moderate level of tension will delay the occurrence of jamming phase. In addition, a larger asymmetrical ratio of left walkers to right walkers will improve the critical density related to the jamming phase and retard the occurrence of completely jammed phase. These findings will be helpful in pedestrian control and management under an emergency.

  13. Complexity of genetic mechanisms conferring nonuniformity of recombination in maize.

    PubMed

    Pan, Qingchun; Deng, Min; Yan, Jianbing; Li, Lin

    2017-04-26

    Recombinations occur nonuniformly across the maize genome. To dissect the genetic mechanisms underlying the nonuniformity of recombination, we performed quantitative trait locus (QTL) mapping using recombinant inbred line populations. Genome-wide QTL scan identified hundreds of QTLs with both cis-prone and trans- effects for recombination number variation. To provide detailed insights into cis- factors associated with recombination variation, we examined the genomic features around recombination hot regions, including density of genes, DNA transposons, retrotransposons, and some specific motifs. Compared to recombination variation in whole genome, more QTLs were mapped for variations in recombination hot regions. The majority QTLs for recombination hot regions are trans-QTLs and co-localized with genes from the recombination pathway. We also found that recombination variation was positively associated with the presence of genes and DNA transposons, but negatively related to the presence of long terminal repeat retrotransposons. Additionally, 41 recombination hot regions were fine-mapped. The high-resolution genotyping of five randomly selected regions in two F 2 populations verified that they indeed have ultra-high recombination frequency, which is even higher than that of the well-known recombination hot regions sh1-bz and a1-sh2. Taken together, our results further our understanding of recombination variation in plants.

  14. Selection on quantitative colour variation in Centaurea cyanus: the role of the pollinator's visual system.

    PubMed

    Renoult, J P; Thomann, M; Schaefer, H M; Cheptou, P-O

    2013-11-01

    Even though the importance of selection for trait evolution is well established, we still lack a functional understanding of the mechanisms underlying phenotypic selection. Because animals necessarily use their sensory system to perceive phenotypic traits, the model of sensory bias assumes that sensory systems are the main determinant of signal evolution. Yet, it has remained poorly known how sensory systems contribute to shaping the fitness surface of selected individuals. In a greenhouse experiment, we quantified the strength and direction of selection on floral coloration in a population of cornflowers exposed to bumblebees as unique pollinators during 4 days. We detected significant selection on the chromatic and achromatic (brightness) components of floral coloration. We then studied whether these patterns of selection are explicable by accounting for the visual system of the pollinators. Using data on bumblebee colour vision, we first showed that bumblebees should discriminate among quantitative colour variants. The observed selection was then compared to the selection predicted by psychophysical models of bumblebee colour vision. The achromatic but not the chromatic channel of the bumblebee's visual system could explain the observed pattern of selection. These results highlight that (i) pollinators can select quantitative variation in floral coloration and could thus account for a gradual evolution of flower coloration, and (ii) stimulation of the visual system represents, at least partly, a functional mechanism potentially explaining pollinators' selection on floral colour variants. © 2013 The Authors. Journal of Evolutionary Biology © 2013 European Society For Evolutionary Biology.

  15. Blood lipid measurements. Variations and practical utility.

    PubMed

    Cooper, G R; Myers, G L; Smith, S J; Schlant, R C

    1992-03-25

    To describe the magnitude and impact of the major biological and analytical sources of variation in serum lipid and lipoprotein levels on risk of coronary heart disease; to present a way to qualitatively estimate the total intraindividual variation; and to demonstrate how to determine the number of specimens required to estimate, with 95% confidence, the "true" underlying total cholesterol value in the serum of a patient. Representative references on each source of variation were selected from more than 300 reviewed publications, most published within the past 5 years, to document current findings and concepts. Most articles reviewed were in English. Studies on biological sources of variation were selected using the following criteria: representative of published findings, clear statement of either significant or insignificant results, and acquisition of clinical and laboratory data under standardized conditions. Representative results for special populations such as women and children are reported when results differ from those of adult men. References were selected based on acceptable experimental design and use of standardized laboratory lipid measurements. The lipid levels considered representative for a selected source of variation arose from quantitative measurements by a suitably standardized laboratory. Statistical analysis of data was examined to assure reliability. The proposed method of estimating the biological coefficient of variation must be considered to give qualitative results, because only two or three serial specimens are collected in most cases for the estimation. Concern has arisen about the magnitude, impact, and interpretation of preanalytical as well as analytical sources of variation on reported results of lipid measurements of an individual. Preanalytical sources of variation from behavioral, clinical, and sampling sources constitute about 60% of the total variation in a reported lipid measurement of an individual. A technique is presented to allow physicians to qualitatively estimate the intraindividual biological variation of a patient from the results of two or more specimens reported from a standardized laboratory and to determine whether additional specimens are needed to meet the National Cholesterol Education Program recommendation that the intraindividual serum total cholesterol coefficient of variation not exceed 5.0. A National Reference Method Network has been established to help solve analytical problems.

  16. Assessing signal-to-noise in quantitative proteomics: multivariate statistical analysis in DIGE experiments.

    PubMed

    Friedman, David B

    2012-01-01

    All quantitative proteomics experiments measure variation between samples. When performing large-scale experiments that involve multiple conditions or treatments, the experimental design should include the appropriate number of individual biological replicates from each condition to enable the distinction between a relevant biological signal from technical noise. Multivariate statistical analyses, such as principal component analysis (PCA), provide a global perspective on experimental variation, thereby enabling the assessment of whether the variation describes the expected biological signal or the unanticipated technical/biological noise inherent in the system. Examples will be shown from high-resolution multivariable DIGE experiments where PCA was instrumental in demonstrating biologically significant variation as well as sample outliers, fouled samples, and overriding technical variation that would not be readily observed using standard univariate tests.

  17. Boron toxicity in rice (Oryza sativa L.). I. Quantitative trait locus (QTL) analysis of tolerance to boron toxicity.

    PubMed

    Ochiai, K; Uemura, S; Shimizu, A; Okumoto, Y; Matoh, T

    2008-06-01

    Boron toxicity tolerance of rice plants was studied. Modern japonica subspecies such as Koshihikari, Nipponbare, and Sasanishiki were tolerant, whereas indica subspecies such as Kasalath and IR36 were intolerant to excessive application of boron (B), even though their shoot B contents under B toxicity were not significantly different. Recombinant inbred lines (RILs) of japonica Nekken-1 and indica IR36 were used for quantitative trait locus (QTL) analysis to identify the gene responsible for B toxicity tolerance. A major QTL that could explain 45% of the phenotypic variation was detected in chromosome 4. The QTL was confirmed using a population derived from a recombinant inbred line which is heterogenic at the QTL region. The QTL was also confirmed in other chromosome segment substitution lines (CSSLs).

  18. Natural variation of potato allene oxide synthase 2 causes differential levels of jasmonates and pathogen resistance in Arabidopsis

    PubMed Central

    Pajerowska-Mukhtar, Karolina M.; Mukhtar, M. Shahid; Guex, Nicolas; Halim, Vincentius A.; Rosahl, Sabine; Somssich, Imre E.

    2008-01-01

    Natural variation of plant pathogen resistance is often quantitative. This type of resistance can be genetically dissected in quantitative resistance loci (QRL). To unravel the molecular basis of QRL in potato (Solanum tuberosum), we employed the model plant Arabidopsis thaliana for functional analysis of natural variants of potato allene oxide synthase 2 (StAOS2). StAOS2 is a candidate gene for QRL on potato chromosome XI against the oömycete Phytophthora infestans causing late blight, and the bacterium Erwinia carotovora ssp. atroseptica causing stem black leg and tuber soft rot, both devastating diseases in potato cultivation. StAOS2 encodes a cytochrome P450 enzyme that is essential for biosynthesis of the defense signaling molecule jasmonic acid. Allele non-specific dsRNAi-mediated silencing of StAOS2 in potato drastically reduced jasmonic acid production and compromised quantitative late blight resistance. Five natural StAOS2 alleles were expressed in the null Arabidopsis aos mutant under control of the Arabidopsis AOS promoter and tested for differential complementation phenotypes. The aos mutant phenotypes evaluated were lack of jasmonates, male sterility and susceptibility to Erwinia carotovora ssp. carotovora. StAOS2 alleles that were associated with increased disease resistance in potato complemented all aos mutant phenotypes better than StAOS2 alleles associated with increased susceptibility. First structure models of ‘quantitative resistant’ versus ‘quantitative susceptible’ StAOS2 alleles suggested potential mechanisms for their differential activity. Our results demonstrate how a candidate gene approach in combination with using the homologous Arabidopsis mutant as functional reporter can help to dissect the molecular basis of complex traits in non model crop plants. Electronic supplementary material The online version of this article (doi:10.1007/s00425-008-0737-x) contains supplementary material, which is available to authorized users. PMID:18431595

  19. Multivariate reference technique for quantitative analysis of fiber-optic tissue Raman spectroscopy.

    PubMed

    Bergholt, Mads Sylvest; Duraipandian, Shiyamala; Zheng, Wei; Huang, Zhiwei

    2013-12-03

    We report a novel method making use of multivariate reference signals of fused silica and sapphire Raman signals generated from a ball-lens fiber-optic Raman probe for quantitative analysis of in vivo tissue Raman measurements in real time. Partial least-squares (PLS) regression modeling is applied to extract the characteristic internal reference Raman signals (e.g., shoulder of the prominent fused silica boson peak (~130 cm(-1)); distinct sapphire ball-lens peaks (380, 417, 646, and 751 cm(-1))) from the ball-lens fiber-optic Raman probe for quantitative analysis of fiber-optic Raman spectroscopy. To evaluate the analytical value of this novel multivariate reference technique, a rapid Raman spectroscopy system coupled with a ball-lens fiber-optic Raman probe is used for in vivo oral tissue Raman measurements (n = 25 subjects) under 785 nm laser excitation powers ranging from 5 to 65 mW. An accurate linear relationship (R(2) = 0.981) with a root-mean-square error of cross validation (RMSECV) of 2.5 mW can be obtained for predicting the laser excitation power changes based on a leave-one-subject-out cross-validation, which is superior to the normal univariate reference method (RMSE = 6.2 mW). A root-mean-square error of prediction (RMSEP) of 2.4 mW (R(2) = 0.985) can also be achieved for laser power prediction in real time when we applied the multivariate method independently on the five new subjects (n = 166 spectra). We further apply the multivariate reference technique for quantitative analysis of gelatin tissue phantoms that gives rise to an RMSEP of ~2.0% (R(2) = 0.998) independent of laser excitation power variations. This work demonstrates that multivariate reference technique can be advantageously used to monitor and correct the variations of laser excitation power and fiber coupling efficiency in situ for standardizing the tissue Raman intensity to realize quantitative analysis of tissue Raman measurements in vivo, which is particularly appealing in challenging Raman endoscopic applications.

  20. Describing the physiological responses of different rice genotypes to salt stress using sigmoid and piecewise linear functions.

    PubMed

    Radanielson, Ando M; Angeles, Olivyn; Li, Tao; Ismail, Abdelbagi M; Gaydon, Donald S

    2018-05-01

    Rice is the staple food for almost half of the world population. In South and South East Asia, about 40% of rice production is from deltaic regions that are vulnerable to salt stress. A quantitative approach was developed for characterizing genotypic variability in biomass production, leaf transpiration rate and leaf net photosynthesis responses to salinity during the vegetative stage, with the aim of developing efficient screening protocols to accelerate breeding varieties adapted to salt-affected areas. Three varieties were evaluated in pots under greenhouse conditions and in the field, with average soil salinity ranging from 2 to 12 dS m -1 . Plant biomass, net photosynthesis rate, leaf transpiration rate and leaf conductance were measured at regular intervals. Crop responses were fitted using a logistic function with three parameters: 1) maximum rate under control conditions (Y max ), 2) salinity level for 50% of reduction (b), and 3) rate of reduction ( a) . Variation in the three parameters correlated significantly with variation in plant biomass production under increasing salinity. Salt stress levels that caused 50% reduction in net leaf photosynthesis and transpiration rates were higher in the tolerant genotype BRRI Dhan47 (16.5 dS m -1 and 14.3 dS m -1 , respectively) than the sensitive genotype IR29 (11.1 dS m -1 and 6.8 dS m -1 ). In BRRI Dhan47, the threshold beyond which growth was significantly reduced was above 5 dS m -1 and the rate of growth reduction beyond this threshold was as low as 4% per unit increase in salinity. This quantitative approach to screening for salinity tolerance in rice offers a means to better understand rice growth under salt stress and, using simulation modelling, can provide an improved tool for varietal characterization.

  1. Quantitative trait loci and metabolic pathways

    PubMed Central

    McMullen, M. D.; Byrne, P. F.; Snook, M. E.; Wiseman, B. R.; Lee, E. A.; Widstrom, N. W.; Coe, E. H.

    1998-01-01

    The interpretation of quantitative trait locus (QTL) studies is limited by the lack of information on metabolic pathways leading to most economic traits. Inferences about the roles of the underlying genes with a pathway or the nature of their interaction with other loci are generally not possible. An exception is resistance to the corn earworm Helicoverpa zea (Boddie) in maize (Zea mays L.) because of maysin, a C-glycosyl flavone synthesized in silks via a branch of the well characterized flavonoid pathway. Our results using flavone synthesis as a model QTL system indicate: (i) the importance of regulatory loci as QTLs, (ii) the importance of interconnecting biochemical pathways on product levels, (iii) evidence for “channeling” of intermediates, allowing independent synthesis of related compounds, (iv) the utility of QTL analysis in clarifying the role of specific genes in a biochemical pathway, and (v) identification of a previously unknown locus on chromosome 9S affecting flavone level. A greater understanding of the genetic basis of maysin synthesis and associated corn earworm resistance should lead to improved breeding strategies. More broadly, the insights gained in relating a defined genetic and biochemical pathway affecting a quantitative trait should enhance interpretation of the biological basis of variation for other quantitative traits. PMID:9482823

  2. Nonparametric modeling of longitudinal covariance structure in functional mapping of quantitative trait loci.

    PubMed

    Yap, John Stephen; Fan, Jianqing; Wu, Rongling

    2009-12-01

    Estimation of the covariance structure of longitudinal processes is a fundamental prerequisite for the practical deployment of functional mapping designed to study the genetic regulation and network of quantitative variation in dynamic complex traits. We present a nonparametric approach for estimating the covariance structure of a quantitative trait measured repeatedly at a series of time points. Specifically, we adopt Huang et al.'s (2006, Biometrika 93, 85-98) approach of invoking the modified Cholesky decomposition and converting the problem into modeling a sequence of regressions of responses. A regularized covariance estimator is obtained using a normal penalized likelihood with an L(2) penalty. This approach, embedded within a mixture likelihood framework, leads to enhanced accuracy, precision, and flexibility of functional mapping while preserving its biological relevance. Simulation studies are performed to reveal the statistical properties and advantages of the proposed method. A real example from a mouse genome project is analyzed to illustrate the utilization of the methodology. The new method will provide a useful tool for genome-wide scanning for the existence and distribution of quantitative trait loci underlying a dynamic trait important to agriculture, biology, and health sciences.

  3. Novel genetic capacitors and potentiators for the natural genetic variation of sensory bristles and their trait specificity in Drosophila melanogaster.

    PubMed

    Takahashi, Kazuo H

    2015-11-01

    Cryptic genetic variation (CGV) is defined as the genetic variation that has little effect on phenotypic variation under a normal condition, but contributes to heritable variation under environmental or genetic perturbations. Genetic buffering systems that suppress the expression of CGV and store it in a population are called genetic capacitors, and the opposite systems are called genetic potentiators. One of the best-known candidates for a genetic capacitor and potentiator is the molecular chaperone protein, HSP90, and one of its characteristics is that it affects the genetic variation in various morphological traits. However, it remains unclear whether the wide-ranging effects of HSP90 on a broad range of traits are a general feature of genetic capacitors and potentiators. In the current study, I searched for novel genetic capacitors and potentiators for quantitative bristle traits of Drosophila melanogaster and then investigated the trait specificity of their genetic buffering effect. Three bristle traits of D. melanogaster were used as the target traits, and the genomic regions with genetic buffering effects were screened using the 61 genomic deficiencies examined previously for genetic buffering effects in wing shape. As a result, four and six deficiencies with significant effects on increasing and decreasing the broad-sense heritability of the bristle traits were identified, respectively. Of the 18 deficiencies with significant effects detected in the current study and/or by the previous study, 14 showed trait-specific effects, and four affected the genetic buffering of both bristle traits and wing shape. This suggests that most genetic capacitors and potentiators exert trait-specific effects, but that general capacitors and potentiators with effects on multiple traits also exist. © 2015 John Wiley & Sons Ltd.

  4. SNP-Based QTL Mapping of 15 Complex Traits in Barley under Rain-Fed and Well-Watered Conditions by a Mixed Modeling Approach.

    PubMed

    Mora, Freddy; Quitral, Yerko A; Matus, Ivan; Russell, Joanne; Waugh, Robbie; Del Pozo, Alejandro

    2016-01-01

    This study identified single nucleotide polymorphism (SNP) markers associated with 15 complex traits in a breeding population of barley (Hordeum vulgare L.) consisting of 137 recombinant chromosome substitution lines (RCSL), evaluated under contrasting water availability conditions in the Mediterranean climatic region of central Chile. Given that markers showed a very strong segregation distortion, a quantitative trait locus/loci (QTL) mapping mixed model was used to account for the heterogeneity in genetic relatedness between genotypes. Fifty-seven QTL were detected under rain-fed conditions, which accounted for 5-22% of the phenotypic variation. In full irrigation conditions, 84 SNPs were significantly associated with the traits studied, explaining 5-35% of phenotypic variation. Most of the QTL were co-localized on chromosomes 2H and 3H. Environment-specific genomic regions were detected for 12 of the 15 traits scored. Although most QTL-trait associations were environment and trait specific, some important and stable associations were also detected. In full irrigation conditions, a relatively major genomic region was found underlying hectoliter weight (HW), on chromosome 1H, which explained between 27% (SNP 2711-234) and 35% (SNP 1923-265) of the phenotypic variation. Interestingly, the locus 1923-265 was also detected for grain yield at both environmental conditions, accounting for 9 and 18%, in the rain-fed and irrigation conditions, respectively. Analysis of QTL in this breeding population identified significant genomic regions that can be used for marker-assisted selection (MAS) of barley in areas where drought is a significant constraint.

  5. SNP-Based QTL Mapping of 15 Complex Traits in Barley under Rain-Fed and Well-Watered Conditions by a Mixed Modeling Approach

    PubMed Central

    Mora, Freddy; Quitral, Yerko A.; Matus, Ivan; Russell, Joanne; Waugh, Robbie; del Pozo, Alejandro

    2016-01-01

    This study identified single nucleotide polymorphism (SNP) markers associated with 15 complex traits in a breeding population of barley (Hordeum vulgare L.) consisting of 137 recombinant chromosome substitution lines (RCSL), evaluated under contrasting water availability conditions in the Mediterranean climatic region of central Chile. Given that markers showed a very strong segregation distortion, a quantitative trait locus/loci (QTL) mapping mixed model was used to account for the heterogeneity in genetic relatedness between genotypes. Fifty-seven QTL were detected under rain-fed conditions, which accounted for 5–22% of the phenotypic variation. In full irrigation conditions, 84 SNPs were significantly associated with the traits studied, explaining 5–35% of phenotypic variation. Most of the QTL were co-localized on chromosomes 2H and 3H. Environment-specific genomic regions were detected for 12 of the 15 traits scored. Although most QTL-trait associations were environment and trait specific, some important and stable associations were also detected. In full irrigation conditions, a relatively major genomic region was found underlying hectoliter weight (HW), on chromosome 1H, which explained between 27% (SNP 2711-234) and 35% (SNP 1923-265) of the phenotypic variation. Interestingly, the locus 1923-265 was also detected for grain yield at both environmental conditions, accounting for 9 and 18%, in the rain-fed and irrigation conditions, respectively. Analysis of QTL in this breeding population identified significant genomic regions that can be used for marker-assisted selection (MAS) of barley in areas where drought is a significant constraint. PMID:27446139

  6. Genetic validation of whole-transcriptome sequencing for mapping expression affected by cis-regulatory variation

    PubMed Central

    2010-01-01

    Background Identifying associations between genotypes and gene expression levels using microarrays has enabled systematic interrogation of regulatory variation underlying complex phenotypes. This approach has vast potential for functional characterization of disease states, but its prohibitive cost, given hundreds to thousands of individual samples from populations have to be genotyped and expression profiled, has limited its widespread application. Results Here we demonstrate that genomic regions with allele-specific expression (ASE) detected by sequencing cDNA are highly enriched for cis-acting expression quantitative trait loci (cis-eQTL) identified by profiling of 500 animals in parallel, with up to 90% agreement on the allele that is preferentially expressed. We also observed widespread noncoding and antisense ASE and identified several allele-specific alternative splicing variants. Conclusion Monitoring ASE by sequencing cDNA from as little as one sample is a practical alternative to expression genetics for mapping cis-acting variation that regulates RNA transcription and processing. PMID:20707912

  7. Metabolomic profiling of beer reveals effect of temperature on non-volatile small molecules during short-term storage.

    PubMed

    Heuberger, Adam L; Broeckling, Corey D; Lewis, Matthew R; Salazar, Lauren; Bouckaert, Peter; Prenni, Jessica E

    2012-12-01

    The effect of temperature on non-volatile compounds in beer has not been well characterised during storage. Here, a metabolomics approach was applied to characterise the effect of storage temperature on non-volatile metabolite variation after 16weeks of storage, using fresh beer as a control. The metabolite profile of room temperature stored (RT) and cold temperature stored (CT) beer differed significantly from fresh, with the most substantial variation observed between RT and fresh beer. Metabolites that changed during storage included prenylated flavonoids, purines, and peptides, and all showed reduced quantitative variation under the CT storage conditions. Corresponding sensory panel observations indicated significant beer oxidation after 12 and 16weeks of storage, with higher values reported for RT samples. These data support that temperature affected beer oxidation during short-term storage, and reveal 5-methylthioadenosine (5-MTA) as a candidate non-volatile metabolite marker for beer oxidation and staling. Copyright © 2012 Elsevier Ltd. All rights reserved.

  8. Mechanism and Effect of Temperature on Variations in Antibiotic Resistance Genes during Anaerobic Digestion of Dairy Manure.

    PubMed

    Sun, Wei; Qian, Xun; Gu, Jie; Wang, Xiao-Juan; Duan, Man-Li

    2016-07-22

    Animal manure comprises an important reservoir for antibiotic resistance genes (ARGs), but the variation in ARGs during anaerobic digestion at various temperatures and its underlying mechanism remain unclear. Thus, we performed anaerobic digestion using dairy manure at three temperature levels (moderate: 20 °C, mesophilic: 35 °C, and thermophilic: 55 °C), to analyze the dynamics of ARGs and bacterial communities by quantitative PCR and 16S rRNA gene sequencing. We found that 8/10 detected ARGs declined and 5/10 decreased more than 1.0 log during thermophilic digestion, whereas only four and five ARGs decreased during moderate and mesophilic digestion, respectively. The changes in ARGs and bacterial communities were similar under the moderate and mesophilic treatments, but distinct from those in the thermophilic system. Potential pathogens such as Bacteroidetes, Proteobacteria, and Corynebacterium were removed by thermophilic digestion but not by moderate and mesophilic digestion. The bacterial community succession was the dominant mechanism that influenced the variation in ARGs and integrons during anaerobic digestion. Thermophilic digestion decreased the amount of mesophilic bacteria (Bacteroidetes and Proteobacteria) carrying ARGs. Anaerobic digestion generally decreased the abundance of integrons by eliminating the aerobic hosts of integrons (Actinomycetales and Bacilli). Thermophilic anaerobic digestion is recommended for the treatment and reuse of animal manure.

  9. Mechanism and Effect of Temperature on Variations in Antibiotic Resistance Genes during Anaerobic Digestion of Dairy Manure

    NASA Astrophysics Data System (ADS)

    Sun, Wei; Qian, Xun; Gu, Jie; Wang, Xiao-Juan; Duan, Man-Li

    2016-07-01

    Animal manure comprises an important reservoir for antibiotic resistance genes (ARGs), but the variation in ARGs during anaerobic digestion at various temperatures and its underlying mechanism remain unclear. Thus, we performed anaerobic digestion using dairy manure at three temperature levels (moderate: 20 °C, mesophilic: 35 °C, and thermophilic: 55 °C), to analyze the dynamics of ARGs and bacterial communities by quantitative PCR and 16S rRNA gene sequencing. We found that 8/10 detected ARGs declined and 5/10 decreased more than 1.0 log during thermophilic digestion, whereas only four and five ARGs decreased during moderate and mesophilic digestion, respectively. The changes in ARGs and bacterial communities were similar under the moderate and mesophilic treatments, but distinct from those in the thermophilic system. Potential pathogens such as Bacteroidetes, Proteobacteria, and Corynebacterium were removed by thermophilic digestion but not by moderate and mesophilic digestion. The bacterial community succession was the dominant mechanism that influenced the variation in ARGs and integrons during anaerobic digestion. Thermophilic digestion decreased the amount of mesophilic bacteria (Bacteroidetes and Proteobacteria) carrying ARGs. Anaerobic digestion generally decreased the abundance of integrons by eliminating the aerobic hosts of integrons (Actinomycetales and Bacilli). Thermophilic anaerobic digestion is recommended for the treatment and reuse of animal manure.

  10. Quantitative analysis of the effect of climate change and human activities on runoff in the Liujiang River Basin

    NASA Astrophysics Data System (ADS)

    LI, X.

    2017-12-01

    Abstract: As human basic and strategic natural resources, Water resources have received an unprecedented challenge under the impacts of global climate change. Analyzing the variation characteristics of runoff and the effect of climate change and human activities on runoff could provide the basis for the reasonable utilization and management of water resources. Taking the Liujiang River Basin as the research object, the discharge data of hydrological station and meteorological data at 24 meteorological stations in the Guangxi Province as the basis, the variation characteristics of runoff and precipitation in the Liujiang River Basin was analyzed, and the quantitatively effect of climate change and human activities on runoff was proposed. The results showed that runoff and precipitation in the Liujiang River Basin had an increasing trend from 1964 to 2006. Using the method of accumulative anomaly and the orderly cluster method, the runoff series was divided into base period and change period. BP - ANN model and sensitivity coefficient method were used for quantifying the influences of climate change and human activities on runoff. We found that the most important factor which caused an increase trend of discharges in the Liujiang River Basin was precipitation. Human activities were also important factors which influenced the intra-annual distribution of runoff. Precipitation had a more sensitive influence to runoff variation than potential evaporation in the Liujiang River Basin. Key words: Liujiang River Basin, climate change, human activities, BP-ANN, sensitivity coefficient method

  11. Dissection of expression-quantitative trait locus and allele specificity using a haploid/diploid plant system - insights into compensatory evolution of transcriptional regulation within populations.

    PubMed

    Verta, Jukka-Pekka; Landry, Christian R; MacKay, John

    2016-07-01

    Regulation of gene expression plays a central role in translating genotypic variation into phenotypic variation. Dissection of the genetic basis of expression variation is key to understanding how expression regulation evolves. Such analyses remain challenging in contexts where organisms are outbreeding, highly heterozygous and long-lived such as in the case of conifer trees. We developed an RNA sequencing (RNA-seq)-based approach for both expression-quantitative trait locus (eQTL) mapping and the detection of cis-acting (allele-specific) vs trans-acting (non-allele-specific) eQTLs. This method can be potentially applied to many conifers. We used haploid and diploid meiotic seed tissues of a single self-fertilized white spruce (Picea glauca) individual to dissect eQTLs according to linkage and allele specificity. The genetic architecture of local eQTLs linked to the expressed genes was particularly complex, consisting of cis-acting, trans-acting and, surprisingly, compensatory cis-trans effects. These compensatory effects influence expression in opposite directions and are neutral when combined in homozygotes. Nearly half of local eQTLs were under compensation, indicating that close linkage between compensatory cis-trans factors is common in spruce. Compensated genes were overrepresented in developmental and cell organization functions. Our haploid-diploid eQTL analysis in spruce revealed that compensatory cis-trans eQTLs segregate within populations and evolve in close genetic linkage. © 2016 The Authors. New Phytologist © 2016 New Phytologist Trust.

  12. Quantitative trait loci mapping of the mouse plasma proteome (pQTL).

    PubMed

    Holdt, Lesca M; von Delft, Annette; Nicolaou, Alexandros; Baumann, Sven; Kostrzewa, Markus; Thiery, Joachim; Teupser, Daniel

    2013-02-01

    A current challenge in the era of genome-wide studies is to determine the responsible genes and mechanisms underlying newly identified loci. Screening of the plasma proteome by high-throughput mass spectrometry (MALDI-TOF MS) is considered a promising approach for identification of metabolic and disease processes. Therefore, plasma proteome screening might be particularly useful for identifying responsible genes when combined with analysis of variation in the genome. Here, we describe a proteomic quantitative trait locus (pQTL) study of plasma proteome screens in an F(2) intercross of 455 mice mapped with 177 genetic markers across the genome. A total of 69 of 176 peptides revealed significant LOD scores (≥5.35) demonstrating strong genetic regulation of distinct components of the plasma proteome. Analyses were confirmed by mechanistic studies and MALDI-TOF/TOF, liquid chromatography-tandem mass spectrometry (LC-MS/MS) analyses of the two strongest pQTLs: A pQTL for mass-to-charge ratio (m/z) 3494 (LOD 24.9, D11Mit151) was identified as the N-terminal 35 amino acids of hemoglobin subunit A (Hba) and caused by genetic variation in Hba. Another pQTL for m/z 8713 (LOD 36.4; D1Mit111) was caused by variation in apolipoprotein A2 (Apoa2) and cosegregated with HDL cholesterol. Taken together, we show that genome-wide plasma proteome profiling in combination with genome-wide genetic screening aids in the identification of causal genetic variants affecting abundance of plasma proteins.

  13. Quantitative Trait Loci Mapping of the Mouse Plasma Proteome (pQTL)

    PubMed Central

    Holdt, Lesca M.; von Delft, Annette; Nicolaou, Alexandros; Baumann, Sven; Kostrzewa, Markus; Thiery, Joachim; Teupser, Daniel

    2013-01-01

    A current challenge in the era of genome-wide studies is to determine the responsible genes and mechanisms underlying newly identified loci. Screening of the plasma proteome by high-throughput mass spectrometry (MALDI-TOF MS) is considered a promising approach for identification of metabolic and disease processes. Therefore, plasma proteome screening might be particularly useful for identifying responsible genes when combined with analysis of variation in the genome. Here, we describe a proteomic quantitative trait locus (pQTL) study of plasma proteome screens in an F2 intercross of 455 mice mapped with 177 genetic markers across the genome. A total of 69 of 176 peptides revealed significant LOD scores (≥5.35) demonstrating strong genetic regulation of distinct components of the plasma proteome. Analyses were confirmed by mechanistic studies and MALDI-TOF/TOF, liquid chromatography-tandem mass spectrometry (LC-MS/MS) analyses of the two strongest pQTLs: A pQTL for mass-to-charge ratio (m/z) 3494 (LOD 24.9, D11Mit151) was identified as the N-terminal 35 amino acids of hemoglobin subunit A (Hba) and caused by genetic variation in Hba. Another pQTL for m/z 8713 (LOD 36.4; D1Mit111) was caused by variation in apolipoprotein A2 (Apoa2) and cosegregated with HDL cholesterol. Taken together, we show that genome-wide plasma proteome profiling in combination with genome-wide genetic screening aids in the identification of causal genetic variants affecting abundance of plasma proteins. PMID:23172855

  14. Neutral mutation as the source of genetic variation in life history traits.

    PubMed

    Brcić-Kostić, Krunoslav

    2005-08-01

    The mechanism underlying the maintenance of adaptive genetic variation is a long-standing question in evolutionary genetics. There are two concepts (mutation-selection balance and balancing selection) which are based on the phenotypic differences between alleles. Mutation - selection balance and balancing selection cannot properly explain the process of gene substitution, i.e. the molecular evolution of quantitative trait loci affecting fitness. I assume that such loci have non-essential functions (small effects on fitness), and that they have the potential to evolve into new functions and acquire new adaptations. Here I show that a high amount of neutral polymorphism at these loci can exist in real populations. Consistent with this, I propose a hypothesis for the maintenance of genetic variation in life history traits which can be efficient for the fixation of alleles with very small selective advantage. The hypothesis is based on neutral polymorphism at quantitative trait loci and both neutral and adaptive gene substitutions. The model of neutral - adaptive conversion (NAC) assumes that neutral alleles are not neutral indefinitely, and that in specific and very rare situations phenotypic (relative fitness) differences between them can appear. In this paper I focus on NAC due to phenotypic plasticity of neutral alleles. The important evolutionary consequence of NAC could be the increased adaptive potential of a population. Loci responsible for adaptation should be fast evolving genes with minimally discernible phenotypic effects, and the recent discovery of genes with such characteristics implicates them as suitable candidates for loci involved in adaptation.

  15. Synchronous monitoring of muscle dynamics and muscle force for maximum isometric tetanus

    NASA Astrophysics Data System (ADS)

    Zakir Hossain, M.; Grill, Wolfgang

    2010-03-01

    Skeletal muscle is a classic example of a biological soft matter . At both macro and microscopic levels, skeletal muscle is exquisitely oriented for force generation and movement. In addition to the dynamics of contracting and relaxing muscle which can be monitored with ultrasound, variations in the muscle force are also expected to be monitored. To observe such force and sideways expansion variations synchronously for the skeletal muscle a novel detection scheme has been developed. As already introduced for the detection of sideways expansion variations of the muscle, ultrasonic transducers are mounted sideways on opposing positions of the monitored muscle. To detect variations of the muscle force, angle of pull of the monitored muscle has been restricted by the mechanical pull of the sonic force sensor. Under this condition, any variation in the time-of-flight (TOF) of the transmitted ultrasonic signals can be introduced by the variation of the path length between the transducers. The observed variations of the TOF are compared to the signals obtained by ultrasound monitoring for the muscle dynamics. The general behavior of the muscle dynamics and muscle force shows almost an identical concept. Since muscle force also relates the psychological boosting-up effects, the influence of boosting-up on muscle force and muscle dynamics can also be quantified form this study. Length-tension or force-length and force-velocity relationship can also be derived quantitatively with such monitoring.

  16. The genetic basis of female multiple mating in a polyandrous livebearing fish

    PubMed Central

    Evans, Jonathan P; Gasparini, Clelia

    2013-01-01

    The widespread occurrence of female multiple mating (FMM) demands evolutionary explanation, particularly in the light of the costs of mating. One explanation encapsulated by “good sperm” and “sexy-sperm” (GS-SS) theoretical models is that FMM facilitates sperm competition, thus ensuring paternity by males that pass on genes for elevated sperm competitiveness to their male offspring. While support for this component of GS-SS theory is accumulating, a second but poorly tested assumption of these models is that there should be corresponding heritable genetic variation in FMM – the proposed mechanism of postcopulatory preferences underlying GS-SS models. Here, we conduct quantitative genetic analyses on paternal half-siblings to test this component of GS-SS theory in the guppy (Poecilia reticulata), a freshwater fish with some of the highest known rates of FMM in vertebrates. As with most previous quantitative genetic analyses of FMM in other species, our results reveal high levels of phenotypic variation in this trait and a correspondingly low narrow-sense heritability (h2 = 0.11). Furthermore, although our analysis of additive genetic variance in FMM was not statistically significant (probably owing to limited statistical power), the ensuing estimate of mean-standardized additive genetic variance (IA = 0.7) was nevertheless relatively low compared with estimates published for life-history traits across a broad range of taxa. Our results therefore add to a growing body of evidence that FMM is characterized by relatively low additive genetic variation, thus apparently contradicting GS-SS theory. However, we qualify this conclusion by drawing attention to potential deficiencies in most designs (including ours) that have tested for genetic variation in FMM, particularly those that fail to account for intersexual interactions that underlie FMM in many systems. PMID:23403856

  17. Phenotypic plasticity of Vaccinium meridionale (Ericaceae) in wild populations of mountain forests in Colombia.

    PubMed

    Ligarreto, Gustavo A; Patiño, Maria del Pilar; Magnitskiy, Stanislav V

    2011-06-01

    Vaccinium meridionale is a promising crop for the Andean region of South America and is currently available only in the wild. Spontaneous populations of this plant are found across the Colombian mountains, but very few published records on this plant morphology are available. A zonification study of V. meridionale was conducted in four principal areas of a low mountain forest of Colombia (Provinces of Boyacá, Cundinamarca, Santander and Nariño) in 2007. A total of 20 populations and 100 plants of V. meridionale were individually characterized and surveyed, using a list of 26 characters of morphological variables (9 quantitative and 17 qualitative characters). Our results indicated that natural populations of V. meridionale might be found in the tropical forest under a highly heterogeneous climate and microclimate conditions, at different mountain regions between 2 357 and 3 168masl. The shrubs of V. meridionale exhibited a high level of intra-population variation in several quantitative (plant height, stem diameter) and qualitative (growth habit, ramification density, presence of anthocyanins in stems) morphological characters, suggesting an environmentally induced phenotypic plasticity. Plant height, stem diameter and foliar density were the most variable morphological traits, with coefficients of variation higher than 50%. However, several quantitative characters of its reproductive potential, such as berry dimensions, rachis length and number of flowers per inflorescence, resulted with low plasticity with coefficients of variation lower than 30.2%, indicating that these characters were genetically determined. The highest correlation coefficients (p < 0.05) resulted to be between fruit length and fruit width (0.90), leaf length and leaf width (0.78), plant height and stem diameter (0.60), and inflorescence length and flowers number per inflorescence (0.57). The results suggest that an important genetic resource exists for this species in the wild. Low variation in fruit size, which constitutes a target trait for plant breeders, could be useful for selection of cultivars of V. meridionale. The results of this study could also be applied in conservation programs aimed to protect these diverse populations in the mountain forests of Colombia.

  18. Genetic basis of adaptation in Arabidopsis thaliana: local adaptation at the seed dormancy QTL DOG1.

    PubMed

    Kronholm, Ilkka; Picó, F Xavier; Alonso-Blanco, Carlos; Goudet, Jérôme; de Meaux, Juliette

    2012-07-01

    Local adaptation provides an opportunity to study the genetic basis of adaptation and investigate the allelic architecture of adaptive genes. We study delay of germination 1 (DOG1), a gene controlling natural variation in seed dormancy in Arabidopsis thaliana and investigate evolution of dormancy in 41 populations distributed in four regions separated by natural barriers. Using F(ST) and Q(ST) comparisons, we compare variation at DOG1 with neutral markers and quantitative variation in seed dormancy. Patterns of genetic differentiation among populations suggest that the gene DOG1 contributes to local adaptation. Although Q(ST) for seed dormancy is not different from F(ST) for neutral markers, a correlation with variation in summer precipitation supports that seed dormancy is adaptive. We characterize dormancy variation in several F(2) -populations and show that a series of functionally distinct alleles segregate at the DOG1 locus. Theoretical models have shown that the number and effect of alleles segregatin at quantitative trait loci (QTL) have important consequences for adaptation. Our results provide support to models postulating a large number of alleles at quantitative trait loci involved in adaptation. © 2012 The Author(s).

  19. The genetic architecture of sexually selected traits in two natural populations of Drosophila montana

    PubMed Central

    Veltsos, P; Gregson, E; Morrissey, B; Slate, J; Hoikkala, A; Butlin, R K; Ritchie, M G

    2015-01-01

    We investigated the genetic architecture of courtship song and cuticular hydrocarbon traits in two phygenetically distinct populations of Drosophila montana. To study natural variation in these two important traits, we analysed within-population crosses among individuals sampled from the wild. Hence, the genetic variation analysed should represent that available for natural and sexual selection to act upon. In contrast to previous between-population crosses in this species, no major quantitative trait loci (QTLs) were detected, perhaps because the between-population QTLs were due to fixed differences between the populations. Partitioning the trait variation to chromosomes suggested a broadly polygenic genetic architecture of within-population variation, although some chromosomes explained more variation in one population compared with the other. Studies of natural variation provide an important contrast to crosses between species or divergent lines, but our analysis highlights recent concerns that segregating variation within populations for important quantitative ecological traits may largely consist of small effect alleles, difficult to detect with studies of moderate power. PMID:26198076

  20. Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation.

    PubMed

    Norton, Heather L; Edwards, Melissa; Krithika, S; Johnson, Monique; Werren, Elizabeth A; Parra, Esteban J

    2016-08-01

    The main goals of this study are to 1) quantitatively measure skin, hair, and iris pigmentation in a diverse sample of individuals, 2) describe variation within and between these samples, and 3) demonstrate how quantitative measures can facilitate genotype-phenotype association tests. We quantitatively characterize skin, hair, and iris pigmentation using the Melanin (M) Index (skin) and CIELab values (hair) in 1,450 individuals who self-identify as African American, East Asian, European, Hispanic, or South Asian. We also quantify iris pigmentation in a subset of these individuals using CIELab values from high-resolution iris photographs. We compare mean skin M index and hair and iris CIELab values among populations using ANOVA and MANOVA respectively and test for genotype-phenotype associations in the European sample. All five populations are significantly different for skin (P <2 × 10(-16) ) and hair color (P <2 × 10(-16) ). Our quantitative analysis of iris and hair pigmentation reinforces the continuous, rather than discrete, nature of these traits. We confirm the association of three loci (rs16891982, rs12203592, and rs12913832) with skin pigmentation and four loci (rs12913832, rs12203592, rs12896399, and rs16891982) with hair pigmentation. Interestingly, the derived rs12203592 T allele located within the IRF4 gene is associated with lighter skin but darker hair color. The quantitative methods used here provide a fine-scale assessment of pigmentation phenotype and facilitate genotype-phenotype associations, even with relatively small sample sizes. This represents an important expansion of current investigations into pigmentation phenotype and associated genetic variation by including non-European and admixed populations. Am J Phys Anthropol 160:570-581, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  1. A new method to determine the 2DEG density distribution for passivated AlGaN/AlN/GaN heterostructure field-effect transistors

    NASA Astrophysics Data System (ADS)

    Fu, Chen; Lin, Zhaojun; Cui, Peng; Lv, Yuanjie; Zhou, Yang; Dai, Gang; Luan, Chongbiao; Liu, Huan; Cheng, Aijie

    2018-01-01

    A new method to determine the two-dimensional electron gas (2DEG) density distribution of the AlGaN/AlN/GaN heterostructure field-effect transistors (HFETs) after the Si3N4 passivation process has been presented. Detailed device characteristics were investigated and better transport properties have been observed for the passivated devices. The strain variation and the influence of the surface trapping states were analyzed. By using the polarization Coulomb field (PCF) scattering theory, the 2DEG density after passivation was both quantitively and qualitatively determined, which has been increased by 45% under the access regions and decreased by 2% under the gate region.

  2. Chimpanzee Social Responsiveness Scale (CSRS) Detects Individual Variation in Social Responsiveness for Captive Chimpanzees

    PubMed Central

    Faughn, Carley; Marrus, Natasha; Pruett, John R.; Shuman, Jeremy; Ross, Stephen R.; Constantino, John N.; Povinelli, Daniel J.

    2017-01-01

    Comparative studies of social responsiveness, a core impairment in autism spectrum disorder (ASD), will enhance our understanding of typical and atypical social behavior. We previously reported a quantitative, cross-species (human–chimpanzee) social responsiveness measure, which included the development of the Chimpanzee Social Responsiveness Scale (CSRS). Here, we augment our prior CSRS sample with 25 zoo chimpanzees at three sites: combined N = 54. The CSRS demonstrated strong interrater reliability, and low-ranked chimpanzees, on average, displayed higher CSRS scores. The CSRS continues to discriminate variation in chimpanzee social responsiveness, and the association of higher scores with lower chimpanzee social standing has implications for the relationship between autistic traits and human social status. Continued comparative investigations of social responsiveness will enhance our understanding of underlying impairments in ASD, improve early diagnosis, and inform future therapies. PMID:25312279

  3. Brief Report: Chimpanzee Social Responsiveness Scale (CSRS) Detects Individual Variation in Social Responsiveness for Captive Chimpanzees.

    PubMed

    Faughn, Carley; Marrus, Natasha; Shuman, Jeremy; Ross, Stephen R; Constantino, John N; Pruett, John R; Povinelli, Daniel J

    2015-05-01

    Comparative studies of social responsiveness, a core impairment in autism spectrum disorder (ASD), will enhance our understanding of typical and atypical social behavior. We previously reported a quantitative, cross-species (human-chimpanzee) social responsiveness measure, which included the development of the Chimpanzee Social Responsiveness Scale (CSRS). Here, we augment our prior CSRS sample with 25 zoo chimpanzees at three sites: combined N = 54. The CSRS demonstrated strong interrater reliability, and low-ranked chimpanzees, on average, displayed higher CSRS scores. The CSRS continues to discriminate variation in chimpanzee social responsiveness, and the association of higher scores with lower chimpanzee social standing has implications for the relationship between autistic traits and human social status. Continued comparative investigations of social responsiveness will enhance our understanding of underlying impairments in ASD, improve early diagnosis, and inform future therapies.

  4. [Variation characteristics and influencing factors of actual evapotranspiration under various vegetation types: A case study in the Huaihe River Basin, China.

    PubMed

    Wu, Rong Jun; Xing, Xiao Yong

    2016-06-01

    The actual evapotranspiration was modelled utilizing the boreal ecosystem productivity simulator (BEPS) in Huaihe River Basin from 2001 to 2012. In the meantime, the quantitative analyses of the spatial-temporal variations of actual evapotranspiration characteristics and its influencing factors under different vegetation types were conducted. The results showed that annual evapotranspiration gradually decreased from southeast to northwest, tended to increase annually, and the monthly change for the average annual evapotranspiration was double-peak curve. The differences of evapotranspiration among vegetation types showed that the farmland was the largest contributor for the evapotranspiration of Huaihe Basin. The annual actual evapotranspiration of the mixed forest per unit area was the largest, and that of the bare ground per unit area was the smallest. The changed average annual evapotranspiration per unit area for various vegetation types indicated an increased tendency other than the bare ground, with a most significant increase trend for the evergreen broadleaf forest. The thermodynamic factors (such as average temperature) were the dominant factors affecting the actual evapotranspiration in the Huaihe Basin, followed by radiation and moisture factors.

  5. Genetic variation in bacterial kidney disease (BKD) susceptibility in Lake Michigan Chinook Salmon and its progenitor population from the Puget Sound.

    PubMed

    Purcell, Maureen K; Hard, Jeffrey J; Neely, Kathleen G; Park, Linda K; Winton, James R; Elliott, Diane G

    2014-03-01

    Mass mortality events in wild fish due to infectious diseases are troubling, especially given the potential for long-term, population-level consequences. Evolutionary theory predicts that populations with sufficient genetic variation will adapt in response to pathogen pressure. Chinook Salmon Oncorhynchus tshawytscha were introduced into Lake Michigan in the late 1960s from a Washington State hatchery population. In the late 1980s, collapse of the forage base and nutritional stress in Lake Michigan were thought to contribute to die-offs of Chinook Salmon due to bacterial kidney disease (BKD). Previously, we demonstrated that Lake Michigan Chinook Salmon from a Wisconsin hatchery have greater survival following BKD challenge relative to their progenitor population. Here, we evaluated whether the phenotypic divergence of these populations in BKD susceptibility was due to selection rather than genetic drift. Comparison of the overall magnitude of quantitative trait to neutral marker divergence between the populations suggested selection had occurred but a direct test of quantitative trait divergence was not significant, preventing the rejection of the null hypothesis of differentiation through genetic drift. Estimates of phenotypic variation (VP ), additive genetic variation (VA ) and narrow-sense heritability (h (2)) were consistently higher in the Wisconsin relative to the Washington population. If selection had acted on the Wisconsin population there was no evidence of a concomitant loss of genetic variation in BKD susceptibility. The Renibacterium salmoninarum exposures were conducted at both 14°C and 9°C; the warmer temperature accelerated time to death in both populations and there was no evidence of phenotypic plasticity or a genotype-by-environment (G × E) interaction. High h (2) estimates for BKD susceptibility in the Wisconsin population, combined with a lack of phenotypic plasticity, predicts that future adaptive gains in BKD resistance are still possible and that these adaptive gains would be stable under the temperature range evaluated here.

  6. Genetic variation in bacterial kidney disease (BKD) susceptibility in Lake Michigan Chinook Salmon and its progenitor population from the Puget Sound

    USGS Publications Warehouse

    Purcell, Maureen K.; Hard, Jeffrey J.; Neely, Kathleen G.; Park, Linda K.; Winton, James R.; Elliott, Diane G.

    2014-01-01

    Mass mortality events in wild fish due to infectious diseases are troubling, especially given the potential for long-term, population-level consequences. Evolutionary theory predicts that populations with sufficient genetic variation will adapt in response to pathogen pressure. Chinook Salmon Oncorhynchus tshawytscha were introduced into Lake Michigan in the late 1960s from a Washington State hatchery population. In the late 1980s, collapse of the forage base and nutritional stress in Lake Michigan were thought to contribute to die-offs of Chinook Salmon due to bacterial kidney disease (BKD). Previously, we demonstrated that Lake Michigan Chinook Salmon from a Wisconsin hatchery have greater survival following BKD challenge relative to their progenitor population. Here, we evaluated whether the phenotypic divergence of these populations in BKD susceptibility was due to selection rather than genetic drift. Comparison of the overall magnitude of quantitative trait to neutral marker divergence between the populations suggested selection had occurred but a direct test of quantitative trait divergence was not significant, preventing the rejection of the null hypothesis of differentiation through genetic drift. Estimates of phenotypic variation (VP), additive genetic variation (VA) and narrow-sense heritability (h2) were consistently higher in the Wisconsin relative to the Washington population. If selection had acted on the Wisconsin population there was no evidence of a concomitant loss of genetic variation in BKD susceptibility. The Renibacterium salmoninarum exposures were conducted at both 14°C and 9°C; the warmer temperature accelerated time to death in both populations and there was no evidence of phenotypic plasticity or a genotype-by-environment (G × E) interaction. High h2 estimates for BKD susceptibility in the Wisconsin population, combined with a lack of phenotypic plasticity, predicts that future adaptive gains in BKD resistance are still possible and that these adaptive gains would be stable under the temperature range evaluated here.

  7. Aluminum tolerance in maize is associated with higher MATE1 gene copy number

    PubMed Central

    Maron, Lyza G.; Guimarães, Claudia T.; Kirst, Matias; Albert, Patrice S.; Birchler, James A.; Bradbury, Peter J.; Buckler, Edward S.; Coluccio, Alison E.; Danilova, Tatiana V.; Kudrna, David; Magalhaes, Jurandir V.; Piñeros, Miguel A.; Schatz, Michael C.; Wing, Rod A.; Kochian, Leon V.

    2013-01-01

    Genome structure variation, including copy number variation and presence/absence variation, comprises a large extent of maize genetic diversity; however, its effect on phenotypes remains largely unexplored. Here, we describe how copy number variation underlies a rare allele that contributes to maize aluminum (Al) tolerance. Al toxicity is the primary limitation for crop production on acid soils, which make up 50% of the world’s potentially arable lands. In a recombinant inbred line mapping population, copy number variation of the Al tolerance gene multidrug and toxic compound extrusion 1 (MATE1) is the basis for the quantitative trait locus of largest effect on phenotypic variation. This expansion in MATE1 copy number is associated with higher MATE1 expression, which in turn results in superior Al tolerance. The three MATE1 copies are identical and are part of a tandem triplication. Only three maize inbred lines carrying the three-copy allele were identified from maize and teosinte diversity panels, indicating that copy number variation for MATE1 is a rare, and quite likely recent, event. These maize lines with higher MATE1 copy number are also Al-tolerant, have high MATE1 expression, and originate from regions of highly acidic soils. Our findings show a role for copy number variation in the adaptation of maize to acidic soils in the tropics and suggest that genome structural changes may be a rapid evolutionary response to new environments. PMID:23479633

  8. Quantitative assessment on soil enzyme activities of heavy metal contaminated soils with various soil properties.

    PubMed

    Xian, Yu; Wang, Meie; Chen, Weiping

    2015-11-01

    Soil enzyme activities are greatly influenced by soil properties and could be significant indicators of heavy metal toxicity in soil for bioavailability assessment. Two groups of experiments were conducted to determine the joint effects of heavy metals and soil properties on soil enzyme activities. Results showed that arylsulfatase was the most sensitive soil enzyme and could be used as an indicator to study the enzymatic toxicity of heavy metals under various soil properties. Soil organic matter (SOM) was the dominant factor affecting the activity of arylsulfatase in soil. A quantitative model was derived to predict the changes of arylsulfatase activity with SOM content. When the soil organic matter content was less than the critical point A (1.05% in our study), the arylsulfatase activity dropped rapidly. When the soil organic matter content was greater than the critical point A, the arylsulfatase activity gradually rose to higher levels showing that instead of harm the soil microbial activities were enhanced. The SOM content needs to be over the critical point B (2.42% in our study) to protect its microbial community from harm due to the severe Pb pollution (500mgkg(-1) in our study). The quantitative model revealed the pattern of variation of enzymatic toxicity due to heavy metals under various SOM contents. The applicability of the model under wider soil properties need to be tested. The model however may provide a methodological basis for ecological risk assessment of heavy metals in soil. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. Identification of Quantitative Trait Loci Controlling Gene Expression during the Innate Immunity Response of Soybean1[W][OA

    PubMed Central

    Valdés-López, Oswaldo; Thibivilliers, Sandra; Qiu, Jing; Xu, Wayne Wenzhong; Nguyen, Tran H.N.; Libault, Marc; Le, Brandon H.; Goldberg, Robert B.; Hill, Curtis B.; Hartman, Glen L.; Diers, Brian; Stacey, Gary

    2011-01-01

    Microbe-associated molecular pattern-triggered immunity (MTI) is an important component of the plant innate immunity response to invading pathogens. However, most of our knowledge of MTI comes from studies of model systems with relatively little work done with crop plants. In this work, we report on variation in both the microbe-associated molecular pattern-triggered oxidative burst and gene expression across four soybean (Glycine max) genotypes. Variation in MTI correlated with the level of pathogen resistance for each genotype. A quantitative trait locus analysis on these traits identified four loci that appeared to regulate gene expression during MTI in soybean. Likewise, we observed that both MTI variation and pathogen resistance were quantitatively inherited. The approach utilized in this study may have utility for identifying key resistance loci useful for developing improved soybean cultivars. PMID:21963820

  10. Evolutionary Quantitative Genomics of Populus trichocarpa

    PubMed Central

    McKown, Athena D.; La Mantia, Jonathan; Guy, Robert D.; Ingvarsson, Pär K.; Hamelin, Richard; Mansfield, Shawn D.; Ehlting, Jürgen; Douglas, Carl J.; El-Kassaby, Yousry A.

    2015-01-01

    Forest trees generally show high levels of local adaptation and efforts focusing on understanding adaptation to climate will be crucial for species survival and management. Here, we address fundamental questions regarding the molecular basis of adaptation in undomesticated forest tree populations to past climatic environments by employing an integrative quantitative genetics and landscape genomics approach. Using this comprehensive approach, we studied the molecular basis of climate adaptation in 433 Populus trichocarpa (black cottonwood) genotypes originating across western North America. Variation in 74 field-assessed traits (growth, ecophysiology, phenology, leaf stomata, wood, and disease resistance) was investigated for signatures of selection (comparing Q ST -F ST) using clustering of individuals by climate of origin (temperature and precipitation). 29,354 SNPs were investigated employing three different outlier detection methods and marker-inferred relatedness was estimated to obtain the narrow-sense estimate of population differentiation in wild populations. In addition, we compared our results with previously assessed selection of candidate SNPs using the 25 topographical units (drainages) across the P. trichocarpa sampling range as population groupings. Narrow-sense Q ST for 53% of distinct field traits was significantly divergent from expectations of neutrality (indicating adaptive trait variation); 2,855 SNPs showed signals of diversifying selection and of these, 118 SNPs (within 81 genes) were associated with adaptive traits (based on significant Q ST). Many SNPs were putatively pleiotropic for functionally uncorrelated adaptive traits, such as autumn phenology, height, and disease resistance. Evolutionary quantitative genomics in P. trichocarpa provides an enhanced understanding regarding the molecular basis of climate-driven selection in forest trees and we highlight that important loci underlying adaptive trait variation also show relationship to climate of origin. We consider our approach the most comprehensive, as it uncovers the molecular mechanisms of adaptation using multiple methods and tests. We also provide a detailed outline of the required analyses for studying adaptation to the environment in a population genomics context to better understand the species’ potential adaptive capacity to future climatic scenarios. PMID:26599762

  11. A Novel Pulse-Chase SILAC Strategy Measures Changes in Protein Decay and Synthesis Rates Induced by Perturbation of Proteostasis with an Hsp90 Inhibitor

    PubMed Central

    Fierro-Monti, Ivo; Racle, Julien; Hernandez, Celine; Waridel, Patrice; Hatzimanikatis, Vassily; Quadroni, Manfredo

    2013-01-01

    Standard proteomics methods allow the relative quantitation of levels of thousands of proteins in two or more samples. While such methods are invaluable for defining the variations in protein concentrations which follow the perturbation of a biological system, they do not offer information on the mechanisms underlying such changes. Expanding on previous work [1], we developed a pulse-chase (pc) variant of SILAC (stable isotope labeling by amino acids in cell culture). pcSILAC can quantitate in one experiment and for two conditions the relative levels of proteins newly synthesized in a given time as well as the relative levels of remaining preexisting proteins. We validated the method studying the drug-mediated inhibition of the Hsp90 molecular chaperone, which is known to lead to increased synthesis of stress response proteins as well as the increased decay of Hsp90 “clients”. We showed that pcSILAC can give information on changes in global cellular proteostasis induced by treatment with the inhibitor, which are normally not captured by standard relative quantitation techniques. Furthermore, we have developed a mathematical model and computational framework that uses pcSILAC data to determine degradation constants kd and synthesis rates Vs for proteins in both control and drug-treated cells. The results show that Hsp90 inhibition induced a generalized slowdown of protein synthesis and an increase in protein decay. Treatment with the inhibitor also resulted in widespread protein-specific changes in relative synthesis rates, together with variations in protein decay rates. The latter were more restricted to individual proteins or protein families than the variations in synthesis. Our results establish pcSILAC as a viable workflow for the mechanistic dissection of changes in the proteome which follow perturbations. Data are available via ProteomeXchange with identifier PXD000538. PMID:24312217

  12. A simple quantitative approach for the determination of long and medium chain lipids in bio-relevant matrices by high performance liquid chromatography with refractive index detection.

