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Sample records for european mathematical genetics

  1. Management Mathematics for european schools

    OpenAIRE

    Lagares Barreiro, Paula; Perea Rojas-Marcos, Federico; Puerto Albandoz, Justo; Palacios Latasa, Manuel Pedro (Coordinador); Trujillo, David; Torrens Iñigo, Juan José (Coordinador); Madaune-Tort, Monique; López de Silanes Busto, María Cruz (Coordinador); Sanz Sáiz, Gerardo (Coordinador)

    2004-01-01

    Beyond the topics, the Mathematics folklore says that pupils think that this field is a boring, non-practical mental exercise, far apart from daily life. This thought is influencing the entire education system and even society, motivating important lack of mathematical skills among students. This work presents experiences, developed within the MaMaEuSch project oriented to stimulate and enforce the study of Mathematics among the students in the High-School education level.

  2. The Mathematical Basis of Mendelian Genetics

    Science.gov (United States)

    Dudley, B.

    1972-01-01

    Applies set theory to the mono- and dihybrid Mendelian genetic crosses, multiple allelism, sex linkage, and linkage to show the application of mathematics to biology teaching (and of biology examples to mathematics instruction). (AL)

  3. European Congress of Mathematics: Amsterdam, 14-18 July, 2008

    NARCIS (Netherlands)

    Ran, A.; te Riele, H.; Wiegerinck, J.

    2010-01-01

    The European Congress of Mathematics, held every four years, has established itself as a major international mathematical event. Following those in Paris (1992), Budapest (1996), Barcelona (2000) and Stockholm (2004), the Fifth European Congress of Mathematics (5ECM) took place in Amsterdam, The

  4. 2nd European Congress of Mathematics

    CERN Document Server

    Katona, G; Recski, A; Sza’sz, D

    1998-01-01

    This is the second volume of the procedings of the second European Congress of Mathematics. Volume I presents the speeches delivered at the Congress, the list of lectures, and short summaries of the achievements of the prize winners. Together with volume II it contains a collection of contributions by the invited lecturers. Finally, volume II also presents reports on some of the Round Table discussions. This two-volume set thus gives an overview of the state of the art in many fields of mathematics and is therefore of interest to every professional mathematician. Contributors: Vol. I: N. Alon, L. Ambrosio, K. Astala, R. Benedetti, Ch. Bessenrodt, F. Bethuel, P. Bjørstad, E. Bolthausen, J. Bricmont, A. Kupiainen, D. Burago, L. Caporaso, U. Dierkes, I. Dynnikov, L.H. Eliasson, W.T. Gowers, H. Hedenmalm, A. Huber, J. Kaczorowski, J. Kollár, D.O. Kramkov, A.N. Shiryaev, C. Lescop, R. März. Vol. II: J. Matousek, D. McDuff, A.S. Merkurjev, V. Milman, St. Müller, T. Nowicki, E. Olivieri, E. Scoppola, V.P. Platon...

  5. European Success Stories in Industrial Mathematics

    CERN Document Server

    Esteban, Maria J; Lery, Thibaut; Maday, Yvon

    2011-01-01

    This unique book presents real world success stories of collaboration between mathematicians and industrial partners, showcasing first-hand case studies, and lessons learned from the experiences, technologies, and business challenges that led to the successful development of industrial solutions based on mathematics. It shows the crucial contribution of mathematics to innovation and to the industrial creation of value, and the key position of mathematics in the handling of complex systems, amplifying innovation. Each story describes the challenge that led to the industrial cooperation, how the

  6. 18th European Conference on Mathematics for Industry

    CERN Document Server

    Capasso, Vincenzo; Nicosia, Giuseppe; Romano, Vittorio

    2016-01-01

    This book presents a collection of papers emphasizing applications of mathematical models and methods to real-world problems of relevance for industry, life science, environment, finance, and so on. The biannual Conference of ECMI (the European Consortium of Mathematics in Industry) held in 2014 focused on various aspects of industrial and applied mathematics. The five main topics addressed at the conference were mathematical models in life science, material science and semiconductors, mathematical methods in the environment, design automation and industrial applications, and computational finance. Several other topics have been treated, such as, among others, optimization and inverse problems, education, numerical methods for stiff pdes, model reduction, imaging processing, multi physics simulation, mathematical models in textile industry. The conference, which brought together applied mathematicians and experts from industry, provided a unique opportunity to exchange ideas, problems and methodologies...