    PubMed

    Lee, Kathy Wai Yu; Porter, Christopher J H; Boyd, Ben J

    2013-09-01

    There is increasing attention in the literature towards understanding the behaviour of lipid-based drug formulations under digestion conditions using in vitro and in vivo methods. This necessitates a convenient method for quantitation of lipids and lipid digestion products. In this study, a simple and accessible method for the separation and quantitative determination of typical formulation and digested lipids using high performance liquid chromatography coupled to refractive index detection (HPLC-RI) is described. Long and medium chain lipids were separated and quantified in a biological matrix (gastrointestinal content) without derivatisation using HPLC-RI on C18 and C8 columns, respectively. The intra- and inter-assay accuracy was between 92% and 106%, and the assays were precise to within a coefficient of variation of less than 10% over the range of 0.1-2 mg/mL for both long and medium chain lipids. This method is also shown to be suitable for quantifying the lipolysis products collected from the gastrointestinal tract in the course of in vivo lipid digestion studies.

  13. Mapping quantitative trait loci controlling milk production in dairy cattle by exploiting progeny testing

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

    Georges, M.; Nielsen, D.; Mackinnon, M.

    1995-02-01

    We have exploited {open_quotes}progeny testing{close_quotes} to map quantitative trait loci (QTL) underlying the genetic variation of milk production in a selected dairy cattle population. A total of 1,518 sires, with progeny tests based on the milking performances of >150,000 daughters jointly, was genotyped for 159 autosomal microsatellites bracketing 1645 centimorgan or approximately two thirds of the bovine genome. Using a maximum likelihood multilocus linkage analysis accounting for variance heterogeneity of the phenotypes, we identified five chromosomes giving very strong evidence (LOD score {ge} 3) for the presence of a QTL controlling milk production: chromosomes 1, 6, 9, 10 and 20.more » These findings demonstrate that loci with considerable effects on milk production are still segregating in highly selected populations and pave the way toward marker-assisted selection in dairy cattle breeding. 44 refs., 4 figs., 3 tabs.« less

  14. Quantitative recurrence for free semigroup actions

    NASA Astrophysics Data System (ADS)

    Carvalho, Maria; Rodrigues, Fagner B.; Varandas, Paulo

    2018-03-01

    We consider finitely generated free semigroup actions on a compact metric space and obtain quantitative information on Poincaré recurrence, average first return time and hitting frequency for the random orbits induced by the semigroup action. Besides, we relate the recurrence to balls with the rates of expansion of the semigroup generators and the topological entropy of the semigroup action. Finally, we establish a partial variational principle and prove an ergodic optimization for this kind of dynamical action. MC has been financially supported by CMUP (UID/MAT/00144/2013), which is funded by FCT (Portugal) with national (MEC) and European structural funds (FEDER) under the partnership agreement PT2020. FR and PV were partially supported by BREUDS. PV has also benefited from a fellowship awarded by CNPq-Brazil and is grateful to the Faculty of Sciences of the University of Porto for the excellent research conditions.

  15. High temperatures reveal cryptic genetic variation in a polymorphic female sperm storage organ.

    PubMed

    Berger, David; Bauerfeind, Stephanie Sandra; Blanckenhorn, Wolf Ulrich; Schäfer, Martin Andreas

    2011-10-01

    Variation in female reproductive morphology may play a decisive role in reproductive isolation by affecting the relative fertilization success of alternative male phenotypes. Yet, knowledge of how environmental variation may influence the development of the female reproductive tract and thus alter the arena of postcopulatory sexual selection is limited. Yellow dung fly females possess either three or four sperm storage compartments, a polymorphism with documented influence on sperm precedence. We performed a quantitative genetics study including 12 populations reared at three developmental temperatures complemented by extensive field data to show that warm developmental temperatures increase the frequency of females with four compartments, revealing striking hidden genetic variation for the polymorphism. Systematic genetic differentiation in growth rate and spermathecal number along latitude, and phenotypic covariance between the traits across temperature treatments suggest that the genetic architecture underlying the polymorphism is shaped by selection on metabolic rate. Our findings illustrate how temperature can modulate the preconditions for sexual selection by differentially exposing novel variation in reproductive morphology. This implies that environmental change may substantially alter the dynamics of sexual selection. We further discuss how temperature-dependent developmental plasticity may have contributed to observed rapid evolutionary transitions in spermathecal morphology. © 2011 The Author(s). Evolution© 2011 The Society for the Study of Evolution.

  16. Screening of reproduction-related single-nucleotide variations from MeDIP-seq data in sheep.

    PubMed

    Cao, Jiaxue; Wei, Caihong; Zhang, Shuzhen; Capellini, Terence D; Zhang, Li; Zhao, Fuping; Li, Li; Zhong, Tao; Wang, Linjie; Du, Lixin; Zhang, Hongping

    2016-11-01

    Extensive variation in reproduction has arisen in Chinese Mongolian sheep during recent domestication. Hu and Small-tailed Han sheep, for example, have become non-seasonal breeders and exhibit higher fecundity than Tan and Ujumqin breeds. We therefore scanned reproduction-related single-nucleotide variations from methylated DNA-immunoprecipitation sequencing data generated from each of those four breeds to uncover potential mechanisms underlying this breed variation. We generated a high-quality map of single nucleotide variations (SNVs) in DNA methylation enriched regions, and found that the majority of variants are located within non-coding regions. We identified 359 SNVs within the Sheep Quantitative Trait Locus (QTL) database. Nineteen of these SNVs associated with the Aseasonal Reproduction QTL, and 10 out of the 19 reside close to genes with known reproduction functions. We also identified the well-known FecB mutation in high-fecundity sheep (Hu and Small-tailed Han sheep). When we applied these FecB finding to our breeding system, we improved lambing rate by 175%. In summary, this study provided strong candidate SNVs associated with sheep fecundity that can serve as targets for functional testing and to enhance selective breeding strategies. Mol. Reprod. Dev. 83: 958-967, 2016 © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  17. Spatial-Temporal Variations of Chlorophyll-a in the Adjacent Sea Area of the Yangtze River Estuary Influenced by Yangtze River Discharge.

    PubMed

    Wang, Ying; Jiang, Hong; Jin, Jiaxin; Zhang, Xiuying; Lu, Xuehe; Wang, Yueqi

    2015-05-20

    Carrying abundant nutrition, terrigenous freshwater has a great impact on the spatial and temporal heterogeneity of phytoplankton in coastal waters. The present study analyzed the spatial-temporal variations of Chlorophyll-a (Chl-a) concentration under the influence of discharge from the Yangtze River, based on remotely sensed Chl-a concentrations. The study area was initially zoned to quantitatively investigate the spatial variation patterns of Chl-a. Then, the temporal variation of Chl-a in each zone was simulated by a sinusoidal curve model. The results showed that in the inshore waters, the terrigenous discharge was the predominant driving force determining the pattern of Chl-a, which brings the risk of red tide disasters; while in the open sea areas, Chl-a was mainly affected by meteorological factors. Furthermore, a diversity of spatial and temporal variations of Chl-a existed based on the degree of influences from discharge. The diluted water extended from inshore to the east of Jeju Island. This process affected the Chl-a concentration flowing through the area, and had a potential impact on the marine environment. The Chl-a from September to November showed an obvious response to the discharge from July to September with a lag of 1 to 2 months.

  18. Spatial-Temporal Variations of Chlorophyll-a in the Adjacent Sea Area of the Yangtze River Estuary Influenced by Yangtze River Discharge

    PubMed Central

    Wang, Ying; Jiang, Hong; Jin, Jiaxin; Zhang, Xiuying; Lu, Xuehe; Wang, Yueqi

    2015-01-01

    Carrying abundant nutrition, terrigenous freshwater has a great impact on the spatial and temporal heterogeneity of phytoplankton in coastal waters. The present study analyzed the spatial-temporal variations of Chlorophyll-a (Chl-a) concentration under the influence of discharge from the Yangtze River, based on remotely sensed Chl-a concentrations. The study area was initially zoned to quantitatively investigate the spatial variation patterns of Chl-a. Then, the temporal variation of Chl-a in each zone was simulated by a sinusoidal curve model. The results showed that in the inshore waters, the terrigenous discharge was the predominant driving force determining the pattern of Chl-a, which brings the risk of red tide disasters; while in the open sea areas, Chl-a was mainly affected by meteorological factors. Furthermore, a diversity of spatial and temporal variations of Chl-a existed based on the degree of influences from discharge. The diluted water extended from inshore to the east of Jeju Island. This process affected the Chl-a concentration flowing through the area, and had a potential impact on the marine environment. The Chl-a from September to November showed an obvious response to the discharge from July to September with a lag of 1 to 2 months. PMID:26006121

  19. The Relationship between Quantitative and Qualitative Measures of Writing Skills.

    ERIC Educational Resources Information Center

    Howerton, Mary Lou P.; And Others

    The relationships of quantitative measures of writing skills to overall writing quality as measured by the E.T.S. Composition Evaluation Scale (CES) were examined. Quantitative measures included indices of language productivity, vocabulary diversity, spelling, and syntactic maturity. Power of specific indices to account for variation in overall…

  20. 21 CFR 207.25 - Information required in registration and drug listing.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...-2657 or in conjunction with the FDA voluntary inventory on Form FDA-2422 (Survey Report of Marketed... blood bank, a quantitative listing of the active ingredient(s). Unless the quantitative listing is...)(iii), the registrant may limit the quantitative listing of ingredients to each variation of level of...

  1. 21 CFR 207.25 - Information required in registration and drug listing.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ...-2657 or in conjunction with the FDA voluntary inventory on Form FDA-2422 (Survey Report of Marketed... blood bank, a quantitative listing of the active ingredient(s). Unless the quantitative listing is...)(iii), the registrant may limit the quantitative listing of ingredients to each variation of level of...

  2. 21 CFR 207.25 - Information required in registration and drug listing.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ...-2657 or in conjunction with the FDA voluntary inventory on Form FDA-2422 (Survey Report of Marketed... blood bank, a quantitative listing of the active ingredient(s). Unless the quantitative listing is...)(iii), the registrant may limit the quantitative listing of ingredients to each variation of level of...

  3. 21 CFR 207.25 - Information required in registration and drug listing.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ...-2657 or in conjunction with the FDA voluntary inventory on Form FDA-2422 (Survey Report of Marketed... blood bank, a quantitative listing of the active ingredient(s). Unless the quantitative listing is...)(iii), the registrant may limit the quantitative listing of ingredients to each variation of level of...

  4. 21 CFR 207.25 - Information required in registration and drug listing.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ...-2657 or in conjunction with the FDA voluntary inventory on Form FDA-2422 (Survey Report of Marketed... blood bank, a quantitative listing of the active ingredient(s). Unless the quantitative listing is...)(iii), the registrant may limit the quantitative listing of ingredients to each variation of level of...

  5. Congruent climate-related genecological responses from molecular markers and quantitative traits for western white pine (Pinus monticola)

    Treesearch

    Bryce A. Richardson; Gerald E. Rehfeldt; Mee-Sook Kim

    2009-01-01

    Analyses of molecular and quantitative genetic data demonstrate the existence of congruent climate-related patterns in western white pine (Pinus monticola). Two independent studies allowed comparisons of amplified fragment length polymorphism (AFLP) markers with quantitative variation in adaptive traits. Principal component analyses...

  6. Mathematics Competency for Beginning Chemistry Students Through Dimensional Analysis.

    PubMed

    Pursell, David P; Forlemu, Neville Y; Anagho, Leonard E

    2017-01-01

    Mathematics competency in nursing education and practice may be addressed by an instructional variation of the traditional dimensional analysis technique typically presented in beginning chemistry courses. The authors studied 73 beginning chemistry students using the typical dimensional analysis technique and the variation technique. Student quantitative problem-solving performance was evaluated. Students using the variation technique scored significantly better (18.3 of 20 points, p < .0001) on the final examination quantitative titration problem than those who used the typical technique (10.9 of 20 points). American Chemical Society examination scores and in-house assessment indicate that better performing beginning chemistry students were more likely to use the variation technique rather than the typical technique. The variation technique may be useful as an alternative instructional approach to enhance beginning chemistry students' mathematics competency and problem-solving ability in both education and practice. [J Nurs Educ. 2017;56(1):22-26.]. Copyright 2017, SLACK Incorporated.

  7. Atlas warping for brain morphometry

    NASA Astrophysics Data System (ADS)

    Machado, Alexei M. C.; Gee, James C.

    1998-06-01

    In this work, we describe an automated approach to morphometry based on spatial normalizations of the data, and demonstrate its application to the analysis of gender differences in the human corpus callosum. The purpose is to describe a population by a reduced and representative set of variables, from which a prior model can be constructed. Our approach is rooted in the assumption that individual anatomies can be considered as quantitative variations on a common underlying qualitative plane. We can therefore imagine that a given individual's anatomy is a warped version of some referential anatomy, also known as an atlas. The spatial warps which transform a labeled atlas into anatomic alignment with a population yield immediate knowledge about organ size and shape in the group. Furthermore, variation within the set of spatial warps is directly related to the anatomic variation among the subjects. Specifically, the shape statistics--mean and variance of the mappings--for the population can be calculated in a special basis, and an eigendecomposition of the variance performed to identify the most significant modes of shape variation. The results obtained with the corpus callosum study confirm the existence of substantial anatomical differences between males and females, as reported in previous experimental work.

  8. In-focal-plane characterization of excitation distribution for quantitative fluorescence microscopy applications

    NASA Astrophysics Data System (ADS)

    Dietrich, Klaus; Brülisauer, Martina; ćaǧin, Emine; Bertsch, Dietmar; Lüthi, Stefan; Heeb, Peter; Stärker, Ulrich; Bernard, André

    2017-06-01

    The applications of fluorescence microscopy span medical diagnostics, bioengineering and biomaterial analytics. Full exploitation of fluorescent microscopy is hampered by imperfections in illumination, detection and filtering. Mainly, errors stem from deviations induced by real-world components inducing spatial or angular variations of propagation properties along the optical path, and they can be addressed through consistent and accurate calibration. For many applications, uniform signal to noise ratio (SNR) over the imaging area is required. Homogeneous SNR can be achieved by quantifying and compensating for the signal bias. We present a method to quantitatively characterize novel reference materials as a calibration reference for biomaterials analytics. The reference materials under investigation comprise thin layers of fluorophores embedded in polymer matrices. These layers are highly homogeneous in their fluorescence response, where cumulative variations do not exceed 1% over the field of view (1.5 x 1.1 mm). An automated and reproducible measurement methodology, enabling sufficient correction for measurement artefacts, is reported. The measurement setup is equipped with an autofocus system, ensuring that the measured film quality is not artificially increased by out-of-focus reduction of the system modulation transfer function. The quantitative characterization method is suitable for analysis of modified bio-materials, especially through patterned protein decoration. The imaging method presented here can be used to statistically analyze protein patterns, thereby increasing both precision and throughput. Further, the method can be developed to include a reference emitter and detector pair on the image surface of the reference object, in order to provide traceable measurements.

  9. Genomic Correlates of Relationship QTL Involved in Fore- versus Hind Limb Divergence in Mice

    PubMed Central

    Pavlicev, Mihaela; Wagner, Günter P.; Noonan, James P.; Hallgrímsson, Benedikt; Cheverud, James M.

    2013-01-01

    Divergence of serially homologous elements of organisms is a common evolutionary pattern contributing to increased phenotypic complexity. Here, we study the genomic intervals affecting the variational independence of fore- and hind limb traits within an experimental mouse population. We use an advanced intercross of inbred mouse strains to map the loci associated with the degree of autonomy between fore- and hind limb long bone lengths (loci affecting the relationship between traits, relationship quantitative trait loci [rQTL]). These loci have been proposed to interact locally with the products of pleiotropic genes, thereby freeing the local trait from the variational constraint due to pleiotropic mutations. Using the known polymorphisms (single nucleotide polymorphisms [SNPs]) between the parental strains, we characterized and compared the genomic regions in which the rQTL, as well as their interaction partners (intQTL), reside. We find that these two classes of QTL intervals harbor different kinds of molecular variation. SNPs in rQTL intervals more frequently reside in limb-specific cis-regulatory regions than SNPs in intQTL intervals. The intQTL loci modified by the rQTL, in contrast, show the signature of protein-coding variation. This result is consistent with the widely accepted view that protein-coding mutations have broader pleiotropic effects than cis-regulatory polymorphisms. For both types of QTL intervals, the underlying candidate genes are enriched for genes involved in protein binding. This finding suggests that rQTL effects are caused by local interactions among the products of the causal genes harbored in rQTL and intQTL intervals. This is the first study to systematically document the population-level molecular variation underlying the evolution of character individuation. PMID:24065733

  10. Effects of Convective Transport of Solute and Impurities on Defect-Causing Kinetics Instabilities in Protein Crystallization

    NASA Technical Reports Server (NTRS)

    Vekilov, Peter G.

    2002-01-01

    The objective of the proposed research is to obtain further insight into the onset and development of the defect-causing instabilities that anise due to the coupling of the bulk transport and nonlinear-interfacial kinetics during growth in the mixed regime, utilizing the reduction of the convective contribution to the bulk transport under microgravity. These studies will build upon the data on the effects of quantitative variations of the forced convection velocity on the averaged and time-dependent kinetic behavior of protein crystal growth systems that have recently been obtained in our laboratory.

  11. Quantitative genetic insights into the coevolutionary dynamics of male and female genitalia

    PubMed Central

    Evans, Jonathan P.; van Lieshout, Emile; Gasparini, Clelia

    2013-01-01

    The spectacular variability that typically characterizes male genital traits has largely been attributed to the role of sexual selection. Among the evolutionary mechanisms proposed to account for this diversity, two processes in particular have generated considerable interest. On the one hand, females may exploit postcopulatory mechanisms of selection to favour males with preferred genital traits (cryptic female choice; CFC), while on the other hand females may evolve structures or behaviours that mitigate the direct costs imposed by male genitalia (sexual conflict; SC). A critical but rarely explored assumption underlying both processes is that male and female reproductive traits coevolve, either via the classic Fisherian model of preference-trait coevolution (CFC) or through sexually antagonistic selection (SC). Here, we provide evidence for this prediction in the guppy (Poecilia reticulata), a polyandrous livebearing fish in which males transfer sperm internally to females via consensual and forced matings. Our results from a paternal half-sibling breeding design reveal substantial levels of additive genetic variation underlying male genital size and morphology—two traits known to predict mating success during non-consensual matings. Our subsequent finding that physically interacting female genital traits exhibit corresponding levels of genetic (co)variation reveals the potential intersexual coevolutionary dynamics of male and female genitalia, thereby fulfilling a fundamental assumption underlying CFC and SC theory. PMID:23720546

  12. Influence of cardiac and respiratory motion on tomographic reconstructions of the heart: implications for quantitative nuclear cardiology

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

    Ter-Pogossian, M.M.; Bergmann, S.R.; Sobel, B.E.

    1982-12-01

    The potential influence of physiological, periodic motions of the heart due to the cardiac cycle, the respiratory cycle, or both on quantitative image reconstruction by positron emission tomography (PET) has been largely neglected. To define their quantitative impact, cardiac PET was performed in 6 dogs after injection of /sup 11/C-palmitate under disparate conditions including: normal cardiac and respiration cycles and cardiac arrest with and without respiration. Although in vitro assay of myocardial samples demonstrated that palmitate uptake was homogeneous (coefficient of variation . 10.1%), analysis of the reconstructed images demonstrated significant heterogeneity of apparent cardiac distribution of radioactivity due tomore » both intrinsic cardiac and respiratory motion. Image degradation due to respiratory motion was demonstrated in a healthy human volunteer as well, in whom cardiac tomography was performed with Super PETT I during breath-holding and during normal breathing. The results indicate that quantitatively significant degradation of reconstructions of true tracer distribution occurs in cardiac PET due to both intrinsic cardiac and respiratory induced motion of the heart. They suggest that avoidance of or minimization of these influences can be accomplished by gating with respect to both the cardiac cycle and respiration or by employing brief scan times during breath-holding.« less

  13. Simulating realistic predator signatures in quantitative fatty acid signature analysis

    USGS Publications Warehouse

    Bromaghin, Jeffrey F.

    2015-01-01

    Diet estimation is an important field within quantitative ecology, providing critical insights into many aspects of ecology and community dynamics. Quantitative fatty acid signature analysis (QFASA) is a prominent method of diet estimation, particularly for marine mammal and bird species. Investigators using QFASA commonly use computer simulation to evaluate statistical characteristics of diet estimators for the populations they study. Similar computer simulations have been used to explore and compare the performance of different variations of the original QFASA diet estimator. In both cases, computer simulations involve bootstrap sampling prey signature data to construct pseudo-predator signatures with known properties. However, bootstrap sample sizes have been selected arbitrarily and pseudo-predator signatures therefore may not have realistic properties. I develop an algorithm to objectively establish bootstrap sample sizes that generates pseudo-predator signatures with realistic properties, thereby enhancing the utility of computer simulation for assessing QFASA estimator performance. The algorithm also appears to be computationally efficient, resulting in bootstrap sample sizes that are smaller than those commonly used. I illustrate the algorithm with an example using data from Chukchi Sea polar bears (Ursus maritimus) and their marine mammal prey. The concepts underlying the approach may have value in other areas of quantitative ecology in which bootstrap samples are post-processed prior to their use.

  14. Extensions and evaluations of a general quantitative theory of forest structure and dynamics

    PubMed Central

    Enquist, Brian J.; West, Geoffrey B.; Brown, James H.

    2009-01-01

    Here, we present the second part of a quantitative theory for the structure and dynamics of forests under demographic and resource steady state. The theory is based on individual-level allometric scaling relations for how trees use resources, fill space, and grow. These scale up to determine emergent properties of diverse forests, including size–frequency distributions, spacing relations, canopy configurations, mortality rates, population dynamics, successional dynamics, and resource flux rates. The theory uniquely makes quantitative predictions for both stand-level scaling exponents and normalizations. We evaluate these predictions by compiling and analyzing macroecological datasets from several tropical forests. The close match between theoretical predictions and data suggests that forests are organized by a set of very general scaling rules. Our mechanistic theory is based on allometric scaling relations, is complementary to “demographic theory,” but is fundamentally different in approach. It provides a quantitative baseline for understanding deviations from predictions due to other factors, including disturbance, variation in branching architecture, asymmetric competition, resource limitation, and other sources of mortality, which are not included in the deliberately simplified theory. The theory should apply to a wide range of forests despite large differences in abiotic environment, species diversity, and taxonomic and functional composition. PMID:19363161

  15. Metabolome-genome-wide association study dissects genetic architecture for generating natural variation in rice secondary metabolism

    PubMed Central

    Matsuda, Fumio; Nakabayashi, Ryo; Yang, Zhigang; Okazaki, Yozo; Yonemaru, Jun-ichi; Ebana, Kaworu; Yano, Masahiro; Saito, Kazuki

    2015-01-01

    Plants produce structurally diverse secondary (specialized) metabolites to increase their fitness for survival under adverse environments. Several bioactive compounds for new drugs have been identified through screening of plant extracts. In this study, genome-wide association studies (GWAS) were conducted to investigate the genetic architecture behind the natural variation of rice secondary metabolites. GWAS using the metabolome data of 175 rice accessions successfully identified 323 associations among 143 single nucleotide polymorphisms (SNPs) and 89 metabolites. The data analysis highlighted that levels of many metabolites are tightly associated with a small number of strong quantitative trait loci (QTLs). The tight association may be a mechanism generating strains with distinct metabolic composition through the crossing of two different strains. The results indicate that one plant species produces more diverse phytochemicals than previously expected, and plants still contain many useful compounds for human applications. PMID:25267402

  16. A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence

    PubMed Central

    Spain, S L; Pedroso, I; Kadeva, N; Miller, M B; Iacono, W G; McGue, M; Stergiakouli, E; Smith, G D; Putallaz, M; Lubinski, D; Meaburn, E L; Plomin, R; Simpson, M A

    2016-01-01

    Although individual differences in intelligence (general cognitive ability) are highly heritable, molecular genetic analyses to date have had limited success in identifying specific loci responsible for its heritability. This study is the first to investigate exome variation in individuals of extremely high intelligence. Under the quantitative genetic model, sampling from the high extreme of the distribution should provide increased power to detect associations. We therefore performed a case–control association analysis with 1409 individuals drawn from the top 0.0003 (IQ >170) of the population distribution of intelligence and 3253 unselected population-based controls. Our analysis focused on putative functional exonic variants assayed on the Illumina HumanExome BeadChip. We did not observe any individual protein-altering variants that are reproducibly associated with extremely high intelligence and within the entire distribution of intelligence. Moreover, no significant associations were found for multiple rare alleles within individual genes. However, analyses using genome-wide similarity between unrelated individuals (genome-wide complex trait analysis) indicate that the genotyped functional protein-altering variation yields a heritability estimate of 17.4% (s.e. 1.7%) based on a liability model. In addition, investigation of nominally significant associations revealed fewer rare alleles associated with extremely high intelligence than would be expected under the null hypothesis. This observation is consistent with the hypothesis that rare functional alleles are more frequently detrimental than beneficial to intelligence. PMID:26239293

  17. A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence.

    PubMed

    Spain, S L; Pedroso, I; Kadeva, N; Miller, M B; Iacono, W G; McGue, M; Stergiakouli, E; Davey Smith, G; Putallaz, M; Lubinski, D; Meaburn, E L; Plomin, R; Simpson, M A

    2016-08-01

    Although individual differences in intelligence (general cognitive ability) are highly heritable, molecular genetic analyses to date have had limited success in identifying specific loci responsible for its heritability. This study is the first to investigate exome variation in individuals of extremely high intelligence. Under the quantitative genetic model, sampling from the high extreme of the distribution should provide increased power to detect associations. We therefore performed a case-control association analysis with 1409 individuals drawn from the top 0.0003 (IQ >170) of the population distribution of intelligence and 3253 unselected population-based controls. Our analysis focused on putative functional exonic variants assayed on the Illumina HumanExome BeadChip. We did not observe any individual protein-altering variants that are reproducibly associated with extremely high intelligence and within the entire distribution of intelligence. Moreover, no significant associations were found for multiple rare alleles within individual genes. However, analyses using genome-wide similarity between unrelated individuals (genome-wide complex trait analysis) indicate that the genotyped functional protein-altering variation yields a heritability estimate of 17.4% (s.e. 1.7%) based on a liability model. In addition, investigation of nominally significant associations revealed fewer rare alleles associated with extremely high intelligence than would be expected under the null hypothesis. This observation is consistent with the hypothesis that rare functional alleles are more frequently detrimental than beneficial to intelligence.

  18. Mechanism and Effect of Temperature on Variations in Antibiotic Resistance Genes during Anaerobic Digestion of Dairy Manure

    PubMed Central

    Sun, Wei; Qian, Xun; Gu, Jie; Wang, Xiao-Juan; Duan, Man-Li

    2016-01-01

    Animal manure comprises an important reservoir for antibiotic resistance genes (ARGs), but the variation in ARGs during anaerobic digestion at various temperatures and its underlying mechanism remain unclear. Thus, we performed anaerobic digestion using dairy manure at three temperature levels (moderate: 20 °C, mesophilic: 35 °C, and thermophilic: 55 °C), to analyze the dynamics of ARGs and bacterial communities by quantitative PCR and 16S rRNA gene sequencing. We found that 8/10 detected ARGs declined and 5/10 decreased more than 1.0 log during thermophilic digestion, whereas only four and five ARGs decreased during moderate and mesophilic digestion, respectively. The changes in ARGs and bacterial communities were similar under the moderate and mesophilic treatments, but distinct from those in the thermophilic system. Potential pathogens such as Bacteroidetes, Proteobacteria, and Corynebacterium were removed by thermophilic digestion but not by moderate and mesophilic digestion. The bacterial community succession was the dominant mechanism that influenced the variation in ARGs and integrons during anaerobic digestion. Thermophilic digestion decreased the amount of mesophilic bacteria (Bacteroidetes and Proteobacteria) carrying ARGs. Anaerobic digestion generally decreased the abundance of integrons by eliminating the aerobic hosts of integrons (Actinomycetales and Bacilli). Thermophilic anaerobic digestion is recommended for the treatment and reuse of animal manure. PMID:27444518

  19. A contemporary view of the ventricular gradient of Wilson.

    PubMed

    Plonsey, R

    1979-10-01

    We have derived quantitative expressions for QRS, T, and QRST areas of the scalar electrocardiogram. The QRST area, or ventricular gradient, is seen to be essentially independent of the activation sequence and to reflect recovery properties of the tissue as weighted by the vector lead field of a given lead. The results are derived for uniform isotropic conditions and under the assumption that the temporal waveforms everywhere are identical except for possible variations in the duration of the plateau. However, it is noted that the results are, probably, valid under anisotropic conditions as well. The examination of ventricular gradients from epicardial and intramural leads should reflect local recovery properties and be a useful tool in study of the physiology of recovery, as well as the study of arrhythmias.

  20. Investigation on Raman spectral features of a coated tablet under variation of its orientation respective to laser illumination and measurement of nominal coating thickness of packed tablets.

    PubMed

    Kim, Jaejin; Hwang, Jinyoung; Woo, Young-Ah; Chung, Hoeil

    2016-11-30

    To investigate Raman spectral features of a coated biconvex tablet under variation of its orientation respective to laser illumination, spectra of the tablet were collected by illuminating laser on 12 different locations on the tablet with 3 different illumination angles of 45, 75 and 90°. The spectral variations were more substantial when the tablet faces with engraved letters and greater surface curvature were measured, since the sampled volume of coating relative to that of a core tablet changed significantly under these circumstances as the illumination angle varied. The preliminary examination confirmed that the acquisition of tablet-representative spectra was the requisite for reliable measurement of coating thickness. Then, to mimic real monitoring of coating process, Raman spectra were directly collected on a packing of 30 tablets with repetition of random tablet packing up to 15 times and univariate models utilizing the intensity of coating peak at 638cm -1 were developed using the cumulatively averaged spectra with an average weight of the 30 tablets as a reference. To acquire less tablet orientation-sensitive spectra, a wide area illumination (WAI) scheme providing a large sampling area (28.3mm 2 ) on a tablet with a long focal length (∼25cm) was employed. The averaging of the first to seventh spectra, equivalently utilizing more packing-representative spectra for quantitative analysis, made the measurement of nominal coating thickness of packed tablets accurate. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. Genomic approaches for the elucidation of genes and gene networks underlying cardiovascular traits.

    PubMed

    Adriaens, M E; Bezzina, C R

    2018-06-22

    Genome-wide association studies have shed light on the association between natural genetic variation and cardiovascular traits. However, linking a cardiovascular trait associated locus to a candidate gene or set of candidate genes for prioritization for follow-up mechanistic studies is all but straightforward. Genomic technologies based on next-generation sequencing technology nowadays offer multiple opportunities to dissect gene regulatory networks underlying genetic cardiovascular trait associations, thereby aiding in the identification of candidate genes at unprecedented scale. RNA sequencing in particular becomes a powerful tool when combined with genotyping to identify loci that modulate transcript abundance, known as expression quantitative trait loci (eQTL), or loci modulating transcript splicing known as splicing quantitative trait loci (sQTL). Additionally, the allele-specific resolution of RNA-sequencing technology enables estimation of allelic imbalance, a state where the two alleles of a gene are expressed at a ratio differing from the expected 1:1 ratio. When multiple high-throughput approaches are combined with deep phenotyping in a single study, a comprehensive elucidation of the relationship between genotype and phenotype comes into view, an approach known as systems genetics. In this review, we cover key applications of systems genetics in the broad cardiovascular field.

  2. Population-Based Resequencing of Experimentally Evolved Populations Reveals the Genetic Basis of Body Size Variation in Drosophila melanogaster

    PubMed Central

    Turner, Thomas L.; Stewart, Andrew D.; Fields, Andrew T.; Rice, William R.; Tarone, Aaron M.

    2011-01-01

    Body size is a classic quantitative trait with evolutionarily significant variation within many species. Locating the alleles responsible for this variation would help understand the maintenance of variation in body size in particular, as well as quantitative traits in general. However, successful genome-wide association of genotype and phenotype may require very large sample sizes if alleles have low population frequencies or modest effects. As a complementary approach, we propose that population-based resequencing of experimentally evolved populations allows for considerable power to map functional variation. Here, we use this technique to investigate the genetic basis of natural variation in body size in Drosophila melanogaster. Significant differentiation of hundreds of loci in replicate selection populations supports the hypothesis that the genetic basis of body size variation is very polygenic in D. melanogaster. Significantly differentiated variants are limited to single genes at some loci, allowing precise hypotheses to be formed regarding causal polymorphisms, while other significant regions are large and contain many genes. By using significantly associated polymorphisms as a priori candidates in follow-up studies, these data are expected to provide considerable power to determine the genetic basis of natural variation in body size. PMID:21437274

  3. Quantitative Trait Loci Differentiating the Outbreeding Mimulus Guttatus from the Inbreeding M. Platycalyx

    PubMed Central

    Lin, J. Z.; Ritland, K.

    1997-01-01

    Theoretical predictions about the evolution of selfing depend on the genetic architecture of loci controlling selfing (monogenic vs. polygenic determination, large vs. small effect of alleles, dominance vs. recessiveness), and studies of such architecture are lacking. We inferred the genetic basis of mating system differences between the outbreeding Mimulus guttatus and the inbreeding M. platycalyx by quantitative trait locus (QTL) mapping using random amplified polymorphic DNA and isozyme markers. One to three QTL were detected for each of five mating system characters, and each QTL explained 7.6-28.6% of the phenotypic variance. Taken together, QTL accounted for up to 38% of the variation in mating system characters, and a large proportion of variation was unaccounted for. Inferred QTL often affected more than one trait, contributing to the genetic correlation between those traits. These results are consistent with the hypothesis that quantitative variation in plant mating system characters is primarily controlled by loci with small effect. PMID:9215912

  4. Replication of linkage to quantitative trait loci: variation in location and magnitude of the lod score.

    PubMed

    Hsueh, W C; Göring, H H; Blangero, J; Mitchell, B D

    2001-01-01

    Replication of linkage signals from independent samples is considered an important step toward verifying the significance of linkage signals in studies of complex traits. The purpose of this empirical investigation was to examine the variability in the precision of localizing a quantitative trait locus (QTL) by analyzing multiple replicates of a simulated data set with the use of variance components-based methods. Specifically, we evaluated across replicates the variation in both the magnitude and the location of the peak lod scores. We analyzed QTLs whose effects accounted for 10-37% of the phenotypic variance in the quantitative traits. Our analyses revealed that the precision of QTL localization was directly related to the magnitude of the QTL effect. For a QTL with effect accounting for > 20% of total phenotypic variation, > 90% of the linkage peaks fall within 10 cM from the true gene location. We found no evidence that, for a given magnitude of the lod score, the presence of interaction influenced the precision of QTL localization.

  5. Genome-Wide Association Study in Arabidopsis thaliana of Natural Variation in Seed Oil Melting Point: A Widespread Adaptive Trait in Plants.

    PubMed

    Branham, Sandra E; Wright, Sara J; Reba, Aaron; Morrison, Ginnie D; Linder, C Randal

    2016-05-01

    Seed oil melting point is an adaptive, quantitative trait determined by the relative proportions of the fatty acids that compose the oil. Micro- and macro-evolutionary evidence suggests selection has changed the melting point of seed oils to covary with germination temperatures because of a trade-off between total energy stores and the rate of energy acquisition during germination under competition. The seed oil compositions of 391 natural accessions of Arabidopsis thaliana, grown under common-garden conditions, were used to assess whether seed oil melting point within a species varied with germination temperature. In support of the adaptive explanation, long-term monthly spring and fall field temperatures of the accession collection sites significantly predicted their seed oil melting points. In addition, a genome-wide association study (GWAS) was performed to determine which genes were most likely responsible for the natural variation in seed oil melting point. The GWAS found a single highly significant association within the coding region of FAD2, which encodes a fatty acid desaturase central to the oil biosynthesis pathway. In a separate analysis of 15 a priori oil synthesis candidate genes, 2 (FAD2 and FATB) were located near significant SNPs associated with seed oil melting point. These results comport with others' molecular work showing that lines with alterations in these genes affect seed oil melting point as expected. Our results suggest natural selection has acted on a small number of loci to alter a quantitative trait in response to local environmental conditions. © The American Genetic Association. 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  6. Analysing and correcting the differences between multi-source and multi-scale spatial remote sensing observations.

    PubMed

    Dong, Yingying; Luo, Ruisen; Feng, Haikuan; Wang, Jihua; Zhao, Jinling; Zhu, Yining; Yang, Guijun

    2014-01-01

    Differences exist among analysis results of agriculture monitoring and crop production based on remote sensing observations, which are obtained at different spatial scales from multiple remote sensors in same time period, and processed by same algorithms, models or methods. These differences can be mainly quantitatively described from three aspects, i.e. multiple remote sensing observations, crop parameters estimation models, and spatial scale effects of surface parameters. Our research proposed a new method to analyse and correct the differences between multi-source and multi-scale spatial remote sensing surface reflectance datasets, aiming to provide references for further studies in agricultural application with multiple remotely sensed observations from different sources. The new method was constructed on the basis of physical and mathematical properties of multi-source and multi-scale reflectance datasets. Theories of statistics were involved to extract statistical characteristics of multiple surface reflectance datasets, and further quantitatively analyse spatial variations of these characteristics at multiple spatial scales. Then, taking the surface reflectance at small spatial scale as the baseline data, theories of Gaussian distribution were selected for multiple surface reflectance datasets correction based on the above obtained physical characteristics and mathematical distribution properties, and their spatial variations. This proposed method was verified by two sets of multiple satellite images, which were obtained in two experimental fields located in Inner Mongolia and Beijing, China with different degrees of homogeneity of underlying surfaces. Experimental results indicate that differences of surface reflectance datasets at multiple spatial scales could be effectively corrected over non-homogeneous underlying surfaces, which provide database for further multi-source and multi-scale crop growth monitoring and yield prediction, and their corresponding consistency analysis evaluation.

  7. Analysing and Correcting the Differences between Multi-Source and Multi-Scale Spatial Remote Sensing Observations

    PubMed Central

    Dong, Yingying; Luo, Ruisen; Feng, Haikuan; Wang, Jihua; Zhao, Jinling; Zhu, Yining; Yang, Guijun

    2014-01-01

    Differences exist among analysis results of agriculture monitoring and crop production based on remote sensing observations, which are obtained at different spatial scales from multiple remote sensors in same time period, and processed by same algorithms, models or methods. These differences can be mainly quantitatively described from three aspects, i.e. multiple remote sensing observations, crop parameters estimation models, and spatial scale effects of surface parameters. Our research proposed a new method to analyse and correct the differences between multi-source and multi-scale spatial remote sensing surface reflectance datasets, aiming to provide references for further studies in agricultural application with multiple remotely sensed observations from different sources. The new method was constructed on the basis of physical and mathematical properties of multi-source and multi-scale reflectance datasets. Theories of statistics were involved to extract statistical characteristics of multiple surface reflectance datasets, and further quantitatively analyse spatial variations of these characteristics at multiple spatial scales. Then, taking the surface reflectance at small spatial scale as the baseline data, theories of Gaussian distribution were selected for multiple surface reflectance datasets correction based on the above obtained physical characteristics and mathematical distribution properties, and their spatial variations. This proposed method was verified by two sets of multiple satellite images, which were obtained in two experimental fields located in Inner Mongolia and Beijing, China with different degrees of homogeneity of underlying surfaces. Experimental results indicate that differences of surface reflectance datasets at multiple spatial scales could be effectively corrected over non-homogeneous underlying surfaces, which provide database for further multi-source and multi-scale crop growth monitoring and yield prediction, and their corresponding consistency analysis evaluation. PMID:25405760

  8. A novel statistical method for quantitative comparison of multiple ChIP-seq datasets.

    PubMed

    Chen, Li; Wang, Chi; Qin, Zhaohui S; Wu, Hao

    2015-06-15

    ChIP-seq is a powerful technology to measure the protein binding or histone modification strength in the whole genome scale. Although there are a number of methods available for single ChIP-seq data analysis (e.g. 'peak detection'), rigorous statistical method for quantitative comparison of multiple ChIP-seq datasets with the considerations of data from control experiment, signal to noise ratios, biological variations and multiple-factor experimental designs is under-developed. In this work, we develop a statistical method to perform quantitative comparison of multiple ChIP-seq datasets and detect genomic regions showing differential protein binding or histone modification. We first detect peaks from all datasets and then union them to form a single set of candidate regions. The read counts from IP experiment at the candidate regions are assumed to follow Poisson distribution. The underlying Poisson rates are modeled as an experiment-specific function of artifacts and biological signals. We then obtain the estimated biological signals and compare them through the hypothesis testing procedure in a linear model framework. Simulations and real data analyses demonstrate that the proposed method provides more accurate and robust results compared with existing ones. An R software package ChIPComp is freely available at http://web1.sph.emory.edu/users/hwu30/software/ChIPComp.html. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  9. A clustering approach to segmenting users of internet-based risk calculators.

    PubMed

    Harle, C A; Downs, J S; Padman, R

    2011-01-01

    Risk calculators are widely available Internet applications that deliver quantitative health risk estimates to consumers. Although these tools are known to have varying effects on risk perceptions, little is known about who will be more likely to accept objective risk estimates. To identify clusters of online health consumers that help explain variation in individual improvement in risk perceptions from web-based quantitative disease risk information. A secondary analysis was performed on data collected in a field experiment that measured people's pre-diabetes risk perceptions before and after visiting a realistic health promotion website that provided quantitative risk information. K-means clustering was performed on numerous candidate variable sets, and the different segmentations were evaluated based on between-cluster variation in risk perception improvement. Variation in responses to risk information was best explained by clustering on pre-intervention absolute pre-diabetes risk perceptions and an objective estimate of personal risk. Members of a high-risk overestimater cluster showed large improvements in their risk perceptions, but clusters of both moderate-risk and high-risk underestimaters were much more muted in improving their optimistically biased perceptions. Cluster analysis provided a unique approach for segmenting health consumers and predicting their acceptance of quantitative disease risk information. These clusters suggest that health consumers were very responsive to good news, but tended not to incorporate bad news into their self-perceptions much. These findings help to quantify variation among online health consumers and may inform the targeted marketing of and improvements to risk communication tools on the Internet.

  10. Assessing future changes in the occurrence of rainfall-induced landslides at a regional scale.

    PubMed

    Gariano, S L; Rianna, G; Petrucci, O; Guzzetti, F

    2017-10-15

    According to the fifth report of the Intergovernmental Panel on Climate Change, an increase in the frequency and the intensity of extreme rainfall is expected in the Mediterranean area. Among different impacts, this increase might result in a variation in the frequency and the spatial distribution of rainfall-induced landslides, and in an increase in the size of the population exposed to landslide risk. We propose a method for the regional-scale evaluation of future variations in the occurrence of rainfall-induced landslides, in response to changes in rainfall regimes. We exploit information on the occurrence of 603 rainfall-induced landslides in Calabria, southern Italy, in the period 1981-2010, and daily rainfall data recorded in the same period in the region. Furthermore, we use high-resolution climate projections based on RCP4.5 and RCP8.5 scenarios. In particular, we consider the mean variations between a 30-year future period (2036-2065) and the reference period 1981-2010 in three variables assumed as proxy for landslide activity: annual rainfall, seasonal cumulated rainfall, and annual maxima of daily rainfall. Based on reliable correlations between landslide occurrence and weather variables estimated in the reference period, we assess future variations in rainfall-induced landslide occurrence for all the municipalities of Calabria. A +45.7% and +21.2% average regional variation in rainfall-induced landslide occurrence is expected in the region for the period 2036-2065, under the RCP4.5 and RCP8.5 scenario, respectively. We also investigate the future variations in the impact of rainfall-induced landslides on the population of Calabria. We find a +80.2% and +54.5% increase in the impact on the population for the period 2036-2065, under the RCP4.5 and RCP8.5 scenario, respectively. The proposed method is quantitative and reproducible, thus it can be applied in similar regions, where adequate landslide and rainfall information is available. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Simulated linear test applied to quantitative proteomics.

    PubMed

    Pham, T V; Jimenez, C R

    2016-09-01

    Omics studies aim to find significant changes due to biological or functional perturbation. However, gene and protein expression profiling experiments contain inherent technical variation. In discovery proteomics studies where the number of samples is typically small, technical variation plays an important role because it contributes considerably to the observed variation. Previous methods place both technical and biological variations in tightly integrated mathematical models that are difficult to adapt for different technological platforms. Our aim is to derive a statistical framework that allows the inclusion of a wide range of technical variability. We introduce a new method called the simulated linear test, or the s-test, that is easy to implement and easy to adapt for different models of technical variation. It generates virtual data points from the observed values according to a pre-defined technical distribution and subsequently employs linear modeling for significance analysis. We demonstrate the flexibility of the proposed approach by deriving a new significance test for quantitative discovery proteomics for which missing values have been a major issue for traditional methods such as the t-test. We evaluate the result on two label-free (phospho) proteomics datasets based on ion-intensity quantitation. Available at http://www.oncoproteomics.nl/software/stest.html : t.pham@vumc.nl. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  12. Population size is weakly related to quantitative genetic variation and trait differentiation in a stream fish.

    PubMed

    Wood, Jacquelyn L A; Tezel, Defne; Joyal, Destin; Fraser, Dylan J

    2015-09-01

    How population size influences quantitative genetic variation and differentiation among natural, fragmented populations remains unresolved. Small, isolated populations might occupy poor quality habitats and lose genetic variation more rapidly due to genetic drift than large populations. Genetic drift might furthermore overcome selection as population size decreases. Collectively, this might result in directional changes in additive genetic variation (VA ) and trait differentiation (QST ) from small to large population size. Alternatively, small populations might exhibit larger variation in VA and QST if habitat fragmentation increases variability in habitat types. We explored these alternatives by investigating VA and QST using nine fragmented populations of brook trout varying 50-fold in census size N (179-8416) and 10-fold in effective number of breeders, Nb (18-135). Across 15 traits, no evidence was found for consistent differences in VA and QST with population size and almost no evidence for increased variability of VA or QST estimates at small population size. This suggests that (i) small populations of some species may retain adaptive potential according to commonly adopted quantitative genetic measures and (ii) populations of varying sizes experience a variety of environmental conditions in nature, however extremely large studies are likely required before any firm conclusions can be made. © 2015 The Author(s). Evolution © 2015 The Society for the Study of Evolution.

  13. Subtelomeric Rearrangements and Copy Number Variations in People with Intellectual Disabilities

    ERIC Educational Resources Information Center

    Christofolini, D. M.; De Paula Ramos, M. A.; Kulikowski, L. D.; Da Silva Bellucco, F. T.; Belangero, S. I. N.; Brunoni, D.; Melaragno, M. I.

    2010-01-01

    Background: The most prevalent type of structural variation in the human genome is represented by copy number variations that can affect transcription levels, sequence, structure and function of genes. Method: In the present study, we used the multiplex ligation-dependent probe amplification (MLPA) technique and quantitative PCR for the detection…

  14. Intra- and Inter-Individual Variation in Self-Reported Code-Switching Patterns of Adult Multilinguals

    ERIC Educational Resources Information Center

    Dewaele, Jean-Marc; Li, Wei

    2014-01-01

    The present study is a large-scale quantitative analysis of intra-individual variation (linked to type of interlocutor) and inter-individual variation (linked to multilingualism, sociobiographical variables and three personality traits) in self-reported frequency of code-switching (CS) among 2116 multilinguals. We found a significant effect of…

  15. Genetic variability of garlic accessions as revealed by agro-morphological traits evaluated under different environments.

    PubMed

    Hoogerheide, E S S; Azevedo Filho, J A; Vencovsky, R; Zucchi, M I; Zago, B W; Pinheiro, J B

    2017-05-31

    The cultivated garlic (Allium sativum L.) displays a wide phenotypic diversity, which is derived from natural mutations and phenotypic plasticity, due to dependence on soil type, moisture, latitude, altitude and cultural practices, leading to a large number of cultivars. This study aimed to evaluate the genetic variability shown by 63 garlic accessions belonging to Instituto Agronômico de Campinas and the Escola Superior de Agricultura "Luiz de Queiroz" germplasm collections. We evaluated ten quantitative characters in experimental trials conducted under two localities of the State of São Paulo: Monte Alegre do Sul and Piracicaba, during the agricultural year of 2007, in a randomized blocks design with five replications. The Mahalanobis distance was used to measure genetic dissimilarities. The UPGMA method and Tocher's method were used as clustering procedures. Results indicated significant variation among accessions (P < 0.01) for all evaluated characters, except for the percentage of secondary bulb growth in MAS, indicating the existence of genetic variation for bulb production, and germplasm evaluation considering different environments is more reliable for the characterization of the genotypic variability among garlic accessions, since it diminishes the environmental effects in the clustering of genotypes.

  16. Modelling the co-evolution of indirect genetic effects and inherited variability.

    PubMed

    Marjanovic, Jovana; Mulder, Han A; Rönnegård, Lars; Bijma, Piter

    2018-03-28

    When individuals interact, their phenotypes may be affected not only by their own genes but also by genes in their social partners. This phenomenon is known as Indirect Genetic Effects (IGEs). In aquaculture species and some plants, however, competition not only affects trait levels of individuals, but also inflates variability of trait values among individuals. In the field of quantitative genetics, the variability of trait values has been studied as a quantitative trait in itself, and is often referred to as inherited variability. Such studies, however, consider only the genetic effect of the focal individual on trait variability and do not make a connection to competition. Although the observed phenotypic relationship between competition and variability suggests an underlying genetic relationship, the current quantitative genetic models of IGE and inherited variability do not allow for such a relationship. The lack of quantitative genetic models that connect IGEs to inherited variability limits our understanding of the potential of variability to respond to selection, both in nature and agriculture. Models of trait levels, for example, show that IGEs may considerably change heritable variation in trait values. Currently, we lack the tools to investigate whether this result extends to variability of trait values. Here we present a model that integrates IGEs and inherited variability. In this model, the target phenotype, say growth rate, is a function of the genetic and environmental effects of the focal individual and of the difference in trait value between the social partner and the focal individual, multiplied by a regression coefficient. The regression coefficient is a genetic trait, which is a measure of cooperation; a negative value indicates competition, a positive value cooperation, and an increasing value due to selection indicates the evolution of cooperation. In contrast to the existing quantitative genetic models, our model allows for co-evolution of IGEs and variability, as the regression coefficient can respond to selection. Our simulations show that the model results in increased variability of body weight with increasing competition. When competition decreases, i.e., cooperation evolves, variability becomes significantly smaller. Hence, our model facilitates quantitative genetic studies on the relationship between IGEs and inherited variability. Moreover, our findings suggest that we may have been overlooking an entire level of genetic variation in variability, the one due to IGEs.

  17. QTLs for heading date and plant height under multiple environments in rice.

    PubMed

    Han, Zhongmin; Hu, Wei; Tan, Cong; Xing, Yongzhong

    2017-02-01

    Both heading date and plant height are important traits related to grain yield in rice. In this study, a recombinant inbred lines (RILs) population was used to map quantitative trait loci (QTLs) for both traits under 3 long-day (LD) environments and 1 short-day (SD) environment. A total of eight QTLs for heading date and three QTLs for plant height were detected by composite interval mapping under LD conditions. Additional one QTL for heading date and three QTLs for plant height were identified by Two-QTL model under LD conditions. Among them, major QTLs qHd7.1, qHd7.2 and qHd8 for heading date, and qPh1 and qPh7.1 for plant height were commonly detected. qHd7.1 and qHd7.2 were mapped to small regions of less than 1 cM. Genome position comparison of previously cloned genes with QTLs detected in this study revealed that qHd5 and qPh3.1 were two novel QTLs. The alleles of these QTLs increasing trait values were dispersed in both parents, which well explained the transgressive segregation observed in this population. In addition, the interaction between qHd7.1 and qHd8 was detected under all LD conditions. Multiple-QTL model analysis revealed that all QTLs and their interactions explained over 80% of heading date variation and 50% of plant height variation. Two heading date QTLs were detected under SD condition. Of them, qHd10 were commonly identified under LD condition. The difference in QTL detection between LD and SD conditions indicated most heading date QTLs are sensitive to photoperiod. These findings will benefit breeding design for heading date and plant height in rice.

  18. Timing of shoot development transitions affects degree of perenniality in Arabidopsis lyrata (Brassicaceae).

    PubMed

    Remington, David L; Figueroa, Jennifer; Rane, Mitali

    2015-09-17

    Perenniality is best understood in quantitative terms, involving the relationship between production vs. turnover of meristems, biomass, or energy reserves. Previous quantitative trait locus (QTL) studies using divergent populations of the perennial rock cress Arabidopsis lyrata have shown that trade-offs in vegetative growth vs. reproduction are due to cascading effects of differences in early vegetative development, which contribute to local adaptation. However, details of the developmental differences and how they affect perenniality remained unclear. In this study, we investigated in detail the developmental differences in perenniality between populations. A. lyrata from Norway and North Carolina populations, representing contrasting environments and degrees of perenniality, were grown under controlled conditions, and data were collected on plant phenology and shoot-level development. We tested hypotheses that differences in perenniality involve strict allocation of lateral meristems to vegetative vs. reproductive fates, or alternatively quantitative effects of pre-reproductive vegetative development. The two populations showed large differences in the degree of vegetative development on individual shoots prior to reproductive transitions. The number of leaves produced on shoots prior to bolting, and not strict meristem allocation or variation in apical dominance, was able to explain variation in the number of inflorescences on individual plants. These results suggested that allocation of time to shoot vegetative vs. reproductive development could be a major factor in resource allocation differences between the populations. Based on these results and those of previous QTL studies, we propose a model in which the degree of shoot vegetative development shapes the developmental context for reproduction and subsequent vegetative growth in different environments. Climate-specific effects of shoot development patterns on reproductive output and survival may result in divergent evolutionary trajectories along a perenniality continuum, which may have broader relevance for plant life history evolution.

  19. Quantitative Measures of Immersion in Cloud and the Biogeography of Cloud Forests

    NASA Technical Reports Server (NTRS)

    Lawton, R. O.; Nair, U. S.; Ray, D.; Regmi, A.; Pounds, J. A.; Welch, R. M.

    2010-01-01

    Sites described as tropical montane cloud forests differ greatly, in part because observers tend to differ in their opinion as to what constitutes frequent and prolonged immersion in cloud. This definitional difficulty interferes with hydrologic analyses, assessments of environmental impacts on ecosystems, and biogeographical analyses of cloud forest communities and species. Quantitative measurements of cloud immersion can be obtained on site, but the observations are necessarily spatially limited, although well-placed observers can examine 10 50 km of a mountain range under rainless conditions. Regional analyses, however, require observations at a broader scale. This chapter discusses remote sensing and modeling approaches that can provide quantitative measures of the spatiotemporal patterns of cloud cover and cloud immersion in tropical mountain ranges. These approaches integrate remote sensing tools of various spatial resolutions and frequencies of observation, digital elevation models, regional atmospheric models, and ground-based observations to provide measures of cloud cover, cloud base height, and the intersection of cloud and terrain. This combined approach was applied to the Monteverde region of northern Costa Rica to illustrate how the proportion of time the forest is immersed in cloud may vary spatially and temporally. The observed spatial variation was largely due to patterns of airflow over the mountains. The temporal variation reflected the diurnal rise and fall of the orographic cloud base, which was influenced in turn by synoptic weather conditions, the seasonal movement of the Intertropical Convergence Zone and the north-easterly trade winds. Knowledge of the proportion of the time that sites are immersed in clouds should facilitate ecological comparisons and biogeographical analyses, as well as land use planning and hydrologic assessments in areas where intensive on-site work is not feasible.

  20. Quantitative precorneal disposition of topically applied pilocarpine nitrate in rabbit eyes.

    PubMed

    Patton, T F; Robinson, J R

    1976-09-01

    The present study was designed to quantitate the influence of several precorneal factors on the disposition of topically applied ophthalmic drugs. With tritiated pilocarpine nitrate methodology was developed for in vivo assessment of the relative contribution of tear turnover, instilled solution drainage, and nonproductive absorption to the loss of drug from the precorneal area. Studies were conducted in both awake and anesthetized rabbits whose drainage ducts were either unobstructed or plugged, and the loss of drug was monitored directly from the precorneal area or as appearance in the aqueous humor. By selective variation in experimental conditions, the influence of tear turnover, instilled solution drainage, and nonproductive absorption on ocular drug bioavailability was separately studied and quantitated. Instilled solution drainage was by far the largest contributing factor in the loss of drug from the precorneal area of the eye and, in the range of instilled volumes normally employed, tear turnover played a relatively minor role in drug loss. Compared to the cornea, precorneal tissue other than the cornea has a considerably greater surface area and thus is a potentially signifanct route for drug loss. However, under normal circumstances, loss by this route was minimal as compared to loss via instilled solution drainage.

  1. Quantitative trait loci mapping of heat tolerance in broccoli (Brassica oleracea var. italica) using genotyping-by-sequencing.