  7. Euler European Libraries and Electronic Resources in Mathematical Sciences

    CERN Document Server

    The Euler Project. Karlsruhe

    The European Libraries and Electronic Resources (EULER) Project in Mathematical Sciences provides the EulerService site for searching out "mathematical resources such as books, pre-prints, web-pages, abstracts, proceedings, serials, technical reports preprints) and NetLab (for Internet resources), this outstanding engine is capable of simple, full, and refined searches. It also offers a browse option, which responds to entries in the author, keyword, and title fields. Further information about the Project is provided at the EULER homepage.

  8. 10th European Conference on Numerical Mathematics and Advanced Applications

    CERN Document Server

    Deparis, Simone; Kressner, Daniel; Nobile, Fabio; Picasso, Marco

    2015-01-01

    This book gathers a selection of invited and contributed lectures from the European Conference on Numerical Mathematics and Advanced Applications (ENUMATH) held in Lausanne, Switzerland, August 26-30, 2013. It provides an overview of recent developments in numerical analysis, computational mathematics and applications from leading experts in the field. New results on finite element methods, multiscale methods, numerical linear algebra and discretization techniques for fluid mechanics and optics are presented. As such, the book offers a valuable resource for a wide range of readers looking for a state-of-the-art overview of advanced techniques, algorithms and results in numerical mathematics and scientific computing.

  9. Can the genetic code be mathematically described?

    Science.gov (United States)

    Gonzalez, Diego L

    2004-04-01

    From a mathematical point of view, the genetic code is a surjective mapping between the set of the 64 possible three-base codons and the set of 21 elements composed of the 20 amino acids plus the Stop signal. Redundancy and degeneracy therefore follow. In analogy with the genetic code, non-power integer-number representations are also surjective mappings between sets of different cardinality and, as such, also redundant. However, none of the non-power arithmetics studied so far nor other alternative redundant representations are able to match the actual degeneracy of the genetic code. In this paper we develop a slightly more general framework that leads to the following surprising results: i) the degeneracy of the genetic code is mathematically described, ii) a new symmetry is uncovered within this degeneracy, iii) by assigning a binary string to each of the codons, their classification into definite parity classes according to the corresponding sequence of bases is made possible. This last result is particularly appealing in connection with the fact that parity coding is the basis of the simplest strategies devised for error correction in man-made digital data transmission systems.

  10. Mathematics in middle schools in Western European countries

    NARCIS (Netherlands)

    Pelgrum, W.J.

    1988-01-01

    The International Association for the Evaluation of Educational Achievement has conducted a number of cross-national studies in which Western European countries participated. Results from the Second International Mathematics Study regarding the content and outcomes of this study in some Western

  11. Some pioneers of European human genetics.

    Science.gov (United States)

    Harper, Peter S

    2017-05-10

    Some of the pioneers of human genetics across Europe are described, based on a series of 100 recorded interviews made by the author. These interviews, and the memories of earlier workers in the field recalled by interviewees, provide a vivid picture, albeit incomplete, of the early years of human and medical genetics. From small beginnings in the immediate post-World War 2 years, human genetics grew rapidly across many European countries, a powerful factor being the development of human cytogenetics, stimulated by concerns over the risks of radiation exposure. Medical applications soon followed, with the recognition of human chromosome abnormalities, the need for genetic counselling, the possibility of prenatal diagnosis and later, the applications of human molecular genetics. The evolution of the field has been strongly influenced by the characters and interests of the relatively small number of founding workers in different European countries, as well as by wider social, medical and scientific factors in the individual countries.European Journal of Human Genetics advance online publication, 10 May 2017; doi:10.1038/ejhg.2017.47.