    PubMed

    Branham, Sandra E; Stansell, Zachary J; Couillard, David M; Farnham, Mark W

    2017-03-01

    Five quantitative trait loci and one epistatic interaction were associated with heat tolerance in a doubled haploid population of broccoli evaluated in three summer field trials. Predicted rising global temperatures due to climate change have generated a demand for crops that are resistant to yield and quality losses from heat stress. Broccoli (Brassica oleracea var. italica) is a cool weather crop with high temperatures during production decreasing both head quality and yield. Breeding for heat tolerance in broccoli has potential to both expand viable production areas and extend the growing season but breeding efficiency is constrained by limited genetic information. A doubled haploid (DH) broccoli population segregating for heat tolerance was evaluated for head quality in three summer fields in Charleston, SC, USA. Multiple quantitative trait loci (QTL) mapping of 1,423 single nucleotide polymorphisms developed through genotyping-by-sequencing identified five QTL and one positive epistatic interaction that explained 62.1% of variation in heat tolerance. The QTL identified here can be used to develop markers for marker-assisted selection and to increase our understanding of the molecular mechanisms underlying plant response to heat stress.

  2. Two worlds collide: Image analysis methods for quantifying structural variation in cluster molecular dynamics

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

    Steenbergen, K. G., E-mail: kgsteen@gmail.com; Gaston, N.

    2014-02-14

    Inspired by methods of remote sensing image analysis, we analyze structural variation in cluster molecular dynamics (MD) simulations through a unique application of the principal component analysis (PCA) and Pearson Correlation Coefficient (PCC). The PCA analysis characterizes the geometric shape of the cluster structure at each time step, yielding a detailed and quantitative measure of structural stability and variation at finite temperature. Our PCC analysis captures bond structure variation in MD, which can be used to both supplement the PCA analysis as well as compare bond patterns between different cluster sizes. Relying only on atomic position data, without requirement formore » a priori structural input, PCA and PCC can be used to analyze both classical and ab initio MD simulations for any cluster composition or electronic configuration. Taken together, these statistical tools represent powerful new techniques for quantitative structural characterization and isomer identification in cluster MD.« less

  3. Variation compensation and analysis on diaphragm curvature analysis for emphysema quantification on whole lung CT scans

    NASA Astrophysics Data System (ADS)

    Keller, Brad M.; Reeves, Anthony P.; Barr, R. Graham; Yankelevitz, David F.; Henschke, Claudia I.

    2010-03-01

    CT scans allow for the quantitative evaluation of the anatomical bases of emphysema. Recently, a non-density based geometric measurement of lung diagphragm curvature has been proposed as a method for the quantification of emphysema from CT. This work analyzes variability of diaphragm curvature and evaluates the effectiveness of a compensation methodology for the reduction of this variability as compared to emphysema index. Using a dataset of 43 scan-pairs with less than a 100 day time-interval between scans, we find that the diaphragm curvature had a trend towards lower overall variability over emphysema index (95% CI:-9.7 to + 14.7 vs. -15.8 to +12.0), and that the variation of both measures was reduced after compensation. We conclude that the variation of the new measure can be considered comparable to the established measure and the compensation can reduce the apparent variation of quantitative measures successfully.

  4. Two worlds collide: image analysis methods for quantifying structural variation in cluster molecular dynamics.

    PubMed

    Steenbergen, K G; Gaston, N

    2014-02-14

    Inspired by methods of remote sensing image analysis, we analyze structural variation in cluster molecular dynamics (MD) simulations through a unique application of the principal component analysis (PCA) and Pearson Correlation Coefficient (PCC). The PCA analysis characterizes the geometric shape of the cluster structure at each time step, yielding a detailed and quantitative measure of structural stability and variation at finite temperature. Our PCC analysis captures bond structure variation in MD, which can be used to both supplement the PCA analysis as well as compare bond patterns between different cluster sizes. Relying only on atomic position data, without requirement for a priori structural input, PCA and PCC can be used to analyze both classical and ab initio MD simulations for any cluster composition or electronic configuration. Taken together, these statistical tools represent powerful new techniques for quantitative structural characterization and isomer identification in cluster MD.

  5. Comparative Performance of Reagents and Platforms for Quantitation of Cytomegalovirus DNA by Digital PCR

    PubMed Central

    Gu, Z.; Sam, S. S.; Sun, Y.; Tang, L.; Pounds, S.; Caliendo, A. M.

    2016-01-01

    A potential benefit of digital PCR is a reduction in result variability across assays and platforms. Three sets of PCR reagents were tested on two digital PCR systems (Bio-Rad and RainDance), using three different sets of PCR reagents for quantitation of cytomegalovirus (CMV). Both commercial quantitative viral standards and 16 patient samples (n = 16) were tested. Quantitative accuracy (compared to nominal values) and variability were determined based on viral standard testing results. Quantitative correlation and variability were assessed with pairwise comparisons across all reagent-platform combinations for clinical plasma sample results. The three reagent sets, when used to assay quantitative standards on the Bio-Rad system, all showed a high degree of accuracy, low variability, and close agreement with one another. When used on the RainDance system, one of the three reagent sets appeared to have a much better correlation to nominal values than did the other two. Quantitative results for patient samples showed good correlation in most pairwise comparisons, with some showing poorer correlations when testing samples with low viral loads. Digital PCR is a robust method for measuring CMV viral load. Some degree of result variation may be seen, depending on platform and reagents used; this variation appears to be greater in samples with low viral load values. PMID:27535685

  6. 75 FR 78215 - Limitation of Duty-free Imports of Apparel Articles Assembled in Haiti Under the Haitian...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-12-15

    ...: Notification of Annual Quantitative Limit on Certain Apparel under HOPE. DATES: Effective Date: December 20...-added program is subject to a quantitative limitation. HOPE provides that the quantitative limitation... quantitative limitation for qualifying apparel imported from Haiti under the value-added program will be an...

  7. 76 FR 78241 - Limitation of Duty-Free Imports of Apparel Articles Assembled in Haiti Under the Haitian...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-12-16

    ...: Notification of Annual Quantitative Limit on Certain Apparel under HOPE. DATES: Effective Date: December 20...-added program is subject to a quantitative limitation. HOPE provides that the quantitative limitation... quantitative limitation for qualifying apparel imported from Haiti under the value-added program will be an...

  8. 77 FR 75148 - Limitation of Duty-Free Imports of Apparel Articles Assembled in Haiti Under the Haitian...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-12-19

    ... quantitative limit on certain apparel under HOPE. DATES: Effective Date: December 20, 2012. FOR FURTHER...-added program is subject to a quantitative limitation. HOPE provides that the quantitative limitation... beginning on December 20, 2012, the quantitative limitation for qualifying apparel imported from Haiti under...

  9. 78 FR 76817 - Limitation of Duty-Free Imports of Apparel Articles Assembled in Haiti Under the Haitian...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-12-19

    ...: Notification of Annual Quantitative Limit on Certain Apparel under HOPE. DATES: Effective Date: December 20...-added program is subject to a quantitative limitation. HOPE provides that the quantitative limitation... quantitative limitation for qualifying apparel imported from Haiti under the value-added program will be an...

  10. Quantitative Variation of Flavonoids and Diterpenes in Leaves and Stems of Cistus ladanifer L. at Different Ages.

    PubMed

    Valares Masa, Cristina; Sosa Díaz, Teresa; Alías Gallego, Juan Carlos; Chaves Lobón, Natividad

    2016-02-27

    The compounds derived from secondary metabolism in plants perform a variety of ecological functions, providing the plant with resistance to biotic and abiotic factors. The basal levels of these metabolites for each organ, tissue or cell type depend on the development stage of the plant and they may be modified as a response to biotic and/or abiotic stress. As a consequence, the resistance state of a plant may vary in space and time. The secondary metabolites of Cistus ladanifer have been quantified in leaves and stems throughout autumn, winter, spring and summer, and at different ages of the plant. This study shows that there are significant differences between young leaves, mature leaves and stems, and between individuals of different ages. Young leaves show significantly greater synthesis of flavonoids and diterpenes than mature leaves and stems, with a clear seasonal variation, and the differences between leaves at different growth stages and stems is maintained during the quantified seasons. With respect to age, specimens under one year of age secreted significantly lower amounts of compounds. The variation in the composition of secondary metabolites between different parts of the plant, the season and the variations in age may determine the interactions of Cistus ladanifer with the biotic and abiotic factors to which it is exposed.

  11. The Convergent Evolution of Blue Iris Pigmentation in Primates Took Distinct Molecular Paths

    PubMed Central

    Meyer, Wynn K; Zhang, Sidi; Hayakawa, Sachiko; Imai, Hiroo; Przeworski, Molly

    2013-01-01

    How many distinct molecular paths lead to the same phenotype? One approach to this question has been to examine the genetic basis of convergent traits, which likely evolved repeatedly under a shared selective pressure. We investigated the convergent phenotype of blue iris pigmentation, which has arisen independently in four primate lineages: humans, blue-eyed black lemurs, Japanese macaques, and spider monkeys. Characterizing the phenotype across these species, we found that the variation within the blue-eyed subsets of each species occupies strongly overlapping regions of CIE L*a*b* color space. Yet whereas Japanese macaques and humans display continuous variation, the phenotypes of blue-eyed black lemurs and their sister species (whose irises are brown) occupy more clustered subspaces. Variation in an enhancer of OCA2 is primarily responsible for the phenotypic difference between humans with blue and brown irises. In the orthologous region, we found no variant that distinguishes the two lemur species or associates with quantitative phenotypic variation in Japanese macaques. Given the high similarity between the blue iris phenotypes in these species and that in humans, this finding implies that evolution has used different molecular paths to reach the same end. Am J Phys Anthropol 151:398–407, 2013.© 2013 Wiley Periodicals, Inc. PMID:23640739

  12. A New Variational Approach for Multiplicative Noise and Blur Removal

    PubMed Central

    Ullah, Asmat; Chen, Wen; Khan, Mushtaq Ahmad; Sun, HongGuang

    2017-01-01

    This paper proposes a new variational model for joint multiplicative denoising and deblurring. It combines a total generalized variation filter (which has been proved to be able to reduce the blocky-effects by being aware of high-order smoothness) and shearlet transform (that effectively preserves anisotropic image features such as sharp edges, curves and so on). The new model takes the advantage of both regularizers since it is able to minimize the staircase effects while preserving sharp edges, textures and other fine image details. The existence and uniqueness of a solution to the proposed variational model is also discussed. The resulting energy functional is then solved by using alternating direction method of multipliers. Numerical experiments showing that the proposed model achieves satisfactory restoration results, both visually and quantitatively in handling the blur (motion, Gaussian, disk, and Moffat) and multiplicative noise (Gaussian, Gamma, or Rayleigh) reduction. A comparison with other recent methods in this field is provided as well. The proposed model can also be applied for restoring both single and multi-channel images contaminated with multiplicative noise, and permit cross-channel blurs when the underlying image has more than one channel. Numerical tests on color images are conducted to demonstrate the effectiveness of the proposed model. PMID:28141802

  13. A genome-wide association study of a global rice panel reveals resistance in Oryza sativa to root-knot nematodes

    PubMed Central

    Dimkpa, Stanley O. N.; Lahari, Zobaida; Shrestha, Roshi; Douglas, Alex; Gheysen, Godelieve; Price, Adam H.

    2016-01-01

    The root-knot nematode Meloidogyne graminicola is one of the most serious nematode pests worldwide and represents a major constraint on rice production. While variation in the susceptibility of Asian rice (Oryza sativa) exists, so far no strong and reliable resistance has been reported. Quantitative trait loci for partial resistance have been reported but no underlying genes have been tagged or cloned. Here, 332 accessions of the Rice Diversity Panel 1 were assessed for gall formation, revealing large variation across all subpopulations of rice and higher susceptibility in temperate japonica accessions. Accessions Khao Pahk Maw and LD 24 appeared to be resistant, which was confirmed in large pot experiments where no galls were observed. Detailed observations on these two accessions revealed no nematodes inside the roots 2 days after inoculation and very few females after 17 days (5 in Khao Pahk Maw and <1 in LD 24, in comparison with >100 in the susceptible controls). These two cultivars appear ideal donors for breeding root-knot nematode resistance. A genome-wide association study revealed 11 quantitative trait loci, two of which are close to epistatic loci detected in the Bala x Azucena population. The discussion highlights a small number of candidate genes worth exploring further, in particular many genes with lectin domains and genes on chromosome 11 with homology to the Hordeum Mla locus. PMID:26552884

  14. Quantitative variation and biosynthesis of hindgut volatiles associated with the red turpentine beetle, Dendroctonus valens LeConte, at different attack phases.

    PubMed

    Shi, Z-H; Sun, J-H

    2010-06-01

    The red turpentine beetle (RTB), Dendroctonus valens LeConte, is a destructive invasive forest pest in China. For such tree-killing species, how to initiate a volatile-mediated mass attack is of great importance during the course of establishment. To understand the hindgut volatile production mechanism underlying mass attack initiated by RTB, coupled gas chromatography-mass spectrometry and 13C-labelled precursors were applied to explore the quantitative variation and biosynthesis of volatiles associated with RTB at different attack phases. Five previously described volatiles, trans-verbenol, myrtenol, cis-verbenol, myrtenal and verbenone, were identified and quantified from extracts of female and male hindguts, with the first two compounds as the major components and the latter three as minor constituents. In newly emerged females and males, only minute amounts of these compounds were detected. The quantity of volatiles from female adults significantly increased after they fed on bolts. Male adults also yielded larger quantities of volatiles after they joined females in galleries, which suggested that RTB males could accelerate the mass colonization on host trees. We also confirmed that RTB produced the five volatiles through oxidizing the major host monoterpene, alpha-pinene, but not synthesized de novo since products were labeled without 13C. The implication of this study in understanding the successful invasion of RTB is discussed.

  15. Genomic linkage of male song and female acoustic preference QTL underlying a rapid species radiation

    PubMed Central

    Shaw, Kerry L.; Lesnick, Sky C.

    2009-01-01

    The genetic coupling hypothesis of signal-preference evolution, whereby the same genes control male signal and female preference for that signal, was first inspired by the evolution of cricket acoustic communication nearly 50 years ago. To examine this hypothesis, we compared the genomic location of quantitative trait loci (QTL) underlying male song and female acoustic preference variation in the Hawaiian cricket genus Laupala. We document a QTL underlying female acoustic preference variation between 2 closely related species (Laupala kohalensis and Laupala paranigra). This preference QTL colocalizes with a song QTL identified previously, providing compelling evidence for a genomic linkage of the genes underlying these traits. We show that both song and preference QTL make small to moderate contributions to the behavioral difference between species, suggesting that divergence in mating behavior among Laupala species is due to the fixation of many genes of minor effect. The diversity of acoustic signaling systems in crickets exemplifies the evolution of elaborate male displays by sexual selection through female choice. Our data reveal genetic conditions that would enable functional coordination between song and acoustic preference divergence during speciation, resulting in a behaviorally coupled mode of signal-preference evolution. Interestingly, Laupala exhibits one of the fastest rates of speciation in animals, concomitant with equally rapid evolution in sexual signaling behaviors. Genomic linkage may facilitate rapid speciation by contributing to genetic correlations between sexual signaling behaviors that eventually cause sexual isolation between diverging populations. PMID:19487670

  16. Evolution in health and medicine Sackler colloquium: Stochastic epigenetic variation as a driving force of development, evolutionary adaptation, and disease.

    PubMed

    Feinberg, Andrew P; Irizarry, Rafael A

    2010-01-26

    Neo-Darwinian evolutionary theory is based on exquisite selection of phenotypes caused by small genetic variations, which is the basis of quantitative trait contribution to phenotype and disease. Epigenetics is the study of nonsequence-based changes, such as DNA methylation, heritable during cell division. Previous attempts to incorporate epigenetics into evolutionary thinking have focused on Lamarckian inheritance, that is, environmentally directed epigenetic changes. Here, we propose a new non-Lamarckian theory for a role of epigenetics in evolution. We suggest that genetic variants that do not change the mean phenotype could change the variability of phenotype; and this could be mediated epigenetically. This inherited stochastic variation model would provide a mechanism to explain an epigenetic role of developmental biology in selectable phenotypic variation, as well as the largely unexplained heritable genetic variation underlying common complex disease. We provide two experimental results as proof of principle. The first result is direct evidence for stochastic epigenetic variation, identifying highly variably DNA-methylated regions in mouse and human liver and mouse brain, associated with development and morphogenesis. The second is a heritable genetic mechanism for variable methylation, namely the loss or gain of CpG dinucleotides over evolutionary time. Finally, we model genetically inherited stochastic variation in evolution, showing that it provides a powerful mechanism for evolutionary adaptation in changing environments that can be mediated epigenetically. These data suggest that genetically inherited propensity to phenotypic variability, even with no change in the mean phenotype, substantially increases fitness while increasing the disease susceptibility of a population with a changing environment.

  17. Soft Listeria: actin-based propulsion of liquid drops.

    PubMed

    Boukellal, Hakim; Campás, Otger; Joanny, Jean-François; Prost, Jacques; Sykes, Cécile

    2004-06-01

    We study the motion of oil drops propelled by actin polymerization in cell extracts. Drops deform and acquire a pearlike shape under the action of the elastic stresses exerted by the actin comet, a tail of cross-linked actin filaments. We solve this free boundary problem and calculate the drop shape taking into account the elasticity of the actin gel and the variation of the polymerization velocity with normal stress. The pressure balance on the liquid drop imposes a zero propulsive force if gradients in surface tension or internal pressure are not taken into account. Quantitative parameters of actin polymerization are obtained by fitting theory to experiment.

  18. Joint MR-PET reconstruction using a multi-channel image regularizer

    PubMed Central

    Koesters, Thomas; Otazo, Ricardo; Bredies, Kristian; Sodickson, Daniel K

    2016-01-01

    While current state of the art MR-PET scanners enable simultaneous MR and PET measurements, the acquired data sets are still usually reconstructed separately. We propose a new multi-modality reconstruction framework using second order Total Generalized Variation (TGV) as a dedicated multi-channel regularization functional that jointly reconstructs images from both modalities. In this way, information about the underlying anatomy is shared during the image reconstruction process while unique differences are preserved. Results from numerical simulations and in-vivo experiments using a range of accelerated MR acquisitions and different MR image contrasts demonstrate improved PET image quality, resolution, and quantitative accuracy. PMID:28055827

  19. Effects of functionally asexual reproduction on quantitative genetic variation in the evening primroses (Oenothera, Onagraceae).

    PubMed

    Godfrey, Ryan M; Johnson, Marc T J

    2014-11-01

    It has long been predicted that a loss of sexual reproduction leads to decreased heritable variation within populations and increased differentiation between populations. Despite an abundance of theory, there are few empirical tests of how sex affects genetic variation in phenotypic traits, especially for plants. Here we test whether repeated losses of two critical components of sex (recombination and segregation) in the evening primroses (Oenothera L., Onagraceae) affect quantitative genetic variation within and between populations. We sampled multiple genetic families from 3-5 populations from each of eight Oenothera species, which represented four independent transitions between sexual reproduction and a functionally asexual genetic system called "permanent translocation heterozygosity." We used quantitative genetics methods to partition genetic variation within and between populations for eight plant traits related to growth, leaf physiology, flowering, and resistance to herbivores. Heritability was, on average, 74% higher in sexual Oenothera populations than in functionally asexual populations, with plant growth rate, specific leaf area, and the percentage of leaf water content showing the strongest differences. By contrast, genetic differentiation among populations was 2.8× higher in functionally asexual vs. sexual Oenothera species. This difference was particularly strong for specific leaf area. Sexual populations tended to exhibit higher genetic correlations among traits, but this difference was weakly supported. These results support the prediction that sexual reproduction maintains higher genetic variation within populations, which may facilitate adaptive evolution. We also found partial support for the prediction that a loss of sex leads to greater population differentiation, which may elevate speciation rates. © 2014 Botanical Society of America, Inc.

  20. Quantitative Detection of Cracks in Steel Using Eddy Current Pulsed Thermography.

    PubMed

    Shi, Zhanqun; Xu, Xiaoyu; Ma, Jiaojiao; Zhen, Dong; Zhang, Hao

    2018-04-02

    Small cracks are common defects in steel and often lead to catastrophic accidents in industrial applications. Various nondestructive testing methods have been investigated for crack detection; however, most current methods focus on qualitative crack identification and image processing. In this study, eddy current pulsed thermography (ECPT) was applied for quantitative crack detection based on derivative analysis of temperature variation. The effects of the incentive parameters on the temperature variation were analyzed in the simulation study. The crack profile and position are identified in the thermal image based on the Canny edge detection algorithm. Then, one or more trajectories are determined through the crack profile in order to determine the crack boundary through its temperature distribution. The slope curve along the trajectory is obtained. Finally, quantitative analysis of the crack sizes was performed by analyzing the features of the slope curves. The experimental verification showed that the crack sizes could be quantitatively detected with errors of less than 1%. Therefore, the proposed ECPT method was demonstrated to be a feasible and effective nondestructive approach for quantitative crack detection.

  1. Probing multiscale transport and inhomogeneity in a lithium-ion cells using in-situ neutron methods

    DOE PAGES

    Zhou, Hui; An, Ke; Allu, Srikanth; ...

    2016-01-01

    Here, we demonstrate for the first time the lithiation process in graphitic anodes using insitu neutron radiography in a pouch cell format. The neutron absorption contrast shows a direct correlation between degree of lithiation and the discharge voltage plateau. Furthermore, we provide a semi-quantitative comparison between the observed spatial variations of neutron attenuation line profile across the graphite electrode and the calculated lithium concentration profiles computed under similar electrochemical discharge conditions. In conjunction, in situ neutron diffraction of a similar pouch cell under identical test protocol was carried to obtain information about the local phase changes upon lithiation. Combined in-situmore » radiography and diffraction opens up a powerful nondestructive method to understand the multi-scale nature of lithium transport and degradation in practical lithium-ion cells.« less

  2. Possible physicochemical facies of wehrlitization of ultramafic rocks in the mantle wedge under volcanoes of the Kuril-Kamchatka frontal zone

    NASA Astrophysics Data System (ADS)

    Sharapov, V. N.; Kuznetsov, G. V.; Chudnenko, K. V.

    2016-04-01

    A quantitative model describing the dynamics of the process of metasomatic wehrlitization of ultramafics is put forward. It is elaborated for the process taking place in permeable fault zones over a time span of 50 kyr with fluid source depths in the range of 150-50 km at initial temperatures of 1000-1200°C. The possibility of existence of two physical-chemical facies of this process has been demonstrated: one occurs at the level of garnet and the other is at the level of spinel depth facies. Their realization is related to the dependence of the activity of Mg-Ca-Si metasomatism against variation in the composition of low-molecular hydrocarbons in a fluid under conditions of changing T and P in a system.

  3. Role of the ocean in climate changes

    NASA Technical Reports Server (NTRS)

    Gulev, Sergey K.

    1992-01-01

    The present program aimed at the study of ocean climate change is prepared by a group of scientists from State Oceanographic Institute, Academy of Science of Russia, Academy of Science of Ukraine and Moscow State University. It appears to be a natural evolution of ideas and achievements that have been developed under national and international ocean research projects such as SECTIONS, WOCE, TOGA, JGOFS and others. The two primary goals are set in the program ROCC. (1) Quantitative description of the global interoceanic 'conveyor' and it's role in formation of the large scale anomalies in the North Atlantic. The objectives on the way to this goal are: to get the reliable estimates of year-to-year variations of heat and water exchange between the Atlantic Ocean and the atmosphere; to establish and understand the physics of long period variations in meridianal heat and fresh water transport (MHT and MFWT) in the Atlantic Ocean; to analyze the general mechanisms, that form the MHT and MFWT in low latitudes (Ekman flux), middle latitudes (western boundary currents) and high latitudes (deep convection) of the North Atlantic; to establish and to give quantitative description of the realization of global changes in SST, surface salinity, sea level and sea ice data. (2) Development of the observational system pointed at tracing the climate changes in the North Atlantic. This goal merges the following objectives: to find the proper sites that form the inter annual variations of MHT; to study the deep circulation in the 'key' points; to develop the circulation models reflecting the principle features of interoceanic circulation; and to define global and local response of the atmosphere circulation to large scale processes in the Atlantic Ocean.

  4. Fine mapping of a grain weight quantitative trait locus on rice chromosome 8 using near-isogenic lines derived from a cross between Oryza sativa and Oryza rufipogon.

    PubMed

    Xie, Xiaobo; Song, Mi-Hee; Jin, Fengxue; Ahn, Sang-Nag; Suh, Jung-Pil; Hwang, Hung-Goo; McCouch, S R

    2006-09-01

    A quantitative trait locus (QTL) for grain weight (GW) was detected near SSR marker RM210 on chromosome 8 in backcross populations derived from a cross between the Korean japonica cultivar Hwaseongbyeo and Oryza rufipogon (IRGC 105491). The O. rufipogon allele increased GW in the Hwaseongbyeo background despite the fact that O. rufipogon was the small-seeded parent. Using sister BC(3)F(3) near-isogenic lines (NILs), gw8.1 was validated and mapped to a 6.1 cM region in the interval between RM42 and RM210 (P < or = 0.0001). Substitution mapping with eight BC(3)F(4) sub-NILs further narrowed the interval containing gw8.1 to about 306.4 kb between markers RM23201.CNR151 and RM30000.CNR99. A yield trial using homozygous BC(3)F(4) sister sub-NILs and the Hwaseongbyeo recurrent parent indicated that the NIL carrying an O. rufipogon chromosome segment across the entire gw8.1 target region out-yielded its sister NIL (containing Hwaseongbyeo chromosome in the RM42-RM210 interval) by 9% (P=0.029). The higher-yielding NIL produced 19.3% more grain than the Hwaseongbyeo recurrent parent (P=0.018). Analysis of a BC(3)F(4) NIL indicated that the variation for GW is associated with variation in grain shape, specifically grain length. The locus, gw8.1 is of particular interest because of its independence from undesirable height and grain quality traits. SSR markers tightly linked to the GW QTL will facilitate cloning of the gene underlying this QTL as well as marker-assisted selection for variation in GW in an applied breeding program.

  5. Evaluations of UltraiQ software for objective ultrasound image quality assessment using images from a commercial scanner.

    PubMed

    Long, Zaiyang; Tradup, Donald J; Stekel, Scott F; Gorny, Krzysztof R; Hangiandreou, Nicholas J

    2018-03-01

    We evaluated a commercially available software package that uses B-mode images to semi-automatically measure quantitative metrics of ultrasound image quality, such as contrast response, depth of penetration (DOP), and spatial resolution (lateral, axial, and elevational). Since measurement of elevational resolution is not a part of the software package, we achieved it by acquiring phantom images with transducers tilted at 45 degrees relative to the phantom. Each measurement was assessed in terms of measurement stability, sensitivity, repeatability, and semi-automated measurement success rate. All assessments were performed on a GE Logiq E9 ultrasound system with linear (9L or 11L), curved (C1-5), and sector (S1-5) transducers, using a CIRS model 040GSE phantom. In stability tests, the measurements of contrast, DOP, and spatial resolution remained within a ±10% variation threshold in 90%, 100%, and 69% of cases, respectively. In sensitivity tests, contrast, DOP, and spatial resolution measurements followed the expected behavior in 100%, 100%, and 72% of cases, respectively. In repeatability testing, intra- and inter-individual coefficients of variations were equal to or less than 3.2%, 1.3%, and 4.4% for contrast, DOP, and spatial resolution (lateral and axial), respectively. The coefficients of variation corresponding to the elevational resolution test were all within 9.5%. Overall, in our assessment, the evaluated package performed well for objective and quantitative assessment of the above-mentioned image qualities under well-controlled acquisition conditions. We are finding it to be useful for various clinical ultrasound applications including performance comparison between scanners from different vendors. © 2018 The Authors. Journal of Applied Clinical Medical Physics published by Wiley Periodicals, Inc. on behalf of American Association of Physicists in Medicine.

  6. Elucidating the genetic basis of antioxidant status in lettuce (Lactuca sativa)

    PubMed Central

    Damerum, Annabelle; Selmes, Stacey L; Biggi, Gaia F; Clarkson, Graham JJ; Rothwell, Steve D; Truco, Maria José; Michelmore, Richard W; Hancock, Robert D; Shellcock, Connie; Chapman, Mark A; Taylor, Gail

    2015-01-01

    A diet rich in phytonutrients from fruit and vegetables has been acknowledged to afford protection against a range of human diseases, but many of the most popular vegetables are low in phytonutrients. Wild relatives of crops may contain allelic variation for genes determining the concentrations of these beneficial phytonutrients, and therefore understanding the genetic basis of this variation is important for breeding efforts to enhance nutritional quality. In this study, lettuce recombinant inbred lines, generated from a cross between wild and cultivated lettuce (Lactuca serriola and Lactuca sativa, respectively), were analysed for antioxidant (AO) potential and important phytonutrients including carotenoids, chlorophyll and phenolic compounds. When grown in two environments, 96 quantitative trait loci (QTL) were identified for these nutritional traits: 4 for AO potential, 2 for carotenoid content, 3 for total chlorophyll content and 87 for individual phenolic compounds (two per compound on average). Most often, the L. serriola alleles conferred an increase in total AOs and metabolites. Candidate genes underlying these QTL were identified by BLASTn searches; in several cases, these had functions suggesting involvement in phytonutrient biosynthetic pathways. Analysis of a QTL on linkage group 3, which accounted for >30% of the variation in AO potential, revealed several candidate genes encoding multiple MYB transcription factors which regulate flavonoid biosynthesis and flavanone 3-hydroxylase, an enzyme involved in the biosynthesis of the flavonoids quercetin and kaempferol, which are known to have powerful AO activity. Follow-up quantitative RT-PCR of these candidates revealed that 5 out of 10 genes investigated were significantly differentially expressed between the wild and cultivated parents, providing further evidence of their potential involvement in determining the contrasting phenotypes. These results offer exciting opportunities to improve the nutritional content and health benefits of lettuce through marker-assisted breeding. PMID:26640696

  7. Elucidating the genetic basis of antioxidant status in lettuce (Lactuca sativa).

    PubMed

    Damerum, Annabelle; Selmes, Stacey L; Biggi, Gaia F; Clarkson, Graham Jj; Rothwell, Steve D; Truco, Maria José; Michelmore, Richard W; Hancock, Robert D; Shellcock, Connie; Chapman, Mark A; Taylor, Gail

    2015-01-01

    A diet rich in phytonutrients from fruit and vegetables has been acknowledged to afford protection against a range of human diseases, but many of the most popular vegetables are low in phytonutrients. Wild relatives of crops may contain allelic variation for genes determining the concentrations of these beneficial phytonutrients, and therefore understanding the genetic basis of this variation is important for breeding efforts to enhance nutritional quality. In this study, lettuce recombinant inbred lines, generated from a cross between wild and cultivated lettuce (Lactuca serriola and Lactuca sativa, respectively), were analysed for antioxidant (AO) potential and important phytonutrients including carotenoids, chlorophyll and phenolic compounds. When grown in two environments, 96 quantitative trait loci (QTL) were identified for these nutritional traits: 4 for AO potential, 2 for carotenoid content, 3 for total chlorophyll content and 87 for individual phenolic compounds (two per compound on average). Most often, the L. serriola alleles conferred an increase in total AOs and metabolites. Candidate genes underlying these QTL were identified by BLASTn searches; in several cases, these had functions suggesting involvement in phytonutrient biosynthetic pathways. Analysis of a QTL on linkage group 3, which accounted for >30% of the variation in AO potential, revealed several candidate genes encoding multiple MYB transcription factors which regulate flavonoid biosynthesis and flavanone 3-hydroxylase, an enzyme involved in the biosynthesis of the flavonoids quercetin and kaempferol, which are known to have powerful AO activity. Follow-up quantitative RT-PCR of these candidates revealed that 5 out of 10 genes investigated were significantly differentially expressed between the wild and cultivated parents, providing further evidence of their potential involvement in determining the contrasting phenotypes. These results offer exciting opportunities to improve the nutritional content and health benefits of lettuce through marker-assisted breeding.

  8. Identification of internal control genes for quantitative expression analysis by real-time PCR in bovine peripheral lymphocytes.

    PubMed

    Spalenza, Veronica; Girolami, Flavia; Bevilacqua, Claudia; Riondato, Fulvio; Rasero, Roberto; Nebbia, Carlo; Sacchi, Paola; Martin, Patrice

    2011-09-01

    Gene expression studies in blood cells, particularly lymphocytes, are useful for monitoring potential exposure to toxicants or environmental pollutants in humans and livestock species. Quantitative PCR is the method of choice for obtaining accurate quantification of mRNA transcripts although variations in the amount of starting material, enzymatic efficiency, and the presence of inhibitors can lead to evaluation errors. As a result, normalization of data is of crucial importance. The most common approach is the use of endogenous reference genes as an internal control, whose expression should ideally not vary among individuals and under different experimental conditions. The accurate selection of reference genes is therefore an important step in interpreting quantitative PCR studies. Since no systematic investigation in bovine lymphocytes has been performed, the aim of the present study was to assess the expression stability of seven candidate reference genes in circulating lymphocytes collected from 15 dairy cows. Following the characterization by flow cytometric analysis of the cell populations obtained from blood through a density gradient procedure, three popular softwares were used to evaluate the gene expression data. The results showed that two genes are sufficient for normalization of quantitative PCR studies in cattle lymphocytes and that YWAHZ, S24 and PPIA are the most stable genes. Copyright © 2010 Elsevier Ltd. All rights reserved.

  9. Temporal variations of cosmic rays over a variety of time scales

    NASA Technical Reports Server (NTRS)

    Jokipii, J. R.; Marti, K.

    1986-01-01

    The variation of the intensity of Galactic cosmic rays in the inner solar system over a wide variety of time scales is discussed, and the generally accepted physical model which can account quantitatively for these modulations is reviewed. The use of direct measurements and of nuclear reactions to study the temporal intensity variations is summarized. It is demonstrated that all of the observed variations could easily be the result of solar variations on long and short time scales.

  10. Genetic Basis for Variation in Wheat Grain Yield in Response to Varying Nitrogen Application.

    PubMed

    Mahjourimajd, Saba; Taylor, Julian; Sznajder, Beata; Timmins, Andy; Shahinnia, Fahimeh; Rengel, Zed; Khabaz-Saberi, Hossein; Kuchel, Haydn; Okamoto, Mamoru; Langridge, Peter

    2016-01-01

    Nitrogen (N) is a major nutrient needed to attain optimal grain yield (GY) in all environments. Nitrogen fertilisers represent a significant production cost, in both monetary and environmental terms. Developing genotypes capable of taking up N early during development while limiting biomass production after establishment and showing high N-use efficiency (NUE) would be economically beneficial. Genetic variation in NUE has been shown previously. Here we describe the genetic characterisation of NUE and identify genetic loci underlying N response under different N fertiliser regimes in a bread wheat population of doubled-haploid lines derived from a cross between two Australian genotypes (RAC875 × Kukri) bred for a similar production environment. NUE field trials were carried out at four sites in South Australia and two in Western Australia across three seasons. There was genotype-by-environment-by-treatment interaction across the sites and also good transgressive segregation for yield under different N supply in the population. We detected some significant Quantitative Trait Loci (QTL) associated with NUE and N response at different rates of N application across the sites and years. It was also possible to identify lines showing positive N response based on the rankings of their Best Linear Unbiased Predictions (BLUPs) within a trial. Dissecting the complexity of the N effect on yield through QTL analysis is a key step towards elucidating the molecular and physiological basis of NUE in wheat.

  11. What affects the predictability of evolutionary constraints using a G-matrix? The relative effects of modular pleiotropy and mutational correlation.

    PubMed

    Chebib, Jobran; Guillaume, Frédéric

    2017-10-01

    Phenotypic traits do not always respond to selection independently from each other and often show correlated responses to selection. The structure of a genotype-phenotype map (GP map) determines trait covariation, which involves variation in the degree and strength of the pleiotropic effects of the underlying genes. It is still unclear, and debated, how much of that structure can be deduced from variational properties of quantitative traits that are inferred from their genetic (co) variance matrix (G-matrix). Here we aim to clarify how the extent of pleiotropy and the correlation among the pleiotropic effects of mutations differentially affect the structure of a G-matrix and our ability to detect genetic constraints from its eigen decomposition. We show that the eigenvectors of a G-matrix can be predictive of evolutionary constraints when they map to underlying pleiotropic modules with correlated mutational effects. Without mutational correlation, evolutionary constraints caused by the fitness costs associated with increased pleiotropy are harder to infer from evolutionary metrics based on a G-matrix's geometric properties because uncorrelated pleiotropic effects do not affect traits' genetic correlations. Correlational selection induces much weaker modular partitioning of traits' genetic correlations in absence then in presence of underlying modular pleiotropy. © 2017 The Author(s). Evolution © 2017 The Society for the Study of Evolution.

  12. Morphological leaf variability in natural populations of Pistacia atlantica Desf. subsp. atlantica along climatic gradient: new features to update Pistacia atlantica subsp. atlantica key.

    PubMed

    El Zerey-Belaskri, Asma; Benhassaini, Hachemi

    2016-04-01

    The effect of bioclimate range on the variation in Pistacia atlantica Desf. subsp. atlantica leaf morphology was studied on 16 sites in Northwest Algeria. The study examined biometrically mature leaves totaling 3520 compound leaves. Fifteen characters (10 quantitative and 5 qualitative) were assessed on each leaf. For each quantitative character, the nested analysis of variance (ANOVA) was used to examine relative magnitude of variation at each level of the nested hierarchy. The correlation between the climatic parameters and the leaf morphology was examined. The statistical analysis applied on the quantitative leaf characters showed highly significant variation at the within-site level and between-site variation. The correlation coefficient (r) showed also an important correlation between climatic parameters and leaf morphology. The results of this study exhibited several values reported for the first time on the species, such as the length and the width of the leaf (reaching up to 24.5 cm/21.9 cm), the number of leaflets (up to 18 leaflets/leaf), and the petiole length of the terminal leaflet (reaching up to 3.4 cm). The original findings of this study are used to update the P. atlantica subsp. atlantica identification key.

  13. Common ecology quantifies human insurgency.

    PubMed

    Bohorquez, Juan Camilo; Gourley, Sean; Dixon, Alexander R; Spagat, Michael; Johnson, Neil F

    2009-12-17

    Many collective human activities, including violence, have been shown to exhibit universal patterns. The size distributions of casualties both in whole wars from 1816 to 1980 and terrorist attacks have separately been shown to follow approximate power-law distributions. However, the possibility of universal patterns ranging across wars in the size distribution or timing of within-conflict events has barely been explored. Here we show that the sizes and timing of violent events within different insurgent conflicts exhibit remarkable similarities. We propose a unified model of human insurgency that reproduces these commonalities, and explains conflict-specific variations quantitatively in terms of underlying rules of engagement. Our model treats each insurgent population as an ecology of dynamically evolving, self-organized groups following common decision-making processes. Our model is consistent with several recent hypotheses about modern insurgency, is robust to many generalizations, and establishes a quantitative connection between human insurgency, global terrorism and ecology. Its similarity to financial market models provides a surprising link between violent and non-violent forms of human behaviour.

  14. Fine-Mapping and Selective Sweep Analysis of QTL for Cold Tolerance in Drosophila melanogaster

    PubMed Central

    Wilches, Ricardo; Voigt, Susanne; Duchen, Pablo; Laurent, Stefan; Stephan, Wolfgang

    2014-01-01

    There is a growing interest in investigating the relationship between genes with signatures of natural selection and genes identified in QTL mapping studies using combined population and quantitative genetics approaches. We dissected an X-linked interval of 6.2 Mb, which contains two QTL underlying variation in chill coma recovery time (CCRT) in Drosophila melanogaster from temperate (European) and tropical (African) regions. This resulted in two relatively small regions of 131 kb and 124 kb. The latter one co-localizes with a very strong selective sweep in the European population. We examined the genes within and near the sweep region individually using gene expression analysis and P-element insertion lines. Of the genes overlapping with the sweep, none appears to be related to CCRT. However, we have identified a new candidate gene of CCRT, brinker, which is located just outside the sweep region and is inducible by cold stress. We discuss these results in light of recent population genetics theories on quantitative traits. PMID:24970882

  15. High within-canopy variation in isoprene emission potentials in temperate trees: Implications for predicting canopy-scale isoprene fluxes

    NASA Astrophysics Data System (ADS)

    Niinemets, ÜLo; Copolovici, Lucian; Hüve, Katja

    2010-12-01

    Isoprene emission potential (ES) varies in tree canopies, and such variations have potentially major implications for predicting canopy level emissions. So far, quantitative relationships of ES with irradiance are missing, and interspecific variation in ES plasticity and potential effects on canopy level emissions have not been characterized. ES, foliage structural, chemical, and photosynthetic characteristics were studied relative to integrated within-canopy daily quantum flux density (Qint) in temperate deciduous tree species Quercus robur, Populus tremula, Salix alba, and Salix caprea, and canopy isoprene emissions were calculated considering observed variation in ES and under different simplifying assumptions. Strong positive curvilinear relationships between nitrogen and dry mass per unit area, photosynthetic potentials and ES per area with Qint were observed. Structural, chemical, and photosynthetic traits varied 1.5-fold to 4-fold and ES per area 3-fold to 27-fold within the canopy. ES variation reflected accumulation of mesophyll cell layers and greater emission capacity of average cells. Species with largest structural and photosynthetic plasticity had greatest plasticity in ES. Relative to the simulation considering within-canopy variation in ES, the bias from assuming a constant ES varied between -8% and +68%, and it scaled positively with ES plasticity. The bias of big-leaf simulations varied between -22% and -35%, and it scaled negatively with ES plasticity. A generalized canopy response function of ES developed for all species resulted in the lowest bias between -11% and 6% and can be recommended for practical applications. The results highlight huge within-canopy and interspecific variation in ES and demonstrate that ignoring these variations strongly biases canopy emission predictions.

  16. The evolution of trade-offs: where are we?

    PubMed

    Roff, D A; Fairbairn, D J

    2007-03-01

    Trade-offs are a core component of many evolutionary models, particularly those dealing with the evolution of life histories. In the present paper, we identify four topics of key importance for studies of the evolutionary biology of trade-offs. First, we consider the underlying concept of 'constraint'. We conclude that this term is typically used too vaguely and suggest that 'constraint' in the sense of a bias should be clearly distinguished from 'constraint' in the sense of proscribed combinations of traits or evolutionary trajectories. Secondly, we address the utility of the acquisition-allocation model (the 'Y-model'). We find that, whereas this model and its derivatives have provided new insights, a misunderstanding of the pivotal equation has led to incorrect predictions and faulty tests. Thirdly, we ask how trade-offs are expected to evolve under directional selection. A quantitative genetic model predicts that, under weak or short-term selection, the intercept will change but the slope will remain constant. Two empirical tests support this prediction but these are based on comparisons of geographic populations: more direct tests will come from artificial selection experiments. Finally, we discuss what maintains variation in trade-offs noting that at present little attention has been given to this question. We distinguish between phenotypic and genetic variation and suggest that the latter is most in need of explanation. We suggest that four factors deserving investigation are mutation-selection balance, antagonistic pleiotropy, correlational selection and spatio-temporal variation, but as in the other areas of research on trade-offs, empirical generalizations are impeded by lack of data. Although this lack is discouraging, we suggest that it provides a rich ground for further study and the integration of many disciplines, including the emerging field of genomics.

  17. Why do some like it hot? Genetic and environmental contributions to the pleasantness of oral pungency.

    PubMed

    Törnwall, Outi; Silventoinen, Karri; Kaprio, Jaakko; Tuorila, Hely

    2012-10-10

    Although potential environmental influences on hedonic responses to oral pungency have been identified, little is known of the possible role of genetics underlying these responses. We explored the contribution of genetic and environmental influences on the pleasantness of oral pungency and spicy foods. Respondents were young adult Finnish twins (n=331, 21-25 years), including 47 complete monozygotic and 93 dizygotic twin pairs and 51 twin individuals without their co-twin. Pleasantness and intensity of strawberry jelly spiked with capsaicin (0.0001% w/v) relative to untainted strawberry jelly were rated. Furthermore, pleasantness of spicy foods and oral pungency caused by spices were rated based on food names in a questionnaire. Respondents were grouped as non-likers, medium-likers, and likers by their pleasantness responses to capsaicin spiked jelly. The contribution of genetic and environmental factors to variation and co-variation of the pleasantness traits was analyzed using quantitative genetic modeling. The non-likers perceived oral pungency as more intense (sensory) and rated pleasantness of spicy foods and pungent sensations caused by spices (questionnaire) as less pleasant than the likers. Genetic factors accounted for 18-58% of the variation in the pleasantness of oral pungency, spicy foods and pungent sensations. The rest was due to environmental factors. All pleasantness traits (sensory and questionnaire based) were shown to share a common genetic variance. This indicates that an underlying genetic aptitude to like oral pungency, and spicy foods exists and it is expressed in these measures. The findings broaden the understanding of the diverse nature of individual food preferences and motivate further search for the underlying genetic components of oral pungency. Copyright © 2012. Published by Elsevier Inc.

  18. Quantitative microbiome profiling links gut community variation to microbial load.

    PubMed

    Vandeputte, Doris; Kathagen, Gunter; D'hoe, Kevin; Vieira-Silva, Sara; Valles-Colomer, Mireia; Sabino, João; Wang, Jun; Tito, Raul Y; De Commer, Lindsey; Darzi, Youssef; Vermeire, Séverine; Falony, Gwen; Raes, Jeroen

    2017-11-23

    Current sequencing-based analyses of faecal microbiota quantify microbial taxa and metabolic pathways as fractions of the sample sequence library generated by each analysis. Although these relative approaches permit detection of disease-associated microbiome variation, they are limited in their ability to reveal the interplay between microbiota and host health. Comparative analyses of relative microbiome data cannot provide information about the extent or directionality of changes in taxa abundance or metabolic potential. If microbial load varies substantially between samples, relative profiling will hamper attempts to link microbiome features to quantitative data such as physiological parameters or metabolite concentrations. Saliently, relative approaches ignore the possibility that altered overall microbiota abundance itself could be a key identifier of a disease-associated ecosystem configuration. To enable genuine characterization of host-microbiota interactions, microbiome research must exchange ratios for counts. Here we build a workflow for the quantitative microbiome profiling of faecal material, through parallelization of amplicon sequencing and flow cytometric enumeration of microbial cells. We observe up to tenfold differences in the microbial loads of healthy individuals and relate this variation to enterotype differentiation. We show how microbial abundances underpin both microbiota variation between individuals and covariation with host phenotype. Quantitative profiling bypasses compositionality effects in the reconstruction of gut microbiota interaction networks and reveals that the taxonomic trade-off between Bacteroides and Prevotella is an artefact of relative microbiome analyses. Finally, we identify microbial load as a key driver of observed microbiota alterations in a cohort of patients with Crohn's disease, here associated with a low-cell-count Bacteroides enterotype (as defined through relative profiling).

  19. Quantitative analysis of scapholunate diastasis using stress speckle-tracking sonography: a proof-of-concept and feasibility study.

    PubMed

    Gondim Teixeira, Pedro Augusto; Badr, Sammy; Hossu, Gabriela; Lefebvre, Guillaume; Abou Arab, Waled; Blum, Alain; Cotten, Anne

    2017-12-01

    To evaluate the feasibility and potential clinical applicability of speckle-tracking sonography for the dynamic evaluation of the scapholunate diastasis during stress manoeuvres. Two readers used speckle tracking sonography to evaluate scapholunate diastasis during a clenching fist manoeuver in 30 normal wrists. Scapholunate peak strain, mean scapholunate diastasis and the diastasis variation coefficient were analysed. IRB exemption was granted for this study. Conventional and stress wrist radiographs of 26 patients with and without a scapholunate ligament tear were retrospectively analysed to ascertain the range of variation in scapholunate diastasis. Speckle-tracking parameters in normal wrists were similar between the two readers (p  > 0.2061). The maximal scapholunate peak strain during stress was relatively low (<0.34-0.47 mm). The normal radiographic diastasis amplitude was similar to maximal strain peak values in normal volunteers (0.49 ± 0.51 mm). The radiographic diastasis amplitude in cases of scapholunate ligament tears was 1.48 ± 0.78 mm, which was higher than the 95% confidence interval of the scapholunate gap peak strain. Speckle-tracking sonography could represent an interesting alternative for stress evaluation of the scapholunate ligament in patients with scapholunate diastasis. • Speckle-tracking sonography can assess scapholunate diastasis under stress testing. • Scapholunate gap shows little variation under stress in healthy volunteers. • Scapholunate gap measurements are influenced by grip strength. • Sex and BMI have a significant influence on strain measurements.

  20. The Social Network of Tracer Variations and O(100) Uncertain Photochemical Parameters in the Community Atmosphere Model

    NASA Astrophysics Data System (ADS)

    Lucas, D. D.; Labute, M.; Chowdhary, K.; Debusschere, B.; Cameron-Smith, P. J.

    2014-12-01

    Simulating the atmospheric cycles of ozone, methane, and other radiatively important trace gases in global climate models is computationally demanding and requires the use of 100's of photochemical parameters with uncertain values. Quantitative analysis of the effects of these uncertainties on tracer distributions, radiative forcing, and other model responses is hindered by the "curse of dimensionality." We describe efforts to overcome this curse using ensemble simulations and advanced statistical methods. Uncertainties from 95 photochemical parameters in the trop-MOZART scheme were sampled using a Monte Carlo method and propagated through 10,000 simulations of the single column version of the Community Atmosphere Model (CAM). The variance of the ensemble was represented as a network with nodes and edges, and the topology and connections in the network were analyzed using lasso regression, Bayesian compressive sensing, and centrality measures from the field of social network theory. Despite the limited sample size for this high dimensional problem, our methods determined the key sources of variation and co-variation in the ensemble and identified important clusters in the network topology. Our results can be used to better understand the flow of photochemical uncertainty in simulations using CAM and other climate models. This work was performed under the auspices of the U.S. Department of Energy by Lawrence Livermore National Laboratory under Contract DE-AC52-07NA27344 and supported by the DOE Office of Science through the Scientific Discovery Through Advanced Computing (SciDAC).

  1. Maltodextrin Acceptance and Preference in Eight Mouse Strains.

    PubMed

    Poole, Rachel L; Aleman, Tiffany R; Ellis, Hillary T; Tordoff, Michael G

    2016-01-01

    Rodents are strongly attracted to the taste(s) of maltodextrins. A first step toward discovery of the underlying genes involves identifying phenotypic differences among inbred strains of mice. To do this, we used 5-s brief-access tests and 48-h 2-bottle choice tests to survey the avidity for the maltodextrin, Maltrin M040, of mice from 8 inbred strains (129S1/SvImJ, A/J, CAST/EiJ, C57BL/6J, NOD/ShiLTJ, NZO/HlLtJ, PWK/PhJ, and WSB/EiJ). In brief-access tests, the CAST and PWK strains licked significantly less maltodextrin than equivalent concentrations of sucrose, whereas the other strains generally licked the 2 carbohydrates equally. Similarly, in 2-bottle choice tests, the CAST and PWK strains drank less 4% maltodextrin than 4% sucrose, whereas the other strains had similar intakes of these 2 solutions; the CAST and PWK strains did not differ from the C57, NOD, or NZO strains in 4% sucrose intake. In sum, we have identified strain variation in maltodextrin perception that is distinct from variation in sucrose perception. The phenotypic variation characterized here will aid in identifying genes responsible for maltodextrin acceptance. Our results identify C57 × PWK mice or NZO × CAST mice as informative crosses to produce segregating hybrids that will expose quantitative trait loci underlying maltodextrin acceptance and preference. © The Author 2015. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  2. Identification of Quantitative Trait Loci (QTL) and Candidate Genes for Cadmium Tolerance in Populus

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

    Induri, Brahma R; Ellis, Danielle R; Slavov, Gancho

    2012-01-01

    Knowledge of genetic variation in response of Populus to heavy metals like cadmium (Cd) is an important step in understanding the underlying mechanisms of tolerance. In this study, a pseudo-backcross pedigree of Populus trichocarpa and Populus deltoides was characterized for Cd exposure. The pedigree showed significant variation for Cd tolerance thus enabling the identification of relatively tolerant and susceptible genotypes for intensive characterization. A total of 16 QTLs at logarithm of odds (LOD) ratio > 2.5, were found to be associated with total dry weight, its components, and root volume. Four major QTLs for total dry weight were mapped tomore » different linkage groups in control (LG III) and Cd conditions (LG XVI) and had opposite allelic effects on Cd tolerance, suggesting that these genomic regions were differentially controlled. The phenotypic variation explained by Cd QTL for all traits under study varied from 5.9% to 11.6% and averaged 8.2% across all QTL. Leaf Cd contents also showed significant variation suggesting the phytoextraction potential of Populus genotypes, though heritability of this trait was low (0.22). A whole-genome microarray study was conducted by using two genotypes with extreme responses for Cd tolerance in the above study and differentially expressed genes were identified. Candidate genes including CAD2 (CADMIUM SENSITIVE 2), HMA5 (HEAVY METAL ATPase5), ATGTST1 (Arabidopsis thaliana Glutathione S-Transferase1), ATGPX6 (Glutathione peroxidase 6), and ATMRP 14 (Arabidopsis thaliana Multidrug Resistance associated Protein 14) were identified from QTL intervals and microarray study. Functional characterization of these candidate genes could enhance phytoremediation capabilities of Populus.« less

  3. Highly variable sperm precedence in the stalk-eyed fly, Teleopsis dalmanni

    PubMed Central

    Corley, Laura S; Cotton, Samuel; McConnell, Ellen; Chapman, Tracey; Fowler, Kevin; Pomiankowski, Andrew

    2006-01-01

    Background When females mate with different males, competition for fertilizations occurs after insemination. Such sperm competition is usually summarized at the level of the population or species by the parameter, P2, defined as the proportion of offspring sired by the second male in double mating trials. However, considerable variation in P2 may occur within populations, and such variation limits the utility of population-wide or species P2 estimates as descriptors of sperm usage. To fully understand the causes and consequences of sperm competition requires estimates of not only mean P2, but also intra-specific variation in P2. Here we investigate within-population quantitative variation in P2 using a controlled mating experiment and microsatellite profiling of progeny in the multiply mating stalk-eyed fly, Teleopsis dalmanni. Results We genotyped 381 offspring from 22 dam-sire pair families at four microsatellite loci. The mean population-wide P2 value of 0.40 was not significantly different from that expected under random sperm mixing (i.e. P2 = 0.5). However, patterns of paternity were highly variable between individual families; almost half of families displayed extreme second male biases resulting in zero or complete paternity, whereas only about one third of families had P2 values of 0.5, the remainder had significant, but moderate, paternity skew. Conclusion Our data suggest that all modes of ejaculate competition, from extreme sperm precedence to complete sperm mixing, occur in T. dalmanni. Thus the population mean P2 value does not reflect the high underlying variance in familial P2. We discuss some of the potential causes and consequences of post-copulatory sexual selection in this important model species. PMID:16800877

  4. Quantitative genetics of circulating Hyaluronic Acid (HA) and its correlation with hand osteoarthritis and obesity-related phenotypes in a community-based sample.

    PubMed

    Prakash, Jai; Gabdulina, Gulzhan; Trofimov, Svetlana; Livshits, Gregory

    2017-09-01

    One of the potential molecular biomarkers of osteoarthritis (OA) is hyaluronic acid (HA). HA levels may be related to the severity and progression of OA. However, little is known about the contribution of major risk factors for osteoarthritis, e.g. obesity-related phenotypes and genetics to HA variation. To clarify the quantitative effect of these factors on HA. An ethnically homogeneous sample of 911 apparently healthy European-derived individuals, assessed for radiographic hand osteoarthritis (RHOA), HA, leptin, adiponectin, and several anthropometrical measures of obesity-related phenotypes was studied. Model-based quantitative genetic analysis was used to reveal genetic and shared environmental factors affecting the variation of the study's phenotypes. The HA levels significantly correlated with the age, RHOA, adiponectin, obesity-related phenotypes, and the waist-to-hip ratio. The putative genetic effects contributed significantly to the variation of HA (66.2 ± 9.3%) and they were also significant factors in the variations of all the other studied phenotypes, with the heritability estimate ranging between 0.122 ± 4.4% (WHR) and 45.7 ± 2.2% (joint space narrowing). This is the first study to report heritability estimates of HA variation and its correlation with obesity-related phenotypes, ADP and RHOA. However, the nature of genetic effects on HA and its correlation with other study phenotypes require further clarification.

  5. Quantitatively differentiating microstructural variations of skeletal muscle tissues by multispectral Mueller matrix imaging

    NASA Astrophysics Data System (ADS)

    Dong, Yang; He, Honghui; He, Chao; Ma, Hui

    2016-10-01

    Polarized light is sensitive to the microstructures of biological tissues and can be used to detect physiological changes. Meanwhile, spectral features of the scattered light can also provide abundant microstructural information of tissues. In this paper, we take the backscattering polarization Mueller matrix images of bovine skeletal muscle tissues during the 24-hour experimental time, and analyze their multispectral behavior using quantitative Mueller matrix parameters. In the processes of rigor mortis and proteolysis of muscle samples, multispectral frequency distribution histograms (FDHs) of the Mueller matrix elements can reveal rich qualitative structural information. In addition, we analyze the temporal variations of the sample using the multispectral Mueller matrix transformation (MMT) parameters. The experimental results indicate that the different stages of rigor mortis and proteolysis for bovine skeletal muscle samples can be judged by these MMT parameters. The results presented in this work show that combining with the multispectral technique, the FDHs and MMT parameters can characterize the microstructural variation features of skeletal muscle tissues. The techniques have the potential to be used as tools for quantitative assessment of meat qualities in food industry.

  6. Little effect of HSP90 inhibition on the quantitative wing traits variation in Drosophila melanogaster.

    PubMed

    Takahashi, Kazuo H

    2017-02-01

    Drosophila wings have been a model system to study the effect of HSP90 on quantitative trait variation. The effect of HSP90 inhibition on environmental buffering of wing morphology varies among studies while the genetic buffering effect of it was examined in only one study and was not detected. Variable results so far might show that the genetic background influences the environmental and genetic buffering effect of HSP90. In the previous studies, the number of the genetic backgrounds used is limited. To examine the effect of HSP90 inhibition with a larger number of genetic backgrounds than the previous studies, 20 wild-type strains of Drosophila melanogaster were used in this study. Here I investigated the effect of HSP90 inhibition on the environmental buffering of wing shape and size by assessing within-individual and among-individual variations, and as a result, I found little or very weak effects on environmental and genetic buffering. The current results suggest that the role of HSP90 as a global regulator of environmental and genetic buffering is limited at least in quantitative traits.