  12. Genetic diversity of 11 European pig breeds

    NARCIS (Netherlands)

    Lavall, G.; Iannuccelli, N.; Legault, C.; Milan, D.; Groenen, M.A.M.; Andersson, L.; Fredholm, M.; Geldermann, H.; Foulley, J.L.; Chevalet, C.; Ollivier, L.

    2000-01-01

    A set of eleven pig breeds originating from six European countries, and including a small sample of wild pigs, was chosen for this study of genetic diversity. Diversity was evaluated on the basis of 18 microsatellite markers typed over a total of 483 DNA samples collected. Average breed

  13. Investigating European genetic history through computer simulations.

    Science.gov (United States)

    Currat, Mathias; Silva, Nuno M

    2013-01-01

    The genetic diversity of Europeans has been shaped by various evolutionary forces including their demographic history. Genetic data can thus be used to draw inferences on the population history of Europe using appropriate statistical methods such as computer simulation, which constitutes a powerful tool to study complex models. Here, we focus on spatially explicit simulation, a method which takes population movements over space and time into account. We present its main principles and then describe a series of studies using this approach that we consider as particularly significant in the context of European prehistory. All simulation studies agree that ancient demographic events played a significant role in the establishment of the European gene pool; but while earlier works support a major genetic input from the Near East during the Neolithic transition, the most recent ones revalue positively the contribution of pre-Neolithic hunter-gatherers and suggest a possible impact of very ancient demographic events. This result of a substantial genetic continuity from pre-Neolithic times to the present challenges some recent studies analyzing ancient DNA. We discuss the possible reasons for this discrepancy and identify future lines of investigation in order to get a better understanding of European evolution.

  14. European Conference on Numerical Mathematics and Advanced Applications

    CERN Document Server

    Manguoğlu, Murat; Tezer-Sezgin, Münevver; Göktepe, Serdar; Uğur, Ömür

    2016-01-01

    The European Conference on Numerical Mathematics and Advanced Applications (ENUMATH), held every 2 years, provides a forum for discussing recent advances in and aspects of numerical mathematics and scientific and industrial applications. The previous ENUMATH meetings took place in Paris (1995), Heidelberg (1997), Jyvaskyla (1999), Ischia (2001), Prague (2003), Santiago de Compostela (2005), Graz (2007), Uppsala (2009), Leicester (2011) and Lausanne (2013). This book presents a selection of invited and contributed lectures from the ENUMATH 2015 conference, which was organised by the Institute of Applied Mathematics (IAM), Middle East Technical University, Ankara, Turkey, from September 14 to 18, 2015. It offers an overview of central recent developments in numerical analysis, computational mathematics, and applications in the form of contributions by leading experts in the field.

  15. 17th European Conference on Mathematics for Industry

    CERN Document Server

    Günther, Michael; Marheineke, Nicole

    2014-01-01

    This book contains the proceedings of the 17th European Conference on Mathematics for Industry, ECMI2012, held in Lund, Sweden, July 2012, at which ECMI celebrated its 25th anniversary. It covers mathematics in a wide range of applications and methods, from circuit and electromagnetic devices, environment, fibers, flow, medicine, robotics and automotive industry, further applications to methods and education. The book includes contributions from leading figures in business, science and academia who promote the application of mathematics to industry and emphasize industrial sectors that offer the most exciting opportunities. The contributions reinforce the role of mathematics as being a catalyst for innovation as well as an overarching resource for industry and business. The book features an accessible presentation of real-world problems in industry and finance, provides insight and tools for engineers and scientists which will help them to solve similar problems, and offers modeling and simulation techniques ...