  7. Flow cytometric immunobead assay for quantitative detection of platelet autoantibodies in immune thrombocytopenia patients.

    PubMed

    Zhai, Juping; Ding, Mengyuan; Yang, Tianjie; Zuo, Bin; Weng, Zhen; Zhao, Yunxiao; He, Jun; Wu, Qingyu; Ruan, Changgeng; He, Yang

    2017-10-23

    Platelet autoantibody detection is critical for immune thrombocytopenia (ITP) diagnosis and prognosis. Therefore, we aimed to establish a quantitative flow cytometric immunobead assay (FCIA) for ITP platelet autoantibodies evaluation. Capture microbeads coupled with anti-GPIX, -GPIb, -GPIIb, -GPIIIa and P-selectin antibodies were used to bind the platelet-bound autoantibodies complex generated from plasma samples of 250 ITP patients, 163 non-ITP patients and 243 healthy controls, a fluorescein isothiocyanate (FITC)-conjugated secondary antibody was the detector reagent and mean fluorescence intensity (MFI) signals were recorded by flow cytometry. Intra- and inter-assay variations of the quantitative FCIA assay were assessed. Comparisons of the specificity, sensitivity and accuracy between quantitative and qualitative FCIA or monoclonal antibody immobilization of platelet antigen (MAIPA) assay were performed. Finally, treatment process was monitored by our quantitative FCIA in 8 newly diagnosed ITPs. The coefficient of variations (CV) of the quantitative FCIA assay were respectively 9.4, 3.8, 5.4, 5.1 and 5.8% for anti-GPIX, -GPIb, -GPIIIa, -GPIIb and -P-selectin autoantibodies. Elevated levels of autoantibodies against platelet glycoproteins GPIX, GPIb, GPIIIa, GPIIb and P-selectin were detected by our quantitative FCIA in ITP patients compared to non-ITP patients or healthy controls. The sensitivity, specificity and accuracy of our quantitative assay were respectively 73.13, 81.98 and 78.65% when combining all 5 autoantibodies, while the sensitivity, specificity and accuracy of MAIPA assay were respectively 41.46, 90.41 and 72.81%. A quantitative FCIA assay was established. Reduced levels of platelet autoantibodies could be confirmed by our quantitative FCIA in ITP patients after corticosteroid treatment. Our quantitative assay is not only good for ITP diagnosis but also for ITP treatment monitoring.

  8. Compatibility of breeding for increased wood production and longterm sustainability: the genetic variation of seed orchard seed and associated risks.

    Treesearch

    R Johnson; S. Lipow

    2002-01-01

    Because breeding imposes strong artificial selection for a narrow suite of economically important traits, genetic variation is reduced in seedlings derived from operational seed orchards. Both quantitative genetics theory and studies of allozyme variation show that seed orchards contain most of the genetic diversity found in natural populations, although low-frequency...

  9. Genetic and agronomic assessment of cob traits in corn under low and normal nitrogen management conditions.

    PubMed

    Jansen, Constantin; Zhang, Yongzhong; Liu, Hongjun; Gonzalez-Portilla, Pedro J; Lauter, Nick; Kumar, Bharath; Trucillo-Silva, Ignacio; Martin, Juan Pablo San; Lee, Michael; Simcox, Kevin; Schussler, Jeff; Dhugga, Kanwarpal; Lübberstedt, Thomas

    2015-07-01

    Exploring and understanding the genetic basis of cob biomass in relation to grain yield under varying nitrogen management regimes will help breeders to develop dual-purpose maize. With rising energy demands and costs for fossil fuels, alternative energy from renewable sources such as maize cobs will become competitive. Maize cobs have beneficial characteristics for utilization as feedstock including compact tissue, high cellulose content, and low ash and nitrogen content. Nitrogen is quantitatively the most important nutrient for plant growth. However, the influence of nitrogen fertilization on maize cob production is unclear. In this study, quantitative trait loci (QTL) have been analyzed for cob morphological traits such as cob weight, volume, length, diameter and cob tissue density, and grain yield under normal and low nitrogen regimes. 213 doubled-haploid lines of the intermated B73 × Mo17 (IBM) Syn10 population have been resequenced for 8575 bins, based on SNP markers. A total of 138 QTL were found for six traits across six trials using composite interval mapping with ten cofactors and empirical comparison-wise thresholds (P = 0.001). Despite moderate to high repeatabilities across trials, few QTL were consistent across trials and overall levels of explained phenotypic variance were lower than expected some of the cob trait × trial combinations (R (2) = 7.3-43.1 %). Variation for cob traits was less affected by nitrogen conditions than by grain yield. Thus, the economics of cob usage under low nitrogen regimes is promising.

  10. Exploration of Use of Copulas in Analysing the Relationship between Precipitation and Meteorological Drought in Beijing, China

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

    Fan, Linlin; Wang, Hongrui; Wang, Cheng

    Drought risk analysis is essential for regional water resource management. In this study, the probabilistic relationship between precipitation and meteorological drought in Beijing, China, was calculated under three different precipitation conditions (precipitation equal to, greater than, or less than a threshold) based on copulas. The Standardized Precipitation Evapotranspiration Index (SPEI) was calculated based on monthly total precipitation and monthly mean temperature data. The trends and variations in the SPEI were analysed using Hilbert-Huang Transform (HHT) and Mann-Kendall (MK) trend tests with a running approach. The results of the HHT and MK test indicated a significant decreasing trend in the SPEI.more » The copula-based conditional probability indicated that the probability of meteorological drought decreased as monthly precipitation increased and that 10 mm can be regarded as the threshold for triggering extreme drought. From a quantitative perspective, when R ≤ mm, the probabilities of moderate drought, severe drought, and extreme drought were 22.1%, 18%, and 13.6%, respectively. This conditional probability distribution not only revealed the occurrence of meteorological drought in Beijing but also provided a quantitative way to analyse the probability of drought under different precipitation conditions. Furthermore, the results provide a useful reference for future drought prediction.« less

  11. Exploration of Use of Copulas in Analysing the Relationship between Precipitation and Meteorological Drought in Beijing, China

    DOE PAGES

    Fan, Linlin; Wang, Hongrui; Wang, Cheng; ...

    2017-05-16

    Drought risk analysis is essential for regional water resource management. In this study, the probabilistic relationship between precipitation and meteorological drought in Beijing, China, was calculated under three different precipitation conditions (precipitation equal to, greater than, or less than a threshold) based on copulas. The Standardized Precipitation Evapotranspiration Index (SPEI) was calculated based on monthly total precipitation and monthly mean temperature data. The trends and variations in the SPEI were analysed using Hilbert-Huang Transform (HHT) and Mann-Kendall (MK) trend tests with a running approach. The results of the HHT and MK test indicated a significant decreasing trend in the SPEI.more » The copula-based conditional probability indicated that the probability of meteorological drought decreased as monthly precipitation increased and that 10 mm can be regarded as the threshold for triggering extreme drought. From a quantitative perspective, when R ≤ mm, the probabilities of moderate drought, severe drought, and extreme drought were 22.1%, 18%, and 13.6%, respectively. This conditional probability distribution not only revealed the occurrence of meteorological drought in Beijing but also provided a quantitative way to analyse the probability of drought under different precipitation conditions. Furthermore, the results provide a useful reference for future drought prediction.« less

  12. DWI-based neural fingerprinting technology: a preliminary study on stroke analysis.

    PubMed

    Ye, Chenfei; Ma, Heather Ting; Wu, Jun; Yang, Pengfei; Chen, Xuhui; Yang, Zhengyi; Ma, Jingbo

    2014-01-01

    Stroke is a common neural disorder in neurology clinics. Magnetic resonance imaging (MRI) has become an important tool to assess the neural physiological changes under stroke, such as diffusion weighted imaging (DWI) and diffusion tensor imaging (DTI). Quantitative analysis of MRI images would help medical doctors to localize the stroke area in the diagnosis in terms of structural information and physiological characterization. However, current quantitative approaches can only provide localization of the disorder rather than measure physiological variation of subtypes of ischemic stroke. In the current study, we hypothesize that each kind of neural disorder would have its unique physiological characteristics, which could be reflected by DWI images on different gradients. Based on this hypothesis, a DWI-based neural fingerprinting technology was proposed to classify subtypes of ischemic stroke. The neural fingerprint was constructed by the signal intensity of the region of interest (ROI) on the DWI images under different gradients. The fingerprint derived from the manually drawn ROI could classify the subtypes with accuracy 100%. However, the classification accuracy was worse when using semiautomatic and automatic method in ROI segmentation. The preliminary results showed promising potential of DWI-based neural fingerprinting technology in stroke subtype classification. Further studies will be carried out for enhancing the fingerprinting accuracy and its application in other clinical practices.

  13. Boltzmann, Darwin and Directionality theory

    NASA Astrophysics Data System (ADS)

    Demetrius, Lloyd A.

    2013-09-01

    Boltzmann’s statistical thermodynamics is a mathematical theory which relates the macroscopic properties of aggregates of interacting molecules with the laws of their interaction. The theory is based on the concept thermodynamic entropy, a statistical measure of the extent to which energy is spread throughout macroscopic matter. Macroscopic evolution of material aggregates is quantitatively explained in terms of the principle: Thermodynamic entropy increases as the composition of the aggregate changes under molecular collision. Darwin’s theory of evolution is a qualitative theory of the origin of species and the adaptation of populations to their environment. A central concept in the theory is fitness, a qualitative measure of the capacity of an organism to contribute to the ancestry of future generations. Macroscopic evolution of populations of living organisms can be qualitatively explained in terms of a neo-Darwinian principle: Fitness increases as the composition of the population changes under variation and natural selection. Directionality theory is a quantitative model of the Darwinian argument of evolution by variation and selection. This mathematical theory is based on the concept evolutionary entropy, a statistical measure which describes the rate at which an organism appropriates energy from the environment and reinvests this energy into survivorship and reproduction. According to directionality theory, microevolutionary dynamics, that is evolution by mutation and natural selection, can be quantitatively explained in terms of a directionality principle: Evolutionary entropy increases when the resources are diverse and of constant abundance; but decreases when the resource is singular and of variable abundance. This report reviews the analytical and empirical support for directionality theory, and invokes the microevolutionary dynamics of variation and selection to delineate the principles which govern macroevolutionary dynamics of speciation and extinction. We also elucidate the relation between thermodynamic entropy, which pertains to the extent of energy spreading and sharing within inanimate matter, and evolutionary entropy, which refers to the rate of energy appropriation from the environment and allocation within living systems. We show that the entropic principle of thermodynamics is the limit as R→0, M→∞, (where R denote the resource production rate, and M denote population size) of the entropic principle of evolution. We exploit this relation between the thermodynamic and evolutionary tenets to propose a physico-chemical model of the transition from inanimate matter which is under thermodynamic selection, to living systems which are subject to evolutionary selection. Life history variation and the evolution of senescence The evolutionary dynamics of speciation and extinction Evolutionary trends in body size. The origin of sporadic forms of cancer and neurological diseases, and the evolution of cooperation are important recent applications of directionality theory. These applications, which draw from the medical sciences and sociobiology, appeal to methods which lie outside the formalism described in this report. A companion review, Demetrius and Gundlach (submitted for publication), gives an account of these applications.An important aspect of this report pertains to the connection between statistical mechanics and evolutionary theory and its implications towards understanding the processes which underlie the emergence of living systems from inanimate matter-a problem which has recently attracted considerable attention, Morowitz (1992), Eigen (1992), Dyson (2000), Pross (2012).The connection between the two disciplines can be addressed by appealing to certain extremal principles which are considered the mainstay of the respective theories.The extremal principle in statistical mechanics can be stated as follows:

  14. Relative quantitative PCR to assess bacterial community dynamics during biodegradation of diesel and biodiesel fuels under various aeration conditions.

    PubMed

    Cyplik, Paweł; Schmidt, Marcin; Szulc, Alicja; Marecik, Roman; Lisiecki, Piotr; Heipieper, Hermann J; Owsianiak, Mikołaj; Vainshtein, Mikhail; Chrzanowski, Łukasz

    2011-03-01

    The degradation of diesel fuel, B20 blend and biodiesel in liquid cultures by a seven-member bacterial consortium was compared under conditions with full aeration or with limited aeration with nitrate added as main electron acceptor. Community dynamics was assessed employing real-time PCR and the ddCt method for relative quantification. Biodegradation rates increased with increasing biodiesel content, but were significantly reduced under conditions with nitrate. Despite large variations in biodegradation rates, magnitude changes in population numbers were typically observed only from zero to one order, regardless the type of fuel and electron acceptor. Only Comamonadaceae and Variovorax sp. distinctly preferred aerobic conditions, and during aerobic growth showed suppression as fuel contained more biodiesel. Thus, the consortium is relatively stable and most of the degraders can shift their metabolism from hydrocarbons to biodiesel. The stability of the consortium is of interest in the context of biodiesel-mediated biodegradation of petroleum hydrocarbons. Copyright © 2010 Elsevier Ltd. All rights reserved.

  15. Spatial Variation in Mobility-Lifetime Product in Bulk TlBr and CZT

    NASA Astrophysics Data System (ADS)

    Phillips, David; Haegel, Nancy; Blaine, Kevin; Kim, Hadong; Ciampi, Guido; Cirignano, Len

    2012-02-01

    The energy resolution of a semiconductor radiation detector depends on the charge transport properties of the semiconductor, and the mobility-lifetime (μτ) product is a key figure of merit for charge transport. In this work, we investigate the effects of two impurities, Na and Cu, on the μτ product in bulk thallium bromide (TlBr) using cathodoluminescence (CL) and transport imaging. Transport imaging uses a scanning electron microscope to generate a line of charge carriers on the surface of a bulk sample, and the intensity and spatial distribution of the recombination luminescence are recorded. A Green's function approach is used to model the generation, diffusion, and recombination of charge carriers under steady-state conditions. The luminescence distribution is fit to the model to extract the ambipolar diffusion length and the μτ product, providing a high-resolution correlation between the luminescence variations due to dopants/defects and the quantitative transport behavior. The μτ product has been mapped across a 40 μm segment of TlBr at a resolution of 2 μm. Additionally, this approach has been used to locally map variations in ambipolar diffusion length and μτ product due to extended defects in cadmium zinc telluride (CZT).

  16. Evolutionary genetics of maternal effects

    PubMed Central

    Wolf, Jason B.; Wade, Michael J.

    2016-01-01

    Maternal genetic effects (MGEs), where genes expressed by mothers affect the phenotype of their offspring, are important sources of phenotypic diversity in a myriad of organisms. We use a single‐locus model to examine how MGEs contribute patterns of heritable and nonheritable variation and influence evolutionary dynamics in randomly mating and inbreeding populations. We elucidate the influence of MGEs by examining the offspring genotype‐phenotype relationship, which determines how MGEs affect evolutionary dynamics in response to selection on offspring phenotypes. This approach reveals important results that are not apparent from classic quantitative genetic treatments of MGEs. We show that additive and dominance MGEs make different contributions to evolutionary dynamics and patterns of variation, which are differentially affected by inbreeding. Dominance MGEs make the offspring genotype‐phenotype relationship frequency dependent, resulting in the appearance of negative frequency‐dependent selection, while additive MGEs contribute a component of parent‐of‐origin dependent variation. Inbreeding amplifies the contribution of MGEs to the additive genetic variance and, therefore enhances their evolutionary response. Considering evolutionary dynamics of allele frequency change on an adaptive landscape, we show that this landscape differs from the mean fitness surface, and therefore, under some condition, fitness peaks can exist but not be “available” to the evolving population. PMID:26969266

  17. The efficiency of close inbreeding to reduce genetic adaptation to captivity

    PubMed Central

    Theodorou, K; Couvet, D

    2015-01-01

    Although ex situ conservation is indispensable for thousands of species, captive breeding is associated with negative genetic changes: loss of genetic variance and genetic adaptation to captivity that is deleterious in the wild. We used quantitative genetic individual-based simulations to model the effect of genetic management on the evolution of a quantitative trait and the associated fitness of wild-born individuals that are brought to captivity. We also examined the feasibility of the breeding strategies under a scenario of a large number of loci subject to deleterious mutations. We compared two breeding strategies: repeated half-sib mating and a method of minimizing mean coancestry (referred to as gc/mc). Our major finding was that half-sib mating is more effective in reducing genetic adaptation to captivity than the gc/mc method. Moreover, half-sib mating retains larger allelic and adaptive genetic variance. Relative to initial standing variation, the additive variance of the quantitative trait increased under half-sib mating during the sojourn in captivity. Although fragmentation into smaller populations improves the efficiency of the gc/mc method, half-sib mating still performs better in the scenarios tested. Half-sib mating shows two caveats that could mitigate its beneficial effects: low heterozygosity and high risk of extinction when populations are of low fecundity and size and one of the following conditions are met: (i) the strength of selection in captivity is comparable with that in the wild, (ii) deleterious mutations are numerous and only slightly deleterious. Experimental validation of half-sib mating is therefore needed for the advancement of captive breeding programs. PMID:25052417

  18. Salt Stress Induced Variation in DNA Methylation Pattern and Its Influence on Gene Expression in Contrasting Rice Genotypes

    PubMed Central

    Karan, Ratna; DeLeon, Teresa; Biradar, Hanamareddy; Subudhi, Prasanta K.

    2012-01-01

    Background Salinity is a major environmental factor limiting productivity of crop plants including rice in which wide range of natural variability exists. Although recent evidences implicate epigenetic mechanisms for modulating the gene expression in plants under environmental stresses, epigenetic changes and their functional consequences under salinity stress in rice are underexplored. DNA methylation is one of the epigenetic mechanisms regulating gene expression in plant’s responses to environmental stresses. Better understanding of epigenetic regulation of plant growth and response to environmental stresses may create novel heritable variation for crop improvement. Methodology/Principal Findings Methylation sensitive amplification polymorphism (MSAP) technique was used to assess the effect of salt stress on extent and patterns of DNA methylation in four genotypes of rice differing in the degree of salinity tolerance. Overall, the amount of DNA methylation was more in shoot compared to root and the contribution of fully methylated loci was always more than hemi-methylated loci. Sequencing of ten randomly selected MSAP fragments indicated gene-body specific DNA methylation of retrotransposons, stress responsive genes, and chromatin modification genes, distributed on different rice chromosomes. Bisulphite sequencing and quantitative RT-PCR analysis of selected MSAP loci showed that cytosine methylation changes under salinity as well as gene expression varied with genotypes and tissue types irrespective of the level of salinity tolerance of rice genotypes. Conclusions/Significance The gene body methylation may have an important role in regulating gene expression in organ and genotype specific manner under salinity stress. Association between salt tolerance and methylation changes observed in some cases suggested that many methylation changes are not “directed”. The natural genetic variation for salt tolerance observed in rice germplasm may be independent of the extent and pattern of DNA methylation which may have been induced by abiotic stress followed by accumulation through the natural selection process. PMID:22761959

  19. Resist heating effect on e-beam mask writing at 75 kV and 60 A/cm2

    NASA Astrophysics Data System (ADS)

    Benes, Zdenek; Deverich, Christina; Huang, Chester; Lawliss, Mark

    2003-12-01

    Resist heating has been known to be one of the main contributors to local CD variation in mask patterning using variable shape e-beam tools. Increasingly complex mask patterns require increased number of shapes which drives the need for higher electron beam current densities to maintain reasonable write times. As beam current density is increased, CD error resulting from resist heating may become a dominating contributor to local CD variations. In this experimental study, the IBM EL4+ mask writer with high voltage and high current density has been used to quantitatively investigate the effect of resist heating on the local CD uniformity. ZEP 7000 and several chemically amplified resists have been evaluated under various exposure conditions (single-pass, multi-pass, variable spot size) and pattern densities. Patterns were designed specifically to allow easy measurement of local CD variations with write strategies designed to maximize the effect of resist heating. Local CD variations as high as 15 nm in 18.75 × 18.75 μm sub-field size have been observed for ZEP 7000 in a single-pass writing with full 1000 nm spots at 50% pattern density. This number can be reduced by increasing the number of passes or by decreasing the maximum spot size. The local CD variation has been reduced to as low as 2 nm for ZEP 7000 for the same pattern under modified exposure conditions. The effectiveness of various writing strategies is discussed as well as their possible deficiencies. Minimal or no resist heating effects have been observed for the chemically amplified resists studied. The results suggest that the resist heating effect can be well controlled by careful selection of the resist/process system and/or writing strategy and that resist heating does not have to pose a problem for high throughput e-beam mask making that requires high voltage and high current densities.

  20. Quantitative Imaging in Cancer Evolution and Ecology

    PubMed Central

    Grove, Olya; Gillies, Robert J.

    2013-01-01

    Cancer therapy, even when highly targeted, typically fails because of the remarkable capacity of malignant cells to evolve effective adaptations. These evolutionary dynamics are both a cause and a consequence of cancer system heterogeneity at many scales, ranging from genetic properties of individual cells to large-scale imaging features. Tumors of the same organ and cell type can have remarkably diverse appearances in different patients. Furthermore, even within a single tumor, marked variations in imaging features, such as necrosis or contrast enhancement, are common. Similar spatial variations recently have been reported in genetic profiles. Radiologic heterogeneity within tumors is usually governed by variations in blood flow, whereas genetic heterogeneity is typically ascribed to random mutations. However, evolution within tumors, as in all living systems, is subject to Darwinian principles; thus, it is governed by predictable and reproducible interactions between environmental selection forces and cell phenotype (not genotype). This link between regional variations in environmental properties and cellular adaptive strategies may permit clinical imaging to be used to assess and monitor intratumoral evolution in individual patients. This approach is enabled by new methods that extract, report, and analyze quantitative, reproducible, and mineable clinical imaging data. However, most current quantitative metrics lack spatialness, expressing quantitative radiologic features as a single value for a region of interest encompassing the whole tumor. In contrast, spatially explicit image analysis recognizes that tumors are heterogeneous but not well mixed and defines regionally distinct habitats, some of which appear to harbor tumor populations that are more aggressive and less treatable than others. By identifying regional variations in key environmental selection forces and evidence of cellular adaptation, clinical imaging can enable us to define intratumoral Darwinian dynamics before and during therapy. Advances in image analysis will place clinical imaging in an increasingly central role in the development of evolution-based patient-specific cancer therapy. © RSNA, 2013 PMID:24062559

  1. Variations in Cathodoluminescent Intensity of Spacecraft Materials Exposed to Energetic Electron Bombardment

    NASA Technical Reports Server (NTRS)

    Dekany, Justin; Christensen, Justin; Dennison, J. R.; Jensen, Amberly Evans; Wilson, Gregory; Schneider, Todd; Bowers, Charles W.; Meloy, Robert

    2015-01-01

    Many contemporary spacecraft materials exhibit cathodoluminescence when exposed to electron flux from the space plasma environment. A quantitative, physics-based model has been developed to predict the intensity of the total glow as a function of incident electron current density and energy, temperature, and intrinsic material properties. We present a comparative study of the absolute spectral radiance for more than 20 types of dielectric and composite materials based on this model which spans more than three orders of magnitude. Variations in intensity are contrasted for different electron environments, different sizes of samples and sample sets, different testing and analysis methods, and data acquired at different test facilities. Together, these results allow us to estimate the accuracy and precision to which laboratory studies may be able to determine the response of spacecraft materials in the actual space environment. It also provides guidance as to the distribution of emissions that may be expected for sets of similar flight hardware under similar environmental conditions.

  2. Variations in Cathodoluminescent Intensity of Spacecraft Materials Exposed to Energetic Electron Bombardment

    NASA Technical Reports Server (NTRS)

    Dekany, Justin; Christensen, Justin; Dennison, J. R.; Jensen, Amberly Evans; Wilson, Gregory; Schneider, Todd A.; Bowers, Charles W.; Meloy, Robert

    2014-01-01

    Many contemporary spacecraft materials exhibit cathodoluminescence when exposed to electron flux from the space plasma environment. A quantitative, physics-based model has been developed to predict the intensity of the glow as a function of incident electron current density and energy, temperature, and intrinsic material properties. We present a comparative study of the absolute spectral radiance for several types of dielectric and composite materials based on this model which spans three orders of magnitude. Variations in intensity are contrasted for different electron environments, different sizes of samples and sample sets, different testing and analysis methods, and data acquired at different test facilities. Together, these results allow us to estimate the accuracy and precision to which laboratory studies may be able to determine the response of spacecraft materials in the actual space environment. It also provides guidance as to the distribution of emissions that may be expected for sets of similar flight hardware under similar environmental conditions.

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

    Wang, Xusheng; Pandey, Ashutosh K.; Mulligan, Megan K.

    Phenome-wide association is a novel reverse genetic strategy to analyze genome-to-phenome relations in human clinical cohorts. Here we test this approach using a large murine population segregating for ~5 million sequence variants, and we compare our results to those extracted from a matched analysis of gene variants in a large human cohort. For the mouse cohort, we amassed a deep and broad open-access phenome consisting of ~4,500 metabolic, physiological, pharmacological and behavioural traits, and more than 90 independent expression quantitative trait locus (QTL), transcriptome, proteome, metagenome and metabolome data sets-by far the largest coherent phenome for any experimental cohort (www.genenetwork.org).more » Here, we tested downstream effects of subsets of variants and discovered several novel associations, including a missense mutation in fumarate hydratase that controls variation in the mitochondrial unfolded protein response in both mouse and Caenorhabditis elegans, and missense mutations in Col6a5 that underlies variation in bone mineral density in both mouse and human.« less

  4. Explaining the Timing of Natural Scene Understanding with a Computational Model of Perceptual Categorization

    PubMed Central

    Sofer, Imri; Crouzet, Sébastien M.; Serre, Thomas

    2015-01-01

    Observers can rapidly perform a variety of visual tasks such as categorizing a scene as open, as outdoor, or as a beach. Although we know that different tasks are typically associated with systematic differences in behavioral responses, to date, little is known about the underlying mechanisms. Here, we implemented a single integrated paradigm that links perceptual processes with categorization processes. Using a large image database of natural scenes, we trained machine-learning classifiers to derive quantitative measures of task-specific perceptual discriminability based on the distance between individual images and different categorization boundaries. We showed that the resulting discriminability measure accurately predicts variations in behavioral responses across categorization tasks and stimulus sets. We further used the model to design an experiment, which challenged previous interpretations of the so-called “superordinate advantage.” Overall, our study suggests that observed differences in behavioral responses across rapid categorization tasks reflect natural variations in perceptual discriminability. PMID:26335683

  5. Joint mouse–human phenome-wide association to test gene function and disease risk

    DOE PAGES

    Wang, Xusheng; Pandey, Ashutosh K.; Mulligan, Megan K.; ...

    2016-02-02

    Phenome-wide association is a novel reverse genetic strategy to analyze genome-to-phenome relations in human clinical cohorts. Here we test this approach using a large murine population segregating for ~5 million sequence variants, and we compare our results to those extracted from a matched analysis of gene variants in a large human cohort. For the mouse cohort, we amassed a deep and broad open-access phenome consisting of ~4,500 metabolic, physiological, pharmacological and behavioural traits, and more than 90 independent expression quantitative trait locus (QTL), transcriptome, proteome, metagenome and metabolome data sets-by far the largest coherent phenome for any experimental cohort (www.genenetwork.org).more » Here, we tested downstream effects of subsets of variants and discovered several novel associations, including a missense mutation in fumarate hydratase that controls variation in the mitochondrial unfolded protein response in both mouse and Caenorhabditis elegans, and missense mutations in Col6a5 that underlies variation in bone mineral density in both mouse and human.« less

  6. Global solar wind variations over the last four centuries.

    PubMed

    Owens, M J; Lockwood, M; Riley, P

    2017-01-31

    The most recent "grand minimum" of solar activity, the Maunder minimum (MM, 1650-1710), is of great interest both for understanding the solar dynamo and providing insight into possible future heliospheric conditions. Here, we use nearly 30 years of output from a data-constrained magnetohydrodynamic model of the solar corona to calibrate heliospheric reconstructions based solely on sunspot observations. Using these empirical relations, we produce the first quantitative estimate of global solar wind variations over the last 400 years. Relative to the modern era, the MM shows a factor 2 reduction in near-Earth heliospheric magnetic field strength and solar wind speed, and up to a factor 4 increase in solar wind Mach number. Thus solar wind energy input into the Earth's magnetosphere was reduced, resulting in a more Jupiter-like system, in agreement with the dearth of auroral reports from the time. The global heliosphere was both smaller and more symmetric under MM conditions, which has implications for the interpretation of cosmogenic radionuclide data and resulting total solar irradiance estimates during grand minima.

  7. Genetic dissection of acetic acid tolerance in Saccharomyces cerevisiae.

    PubMed

    Geng, Peng; Xiao, Yin; Hu, Yun; Sun, Haiye; Xue, Wei; Zhang, Liang; Shi, Gui-Yang

    2016-09-01

    Dissection of the hereditary architecture underlying Saccharomyces cerevisiae tolerance to acetic acid is essential for ethanol fermentation. In this work, a genomics approach was used to dissect hereditary variations in acetic acid tolerance between two phenotypically different strains. A total of 160 segregants derived from these two strains were obtained. Phenotypic analysis indicated that the acetic acid tolerance displayed a normal distribution in these segregants, and suggested that the acetic acid tolerant traits were controlled by multiple quantitative trait loci (QTLs). Thus, 220 SSR markers covering the whole genome were used to detect QTLs of acetic acid tolerant traits. As a result, three QTLs were located on chromosomes 9, 12, and 16, respectively, which explained 38.8-65.9 % of the range of phenotypic variation. Furthermore, twelve genes of the candidates fell into the three QTL regions by integrating the QTL analysis with candidates of acetic acid tolerant genes. These results provided a novel avenue to obtain more robust strains.

  8. Effects of pipette modulation and imaging distances on ion currents measured with scanning ion conductance microscopy (SICM).

    PubMed

    Chen, Chiao-Chen; Baker, Lane A

    2011-01-07

    Local conductance variations can be estimated by measuring ion current magnitudes with scanning ion conductance microscopy (SICM). Factors which influence image quality and quantitation of ion currents measured with SICM have been evaluated. Specifically, effects of probe-sample separation and pipette modulation have been systematically studied for the case of imaging conductance variations at pores in a polymer membrane under transmembrane concentration gradients. The influence of probe-sample separation on ion current images was evaluated using distance-modulated (ac) feedback. Approach curves obtained using non-modulated (dc) feedback were also recorded to determine the relative influence of pipette-generated convection by comparison of ion currents measured with both ac and dc feedback modes. To better interpret results obtained, comparison to a model based on a disk-shaped geometry for nanopores in the membrane, as well as relevant position-dependent parameters of the experiment is described. These results advance our current understanding of conductance measurements with SICM.

  9. Curvature-induced stiffness and the spatial variation of wavelength in wrinkled sheets

    PubMed Central

    Hohlfeld, Evan; King, Hunter; Huang, Jiangshui; Qiu, Zhanlong; Russell, Thomas P.; Menon, Narayanan; Vella, Dominic; Davidovitch, Benny

    2016-01-01

    Wrinkle patterns in compressed thin sheets are ubiquitous in nature and technology, from the furrows on our foreheads to crinkly plant leaves, from ripples on plastic-wrapped objects to the protein film on milk. The current understanding of an elementary descriptor of wrinkles—their wavelength—is restricted to deformations that are parallel, spatially uniform, and nearly planar. However, most naturally occurring wrinkles do not satisfy these stipulations. Here we present a scheme that quantitatively explains the wrinkle wavelength beyond such idealized situations. We propose a local law that incorporates both mechanical and geometrical effects on the spatial variation of wrinkle wavelength. Our experiments on thin polymer films provide strong evidence for its validity. Understanding how wavelength depends on the properties of the sheet and the underlying liquid or elastic subphase is crucial for applications where wrinkles are used to sculpt surface topography, to measure properties of the sheet, or to infer forces applied to a film. PMID:26787902

  10. Decreasing spatial variability in precipitation extremes in southwestern China and the local/large-scale influencing factors

    NASA Astrophysics Data System (ADS)

    Liu, Meixian; Xu, Xianli; Sun, Alex

    2015-07-01

    Climate extremes can cause devastating damage to human society and ecosystems. Recent studies have drawn many conclusions about trends in climate extremes, but few have focused on quantitative analysis of their spatial variability and underlying mechanisms. By using the techniques of overlapping moving windows, the Mann-Kendall trend test, correlation, and stepwise regression, this study examined the spatial-temporal variation of precipitation extremes and investigated the potential key factors influencing this variation in southwestern (SW) China, a globally important biodiversity hot spot and climate-sensitive region. Results showed that the changing trends of precipitation extremes were not spatially uniform, but the spatial variability of these precipitation extremes decreased from 1959 to 2012. Further analysis found that atmospheric circulations rather than local factors (land cover, topographic conditions, etc.) were the main cause of such precipitation extremes. This study suggests that droughts or floods may become more homogenously widespread throughout SW China. Hence, region-wide assessments and coordination are needed to help mitigate the economic and ecological impacts.

  11. Implementation of Teacher Consultation and Coaching in Urban Schools: A Mixed Method Study

    PubMed Central

    Cappella, Elise; Jackson, Daisy R.; Kim, Ha Yeon; Bilal, Caroline; Holland, Sibyl; Atkins, Marc S.

    2015-01-01

    Guided by implementation science scholarship and school mental health research, the current study uses qualitative and quantitative data to illuminate the barriers, opportunities, and processes underlying the implementation of a teacher consultation and coaching model (BRIDGE) in urban elementary schools. Data come from five public elementary schools, 12 school mental health staff (BRIDGE consultants), and 18 teachers participating in a classroom-randomized trial of BRIDGE. Findings from directed content analysis of teacher focus group and interview data suggest that aspects of the BRIDGE intervention model, school organization and classroom contexts, and teachers/consultants and their relationship were relevant as implementation facilitators or barriers. In addition, case study analysis of intervention materials and fidelity tools from classrooms with moderate-to-high dosage and adherence suggest variation in consultation and coaching by initial level of observed classroom need. Results illuminate the need for implementation research to extend beyond simple indicators of fidelity to the multiple systems and variation in processes at play across levels of the implementation context. PMID:27293490

  12. Vibroacoustic processes and structural variations in muscular tissue

    NASA Astrophysics Data System (ADS)

    Antonets, V. A.; Klochkov, B. N.; Kovaleva, E. P.

    1995-03-01

    This paper reviews the problems and results obtained in the course of experimental and theoretical investigations of the vibroacoustic activity of contracting muscles. Two types of such processes are examined: (1) acoustic vibrations due to the macromolecular recombinations of muscle proteins, which are responsible for the muscle contraction, and (2) acoustic vibrations associated with the finite accuracy and speed of the receptor-effector system that controls the muscle contraction. By investigating the acoustic vibrations, we examine structural recombinations (conformation variations) in macromolecules during mechanochemical reactions. Since chemical reactions of macromolecules are always accompanied by conformational recombinations, the generation mechanism, which is responsible for the contraction processes in a muscular tissue, can also be extended to other macromolecular media. Investigation of infrasound vibrations makes it possible to explore the quality and error of control for the processes in the muscle under different types of loading. Since a living body is controlled via perceptions, the latter can be quantitatively estimated by the parametess of infrasound vibrations.

  13. Genetic control of the alternative pathway of complement in humans and age-related macular degeneration

    PubMed Central

    Hecker, Laura A.; Edwards, Albert O.; Ryu, Euijung; Tosakulwong, Nirubol; Baratz, Keith H.; Brown, William L.; Issa, Peter Charbel; Scholl, Hendrik P.; Pollok-Kopp, Beatrix; Schmid-Kubista, Katharina E.; Bailey, Kent R.; Oppermann, Martin

    2010-01-01

    Activation of the alternative pathway of complement is implicated in common neurodegenerative diseases including age-related macular degeneration (AMD). We explored the impact of common variation in genes encoding proteins of the alternative pathway on complement activation in human blood and in AMD. Genetic variation across the genes encoding complement factor H (CFH), factor B (CFB) and component 3 (C3) was determined. The influence of common haplotypes defining transcriptional and translational units on complement activation in blood was determined in a quantitative genomic association study. Individual haplotypes in CFH and CFB were associated with distinct and novel effects on plasma levels of precursors, regulators and activation products of the alternative pathway of complement in human blood. Further, genetic variation in CFH thought to influence cell surface regulation of complement did not alter plasma complement levels in human blood. Plasma markers of chronic activation (split-products Ba and C3d) and an activating enzyme (factor D) were elevated in AMD subjects. Most of the elevation in AMD was accounted for by the genetic variation controlling complement activation in human blood. Activation of the alternative pathway of complement in blood is under genetic control and increases with age. The genetic variation associated with increased activation of complement in human blood also increased the risk of AMD. Our data are consistent with a disease model in which genetic variation in the complement system increases the risk of AMD by a combination of systemic complement activation and abnormal regulation of complement activation in local tissues. PMID:19825847

  14. Visibility vs. biomass in flowers: exploring corolla allocation in Mediterranean entomophilous plants.

    PubMed

    Herrera, Javier

    2009-05-01

    While pollinators may in general select for large, morphologically uniform floral phenotypes, drought stress has been proposed as a destabilizing force that may favour small flowers and/or promote floral variation within species. The general validity of this concept was checked by surveying a taxonomically diverse array of 38 insect-pollinated Mediterranean species. The interplay between fresh biomass investment, linear size and percentage corolla allocation was studied. Allometric relationships between traits were investigated by reduced major-axis regression, and qualitative correlates of floral variation explored using general linear-model MANOVA. Across species, flowers were perfectly isometrical with regard to corolla allocation (i.e. larger flowers were just scaled-up versions of smaller ones and vice versa). In contrast, linear size and biomass varied allometrically (i.e. there were shape variations, in addition to variations in size). Most floral variables correlated positively and significantly across species, except corolla allocation, which was largely determined by family membership and floral symmetry. On average, species with bilateral flowers allocated more to the corolla than those with radial flowers. Plant life-form was immaterial to all of the studied traits. Flower linear size variation was in general low among conspecifics (coefficients of variation around 10 %), whereas biomass was in general less uniform (e.g. 200-400 mg in Cistus salvifolius). Significant among-population differences were detected for all major quantitative floral traits. Flower miniaturization can allow an improved use of reproductive resources under prevailingly stressful conditions. The hypothesis that flower size reflects a compromise between pollinator attraction, water requirements and allometric constraints among floral parts is discussed.

  15. Temporal variations in a phytoplankton community in a subtropical reservoir: An interplay of extrinsic and intrinsic community effects.

    PubMed

    Yang, Wen; Zheng, Zhongming; Zheng, Cheng; Lu, Kaihong; Ding, Dewen; Zhu, Jinyong

    2018-01-15

    The phytoplankton community structure is potentially influenced by both extrinsic effects originating from the surrounding environment and intrinsic effects relying on interspecific interactions between two species. However, few studies have simultaneously considered both types of effects and assessed the relative importance of these factors. In this study, we used data collected over nine months (August 2012-May 2013) from a typical subtropical reservoir in southeast China to analyze the temporal variation of its phytoplankton community structure and develop a quantitative understanding of the extrinsic and intrinsic effects on phytoplankton community dynamics. Significant temporal variations were observed in environmental variables as well as the phytoplankton and zooplankton communities, whereas their variational trajectories and directions were entirely different. Variance partitioning analysis showed that extrinsic factors significantly explained only 31% of the variation in the phytoplankton community, thus suggesting that these factors were incomplete predictors of the community structure. Random forest-based models showed that 48% of qualified responsible phytoplankton species were more accurately predicted by phytoplankton-only models, which revealed clear effects of interspecific species-to-species interactions. Furthermore, we used association networks to model the interactions among phytoplankton, zooplankton and the environment. Network comparisons indicated that interspecific interactions were widely present in the phytoplankton community and dominated the network rather than those between phytoplankton and extrinsic factors. These findings expand the current understanding of the underlying mechanisms that govern phytoplankton community dynamics. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. A Variational Monte Carlo Approach to Atomic Structure

    ERIC Educational Resources Information Center

    Davis, Stephen L.

    2007-01-01

    The practicality and usefulness of variational Monte Carlo calculations to atomic structure are demonstrated. It is found to succeed in quantitatively illustrating electron shielding, effective nuclear charge, l-dependence of the orbital energies, and singlet-tripetenergy splitting and ionization energy trends in atomic structure theory.

  17. Morphological and molecular variations induce mitochondrial dysfunction as a possible underlying mechanism of athletic amenorrhea.

    PubMed

    Xiong, Ruo-Hong; Wen, Shi-Lei; Wang, Qiang; Zhou, Hong-Ying; Feng, Shi

    2018-01-01

    Female athletes may experience difficulties in achieving pregnancy due to athletic amenorrhea (AA); however, the underlying mechanisms of AA remain unknown. The present study focuses on the mitochondrial alteration and its function in detecting the possible mechanism of AA. An AA rat model was established by excessive swimming. Hematoxylin and eosin staining, and transmission electron microscopic methods were performed to evaluate the morphological changes of the ovary, immunohistochemical examinations and radioimmunoassays were used to detect the reproductive hormones and corresponding receptors. Reverse transcription-quantitative polymerase chain reaction (RT-qPCR) was used to test the mtDNA copy number. PCR and western blot analysis were used to test the expression of ND2. The change of morphological features of the rat ovaries revealed evident abnormalities. Particularly, the features of the mitochondria were markedly altered. In addition, reproductive hormones in the serum and tissues of AA rats were also detected to evaluate the function of the ovaries, and the levels of these hormones were significantly decreased. Furthermore, the mitochondrial DNA copy number (mtDNA) and expression of NADH dehydrogenase subunit 2 (ND2) were quantitated by qPCR or western blot analysis. Accordingly, the mtDNA copy number and expression of ND2 expression were markedly reduced in the AA rats. In conclusion, mitochondrial dysfunction in AA may affect the cellular energy supply and, therefore, result in dysfunction of the ovary. Thus, mitochondrial dysfunction may be considered as a possible underlying mechanism for the occurrence of AA.

  18. Quantitative trait nucleotide analysis using Bayesian model selection.

    PubMed

    Blangero, John; Goring, Harald H H; Kent, Jack W; Williams, Jeff T; Peterson, Charles P; Almasy, Laura; Dyer, Thomas D

    2005-10-01

    Although much attention has been given to statistical genetic methods for the initial localization and fine mapping of quantitative trait loci (QTLs), little methodological work has been done to date on the problem of statistically identifying the most likely functional polymorphisms using sequence data. In this paper we provide a general statistical genetic framework, called Bayesian quantitative trait nucleotide (BQTN) analysis, for assessing the likely functional status of genetic variants. The approach requires the initial enumeration of all genetic variants in a set of resequenced individuals. These polymorphisms are then typed in a large number of individuals (potentially in families), and marker variation is related to quantitative phenotypic variation using Bayesian model selection and averaging. For each sequence variant a posterior probability of effect is obtained and can be used to prioritize additional molecular functional experiments. An example of this quantitative nucleotide analysis is provided using the GAW12 simulated data. The results show that the BQTN method may be useful for choosing the most likely functional variants within a gene (or set of genes). We also include instructions on how to use our computer program, SOLAR, for association analysis and BQTN analysis.

  19. A Link between Students' Discernment of Variation in Unidirectional Change and Their Use of Quantitative Variational Reasoning

    ERIC Educational Resources Information Center

    Johnson, Heather Lynn; McClintock, Evan

    2018-01-01

    In this design experiment study, we investigated the problem: What conditions might foster students' discernment of a critical aspect--variation in unidirectional change (e.g., discerning a "decreasing" increase)? At a public middle school in a large US city, we led a sequence of three days of whole class lessons, followed by task-based,…

  20. Single Laboratory Comparison of Quantitative Real-Time PCR Assays for the Detection of Human Fecal Pollution

    EPA Science Inventory

    There are numerous quantitative real-time PCR (qPCR) methods available to detect and enumerate human fecal pollution in ambient waters. Each assay employs distinct primers and/or probes and many target different genes and microorganisms leading to potential variations in method ...

  1. Single Laboratory Comparison of Quantitative Real-time PCR Assays for the Detection of Fecal Pollution

    EPA Science Inventory

    There are numerous quantitative real-time PCR (qPCR) assays available to detect and enumerate fecal pollution in ambient waters. Each assay employs distinct primers and probes that target different rRNA genes and microorganisms leading to potential variations in concentration es...

  2. Multinational Corporations, Democracy and Child Mortality: A Quantitative, Cross-National Analysis of Developing Countries

    ERIC Educational Resources Information Center

    Shandra, John M.; Nobles, Jenna E.; London, Bruce; Williamson, John B.

    2005-01-01

    This study presents quantitative, sociological models designed to account for cross-national variation in child mortality. We consider variables linked to five different theoretical perspectives that include the economic modernization, social modernization, political modernization, ecological-evolutionary, and dependency perspectives. The study is…

  3. Sensitivity of seafloor bathymetry to climate-driven fluctuations in mid-ocean ridge magma supply.

    PubMed

    Olive, J-A; Behn, M D; Ito, G; Buck, W R; Escartín, J; Howell, S

    2015-10-16

    Recent studies have proposed that the bathymetric fabric of the seafloor formed at mid-ocean ridges records rapid (23,000 to 100,000 years) fluctuations in ridge magma supply caused by sealevel changes that modulate melt production in the underlying mantle. Using quantitative models of faulting and magma emplacement, we demonstrate that, in fact, seafloor-shaping processes act as a low-pass filter on variations in magma supply, strongly damping fluctuations shorter than about 100,000 years. We show that the systematic decrease in dominant seafloor wavelengths with increasing spreading rate is best explained by a model of fault growth and abandonment under a steady magma input. This provides a robust framework for deciphering the footprint of mantle melting in the fabric of abyssal hills, the most common topographic feature on Earth. Copyright © 2015, American Association for the Advancement of Science.

  4. Two‐phase designs for joint quantitative‐trait‐dependent and genotype‐dependent sampling in post‐GWAS regional sequencing

    PubMed Central

    Espin‐Garcia, Osvaldo; Craiu, Radu V.

    2017-01-01

    ABSTRACT We evaluate two‐phase designs to follow‐up findings from genome‐wide association study (GWAS) when the cost of regional sequencing in the entire cohort is prohibitive. We develop novel expectation‐maximization‐based inference under a semiparametric maximum likelihood formulation tailored for post‐GWAS inference. A GWAS‐SNP (where SNP is single nucleotide polymorphism) serves as a surrogate covariate in inferring association between a sequence variant and a normally distributed quantitative trait (QT). We assess test validity and quantify efficiency and power of joint QT‐SNP‐dependent sampling and analysis under alternative sample allocations by simulations. Joint allocation balanced on SNP genotype and extreme‐QT strata yields significant power improvements compared to marginal QT‐ or SNP‐based allocations. We illustrate the proposed method and evaluate the sensitivity of sample allocation to sampling variation using data from a sequencing study of systolic blood pressure. PMID:29239496

  5. A Potassium-Dependent Oxygen Sensing Pathway Regulates Plant Root Hydraulics.

    PubMed

    Shahzad, Zaigham; Canut, Matthieu; Tournaire-Roux, Colette; Martinière, Alexandre; Boursiac, Yann; Loudet, Olivier; Maurel, Christophe

    2016-09-22

    Aerobic organisms survive low oxygen (O2) through activation of diverse molecular, metabolic, and physiological responses. In most plants, root water permeability (in other words, hydraulic conductivity, Lpr) is downregulated under O2 deficiency. Here, we used a quantitative genetics approach in Arabidopsis to clone Hydraulic Conductivity of Root 1 (HCR1), a Raf-like MAPKKK that negatively controls Lpr. HCR1 accumulates and is functional under combined O2 limitation and potassium (K(+)) sufficiency. HCR1 regulates Lpr and hypoxia responsive genes, through the control of RAP2.12, a key transcriptional regulator of the core anaerobic response. A substantial variation of HCR1 in regulating Lpr is observed at the Arabidopsis species level. Thus, by combinatorially integrating two soil signals, K(+) and O2 availability, HCR1 modulates the resilience of plants to multiple flooding scenarios. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. A simulation of orientation dependent, global changes in camera sensitivity in ECT

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

    Bieszk, J.A.; Hawman, E.G.; Malmin, R.E.

    1984-01-01

    ECT promises the abilities to: 1) observe radioisotope distributions in a patient without the summation of overlying activity to reduce contrast, and 2) measure quantitatively these distributions to further and more accurately assess organ function. Ideally, camera-based ECT systems should have a performance that is independent of camera orientation or gantry angle. This study is concerned with ECT quantitation errors that can arise from angle-dependent variations of camera sensitivity. Using simulated phantoms representative of heart and liver sections, the effects of sensitivity changes on reconstructed images were assessed both visually and quantitatively based on ROI sums. The sinogram for eachmore » test image was simulated with 128 linear digitization and 180 angular views. The global orientation-dependent sensitivity was modelled by applying an angular sensitivity dependence to the sinograms of the test images. Four sensitivity variations were studied. Amplitudes of 0% (as a reference), 5%, 10%, and 25% with a costheta dependence were studied as well as a cos2theta dependence with a 5% amplitude. Simulations were done with and without Poisson noise to: 1) determine trends in the quantitative effects as a function of the magnitude of the variation, and 2) to see how these effects are manifested in studies having statistics comparable to clinical cases. For the most realistic sensitivity variation (costheta, 5% ampl.), the ROIs chosen in the present work indicated changes of <0.5% in the noiseless case and <5% for the case with Poisson noise. The effects of statistics appear to dominate any effects due to global, sinusoidal, orientation-dependent sensitivity changes in the cases studied.« less

  7. Local selection modifies phenotypic divergence among Rana temporaria populations in the presence of gene flow.

    PubMed

    Richter-Boix, Alex; Teplitsky, Céline; Rogell, Björn; Laurila, Anssi

    2010-02-01

    In ectotherms, variation in life history traits among populations is common and suggests local adaptation. However, geographic variation itself is not a proof for local adaptation, as genetic drift and gene flow may also shape patterns of quantitative variation. We studied local and regional variation in means and phenotypic plasticity of larval life history traits in the common frog Rana temporaria using six populations from central Sweden, breeding in either open-canopy or partially closed-canopy ponds. To separate local adaptation from genetic drift, we compared differentiation in quantitative genetic traits (Q(ST)) obtained from a common garden experiment with differentiation in presumably neutral microsatellite markers (F(ST)). We found that R. temporaria populations differ in means and plasticities of life history traits in different temperatures at local, and in F(ST) at regional scale. Comparisons of differentiation in quantitative traits and in molecular markers suggested that natural selection was responsible for the divergence in growth and development rates as well as in temperature-induced plasticity, indicating local adaptation. However, at low temperature, the role of genetic drift could not be separated from selection. Phenotypes were correlated with forest canopy closure, but not with geographical or genetic distance. These results indicate that local adaptation can evolve in the presence of ongoing gene flow among the populations, and that natural selection is strong in this system.

  8. Prediction Analysis for Measles Epidemics

    NASA Astrophysics Data System (ADS)

    Sumi, Ayako; Ohtomo, Norio; Tanaka, Yukio; Sawamura, Sadashi; Olsen, Lars Folke; Kobayashi, Nobumichi

    2003-12-01

    A newly devised procedure of prediction analysis, which is a linearized version of the nonlinear least squares method combined with the maximum entropy spectral analysis method, was proposed. This method was applied to time series data of measles case notification in several communities in the UK, USA and Denmark. The dominant spectral lines observed in each power spectral density (PSD) can be safely assigned as fundamental periods. The optimum least squares fitting (LSF) curve calculated using these fundamental periods can essentially reproduce the underlying variation of the measles data. An extension of the LSF curve can be used to predict measles case notification quantitatively. Some discussions including a predictability of chaotic time series are presented.

  9. Parametric design and gridding through relational geometry

    NASA Technical Reports Server (NTRS)

    Letcher, John S., Jr.; Shook, D. Michael

    1995-01-01

    Relational Geometric Synthesis (RGS) is a new logical framework for building up precise definitions of complex geometric models from points, curves, surfaces and solids. RGS achieves unprecedented design flexibility by supporting a rich variety of useful curve and surface entities. During the design process, many qualitative and quantitative relationships between elementary objects may be captured and retained in a data structure equivalent to a directed graph, such that they can be utilized for automatically updating the complete model geometry following changes in the shape or location of an underlying object. Capture of relationships enables many new possibilities for parametric variations and optimization. Examples are given of panelization applications for submarines, sailing yachts, offshore structures, and propellers.

  10. Longitudinal flying qualities criteria for single-pilot instrument flight operations

    NASA Technical Reports Server (NTRS)

    Stengel, R. F.; Bar-Gill, A.

    1983-01-01

    Modern estimation and control theory, flight testing, and statistical analysis were used to deduce flying qualities criteria for General Aviation Single Pilot Instrument Flight Rule (SPIFR) operations. The principal concern is that unsatisfactory aircraft dynamic response combined with high navigation/communication workload can produce problems of safety and efficiency. To alleviate these problems. The relative importance of these factors must be determined. This objective was achieved by flying SPIFR tasks with different aircraft dynamic configurations and assessing the effects of such variations under these conditions. The experimental results yielded quantitative indicators of pilot's performance and workload, and for each of them, multivariate regression was applied to evaluate several candidate flying qualities criteria.

  11. Characterizing fluvial heavy metal pollutions under different rainfall conditions: Implication for aquatic environment protection.

    PubMed

    Zhang, Lixun; Zhao, Bo; Xu, Gang; Guan, Yuntao

    2018-09-01

    Globally, fluvial heavy metal (HM) pollution has recently become an increasingly severe problem. However, few studies have investigated the variational characteristics of fluvial HMs after rain over long periods (≥1 year). The Dakan River in Xili Reservoir watershed (China) was selected as a case study to investigate pollution levels, influencing factors, and sources of HMs under different rainfall conditions during 2015 and 2016. Fluvial HMs showed evident spatiotemporal variations attributable to the coupled effects of pollution generation and rainfall diffusion. Fluvial HM concentrations were significantly associated with rainfall characteristics (e.g., rainfall intensity, rainfall amount, and antecedent dry period) and river flow, which influenced the generation and the transmission of fluvial HMs in various ways. Moreover, this interrelationship depended considerably on the HM type and particle size distribution. Mn, Pb, Cr, and Ni were major contributors to high values of the comprehensive pollution index; therefore, they should be afforded special attention. Additionally, quantitative source apportionment of fluvial HMs was conducted by combining principal component analysis with multiple linear regression and chemical mass balance models to obtain comprehensive source profiles. Finally, an environment-friendly control strategy coupling "source elimination" and "transport barriers" was proposed for aquatic environment protection. Copyright © 2018 Elsevier B.V. All rights reserved.

  12. A Quantitative Comparison of the Similarity between Genes and Geography in Worldwide Human Populations

    PubMed Central

    Wang, Chaolong; Zöllner, Sebastian; Rosenberg, Noah A.

    2012-01-01

    Multivariate statistical techniques such as principal components analysis (PCA) and multidimensional scaling (MDS) have been widely used to summarize the structure of human genetic variation, often in easily visualized two-dimensional maps. Many recent studies have reported similarity between geographic maps of population locations and MDS or PCA maps of genetic variation inferred from single-nucleotide polymorphisms (SNPs). However, this similarity has been evident primarily in a qualitative sense; and, because different multivariate techniques and marker sets have been used in different studies, it has not been possible to formally compare genetic variation datasets in terms of their levels of similarity with geography. In this study, using genome-wide SNP data from 128 populations worldwide, we perform a systematic analysis to quantitatively evaluate the similarity of genes and geography in different geographic regions. For each of a series of regions, we apply a Procrustes analysis approach to find an optimal transformation that maximizes the similarity between PCA maps of genetic variation and geographic maps of population locations. We consider examples in Europe, Sub-Saharan Africa, Asia, East Asia, and Central/South Asia, as well as in a worldwide sample, finding that significant similarity between genes and geography exists in general at different geographic levels. The similarity is highest in our examples for Asia and, once highly distinctive populations have been removed, Sub-Saharan Africa. Our results provide a quantitative assessment of the geographic structure of human genetic variation worldwide, supporting the view that geography plays a strong role in giving rise to human population structure. PMID:22927824

  13. Genetic approaches in comparative and evolutionary physiology

    PubMed Central

    Bridgham, Jamie T.; Kelly, Scott A.; Garland, Theodore

    2015-01-01

    Whole animal physiological performance is highly polygenic and highly plastic, and the same is generally true for the many subordinate traits that underlie performance capacities. Quantitative genetics, therefore, provides an appropriate framework for the analysis of physiological phenotypes and can be used to infer the microevolutionary processes that have shaped patterns of trait variation within and among species. In cases where specific genes are known to contribute to variation in physiological traits, analyses of intraspecific polymorphism and interspecific divergence can reveal molecular mechanisms of functional evolution and can provide insights into the possible adaptive significance of observed sequence changes. In this review, we explain how the tools and theory of quantitative genetics, population genetics, and molecular evolution can inform our understanding of mechanism and process in physiological evolution. For example, lab-based studies of polygenic inheritance can be integrated with field-based studies of trait variation and survivorship to measure selection in the wild, thereby providing direct insights into the adaptive significance of physiological variation. Analyses of quantitative genetic variation in selection experiments can be used to probe interrelationships among traits and the genetic basis of physiological trade-offs and constraints. We review approaches for characterizing the genetic architecture of physiological traits, including linkage mapping and association mapping, and systems approaches for dissecting intermediary steps in the chain of causation between genotype and phenotype. We also discuss the promise and limitations of population genomic approaches for inferring adaptation at specific loci. We end by highlighting the role of organismal physiology in the functional synthesis of evolutionary biology. PMID:26041111

  14. Genetic approaches in comparative and evolutionary physiology.

    PubMed

    Storz, Jay F; Bridgham, Jamie T; Kelly, Scott A; Garland, Theodore

    2015-08-01

    Whole animal physiological performance is highly polygenic and highly plastic, and the same is generally true for the many subordinate traits that underlie performance capacities. Quantitative genetics, therefore, provides an appropriate framework for the analysis of physiological phenotypes and can be used to infer the microevolutionary processes that have shaped patterns of trait variation within and among species. In cases where specific genes are known to contribute to variation in physiological traits, analyses of intraspecific polymorphism and interspecific divergence can reveal molecular mechanisms of functional evolution and can provide insights into the possible adaptive significance of observed sequence changes. In this review, we explain how the tools and theory of quantitative genetics, population genetics, and molecular evolution can inform our understanding of mechanism and process in physiological evolution. For example, lab-based studies of polygenic inheritance can be integrated with field-based studies of trait variation and survivorship to measure selection in the wild, thereby providing direct insights into the adaptive significance of physiological variation. Analyses of quantitative genetic variation in selection experiments can be used to probe interrelationships among traits and the genetic basis of physiological trade-offs and constraints. We review approaches for characterizing the genetic architecture of physiological traits, including linkage mapping and association mapping, and systems approaches for dissecting intermediary steps in the chain of causation between genotype and phenotype. We also discuss the promise and limitations of population genomic approaches for inferring adaptation at specific loci. We end by highlighting the role of organismal physiology in the functional synthesis of evolutionary biology. Copyright © 2015 the American Physiological Society.