  16. An operator semigroup in mathematical genetics

    CERN Document Server

    Bobrowski, Adam

    2015-01-01

    This authored monograph presents a mathematical description of the time evolution of neutral genomic regions in terms of the differential Lyapunov equation. The qualitative behavior of its solutions, with respect to different mutation models and demographic patterns, can be characterized using operator semi group theory. Mutation and drift are two of the main genetic forces, which act on genes of individuals in populations. Their effects are influenced by population dynamics. This book covers the application to two mutation models: single step mutation for microsatellite loci and single-base substitutions. The effects of demographic change to the asymptotic of the distribution are also covered. The target audience primarily covers researchers and experts in the field but the book may also be beneficial for graduate students.

  17. Genetic diversity of eleven European pig breeds.

    Science.gov (United States)

    Laval, G; Iannuccelli, N; Legault, C; Milan, D; Groenen, M A; Giuffra, E; Andersson, L; Nissen, P H; Jørgensen, C B; Beeckmann, P; Geldermann, H; Foulley, J L; Chevalet, C; Ollivier, L

    2000-01-01

    A set of eleven pig breeds originating from six European countries, and including a small sample of wild pigs, was chosen for this study of genetic diversity. Diversity was evaluated on the basis of 18 microsatellite markers typed over a total of 483 DNA samples collected. Average breed heterozygosity varied from 0.35 to 0.60. Genotypic frequencies generally agreed with Hardy-Weinberg expectations, apart from the German Landrace and Schwäbisch-Hällisches breeds, which showed significantly reduced heterozygosity. Breed differentiation was significant as shown by the high among-breed fixation index (overall F(ST)= 0.27), and confirmed by the clustering based on the genetic distances between individuals, which grouped essentially all individuals in 11 clusters corresponding to the 11 breeds. The genetic distances between breeds were first used to construct phylogenetic trees. The trees indicated that a genetic drift model might explain the divergence of the two German breeds, but no reliable phylogeny could be inferred among the remaining breeds. The same distances were also used to measure the global diversity of the set of breeds considered, and to evaluate the marginal loss of diversity attached to each breed. In that respect, the French Basque breed appeared to be the most "unique" in the set considered. This study, which remains to be extended to a larger set of European breeds, indicates that using genetic distances between breeds of farm animals in a classical taxonomic approach may not give clear resolution, but points to their usefulness in a prospective evaluation of diversity.

  18. Genetic diversity of eleven European pig breeds

    Directory of Open Access Journals (Sweden)

    Foulley Jean-Louis

    2000-03-01

    Full Text Available Abstract A set of eleven pig breeds originating from six European countries, and including a small sample of wild pigs, was chosen for this study of genetic diversity. Diversity was evaluated on the basis of 18 microsatellite markers typed over a total of 483 DNA samples collected. Average breed heterozygosity varied from 0.35 to 0.60. Genotypic frequencies generally agreed with Hardy-Weinberg expectations, apart from the German Landrace and Schwäbisch-Hällisches breeds, which showed significantly reduced heterozygosity. Breed differentiation was significant as shown by the high among-breed fixation index (overall FST = 0.27, and confirmed by the clustering based on the genetic distances between individuals, which grouped essentially all individuals in 11 clusters corresponding to the 11 breeds. The genetic distances between breeds were first used to construct phylogenetic trees. The trees indicated that a genetic drift model might explain the divergence of the two German breeds, but no reliable phylogeny could be inferred among the remaining breeds. The same distances were also used to measure the global diversity of the set of breeds considered, and to evaluate the marginal loss of diversity attached to each breed. In that respect, the French Basque breed appeared to be the most "unique" in the set considered. This study, which remains to be extended to a larger set of European breeds, indicates that using genetic distances between breeds of farm animals in a classical taxonomic approach may not give clear resolution, but points to their usefulness in a prospective evaluation of diversity.

  19. Regulation of Genetically Modified Organisms in the European Union

    NARCIS (Netherlands)

    Grossman, M.R.; Bryan Endres, A.