  15. A quantitative comparison of the similarity between genes and geography in worldwide human populations.

    PubMed

    Wang, Chaolong; Zöllner, Sebastian; Rosenberg, Noah A

    2012-08-01

    Multivariate statistical techniques such as principal components analysis (PCA) and multidimensional scaling (MDS) have been widely used to summarize the structure of human genetic variation, often in easily visualized two-dimensional maps. Many recent studies have reported similarity between geographic maps of population locations and MDS or PCA maps of genetic variation inferred from single-nucleotide polymorphisms (SNPs). However, this similarity has been evident primarily in a qualitative sense; and, because different multivariate techniques and marker sets have been used in different studies, it has not been possible to formally compare genetic variation datasets in terms of their levels of similarity with geography. In this study, using genome-wide SNP data from 128 populations worldwide, we perform a systematic analysis to quantitatively evaluate the similarity of genes and geography in different geographic regions. For each of a series of regions, we apply a Procrustes analysis approach to find an optimal transformation that maximizes the similarity between PCA maps of genetic variation and geographic maps of population locations. We consider examples in Europe, Sub-Saharan Africa, Asia, East Asia, and Central/South Asia, as well as in a worldwide sample, finding that significant similarity between genes and geography exists in general at different geographic levels. The similarity is highest in our examples for Asia and, once highly distinctive populations have been removed, Sub-Saharan Africa. Our results provide a quantitative assessment of the geographic structure of human genetic variation worldwide, supporting the view that geography plays a strong role in giving rise to human population structure.

  16. Quantitative correlation between the void morphology of niobium-tin wires and their irreversible critical current degradation upon mechanical loading

    DOE PAGES

    Barth, Christian; Seeber, B.; Rack, A.; ...

    2018-04-26

    Understanding the critical current performance variation of Nb 3Sn superconducting wires under mechanical loading is a crucial issue for the design of next generation accelerator and fusion magnets. In these applications, the mechanical properties of the conductors may become a limiting factor due to the strong electro-magnetic forces resulting from the combination of large magnets and intense magnetic fields. In particular, the presence of voids in the superconducting filament structure, which are formed during the fabrication and the reaction heat treatment, determines localized stress concentrations and possibly the formation of cracks. In this work, we demonstrate a quantitative correlation betweenmore » the void morphology and the electro-mechanical limits measured on different Bronze route Nb 3Sn wires. Hot Isostatic Pressing (HIP) prior to the reaction heat treatment is utilized to partially eliminate the voids. The wires’ void distributions - with and without HIP treatment - are detected and statistically analyzed using high energy X-ray micro tomography. The stress concentration due to the shape and distribution of the voids as well as their impact on the electro-mechanical properties are determined through finite element method modeling. Lastly, the results are quantitatively correlated with the experimentally determined limits of the irreversible critical current degradation upon mechanical loading.« less

  17. [Quantitative assessment of urban ecosystem services flow based on entropy theory: A case study of Beijing, China].

    PubMed

    Li, Jing Xin; Yang, Li; Yang, Lei; Zhang, Chao; Huo, Zhao Min; Chen, Min Hao; Luan, Xiao Feng

    2018-03-01

    Quantitative evaluation of ecosystem service is a primary premise for rational resources exploitation and sustainable development. Examining ecosystem services flow provides a scientific method to quantity ecosystem services. We built an assessment indicator system based on land cover/land use under the framework of four types of ecosystem services. The types of ecosystem services flow were reclassified. Using entropy theory, disorder degree and developing trend of indicators and urban ecosystem were quantitatively assessed. Beijing was chosen as the study area, and twenty-four indicators were selected for evaluation. The results showed that the entropy value of Beijing urban ecosystem during 2004 to 2015 was 0.794 and the entropy flow was -0.024, suggesting a large disordered degree and near verge of non-health. The system got maximum values for three times, while the mean annual variation of the system entropy value increased gradually in three periods, indicating that human activities had negative effects on urban ecosystem. Entropy flow reached minimum value in 2007, implying the environmental quality was the best in 2007. The determination coefficient for the fitting function of total permanent population in Beijing and urban ecosystem entropy flow was 0.921, indicating that urban ecosystem health was highly correlated with total permanent population.

  18. Quantitative correlation between the void morphology of niobium-tin wires and their irreversible critical current degradation upon mechanical loading

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

    Barth, Christian; Seeber, B.; Rack, A.

    Understanding the critical current performance variation of Nb 3Sn superconducting wires under mechanical loading is a crucial issue for the design of next generation accelerator and fusion magnets. In these applications, the mechanical properties of the conductors may become a limiting factor due to the strong electro-magnetic forces resulting from the combination of large magnets and intense magnetic fields. In particular, the presence of voids in the superconducting filament structure, which are formed during the fabrication and the reaction heat treatment, determines localized stress concentrations and possibly the formation of cracks. In this work, we demonstrate a quantitative correlation betweenmore » the void morphology and the electro-mechanical limits measured on different Bronze route Nb 3Sn wires. Hot Isostatic Pressing (HIP) prior to the reaction heat treatment is utilized to partially eliminate the voids. The wires’ void distributions - with and without HIP treatment - are detected and statistically analyzed using high energy X-ray micro tomography. The stress concentration due to the shape and distribution of the voids as well as their impact on the electro-mechanical properties are determined through finite element method modeling. Lastly, the results are quantitatively correlated with the experimentally determined limits of the irreversible critical current degradation upon mechanical loading.« less

  19. WormQTLHD—a web database for linking human disease to natural variation data in C. elegans

    PubMed Central

    van der Velde, K. Joeri; de Haan, Mark; Zych, Konrad; Arends, Danny; Snoek, L. Basten; Kammenga, Jan E.; Jansen, Ritsert C.; Swertz, Morris A.; Li, Yang

    2014-01-01

    Interactions between proteins are highly conserved across species. As a result, the molecular basis of multiple diseases affecting humans can be studied in model organisms that offer many alternative experimental opportunities. One such organism—Caenorhabditis elegans—has been used to produce much molecular quantitative genetics and systems biology data over the past decade. We present WormQTLHD (Human Disease), a database that quantitatively and systematically links expression Quantitative Trait Loci (eQTL) findings in C. elegans to gene–disease associations in man. WormQTLHD, available online at http://www.wormqtl-hd.org, is a user-friendly set of tools to reveal functionally coherent, evolutionary conserved gene networks. These can be used to predict novel gene-to-gene associations and the functions of genes underlying the disease of interest. We created a new database that links C. elegans eQTL data sets to human diseases (34 337 gene–disease associations from OMIM, DGA, GWAS Central and NHGRI GWAS Catalogue) based on overlapping sets of orthologous genes associated to phenotypes in these two species. We utilized QTL results, high-throughput molecular phenotypes, classical phenotypes and genotype data covering different developmental stages and environments from WormQTL database. All software is available as open source, built on MOLGENIS and xQTL workbench. PMID:24217915

  20. WormQTLHD--a web database for linking human disease to natural variation data in C. elegans.

    PubMed

    van der Velde, K Joeri; de Haan, Mark; Zych, Konrad; Arends, Danny; Snoek, L Basten; Kammenga, Jan E; Jansen, Ritsert C; Swertz, Morris A; Li, Yang

    2014-01-01

    Interactions between proteins are highly conserved across species. As a result, the molecular basis of multiple diseases affecting humans can be studied in model organisms that offer many alternative experimental opportunities. One such organism-Caenorhabditis elegans-has been used to produce much molecular quantitative genetics and systems biology data over the past decade. We present WormQTL(HD) (Human Disease), a database that quantitatively and systematically links expression Quantitative Trait Loci (eQTL) findings in C. elegans to gene-disease associations in man. WormQTL(HD), available online at http://www.wormqtl-hd.org, is a user-friendly set of tools to reveal functionally coherent, evolutionary conserved gene networks. These can be used to predict novel gene-to-gene associations and the functions of genes underlying the disease of interest. We created a new database that links C. elegans eQTL data sets to human diseases (34 337 gene-disease associations from OMIM, DGA, GWAS Central and NHGRI GWAS Catalogue) based on overlapping sets of orthologous genes associated to phenotypes in these two species. We utilized QTL results, high-throughput molecular phenotypes, classical phenotypes and genotype data covering different developmental stages and environments from WormQTL database. All software is available as open source, built on MOLGENIS and xQTL workbench.

  1. Quantitative correlation between the void morphology of niobium-tin wires and their irreversible critical current degradation upon mechanical loading.

    PubMed

    Barth, C; Seeber, B; Rack, A; Calzolaio, C; Zhai, Y; Matera, D; Senatore, C

    2018-04-26

    Understanding the critical current performance variation of Nb 3 Sn superconducting wires under mechanical loading is a crucial issue for the design of next generation accelerator and fusion magnets. In these applications, the mechanical properties of the conductors may become a limiting factor due to the strong electro-magnetic forces resulting from the combination of large magnets and intense magnetic fields. In particular, the presence of voids in the superconducting filament structure, which are formed during the fabrication and the reaction heat treatment, determines localized stress concentrations and possibly the formation of cracks. In this work, we demonstrate a quantitative correlation between the void morphology and the electro-mechanical limits measured on different Bronze route Nb 3 Sn wires. Hot Isostatic Pressing (HIP) prior to the reaction heat treatment is utilized to partially eliminate the voids. The wires' void distributions - with and without HIP treatment - are detected and statistically analyzed using high energy X-ray micro tomography. The stress concentration due to the shape and distribution of the voids as well as their impact on the electro-mechanical properties are determined through finite element method modeling. Finally, the results are quantitatively correlated with the experimentally determined limits of the irreversible critical current degradation upon mechanical loading.

  2. Objective definition of rosette shape variation using a combined computer vision and data mining approach.

    PubMed

    Camargo, Anyela; Papadopoulou, Dimitra; Spyropoulou, Zoi; Vlachonasios, Konstantinos; Doonan, John H; Gay, Alan P

    2014-01-01

    Computer-vision based measurements of phenotypic variation have implications for crop improvement and food security because they are intrinsically objective. It should be possible therefore to use such approaches to select robust genotypes. However, plants are morphologically complex and identification of meaningful traits from automatically acquired image data is not straightforward. Bespoke algorithms can be designed to capture and/or quantitate specific features but this approach is inflexible and is not generally applicable to a wide range of traits. In this paper, we have used industry-standard computer vision techniques to extract a wide range of features from images of genetically diverse Arabidopsis rosettes growing under non-stimulated conditions, and then used statistical analysis to identify those features that provide good discrimination between ecotypes. This analysis indicates that almost all the observed shape variation can be described by 5 principal components. We describe an easily implemented pipeline including image segmentation, feature extraction and statistical analysis. This pipeline provides a cost-effective and inherently scalable method to parameterise and analyse variation in rosette shape. The acquisition of images does not require any specialised equipment and the computer routines for image processing and data analysis have been implemented using open source software. Source code for data analysis is written using the R package. The equations to calculate image descriptors have been also provided.

  3. Effect of genotype and environment on branching in weedy green millet (Setaria viridis) and domesticated foxtail millet (Setaria italica) (Poaceae).

    PubMed

    Doust, Andrew N; Kellogg, Elizabeth A

    2006-04-01

    Many domesticated crops are derived from species whose life history includes weedy characteristics, such as the ability to vary branching patterns in response to environmental conditions. However, domesticated crop plants are characterized by less variable plant architecture, as well as by a general reduction in vegetative branching compared to their progenitor species. Here we examine weedy green millet and its domesticate foxtail millet that differ in the number of tillers (basal branches) and axillary branches along each tiller. Branch number in F(2:3) progeny of a cross between the two species varies with genotype, planting density, and other environmental variables, with significant genotype-environment interactions (GEI). This is shown by a complex pattern of reaction norms and by variation in the pattern of significant quantitative trait loci (QTL) amongst trials. Individual and joint analyses of high and low density trials indicate that most QTL have significant GEI. Dominance and epistasis also explain some variation in branching. Likely candidate genes underlying the QTL (based on map position and phenotypic effect) include teosinte branched1 and barren stalk1. Phytochrome B, which has been found to affect response to shading in other plants, explains little or no variation. Much variation in branching is explained by QTL that do not have obvious candidate genes from maize or rice.

  4. A surrogate analyte-based LC-MS/MS method for the determination of γ-hydroxybutyrate (GHB) in human urine and variation of endogenous urinary concentrations of GHB.

    PubMed

    Kang, Soyoung; Oh, Seung Min; Chung, Kyu Hyuck; Lee, Sooyeun

    2014-09-01

    γ-Hydroxybutyrate (GHB) is a drug of abuse with a strong anesthetic effect; however, proving its ingestion through the quantification of GHB in biological specimens is not straightforward due to the endogenous presence of GHB in human blood, urine, saliva, etc. In the present study, a surrogate analyte approach was applied to accurate quantitative determination of GHB in human urine using liquid chromatography-tandem mass spectrometry (LC-MS/MS) in order to overcome this issue. For this, (2)H6-GHB and (13)C2-dl-3-hydroxybutyrate were used as a surrogate standard and as an internal standard, respectively, and parallelism between the surrogate analyte approach and standard addition was investigated at the initial step. The validation results proved the method to be selective, accurate, and precise, with acceptable linearity within calibration ranges (0.1-1μg/ml). The limit of detection and the limit of quantification of (2)H6-GHB were 0.05 and 0.1μg/ml, respectively. No significant variations were observed among urine matrices from different sources. The stability of (2)H6-GHB was satisfactory under sample storage and in-process conditions. However, in vitro production of endogenous GHB was observed when the urine sample was kept under the in-process condition for 4h and under the storage conditions of 4 and -20°C. In order to facilitate the practical interpretation of urinary GHB, endogenous GHB was accurately measured in urine samples from 79 healthy volunteers using the surrogate analyte-based LC-MS/MS method developed in the present study. The unadjusted and creatinine-adjusted GHB concentrations in 74 urine samples with quantitative results ranged from 0.09 to 1.8μg/ml and from 4.5 to 530μg/mmol creatinine, respectively. No significant correlation was observed between the unadjusted and creatinine-adjusted GHB concentrations. The urinary endogenous GHB concentrations were affected by gender and age while they were not significantly influenced by habitual smoking, alcohol drinking, or caffeine-containing beverage drinking. Copyright © 2014 Elsevier B.V. All rights reserved.

  5. Experimental Influences in the Accurate Measurement of Cartilage Thickness in MRI.

    PubMed

    Wang, Nian; Badar, Farid; Xia, Yang

    2018-01-01

    Objective To study the experimental influences to the measurement of cartilage thickness by magnetic resonance imaging (MRI). Design The complete thicknesses of healthy and trypsin-degraded cartilage were measured at high-resolution MRI under different conditions, using two intensity-based imaging sequences (ultra-short echo [UTE] and multislice-multiecho [MSME]) and 3 quantitative relaxation imaging sequences (T 1 , T 2 , and T 1 ρ). Other variables included different orientations in the magnet, 2 soaking solutions (saline and phosphate buffered saline [PBS]), and external loading. Results With cartilage soaked in saline, UTE and T 1 methods yielded complete and consistent measurement of cartilage thickness, while the thickness measurement by T 2 , T 1 ρ, and MSME methods were orientation dependent. The effect of external loading on cartilage thickness is also sequence and orientation dependent. All variations in cartilage thickness in MRI could be eliminated with the use of a 100 mM PBS or imaged by UTE sequence. Conclusions The appearance of articular cartilage and the measurement accuracy of cartilage thickness in MRI can be influenced by a number of experimental factors in ex vivo MRI, from the use of various pulse sequences and soaking solutions to the health of the tissue. T 2 -based imaging sequence, both proton-intensity sequence and quantitative relaxation sequence, similarly produced the largest variations. With adequate resolution, the accurate measurement of whole cartilage tissue in clinical MRI could be utilized to detect differences between healthy and osteoarthritic cartilage after compression.

  6. A genome-wide association study of a global rice panel reveals resistance in Oryza sativa to root-knot nematodes.

    PubMed

    Dimkpa, Stanley O N; Lahari, Zobaida; Shrestha, Roshi; Douglas, Alex; Gheysen, Godelieve; Price, Adam H

    2016-02-01

    The root-knot nematode Meloidogyne graminicola is one of the most serious nematode pests worldwide and represents a major constraint on rice production. While variation in the susceptibility of Asian rice (Oryza sativa) exists, so far no strong and reliable resistance has been reported. Quantitative trait loci for partial resistance have been reported but no underlying genes have been tagged or cloned. Here, 332 accessions of the Rice Diversity Panel 1 were assessed for gall formation, revealing large variation across all subpopulations of rice and higher susceptibility in temperate japonica accessions. Accessions Khao Pahk Maw and LD 24 appeared to be resistant, which was confirmed in large pot experiments where no galls were observed. Detailed observations on these two accessions revealed no nematodes inside the roots 2 days after inoculation and very few females after 17 days (5 in Khao Pahk Maw and <1 in LD 24, in comparison with >100 in the susceptible controls). These two cultivars appear ideal donors for breeding root-knot nematode resistance. A genome-wide association study revealed 11 quantitative trait loci, two of which are close to epistatic loci detected in the Bala x Azucena population. The discussion highlights a small number of candidate genes worth exploring further, in particular many genes with lectin domains and genes on chromosome 11 with homology to the Hordeum Mla locus. © The Author 2015. Published by Oxford University Press on behalf of the Society for Experimental Biology.

  7. Interpretation of protein quantitation using the Bradford assay: comparison with two calculation models.

    PubMed

    Ku, Hyung-Keun; Lim, Hyuk-Min; Oh, Kyong-Hwa; Yang, Hyo-Jin; Jeong, Ji-Seon; Kim, Sook-Kyung

    2013-03-01

    The Bradford assay is a simple method for protein quantitation, but variation in the results between proteins is a matter of concern. In this study, we compared and normalized quantitative values from two models for protein quantitation, where the residues in the protein that bind to anionic Coomassie Brilliant Blue G-250 comprise either Arg and Lys (Method 1, M1) or Arg, Lys, and His (Method 2, M2). Use of the M2 model yielded much more consistent quantitation values compared with use of the M1 model, which exhibited marked overestimations against protein standards. Copyright © 2012 Elsevier Inc. All rights reserved.

  8. Genetic Architectures of Quantitative Variation in RNA Editing Pathways

    PubMed Central

    Gu, Tongjun; Gatti, Daniel M.; Srivastava, Anuj; Snyder, Elizabeth M.; Raghupathy, Narayanan; Simecek, Petr; Svenson, Karen L.; Dotu, Ivan; Chuang, Jeffrey H.; Keller, Mark P.; Attie, Alan D.; Braun, Robert E.; Churchill, Gary A.

    2016-01-01

    RNA editing refers to post-transcriptional processes that alter the base sequence of RNA. Recently, hundreds of new RNA editing targets have been reported. However, the mechanisms that determine the specificity and degree of editing are not well understood. We examined quantitative variation of site-specific editing in a genetically diverse multiparent population, Diversity Outbred mice, and mapped polymorphic loci that alter editing ratios globally for C-to-U editing and at specific sites for A-to-I editing. An allelic series in the C-to-U editing enzyme Apobec1 influences the editing efficiency of Apob and 58 additional C-to-U editing targets. We identified 49 A-to-I editing sites with polymorphisms in the edited transcript that alter editing efficiency. In contrast to the shared genetic control of C-to-U editing, most of the variable A-to-I editing sites were determined by local nucleotide polymorphisms in proximity to the editing site in the RNA secondary structure. Our results indicate that RNA editing is a quantitative trait subject to genetic variation and that evolutionary constraints have given rise to distinct genetic architectures in the two canonical types of RNA editing. PMID:26614740

  9. Quantitative descriptive analysis and principal component analysis for sensory characterization of Indian milk product cham-cham.

    PubMed

    Puri, Ritika; Khamrui, Kaushik; Khetra, Yogesh; Malhotra, Ravinder; Devraja, H C

    2016-02-01

    Promising development and expansion in the market of cham-cham, a traditional Indian dairy product is expected in the coming future with the organized production of this milk product by some large dairies. The objective of this study was to document the extent of variation in sensory properties of market samples of cham-cham collected from four different locations known for their excellence in cham-cham production and to find out the attributes that govern much of variation in sensory scores of this product using quantitative descriptive analysis (QDA) and principal component analysis (PCA). QDA revealed significant (p < 0.05) difference in sensory attributes of cham-cham among the market samples. PCA identified four significant principal components that accounted for 72.4 % of the variation in the sensory data. Factor scores of each of the four principal components which primarily correspond to sweetness/shape/dryness of interior, surface appearance/surface dryness, rancid and firmness attributes specify the location of each market sample along each of the axes in 3-D graphs. These findings demonstrate the utility of quantitative descriptive analysis for identifying and measuring attributes of cham-cham that contribute most to its sensory acceptability.

  10. Explaining Quantitative Variation in the Rate of Optional Infinitive Errors across Languages: A Comparison of MOSAIC and the Variational Learning Model

    ERIC Educational Resources Information Center

    Freudenthal, Daniel: Pine, Julian; Gobet, Fernando

    2010-01-01

    In this study, we use corpus analysis and computational modelling techniques to compare two recent accounts of the OI stage: Legate & Yang's (2007) Variational Learning Model and Freudenthal, Pine & Gobet's (2006) Model of Syntax Acquisition in Children. We first assess the extent to which each of these accounts can explain the level of OI errors…

  11. Partitioning of genetic variation between regulatory and coding gene segments: the predominance of software variation in genes encoding introvert proteins.

    PubMed

    Mitchison, A

    1997-01-01

    In considering genetic variation in eukaryotes, a fundamental distinction can be made between variation in regulatory (software) and coding (hardware) gene segments. For quantitative traits the bulk of variation, particularly that near the population mean, appears to reside in regulatory segments. The main exceptions to this rule concern proteins which handle extrinsic substances, here termed extrovert proteins. The immune system includes an unusually large proportion of this exceptional category, but even so its chief source of variation may well be polymorphism in regulatory gene segments. The main evidence for this view emerges from genome scanning for quantitative trait loci (QTL), which in the case of the immune system points to a major contribution of pro-inflammatory cytokine genes. Further support comes from sequencing of major histocompatibility complex (Mhc) class II promoters, where a high level of polymorphism has been detected. These Mhc promoters appear to act, in part at least, by gating the back-signal from T cells into antigen-presenting cells. Both these forms of polymorphism are likely to be sustained by the need for flexibility in the immune response. Future work on promoter polymorphism is likely to benefit from the input from genome informatics.

  12. Physiologic basis for understanding quantitative dehydration assessment.

    PubMed

    Cheuvront, Samuel N; Kenefick, Robert W; Charkoudian, Nisha; Sawka, Michael N

    2013-03-01

    Dehydration (body water deficit) is a physiologic state that can have profound implications for human health and performance. Unfortunately, dehydration can be difficult to assess, and there is no single, universal gold standard for decision making. In this article, we review the physiologic basis for understanding quantitative dehydration assessment. We highlight how phenomenologic interpretations of dehydration depend critically on the type (dehydration compared with volume depletion) and magnitude (moderate compared with severe) of dehydration, which in turn influence the osmotic (plasma osmolality) and blood volume-dependent compensatory thresholds for antidiuretic and thirst responses. In particular, we review new findings regarding the biological variation in osmotic responses to dehydration and discuss how this variation can help provide a quantitative and clinically relevant link between the physiology and phenomenology of dehydration. Practical measures with empirical thresholds are provided as a starting point for improving the practice of dehydration assessment.

  13. Quantitative Trait Loci Controlling Vegetative Growth Rate in the Edible Basidiomycete Pleurotus ostreatus

    PubMed Central

    Larraya, Luis M.; Idareta, Eneko; Arana, Dani; Ritter, Enrique; Pisabarro, Antonio G.; Ramírez, Lucia

    2002-01-01

    Mycelium growth rate is a quantitative characteristic that exhibits continuous variation. This trait has applied interest, as growth rate is correlated with production yield and increased advantage against competitors. In this work, we studied growth rate variation in the edible basidiomycete Pleurotus ostreatus growing as monokaryotic or dikaryotic mycelium on Eger medium or on wheat straw. Our analysis resulted in identification of several genomic regions (quantitative trait loci [QTLs]) involved in the control of growth rate that can be mapped on the genetic linkage map of this fungus. In some cases monokaryotic and dikaryotic QTLs clustered at the same map position, indicating that there are principal genomic areas responsible for growth rate control. The availability of this linkage map of growth rate QTLs can help in the design of rational strain breeding programs based on genomic information. PMID:11872457

  14. Genetic variation for agronomic and fiber quality traits in a population derived from high-quality cotton germplasm

    USDA-ARS?s Scientific Manuscript database

    Genetic improvement of fiber quality is necessary to meet the requirements of processors and users of cotton fiber. To foster genetic improvement of cotton fiber quality, adequate genetic variation for the quantitatively inherited physical properties of cotton is required. Additionally, knowledge of...

  15. Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.

    PubMed

    Palmer, Nicholette D; Goodarzi, Mark O; Langefeld, Carl D; Wang, Nan; Guo, Xiuqing; Taylor, Kent D; Fingerlin, Tasha E; Norris, Jill M; Buchanan, Thomas A; Xiang, Anny H; Haritunians, Talin; Ziegler, Julie T; Williams, Adrienne H; Stefanovski, Darko; Cui, Jinrui; Mackay, Adrienne W; Henkin, Leora F; Bergman, Richard N; Gao, Xiaoyi; Gauderman, James; Varma, Rohit; Hanis, Craig L; Cox, Nancy J; Highland, Heather M; Below, Jennifer E; Williams, Amy L; Burtt, Noel P; Aguilar-Salinas, Carlos A; Huerta-Chagoya, Alicia; Gonzalez-Villalpando, Clicerio; Orozco, Lorena; Haiman, Christopher A; Tsai, Michael Y; Johnson, W Craig; Yao, Jie; Rasmussen-Torvik, Laura; Pankow, James; Snively, Beverly; Jackson, Rebecca D; Liu, Simin; Nadler, Jerry L; Kandeel, Fouad; Chen, Yii-Der I; Bowden, Donald W; Rich, Stephen S; Raffel, Leslie J; Rotter, Jerome I; Watanabe, Richard M; Wagenknecht, Lynne E

    2015-05-01

    Insulin sensitivity, insulin secretion, insulin clearance, and glucose effectiveness exhibit strong genetic components, although few studies have examined their genetic architecture or influence on type 2 diabetes (T2D) risk. We hypothesized that loci affecting variation in these quantitative traits influence T2D. We completed a multicohort genome-wide association study to search for loci influencing T2D-related quantitative traits in 4,176 Mexican Americans. Quantitative traits were measured by the frequently sampled intravenous glucose tolerance test (four cohorts) or euglycemic clamp (three cohorts), and random-effects models were used to test the association between loci and quantitative traits, adjusting for age, sex, and admixture proportions (Discovery). Analysis revealed a significant (P < 5.00 × 10(-8)) association at 11q14.3 (MTNR1B) with acute insulin response. Loci with P < 0.0001 among the quantitative traits were examined for translation to T2D risk in 6,463 T2D case and 9,232 control subjects of Mexican ancestry (Translation). Nonparametric meta-analysis of the Discovery and Translation cohorts identified significant associations at 6p24 (SLC35B3/TFAP2A) with glucose effectiveness/T2D, 11p15 (KCNQ1) with disposition index/T2D, and 6p22 (CDKAL1) and 11q14 (MTNR1B) with acute insulin response/T2D. These results suggest that T2D and insulin secretion and sensitivity have both shared and distinct genetic factors, potentially delineating genomic components of these quantitative traits that drive the risk for T2D. © 2015 by the American Diabetes Association. Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered.

  16. Genetic Basis for Variation in Wheat Grain Yield in Response to Varying Nitrogen Application

    PubMed Central

    Mahjourimajd, Saba; Taylor, Julian; Sznajder, Beata; Timmins, Andy; Shahinnia, Fahimeh; Rengel, Zed; Khabaz-Saberi, Hossein; Kuchel, Haydn; Okamoto, Mamoru

    2016-01-01

    Nitrogen (N) is a major nutrient needed to attain optimal grain yield (GY) in all environments. Nitrogen fertilisers represent a significant production cost, in both monetary and environmental terms. Developing genotypes capable of taking up N early during development while limiting biomass production after establishment and showing high N-use efficiency (NUE) would be economically beneficial. Genetic variation in NUE has been shown previously. Here we describe the genetic characterisation of NUE and identify genetic loci underlying N response under different N fertiliser regimes in a bread wheat population of doubled-haploid lines derived from a cross between two Australian genotypes (RAC875 × Kukri) bred for a similar production environment. NUE field trials were carried out at four sites in South Australia and two in Western Australia across three seasons. There was genotype-by-environment-by-treatment interaction across the sites and also good transgressive segregation for yield under different N supply in the population. We detected some significant Quantitative Trait Loci (QTL) associated with NUE and N response at different rates of N application across the sites and years. It was also possible to identify lines showing positive N response based on the rankings of their Best Linear Unbiased Predictions (BLUPs) within a trial. Dissecting the complexity of the N effect on yield through QTL analysis is a key step towards elucidating the molecular and physiological basis of NUE in wheat. PMID:27459317

  17. Catalysts at work: From integral to spatially resolved X-ray absorption spectroscopy

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

    Grunwaldt, Jan-Dierk; Kimmerle, Bertram; Baiker, Alfons

    2009-09-25

    Spectroscopic studies on heterogeneous catalysts have mostly been done in an integral mode. However, in many cases spatial variations in catalyst structure can occur, e.g. during impregnation of pre-shaped particles, during reaction in a catalytic reactor, or in microstructured reactors as the present overview shows. Therefore, spatially resolved molecular information on a microscale is required for a comprehensive understanding of theses systems, partly in ex situ studies, partly under stationary reaction conditions and in some cases even under dynamic reaction conditions. Among the different available techniques, X-ray absorption spectroscopy (XAS) is a well-suited tool for this purpose as the differentmore » selected examples highlight. Two different techniques, scanning and full-field X-ray microscopy/tomography, are described and compared. At first, the tomographic structure of impregnated alumina pellets is presented using full-field transmission microtomography and compared to the results obtained with a scanning X-ray microbeam technique to analyse the catalyst bed inside a catalytic quartz glass reactor. On the other hand, by using XAS in scanning microtomography, the structure and the distribution of Cu(0), Cu(I), Cu(II) species in a Cu/ZnO catalyst loaded in a quartz capillary microreactor could be reconstructed quantitatively on a virtual section through the reactor. An illustrating example for spatially resolved XAS under reaction conditions is the partial oxidation of methane over noble metal-based catalysts. In order to obtain spectroscopic information on the spatial variation of the oxidation state of the catalyst inside the reactor XAS spectra were recorded by scanning with a micro-focussed beam along the catalyst bed. Alternatively, full-field transmission imaging was used to efficiently determine the distribution of the oxidation state of a catalyst inside a reactor under reaction conditions. The new technical approaches together with quantitative data analysis and an appropriate in situ catalytic experiment allowed drawing important conclusions on the reaction mechanism, and the analytical strategy might be similarly applied in other case studies. The corresponding temperature profiles and the catalytic performance were measured by means of an IR-camera and mass spectrometric analysis. In a more advanced experiment the ignition process of the partial oxidation of methane was followed in a spatiotemporal manner which demonstrates that spatially resolved spectroscopic information can even be obtained in the subsecond scale.« less

  18. Single Laboratory Comparison of Quantitative Real-Time PCR Assays for the Detection of Human Fecal Pollution - Poster

    EPA Science Inventory

    There are numerous quantitative real-time PCR (qPCR) methods available to detect and enumerate human fecal pollution in ambient waters. Each assay employs distinct primers and/or probes and many target different genes and microorganisms leading to potential variations in method p...

  19. Quadratic elongation: A quantitative measure of distortion in coordination polyhedra

    USGS Publications Warehouse

    Robinson, Kelly F.; Gibbs, G.V.; Ribbe, P.H.

    1971-01-01

    Quadratic elongation and the variance of bond angles are linearly correlated for distorted octahedral and tetrahedral coordination complexes, both of which show variations in bond length and bond angle. The quadratic elonga tion is dimensionless, giving a quantitative measure of polyhedral distortion which is independent of the effective size of the polyhedron.

  20. Understanding Variation in Treatment Effects in Education Impact Evaluations: An Overview of Quantitative Methods. NCEE 2014-4017

    ERIC Educational Resources Information Center

    Schochet, Peter Z.; Puma, Mike; Deke, John

    2014-01-01

    This report summarizes the complex research literature on quantitative methods for assessing how impacts of educational interventions on instructional practices and student learning differ across students, educators, and schools. It also provides technical guidance about the use and interpretation of these methods. The research topics addressed…

  1. Quantitative genetic tools for insecticide resistance risk assessment: estimating the heritability of resistance

    Treesearch

    Michael J. Firko; Jane Leslie Hayes

    1990-01-01

    Quantitative genetic studies of resistance can provide estimates of genetic parameters not available with other types of genetic analyses. Three methods are discussed for estimating the amount of additive genetic variation in resistance to individual insecticides and subsequent estimation of heritability (h2) of resistance. Sibling analysis and...

  2. Quantitative color measurement for black walnut wood.

    Treesearch

    Ali A. Moslemi

    1967-01-01

    Black walnut (Juglans nigra L.) veneer specimens with wide variations in color were evaluated by a quantitative method of color measurement. The internationally adopted CIE system of colorimetry was used to analyze the data. These data were converted to also show them in the Munsell system. Color differences among the walnut veneer specimens were also numerically...

  3. On the Reproducibility of Label-Free Quantitative Cross-Linking/Mass Spectrometry

    NASA Astrophysics Data System (ADS)

    Müller, Fränze; Fischer, Lutz; Chen, Zhuo Angel; Auchynnikava, Tania; Rappsilber, Juri

    2018-02-01

    Quantitative cross-linking/mass spectrometry (QCLMS) is an emerging approach to study conformational changes of proteins and multi-subunit complexes. Distinguishing protein conformations requires reproducibly identifying and quantifying cross-linked peptides. Here we analyzed the variation between multiple cross-linking reactions using bis[sulfosuccinimidyl] suberate (BS3)-cross-linked human serum albumin (HSA) and evaluated how reproducible cross-linked peptides can be identified and quantified by LC-MS analysis. To make QCLMS accessible to a broader research community, we developed a workflow that integrates the established software tools MaxQuant for spectra preprocessing, Xi for cross-linked peptide identification, and finally Skyline for quantification (MS1 filtering). Out of the 221 unique residue pairs identified in our sample, 124 were subsequently quantified across 10 analyses with coefficient of variation (CV) values of 14% (injection replica) and 32% (reaction replica). Thus our results demonstrate that the reproducibility of QCLMS is in line with the reproducibility of general quantitative proteomics and we establish a robust workflow for MS1-based quantitation of cross-linked peptides.

  4. In silico quantitative structure-toxicity relationship study of aromatic nitro compounds.

    PubMed

    Pasha, Farhan Ahmad; Neaz, Mohammad Morshed; Cho, Seung Joo; Ansari, Mohiuddin; Mishra, Sunil Kumar; Tiwari, Sharvan

    2009-05-01

    Small molecules often have toxicities that are a function of molecular structural features. Minor variations in structural features can make large difference in such toxicity. Consequently, in silico techniques may be used to correlate such molecular toxicities with their structural features. Relative to nine different sets of aromatic nitro compounds having known observed toxicities against different targets, we developed ligand-based 2D quantitative structure-toxicity relationship models using 20 selected topological descriptors. The topological descriptors have several advantages such as conformational independency, facile and less time-consuming computation to yield good results. Multiple linear regression analysis was used to correlate variations of toxicity with molecular properties. The information index on molecular size, lopping centric index and Kier flexibility index were identified as fundamental descriptors for different kinds of toxicity, and further showed that molecular size, branching and molecular flexibility might be particularly important factors in quantitative structure-toxicity relationship analysis. This study revealed that topological descriptor-guided quantitative structure-toxicity relationship provided a very useful, cost and time-efficient, in silico tool for describing small-molecule toxicities.

  5. Experimental study of flash boiling spray vaporization through quantitative vapor concentration and liquid temperature measurements

    NASA Astrophysics Data System (ADS)

    Zhang, Gaoming; Hung, David L. S.; Xu, Min

    2014-08-01

    Flash boiling sprays of liquid injection under superheated conditions provide the novel solutions of fast vaporization and better air-fuel mixture formation for internal combustion engines. However, the physical mechanisms of flash boiling spray vaporization are more complicated than the droplet surface vaporization due to the unique bubble generation and boiling process inside a superheated bulk liquid, which are not well understood. In this study, the vaporization of flash boiling sprays was investigated experimentally through the quantitative measurements of vapor concentration and liquid temperature. Specifically, the laser-induced exciplex fluorescence technique was applied to distinguish the liquid and vapor distributions. Quantitative vapor concentration was obtained by correlating the intensity of vapor-phase fluorescence with vapor concentration through systematic corrections and calibrations. The intensities of two wavelengths were captured simultaneously from the liquid-phase fluorescence spectra, and their intensity ratios were correlated with liquid temperature. The results show that both liquid and vapor phase of multi-hole sprays collapse toward the centerline of the spray with different mass distributions under the flash boiling conditions. Large amount of vapor aggregates along the centerline of the spray to form a "gas jet" structure, whereas the liquid distributes more uniformly with large vortexes formed in the vicinity of the spray tip. The vaporization process under the flash boiling condition is greatly enhanced due to the intense bubble generation and burst. The liquid temperature measurements show strong temperature variations inside the flash boiling sprays with hot zones present in the "gas jet" structure and vortex region. In addition, high vapor concentration and closed vortex motion seem to have inhibited the heat and mass transfer in these regions. In summary, the vapor concentration and liquid temperature provide detailed information concerning the heat and mass transfer inside flash boiling sprays, which is important for the understanding of its unique vaporization process.

  6. Selection and Evaluation of Potential Reference Genes for Gene Expression Analysis in the Brown Planthopper, Nilaparvata lugens (Hemiptera: Delphacidae) Using Reverse-Transcription Quantitative PCR

    PubMed Central

    Zhu, Xun; Wan, Hu; Shakeel, Muhammad; Zhan, Sha; Jin, Byung-Rae; Li, Jianhong

    2014-01-01

    The brown planthopper (BPH), Nilaparvata lugens (Hemiptera, Delphacidae), is one of the most important rice pests. Abundant genetic studies on BPH have been conducted using reverse-transcription quantitative real-time PCR (qRT-PCR). Using qRT-PCR, the expression levels of target genes are calculated on the basis of endogenous controls. These genes need to be appropriately selected by experimentally assessing whether they are stably expressed under different conditions. However, such studies on potential reference genes in N. lugens are lacking. In this paper, we presented a systematic exploration of eight candidate reference genes in N. lugens, namely, actin 1 (ACT), muscle actin (MACT), ribosomal protein S11 (RPS11), ribosomal protein S15e (RPS15), alpha 2-tubulin (TUB), elongation factor 1 delta (EF), 18S ribosomal RNA (18S), and arginine kinase (AK) and used four alternative methods (BestKeeper, geNorm, NormFinder, and the delta Ct method) to evaluate the suitability of these genes as endogenous controls. We examined their expression levels among different experimental factors (developmental stage, body part, geographic population, temperature variation, pesticide exposure, diet change, and starvation) following the MIQE (Minimum Information for publication of Quantitative real time PCR Experiments) guidelines. Based on the results of RefFinder, which integrates four currently available major software programs to compare and rank the tested candidate reference genes, RPS15, RPS11, and TUB were found to be the most suitable reference genes in different developmental stages, body parts, and geographic populations, respectively. RPS15 was the most suitable gene under different temperature and diet conditions, while RPS11 was the most suitable gene under different pesticide exposure and starvation conditions. This work sheds light on establishing a standardized qRT-PCR procedure in N. lugens, and serves as a starting point for screening for reference genes for expression studies of related insects. PMID:24466124

  7. Selection and evaluation of potential reference genes for gene expression analysis in the brown planthopper, Nilaparvata lugens (Hemiptera: Delphacidae) using reverse-transcription quantitative PCR.

    PubMed

    Yuan, Miao; Lu, Yanhui; Zhu, Xun; Wan, Hu; Shakeel, Muhammad; Zhan, Sha; Jin, Byung-Rae; Li, Jianhong

    2014-01-01

    The brown planthopper (BPH), Nilaparvata lugens (Hemiptera, Delphacidae), is one of the most important rice pests. Abundant genetic studies on BPH have been conducted using reverse-transcription quantitative real-time PCR (qRT-PCR). Using qRT-PCR, the expression levels of target genes are calculated on the basis of endogenous controls. These genes need to be appropriately selected by experimentally assessing whether they are stably expressed under different conditions. However, such studies on potential reference genes in N. lugens are lacking. In this paper, we presented a systematic exploration of eight candidate reference genes in N. lugens, namely, actin 1 (ACT), muscle actin (MACT), ribosomal protein S11 (RPS11), ribosomal protein S15e (RPS15), alpha 2-tubulin (TUB), elongation factor 1 delta (EF), 18S ribosomal RNA (18S), and arginine kinase (AK) and used four alternative methods (BestKeeper, geNorm, NormFinder, and the delta Ct method) to evaluate the suitability of these genes as endogenous controls. We examined their expression levels among different experimental factors (developmental stage, body part, geographic population, temperature variation, pesticide exposure, diet change, and starvation) following the MIQE (Minimum Information for publication of Quantitative real time PCR Experiments) guidelines. Based on the results of RefFinder, which integrates four currently available major software programs to compare and rank the tested candidate reference genes, RPS15, RPS11, and TUB were found to be the most suitable reference genes in different developmental stages, body parts, and geographic populations, respectively. RPS15 was the most suitable gene under different temperature and diet conditions, while RPS11 was the most suitable gene under different pesticide exposure and starvation conditions. This work sheds light on establishing a standardized qRT-PCR procedure in N. lugens, and serves as a starting point for screening for reference genes for expression studies of related insects.

  8. Heritability of seed weight in Maritime pine, a relevant trait in the transmission of environmental maternal effects

    PubMed Central

    Zas, R; Sampedro, L

    2015-01-01

    Quantitative seed provisioning is an important life-history trait with strong effects on offspring phenotype and fitness. As for any other trait, heritability estimates are vital for understanding its evolutionary dynamics. However, being a trait in between two generations, estimating additive genetic variation of seed provisioning requires complex quantitative genetic approaches for distinguishing between true genetic and environmental maternal effects. Here, using Maritime pine as a long-lived plant model, we quantified additive genetic variation of cone and seed weight (SW) mean and SW within-individual variation. We used a powerful approach combining both half-sib analysis and parent–offspring regression using several common garden tests established in contrasting environments to separate G, E and G × E effects. Both cone weight and SW mean showed significant genetic variation but were also influenced by the maternal environment. Most of the large variation in SW mean was attributable to additive genetic effects (h2=0.55–0.74). SW showed no apparent G × E interaction, particularly when accounting for cone weight covariation, suggesting that the maternal genotypes actively control the SW mean irrespective of the amount of resources allocated to cones. Within-individual variation in SW was low (12%) relative to between-individual variation (88%), and showed no genetic variation but was largely affected by the maternal environment, with greater variation in the less favourable sites for pine growth. In summary, results were very consistent between the parental and the offspring common garden tests, and clearly indicated heritable genetic variation for SW mean but not for within-individual variation in SW. PMID:25160045

  9. Demonstration of the reproducibility of free-breathing diffusion-weighted MRI and dynamic contrast enhanced MRI in children with solid tumours: a pilot study.

    PubMed

    Miyazaki, Keiko; Jerome, Neil P; Collins, David J; Orton, Matthew R; d'Arcy, James A; Wallace, Toni; Moreno, Lucas; Pearson, Andrew D J; Marshall, Lynley V; Carceller, Fernando; Leach, Martin O; Zacharoulis, Stergios; Koh, Dow-Mu

    2015-09-01

    The objectives are to examine the reproducibility of functional MR imaging in children with solid tumours using quantitative parameters derived from diffusion-weighted (DW-) and dynamic contrast enhanced (DCE-) MRI. Patients under 16-years-of age with confirmed diagnosis of solid tumours (n = 17) underwent free-breathing DW-MRI and DCE-MRI on a 1.5 T system, repeated 24 hours later. DW-MRI (6 b-values, 0-1000 sec/mm(2)) enabled monoexponential apparent diffusion coefficient estimation using all (ADC0-1000) and only ≥100 sec/mm(2) (ADC100-1000) b-values. DCE-MRI was used to derive the transfer constant (K(trans)), the efflux constant (kep), the extracellular extravascular volume (ve), and the plasma fraction (vp), using a study cohort arterial input function (AIF) and the extended Tofts model. Initial area under the gadolinium enhancement curve and pre-contrast T1 were also calculated. Percentage coefficients of variation (CV) of all parameters were calculated. The most reproducible cohort parameters were ADC100-1000 (CV = 3.26%), pre-contrast T1 (CV = 6.21%), and K(trans) (CV = 15.23%). The ADC100-1000 was more reproducible than ADC0-1000, especially extracranially (CV = 2.40% vs. 2.78%). The AIF (n = 9) derived from this paediatric population exhibited sharper and earlier first-pass and recirculation peaks compared with the literature's adult population average. Free-breathing functional imaging protocols including DW-MRI and DCE-MRI are well-tolerated in children aged 6 - 15 with good to moderate measurement reproducibility. • Diffusion MRI protocol is feasible and well-tolerated in a paediatric oncology population. • DCE-MRI for pharmacokinetic evaluation is feasible and well tolerated in a paediatric oncology population. • Paediatric arterial input function (AIF) shows systematic differences from the adult population-average AIF. • Variation of quantitative parameters from paired functional MRI measurements were within 20%.

  10. Quantitative Relationships between Photosynthetic, Nitrogen Fixing, and Fermentative H2 Metabolism in a Photosynthetic Microbial Mat

    NASA Technical Reports Server (NTRS)

    Hoehler, Tori M.; Albert, Daniel B.; Bebout, Brad M.; Turk, Kendra A.; DesMarais, David J.

    2004-01-01

    The ultimate potential of any microbial ecosystem to contribute chemically to its environment - and therefore, to impact planetary biogeochemistry or to generate recognizable biosignatures - depends not only on the individual metabolic capabilities of constituent organisms, but also on how those capabilities are expressed through interactions with neighboring organisms. This is particularly important for microbial mats, which compress an extremely broad range of metabolic potential into a small and dynamic system. H2 participates in many of these metabolic processes, including the major elemental cycling processes of photosynthesis, nitrogen fixation, sulfate reduction, and fermentation, and may therefore serve as a mediator of microbial interactions within the mat system. Collectively, the requirements of energy, electron transfer, and biomass element stoichiometry suggest quantitative relationships among the major element cycling processes, as regards H2 metabolism We determined experimentally the major contributions to 32 cycling in hypersaline microbial mats from Baja California, Mexico, and compared them to predicted relationships. Fermentation under dark, anoxic conditions is quantitatively the most important mechanism of H2 production, consistent with expectations for non-heterocystous mats such as those under study. Up to 16% of reducing equivalents fixed by photosynthesis during the day may be released by this mechanism. The direct contribution of nitrogen fixation to H2 production is small in comparison, but this process may indirectly stimulate substantial H2 generation, by requiring higher rates of fermentation. Sulfate reduction, aerobic consumption, diffusive and ebulitive loss, and possibly H2-based photoreduction of CO2 serve as the principal H2 sinks. Collectively, these processes interact to create an orders-of-magnitude daily variation in H2 concentrations and fluxes, and thereby in the oxidation-reduction potential that is imposed on microbial processes occuring within the mat matrix.

  11. Pig and guinea pig skin as surrogates for human in vitro penetration studies: a quantitative review.

    PubMed

    Barbero, Ana M; Frasch, H Frederick

    2009-02-01

    Both human and animal skin in vitro models are used to predict percutaneous penetration in humans. The objective of this review is a quantitative comparison of permeability and lag time measurements between human and animal skin, including an evaluation of the intra and inter species variability. We limit our focus to domestic pig and rodent guinea pig skin as surrogates for human skin, and consider only studies in which both animal and human penetration of a given chemical were measured jointly in the same lab. When the in vitro permeability of pig and human skin were compared, the Pearson product moment correlation coefficient (r) was 0.88 (P<0.0001), with an intra species average coefficient of variation of skin permeability of 21% for pig and 35% for human, and an inter species average coefficient of variation of 37% for the set of studied compounds (n=41). The lag times of pig skin and human skin did not correlate (r=0.35, P=0.26). When the in vitro permeability of guinea pig and human skin were compared, r=0.96 (P<0.0001), with an average intra species coefficient of variation of 19% for guinea pig and 24% for human, and an inter species coefficient of variation of permeability of 41% for the set of studied compounds (n=15). Lag times of guinea pig and human skin correlated (r=0.90, P<0.0001, n=12). When permeability data was not reported a factor of difference (FOD) of animal to human skin was calculated for pig skin (n=50) and guinea pig skin (n=25). For pig skin, 80% of measurements fell within the range 0.3

  12. Asian couples in negotiation: a mixed-method observational study of cultural variations across five Asian regions.

    PubMed

    Lee, Wai-Yung; Nakamura, Shin-Ichi; Chung, Moon Ja; Chun, Young Ju; Fu, Meng; Liang, Shu-Chuan; Liu, Cui-Lian

    2013-09-01

    The purpose of this study was to explore variations in how contemporary couples from five different Asian regions negotiate disagreements. Video recordings of 50 couples (10 each from Japan, Korea, Mainland China, Taiwan, and Hong Kong) discussing unresolved disagreements provided raw data for quantitative and qualitative analyses. First, teams of coders from each region used a common protocol to make quantitative ratings of content themes and interaction patterns for couples from their own region. An interregional panel of investigators then performed in-depth qualitative reviews for half of these cases, noting cultural differences not only in observed patterns of couple behavior but also in their own perceptions of these patterns. Both quantitative and qualitative analyses revealed clear regional differences on dimensions such as overt negativity, demand-withdraw interaction, and collaboration. The qualitative results also provided a richer, more nuanced view of other (e.g., gender-linked) conflict management patterns that the quantitative analyses did not capture. Inconsistencies between qualitative and quantitative data and between the qualitative observations of investigators from different regions were most pronounced for couples from Korea and Japan, whose conflict styles were subtler and less direct than those of couples from the other regions. © FPI, Inc.

  13. MaGelLAn 1.0: a software to facilitate quantitative and population genetic analysis of maternal inheritance by combination of molecular and pedigree information.

    PubMed

    Ristov, Strahil; Brajkovic, Vladimir; Cubric-Curik, Vlatka; Michieli, Ivan; Curik, Ino

    2016-09-10

    Identification of genes or even nucleotides that are responsible for quantitative and adaptive trait variation is a difficult task due to the complex interdependence between a large number of genetic and environmental factors. The polymorphism of the mitogenome is one of the factors that can contribute to quantitative trait variation. However, the effects of the mitogenome have not been comprehensively studied, since large numbers of mitogenome sequences and recorded phenotypes are required to reach the adequate power of analysis. Current research in our group focuses on acquiring the necessary mitochondria sequence information and analysing its influence on the phenotype of a quantitative trait. To facilitate these tasks we have produced software for processing pedigrees that is optimised for maternal lineage analysis. We present MaGelLAn 1.0 (maternal genealogy lineage analyser), a suite of four Python scripts (modules) that is designed to facilitate the analysis of the impact of mitogenome polymorphism on quantitative trait variation by combining molecular and pedigree information. MaGelLAn 1.0 is primarily used to: (1) optimise the sampling strategy for molecular analyses; (2) identify and correct pedigree inconsistencies; and (3) identify maternal lineages and assign the corresponding mitogenome sequences to all individuals in the pedigree, this information being used as input to any of the standard software for quantitative genetic (association) analysis. In addition, MaGelLAn 1.0 allows computing the mitogenome (maternal) effective population sizes and probability of mitogenome (maternal) identity that are useful for conservation management of small populations. MaGelLAn is the first tool for pedigree analysis that focuses on quantitative genetic analyses of mitogenome data. It is conceived with the purpose to significantly reduce the effort in handling and preparing large pedigrees for processing the information linked to maternal lines. The software source code, along with the manual and the example files can be downloaded at http://lissp.irb.hr/software/magellan-1-0/ and https://github.com/sristov/magellan .

  14. Diurnal variations in maize and soybean vegetation indices from continuous measurements of ground-based spectral reflectance

    NASA Astrophysics Data System (ADS)

    Arkebauer, T. J.; Walter-Shea, E. A.

    2017-12-01

    Vegetation indices, based on canopy spectral reflectance, are widely used to infer physical and biological characteristics of vegetation. Understanding the changes in remotely sensed signals as vegetation responds to its changing environment is essential for full assessment of canopy structure and function. Canopy-level reflectance has been measured at Nebraska AmeriFlux sites US-Ne1, US-Ne2 and US-Ne3 for most years since flux measurements were initiated in 2001. Tower-mounted spectral sensors provided 10-minute averaged reflectance (in PAR and NIR spectral regions) every half hour through the growing season for maize and soybean. Canopy reflectance varied over diurnal and seasonal time periods which led to variations in vegetation indices. One source of variation is due to the interaction of incident solar radiant energy with canopy structure (e.g., reflectance varies with changes in solar zenith angle and direct beam fraction, vegetative fraction, and leaf angle distribution). Another source of variation results from changes in canopy function (e.g., fluctuations in gross primary production and invocation of photoprotective mechanisms with plant stress). We present here a series of diurnal "patterns" of vegetation indices (including Normalized Difference Vegetation Index and Chlorophyll Index) for maize and soybean under mostly clear sky conditions. We demonstrate that diurnal patterns change as the LAI of the canopy changes through the course of the growing season in a somewhat predictable pattern from plant emergence (low vegetative cover) through peak green LAI (full vegetation cover). However, there are changes in the diurnal pattern that we have yet to fully understand; this variation in pattern may indicate variation in canopy function. Initially, we have explored the pattern changes qualitatively and are currently developing more quantitative approaches.

  15. A stochastic inference of de novo CNV detection and association test in multiplex schizophrenia families.

    PubMed

    Wang, Shi-Heng; Chen, Wei J; Tsai, Yu-Chin; Huang, Yung-Hsiang; Hwu, Hai-Gwo; Hsiao, Chuhsing K

    2013-01-01

    The copy number variation (CNV) is a type of genetic variation in the genome. It is measured based on signal intensity measures and can be assessed repeatedly to reduce the uncertainty in PCR-based typing. Studies have shown that CNVs may lead to phenotypic variation and modification of disease expression. Various challenges exist, however, in the exploration of CNV-disease association. Here we construct latent variables to infer the discrete CNV values and to estimate the probability of mutations. In addition, we propose to pool rare variants to increase the statistical power and we conduct family studies to mitigate the computational burden in determining the composition of CNVs on each chromosome. To explore in a stochastic sense the association between the collapsing CNV variants and disease status, we utilize a Bayesian hierarchical model incorporating the mutation parameters. This model assigns integers in a probabilistic sense to the quantitatively measured copy numbers, and is able to test simultaneously the association for all variants of interest in a regression framework. This integrative model can account for the uncertainty in copy number assignment and differentiate if the variation was de novo or inherited on the basis of posterior probabilities. For family studies, this model can accommodate the dependence within family members and among repeated CNV data. Moreover, the Mendelian rule can be assumed under this model and yet the genetic variation, including de novo and inherited variation, can still be included and quantified directly for each individual. Finally, simulation studies show that this model has high true positive and low false positive rates in the detection of de novo mutation.

  16. Visibility vs. biomass in flowers: exploring corolla allocation in Mediterranean entomophilous plants

    PubMed Central

    Herrera, Javier

    2009-01-01

    Background and Aims While pollinators may in general select for large, morphologically uniform floral phenotypes, drought stress has been proposed as a destabilizing force that may favour small flowers and/or promote floral variation within species. Methods The general validity of this concept was checked by surveying a taxonomically diverse array of 38 insect-pollinated Mediterranean species. The interplay between fresh biomass investment, linear size and percentage corolla allocation was studied. Allometric relationships between traits were investigated by reduced major-axis regression, and qualitative correlates of floral variation explored using general linear-model MANOVA. Key Results Across species, flowers were perfectly isometrical with regard to corolla allocation (i.e. larger flowers were just scaled-up versions of smaller ones and vice versa). In contrast, linear size and biomass varied allometrically (i.e. there were shape variations, in addition to variations in size). Most floral variables correlated positively and significantly across species, except corolla allocation, which was largely determined by family membership and floral symmetry. On average, species with bilateral flowers allocated more to the corolla than those with radial flowers. Plant life-form was immaterial to all of the studied traits. Flower linear size variation was in general low among conspecifics (coefficients of variation around 10 %), whereas biomass was in general less uniform (e.g. 200–400 mg in Cistus salvifolius). Significant among-population differences were detected for all major quantitative floral traits. Conclusions Flower miniaturization can allow an improved use of reproductive resources under prevailingly stressful conditions. The hypothesis that flower size reflects a compromise between pollinator attraction, water requirements and allometric constraints among floral parts is discussed. PMID:19258340

  17. The perception of three-dimensionality across continuous surfaces

    NASA Technical Reports Server (NTRS)

    Stevens, Kent A.