    2000-01-01

    To be successful, laws that regulate genetically modified organisms (GMOs) must help society decide rationally when to pause and when to proceed in adopting new biotechnological developments. In the context of European Union (EU) institutions and lawmaking procedures, this article examines European

  20. Proceedings of the seventh EWM meeting, European Women in Mathematics

    DEFF Research Database (Denmark)

    The proceedings consist of a part concerning EWM and a mathematical part of mainly four series of papers. The series are within the following themes: Holomorphic Dynamics, Algebraic Geometry, Mathematical Physics and Moduli Spaces.......The proceedings consist of a part concerning EWM and a mathematical part of mainly four series of papers. The series are within the following themes: Holomorphic Dynamics, Algebraic Geometry, Mathematical Physics and Moduli Spaces....

  1. 13th European Conference on Mathematics for Industry

    CERN Document Server

    Mattheij, RMM; Peletier, MA

    2006-01-01

    ECMI has a brand name in Industrial Mathematics and organises successful biannual conferences. This time, the conference on Industrial Mathematics held in Eindhoven in June 2004 Mathematics focused on Aerospace, Electronic Industry, Chemical Technology, Life Sciences, Materials, Geophysics, Financial Mathematics and Water flow. The majority of the invited talks on these topics can be found in these proceedings. Apart form these lectures, a large number of contributed papers and minisymposium papers are included here. They give an interesting and impressive overview of the important place mathematics has achieved in solving all kinds of problems met in industry, and commerce in particular.

  2. PISA mathematics and reading performance differences of mainstream European and Turkish immigrant students

    NARCIS (Netherlands)

    Arikan, Serkan; van de Vijver, Fons; Yagmur, Kutlay

    2017-01-01

    Abstract Lower reading and mathematics performance of Turkish immigrant students as compared to mainstream European students could reflect differential learning outcomes, differential socioeconomic backgrounds of the groups, differential mainstream language proficiency, and/or test bias. Using PISA

  3. PISA mathematics and reading performance differences of mainstream European and Turkish immigrant students

    NARCIS (Netherlands)

    Arikan, Serkan; van de Vijver, Fons J. R.; Yagmur, Kutlay

    Lower reading and mathematics performance of Turkish immigrant students as compared to mainstream European students could reflect differential learning outcomes, differential socioeconomic backgrounds of the groups, differential mainstream language proficiency, and/or test bias. Using PISA reading

  4. A profile of the genetic counsellor and genetic nurse profession in European countries.

    Science.gov (United States)

    Cordier, Cristophe; Lambert, Debby; Voelckel, Marie-Antoinette; Hosterey-Ugander, Ulrika; Skirton, Heather

    2012-01-01

    Quality genetic healthcare services should be available throughout Europe. However, due to enhanced diagnostic and genetic testing options, the pressure on genetic counselling services has increased. It has been shown in many countries that appropriately trained genetic counsellors and genetic nurses can offer clinical care for patients seeking information or testing for a wide range of genetic conditions. The European Society of Human Genetics is setting up a system of accreditation for genetic counsellors, to ensure safe practice, however there has been little information about the practice and education of non-medical genetic counsellors in Europe. To collect baseline data, we approached key informants (leaders in national genetics organisations or experienced practitioners) to complete an online survey, reporting on the situation in their own country. Twenty-nine practitioners responded, providing data from 18 countries. The findings indicate huge variation in genetic counsellor numbers, roles, and education across Europe. For example, in UK and The Netherlands, there are more than four counsellors per million population, while in Germany, Hungary, Turkey, and Czech Republic, there are no non-medical counsellors. There are specific educational programmes for genetic counsellors in seven countries, but only France has a specific governing legal framework for genetic counsellors. In the post-genomic era, with added pressure on health systems due to increases in availability and use of genetic testing, these disparities are likely to result in inequalities in service provided to European citizens. This study underpins the need for a coherent European approach to accreditation of genetic counsellors.