    1989-01-01

    The apparent three-dimensionality of a viewed surface presumably corresponds to several internal preceptual quantities, such as surface curvature, local surface orientation, and depth. These quantities are mathematically related for points within the silhouette bounds of a smooth, continuous surface. For instance, surface curvature is related to the rate of change of local surface orientation, and surface orientation is related to the local gradient of distance. It is not clear to what extent these 3D quantities are determined directly from image information rather than indirectly from mathematically related forms, by differentiation or by integration within boundary constraints. An open empirical question, for example, is to what extent surface curvature is perceived directly, and to what extent it is quantitative rather than qualitative. In addition to surface orientation and curvature, one derives an impression of depth, i.e., variations in apparent egocentric distance. A static orthographic image is essentially devoid of depth information, and any quantitative depth impression must be inferred from surface orientation and other sources. Such conversion of orientation to depth does appear to occur, and even to prevail over stereoscopic depth information under some circumstances.

  18. Combined surface-enhanced Raman spectroscopy biotags and microfluidic platform for quantitative ratiometric discrimination between noncancerous and cancerous cells in flow

    NASA Astrophysics Data System (ADS)

    Pallaoro, Alessia; Hoonejani, Mehran R.; Braun, Gary B.; Meinhart, Carl; Moskovits, Martin

    2013-01-01

    Surface-enhanced Raman spectroscopy (SERS) biotags (SBTs) that carry peptides as cell recognition moieties were made from polymer-encapsulated silver nanoparticle dimers, infused with unique Raman reporter molecules. We previously demonstrated their potential use for identification of malignant cells, a central goal in cancer research, through a multiplexed, ratiometric method that can confidently distinguish between cancerous and noncancerous epithelial prostate cells in vitro based on receptor overexpression. Progress has been made toward the application of this quantitative methodology for the identification of cancer cells in a microfluidic flow-focusing device. Beads are used as cell mimics to evaluate the devices. Cells (and beads) are simultaneously incubated with two sets of SBTs while in suspension, then injected into the device for laser interrogation under flow. Each cell event is characterized by a composite Raman spectrum, deconvoluted into its single components to ultimately determine their relative contribution. We have found that using SBTs ratiometrically can provide cell identification in flow, insensitive to normal causes of uncertainty in optical measurements such as variations in focal plane, cell concentration, autofluorescence, and turbidity.

  19. Analysis and implications of mutational variation.

    PubMed

    Keightley, Peter D; Halligan, Daniel L

    2009-06-01

    Variation from new mutations is important for several questions in quantitative genetics. Key parameters are the genomic mutation rate and the distribution of effects of mutations (DEM), which determine the amount of new quantitative variation that arises per generation from mutation (V(M)). Here, we review methods and empirical results concerning mutation accumulation (MA) experiments that have shed light on properties of mutations affecting quantitative traits. Surprisingly, most data on fitness traits from laboratory assays of MA lines indicate that the DEM is platykurtic in form (i.e., substantially less leptokurtic than an exponential distribution), and imply that most variation is produced by mutations of moderate to large effect. This finding contrasts with results from MA or mutagenesis experiments in which mutational changes to the DNA can be assayed directly, which imply that the vast majority of mutations have very small phenotypic effects, and that the distribution has a leptokurtic form. We compare these findings with recent approaches that attempt to infer the DEM for fitness based on comparing the frequency spectra of segregating nucleotide polymorphisms at putatively neutral and selected sites in population samples. When applied to data for humans and Drosophila, these analyses also indicate that the DEM is strongly leptokurtic. However, by combining the resultant estimates of parameters of the DEM with estimates of the mutation rate per nucleotide, the predicted V(M) for fitness is only a tiny fraction of V(M) observed in MA experiments. This discrepancy can be explained if we postulate that a few deleterious mutations of large effect contribute most of the mutational variation observed in MA experiments and that such mutations segregate at very low frequencies in natural populations, and effectively are never seen in population samples.

  20. Variation in life-history traits and their plasticities to elevational transplantation among seed families suggests potential for adaptative evolution of 15 tropical plant species to climate change.

    PubMed

    Ensslin, Andreas; Fischer, Markus

    2015-08-01

    • Because not all plant species will be able to move in response to global warming, adaptive evolution matters largely for plant persistence. As prerequisites for adaptive evolution, genetic variation in and selection on phenotypic traits are needed, but these aspects have not been studied in tropical species. We studied how plants respond to transplantation to different elevations on Mt. Kilimanjaro, Tanzania, and whether there is quantitative genetic (among-seed family) variation in and selection on life-history traits and their phenotypic plasticity to the different environments.• We reciprocally transplanted seed families of 15 common tropical, herbaceous species of the montane and savanna vegetation zone at Mt. Kilimanjaro to a watered experimental garden in the montane (1450 m) and in the savanna (880 m) zone at the mountain's slope and measured performance, reproductive, and phenological traits.• Plants generally performed worse in the savanna garden, indicating that the savanna climate was more stressful and thus that plants may suffer from future climate warming. We found significant quantitative genetic variation in all measured performance and reproductive traits in both gardens and for several measures of phenotypic plasticity in response to elevational transplantation. Moreover, we found positive selection on traits at low and intermediate trait values levelling to neutral or negative selection at high values.• We conclude that common plants at Mt. Kilimanjaro express quantitative genetic variation in fitness-relevant traits and in their plasticities, suggesting potential to adapt evolutionarily to future climate warming and increased temperature variability. © 2015 Botanical Society of America, Inc.

  1. Selection of Valid Reference Genes for Reverse Transcription Quantitative PCR Analysis in Heliconius numata (Lepidoptera: Nymphalidae)

    PubMed Central

    Chouteau, Mathieu; Whibley, Annabel; Joron, Mathieu; Llaurens, Violaine

    2016-01-01

    Identifying the genetic basis of adaptive variation is challenging in non-model organisms and quantitative real time PCR. is a useful tool for validating predictions regarding the expression of candidate genes. However, comparing expression levels in different conditions requires rigorous experimental design and statistical analyses. Here, we focused on the neotropical passion-vine butterflies Heliconius, non-model species studied in evolutionary biology for their adaptive variation in wing color patterns involved in mimicry and in the signaling of their toxicity to predators. We aimed at selecting stable reference genes to be used for normalization of gene expression data in RT-qPCR analyses from developing wing discs according to the minimal guidelines described in Minimum Information for publication of Quantitative Real-Time PCR Experiments (MIQE). To design internal RT-qPCR controls, we studied the stability of expression of nine candidate reference genes (actin, annexin, eF1α, FK506BP, PolyABP, PolyUBQ, RpL3, RPS3A, and tubulin) at two developmental stages (prepupal and pupal) using three widely used programs (GeNorm, NormFinder and BestKeeper). Results showed that, despite differences in statistical methods, genes RpL3, eF1α, polyABP, and annexin were stably expressed in wing discs in late larval and pupal stages of Heliconius numata. This combination of genes may be used as a reference for a reliable study of differential expression in wings for instance for genes involved in important phenotypic variation, such as wing color pattern variation. Through this example, we provide general useful technical recommendations as well as relevant statistical strategies for evolutionary biologists aiming to identify candidate-genes involved adaptive variation in non-model organisms. PMID:27271971

  2. A Quantitative Investigation of Stakeholder Variation in Training Program Evaluation.

    ERIC Educational Resources Information Center

    Michalski, Greg V.

    A survey was conducted to investigate variation in stakeholder perceptions of training results and evaluation within the context of a high-technology product development firm (the case organization). A scannable questionnaire survey booklet was developed and scanned data were exported and analyzed. Based on an achieved sample of 280 (70% response…

  3. Who Benefits from Volunteering? Variations in Perceived Benefits

    ERIC Educational Resources Information Center

    Morrow-Howell, Nancy; Hong, Song-Iee; Tang, Fengyan

    2009-01-01

    Purpose: The purpose of this study was to document the benefits of volunteering perceived by older adults and to explain variation in these self-perceived benefits. Design and Methods: This is a quantitative study of 13 volunteer programs and 401 older adults serving in those programs. Program directors completed telephone interviews, and older…

  4. Quantitative gene-gene and gene-environment mapping for leaf shape variation using tree-based models

    USDA-ARS?s Scientific Manuscript database

    Leaf shape traits have long been a focus of many disciplines, but searching for complex genetic and environmental interactive mechanisms regulating leaf shape variation has not yet been well developed. The question of the respective roles of gene and environment and how they interplay to modulate l...

  5. Quantifying heterogeneity in human tumours using MRI and PET.

    PubMed

    Asselin, Marie-Claude; O'Connor, James P B; Boellaard, Ronald; Thacker, Neil A; Jackson, Alan

    2012-03-01

    Most tumours, even those of the same histological type and grade, demonstrate considerable biological heterogeneity. Variations in genomic subtype, growth factor expression and local microenvironmental factors can result in regional variations within individual tumours. For example, localised variations in tumour cell proliferation, cell death, metabolic activity and vascular structure will be accompanied by variations in oxygenation status, pH and drug delivery that may directly affect therapeutic response. Documenting and quantifying regional heterogeneity within the tumour requires histological or imaging techniques. There is increasing evidence that quantitative imaging biomarkers can be used in vivo to provide important, reproducible and repeatable estimates of tumoural heterogeneity. In this article we review the imaging methods available to provide appropriate biomarkers of tumour structure and function. We also discuss the significant technical issues involved in the quantitative estimation of heterogeneity and the range of descriptive metrics that can be derived. Finally, we have reviewed the existing clinical evidence that heterogeneity metrics provide additional useful information in drug discovery and development and in clinical practice. Copyright © 2012 Elsevier Ltd. All rights reserved.

  6. Quantitative evaluation of intensive remedial action using long-term monitoring and tracer data at a DNAPL contaminated site, Wonju, Korea

    NASA Astrophysics Data System (ADS)

    Lee, S. S.; Kim, H. J.; Kim, M. O.; Lee, K.; Lee, K. K.

    2016-12-01

    A study finding evidence of remediation represented on monitoring data before and after in site intensive remedial action was performed with various quantitative evaluation methods such as mass discharge analysis, tracer data, statistical trend analysis, and analytical solutions at DNAPL contaminated site, Wonju, Korea. Remediation technologies such as soil vapor extraction, soil flushing, biostimulation, and pump-and-treat have been applied to eliminate the contaminant sources of trichloroethylene (TCE) and to prevent the migration of TCE plume from remediation target zones. Prior to the remediation action, the concentration and mass discharges of TCE at all transects were affected by seasonal recharge variation and residual DNAPLs sources. After the remediation, the effect of remediation took place clearly at the main source zone and industrial complex. By tracing a time-series of plume evolution, a greater variation in the TCE concentrations was detected at the plumes near the source zones compared to the relatively stable plumes in the downstream. The removal amount of the residual source mass during the intensive remedial action was estimated to evaluate the efficiency of the intensive remedial action using analytical solution. From results of quantitative evaluation using analytical solution, it is assessed that the intensive remedial action had effectively performed with removal efficiency of 70% for the residual source mass during the remediation period. Analytical solution which can consider and quantify the impacts of partial mass reduction have been proven to be useful tools for quantifying unknown contaminant source mass and verifying dissolved concentration at the DNAPL contaminated site and evaluating the efficiency of remediation using long-term monitoring data. Acknowledgement : This subject was supported by the Korea Ministry of Environment under "GAIA project (173-092-009) and (201400540010)", R&D Project on Enviornmental Management of Geologic CO2 storage" from the KEITI (Project number:2014001810003).

  7. Prospective in (Primate) Dental Analysis through Tooth 3D Topographical Quantification

    PubMed Central

    Guy, Franck; Gouvard, Florent; Boistel, Renaud; Euriat, Adelaïde; Lazzari, Vincent

    2013-01-01

    The occlusal morphology of the teeth is mostly determined by the enamel-dentine junction morphology; the enamel-dentine junction plays the role of a primer and conditions the formation of the occlusal enamel reliefs. However, the accretion of the enamel cap yields thickness variations that alter the morphology and the topography of the enamel–dentine junction (i.e., the differential deposition of enamel by the ameloblasts create an external surface that does not necessarily perfectly parallel the enamel–dentine junction). This self-reliant influence of the enamel on tooth morphology is poorly understood and still under-investigated. Studies considering the relationship between enamel and dentine morphologies are rare, and none of them tackled this relationship in a quantitative way. Major limitations arose from: (1) the difficulties to characterize the tooth morphology in its comprehensive tridimensional aspect and (2) practical issues in relating enamel and enamel–dentine junction quantitative traits. We present new aspects of form representation based exclusively on 3D analytical tools and procedures. Our method is applied to a set of 21 unworn upper second molars belonging to eight extant anthropoid genera. Using geometrical analysis of polygonal meshes representatives of the tooth form, we propose a 3D dataset that constitutes a detailed characterization of the enamel and of the enamel–dentine junction morphologies. Also, for the first time, to our knowledge, we intend to establish a quantitative method for comparing enamel and enamel–dentine junction surfaces descriptors (elevation, inclination, orientation, etc.). New indices that allow characterizing the occlusal morphology are proposed and discussed. In this note, we present technical aspects of our method with the example of anthropoid molars. First results show notable individual variations and taxonomic heterogeneities for the selected topographic parameters and for the pattern and strength of association between enamel–dentine junction and enamel, the enamel cap altering in different ways the “transcription” of the enamel–dentine junction morphology. PMID:23826088

  8. Joint analysis of quantitative trait loci and major-effect causative mutations affecting meat quality and carcass composition traits in pigs.

    PubMed

    Cherel, Pierre; Pires, José; Glénisson, Jérôme; Milan, Denis; Iannuccelli, Nathalie; Hérault, Frédéric; Damon, Marie; Le Roy, Pascale

    2011-08-29

    Detection of quantitative trait loci (QTLs) affecting meat quality traits in pigs is crucial for the design of efficient marker-assisted selection programs and to initiate efforts toward the identification of underlying polymorphisms. The RYR1 and PRKAG3 causative mutations, originally identified from major effects on meat characteristics, can be used both as controls for an overall QTL detection strategy for diversely affected traits and as a scale for detected QTL effects. We report on a microsatellite-based QTL detection scan including all autosomes for pig meat quality and carcass composition traits in an F2 population of 1,000 females and barrows resulting from an intercross between a Pietrain and a Large White-Hampshire-Duroc synthetic sire line. Our QTL detection design allowed side-by-side comparison of the RYR1 and PRKAG3 mutation effects seen as QTLs when segregating at low frequencies (0.03-0.08), with independent QTL effects detected from most of the same population, excluding any carrier of these mutations. Large QTL effects were detected in the absence of the RYR1 and PRKGA3 mutations, accounting for 12.7% of phenotypic variation in loin colour redness CIE-a* on SSC6 and 15% of phenotypic variation in glycolytic potential on SSC1. We detected 8 significant QTLs with effects on meat quality traits and 20 significant QTLs for carcass composition and growth traits under these conditions. In control analyses including mutation carriers, RYR1 and PRKAG3 mutations were detected as QTLs, from highly significant to suggestive, and explained 53% to 5% of the phenotypic variance according to the trait. Our results suggest that part of muscle development and backfat thickness effects commonly attributed to the RYR1 mutation may be a consequence of linkage with independent QTLs affecting those traits. The proportion of variation explained by the most significant QTLs detected in this work is close to the influence of major-effect mutations on the least affected traits, but is one order of magnitude lower than effect on variance of traits primarily affected by these causative mutations. This suggests that uncovering physiological traits directly affected by genetic polymorphisms would be an appropriate approach for further characterization of QTLs.

  9. Joint analysis of quantitative trait loci and major-effect causative mutations affecting meat quality and carcass composition traits in pigs

    PubMed Central

    2011-01-01

    Background Detection of quantitative trait loci (QTLs) affecting meat quality traits in pigs is crucial for the design of efficient marker-assisted selection programs and to initiate efforts toward the identification of underlying polymorphisms. The RYR1 and PRKAG3 causative mutations, originally identified from major effects on meat characteristics, can be used both as controls for an overall QTL detection strategy for diversely affected traits and as a scale for detected QTL effects. We report on a microsatellite-based QTL detection scan including all autosomes for pig meat quality and carcass composition traits in an F2 population of 1,000 females and barrows resulting from an intercross between a Pietrain and a Large White-Hampshire-Duroc synthetic sire line. Our QTL detection design allowed side-by-side comparison of the RYR1 and PRKAG3 mutation effects seen as QTLs when segregating at low frequencies (0.03-0.08), with independent QTL effects detected from most of the same population, excluding any carrier of these mutations. Results Large QTL effects were detected in the absence of the RYR1 and PRKGA3 mutations, accounting for 12.7% of phenotypic variation in loin colour redness CIE-a* on SSC6 and 15% of phenotypic variation in glycolytic potential on SSC1. We detected 8 significant QTLs with effects on meat quality traits and 20 significant QTLs for carcass composition and growth traits under these conditions. In control analyses including mutation carriers, RYR1 and PRKAG3 mutations were detected as QTLs, from highly significant to suggestive, and explained 53% to 5% of the phenotypic variance according to the trait. Conclusions Our results suggest that part of muscle development and backfat thickness effects commonly attributed to the RYR1 mutation may be a consequence of linkage with independent QTLs affecting those traits. The proportion of variation explained by the most significant QTLs detected in this work is close to the influence of major-effect mutations on the least affected traits, but is one order of magnitude lower than effect on variance of traits primarily affected by these causative mutations. This suggests that uncovering physiological traits directly affected by genetic polymorphisms would be an appropriate approach for further characterization of QTLs. PMID:21875434

  10. An automated and objective method for age partitioning of reference intervals based on continuous centile curves.

    PubMed

    Yang, Qian; Lew, Hwee Yeong; Peh, Raymond Hock Huat; Metz, Michael Patrick; Loh, Tze Ping

    2016-10-01

    Reference intervals are the most commonly used decision support tool when interpreting quantitative laboratory results. They may require partitioning to better describe subpopulations that display significantly different reference values. Partitioning by age is particularly important for the paediatric population since there are marked physiological changes associated with growth and maturation. However, most partitioning methods are either technically complex or require prior knowledge of the underlying physiology/biological variation of the population. There is growing interest in the use of continuous centile curves, which provides seamless laboratory reference values as a child grows, as an alternative to rigidly described fixed reference intervals. However, the mathematical functions that describe these curves can be complex and may not be easily implemented in laboratory information systems. Hence, the use of fixed reference intervals is expected to continue for a foreseeable time. We developed a method that objectively proposes optimised age partitions and reference intervals for quantitative laboratory data (http://research.sph.nus.edu.sg/pp/ppResult.aspx), based on the sum of gradient that best describes the underlying distribution of the continuous centile curves. It is hoped that this method may improve the selection of age intervals for partitioning, which is receiving increasing attention in paediatric laboratory medicine. Copyright © 2016 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.

  11. Detecting Lung Diseases from Exhaled Aerosols: Non-Invasive Lung Diagnosis Using Fractal Analysis and SVM Classification

    PubMed Central

    Xi, Jinxiang; Zhao, Weizhong; Yuan, Jiayao Eddie; Kim, JongWon; Si, Xiuhua; Xu, Xiaowei

    2015-01-01

    Background Each lung structure exhales a unique pattern of aerosols, which can be used to detect and monitor lung diseases non-invasively. The challenges are accurately interpreting the exhaled aerosol fingerprints and quantitatively correlating them to the lung diseases. Objective and Methods In this study, we presented a paradigm of an exhaled aerosol test that addresses the above two challenges and is promising to detect the site and severity of lung diseases. This paradigm consists of two steps: image feature extraction using sub-regional fractal analysis and data classification using a support vector machine (SVM). Numerical experiments were conducted to evaluate the feasibility of the breath test in four asthmatic lung models. A high-fidelity image-CFD approach was employed to compute the exhaled aerosol patterns under different disease conditions. Findings By employing the 10-fold cross-validation method, we achieved 100% classification accuracy among four asthmatic models using an ideal 108-sample dataset and 99.1% accuracy using a more realistic 324-sample dataset. The fractal-SVM classifier has been shown to be robust, highly sensitive to structural variations, and inherently suitable for investigating aerosol-disease correlations. Conclusion For the first time, this study quantitatively linked the exhaled aerosol patterns with their underlying diseases and set the stage for the development of a computer-aided diagnostic system for non-invasive detection of obstructive respiratory diseases. PMID:26422016

  12. Don't bet on it! Wagering as a measure of awareness in decision making under uncertainty.

    PubMed

    Konstantinidis, Emmanouil; Shanks, David R

    2014-12-01

    Can our decisions be guided by unconscious or implicit influences? According to the somatic marker hypothesis, emotion-based signals can guide our decisions in uncertain environments outside awareness. Postdecision wagering, in which participants make wagers on the outcomes of their decisions, has been recently proposed as an objective and sensitive measure of conscious content. In 5 experiments we employed variations of a classic decision-making assessment, the Iowa Gambling Task, in combination with wagering in order to investigate the role played by unconscious influences. We examined the validity of postdecision wagering by comparing it with alternative measures of conscious knowledge, specifically confidence ratings and quantitative questions. Consistent with a putative role for unconscious influences, in Experiments 2 and 3 we observed a lag between choice accuracy and the onset of advantageous wagering. However, the lag was eliminated by a change in the wagering payoff matrix (Experiment 2) and by a switch from a binary wager response to either a binary or a 4-point confidence response (Experiment 3), and wagering underestimated awareness compared to explicit quantitative questions (Experiments 1 and 4). Our results demonstrate the insensitivity of postdecision wagering as a direct measure of conscious knowledge and challenge the claim that implicit processes influence decision making under uncertainty. PsycINFO Database Record (c) 2014 APA, all rights reserved.

  13. Validation and Estimation of Additive Genetic Variation Associated with DNA Tests for Quantitative Beef Cattle Traits

    USDA-ARS?s Scientific Manuscript database

    The U.S. National Beef Cattle Evaluation Consortium (NBCEC) has been involved in the validation of commercial DNA tests for quantitative beef quality traits since their first appearance on the U.S. market in the early 2000s. The NBCEC Advisory Council initially requested that the NBCEC set up a syst...

  14. The effect of genotype and in utero environment on interindividual variation in neonate DNA methylomes.

    PubMed

    Teh, Ai Ling; Pan, Hong; Chen, Li; Ong, Mei-Lyn; Dogra, Shaillay; Wong, Johnny; MacIsaac, Julia L; Mah, Sarah M; McEwen, Lisa M; Saw, Seang-Mei; Godfrey, Keith M; Chong, Yap-Seng; Kwek, Kenneth; Kwoh, Chee-Keong; Soh, Shu-E; Chong, Mary F F; Barton, Sheila; Karnani, Neerja; Cheong, Clara Y; Buschdorf, Jan Paul; Stünkel, Walter; Kobor, Michael S; Meaney, Michael J; Gluckman, Peter D; Holbrook, Joanna D

    2014-07-01

    Integrating the genotype with epigenetic marks holds the promise of better understanding the biology that underlies the complex interactions of inherited and environmental components that define the developmental origins of a range of disorders. The quality of the in utero environment significantly influences health over the lifecourse. Epigenetics, and in particular DNA methylation marks, have been postulated as a mechanism for the enduring effects of the prenatal environment. Accordingly, neonate methylomes contain molecular memory of the individual in utero experience. However, interindividual variation in methylation can also be a consequence of DNA sequence polymorphisms that result in methylation quantitative trait loci (methQTLs) and, potentially, the interaction between fixed genetic variation and environmental influences. We surveyed the genotypes and DNA methylomes of 237 neonates and found 1423 punctuate regions of the methylome that were highly variable across individuals, termed variably methylated regions (VMRs), against a backdrop of homogeneity. MethQTLs were readily detected in neonatal methylomes, and genotype alone best explained ∼25% of the VMRs. We found that the best explanation for 75% of VMRs was the interaction of genotype with different in utero environments, including maternal smoking, maternal depression, maternal BMI, infant birth weight, gestational age, and birth order. Our study sheds new light on the complex relationship between biological inheritance as represented by genotype and individual prenatal experience and suggests the importance of considering both fixed genetic variation and environmental factors in interpreting epigenetic variation. © 2014 Teh et al.; Published by Cold Spring Harbor Laboratory Press.

  15. A quantitative analysis of phenotypic variations of Metrosideros polymorpha within and across populations along environmental gradients on Mauna Loa, Hawaii.

    PubMed

    Tsujii, Yuki; Onoda, Yusuke; Izuno, Ayako; Isagi, Yuji; Kitayama, Kanehiro

    2016-04-01

    Metrosideros polymorpha, a dominant tree species in the Hawaiian Islands, shows an extreme phenotypic polymorphism both across gradients of climatic/edaphic conditions and within populations, making it a potentially useful model species for evolutionary study. In order to understand how the phenotypic diversity is maintained within populations as well as across populations, we examined the diversities of several leaf and stem functional traits across five elevations and two soil substrates on the volcanic mountain of Mauna Loa, on the island of Hawaii. Leaf dry mass per area (LMA), a key leaf functional trait, was particularly focused on and analyzed in relation to its underlying components-namely, tissue LMA and trichome LMA (LMA = tissue LMA + trichome LMA). Across populations, tissue LMA increased linearly with elevation while trichome LMA showed unimodal patterns with elevation, which were better correlated with temperature and rainfall, respectively. Substantial phenotypic variations were also found within populations. Interestingly, the variations of tissue LMA were often negatively correlated to trichome LMA within populations, which contrasts with the cross-populations pattern, where a strong positive correlation between tissue LMA and trichome LMA was found. This suggests that phenotypic variations within populations were substantially influenced by local ecological processes. Soil depth (an indicator of local water availability) and tree size (an indicator of colonized timing) modestly explained the within-population variations, implying other local environmental factors and/or random processes are also important in local phenotypic diversity. This study provides an insight about how phenotypic diversity of plant species is maintained from local to landscape levels.

  16. Determination of mean pressure from PIV in compressible flows using the Reynolds-averaging approach

    NASA Astrophysics Data System (ADS)

    van Gent, Paul L.; van Oudheusden, Bas W.; Schrijer, Ferry F. J.

    2018-03-01

    The feasibility of computing the flow pressure on the basis of PIV velocity data has been demonstrated abundantly for low-speed conditions. The added complications occurring for high-speed compressible flows have, however, so far proved to be largely inhibitive for the accurate experimental determination of instantaneous pressure. Obtaining mean pressure may remain a worthwhile and realistic goal to pursue. In a previous study, a Reynolds-averaging procedure was developed for this, under the moderate-Mach-number assumption that density fluctuations can be neglected. The present communication addresses the accuracy of this assumption, and the consistency of its implementation, by evaluating of the relevance of the different contributions resulting from the Reynolds-averaging. The methodology involves a theoretical order-of-magnitude analysis, complemented with a quantitative assessment based on a simulated and a real PIV experiment. The assessments show that it is sufficient to account for spatial variations in the mean velocity and the Reynolds-stresses and that temporal and spatial density variations (fluctuations and gradients) are of secondary importance and comparable order-of-magnitude. This result permits to simplify the calculation of mean pressure from PIV velocity data and to validate the approximation of neglecting temporal and spatial density variations without having access to reference pressure data.

  17. nrDNA:mtDNA copy number ratios as a comparative metric for evolutionary and conservation genetics.

    PubMed

    Goodall-Copestake, William Paul

    2018-05-12

    Identifying genetic cues of functional relevance is key to understanding the drivers of evolution and increasingly important for the conservation of biodiversity. This study introduces nuclear ribosomal DNA (nrDNA) to mitochondrial DNA (mtDNA) copy number ratios as a metric with which to screen for this functional genetic variation prior to more extensive omics analyses. To illustrate the metric, quantitative PCR was used to estimate nrDNA (18S) to mtDNA (16S) copy number ratios in muscle tissue from samples of two zooplankton species: Salpa thompsoni caught near Elephant Island (Southern Ocean) and S. fusiformis sampled off Gough Island (South Atlantic). Average 18S:16S ratios in these samples were 9:1 and 3:1, respectively. nrDNA 45S arrays and mitochondrial genomes were then deep sequenced to uncover the sources of intra-individual genetic variation underlying these 18S:16S copy number differences. The deep sequencing profiles obtained were consistent with genetic changes resulting from adaptive processes, including an expansion of nrDNA and damage to mtDNA in S. thompsoni, potentially in response to the polar environment. Beyond this example from zooplankton, nrDNA:mtDNA copy number ratios offer a promising metric to help identify genetic variation of functional relevance in animals more broadly.

  18. Atoll island hydrogeology: flow and freshwater occurrence in a tidally dominated system

    NASA Astrophysics Data System (ADS)

    Oberdorfer, June A.; Hogan, Patrick J.; Buddemeier, Robert W.

    1990-12-01

    A layered-aquifer model of groundwater occurrence in an atoll island was tested with a solute-transport numerical model. The computer model used, SUTRA, incorporates density-dependent flow. This can be significant in freshwater-saltwater interactions associated with the freshwater lens of an atoll island. Boundary conditions for the model included ocean and lagoon tidal variations. The model was calibrated to field data from Enjebi Island, Enewetak Atoll, and tested for sensitivity to a variety of parameters. This resulted in a hydraulic conductivity of 10 m day -1 for the surficial aquifer and 1000 m day -1 for the deeper aquifer; this combination of values gave an excellent reproduction of the tidal response data from test wells. The average salinity distribution was closely reproduced using a dispersivity of 0.02m. The computer simulation quantitatively supports the layered-aquifer model, including under conditions of density-dependent flow, and shows that tidal variations are the predominant driving force for flow beneath the island. The oscillating, vertical flow produced by the tidal variations creates an extensive mixing zone of brackish water. The layered-aquifer model with tidally driven flow is a significant improvement over the Ghyben-Herzberg-Dupuit model as it is conventionally applied to groundwater studies for many Pacific reef islands.

  19. A worldwide analysis of within-canopy variations in leaf structural, chemical and physiological traits across plant functional types

    PubMed Central

    Niinemets, Ülo; Keenan, Trevor F.; Hallik, Lea

    2018-01-01

    Summary Extensive within-canopy light gradients importantly affect photosynthetic productivity of leaves in different canopy positions and lead to light-dependent increases in foliage photosynthetic capacity per area (AA). However, the controls on AA variations by changes in underlying traits are poorly known. We constructed an unprecedented worldwide database including 831 within-canopy gradients with standardized light estimates for 304 species belonging to major vascular plant functional types, and analyzed within-canopy variations in 12 key foliage structural, chemical and physiological traits by quantitatively separating the contributions of different traits to photosynthetic acclimation. Although the light-dependent increase in AA is surprisingly similar in different plant functional types, they fundamentally differ in the share of the controls on AA by constituent traits. Species with high rates of canopy development and leaf turnover exhibiting highly dynamic light environments, actively change AA by nitrogen reallocation among and partitioning within leaves. In contrast, species with slow leaf turnover exhibit a passive AA acclimation response primarily determined by acclimation of leaf structure to growth light. This review emphasizes that different combinations of traits are responsible for within-canopy photosynthetic acclimation in different plant functional types and solves an old enigma of the role of mass- vs. area-based traits in vegetation acclimation. PMID:25318596

  20. Three-phase bone scintigraphy for diagnosis of Charcot neuropathic osteoarthropathy in the diabetic foot - does quantitative data improve diagnostic value?

    PubMed

    Fosbøl, M; Reving, S; Petersen, E H; Rossing, P; Lajer, M; Zerahn, B

    2017-01-01

    To investigate whether inclusion of quantitative data on blood flow distribution compared with visual qualitative evaluation improve the reliability and diagnostic performance of 99 m Tc-hydroxymethylene diphosphate three-phase bone scintigraphy (TPBS) in patients suspected for charcot neuropathic osteoarthropathy (CNO) of the foot. A retrospective cohort study of TPBS performed on 148 patients with suspected acute CNO referred from a single specialized diabetes care centre. The quantitative blood flow distribution was calculated based on the method described by Deutsch et al. All scintigraphies were re-evaluated by independent, blinded observers twice with and without quantitative data on blood flow distribution at ankle and focus level, respectively. The diagnostic validity of TPBS was determined by subsequent review of clinical data and radiological examinations. A total of 90 patients (61%) had confirmed diagnosis of CNO. The sensitivity, specificity and accuracy of three-phase bone scintigraphy without/with quantitative data were 89%/88%, 58%/62% and 77%/78%, respectively. The intra-observer agreement improved significantly by adding quantitative data in the evaluation (Kappa value 0·79/0·94). The interobserver agreement was not significantly improved. Adding quantitative data on blood flow distribution in the interpretation of TBPS improves intra-observer variation, whereas no difference in interobserver variation was observed. The sensitivity of TPBS in the diagnosis of CNO is high, but holds limited specificity. Diagnostic performance does not improve using quantitative data in the evaluation. This may be due to the reference intervals applied in the study or the absence of a proper gold standard diagnostic procedure for comparison. © 2015 Scandinavian Society of Clinical Physiology and Nuclear Medicine. Published by John Wiley & Sons Ltd.

  1. Genetic variation and gene expression across multiple tissues and developmental stages in a nonhuman primate.

    PubMed

    Jasinska, Anna J; Zelaya, Ivette; Service, Susan K; Peterson, Christine B; Cantor, Rita M; Choi, Oi-Wa; DeYoung, Joseph; Eskin, Eleazar; Fairbanks, Lynn A; Fears, Scott; Furterer, Allison E; Huang, Yu S; Ramensky, Vasily; Schmitt, Christopher A; Svardal, Hannes; Jorgensen, Matthew J; Kaplan, Jay R; Villar, Diego; Aken, Bronwen L; Flicek, Paul; Nag, Rishi; Wong, Emily S; Blangero, John; Dyer, Thomas D; Bogomolov, Marina; Benjamini, Yoav; Weinstock, George M; Dewar, Ken; Sabatti, Chiara; Wilson, Richard K; Jentsch, J David; Warren, Wesley; Coppola, Giovanni; Woods, Roger P; Freimer, Nelson B

    2017-12-01

    By analyzing multitissue gene expression and genome-wide genetic variation data in samples from a vervet monkey pedigree, we generated a transcriptome resource and produced the first catalog of expression quantitative trait loci (eQTLs) in a nonhuman primate model. This catalog contains more genome-wide significant eQTLs per sample than comparable human resources and identifies sex- and age-related expression patterns. Findings include a master regulatory locus that likely has a role in immune function and a locus regulating hippocampal long noncoding RNAs (lncRNAs), whose expression correlates with hippocampal volume. This resource will facilitate genetic investigation of quantitative traits, including brain and behavioral phenotypes relevant to neuropsychiatric disorders.

  2. Identifying Preserved Storm Events on Beaches from Trenches and Cores

    NASA Astrophysics Data System (ADS)

    Wadman, H. M.; Gallagher, E. L.; McNinch, J.; Reniers, A.; Koktas, M.

    2014-12-01

    Recent research suggests that even small scale variations in grain size in the shallow stratigraphy of sandy beaches can significantly influence large-scale morphology change. However, few quantitative studies of variations in shallow stratigraphic layers, as differentiated by variations in mean grain size, have been conducted, in no small part due to the difficulty of collecting undisturbed sediment cores in the energetic lower beach and swash zone. Due to this lack of quantitative stratigraphic grain size data, most coastal morphology models assume that uniform grain sizes dominate sandy beaches, allowing for little to no temporal or spatial variations in grain size heterogeneity. In a first-order attempt to quantify small-scale, temporal and spatial variations in beach stratigraphy, thirty-five vibracores were collected at the USACE Field Research Facility (FRF), Duck, NC, in March-April of 2014 using the FRF's Coastal Research and Amphibious Buggy (CRAB). Vibracores were collected at set locations along a cross-shore profile from the toe of the dune to a water depth of ~1m in the surf zone. Vibracores were repeatedly collected from the same locations throughout a tidal cycle, as well as pre- and post a nor'easter event. In addition, two ~1.5m deep trenches were dug in the cross-shore and along-shore directions (each ~14m in length) after coring was completed to allow better interpretation of the stratigraphic sequences observed in the vibracores. The elevations of coherent stratigraphic layers, as revealed in vibracore-based fence diagrams and trench data, are used to relate specific observed stratigraphic sequences to individual storm events observed at the FRF. These data provide a first-order, quantitative examination of the small-scale temporal and spatial variability of shallow grain size along an open, sandy coastline. The data will be used to refine morphological model predictions to include variations in grain size and associated shallow stratigraphy.

  3. Frictional Magneto-Coulomb Drag in Graphene Double-Layer Heterostructures.

    PubMed

    Liu, Xiaomeng; Wang, Lei; Fong, Kin Chung; Gao, Yuanda; Maher, Patrick; Watanabe, Kenji; Taniguchi, Takashi; Hone, James; Dean, Cory; Kim, Philip

    2017-08-04

    Coulomb interaction between two closely spaced parallel layers of conductors can generate the frictional drag effect by interlayer Coulomb scattering. Employing graphene double layers separated by few-layer hexagonal boron nitride, we investigate density tunable magneto- and Hall drag under strong magnetic fields. The observed large magnetodrag and Hall-drag signals can be related with Laudau level filling status of the drive and drag layers. We find that the sign and magnitude of the drag resistivity tensor can be quantitatively correlated to the variation of magnetoresistivity tensors in the drive and drag layers, confirming a theoretical formula for magnetodrag in the quantum Hall regime. The observed weak temperature dependence and ∼B^{2} dependence of the magnetodrag are qualitatively explained by Coulomb scattering phase-space argument.

  4. Advances in cereal genomics and applications in crop breeding.

    PubMed

    Varshney, Rajeev K; Hoisington, David A; Tyagi, Akhilesh K

    2006-11-01

    Recent advances in cereal genomics have made it possible to analyse the architecture of cereal genomes and their expressed components, leading to an increase in our knowledge of the genes that are linked to key agronomically important traits. These studies have used molecular genetic mapping of quantitative trait loci (QTL) of several complex traits that are important in breeding. The identification and molecular cloning of genes underlying QTLs offers the possibility to examine the naturally occurring allelic variation for respective complex traits. Novel alleles, identified by functional genomics or haplotype analysis, can enrich the genetic basis of cultivated crops to improve productivity. Advances made in cereal genomics research in recent years thus offer the opportunities to enhance the prediction of phenotypes from genotypes for cereal breeding.

  5. Diurnal and Seasonal Variability of Uranus' Magnetopause under Different IMF

    NASA Astrophysics Data System (ADS)

    Cao, X.; Paty, C. S.

    2017-12-01

    In order to study the asymmetric structure of planetary magnetopause, we propose a quantitative form to measure the asymmetries of the magnetospheric boundaries. First, we use a numerical model to simulate the global magnetosphere of Uranus, which has an extreme dynamically asymmetric magnetosphere due to its large obliquity, its highly tilted and off centered dipole moment when interacting with the solar wind, under different IMF (interplanetary magnetic field) orientations. Based on the results of our model, we use the previous analytical model of planetary magnetopause to fit the magnetopause boundary of Uranus and analyze the characteristics of the magnetopause such as the variation of the flaring parameter and the cusp indentation, which give us an initial intuition of the asymmetric structure of the magnetopause. The result shows the asymmetry of the magnetopause is highly dependent on the seasons and the rotation of Uranus under different IMF orientations. The shape of the magnetopause also affected by the off-centered dipole moment. This study can be applicable for the prediction of the magnetopause boundary detection in future space missions.

  6. The affect of tissue depth variation on craniofacial reconstructions.

    PubMed

    Starbuck, John M; Ward, Richard E

    2007-10-25

    We examined the affect of tissue depth variation on the reconstruction of facial form, through the application of the American method, utilizing published tissue depth measurements for emaciated, normal, and obese faces. In this preliminary study, three reconstructions were created on reproductions of the same skull for each set of tissue depth measurements. The resulting morphological variation was measured quantitatively using the anthropometric craniofacial variability index (CVI). This method employs 16 standard craniofacial anthropometric measurements and the results reflect "pattern variation" or facial harmony. We report no appreciable variation in the quantitative measure of the pattern facial form obtained from the three different sets of tissue depths. Facial similarity was assessed qualitatively utilizing surveys of photographs of the three reconstructions. Surveys indicated that subjects frequently perceived the reconstructions as representing different individuals. This disagreement indicates that size of the face may blind observers to similarities in facial form. This research is significant because it illustrates the confounding effect that normal human variation contributes in the successful recognition of individuals from a representational three-dimensional facial reconstruction. Research results suggest that successful identification could be increased if multiple reconstructions were created which reflect a wide range of possible outcomes for facial form. The creation of multiple facial images, from a single skull, will be facilitated as computerized versions of facial reconstruction are further developed and refined.

  7. Genome-Wide Association Mapping and Genomic Prediction Elucidate the Genetic Architecture of Morphological Traits in Arabidopsis.

    PubMed

    Kooke, Rik; Kruijer, Willem; Bours, Ralph; Becker, Frank; Kuhn, André; van de Geest, Henri; Buntjer, Jaap; Doeswijk, Timo; Guerra, José; Bouwmeester, Harro; Vreugdenhil, Dick; Keurentjes, Joost J B

    2016-04-01

    Quantitative traits in plants are controlled by a large number of genes and their interaction with the environment. To disentangle the genetic architecture of such traits, natural variation within species can be explored by studying genotype-phenotype relationships. Genome-wide association studies that link phenotypes to thousands of single nucleotide polymorphism markers are nowadays common practice for such analyses. In many cases, however, the identified individual loci cannot fully explain the heritability estimates, suggesting missing heritability. We analyzed 349 Arabidopsis accessions and found extensive variation and high heritabilities for different morphological traits. The number of significant genome-wide associations was, however, very low. The application of genomic prediction models that take into account the effects of all individual loci may greatly enhance the elucidation of the genetic architecture of quantitative traits in plants. Here, genomic prediction models revealed different genetic architectures for the morphological traits. Integrating genomic prediction and association mapping enabled the assignment of many plausible candidate genes explaining the observed variation. These genes were analyzed for functional and sequence diversity, and good indications that natural allelic variation in many of these genes contributes to phenotypic variation were obtained. For ACS11, an ethylene biosynthesis gene, haplotype differences explaining variation in the ratio of petiole and leaf length could be identified. © 2016 American Society of Plant Biologists. All Rights Reserved.

  8. Association between VDR and ESR1 gene polymorphisms with bone and obesity phenotypes in Chinese male nuclear families.

    PubMed

    Gu, Jie-mei; Xiao, Wen-jin; He, Jin-wei; Zhang, Hao; Hu, Wei-wei; Hu, Yun-qiu; Li, Miao; Liu, Yu-juan; Fu, Wen-zhen; Yu, Jin-bo; Gao, Gao; Yue, Hua; Ke, Yao-hua; Zhang, Zhen-lin

    2009-12-01

    The goal of this study was to determine whether polymorphisms in the vitamin D receptor (VDR) and estrogen receptor alpha (ESR1) genes are associated with variations of peak bone mineral density (BMD) and obesity phenotypes in young Chinese men. A total of 1215 subjects from 400 Chinese nuclear families were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele-specific multiple PCR (ASM-PCR) analysis at the ApaI, FokI, and CDX2 sites in the VDR gene and the PvuII and XbaI sites in the ESR1 gene. BMD at the lumbar spine and hip, total fat mass, and total lean mass were measured using dual energy X-ray absorptiometry. The associations between VDR and ESR1 gene polymorphisms with peak BMD, body mass index (BMI), total fat mass, total lean mass, and percentage fat mass (PFM) were determined using quantitative transmission disequilibrium tests (QTDTs). Using QTDTs, no significant within-family associations were obtained between genotypes or haplotypes of the VDR and ESR1 genes and peak BMD. For the obesity phenotypes, the within-family associations were significant between CDX2 genotypes and BMI (P=0.046), fat mass (P=0.004), and PFM (P=0.020). Further, PvuII was significantly associated with the variation of fat mass and PFM (P=0.002 and P=0.039, respectively). A subsequent 1000 permutations were in agreement with these within-family association results. Our findings showed that VDR and ESR1 polymorphisms were associated with total fat mass in young Chinese men, but we failed to find a significant association between VDR and ESR1 genotypes and peak BMD. These findings suggested that the VDR and ESR1 genes are quantitative trait loci (QTL) underlying fat mass variation in young Chinese men.

  9. Qualification of a Quantitative Laryngeal Imaging System Using Videostroboscopy and Videokymography

    PubMed Central

    Popolo, Peter S.; Titze, Ingo R.

    2008-01-01

    Objectives: We sought to determine whether full-cycle glottal width measurements could be obtained with a quantitative laryngeal imaging system using videostroboscopy, and whether glottal width and vocal fold length measurements were repeatable and reliable. Methods: Synthetic vocal folds were phonated on a laboratory bench, and dynamic images were obtained in repeated trials by use of videostroboscopy and videokymography (VKG) with an imaging system equipped with a 2-point laser projection device for measuring absolute dimensions. Video images were also obtained with an industrial videoscope system with a built-in laser measurement capability. Maximum glottal width and vocal fold length were compared among these 3 methods. Results: The average variation in maximum glottal width measurements between stroboscopic data and VKG data was 3.10%. The average variations in width measurements between the clinical system and the industrial system were 1.93% (stroboscopy) and 3.49% (VKG). The variations in vocal fold length were similarly small. The standard deviations across trials were 0.29 mm for width and 0.48 mm for length (stroboscopy), 0.18 mm for width (VKG), and 0.25 mm for width and 0.84 mm for length (industrial). Conclusions: For stable, periodic vibration, the full extent of the glottal width can be reliably measured with the quantitative videostroboscopy system. PMID:18646436

  10. Natural Genetic Variation and Candidate Genes for Morphological Traits in Drosophila melanogaster

    PubMed Central

    Carreira, Valeria Paula; Mensch, Julián; Hasson, Esteban; Fanara, Juan José

    2016-01-01

    Body size is a complex character associated to several fitness related traits that vary within and between species as a consequence of environmental and genetic factors. Latitudinal and altitudinal clines for different morphological traits have been described in several species of Drosophila and previous work identified genomic regions associated with such variation in D. melanogaster. However, the genetic factors that orchestrate morphological variation have been barely studied. Here, our main objective was to investigate genetic variation for different morphological traits associated to the second chromosome in natural populations of D. melanogaster along latitudinal and altitudinal gradients in Argentina. Our results revealed weak clinal signals and a strong population effect on morphological variation. Moreover, most pairwise comparisons between populations were significant. Our study also showed important within-population genetic variation, which must be associated to the second chromosome, as the lines are otherwise genetically identical. Next, we examined the contribution of different candidate genes to natural variation for these traits. We performed quantitative complementation tests using a battery of lines bearing mutated alleles at candidate genes located in the second chromosome and six second chromosome substitution lines derived from natural populations which exhibited divergent phenotypes. Results of complementation tests revealed that natural variation at all candidate genes studied, invected, Fasciclin 3, toucan, Reticulon-like1, jing and CG14478, affects the studied characters, suggesting that they are Quantitative Trait Genes for morphological traits. Finally, the phenotypic patterns observed suggest that different alleles of each gene might contribute to natural variation for morphological traits. However, non-additive effects cannot be ruled out, as wild-derived strains differ at myriads of second chromosome loci that may interact epistatically with mutant alleles. PMID:27459710

  11. Quantitative assessment of the facial features of a Mexican population dataset.

    PubMed

    Farrera, Arodi; García-Velasco, Maria; Villanueva, Maria

    2016-05-01

    The present study describes the morphological variation of a large database of facial photographs. The database comprises frontal (386 female, 764 males) and lateral (312 females, 666 males) images of Mexican individuals aged 14-69 years that were obtained under controlled conditions. We used geometric morphometric methods and multivariate statistics to describe the phenotypic variation within the dataset as well as the variation regarding sex and age groups. In addition, we explored the correlation between facial traits in both views. We found a spectrum of variation that encompasses broad and narrow faces. In frontal view, the latter is associated to a longer nose, a thinner upper lip, a shorter lower face and to a longer upper face, than individuals with broader faces. In lateral view, antero-posteriorly shortened faces are associated to a longer profile and to a shortened helix, than individuals with longer faces. Sexual dimorphism is found in all age groups except for individuals above 39 years old in lateral view. Likewise, age-related changes are significant for both sexes, except for females above 29 years old in both views. Finally, we observed that the pattern of covariation between views differs in males and females mainly in the thickness of the upper lip and the angle of the facial profile and the auricle. The results of this study could contribute to the forensic practices as a complement for the construction of biological profiles, for example, to improve facial reconstruction procedures. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  12. Seasonal and Interannual Variation of Currents and Water Properties off the Mid-East Coast of Korea

    NASA Astrophysics Data System (ADS)

    Park, J. H.; Chang, K. I.; Nam, S.

    2016-02-01

    Since 1999, physical parameters such as current, temperature, and salinity off the mid-east coast of Korea have been continuously observed from the long-term buoy station called `East-Sea Real-time Ocean monitoring Buoy (ESROB)'. Applying harmonic analysis to 6-year-long (2007-2012) depth-averaged current data from the ESROB, a mean seasonal cycle of alongshore currents, characterized by poleward current in average and equatorward current in summer, is extracted which accounts for 5.8% of the variance of 40 hours low-pass filtered currents. In spite of the small variance explained, a robust seasonality of summertime equatorward reversal typifies the low-passed alongshore currents along with low-density water. To reveal the dynamics underlying the seasonal variation, each term of linearized, depth-averaged momentum equations is estimated using the data from ESROB, adjacent tide gauge stations, and serial hydrographic stations. The result indicates that the reversal of alongshore pressure gradient is a major driver of the equatorward reversals in summer. The reanalysis wind product (MERRA) and satellite altimeter-derived sea surface height (AVISO) data show correlated features between positive (negative) wind stress curl and sea surface depression (uplift). Quantitative estimates reveal that the wind-stress curl accounts for 42% of alongshore sea level variation. Summertime low-density water originating from the northern coastal region is a footprint of the buoyancy-driven equatorward current. An interannual variation (anomalies from the mean seasonal cycle) of alongshore currents and its possible driving mechanisms will be discussed.

  13. Genome-Wide Delineation of Natural Variation for Pod Shatter Resistance in Brassica napus

    PubMed Central

    Raman, Harsh; Raman, Rosy; Kilian, Andrzej; Detering, Frank; Carling, Jason; Coombes, Neil; Diffey, Simon; Kadkol, Gururaj; Edwards, David; McCully, Margaret; Ruperao, Pradeep; Parkin, Isobel A. P.; Batley, Jacqueline; Luckett, David J.; Wratten, Neil

    2014-01-01

    Resistance to pod shattering (shatter resistance) is a target trait for global rapeseed (canola, Brassica napus L.), improvement programs to minimise grain loss in the mature standing crop, and during windrowing and mechanical harvest. We describe the genetic basis of natural variation for shatter resistance in B. napus and show that several quantitative trait loci (QTL) control this trait. To identify loci underlying shatter resistance, we used a novel genotyping-by-sequencing approach DArT-Seq. QTL analysis detected a total of 12 significant QTL on chromosomes A03, A07, A09, C03, C04, C06, and C08; which jointly account for approximately 57% of the genotypic variation in shatter resistance. Through Genome-Wide Association Studies, we show that a large number of loci, including those that are involved in shattering in Arabidopsis, account for variation in shatter resistance in diverse B. napus germplasm. Our results indicate that genetic diversity for shatter resistance genes in B. napus is limited; many of the genes that might control this trait were not included during the natural creation of this species, or were not retained during the domestication and selection process. We speculate that valuable diversity for this trait was lost during the natural creation of B. napus. To improve shatter resistance, breeders will need to target the introduction of useful alleles especially from genotypes of other related species of Brassica, such as those that we have identified. PMID:25006804

  14. Moving object detection via low-rank total variation regularization

    NASA Astrophysics Data System (ADS)

    Wang, Pengcheng; Chen, Qian; Shao, Na

    2016-09-01

    Moving object detection is a challenging task in video surveillance. Recently proposed Robust Principal Component Analysis (RPCA) can recover the outlier patterns from the low-rank data under some mild conditions. However, the l-penalty in RPCA doesn't work well in moving object detection because the irrepresentable condition is often not satisfied. In this paper, a method based on total variation (TV) regularization scheme is proposed. In our model, image sequences captured with a static camera are highly related, which can be described using a low-rank matrix. Meanwhile, the low-rank matrix can absorb background motion, e.g. periodic and random perturbation. The foreground objects in the sequence are usually sparsely distributed and drifting continuously, and can be treated as group outliers from the highly-related background scenes. Instead of l-penalty, we exploit the total variation of the foreground. By minimizing the total variation energy, the outliers tend to collapse and finally converge to be the exact moving objects. The TV-penalty is superior to the l-penalty especially when the outlier is in the majority for some pixels, and our method can estimate the outlier explicitly with less bias but higher variance. To solve the problem, a joint optimization function is formulated and can be effectively solved through the inexact Augmented Lagrange Multiplier (ALM) method. We evaluate our method along with several state-of-the-art approaches in MATLAB. Both qualitative and quantitative results demonstrate that our proposed method works effectively on a large range of complex scenarios.

  15. Mechanisms underlying recent decadal changes in subpolar North Atlantic Ocean heat content

    NASA Astrophysics Data System (ADS)

    Piecuch, Christopher G.; Ponte, Rui M.; Little, Christopher M.; Buckley, Martha W.; Fukumori, Ichiro

    2017-09-01

    The subpolar North Atlantic (SPNA) is subject to strong decadal variability, with implications for surface climate and its predictability. In 2004-2005, SPNA decadal upper ocean and sea-surface temperature trends reversed from warming during 1994-2004 to cooling over 2005-2015. This recent decadal trend reversal in SPNA ocean heat content (OHC) is studied using a physically consistent, observationally constrained global ocean state estimate covering 1992-2015. The estimate's physical consistency facilitates quantitative causal attribution of ocean variations. Closed heat budget diagnostics reveal that the SPNA OHC trend reversal is the result of heat advection by midlatitude ocean circulation. Kinematic decompositions reveal that changes in the deep and intermediate vertical overturning circulation cannot account for the trend reversal, but rather ocean heat transports by horizontal gyre circulations render the primary contributions. The shift in horizontal gyre advection reflects anomalous circulation acting on the mean temperature gradients. Maximum covariance analysis (MCA) reveals strong covariation between the anomalous horizontal gyre circulation and variations in the local wind stress curl, suggestive of a Sverdrup response. Results have implications for decadal predictability.

  16. Global solar wind variations over the last four centuries

    PubMed Central

    Owens, M. J.; Lockwood, M.; Riley, P.

    2017-01-01

    The most recent “grand minimum” of solar activity, the Maunder minimum (MM, 1650–1710), is of great interest both for understanding the solar dynamo and providing insight into possible future heliospheric conditions. Here, we use nearly 30 years of output from a data-constrained magnetohydrodynamic model of the solar corona to calibrate heliospheric reconstructions based solely on sunspot observations. Using these empirical relations, we produce the first quantitative estimate of global solar wind variations over the last 400 years. Relative to the modern era, the MM shows a factor 2 reduction in near-Earth heliospheric magnetic field strength and solar wind speed, and up to a factor 4 increase in solar wind Mach number. Thus solar wind energy input into the Earth’s magnetosphere was reduced, resulting in a more Jupiter-like system, in agreement with the dearth of auroral reports from the time. The global heliosphere was both smaller and more symmetric under MM conditions, which has implications for the interpretation of cosmogenic radionuclide data and resulting total solar irradiance estimates during grand minima. PMID:28139769

  17. A novel scatter-matrix eigenvalues-based total variation (SMETV) regularization for medical image restoration

    NASA Astrophysics Data System (ADS)

    Huang, Zhenghua; Zhang, Tianxu; Deng, Lihua; Fang, Hao; Li, Qian

    2015-12-01

    Total variation(TV) based on regularization has been proven as a popular and effective model for image restoration, because of its ability of edge preserved. However, as the TV favors a piece-wise constant solution, the processing results in the flat regions of the image are easily produced "staircase effects", and the amplitude of the edges will be underestimated; the underlying cause of the problem is that the regularization parameter can not be changeable with spatial local information of image. In this paper, we propose a novel Scatter-matrix eigenvalues-based TV(SMETV) regularization with image blind restoration algorithm for deblurring medical images. The spatial information in different image regions is incorporated into regularization by using the edge indicator called difference eigenvalue to distinguish edges from flat areas. The proposed algorithm can effectively reduce the noise in flat regions as well as preserve the edge and detailed information. Moreover, it becomes more robust with the change of the regularization parameter. Extensive experiments demonstrate that the proposed approach produces results superior to most methods in both visual image quality and quantitative measures.

  18. Multigenic Natural Variation Underlies Caenorhabditis elegans Olfactory Preference for the Bacterial Pathogen Serratia marcescens

    PubMed Central

    Glater, Elizabeth E.; Rockman, Matthew V.; Bargmann, Cornelia I.

    2013-01-01

    The nematode Caenorhabditis elegans can use olfaction to discriminate among different kinds of bacteria, its major food source. We asked how natural genetic variation contributes to choice behavior, focusing on differences in olfactory preference behavior between two wild-type C. elegans strains. The laboratory strain N2 strongly prefers the odor of Serratia marcescens, a soil bacterium that is pathogenic to C. elegans, to the odor of Escherichia coli, a commonly used laboratory food source. The divergent Hawaiian strain CB4856 has a weaker attraction to Serratia than the N2 strain, and this behavioral difference has a complex genetic basis. At least three quantitative trait loci (QTLs) from the CB4856 Hawaii strain (HW) with large effect sizes lead to reduced Serratia preference when introgressed into an N2 genetic background. These loci interact and have epistatic interactions with at least two antagonistic QTLs from HW that increase Serratia preference. The complex genetic architecture of this C. elegans trait is reminiscent of the architecture of mammalian metabolic and behavioral traits. PMID:24347628

  19. Phenotypic variation and identification of quantitative trait loci for ozone injury in a Fiskeby III x Mandarin (Ottawa) soybean population

    USDA-ARS?s Scientific Manuscript database

    Ground-level ozone reduces yield in crops such as soybean (Glycine max (L.) Merr.). Phenotypic variation has been observed for this trait in multiple species; however, breeding for ozone tolerance has been limited. A recombinant inbred population was developed from soybean genotypes differing in tol...