  5. European registration process for Clinical Laboratory Geneticists in genetic healthcare.

    Science.gov (United States)

    Liehr, Thomas; Carreira, Isabel M; Aktas, Dilek; Bakker, Egbert; Rodríguez de Alba, Marta; Coviello, Domenico A; Florentin, Lina; Scheffer, Hans; Rincic, Martina

    2017-05-01

    Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these developments. To guarantee and improve the quality of genetic testing, a unified European-based registration for individuals qualified in biomedicine was realized. Therefore a Europe-wide recognition of the profession 'European registered Clinical Laboratory Geneticist (ErCLG)' based on a syllabus of core competences was established which allows for harmonization in professional education. The 'European Board of Medical Genetics division - Clinical Laboratory Geneticist' provides now since 3 years the possibility to register as an ErCLG. Applicants may be from all European countries and since this year also from outside of Europe. Five subtitles reflect the exact specialty of each ErCLG, who can reregister every 5 years. A previously not possible statistics based on ~300 individuals from 19 countries as holders of an ErCLG title provides interesting insights into the professionals working in human genetics. It could be substantiated that there are around twice as many females than males and that a PhD title was achieved by 80% of registered ErCLGs. Also most ErCLGs are still trained as generalists (66%), followed by such ErCLGs with focus on molecular genetics (23%); the remaining are concentrated either on clinical (6%), tumor (4%) or biochemical genetics (1%). In conclusion, besides MDs and genetic counselors/nurses an EU-wide recognition system for Clinical Laboratory Geneticist has been established, which strengthens the status of specialists working in human genetic diagnostics in Europe and worldwide.

  6. Genetic Ancestry of Rapanui before and after European Contact.

    Science.gov (United States)

    Fehren-Schmitz, Lars; Jarman, Catrine L; Harkins, Kelly M; Kayser, Manfred; Popp, Brian N; Skoglund, Pontus

    2017-10-23

    The origins and lifeways of the inhabitants of Rapa Nui (Easter Island), a remote island in the southeast Pacific Ocean, have been debated for generations. Archaeological evidence substantiates the widely accepted view that the island was first settled by people of Polynesian origin, as late as 1200 CE [1-4]. What remains controversial, however, is the nature of events in the island's population history prior to the first historic contact with Europeans in 1722 CE. Purported contact between Rapa Nui and South America is particularly contentious, and recent studies have reported genetic evidence for Native American admixture in present-day indigenous inhabitants of Rapa Nui [5-8]. Statistical modeling has suggested that this genetic contribution might have occurred prior to European contact [6]. Here we directly test the hypothesis that the Native American admixture of the current Rapa Nui population predates the arrival of Europeans with a paleogenomic analysis of five individual samples excavated from Ahu Nau Nau, Anakena, dating to pre- and post-European contact, respectively. Complete mitochondrial genomes and low-coverage autosomal genomes show that the analyzed individuals fall within the genetic diversity of present-day and ancient Polynesians, and we can reject the hypothesis that any of these individuals had substantial Native American ancestry. Our data thus suggest that the Native American ancestry in contemporary Easter Islanders was not present on the island prior to European contact and may thus be due to events in more recent history. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Legal constraints on genetic data processing in European grids

    NARCIS (Netherlands)

    Mouw, Evert; van't Noordende, Guido; van Kampen, Antoine H. C.; Louter, Baas; Santcroos, Mark; Olabarriaga, Silvia D.

    2012-01-01

    European laws on privacy and data security are not explicit about the storage and processing of genetic data. Especially whole-genome data is identifying and contains a lot of personal information. Is processing of such data allowed in computing grids? To find out, we looked at legal precedents in

  8. Definitions of genetic testing in European legal documents.

    Science.gov (United States)

    Varga, Orsolya; Soini, Sirpa; Kääriäinen, Helena; Cassiman, Jean-Jacques; Nippert, Irmgard; Rogowski, Wolf; Nys, Herman; Kristoffersson, Ulf; Schmidtke, Jörg; Sequeiros, Jorge