  20. Changes in intrapopulation resource use patterns of an endangered raptor in response to a disease-mediated crash in prey abundance.

    PubMed

    Moleón, Marcos; Sebastián-González, Esther; Sánchez-Zapata, José A; Real, Joan; Pires, Mathias M; Gil-Sánchez, José M; Bautista, Jesús; Palma, Luís; Bayle, Patrick; Guimarães, Paulo R; Beja, Pedro

    2012-11-01

    1. A long-standing question in ecology is how natural populations respond to a changing environment. Emergent optimal foraging theory-based models for individual variation go beyond the population level and predict how its individuals would respond to disturbances that produce changes in resource availability. 2. Evaluating variations in resource use patterns at the intrapopulation level in wild populations under changing environmental conditions would allow to further advance in the research on foraging ecology and evolution by gaining a better idea of the underlying mechanisms explaining trophic diversity. 3. In this study, we use a large spatio-temporal scale data set (western continental Europe, 1968-2006) on the diet of Bonelli's Eagle Aquila fasciata breeding pairs to analyse the predator trophic responses at the intrapopulation level to a prey population crash. In particular, we borrow metrics from studies on network structure and intrapopulation variation to understand how an emerging infectious disease [the rabbit haemorrhagic disease (RHD)] that caused the density of the eagle's primary prey (rabbit Oryctolagus cuniculus) to dramatically drop across Europe impacted on resource use patterns of this endangered raptor. 4. Following the major RHD outbreak, substantial changes in Bonelli's Eagle's diet diversity and organisation patterns at the intrapopulation level took place. Dietary variation among breeding pairs was larger after than before the outbreak. Before RHD, there were no clusters of pairs with similar diets, but significant clustering emerged after RHD. Moreover, diets at the pair level presented a nested pattern before RHD, but not after. 5. Here, we reveal how intrapopulation patterns of resource use can quantitatively and qualitatively vary, given drastic changes in resource availability. 6. For the first time, we show that a pathogen of a prey species can indirectly impact the intrapopulation patterns of resource use of an endangered predator. © 2012 The Authors. Journal of Animal Ecology © 2012 British Ecological Society.

  1. Morphological Variation and Inter-Relationships of Quantitative Traits in Enset (Ensete ventricosum (welw.) Cheesman) Germplasm from South and South-Western Ethiopia

    PubMed Central

    Yemataw, Zerihun; Chala, Alemayehu; Grant, Murray R.

    2017-01-01

    Enset (Ensete ventricosum (Welw.) Cheesman) is Ethiopia’s most important root crop. A total of 387 accessions collected from nine different regions of Ethiopia were evaluated for 15 quantitative traits at Areka Agricultural Research Centre to determine the extent and pattern of distribution of morphological variation. The variations among the accessions and regions were significant (p ≤ 0.01) for all the 15 traits studied. Mean for plant height, central shoot weight before grating, and fermented squeezed kocho yield per hectare per year showed regional variation along an altitude gradient and across cultural differences related to the origin of the collection. Furthermore, there were significant correlations among most of the characters. This included the correlation among agronomic characteristics of primary interest in enset breeding such as plant height, pseudostem height, and fermented squeezed kocho yield per hectare per year. Altitude of the collection sites also significantly impacted the various characteristics studied. These results reveal the existence of significant phenotypic variations among the 387 accessions as a whole. Regional differentiations were also evident among the accessions. The implication of the current results for plant breeding, germplasm collection, and in situ and ex situ genetic resource conservation are discussed. PMID:29210979

  2. A new index for the quantification of chromosome number variation: an application to selected animal and plant groups.

    PubMed

    Peruzzi, Lorenzo; Caparelli, Katia Francesca; Bedini, Gianni

    2014-07-21

    Quantitative parameters have been used to characterize chromosome number (CN) variation. This gave us the idea to collect available data in various organisms and compare them, in order to verify if variation patterns differ between animal and plant groups and to quantify these patterns with an Index of CN Heterogeneity (ICNH), useful as a parameter to compare related taxonomical/geographical groups of organisms. To the best of our knowledge, this is the first attempt to compare CN variation in animal and plant groups with large datasets. The quantitative analysis allowed detecting significant differences among most groups of animals and plants. The most striking difference, however, is the close relationship between mean CN and SD restricted to plants, in which higher CN are also associated with a larger variation degree, possibly due to the well known genomic plasticity in this group and a propensity for polyploidization higher than in animals. The ICNH defined here can be easily calculated for both animal and plant groups based on commonly available data. It summarizes data accumulated in over a century of research and includes so-called anomalies like fB and fOCN, sometimes overlooked by researchers due to lack of a proper way of comparison. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. An eQTL Analysis of Partial Resistance to Puccinia hordei in Barley

    PubMed Central

    Chen, Xinwei; Hackett, Christine A.; Niks, Rients E.; Hedley, Peter E.; Booth, Clare; Druka, Arnis; Marcel, Thierry C.; Vels, Anton; Bayer, Micha; Milne, Iain; Morris, Jenny; Ramsay, Luke; Marshall, David; Cardle, Linda; Waugh, Robbie

    2010-01-01

    Background Genetic resistance to barley leaf rust caused by Puccinia hordei involves both R genes and quantitative trait loci. The R genes provide higher but less durable resistance than the quantitative trait loci. Consequently, exploring quantitative or partial resistance has become a favorable alternative for controlling disease. Four quantitative trait loci for partial resistance to leaf rust have been identified in the doubled haploid Steptoe (St)/Morex (Mx) mapping population. Further investigations are required to study the molecular mechanisms underpinning partial resistance and ultimately identify the causal genes. Methodology/Principal Findings We explored partial resistance to barley leaf rust using a genetical genomics approach. We recorded RNA transcript abundance corresponding to each probe on a 15K Agilent custom barley microarray in seedlings from St and Mx and 144 doubled haploid lines of the St/Mx population. A total of 1154 and 1037 genes were, respectively, identified as being P. hordei-responsive among the St and Mx and differentially expressed between P. hordei-infected St and Mx. Normalized ratios from 72 distant-pair hybridisations were used to map the genetic determinants of variation in transcript abundance by expression quantitative trait locus (eQTL) mapping generating 15685 eQTL from 9557 genes. Correlation analysis identified 128 genes that were correlated with resistance, of which 89 had eQTL co-locating with the phenotypic quantitative trait loci (pQTL). Transcript abundance in the parents and conservation of synteny with rice allowed us to prioritise six genes as candidates for Rphq11, the pQTL of largest effect, and highlight one, a phospholipid hydroperoxide glutathione peroxidase (HvPHGPx) for detailed analysis. Conclusions/Significance The eQTL approach yielded information that led to the identification of strong candidate genes underlying pQTL for resistance to leaf rust in barley and on the general pathogen response pathway. The dataset will facilitate a systems appraisal of this host-pathogen interaction and, potentially, for other traits measured in this population. PMID:20066049

  4. In Vitro Comparison of Adipokine Export Signals.

    PubMed

    Sharafi, Parisa; Kocaefe, Y Çetin

    2016-01-01

    Mammalian cells are widely used for recombinant protein production in research and biotechnology. Utilization of export signals significantly facilitates production and purification processes. 35 years after the discovery of the mammalian export machinery, there still are obscurities regarding the efficiency of the export signals. The aim of this study was the comparative evaluation of the efficiency of selected export signals using adipocytes as a cell model. Adipocytes have a large capacity for protein secretion including several enzymes, adipokines, and other signaling molecules, providing a valid system for a quantitative evaluation. Constructs that expressed N-terminal fusion export signals were generated to express Enhanced Green Fluorescence Protein (EGFP) as a reporter for quantitative and qualitative evaluation. Furthermore, fluorescent microscopy was used to trace the intracellular traffic of the reporter. The export efficiency of six selected proteins secreted from adipocytes was evaluated. Quantitative comparison of intracellular and exported fractions of the recombinant constructs demonstrated a similar efficiency among the studied sequences with minor variations. The export signal of Retinol Binding Protein (RBP4) exhibited the highest efficiency. This study presents the first quantitative data showing variations among export signals, in adipocytes which will help optimization of recombinant protein distribution.

  5. Impact of different bioenergy crops on N-cycling bacterial and archaeal communities in soil.

    PubMed

    Mao, Yuejian; Yannarell, Anthony C; Davis, Sarah C; Mackie, Roderick I

    2013-03-01

    Biomass production for bioenergy may change soil microbes and influence ecosystem properties. To explore the impact of different bioenergy cropping systems on soil microorganisms, the compositions and quantities of soil microbial communities (16S rRNA gene) and N-cycling functional groups (nifH, bacterial amoA, archaeal amoA and nosZ genes) were assessed under maize, switchgrass and Miscanthus x giganteus at seven sites representing a climate gradient (precipitation and temperature) in Illinois, USA. Overall, the site-to-site variation in community composition surpassed the variation due to plant type, and microbial communities under each crop did not converge on a 'typical' species assemblage. Fewer than 5% of archaeal amoA, bacterial amoA, nifH and nosZ OTUs were significantly different among these crops, but the largest differences observed at each site were found between maize and the two perennial grasses. Quantitative PCR revealed that the abundance of the nifH gene was significantly higher in the perennial grasses than in maize, and we also found significantly higher total N in the perennial grass soils than in maize. Thus, we conclude that cultivation of these perennial grasses, instead of maize, as bioenergy feedstocks can improve soil ecosystem nitrogen sustainability by increasing the population size of N-fixing bacteria. © 2012 Society for Applied Microbiology and Blackwell Publishing Ltd.

  6. Multivariate Analysis of the Cotton Seed Ionome Reveals a Shared Genetic Architecture

    PubMed Central

    Pauli, Duke; Ziegler, Greg; Ren, Min; Jenks, Matthew A.; Hunsaker, Douglas J.; Zhang, Min; Baxter, Ivan; Gore, Michael A.

    2018-01-01

    To mitigate the effects of heat and drought stress, a better understanding of the genetic control of physiological responses to these environmental conditions is needed. To this end, we evaluated an upland cotton (Gossypium hirsutum L.) mapping population under water-limited and well-watered conditions in a hot, arid environment. The elemental concentrations (ionome) of seed samples from the population were profiled in addition to those of soil samples taken from throughout the field site to better model environmental variation. The elements profiled in seeds exhibited moderate to high heritabilities, as well as strong phenotypic and genotypic correlations between elements that were not altered by the imposed irrigation regimes. Quantitative trait loci (QTL) mapping results from a Bayesian classification method identified multiple genomic regions where QTL for individual elements colocalized, suggesting that genetic control of the ionome is highly interrelated. To more fully explore this genetic architecture, multivariate QTL mapping was implemented among groups of biochemically related elements. This analysis revealed both additional and pleiotropic QTL responsible for coordinated control of phenotypic variation for elemental accumulation. Machine learning algorithms that utilized only ionomic data predicted the irrigation regime under which genotypes were evaluated with very high accuracy. Taken together, these results demonstrate the extent to which the seed ionome is genetically interrelated and predictive of plant physiological responses to adverse environmental conditions. PMID:29437829

  7. Population Variation Reveals Independent Selection toward Small Body Size in Chinese Debao Pony

    PubMed Central

    Kader, Adiljan; Li, Yan; Dong, Kunzhe; Irwin, David M.; Zhao, Qianjun; He, Xiaohong; Liu, Jianfeng; Pu, Yabin; Gorkhali, Neena Amatya; Liu, Xuexue; Jiang, Lin; Li, Xiangchen; Guan, Weijun; Zhang, Yaping; Wu, Dong-Dong; Ma, Yuehui

    2016-01-01

    Body size, one of the most important quantitative traits under evolutionary scrutiny, varies considerably among species and among populations within species. Revealing the genetic basis underlying this variation is very important, particularly in humans where there is a close relationship with diseases and in domestic animals as the selective patterns are associated with improvements in production traits. The Debao pony is a horse breed with small body size that is unique to China; however, it is unknown whether the size-related candidate genes identified in Western breeds also account for the small body size of the Debao pony. Here, we compared individual horses from the Debao population with other two Chinese horse populations using single nucleotide polymorphisms (SNPs) identified with the Equine SNP 65 Bead Chip. The previously reported size-related candidate gene HMGA2 showed a significant signature for selection, consistent with its role observed in human populations. More interestingly, we found a candidate gene TBX3, which had not been observed in previous studies on horse body size that displayed the highest differentiation and most significant association, and thus likely is the dominating factor for the small stature of the Debao pony. Further comparison between the Debao pony and other breeds of horses from around the world demonstrated that TBX3 was selected independently in the Debao pony, suggesting that there were multiple origins of small stature in the horse. PMID:26637467

  8. Quantitative genetics of secondary hip joint osteoarthritis in a Labrador Retriever-Greyhound pedigree.

    PubMed

    Hays, Laurel; Zhang, Zhiwu; Mateescu, Raluca G; Lust, George; Burton-Wurster, Nancy I; Todhunter, Rory J

    2007-01-01

    To evaluate the quantitative inheritance of secondary hip joint osteoarthritis in a canine pedigree. 137 Labrador Retrievers, Greyhounds, and mixed-breed dogs. Necropsy scores ranging from 0 to 4 were obtained for each hip joint. Seven unaffected Greyhounds with normal hip joint conformation were also used for genetic modeling, but were not euthanized. Sixty-six male and 71 female dogs were allocated to 2 groups (< or = 12 months of age and > 12 months of age). Statistical models were developed to establish the inheritance pattern of hip joint osteoarthritis that developed secondary to hip dysplasia. 62 dogs had evidence of osteoarthritis in a hip joint, and 75 had no evidence of osteoarthritis. After sex was adjusted for, the necropsy score was found to be inherited additively but without dominance. Each Labrador Retriever allele increased the necropsy score by 0.7 to 0.9 points, compared with the Greyhound allele, and male sex increased the necropsy score 0.74 over female sex. Approximately 10% of the variation in necropsy score was attributable to the litter of puppies' origin. Because secondary hip joint osteoarthritis is inherited additively, selection pressure could be applied to reduce its incidence. Similar statistical models can be used in linkage and association mapping to detect the genes in the underlying quantitative trait loci that contribute to hip joint osteoarthritis.

  9. Correlations of Genotype with Climate Parameters Suggest Caenorhabditis elegans Niche Adaptations

    PubMed Central

    Evans, Kathryn S.; Zhao, Yuehui; Brady, Shannon C.; Long, Lijiang; McGrath, Patrick T.; Andersen, Erik C.

    2016-01-01

    Species inhabit a variety of environmental niches, and the adaptation to a particular niche is often controlled by genetic factors, including gene-by-environment interactions. The genes that vary in order to regulate the ability to colonize a niche are often difficult to identify, especially in the context of complex ecological systems and in experimentally uncontrolled natural environments. Quantitative genetic approaches provide an opportunity to investigate correlations between genetic factors and environmental parameters that might define a niche. Previously, we have shown how a collection of 208 whole-genome sequenced wild Caenorhabditis elegans can facilitate association mapping approaches. To correlate climate parameters with the variation found in this collection of wild strains, we used geographic data to exhaustively curate daily weather measurements in short-term (3 month), middle-term (one year), and long-term (three year) durations surrounding the date of strain isolation. These climate parameters were used as quantitative traits in association mapping approaches, where we identified 11 quantitative trait loci (QTL) for three climatic variables: elevation, relative humidity, and average temperature. We then narrowed the genomic interval of interest to identify gene candidates with variants potentially underlying phenotypic differences. Additionally, we performed two-strain competition assays at high and low temperatures to validate a QTL that could underlie adaptation to temperature and found suggestive evidence supporting that hypothesis. PMID:27866149

  10. Morphometric Analysis of Chemoreception Organ in Male and Female Ticks (Acari: Ixodidae).

    PubMed

    Josek, Tanya; Allan, Brian F; Alleyne, Marianne

    2018-05-04

    The Haller's organ plays a crucial role in a tick's ability to detect hosts. Even though this sensory organ is vital to tick survival, the morphology of this organ is not well understood. The objective of this study was to characterize variation in the morphological components of the Haller's organ of three medically important tick species using quantitative methods. The Haller's organs of Ixodes scapularis Say (Ixodida: Ixodidae) (black-legged tick), Amblyomma americanum (L.) (Ixodida: Ixodidae) (lone star tick), and Dermacentor variabilis (Say) (Ixodida: Ixodidae) (American dog tick) were morphologically analyzed using environmental scanning electron microscopy and geometric morphometrics, and the results were statistically interpreted using canonical variate analysis. Our data reveal significant, quantitative differences in the morphology of the Haller's organ among all three tick species and that in D. variabilis the sensory structure is sexually dimorphic. Studies like this can serve as a quantitative basis for further studies on sensor physiology, behavior, and tick species life history, potentially leading to novel methods for the prevention of tick-borne disease.

  11. Backscatter and attenuation characterization of ventricular myocardium

    NASA Astrophysics Data System (ADS)

    Gibson, Allyson Ann

    2009-12-01

    This Dissertation presents quantitative ultrasonic measurements of the myocardium in fetal hearts and adult human hearts with the goal of studying the physics of sound waves incident upon anisotropic and inhomogeneous materials. Ultrasound has been used as a clinical tool to assess heart structure and function for several decades. The clinical usefulness of this noninvasive approach has grown with our understanding of the physical mechanisms underlying the interaction of ultrasonic waves with the myocardium. In this Dissertation, integrated backscatter and attenuation analyses were performed on midgestational fetal hearts to assess potential differences in the left and right ventricular myocardium. The hearts were interrogated using a 50 MHz transducer that enabled finer spatial resolution than could be achieved at more typical clinical frequencies. Ultrasonic data analyses demonstrated different patterns and relative levels of backscatter and attenuation from the myocardium of the left ventricle and the right ventricle. Ultrasonic data of adult human hearts were acquired with a clinical imaging system and quantified by their magnitude and time delay of cyclic variation of myocardial backscatter. The results were analyzing using Bayes Classification and ROC analysis to quantify potential advantages of using a combination of two features of cyclic variation of myocardial backscatter over using only one or the other feature to distinguish between groups of subjects. When the subjects were classified based on hemoglobin A1c, the homeostasis model assessment of insulin resistance, and the ratio of triglyceride to high-density lipoprotein-cholesterol, differences in the magnitude and normalized time delay of cyclic variation of myocardial backscatter were observed. The cyclic variation results also suggested a trend toward a larger area under the ROC curve when information from magnitude and time delay of cyclic variation is combined using Bayes classification than when each feature is analyzed individually. Ultrasound continues to be a powerful tool that enables noninvasive quantification of material properties. The studies in this Dissertation show that understanding the physical mechanisms behind the interaction of sound waves with myocardium can reveal new information about the structure, composition and overall state of the heart.

  12. On the mechanical properties of tooth enamel under spherical indentation.

    PubMed

    Chai, Herzl

    2014-11-01

    The mechanical properties of tooth enamel generally exhibit large variations, which reflect its structural and material complexity. Some key properties were evaluated under localized contact, simulating actual functioning conditions. Prominent cusps of extracted human molar teeth were polished down ~0.7 mm below the cusp tip and indented by tungsten carbide balls. The internal damage was assessed after unloading from longitudinal or transverse sections. The ultimate tensile stress (UTS) was determined using a novel bilayer specimen. The damage is characterized by penny-like radial cracks driven by hoop stresses and cylindrical cracks driven along protein-rich interrod materials by shear stresses. Shallow cone cracks typical of homogeneous materials which may cause rapid tooth wear under repeat contact are thus avoided. The mean stress vs. indentation strain curve is highly nonlinear, attributable to plastic shearing of protein between and within enamel rods. This curve is also affected by damage, especially radial cracks, the onset of which depends on ball radius. Several material properties were extracted from the tests, including shear strain at the onset of ring cracks γ(F) (=0.14), UTS (=119 MPa), toughness K(C) (=0.94 MPa m(1/2)), a crack propagation law and a constitutive response determined by trial and error with the aid of a finite-element analysis. These quantities, which are only slightly sensitive to anatomical location within the enamel region tested, facilitate a quantitative assessment of crown failure. Causes for variations in published UTS and K(C) values are discussed. Copyright © 2014 Acta Materialia Inc. Published by Elsevier Ltd. All rights reserved.

  13. Determining Phenological Patterns Associated with the Onset of Senescence in a Wheat MAGIC Mapping Population.

    PubMed

    Camargo, Anyela V; Mott, Richard; Gardner, Keith A; Mackay, Ian J; Corke, Fiona; Doonan, John H; Kim, Jan T; Bentley, Alison R

    2016-01-01

    The appropriate timing of developmental transitions is critical for adapting many crops to their local climatic conditions. Therefore, understanding the genetic basis of different aspects of phenology could be useful in highlighting mechanisms underpinning adaptation, with implications in breeding for climate change. For bread wheat ( Triticum aestivum ), the transition from vegetative to reproductive growth, the start and rate of leaf senescence and the relative timing of different stages of flowering and grain filling all contribute to plant performance. In this study we screened under Smart house conditions a large, multi-founder "NIAB elite MAGIC" wheat population, to evaluate the genetic elements that influence the timing of developmental stages in European elite varieties. This panel of recombinant inbred lines was derived from eight parents that are or recently have been grown commercially in the UK and Northern Europe. We undertook a detailed temporal phenotypic analysis under Smart house conditions of the population and its parents, to try to identify known or novel Quantitative Trait Loci associated with variation in the timing of key phenological stages in senescence. This analysis resulted in the detection of QTL interactions with novel traits such the time between "half of ear emergence above flag leaf ligule" and the onset of senescence at the flag leaf as well as traits associated with plant morphology such as stem height. In addition, strong correlations between several traits and the onset of senescence of the flag leaf were identified. This work establishes the value of systematically phenotyping genetically unstructured populations to reveal the genetic architecture underlying morphological variation in commercial wheat.

  14. Replication and discovery of musculoskeletal QTLs in LG/J and SM/J advanced intercross lines.

    PubMed

    Hernandez Cordero, Ana I; Carbonetto, Peter; Riboni Verri, Gioia; Gregory, Jennifer S; Vandenbergh, David J; P Gyekis, Joseph; Blizard, David A; Lionikas, Arimantas

    2018-02-01

    The genetics underlying variation in health-related musculoskeletal phenotypes can be investigated in a mouse model. Quantitative trait loci (QTLs) affecting musculoskeletal traits in the LG/J and SM/J strain lineage remain to be refined and corroborated. The aim of this study was to map muscle and bone traits in males (n = 506) of the 50th filial generation of advanced intercross lines (LG/SM AIL) derived from the two strains. Genetic contribution to variation in all musculoskeletal traits was confirmed; the SNP heritability of muscle mass ranged between 0.46 and 0.56; and the SNP heritability of tibia length was 0.40. We used two analytical software, GEMMA and QTLRel, to map the underlying QTLs. GEMMA required substantially less computation and recovered all the QTLs identified by QTLRel. Seven significant QTLs were identified for muscle weight (Chr 1, 7, 11, 12, 13, 15, and 16), and two for tibia length, (Chr 1 and 13). Each QTL explained 4-5% of phenotypic variation. One muscle and both bone loci replicated previous findings; the remaining six were novel. Positional candidates for the replicated QTLs were prioritized based on in silico analyses and gene expression in muscle tissue. In summary, we replicated existing QTLs and identified novel QTLs affecting muscle weight, and replicated bone length QTLs in LG/SM AIL males. Heritability estimates substantially exceed the cumulative effect of the QTLs, hence a richer genetic architecture contributing to muscle and bone variability could be uncovered with a larger sample size. © 2018 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of The Physiological Society and the American Physiological Society.

  15. Concerted evolution of life stage performances signals recent selection on yeast nitrogen use.

    PubMed

    Ibstedt, Sebastian; Stenberg, Simon; Bagés, Sara; Gjuvsland, Arne B; Salinas, Francisco; Kourtchenko, Olga; Samy, Jeevan K A; Blomberg, Anders; Omholt, Stig W; Liti, Gianni; Beltran, Gemma; Warringer, Jonas

    2015-01-01

    Exposing natural selection driving phenotypic and genotypic adaptive differentiation is an extraordinary challenge. Given that an organism's life stages are exposed to the same environmental variations, we reasoned that fitness components, such as the lag, rate, and efficiency of growth, directly reflecting performance in these life stages, should often be selected in concert. We therefore conjectured that correlations between fitness components over natural isolates, in a particular environmental context, would constitute a robust signal of recent selection. Critically, this test for selection requires fitness components to be determined by different genetic loci. To explore our conjecture, we exhaustively evaluated the lag, rate, and efficiency of asexual population growth of natural isolates of the model yeast Saccharomyces cerevisiae in a large variety of nitrogen-limited environments. Overall, fitness components were well correlated under nitrogen restriction. Yeast isolates were further crossed in all pairwise combinations and coinheritance of each fitness component and genetic markers were traced. Trait variations tended to map to quantitative trait loci (QTL) that were private to a single fitness component. We further traced QTLs down to single-nucleotide resolution and uncovered loss-of-function mutations in RIM15, PUT4, DAL1, and DAL4 as the genetic basis for nitrogen source use variations. Effects of SNPs were unique for a single fitness component, strongly arguing against pleiotropy between lag, rate, and efficiency of reproduction under nitrogen restriction. The strong correlations between life stage performances that cannot be explained by pleiotropy compellingly support adaptive differentiation of yeast nitrogen source use and suggest a generic approach for detecting selection. © The Author 2014. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  16. Headspace gas chromatographic method for the measurement of difluoroethane in blood.

    PubMed

    Broussard, L A; Broussard, A; Pittman, T; Lafferty, D; Presley, L

    2001-01-01

    To develop a gas chromatographic assay for the analysis of difluoroethane, a volatile substance, in blood and to determine assay characteristics including linearity, limit of quantitation, precision, and specificity. Referral toxicology laboratory Difluoroethane, a colorless, odorless, highly flammable gas used as a refrigerant blend component and aerosol propellant, may be abused via inhalation. A headspace gas chromatographic procedure for the identification and quantitation of difluoroethane in blood is presented. A methanolic stock standard prepared from pure gaseous difluoroethane was used to prepare whole blood calibrators. Quantitation of difluoroethane was performed using a six-point calibration curve and an internal standard of 1-propanol. The assay is linear from 0 to 115 mg/L including a low calibrator at 4 mg/L, the limit of quantitation. Within-run coefficients of variation at mean concentrations of 13.8 mg/L and 38.5 mg/L were 5.8% and 6.8% respectively. Between-run coefficients of variation at mean concentrations of 15.9 mg/L and 45.7 mg/L were 13.4% and 9.8% respectively. Several volatile substances were tested as potential interfering compounds with propane having a retention time identical to that of difluoroethane. This method requires minimal sample preparation, is rapid and reproducible, can be modified for the quantitation of other volatiles, and could be automated using an automatic sampler/injector system.

  17. Allelic-based gene-gene interaction associated with quantitative traits.

    PubMed

    Jung, Jeesun; Sun, Bin; Kwon, Deukwoo; Koller, Daniel L; Foroud, Tatiana M

    2009-05-01

    Recent studies have shown that quantitative phenotypes may be influenced not only by multiple single nucleotide polymorphisms (SNPs) within a gene but also by the interaction between SNPs at unlinked genes. We propose a new statistical approach that can detect gene-gene interactions at the allelic level which contribute to the phenotypic variation in a quantitative trait. By testing for the association of allelic combinations at multiple unlinked loci with a quantitative trait, we can detect the SNP allelic interaction whether or not it can be detected as a main effect. Our proposed method assigns a score to unrelated subjects according to their allelic combination inferred from observed genotypes at two or more unlinked SNPs, and then tests for the association of the allelic score with a quantitative trait. To investigate the statistical properties of the proposed method, we performed a simulation study to estimate type I error rates and power and demonstrated that this allelic approach achieves greater power than the more commonly used genotypic approach to test for gene-gene interaction. As an example, the proposed method was applied to data obtained as part of a candidate gene study of sodium retention by the kidney. We found that this method detects an interaction between the calcium-sensing receptor gene (CaSR), the chloride channel gene (CLCNKB) and the Na, K, 2Cl cotransporter gene (CLC12A1) that contributes to variation in diastolic blood pressure.

  18. Phase calibration target for quantitative phase imaging with ptychography.

    PubMed

    Godden, T M; Muñiz-Piniella, A; Claverley, J D; Yacoot, A; Humphry, M J

    2016-04-04

    Quantitative phase imaging (QPI) utilizes refractive index and thickness variations that lead to optical phase shifts. This gives contrast to images of transparent objects. In quantitative biology, phase images are used to accurately segment cells and calculate properties such as dry mass, volume and proliferation rate. The fidelity of the measured phase shifts is of critical importance in this field. However to date, there has been no standardized method for characterizing the performance of phase imaging systems. Consequently, there is an increasing need for protocols to test the performance of phase imaging systems using well-defined phase calibration and resolution targets. In this work, we present a candidate for a standardized phase resolution target, and measurement protocol for the determination of the transfer of spatial frequencies, and sensitivity of a phase imaging system. The target has been carefully designed to contain well-defined depth variations over a broadband range of spatial frequencies. In order to demonstrate the utility of the target, we measure quantitative phase images on a ptychographic microscope, and compare the measured optical phase shifts with Atomic Force Microscopy (AFM) topography maps and surface profile measurements from coherence scanning interferometry. The results show that ptychography has fully quantitative nanometer sensitivity in optical path differences over a broadband range of spatial frequencies for feature sizes ranging from micrometers to hundreds of micrometers.

  19. Quantitatively characterizing microstructural variations of skin tissues during ultraviolet radiation damaging process based on Mueller matrix polarimetry

    NASA Astrophysics Data System (ADS)

    Sheng, Wei; He, Honghui; Dong, Yang; Ma, Hui

    2018-02-01

    As one of the most fundamental features of light, polarization can be used to develop imaging techniques which can provide insight into the optical and structural properties of tissues. Especially, the Mueller matrix polarimetry is suitable to detect the changes in collagen and elastic fibres, which are the main compositions of skin tissue. Here we demonstrate a novel quantitative, non-contact and in situ technique to monitor the microstructural variations of skin tissue during ultraviolet radiation (UVR) induced photoaging based on Mueller matrix polarimetry. Specifically, we measure the twodimensional (2D) backscattering Mueller matrices of nude mouse skin samples, then calculate and analyze the Mueller matrix derived parameters during the skin photoaging and self-repairing processes. To induce three-day skin photoaging, the back skin of each mouse is irradiated with UVR (0.05J/cm2) for five minutes per day. After UVR, the microstructures of the nude mouse skin are damaged. During the process of UV damage, we measure the backscattering Mueller matrices of the mouse skin samples and examine the relationship between the Mueller matrix parameters and the microstructural variations of skin tissue quantitatively. The comparisons between the UVR damaged groups with and without sunscreens show that the Mueller matrix derived parameters are potential indicators for fibrous microstructure variation in skin tissue. The pathological examinations and Monte Carlo simulations confirm the relationship between the values of Mueller matrix parameters and the changes of fibrous structures. Combined with smart phones or wearable devices, this technique may have a good application prospect in the fields of cosmetics and dermatological health.

  20. Seasonal variation of food security among the Batwa of Kanungu, Uganda.

    PubMed

    Patterson, Kaitlin; Berrang-Ford, Lea; Lwasa, Shuaib; Namanya, Didacus B; Ford, James; Twebaze, Fortunate; Clark, Sierra; Donnelly, Blánaid; Harper, Sherilee L

    2017-01-01

    Climate change is projected to increase the burden of food insecurity (FI) globally, particularly among populations that depend on subsistence agriculture. The impacts of climate change will have disproportionate effects on populations with higher existing vulnerability. Indigenous people consistently experience higher levels of FI than their non-Indigenous counterparts and are more likely to be dependent upon land-based resources. The present study aimed to understand the sensitivity of the food system of an Indigenous African population, the Batwa of Kanungu District, Uganda, to seasonal variation. A concurrent, mixed methods (quantitative and qualitative) design was used. Six cross-sectional retrospective surveys, conducted between January 2013 and April 2014, provided quantitative data to examine the seasonal variation of self-reported household FI. This was complemented by qualitative data from focus group discussions and semi-structured interviews collected between June and August 2014. Ten rural Indigenous communities in Kanungu District, Uganda. FI data were collected from 130 Indigenous Batwa Pygmy households. Qualitative methods involved Batwa community members, local key informants, health workers and governmental representatives. The dry season was associated with increased FI among the Batwa in the quantitative surveys and in the qualitative interviews. During the dry season, the majority of Batwa households reported greater difficulty in acquiring sufficient quantities and quality of food. However, the qualitative data indicated that the effect of seasonal variation on FI was modified by employment, wealth and community location. These findings highlight the role social factors play in mediating seasonal impacts on FI and support calls to treat climate associations with health outcomes as non-stationary and mediated by social sensitivity.

  1. Solar Effects on Global Climate Due to Cosmic Rays and Solar Energetic Particles

    NASA Technical Reports Server (NTRS)

    Turco, R. P.; Raeder, J.; DAuria, R.

    2005-01-01

    Although the work reported here does not directly connect solar variability with global climate change, this research establishes a plausible quantitative causative link between observed solar activity and apparently correlated variations in terrestrial climate parameters. Specifically, we have demonstrated that ion-mediated nucleation of atmospheric particles is a likely, and likely widespread, phenomenon that relates solar variability to changes in the microphysical properties of clouds. To investigate this relationship, we have constructed and applied a new model describing the formation and evolution of ionic clusters under a range of atmospheric conditions throughout the lower atmosphere. The activation of large ionic clusters into cloud nuclei is predicted to be favorable in the upper troposphere and mesosphere, and possibly in the lower stratosphere. The model developed under this grant needs to be extended to include additional cluster families, and should be incorporated into microphysical models to further test the cause-and-effect linkages that may ultimately explain key aspects of the connections between solar variability and climate.

  2. High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells.

    PubMed

    D'Antonio, Matteo; Woodruff, Grace; Nathanson, Jason L; D'Antonio-Chronowska, Agnieszka; Arias, Angelo; Matsui, Hiroko; Williams, Roy; Herrera, Cheryl; Reyna, Sol M; Yeo, Gene W; Goldstein, Lawrence S B; Panopoulos, Athanasia D; Frazer, Kelly A

    2017-04-11

    Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and cardiomyocytes. To date, studies have been published that use small panels of iPSC-derived cell lines to study monogenic diseases. However, to study complex diseases, where the genetic variation underlying the disorder is unknown, a sizable number of patient-specific iPSC lines and controls need to be generated. Currently the methods for deriving and characterizing iPSCs are time consuming, expensive, and, in some cases, descriptive but not quantitative. Here we set out to develop a set of simple methods that reduce cost and increase throughput in the characterization of iPSC lines. Specifically, we outline methods for high-throughput quantification of surface markers, gene expression analysis of in vitro differentiation potential, and evaluation of karyotype with markedly reduced cost. Published by Elsevier Inc.

  3. Domain and nanoridge growth kinetics in stratifying foam films

    NASA Astrophysics Data System (ADS)

    Zhang, Yiran; Sharma, Vivek

    Ultrathin films exhibit stratification due to confinement-induced structuring and layering of small molecules in simple fluids, and of supramolecular structures like micelles, lipid layers and nanoparticles in complex fluids. Stratification proceeds by the formation and growth of thinner domains at the expense of surrounding thicker film, and results in formation of nanoscopic terraces and mesas within a film. The detailed mechanisms underlying stratification are still under debate, and are resolved in this contribution by addressing long-standing experimental and theoretical challenges. Thickness variations in stratifying films are visualized and analyzed using interferometry, digital imaging and optical microscopy (IDIOM) protocols, with unprecedented high spatial (thickness <100 nm, lateral 500 nm) and temporal resolution (<1 ms). Using IDIOM protocols we developed recently, we characterize the shape and the growth dynamics of nanoridges that flank the expanding domains in micellar thin films. We show that topographical changes including nanoridge growth, and the overall stratification dynamics, can be described quantitatively by nonlinear thin film equation, amended with supramolecular oscillatory surface forces.

  4. Pentobarbital quantitation using EMIT serum barbiturate assay reagents: application to monitoring of high-dose pentobarbital therapy.

    PubMed

    Pape, B E; Cary, P L; Clay, L C; Godolphin, W

    1983-01-01

    Pentobarbital serum concentrations associated with a high-dose therapeutic regimen were determined using EMIT immunoassay reagents. Replicate analyses of serum controls resulted in a within-assay coefficient of variation of 5.0% and a between-assay coefficient of variation of 10%. Regression analysis of 44 serum samples analyzed by this technique (y) and a reference procedure (x) were y = 0.98x + 3.6 (r = 0.98; x = ultraviolet spectroscopy) and y = 1.04x + 2.4 (r = 0.96; x = high-performance liquid chromatography). Clinical evaluation of the results indicates the immunoassay is sufficiently sensitive and selective for pentobarbital to allow accurate quantitation within the therapeutic range associated with high-dose therapy.

  5. Genetic variation and gene expression across multiple tissues and developmental stages in a non-human primate

    PubMed Central

    Jasinska, Anna J.; Zelaya, Ivette; Service, Susan K.; Peterson, Christine B.; Cantor, Rita M.; Choi, Oi-Wa; DeYoung, Joseph; Eskin, Eleazar; Fairbanks, Lynn A.; Fears, Scott; Furterer, Allison E.; Huang, Yu S.; Ramensky, Vasily; Schmitt, Christopher A.; Svardal, Hannes; Jorgensen, Matthew J.; Kaplan, Jay R.; Villar, Diego; Aken, Bronwen L.; Flicek, Paul; Nag, Rishi; Wong, Emily S.; Blangero, John; Dyer, Thomas D.; Bogomolov, Marina; Benjamini, Yoav; Weinstock, George M.; Dewar, Ken; Sabatti, Chiara; Wilson, Richard K.; Jentsch, J. David; Warren, Wesley; Coppola, Giovanni; Woods, Roger P.; Freimer, Nelson B.

    2017-01-01

    By analyzing multi-tissue gene expression and genome-wide genetic variation data in samples from a vervet monkey pedigree, we generated a transcriptome resource and produced the first catalogue of expression quantitative trait loci (eQTLs) in a non-human primate model. This catalogue contains more genome-wide significant eQTLs, per sample, than comparable human resources, and reveals sex and age-related expression patterns. Findings include a master regulatory locus that likely plays a role in immune function, and a locus regulating hippocampal long non-coding RNAs (lncRNAs), whose expression correlates with hippocampal volume. This resource will facilitate genetic investigation of quantitative traits, including brain and behavioral phenotypes relevant to neuropsychiatric disorders. PMID:29083405

  6. Variations of oral microbiota are associated with pancreatic diseases including pancreatic cancer

    PubMed Central

    Farrell, James J; Zhang, Lei; Zhou, Hui; Chia, David; Elashoff, David; Akin, David; Paster, Bruce J; Joshipura, Kaumudi; Wong, David T W

    2012-01-01

    Objective The associations between oral diseases and increased risk of pancreatic cancer have been reported in several prospective cohort studies. In this study, we measured variations of salivary microbiota and evaluated their potential associations with pancreatic cancer and chronic pancreatitis. Methods This study was divided into three phases: (1) microbial profiling using the Human Oral Microbe Identification Microarray to investigate salivary microbiota variation between 10 resectable patients with pancreatic cancer and 10 matched healthy controls, (2) identification and verification of bacterial candidates by real-time quantitative PCR (qPCR) and (3) validation of bacterial candidates by qPCR on an independent cohort of 28 resectable pancreatic cancer, 28 matched healthy control and 27 chronic pancreatitis samples. Results Comprehensive comparison of the salivary microbiota between patients with pancreatic cancer and healthy control subjects revealed a significant variation of salivary microflora. Thirty-one bacterial species/clusters were increased in the saliva of patients with pancreatic cancer (n=10) in comparison to those of the healthy controls (n=10), whereas 25 bacterial species/clusters were decreased. Two out of six bacterial candidates (Neisseria elongata and Streptococcus mitis) were validated using the independent samples, showing significant variation (p<0.05, qPCR) between patients with pancreatic cancer and controls (n=56). Additionally, two bacteria (Granulicatella adiacens and S mitis) showed significant variation (p<0.05, qPCR) between chronic pancreatitis samples and controls (n=55). The combination of two bacterial biomarkers (N elongata and S mitis) yielded a receiver operating characteristic plot area under the curve value of 0.90 (95% CI 0.78 to 0.96, p<0.0001) with a 96.4% sensitivity and 82.1% specificity in distinguishing patients with pancreatic cancer from healthy subjects. Conclusions The authors observed associations between variations of patients’ salivary microbiota with pancreatic cancer and chronic pancreatitis. This report also provides proof of salivary microbiota as an informative source for discovering non-invasive biomarkers of systemic diseases. PMID:21994333

  7. Y-Chromosome Variation in Hominids: Intraspecific Variation Is Limited to the Polygamous Chimpanzee

    PubMed Central

    Greve, Gabriele; Alechine, Evguenia; Pasantes, Juan J.; Hodler, Christine; Rietschel, Wolfram; Robinson, Terence J.; Schempp, Werner

    2011-01-01

    Background We have previously demonstrated that the Y-specific ampliconic fertility genes DAZ (deleted in azoospermia) and CDY (chromodomain protein Y) varied with respect to copy number and position among chimpanzees (Pan troglodytes). In comparison, seven Y-chromosomal lineages of the bonobo (Pan paniscus), the chimpanzee's closest living relative, showed no variation. We extend our earlier comparative investigation to include an analysis of the intraspecific variation of these genes in gorillas (Gorilla gorilla) and orangutans (Pongo pygmaeus), and examine the resulting patterns in the light of the species' markedly different social and mating behaviors. Methodology/Principal Findings Fluorescence in situ hybridization analysis (FISH) of DAZ and CDY in 12 Y-chromosomal lineages of western lowland gorilla (G. gorilla gorilla) and a single lineage of the eastern lowland gorilla (G. beringei graueri) showed no variation among lineages. Similar findings were noted for the 10 Y-chromosomal lineages examined in the Bornean orangutan (Pongo pygmaeus), and 11 Y-chromosomal lineages of the Sumatran orangutan (P. abelii). We validated the contrasting DAZ and CDY patterns using quantitative real-time polymerase chain reaction (qPCR) in chimpanzee and bonobo. Conclusion/Significance High intraspecific variation in copy number and position of the DAZ and CDY genes is seen only in the chimpanzee. We hypothesize that this is best explained by sperm competition that results in the variant DAZ and CDY haplotypes detected in this species. In contrast, bonobos, gorillas and orangutans—species that are not subject to sperm competition—showed no intraspecific variation in DAZ and CDY suggesting that monoandry in gorillas, and preferential female mate choice in bonobos and orangutans, probably permitted the fixation of a single Y variant in each taxon. These data support the notion that the evolutionary history of a primate Y chromosome is not simply encrypted in its DNA sequences, but is also shaped by the social and behavioral circumstances under which the specific species has evolved. PMID:22216243

  8. Sex Differences in Magical Ideation: A Community-Based Twin Study

    PubMed Central

    Karcher, Nicole R.; Slutske, Wendy S.; Kerns, John G.; Piasecki, Thomas M.; Martin, Nicholas G.

    2014-01-01

    Two questions regarding sex differences in magical ideation were investigated in this study: (1) whether there are mean level sex differences on the Magical Ideation Scale (MIS), and (2) whether there are quantitative and/or qualitative sex differences in the genetic contributions to variation on this scale. These questions were evaluated using data obtained from a large community sample of adult Australian twins (N=4,355) that included opposite-sex pairs. Participants completed a modified 15-item version of the MIS within a larger assessment battery. Women reported both higher means and variability on the MIS than men; this was also observed within families (in opposite-sex twin pairs). Biometric modeling indicated that the proportion of variation in MIS scores due to genetic influences (indicating quantitative sex differences) and the specific latent genetic contributions to this variation (indicating qualitative sex differences) were the same in men and women. These findings clarify the nature of sex differences in magical ideation and point to avenues for future research. PMID:24364500

  9. Algorithmic-Reducibility = Renormalization-Group Fixed-Points; ``Noise''-Induced Phase-Transitions (NITs) to Accelerate Algorithmics (``NIT-Picking'') Replacing CRUTCHES!!!: Gauss Modular/Clock-Arithmetic Congruences = Signal X Noise PRODUCTS..

    NASA Astrophysics Data System (ADS)

    Siegel, J.; Siegel, Edward Carl-Ludwig

    2011-03-01

    Cook-Levin computational-"complexity"(C-C) algorithmic-equivalence reduction-theorem reducibility equivalence to renormalization-(semi)-group phase-transitions critical-phenomena statistical-physics universality-classes fixed-points, is exploited with Gauss modular/clock-arithmetic/model congruences = signal X noise PRODUCT reinterpretation. Siegel-Baez FUZZYICS=CATEGORYICS(SON of ``TRIZ''): Category-Semantics(C-S) tabular list-format truth-table matrix analytics predicts and implements "noise"-induced phase-transitions (NITs) to accelerate versus to decelerate Harel [Algorithmics(1987)]-Sipser[Intro. Theory Computation(1997) algorithmic C-C: "NIT-picking" to optimize optimization-problems optimally(OOPO). Versus iso-"noise" power-spectrum quantitative-only amplitude/magnitude-only variation stochastic-resonance, this "NIT-picking" is "noise" power-spectrum QUALitative-type variation via quantitative critical-exponents variation. Computer-"science" algorithmic C-C models: Turing-machine, finite-state-models/automata, are identified as early-days once-workable but NOW ONLY LIMITING CRUTCHES IMPEDING latter-days new-insights!!!

  10. Creating objects and object categories for studying perception and perceptual learning.

    PubMed

    Hauffen, Karin; Bart, Eugene; Brady, Mark; Kersten, Daniel; Hegdé, Jay

    2012-11-02

    In order to quantitatively study object perception, be it perception by biological systems or by machines, one needs to create objects and object categories with precisely definable, preferably naturalistic, properties. Furthermore, for studies on perceptual learning, it is useful to create novel objects and object categories (or object classes) with such properties. Many innovative and useful methods currently exist for creating novel objects and object categories (also see refs. 7,8). However, generally speaking, the existing methods have three broad types of shortcomings. First, shape variations are generally imposed by the experimenter, and may therefore be different from the variability in natural categories, and optimized for a particular recognition algorithm. It would be desirable to have the variations arise independently of the externally imposed constraints. Second, the existing methods have difficulty capturing the shape complexity of natural objects. If the goal is to study natural object perception, it is desirable for objects and object categories to be naturalistic, so as to avoid possible confounds and special cases. Third, it is generally hard to quantitatively measure the available information in the stimuli created by conventional methods. It would be desirable to create objects and object categories where the available information can be precisely measured and, where necessary, systematically manipulated (or 'tuned'). This allows one to formulate the underlying object recognition tasks in quantitative terms. Here we describe a set of algorithms, or methods, that meet all three of the above criteria. Virtual morphogenesis (VM) creates novel, naturalistic virtual 3-D objects called 'digital embryos' by simulating the biological process of embryogenesis. Virtual phylogenesis (VP) creates novel, naturalistic object categories by simulating the evolutionary process of natural selection. Objects and object categories created by these simulations can be further manipulated by various morphing methods to generate systematic variations of shape characteristics. The VP and morphing methods can also be applied, in principle, to novel virtual objects other than digital embryos, or to virtual versions of real-world objects. Virtual objects created in this fashion can be rendered as visual images using a conventional graphical toolkit, with desired manipulations of surface texture, illumination, size, viewpoint and background. The virtual objects can also be 'printed' as haptic objects using a conventional 3-D prototyper. We also describe some implementations of these computational algorithms to help illustrate the potential utility of the algorithms. It is important to distinguish the algorithms from their implementations. The implementations are demonstrations offered solely as a 'proof of principle' of the underlying algorithms. It is important to note that, in general, an implementation of a computational algorithm often has limitations that the algorithm itself does not have. Together, these methods represent a set of powerful and flexible tools for studying object recognition and perceptual learning by biological and computational systems alike. With appropriate extensions, these methods may also prove useful in the study of morphogenesis and phylogenesis.

  11. A Longitudinal Study of Complexity, Accuracy and Fluency Variation in Second Language Development

    ERIC Educational Resources Information Center

    Ferraris, Stefania

    2012-01-01

    This chapter presents the results of a study on interlanguage variation. The production of four L2 learners of Italian, tested four times at yearly intervals while engaged in four oral tasks, is compared to that of two native speakers, and analysed with quantitative CAF measures. Thus, time, task type, nativeness, as well as group vs. individual…

  12. Monitoring temporal microstructural variations of skeletal muscle tissues by multispectral Mueller matrix polarimetry

    NASA Astrophysics Data System (ADS)

    Dong, Yang; He, Honghui; He, Chao; Ma, Hui

    2017-02-01

    Mueller matrix polarimetry is a powerful tool for detecting microscopic structures, therefore can be used to monitor physiological changes of tissue samples. Meanwhile, spectral features of scattered light can also provide abundant microstructural information of tissues. In this paper, we take the 2D multispectral backscattering Mueller matrix images of bovine skeletal muscle tissues, and analyze their temporal variation behavior using multispectral Mueller matrix parameters. The 2D images of the Mueller matrix elements are reduced to the multispectral frequency distribution histograms (mFDHs) to reveal the dominant structural features of the muscle samples more clearly. For quantitative analysis, the multispectral Mueller matrix transformation (MMT) parameters are calculated to characterize the microstructural variations during the rigor mortis and proteolysis processes of the skeletal muscle tissue samples. The experimental results indicate that the multispectral MMT parameters can be used to judge different physiological stages for bovine skeletal muscle tissues in 24 hours, and combining with the multispectral technique, the Mueller matrix polarimetry and FDH analysis can monitor the microstructural variation features of skeletal muscle samples. The techniques may be used for quick assessment and quantitative monitoring of meat qualities in food industry.

  13. Introduction beyond a species range: a relationship between population origin, adaptive potential and plant performance.

    PubMed

    Volis, S; Ormanbekova, D; Yermekbayev, K; Song, M; Shulgina, I

    2014-09-01

    The adaptive potential of a population defines its importance for species survival in changing environmental conditions such as global climate change. Very few empirical studies have examined adaptive potential across species' ranges, namely, of edge vs core populations, and we are unaware of a study that has tested adaptive potential (namely, variation in adaptive traits) and measured performance of such populations in conditions not currently experienced by the species but expected in the future. Here we report the results of a Triticum dicoccoides population study that employed transplant experiments and analysis of quantitative trait variation. Two populations at the opposite edges of the species range (1) were locally adapted; (2) had lower adaptive potential (inferred from the extent of genetic quantitative trait variation) than the two core populations; and (3) were outperformed by the plants from the core population in the novel environment. The fact that plants from the species arid edge performed worse than plants from the more mesic core in extreme drought conditions beyond the present climatic envelope of the species implies that usage of peripheral populations for conservation purposes must be based on intensive sampling of among-population variation.

  14. United States Marine Corps Basic Reconnaissance Course: Predictors of Success

    DTIC Science & Technology

    2017-03-01

    PAGE INTENTIONALLY LEFT BLANK 81 VI. CONCLUSIONS AND RECOMMENDATIONS A. CONCLUSIONS The objective of my research is to provide quantitative ...percent over the last three years, illustrating there is room for improvement. This study conducts a quantitative and qualitative analysis of the...criteria used to select candidates for the BRC. The research uses multi-variate logistic regression models and survival analysis to determine to what

  15. Factors That Contribute to Assay Variation in Quantitative Analysis of Sex Steroid Hormones Using Liquid and Gas Chromatography-Mass Spectrometry

    ERIC Educational Resources Information Center

    Xu, Xia; Veenstra, Timothy D.

    2012-01-01

    The list of physiological events in which sex steroids play a role continues to increase. To decipher the roles that sex steroids play in any condition requires high quality cohorts of samples and assays that provide highly accurate quantitative measures. Liquid and gas chromatography coupled with mass spectrometry (LC-MS and GC-MS) have…

  16. Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma

    PubMed Central

    AWADALLA, MONA S.; FINGERT, JOHN H.; ROOS, BENJAMIN E.; CHEN, SIMON; HOLMES, RICHARD; GRAHAM, STUART L.; CHEHADE, MARK; GALANOPOLOUS, ANNA; RIDGE, BRONWYN; SOUZEAU, EMMANUELLE; ZHOU, TIGER; SIGGS, OWEN M.; HEWITT, ALEX W.; MACKEY, DAVID A.; BURDON, KATHRYN P.; CRAIG, JAMIE E.

    2015-01-01

    PURPOSE To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with glaucoma comprising both normal-tension glaucoma and high-tension glaucoma cases. DESIGN A retrospective cohort study. METHODS DNA samples from patients with normal-tension glaucoma and high-tension glaucoma and unaffected controls were screened for TBK1 copy number variations using real-time quantitative polymerase chain reaction. Samples with additional copies of the TBK1 gene were further tested using custom comparative genomic hybridization arrays. RESULTS Four out of 334 normal-tension glaucoma cases (1.2%) were found to carry TBK1 copy number variations using quantitative polymerase chain reaction. One extra dose of the TBK1 gene (duplication) was detected in 3 normal-tension glaucoma patients, while 2 extra doses of the gene (triplication) were detected in a fourth normal-tension glaucoma patient. The results were further confirmed by custom comparative genomic hybridization arrays. Further, the TBK1 copy number variation segregated with normal-tension glaucoma in the family members of the probands, showing an autosomal dominant pattern of inheritance. No TBK1 copy number variations were detected in 1045 Australian patients with high-tension glaucoma or in 254 unaffected controls. CONCLUSION We report the presence of TBK1 copy number variations in our Australian normal-tension glaucoma cohort, including the first example of more than 1 extra copy of this gene in glaucoma patients (gene triplication). These results confirm TBK1 to be an important cause of normal-tension glaucoma, but do not suggest common involvement in high-tension glaucoma. PMID:25284765

  17. Litter quality versus soil microbial community controls over decomposition: a quantitative analysis

    USGS Publications Warehouse

    Cleveland, Cory C.; Reed, Sasha C.; Keller, Adrienne B.; Nemergut, Diana R.; O'Neill, Sean P.; Ostertag, Rebecca; Vitousek, Peter M.

    2014-01-01

    The possible effects of soil microbial community structure on organic matter decomposition rates have been widely acknowledged, but are poorly understood. Understanding these relationships is complicated by the fact that microbial community structure and function are likely to both affect and be affected by organic matter quality and chemistry, thus it is difficult to draw mechanistic conclusions from field studies. We conducted a reciprocal soil inoculum × litter transplant laboratory incubation experiment using samples collected from a set of sites that have similar climate and plant species composition but vary significantly in bacterial community structure and litter quality. The results showed that litter quality explained the majority of variation in decomposition rates under controlled laboratory conditions: over the course of the 162-day incubation, litter quality explained nearly two-thirds (64 %) of variation in decomposition rates, and a smaller proportion (25 %) was explained by variation in the inoculum type. In addition, the relative importance of inoculum type on soil respiration increased over the course of the experiment, and was significantly higher in microcosms with lower litter quality relative to those with higher quality litter. We also used molecular phylogenetics to examine the relationships between bacterial community composition and soil respiration in samples through time. Pyrosequencing revealed that bacterial community composition explained 32 % of the variation in respiration rates. However, equal portions (i.e., 16 %) of the variation in bacterial community composition were explained by inoculum type and litter quality, reflecting the importance of both the meta-community and the environment in bacterial assembly. Taken together, these results indicate that the effects of changing microbial community composition on decomposition are likely to be smaller than the potential effects of climate change and/or litter quality changes in response to increasing atmospheric CO2 concentrations or atmospheric nutrient deposition.

  18. Inconsistency in 9 mm bullets: correlation of jacket thickness to post-impact geometry measured with non-destructive X-ray computed tomography.

    PubMed

    Thornby, John; Landheer, Dirk; Williams, Tim; Barnes-Warden, Jane; Fenne, Paul; Norman, Danielle G; Attridge, Alex; Williams, Mark A

    2014-01-01

    Fundamental to any ballistic armour standard is the reference projectile to be defeated. Typically, for certification purposes, a consistent and symmetrical bullet geometry is assumed, however variations in bullet jacket dimensions can have far reaching consequences. Traditionally, characteristics and internal dimensions have been analysed by physically sectioning bullets--an approach which is of restricted scope and which precludes subsequent ballistic assessment. The use of a non-destructive X-ray computed tomography (CT) method has been demonstrated and validated (Kumar et al., 2011 [15]); the authors now apply this technique to correlate bullet impact response with jacket thickness variations. A set of 20 bullets (9 mm DM11) were selected for comparison and an image-based analysis method was employed to map jacket thickness and determine the centre of gravity of each specimen. Both intra- and inter-bullet variations were investigated, with thickness variations of the order of 200 μm commonly found along the length of all bullets and angular variations of up to 50 μm in some. The bullets were subsequently impacted against a rigid flat plate under controlled conditions (observed on a high-speed video camera) and the resulting deformed projectiles were re-analysed. The results of the experiments demonstrate a marked difference in ballistic performance between bullets from different manufacturers and an asymmetric thinning of the jacket is observed in regions of pre-impact weakness. The conclusions are relevant for future soft armour standards and provide important quantitative data for numerical model correlation and development. The implications of the findings of the work on the reliability and repeatability of the industry standard V50 ballistic test are also discussed. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  19. Genetic Variation in Complement Component 2 of the Classical Complement Pathway is Associated with Increased Mortality and Infection: A Study of 627 Trauma Patients

    PubMed Central

    Morris, John A.; Francois, Cedric; Olson, Paul K.; Cotton, Bryan A.; Summar, Marshall; Jenkins, Judith M.; Norris, Patrick R.; Moore, Jason H.; Williams, Anna E.; McNew, Brent S.; Canter, Jeffrey A.