    2012-04-01

    The definition of "genetic testing" is not a simple matter, and the term is often used with different meanings. The purpose of this work was the collection and analysis of European (and other) legislation and policy instruments regarding genetic testing, to scrutinise the definitions of genetic testing therewith contained the following: 60 legal documents were identified and examined-55 national and five international ones. Documents were analysed for the type (context) of testing and the material tested and compared by legal fields (privacy and confidentiality, data protection, biobanks, insurance and labour law, forensic medicine); some instruments are very complex and deal with various legal fields at the same time. There was no standard for the definitions used, and different approaches were identified (from wide general, to some very specific and technically based). Often, legal documents did not contain any definitions, and many did not distinguish between genetic testing and genetic information. Genetic testing was more often defined in non-binding legal documents than in binding ones. Definitions are core elements of legal documents, and their accuracy and harmonisation (particularly within a particular legal field) is critical, not to compromise their enforcement. We believe to have gathered now the evidence for adopting the much needed differentiation between (a) "clinical genetics testing", (b) "genetics laboratory-based genetic testing" and (c) "genetic information", as proposed before.

  9. Mathematical Fundamentals for the Noise Immunity of the Genetic Code.

    Science.gov (United States)

    Fimmel, Elena; Strüngmann, Lutz

    2017-09-13

    Symmetry is one of the essential and most visible patterns that can be seen in nature. Starting from the left-right symmetry of the human body, all types of symmetry can be found in crystals, plants, animals and nature as a whole. Similarly, principals of symmetry are also some of the fundamental and most useful tools in modern mathematical natural science that play a major role in theory and applications. As a consequence, it is not surprising that the desire to understand the origin of life, based on the genetic code, forces us to involve symmetry as a mathematical concept. The genetic code can be seen as a key to biological self-organisation. All living organisms have the same molecular bases - an alphabet consisting of four letters (nitrogenous bases): adenine, cytosine, guanine, and thymine. Linearly ordered sequences of these bases contain the genetic information for synthesis of proteins in all forms of life. Thus, one of the most fascinating riddles of nature is to explain why the genetic code is as it is. Genetic coding possesses noise immunity which is the fundamental feature that allows to pass on the genetic information from parents to their descendants. Hence, since the time of the discovery of the genetic code, scientists have tried to explain the noise immunity of the genetic information. In this chapter we will discuss recent results in mathematical modelling of the genetic code with respect to noise immunity, in particular error-detection and error-correction. We will focus on two central properties: Degeneracy and frameshift correction. Different amino acids are encoded by different quantities of codons and a connection between this degeneracy and the noise immunity of genetic information is a long standing hypothesis. Biological implications of the degeneracy have been intensively studied and whether the natural code is a frozen accident or a highly optimised product of evolution is still controversially discussed. Symmetries in the structure of

  10. CSP - The 19th European Conference on Mathematics for Industry (ECMI 2016)

    Science.gov (United States)

    2017-03-02

    of daily life. Due to our dependence on fuel sources and our large demand for energy , power systems have become interdependent networks rather than...shorten development times, reduce global energy demand and minimize environmental impact. • The work of European scientists was coordinated to...FINAL TECHNICAL REPORT CSP- The 19th European Conference on Mathematics for Industry (ECM I 2016) Grant number: N62909-16-1-2072 Registered

  11. The Crest of the Peacock Non-European Roots of Mathematics (Third Edition)

    CERN Document Server

    Joseph, George Gheverghese

    2011-01-01

    From the Ishango Bone of central Africa and the Inca quipu of South America to the dawn of modern mathematics, The Crest of the Peacock makes it clear that human beings everywhere have been capable of advanced and innovative mathematical thinking. George Gheverghese Joseph takes us on a breathtaking multicultural tour of the roots and shoots of non-European mathematics. He shows us the deep influence that the Egyptians and Babylonians had on the Greeks, the Arabs' major creative contributions, and the astounding range of successes of the great civilizations of India and China. The third editio

  12. The European mathematical awakening a journey through the history of mathematics from 1000 to 1800

    CERN Document Server

    Swetz, Frank J

    2013-01-01

    A global survey of the history of mathematics, this collection of 32 articles traces the subject from AD 1000 to 1800. Newly corrected and updated essays introduce fascinating studies by Fibonacci, Descartes, Cardano, Galileo, Pascal, Newton, others.