    2009-01-01

    Trauma is a disease of inflammation. Complement Component 2 (C2) is a protease involved in activation of complement through the classical pathway and has been implicated in a variety of chronic inflammatory diseases. We hypothesized that genetic variation in C2 (E318D) identifies a high-risk subgroup of trauma patients reflecting increased mortality and infection (Ventilator associated pneumonia: VAP). Consequently, genetic variation in C2 may stratify patient risk and illuminate underlying mechanisms for therapeutic intervention. Methods DNA samples from 702 trauma patients were genotyped for C2 E318D and linked with covariates (age: mean 42.8 years, gender: 74% male, ethnicity: 80% Caucasian, mechanism: 84% blunt, ISS: mean 25.0, admission lactate: mean 3.13 mEq/L) and outcomes: mortality 9.9% and VAP: 18.5%. VAP was defined by quantitative bronchoalveolar lavage (>104). Multivariate regression determined the relationship of genotype and covariates to risk of death and VAP. However, patients with ISS ≥ 45 were excluded from the multivariate analysis, as magnitude of injury overwhelms genetics and covariates in determining outcome. Results 52 patients (8.3%) had the high-risk heterozygous genotype, associated with a significant increase in mortality and VAP. Conclusion In 702 trauma patients, 8.3% had a high-risk genetic variation in C2 associated with increased mortality (OR=2.65) and infection (OR=2.00). This variation: 1) Identifies a previously unknown high risk group for infection and mortality; 2) Can be determined on admission; 3) May provide opportunity for early therapeutic intervention; and 4) Requires validation in a distinct cohort of patients. PMID:19430225

  20. Responses of leaf traits to climatic gradients: adaptive variation versus compositional shifts

    NASA Astrophysics Data System (ADS)

    Meng, T.-T.; Wang, H.; Harrison, S. P.; Prentice, I. C.; Ni, J.; Wang, G.

    2015-09-01

    Dynamic global vegetation models (DGVMs) typically rely on plant functional types (PFTs), which are assigned distinct environmental tolerances and replace one another progressively along environmental gradients. Fixed values of traits are assigned to each PFT; modelled trait variation along gradients is thus driven by PFT replacement. But empirical studies have revealed "universal" scaling relationships (quantitative trait variations with climate that are similar within and between species, PFTs and communities); and continuous, adaptive trait variation has been proposed to replace PFTs as the basis for next-generation DGVMs. Here we analyse quantitative leaf-trait variation on long temperature and moisture gradients in China with a view to understanding the relative importance of PFT replacement vs. continuous adaptive variation within PFTs. Leaf area (LA), specific leaf area (SLA), leaf dry matter content (LDMC) and nitrogen content of dry matter were measured on all species at 80 sites ranging from temperate to tropical climates and from dense forests to deserts. Chlorophyll fluorescence traits and carbon, phosphorus and potassium contents were measured at 47 sites. Generalized linear models were used to relate log-transformed trait values to growing-season temperature and moisture indices, with or without PFT identity as a predictor, and to test for differences in trait responses among PFTs. Continuous trait variation was found to be ubiquitous. Responses to moisture availability were generally similar within and between PFTs, but biophysical traits (LA, SLA and LDMC) of forbs and grasses responded differently from woody plants. SLA and LDMC responses to temperature were dominated by the prevalence of evergreen PFTs with thick, dense leaves at the warm end of the gradient. Nutrient (N, P and K) responses to climate gradients were generally similar within all PFTs. Area-based nutrients generally declined with moisture; Narea and Karea declined with temperature, but Parea increased with temperature. Although the adaptive nature of many of these trait-climate relationships is understood qualitatively, a key challenge for modelling is to predict them quantitatively. Models must take into account that community-level responses to climatic gradients can be influenced by shifts in PFT composition, such as the replacement of deciduous by evergreen trees, which may run either parallel or counter to trait variation within PFTs. The importance of PFT shifts varies among traits, being important for biophysical traits but less so for physiological and chemical traits. Finally, models should take account of the diversity of trait values that is found in all sites and PFTs, representing the "pool" of variation that is locally available for the natural adaptation of ecosystem function to environmental change.

  1. Nutritionist’s Variation in Counseling Style and the Effect on Weight Change of Patients Attending a Community Based Lifestyle Modification Program

    PubMed Central

    Lok, Kris Y. W.; Chan, Ruth S. M.; Sea, Mandy M. M.; Woo, Jean

    2010-01-01

    Information concerning the nature of nutritionist-patient relationships is very limited. This qualitative and quantitative study examined nutritionist’s skills, attributes, and beliefs towards nutrition counseling during a lifestyle modification intervention program, and whether this affected the patient’s weight outcome. 24 nutrition consultations were observed during the program and the nutritionists were interviewed for their perception on practice (n = 4). A statistically significant difference was observed between the nutritionists in regard to patient’s weight change after adjustment for age and baseline weight (p < 0.001). Key nutritionist skills identified that influenced weight outcome were meticulous investigation of the underlying obesity cause, identification of the subject’s stage of change, and psychological support. PMID:20616982

  2. Effects of surface reflectance on skylight polarization measurements at the Mauna Loa Observatory.

    PubMed

    Dahlberg, Andrew R; Pust, Nathan J; Shaw, Joseph A

    2011-08-15

    An all-sky imaging polarimeter was deployed in summer 2008 to the Mauna Loa Observatory in Hawaii to study clear-sky atmospheric skylight polarization. The imager operates in five wavebands in the visible and near infrared spectrum and has a fisheye lens for all-sky viewing. This paper describes the deployment and presents comparisons of the degree of skylight polarization observed to similar data observed by Coulson with a principal-plane scanning polarimeter in the late 1970s. In general, the results compared favorably to those of Coulson. In addition, we present quantitative results correlating a variation of the maximum degree of polarization over a range of 70-85% to fluctuation in underlying surface reflectance and upwelling radiance data from the GOES satellite. © 2011 Optical Society of America

  3. Method of Continuous Variations: Applications of Job Plots to the Study of Molecular Associations in Organometallic Chemistry[**

    PubMed Central

    Renny, Joseph S.; Tomasevich, Laura L.; Tallmadge, Evan H.; Collum, David B.

    2014-01-01

    Applications of the method of continuous variations—MCV or the Method of Job—to problems of interest to organometallic chemists are described. MCV provides qualitative and quantitative insights into the stoichiometries underlying association of m molecules of A and n molecules of B to form AmBn. Applications to complex ensembles probe associations that form metal clusters and aggregates. Job plots in which reaction rates are monitored provide relative stoichiometries in rate-limiting transition structures. In a specialized variant, ligand- or solvent-dependent reaction rates are dissected into contributions in both the ground states and transition states, which affords insights into the full reaction coordinate from a single Job plot. Gaps in the literature are identified and critiqued. PMID:24166797

  4. Validation of a Chiral Liquid Chromatographic Method for the Degradation Behavior of Flumequine Enantiomers in Mariculture Pond Water.

    PubMed

    Wang, Yan-Fei; Gao, Xiao-Feng; Jin, Huo-Xi; Wang, Yang-Guang; Wu, Wei-Jian; Ouyang, Xiao-Kun

    2016-09-01

    In this work, flumequine (FLU) enantiomers were separated using a Chiralpak OD-H column, with n-hexane-ethanol (20:80, v/v) as the mobile phase at a flow rate of 0.6 mL/min. Solid phase extraction (SPE) was used for cleanup and enrichment. The limit of detection, limit of quantitation, linearity, precision, and intra/interday variation of the chiral high-performance liquid chromatography (HPLC) method were determined. The developed method was then applied to investigate the degradation behavior of FLU enantiomers in mariculture pond water samples. The results showed that the degradation of FLU enantiomers under natural, sterile, or dark conditions was not enantioselective. Chirality 28:649-655, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Restriction fragment length polymorphisms in dairy and beef cattle at the growth hormone and prolactin loci.

    PubMed

    Hallerman, E M; Nave, A; Kashi, Y; Holzer, Z; Soller, M; Beckmann, J S

    1987-01-01

    Two bovine populations, a Holstein-Friesian dairy stock and a synthetic (Baladi X Hereford X Simmental X Charolais) beef stock, were screened for restriction fragment length polymorphisms (RFLPs) at the growth hormone and prolactin genes. Most RFLPs at the growth hormone gene are apparently the consequence of an insertion/deletion event which was localized to a region downstream of the structural gene. The restriction map for the genomic region including the growth hormone gene was extended. Two HindIII RFLPs at the growth hormone locus, as well as several RFLPs at the prolactin gene, seemed to be the consequence of a series of point mutations. The results are discussed in terms of the possibility that minor genomic variability underlies quantitative genetic variation.

  6. Advanced probabilistic methods for quantifying the effects of various uncertainties in structural response

    NASA Technical Reports Server (NTRS)

    Nagpal, Vinod K.

    1988-01-01

    The effects of actual variations, also called uncertainties, in geometry and material properties on the structural response of a space shuttle main engine turbopump blade are evaluated. A normal distribution was assumed to represent the uncertainties statistically. Uncertainties were assumed to be totally random, partially correlated, and fully correlated. The magnitude of these uncertainties were represented in terms of mean and variance. Blade responses, recorded in terms of displacements, natural frequencies, and maximum stress, was evaluated and plotted in the form of probabilistic distributions under combined uncertainties. These distributions provide an estimate of the range of magnitudes of the response and probability of occurrence of a given response. Most importantly, these distributions provide the information needed to estimate quantitatively the risk in a structural design.

  7. Detection test of wireless network signal strength and GPS positioning signal in underground pipeline

    NASA Astrophysics Data System (ADS)

    Li, Li; Zhang, Yunwei; Chen, Ling

    2018-03-01

    In order to solve the problem of selecting positioning technology for inspection robot in underground pipeline environment, the wireless network signal strength and GPS positioning signal testing are carried out in the actual underground pipeline environment. Firstly, the strength variation of the 3G wireless network signal and Wi-Fi wireless signal provided by China Telecom and China Unicom ground base stations are tested, and the attenuation law of these wireless signals along the pipeline is analyzed quantitatively and described. Then, the receiving data of the GPS satellite signal in the pipeline are tested, and the attenuation of GPS satellite signal under underground pipeline is analyzed. The testing results may be reference for other related research which need to consider positioning in pipeline.

  8. Face to Face Communications in Space

    NASA Technical Reports Server (NTRS)

    Cohen, Malcolm M.; Davon, Bonnie P. (Technical Monitor)

    1999-01-01

    It has been reported that human face-to-face communications in space are compromised by facial edema, variations in the orientations of speakers and listeners, and background noises that are encountered in the shuttle and in space stations. To date, nearly all reports have been anecdotal or subjective, in the form of post-flight interviews or questionnaires; objective and quantitative data are generally lacking. Although it is acknowledged that efficient face-to-face communications are essential for astronauts to work safely and effectively, specific ways in which the space environment interferes with non-linguistic communication cues are poorly documented. Because we have only a partial understanding of how non-linguistic communication cues may change with mission duration, it is critically important to obtain objective data, and to evaluate these cues under well-controlled experimental conditions.

  9. Adaptive potential of northernmost tree populations to climate change, with emphasis on Scots pine (Pinus sylvestris L.).

    PubMed

    Savolainen, Outi; Kujala, Sonja T; Sokol, Catherina; Pyhäjärvi, Tanja; Avia, Komlan; Knürr, Timo; Kärkkäinen, Katri; Hicks, Sheila

    2011-01-01

    The adaptive potential of the northernmost Pinus sylvestris L. (and other northern tree) populations is considered by examining first the current patterns of quantitative genetic adaptive traits, which show high population differentiation and clines. We then consider the postglacial history of the populations using both paleobiological and genetic data. The current patterns of diversity at nuclear genes suggest that the traces of admixture are mostly visible in mitochondrial DNA variation patterns. There is little evidence of increased diversity due to admixture between an eastern and western colonization lineage, but no signal of reduced diversity (due to sequential bottlenecks) either. Quantitative trait variation in the north is not associated with the colonizing lineages. The current clines arose rapidly and may be based on standing genetic variation. The initial phenotypic response of Scots pine in the north is predicted to be increased survival and growth. The genetic responses are examined based on quantitative genetic predictions of sustained selection response and compared with earlier simulation results that have aimed at more ecological realism. The phenotypic responses of increased growth and survival reduce the opportunity for selection and delay the evolutionary responses. The lengthening of the thermal growing period also causes selection on the critical photoperiod in the different populations. Future studies should aim at including multiple ecological and genetic factors in evaluating potential responses.

  10. Limitations of Airway Dimension Measurement on Images Obtained Using Multi-Detector Row Computed Tomography

    PubMed Central

    Oguma, Tsuyoshi; Hirai, Toyohiro; Niimi, Akio; Matsumoto, Hisako; Muro, Shigeo; Shigematsu, Michio; Nishimura, Takashi; Kubo, Yoshiro; Mishima, Michiaki

    2013-01-01

    Objectives (a) To assess the effects of computed tomography (CT) scanners, scanning conditions, airway size, and phantom composition on airway dimension measurement and (b) to investigate the limitations of accurate quantitative assessment of small airways using CT images. Methods An airway phantom, which was constructed using various types of material and with various tube sizes, was scanned using four CT scanner types under different conditions to calculate airway dimensions, luminal area (Ai), and the wall area percentage (WA%). To investigate the limitations of accurate airway dimension measurement, we then developed a second airway phantom with a thinner tube wall, and compared the clinical CT images of healthy subjects with the phantom images scanned using the same CT scanner. The study using clinical CT images was approved by the local ethics committee, and written informed consent was obtained from all subjects. Data were statistically analyzed using one-way ANOVA. Results Errors noted in airway dimension measurement were greater in the tube of small inner radius made of material with a high CT density and on images reconstructed by body algorithm (p<0.001), and there was some variation in error among CT scanners under different fields of view. Airway wall thickness had the maximum effect on the accuracy of measurements with all CT scanners under all scanning conditions, and the magnitude of errors for WA% and Ai varied depending on wall thickness when airways of <1.0-mm wall thickness were measured. Conclusions The parameters of airway dimensions measured were affected by airway size, reconstruction algorithm, composition of the airway phantom, and CT scanner types. In dimension measurement of small airways with wall thickness of <1.0 mm, the accuracy of measurement according to quantitative CT parameters can decrease as the walls become thinner. PMID:24116105

  11. Genome Wide Association Study for Drought, Aflatoxin Resistance, and Important Agronomic Traits of Maize Hybrids in the Sub-Tropics

    PubMed Central

    Farfan, Ivan D. Barrero; De La Fuente, Gerald N.; Murray, Seth C.; Isakeit, Thomas; Huang, Pei-Cheng; Warburton, Marilyn; Williams, Paul; Windham, Gary L.; Kolomiets, Mike

    2015-01-01

    The primary maize (Zea mays L.) production areas are in temperate regions throughout the world and this is where most maize breeding is focused. Important but lower yielding maize growing regions such as the sub-tropics experience unique challenges, the greatest of which are drought stress and aflatoxin contamination. Here we used a diversity panel consisting of 346 maize inbred lines originating in temperate, sub-tropical and tropical areas testcrossed to stiff-stalk line Tx714 to investigate these traits. Testcross hybrids were evaluated under irrigated and non-irrigated trials for yield, plant height, ear height, days to anthesis, days to silking and other agronomic traits. Irrigated trials were also inoculated with Aspergillus flavus and evaluated for aflatoxin content. Diverse maize testcrosses out-yielded commercial checks in most trials, which indicated the potential for genetic diversity to improve sub-tropical breeding programs. To identify genomic regions associated with yield, aflatoxin resistance and other important agronomic traits, a genome wide association analysis was performed. Using 60,000 SNPs, this study found 10 quantitative trait variants for grain yield, plant and ear height, and flowering time after stringent multiple test corrections, and after fitting different models. Three of these variants explained 5–10% of the variation in grain yield under both water conditions. Multiple identified SNPs co-localized with previously reported QTL, which narrows the possible location of causal polymorphisms. Novel significant SNPs were also identified. This study demonstrated the potential to use genome wide association studies to identify major variants of quantitative and complex traits such as yield under drought that are still segregating between elite inbred lines. PMID:25714370

  12. Fidgetin-Like1 Is a Strong Candidate for a Dynamic Impairment of Male Meiosis Leading to Reduced Testis Weight in Mice

    PubMed Central

    L'Hôte, David; Vatin, Magalie; Auer, Jana; Castille, Johan; Passet, Bruno; Montagutelli, Xavier

    2011-01-01

    Background In a previous work, using an interspecific recombinant congenic mouse model, we reported a genomic region of 23 Mb on mouse chromosome 11 implicated in testis weight decrease and moderate teratozoospermia (∼20–30%), a Quantitative Trait Locus (QTL) called Ltw1. The objective of the present study is to identify the gene underlying this phenotype. Results In the present study, we refined the QTL position to a 5 Mb fragment encompassing only 11 genes. We showed that the low testis weight phenotype was due to kinetic alterations occurring during the first wave of the spermatogenesis where we could point out to an abnormal lengthening of spermatocyte prophase. We identify Fidgetin-like 1 (Fignl1) as the gene underlying the phenotype, since if fulfilled both the physiological and molecular characteristics required. Indeed, amongst the 11 positional candidates it is the only gene that is expressed during meiosis at the spermatocyte stage, and that presents with non-synonymous coding variations differentiating the two mouse strains at the origin of the cross. Conclusions This work prompted us to propose Fignl1 as a novel actor in mammal's male meiosis dynamics which has fundamental interest. Besides, this gene is a new potential candidate for human infertilities caused by teratozoospermia and blockades of spermatogenesis. In addition this study demonstrates that interspecific models may be useful for understanding complex quantitative traits. PMID:22110678

  13. Plant Chemistry and Local Adaptation of a Specialized Folivore

    PubMed Central

    Laukkanen, Liisa; Leimu, Roosa; Muola, Anne; Lilley, Marianna; Salminen, Juha-Pekka; Mutikainen, Pia

    2012-01-01

    Local adaptation is central for creating and maintaining spatial variation in plant-herbivore interactions. Short-lived insect herbivores feeding on long-lived plants are likely to adapt to their local host plants, because of their short generation time, poor dispersal, and geographically varying selection due to variation in plant defences. In a reciprocal feeding trial, we investigated the impact of geographic variation in plant secondary chemistry of a long-lived plant, Vincetoxicum hirundinaria, on among-population variation in local adaptation of a specialist leaf-feeding herbivore, Abrostola asclepiadis. The occurrence and degree of local adaptation varied among populations. This variation correlated with qualitative and quantitative differences in plant chemistry among the plant populations. These findings provide insights into the mechanisms driving variation in local adaptation in this specialized plant-herbivore interaction. PMID:22666493

  14. Genetic linkage map construction and QTL mapping of salt tolerance traits in Zoysiagrass (Zoysia japonica).

    PubMed

    Guo, Hailin; Ding, Wanwen; Chen, Jingbo; Chen, Xuan; Zheng, Yiqi; Wang, Zhiyong; Liu, Jianxiu

    2014-01-01

    Zoysiagrass (Zoysia Willd.) is an important warm season turfgrass that is grown in many parts of the world. Salt tolerance is an important trait in zoysiagrass breeding programs. In this study, a genetic linkage map was constructed using sequence-related amplified polymorphism markers and random amplified polymorphic DNA markers based on an F1 population comprising 120 progeny derived from a cross between Zoysia japonica Z105 (salt-tolerant accession) and Z061 (salt-sensitive accession). The linkage map covered 1211 cM with an average marker distance of 5.0 cM and contained 24 linkage groups with 242 marker loci (217 sequence-related amplified polymorphism markers and 25 random amplified polymorphic DNA markers). Quantitative trait loci affecting the salt tolerance of zoysiagrass were identified using the constructed genetic linkage map. Two significant quantitative trait loci (qLF-1 and qLF-2) for leaf firing percentage were detected; qLF-1 at 36.3 cM on linkage group LG4 with a logarithm of odds value of 3.27, which explained 13.1% of the total variation of leaf firing and qLF-2 at 42.3 cM on LG5 with a logarithm of odds value of 2.88, which explained 29.7% of the total variation of leaf firing. A significant quantitative trait locus (qSCW-1) for reduced percentage of dry shoot clipping weight was detected at 44.1 cM on LG5 with a logarithm of odds value of 4.0, which explained 65.6% of the total variation. This study provides important information for further functional analysis of salt-tolerance genes in zoysiagrass. Molecular markers linked with quantitative trait loci for salt tolerance will be useful in zoysiagrass breeding programs using marker-assisted selection.

  15. Standardized pivot shift test improves measurement accuracy.

    PubMed

    Hoshino, Yuichi; Araujo, Paulo; Ahlden, Mattias; Moore, Charity G; Kuroda, Ryosuke; Zaffagnini, Stefano; Karlsson, Jon; Fu, Freddie H; Musahl, Volker

    2012-04-01

    The variability of the pivot shift test techniques greatly interferes with achieving a quantitative and generally comparable measurement. The purpose of this study was to compare the variation of the quantitative pivot shift measurements with different surgeons' preferred techniques to a standardized technique. The hypothesis was that standardizing the pivot shift test would improve consistency in the quantitative evaluation when compared with surgeon-specific techniques. A whole lower body cadaveric specimen was prepared to have a low-grade pivot shift on one side and high-grade pivot shift on the other side. Twelve expert surgeons performed the pivot shift test using (1) their preferred technique and (2) a standardized technique. Electromagnetic tracking was utilized to measure anterior tibial translation and acceleration of the reduction during the pivot shift test. The variation of the measurement was compared between the surgeons' preferred technique and the standardized technique. The anterior tibial translation during pivot shift test was similar between using surgeons' preferred technique (left 24.0 ± 4.3 mm; right 15.5 ± 3.8 mm) and using standardized technique (left 25.1 ± 3.2 mm; right 15.6 ± 4.0 mm; n.s.). However, the variation in acceleration was significantly smaller with the standardized technique (left 3.0 ± 1.3 mm/s(2); right 2.5 ± 0.7 mm/s(2)) compared with the surgeons' preferred technique (left 4.3 ± 3.3 mm/s(2); right 3.4 ± 2.3 mm/s(2); both P < 0.01). Standardizing the pivot shift test maneuver provides a more consistent quantitative evaluation and may be helpful in designing future multicenter clinical outcome trials. Diagnostic study, Level I.

  16. Evolution in fluctuating environments: decomposing selection into additive components of the Robertson-Price equation.

    PubMed

    Engen, Steinar; Saether, Bernt-Erik

    2014-03-01

    We analyze the stochastic components of the Robertson-Price equation for the evolution of quantitative characters that enables decomposition of the selection differential into components due to demographic and environmental stochasticity. We show how these two types of stochasticity affect the evolution of multivariate quantitative characters by defining demographic and environmental variances as components of individual fitness. The exact covariance formula for selection is decomposed into three components, the deterministic mean value, as well as stochastic demographic and environmental components. We show that demographic and environmental stochasticity generate random genetic drift and fluctuating selection, respectively. This provides a common theoretical framework for linking ecological and evolutionary processes. Demographic stochasticity can cause random variation in selection differentials independent of fluctuating selection caused by environmental variation. We use this model of selection to illustrate that the effect on the expected selection differential of random variation in individual fitness is dependent on population size, and that the strength of fluctuating selection is affected by how environmental variation affects the covariance in Malthusian fitness between individuals with different phenotypes. Thus, our approach enables us to partition out the effects of fluctuating selection from the effects of selection due to random variation in individual fitness caused by demographic stochasticity. © 2013 The Author(s). Evolution © 2013 The Society for the Study of Evolution.

  17. Strain Variation in an Emerging Iridovirus of Warm-Water Fishes

    PubMed Central

    Goldberg, Tony L.; Coleman, David A.; Grant, Emily C.; Inendino, Kate R.; Philipp, David P.

    2003-01-01

    Although iridoviruses vary widely within and among genera with respect to their host range and virulence, variation within iridovirus species has been less extensively characterized. This study explores the nature and extent of intraspecific variation within an emerging iridovirus of North American warm-water fishes, largemouth bass virus (LMBV). Three LMBV isolates recovered from three distinct sources differed genetically and phenotypically. Genetically, the isolates differed in the banding patterns generated from amplified fragment length polymorphism analysis but not in their DNA sequences at two loci of different degrees of evolutionary stability. In vitro, the isolates replicated at identical rates in cell culture, as determined by real-time quantitative PCR of viral particles released into suspension. In vivo, the isolates varied over fivefold in virulence, as measured by the rate at which they induced mortality in juvenile largemouth bass. This variation was reflected in the viral loads of exposed fish, measured using real-time quantitative PCR; the most virulent viral strain also replicated to the highest level in fish. Together, these results justify the designation of these isolates as different strains of LMBV. Strain variation in iridoviruses could help explain why animal populations naturally infected with iridovirus pathogens vary so extensively in their clinical responses to infection. The results of this study are especially relevant to emerging iridoviruses of aquaculture systems and wildlife. PMID:12885900

  18. A unifying theory for genetic epidemiological analysis of binary disease data

    PubMed Central

    2014-01-01

    Background Genetic selection for host resistance offers a desirable complement to chemical treatment to control infectious disease in livestock. Quantitative genetics disease data frequently originate from field studies and are often binary. However, current methods to analyse binary disease data fail to take infection dynamics into account. Moreover, genetic analyses tend to focus on host susceptibility, ignoring potential variation in infectiousness, i.e. the ability of a host to transmit the infection. This stands in contrast to epidemiological studies, which reveal that variation in infectiousness plays an important role in the progression and severity of epidemics. In this study, we aim at filling this gap by deriving an expression for the probability of becoming infected that incorporates infection dynamics and is an explicit function of both host susceptibility and infectiousness. We then validate this expression according to epidemiological theory and by simulating epidemiological scenarios, and explore implications of integrating this expression into genetic analyses. Results Our simulations show that the derived expression is valid for a range of stochastic genetic-epidemiological scenarios. In the particular case of variation in susceptibility only, the expression can be incorporated into conventional quantitative genetic analyses using a complementary log-log link function (rather than probit or logit). Similarly, if there is moderate variation in both susceptibility and infectiousness, it is possible to use a logarithmic link function, combined with an indirect genetic effects model. However, in the presence of highly infectious individuals, i.e. super-spreaders, the use of any model that is linear in susceptibility and infectiousness causes biased estimates. Thus, in order to identify super-spreaders, novel analytical methods using our derived expression are required. Conclusions We have derived a genetic-epidemiological function for quantitative genetic analyses of binary infectious disease data, which, unlike current approaches, takes infection dynamics into account and allows for variation in host susceptibility and infectiousness. PMID:24552188

  19. A unifying theory for genetic epidemiological analysis of binary disease data.

    PubMed

    Lipschutz-Powell, Debby; Woolliams, John A; Doeschl-Wilson, Andrea B

    2014-02-19

    Genetic selection for host resistance offers a desirable complement to chemical treatment to control infectious disease in livestock. Quantitative genetics disease data frequently originate from field studies and are often binary. However, current methods to analyse binary disease data fail to take infection dynamics into account. Moreover, genetic analyses tend to focus on host susceptibility, ignoring potential variation in infectiousness, i.e. the ability of a host to transmit the infection. This stands in contrast to epidemiological studies, which reveal that variation in infectiousness plays an important role in the progression and severity of epidemics. In this study, we aim at filling this gap by deriving an expression for the probability of becoming infected that incorporates infection dynamics and is an explicit function of both host susceptibility and infectiousness. We then validate this expression according to epidemiological theory and by simulating epidemiological scenarios, and explore implications of integrating this expression into genetic analyses. Our simulations show that the derived expression is valid for a range of stochastic genetic-epidemiological scenarios. In the particular case of variation in susceptibility only, the expression can be incorporated into conventional quantitative genetic analyses using a complementary log-log link function (rather than probit or logit). Similarly, if there is moderate variation in both susceptibility and infectiousness, it is possible to use a logarithmic link function, combined with an indirect genetic effects model. However, in the presence of highly infectious individuals, i.e. super-spreaders, the use of any model that is linear in susceptibility and infectiousness causes biased estimates. Thus, in order to identify super-spreaders, novel analytical methods using our derived expression are required. We have derived a genetic-epidemiological function for quantitative genetic analyses of binary infectious disease data, which, unlike current approaches, takes infection dynamics into account and allows for variation in host susceptibility and infectiousness.

  20. Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts.

    PubMed

    Yong, Rita Y Y; Mustaffa, Su'Aidah B; Wasan, Pavandip S; Sheng, Liang; Marshall, Christian R; Scherer, Stephen W; Teo, Yik-Ying; Yap, Eric P H

    2016-07-01

    The human amylase gene locus at chromosome 1p21.1 is structurally complex. This region contains two pancreatic amylase genes, AMY2B, AMY2A, and a salivary gene AMY1. The AMY1 gene harbors extensive copy number variation (CNV), and recent studies have implicated this variation in adaptation to starch-rich diets and in association to obesity for European and Asian populations. In this study, we showed that by combining quantitative PCR and digital PCR, coupled with careful experimental design and calibration, we can improve the resolution of genotyping CNV with high copy numbers (CNs). In two East Asian populations of Chinese and Malay ethnicity studied, we observed a unique non-normal distribution of AMY1 diploid CN genotypes with even:odd CNs ratio of 4.5 (3.3-4.7), and an association between the common AMY2A CN = 2 genotype and odd CNs of AMY1, that could be explained by the underlying haplotypic structure. In two further case-control cohorts (n = 932 and 145, for Chinese and Malays, respectively), we did not observe the previously reported association between AMY1 and obesity or body mass index. Improved methods for accurately genotyping multiallelic CNV loci and understanding the haplotype complexity at the AMY1 locus are necessary for population genetics and association studies. © 2016 WILEY PERIODICALS, INC.

  1. Enhancement of the spectral selectivity of complex samples by measuring them in a frozen state at low temperatures in order to improve accuracy for quantitative analysis. Part II. Determination of viscosity for lube base oils using Raman spectroscopy.

    PubMed

    Kim, Mooeung; Chung, Hoeil

    2013-03-07

    The use of selectivity-enhanced Raman spectra of lube base oil (LBO) samples achieved by the spectral collection under frozen conditions at low temperatures was effective for improving accuracy for the determination of the kinematic viscosity at 40 °C (KV@40). A collection of Raman spectra from samples cooled around -160 °C provided the most accurate measurement of KV@40. Components of the LBO samples were mainly long-chain hydrocarbons with molecular structures that were deformable when these were frozen, and the different structural deformabilities of the components enhanced spectral selectivity among the samples. To study the structural variation of components according to the change of sample temperature from cryogenic to ambient condition, n-heptadecane and pristane (2,6,10,14-tetramethylpentadecane) were selected as representative components of LBO samples, and their temperature-induced spectral features as well as the corresponding spectral loadings were investigated. A two-dimensional (2D) correlation analysis was also employed to explain the origin for the improved accuracy. The asynchronous 2D correlation pattern was simplest at the optimal temperature, indicating the occurrence of distinct and selective spectral variations, which enabled the variation of KV@40 of LBO samples to be more accurately assessed.

  2. Experimental study of ERT monitoring ability to measure solute dispersion.

    PubMed

    Lekmine, Grégory; Pessel, Marc; Auradou, Harold

    2012-01-01

    This paper reports experimental measurements performed to test the ability of electrical resistivity tomography (ERT) imaging to provide quantitative information about transport parameters in porous media such as the dispersivity α, the mixing front velocity u, and the retardation factor R(f) associated with the sorption or trapping of the tracers in the pore structure. The flow experiments are performed in a homogeneous porous column placed between two vertical set of electrodes. Ionic and dyed tracers are injected from the bottom of the porous media over its full width. Under such condition, the mixing front is homogeneous in the transverse direction and shows an S-shape variation in the flow direction. The transport parameters are inferred from the variation of the concentration curves and are compared with data obtained from video analysis of the dyed tracer front. The variations of the transport parameters obtained from an inversion performed by the Gauss-Newton method applied on smoothness-constrained least-squares are studied in detail. While u and R(f) show a relatively small dependence on the inversion procedure, α is strongly dependent on the choice of the inversion parameters. Comparison with the video observations allows for the optimization of the parameters; these parameters are found to be robust with respect to changes in the flow condition and conductivity contrast. © 2011, The Author(s). Ground Water © 2011, National Ground Water Association.

  3. Trade-off between carbon emission and effluent quality of activated sludge processes under seasonal variations of wastewater temperature and mean cell retention time.

    PubMed

    Guo, Jingbo; Fu, Xin; Andrés Baquero, G; Sobhani, Reza; Nolasco, Daniel A; Rosso, Diego

    2016-03-15

    Over the seasonal cycles, the mean cell retention time (MCRT) of the activated sludge process is varied to compensate the wastewater temperature variations. The effects of these variations on the carbon footprint (CFP) and effluent quality index (EQI) of a conventional activated sludge (CAS) process and a nitrification/denitrification (NDN) process were quantified. The carbon emission included both biogenic and non-biogenic carbon. Carbon emissions of wasted biosolids management were also addressed. Our results confirmed that the effluent quality indicated by EQI was not necessarily improved by increasing MCRT. Higher MCRT increased the carbon emission and reduced excess sludge production, which decreased the potential for biogas energy recovery. The NDN process was preferable to the CAS process from the perspective of effluent quality. This consideration extended to the whole plant CFP if the N2O emitted during NDN was limited ([N2O]<1% [NH4(+)]removed) as the carbon emission per unit effluent quality achieved by NDN process is less than that of the CAS process. By putting forward carbon emission intensity (γ) derived from CFP and EQI, our work provides a quantitative tool for decision makers evaluating process alternatives when there is a trade-off between carbon emission and effluent quality. Copyright © 2015 Elsevier B.V. All rights reserved.

  4. Universals and cultural variation in turn-taking in conversation

    PubMed Central

    Stivers, Tanya; Enfield, N. J.; Brown, Penelope; Englert, Christina; Hayashi, Makoto; Heinemann, Trine; Hoymann, Gertie; Rossano, Federico; de Ruiter, Jan Peter; Yoon, Kyung-Eun; Levinson, Stephen C.

    2009-01-01

    Informal verbal interaction is the core matrix for human social life. A mechanism for coordinating this basic mode of interaction is a system of turn-taking that regulates who is to speak and when. Yet relatively little is known about how this system varies across cultures. The anthropological literature reports significant cultural differences in the timing of turn-taking in ordinary conversation. We test these claims and show that in fact there are striking universals in the underlying pattern of response latency in conversation. Using a worldwide sample of 10 languages drawn from traditional indigenous communities to major world languages, we show that all of the languages tested provide clear evidence for a general avoidance of overlapping talk and a minimization of silence between conversational turns. In addition, all of the languages show the same factors explaining within-language variation in speed of response. We do, however, find differences across the languages in the average gap between turns, within a range of 250 ms from the cross-language mean. We believe that a natural sensitivity to these tempo differences leads to a subjective perception of dramatic or even fundamental differences as offered in ethnographic reports of conversational style. Our empirical evidence suggests robust human universals in this domain, where local variations are quantitative only, pointing to a single shared infrastructure for language use with likely ethological foundations. PMID:19553212

  5. A multivariate analysis of genetic variation in the advertisement call of the gray treefrog, Hyla versicolor.

    PubMed

    Welch, Allison M; Smith, Michael J; Gerhardt, H Carl

    2014-06-01

    Genetic variation in sexual displays is crucial for an evolutionary response to sexual selection, but can be eroded by strong selection. Identifying the magnitude and sources of additive genetic variance underlying sexually selected traits is thus an important issue in evolutionary biology. We conducted a quantitative genetics experiment with gray treefrogs (Hyla versicolor) to investigate genetic variances and covariances among features of the male advertisement call. Two energetically expensive traits showed significant genetic variation: call duration, expressed as number of pulses per call, and call rate, represented by its inverse, call period. These two properties also showed significant genetic covariance, consistent with an energetic constraint to call production. Combining the genetic variance-covariance matrix with previous estimates of directional sexual selection imposed by female preferences predicts a limited increase in call duration but no change in call rate despite significant selection on both traits. In addition to constraints imposed by the genetic covariance structure, an evolutionary response to sexual selection may also be limited by high energetic costs of long-duration calls and by preferences that act most strongly against very short-duration calls. Meanwhile, the persistence of these preferences could be explained by costs of mating with males with especially unattractive calls. © 2014 The Author(s). Evolution © 2014 The Society for the Study of Evolution.

  6. A worldwide analysis of within-canopy variations in leaf structural, chemical and physiological traits across plant functional types.

    PubMed

    Niinemets, Ülo; Keenan, Trevor F; Hallik, Lea

    2015-02-01

    Extensive within-canopy light gradients importantly affect the photosynthetic productivity of leaves in different canopy positions and lead to light-dependent increases in foliage photosynthetic capacity per area (AA). However, the controls on AA variations by changes in underlying traits are poorly known. We constructed an unprecedented worldwide database including 831 within-canopy gradients with standardized light estimates for 304 species belonging to major vascular plant functional types, and analyzed within-canopy variations in 12 key foliage structural, chemical and physiological traits by quantitative separation of the contributions of different traits to photosynthetic acclimation. Although the light-dependent increase in AA is surprisingly similar in different plant functional types, they differ fundamentally in the share of the controls on AA by constituent traits. Species with high rates of canopy development and leaf turnover, exhibiting highly dynamic light environments, actively change AA by nitrogen reallocation among and partitioning within leaves. By contrast, species with slow leaf turnover exhibit a passive AA acclimation response, primarily determined by the acclimation of leaf structure to growth light. This review emphasizes that different combinations of traits are responsible for within-canopy photosynthetic acclimation in different plant functional types, and solves an old enigma of the role of mass- vs area-based traits in vegetation acclimation. © 2014 The Authors. New Phytologist © 2014 New Phytologist Trust.

  7. Genetic architecture of the circadian clock and flowering time in Brassica rapa.

    PubMed

    Lou, P; Xie, Q; Xu, X; Edwards, C E; Brock, M T; Weinig, C; McClung, C R

    2011-08-01

    The circadian clock serves to coordinate physiology and behavior with the diurnal cycles derived from the daily rotation of the earth. In plants, circadian rhythms contribute to growth and yield and, hence, to both agricultural productivity and evolutionary fitness. Arabidopsis thaliana has served as a tractable model species in which to dissect clock mechanism and function, but it now becomes important to define the extent to which the Arabidopsis model can be extrapolated to other species, including crops. Accordingly, we have extended our studies to the close Arabidopsis relative and crop species, Brassica rapa. We have investigated natural variation in circadian function and flowering time among multiple B. rapa collections. There is wide variation in clock function, based on a robust rhythm in cotyledon movement, within a collection of B. rapa accessions, wild populations and recombinant inbred lines (RILs) derived from a cross between parents from two distinct subspecies, a rapid cycling Chinese cabbage (ssp. pekinensis) and a Yellow Sarson oilseed (ssp. trilocularis). We further analyzed the RILs to identify the quantitative trait loci (QTL) responsible for this natural variation in clock period and temperature compensation, as well as for flowering time under different temperature and day length settings. Most clock and flowering-time QTL mapped to overlapping chromosomal loci. We have exploited micro-synteny between the Arabidopsis and B. rapa genomes to identify candidate genes for these QTL.

  8. Quantitative cell biology: the essential role of theory.

    PubMed

    Howard, Jonathon

    2014-11-05

    Quantitative biology is a hot area, as evidenced by the recent establishment of institutes, graduate programs, and conferences with that name. But what is quantitative biology? What should it be? And how can it contribute to solving the big questions in biology? The past decade has seen very rapid development of quantitative experimental techniques, especially at the single-molecule and single-cell levels. In this essay, I argue that quantitative biology is much more than just the quantitation of these experimental results. Instead, it should be the application of the scientific method by which measurement is directed toward testing theories. In this view, quantitative biology is the recognition that theory and models play critical roles in biology, as they do in physics and engineering. By tying together experiment and theory, quantitative biology promises a deeper understanding of underlying mechanisms, when the theory works, or to new discoveries, when it does not. © 2014 Howard. This article is distributed by The American Society for Cell Biology under license from the author(s). Two months after publication 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).

  9. Quantitative analysis of anti-inflammatory and radical scavenging triterpenoid esters in evening primrose seeds.

    PubMed

    Zaugg, Janine; Potterat, Olivier; Plescher, Andreas; Honermeier, Bernd; Hamburger, Matthias

    2006-09-06

    Lipophilic triterpenoidal esters with radical scavenging and cyclooxygenase inhibitory properties were recently found in cold-pressed, nonraffinated evening primrose oil (EPO). A quantitative assay for the analysis of 3-O-trans-caffeoyl derivatives of betulinic, morolic, and oleanolic acid in evening primrose seeds was developed and validated. Extraction efficiency >99% was achieved by means of pressurized liquid extraction with two extraction cycles and 80% (v/v) ethanol at 120 degrees C. Analysis of esters was by normal-phase high-performance liquid chromatography on a Diol column and hexane/ethyl acetate (containing 0.1% formic acid) (65:35) as the eluent. The analytes were determined without further prepurification. Seeds from defined cultures of Oenothera biennis, Oenothera lamarckiana, and Oenothera ammophila, grown under identical conditions, were analyzed. The cultures originated from seeds from eight collections in the wild and from selections from five cultivars. The content of total triterpenoidal esters in seeds varied between 1.34 and 2.78 mg/g. Three types of qualitative patterns were observed for the triterpenoidal esters. The influence of different harvest times and plant treatments was studied with the cultivar Anothera. Variations between 1.5 and 2.3 mg/g were found.

  10. Marker-based quantitative genetics in the wild?: the heritability and genetic correlation of chemical defenses in eucalyptus.

    PubMed

    Andrew, R L; Peakall, R; Wallis, I R; Wood, J T; Knight, E J; Foley, W J

    2005-12-01

    Marker-based methods for estimating heritability and genetic correlation in the wild have attracted interest because traditional methods may be impractical or introduce bias via G x E effects, mating system variation, and sampling effects. However, they have not been widely used, especially in plants. A regression-based approach, which uses a continuous measure of genetic relatedness, promises to be particularly appropriate for use in plants with mixed-mating systems and overlapping generations. Using this method, we found significant narrow-sense heritability of foliar defense chemicals in a natural population of Eucalyptus melliodora. We also demonstrated a genetic basis for the phenotypic correlation underlying an ecological example of conditioned flavor aversion involving different biosynthetic pathways. Our results revealed that heritability estimates depend on the spatial scale of the analysis in a way that offers insight into the distribution of genetic and environmental variance. This study is the first to successfully use a marker-based method to measure quantitative genetic parameters in a tree. We suggest that this method will prove to be a useful tool in other studies and offer some recommendations for future applications of the method.

  11. Verification of watershed vegetation restoration policies, arid China

    PubMed Central

    Zhang, Chengqi; Li, Yu

    2016-01-01

    Verification of restoration policies that have been implemented is of significance to simultaneously reduce global environmental risks while also meeting economic development goals. This paper proposed a novel method according to the idea of multiple time scales to verify ecological restoration policies in the Shiyang River drainage basin, arid China. We integrated modern pollen transport characteristics of the entire basin and pollen records from 8 Holocene sedimentary sections, and quantitatively reconstructed the millennial-scale changes of watershed vegetation zones by defining a new pollen-precipitation index. Meanwhile, Empirical Orthogonal Function method was used to quantitatively analyze spatial and temporal variations of Normalized Difference Vegetation Index in summer (June to August) of 2000–2014. By contrasting the vegetation changes that mainly controlled by millennial-scale natural ecological evolution with that under conditions of modern ecological restoration measures, we found that vegetation changes of the entire Shiyang River drainage basin are synchronous in both two time scales, and the current ecological restoration policies met the requirements of long-term restoration objectives and showed promising early results on ecological environmental restoration. Our findings present an innovative method to verify river ecological restoration policies, and also provide the scientific basis to propose future emphasizes of ecological restoration strategies. PMID:27470948

  12. Verification of watershed vegetation restoration policies, arid China

    NASA Astrophysics Data System (ADS)

    Zhang, Chengqi; Li, Yu

    2016-07-01

    Verification of restoration policies that have been implemented is of significance to simultaneously reduce global environmental risks while also meeting economic development goals. This paper proposed a novel method according to the idea of multiple time scales to verify ecological restoration policies in the Shiyang River drainage basin, arid China. We integrated modern pollen transport characteristics of the entire basin and pollen records from 8 Holocene sedimentary sections, and quantitatively reconstructed the millennial-scale changes of watershed vegetation zones by defining a new pollen-precipitation index. Meanwhile, Empirical Orthogonal Function method was used to quantitatively analyze spatial and temporal variations of Normalized Difference Vegetation Index in summer (June to August) of 2000-2014. By contrasting the vegetation changes that mainly controlled by millennial-scale natural ecological evolution with that under conditions of modern ecological restoration measures, we found that vegetation changes of the entire Shiyang River drainage basin are synchronous in both two time scales, and the current ecological restoration policies met the requirements of long-term restoration objectives and showed promising early results on ecological environmental restoration. Our findings present an innovative method to verify river ecological restoration policies, and also provide the scientific basis to propose future emphasizes of ecological restoration strategies.

  13. Quantitative genetics of age at reproduction in wild swans: Support for antagonistic pleiotropy models of senescence

    PubMed Central

    Charmantier, Anne; Perrins, Christopher; McCleery, Robin H.; Sheldon, Ben C.

    2006-01-01

    Why do individuals stop reproducing after a certain age, and how is this age determined? The antagonistic pleiotropy theory for the evolution of senescence predicts that increased early-life performance should be accompanied by earlier (or faster) senescence. Hence, an individual that has started to breed early should also lose its reproductive capacities early. We investigate here the relationship between age at first reproduction (AFR) and age at last reproduction (ALR) in a free-ranging mute swan (Cygnus olor) population monitored for 36 years. Using multivariate analyses on the longitudinal data, we show that both traits are strongly selected in opposite directions. Analysis of the phenotypic covariance between these characters shows that individuals vary in their inherent quality, such that some individuals have earlier AFR and later ALR than expected. Quantitative genetic pedigree analyses show that both traits possess additive genetic variance but also that AFR and ALR are positively genetically correlated. Hence, although both traits display heritable variation and are under opposing directional selection, their evolution is constrained by a strong evolutionary tradeoff. These results are consistent with the theory that increased early-life performance comes with faster senescence because of genetic tradeoffs. PMID:16618935

  14. Exploring Valid Reference Genes for Quantitative Real-time PCR Analysis in Plutella xylostella (Lepidoptera: Plutellidae)

    PubMed Central

    Fu, Wei; Xie, Wen; Zhang, Zhuo; Wang, Shaoli; Wu, Qingjun; Liu, Yong; Zhou, Xiaomao; Zhou, Xuguo; Zhang, Youjun

    2013-01-01

    Abstract: Quantitative real-time PCR (qRT-PCR), a primary tool in gene expression analysis, requires an appropriate normalization strategy to control for variation among samples. The best option is to compare the mRNA level of a target gene with that of reference gene(s) whose expression level is stable across various experimental conditions. In this study, expression profiles of eight candidate reference genes from the diamondback moth, Plutella xylostella, were evaluated under diverse experimental conditions. RefFinder, a web-based analysis tool, integrates four major computational programs including geNorm, Normfinder, BestKeeper, and the comparative ΔCt method to comprehensively rank the tested candidate genes. Elongation factor 1 (EF1) was the most suited reference gene for the biotic factors (development stage, tissue, and strain). In contrast, although appropriate reference gene(s) do exist for several abiotic factors (temperature, photoperiod, insecticide, and mechanical injury), we were not able to identify a single universal reference gene. Nevertheless, a suite of candidate reference genes were specifically recommended for selected experimental conditions. Our finding is the first step toward establishing a standardized qRT-PCR analysis of this agriculturally important insect pest. PMID:23983612

  15. Spatio-temporal variability of evapotranspiration and energy fluxes over Heihe River Basin, China

    NASA Astrophysics Data System (ADS)

    Xu, Z.; Liu, S.; Xu, T.; Song, L.; Wang, X.

    2017-12-01

    Evapotranspiration (ET) is an essential component of energy and water budgets and is an important process in the soil-plant-atmosphere continuum (SPAC). Some important ecosystem parameters and processes, such as soil moisture, vegetation productivity, ecosystem energy, water, and nutrient budgets, are influenced by ET. The Heihe River Basin (HRB) is the second largest inland river, with an area of approximately 140,000 km2. A diverse land covers are distributing in HRB, which is characterized by distinct cold and arid landscapes, glaciers, frozen soil, alpine meadow, forest, irrigated crops, riparian ecosystem, and desert from upstream to downstream. Up to now, there was not a quantitative characterization of ET and energy flux over HRB; therefore, special attention should be paid on this term. A comprehensive hydrometeorological observatory was established since 2008 and completed in 2013. The network included 3 superstations and 18 ordinary stations, covering the main underlying surfaces in the basin, including alpine meadow, cropland, desert, wetland, frozen soil, Tamarix chinensis, and Populus euphratica, etc. Reliable data were obtained after the routine instrument maintenance and carefully data processing. ET and energy flux observations were made more than 5 years (2012-2017) using eddy covariance (EC) systems and large aperture scintillometers (LAS), and the seasonal and interannual variability of ET and its influencing factors were quantitatively analyzed with ET in main underlying surfaces of 400-580 mm in alpine meadow (upstream), 600-700 mm in cropland (midstream), 500-650 mm in riparian forest (downstream), 40 mm in desert (downstream). Meanwhile, the spatial distributions of ET were investigated based on site observations using machine learning techniques. Further, ET partitioning (evaporation (E) and transpiration (T)) was acquired through a method of underlying water use efficiency based on EC observations. The spatial variations of E and T were also given using DTD (Dual-Temperature Difference) model. In this study, a quantitative spatial-temporal variability of ET was characterized as well as the characterizations of E and T, which was significant to understand the water cycle over HRB and helpful to the subsequent researchers.

  16. Genetics of Variation in Serum Uric Acid and Cardiovascular Risk Factors in Mexican Americans

    PubMed Central

    Voruganti, V. Saroja; Nath, Subrata D.; Cole, Shelley A.; Thameem, Farook; Jowett, Jeremy B.; Bauer, Richard; MacCluer, Jean W.; Blangero, John; Comuzzie, Anthony G.; Abboud, Hanna E.; Arar, Nedal H.

    2009-01-01

    Background: Elevated serum uric acid is associated with several cardiovascular disease (CVD) risk factors such as hypertension, inflammation, endothelial dysfunction, insulin resistance, dyslipidemia, and obesity. However, the role of uric acid as an independent risk factor for CVD is not yet clear. Objective: The aim of the study was to localize quantitative trait loci regulating variation in serum uric acid and also establish the relationship between serum uric acid and other CVD risk factors in Mexican Americans (n = 848; men = 310, women = 538) participating in the San Antonio Family Heart Study. Methods: Quantitative genetic analysis was conducted using variance components decomposition method, implemented in the software program SOLAR. Results: Mean ± sd of serum uric acid was 5.35 ± 1.38 mg/dl. Univariate genetic analysis showed serum uric acid and other CVD risk markers to be significantly heritable (P < 0.005). Bivariate analysis showed significant correlation of serum uric acid with body mass index, waist circumference, waist/hip ratio, total body fat, plasma insulin, serum triglycerides, high-density lipoprotein cholesterol, C-reactive protein, and granulocyte macrophage-colony stimulating factor (P < 0.05). A genome-wide scan for detecting quantitative trait loci regulating serum uric acid variation showed a significant logarithm of odds (LOD) score of 4.72 (empirical LOD score = 4.62; P < 0.00001) on chromosome 3p26. One LOD support interval contains 25 genes, of which an interesting candidate gene is chemokine receptor 2. Summary: There is a significant genetic component in the variation in serum uric acid and evidence of pleiotropy between serum uric acid and other cardiovascular risk factors. PMID:19001525

  17. Twoplex 12/13 C6 aniline stable isotope and linkage-specific sialic acid labeling 2D-LC-MS workflow for quantitative N-glycomics.

    PubMed

    Albrecht, Simone; Mittermayr, Stefan; Smith, Josh; Martín, Silvia Millán; Doherty, Margaret; Bones, Jonathan

    2017-01-01

    Quantitative glycomics represents an actively expanding research field ranging from the discovery of disease-associated glycan alterations to the quantitative characterization of N-glycans on therapeutic proteins. Commonly used analytical platforms for comparative relative quantitation of complex glycan samples include MALDI-TOF-MS or chromatographic glycan profiling with subsequent data alignment and statistical evaluation. Limitations of such approaches include run-to-run technical variation and the potential introduction of subjectivity during data processing. Here, we introduce an offline 2D LC-MS E workflow for the fractionation and relative quantitation of twoplex isotopically labeled N-linked oligosaccharides using neutral 12 C 6 and 13 C 6 aniline (Δmass = 6 Da). Additional linkage-specific derivatization of sialic acids using 4-(4,6-dimethoxy-1,3,5-trizain-2-yl)-4-methylmorpholinium chloride offered simultaneous and advanced in-depth structural characterization. The potential of the method was demonstrated for the differential analysis of structurally defined N-glycans released from serum proteins of patients diagnosed with various stages of colorectal cancer. The described twoplex 12 C 6 / 13 C 6 aniline 2D LC-MS platform is ideally suited for differential glycomic analysis of structurally complex N-glycan pools due to combination and analysis of samples in a single LC-MS injection and the associated minimization in technical variation. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  18. The genetic architecture of maize height.

    PubMed

    Peiffer, Jason A; Romay, Maria C; Gore, Michael A; Flint-Garcia, Sherry A; Zhang, Zhiwu; Millard, Mark J; Gardner, Candice A C; McMullen, Michael D; Holland, James B; Bradbury, Peter J; Buckler, Edward S

    2014-04-01

    Height is one of the most heritable and easily measured traits in maize (Zea mays L.). Given a pedigree or estimates of the genomic identity-by-state among related plants, height is also accurately predictable. But, mapping alleles explaining natural variation in maize height remains a formidable challenge. To address this challenge, we measured the plant height, ear height, flowering time, and node counts of plants grown in >64,500 plots across 13 environments. These plots contained >7300 inbreds representing most publically available maize inbreds in the United States and families of the maize Nested Association Mapping (NAM) panel. Joint-linkage mapping of quantitative trait loci (QTL), fine mapping in near isogenic lines (NILs), genome-wide association studies (GWAS), and genomic best linear unbiased prediction (GBLUP) were performed. The heritability of maize height was estimated to be >90%. Mapping NAM family-nested QTL revealed the largest explained 2.1 ± 0.9% of height variation. The effects of two tropical alleles at this QTL were independently validated by fine mapping in NIL families. Several significant associations found by GWAS colocalized with established height loci, including brassinosteroid-deficient dwarf1, dwarf plant1, and semi-dwarf2. GBLUP explained >80% of height variation in the panels and outperformed bootstrap aggregation of family-nested QTL models in evaluations of prediction accuracy. These results revealed maize height was under strong genetic control and had a highly polygenic genetic architecture. They also showed that multiple models of genetic architecture differing in polygenicity and effect sizes can plausibly explain a population's variation in maize height, but they may vary in predictive efficacy.

  19. Usual normalization strategies for gene expression studies impair the detection and analysis of circadian patterns.

    PubMed

    Figueredo, Diego de Siqueira; Barbosa, Mayara Rodrigues; Coimbra, Daniel Gomes; Dos Santos, José Luiz Araújo; Costa, Ellyda Fernanda Lopes; Koike, Bruna Del Vechio; Alexandre Moreira, Magna Suzana; de Andrade, Tiago Gomes

    2018-03-01

    Recent studies have shown that transcriptomes from different tissues present circadian oscillations. Therefore, the endogenous variation of total RNA should be considered as a potential bias in circadian studies of gene expression. However, normalization strategies generally include the equalization of total RNA concentration between samples prior to cDNA synthesis. Moreover, endogenous housekeeping genes (HKGs) frequently used for data normalization may exhibit circadian variation and distort experimental results if not detected or considered. In this study, we controlled experimental conditions from the amount of initial brain tissue samples through extraction steps, cDNA synthesis, and quantitative real time PCR (qPCR) to demonstrate a circadian oscillation of total RNA concentration. We also identified that the normalization of the RNA's yield affected the rhythmic profiles of different genes, including Per1-2 and Bmal1. Five widely used HKGs (Actb, Eif2a, Gapdh, Hprt1, and B2m) also presented rhythmic variations not detected by geNorm algorithm. In addition, the analysis of exogenous microRNAs (Cel-miR-54 and Cel-miR-39) spiked during RNA extraction suggests that the yield was affected by total RNA concentration, which may impact circadian studies of small RNAs. The results indicate that the approach of tissue normalization without total RNA equalization prior to cDNA synthesis can avoid bias from endogenous broad variations in transcript levels. Also, the circadian analysis of 2 -Cycle threshold (Ct) data, without HKGs, may be an alternative for chronobiological studies under controlled experimental conditions.

  20. Human Facial Shape and Size Heritability and Genetic Correlations.

    PubMed

    Cole, Joanne B; Manyama, Mange; Larson, Jacinda R; Liberton, Denise K; Ferrara, Tracey M; Riccardi, Sheri L; Li, Mao; Mio, Washington; Klein, Ophir D; Santorico, Stephanie A; Hallgrímsson, Benedikt; Spritz, Richard A

    2017-02-01

    The human face is an array of variable physical features that together make each of us unique and distinguishable. Striking familial facial similarities underscore a genetic component, but little is known of the genes that underlie facial shape differences. Numerous studies have estimated facial shape heritability using various methods. Here, we used advanced three-dimensional imaging technology and quantitative human genetics analysis to estimate narrow-sense heritability, heritability explained by common genetic variation, and pairwise genetic correlations of 38 measures of facial shape and size in normal African Bantu children from Tanzania. Specifically, we fit a linear mixed model of genetic relatedness between close and distant relatives to jointly estimate variance components that correspond to heritability explained by genome-wide common genetic variation and variance explained by uncaptured genetic variation, the sum representing total narrow-sense heritability. Our significant estimates for narrow-sense heritability of specific facial traits range from 28 to 67%, with horizontal measures being slightly more heritable than vertical or depth measures. Furthermore, for over half of facial traits, >90% of narrow-sense heritability can be explained by common genetic variation. We also find high absolute genetic correlation between most traits, indicating large overlap in underlying genetic loci. Not surprisingly, traits measured in the same physical orientation (i.e., both horizontal or both vertical) have high positive genetic correlations, whereas traits in opposite orientations have high negative correlations. The complex genetic architecture of facial shape informs our understanding of the intricate relationships among different facial features as well as overall facial development. Copyright © 2017 by the Genetics Society of America.

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