  13. Who’s Afraid of Math? Two Sources of Genetic Variance for Mathematical Anxiety

    Science.gov (United States)

    Wang, Zhe; Hart, Sara Ann; Kovas, Yulia; Lukowski, Sarah; Soden, Brooke; Thompson, Lee A.; Plomin, Robert; McLoughlin, Grainne; Bartlett, Christopher W.; Lyons, Ian M.; Petrill, Stephen A.

    2015-01-01

    Background Emerging work suggests that academic achievement may be influenced by the management of affect as well as through efficient information processing of task demands. In particular, mathematical anxiety has attracted recent attention because of its damaging psychological effects and potential associations with mathematical problem-solving and achievement. The present study investigated the genetic and environmental factors contributing to the observed differences in the anxiety people feel when confronted with mathematical tasks. In addition, the genetic and environmental mechanisms that link mathematical anxiety with math cognition and general anxiety were also explored. Methods Univariate and multivariate quantitative genetic models were conducted in a sample of 514 12-year-old twin siblings. Results Genetic factors accounted for roughly 40% of the variation in mathematical anxiety, with the remaining being accounted for by child-specific environmental factors. Multivariate genetic analyses suggested that mathematical anxiety was influenced by the genetic and non-familial environmental risk factors associated with general anxiety and additional independent genetic influences associated with math-based problem solving. Conclusions The development of mathematical anxiety may involve not only exposure to negative experiences with mathematics, but also likely involves genetic risks related to both anxiety and math cognition. These results suggest that integrating cognitive and affective domains may be particularly important for mathematics, and may extend to other areas of academic achievement. PMID:24611799

  14. Who is afraid of math? Two sources of genetic variance for mathematical anxiety.

    Science.gov (United States)

    Wang, Zhe; Hart, Sara Ann; Kovas, Yulia; Lukowski, Sarah; Soden, Brooke; Thompson, Lee A; Plomin, Robert; McLoughlin, Grainne; Bartlett, Christopher W; Lyons, Ian M; Petrill, Stephen A

    2014-09-01

    Emerging work suggests that academic achievement may be influenced by the management of affect as well as through efficient information processing of task demands. In particular, mathematical anxiety has attracted recent attention because of its damaging psychological effects and potential associations with mathematical problem solving and achievement. This study investigated the genetic and environmental factors contributing to the observed differences in the anxiety people feel when confronted with mathematical tasks. In addition, the genetic and environmental mechanisms that link mathematical anxiety with math cognition and general anxiety were also explored. Univariate and multivariate quantitative genetic models were conducted in a sample of 514 12-year-old twin siblings. Genetic factors accounted for roughly 40% of the variation in mathematical anxiety, with the remaining being accounted for by child-specific environmental factors. Multivariate genetic analyses suggested that mathematical anxiety was influenced by the genetic and nonfamilial environmental risk factors associated with general anxiety and additional independent genetic influences associated with math-based problem solving. The development of mathematical anxiety may involve not only exposure to negative experiences with mathematics, but also likely involves genetic risks related to both anxiety and math cognition. These results suggest that integrating cognitive and affective domains may be particularly important for mathematics and may extend to other areas of academic achievement. © 2014 The Authors. Journal of Child Psychology and Psychiatry. © 2014 Association for Child and Adolescent Mental Health.

  15. Detailed genetic structure of European bitterling populations in Central Europe

    Directory of Open Access Journals (Sweden)

    Veronika Bartáková

    2015-11-01

    Full Text Available The European bitterling (Rhodeus amarus is a small cyprinid fish whose populations declined markedly between 1950 and 1980. However, its range currently expands, partly due to human-assisted introductions. We determined the genetic variability and detailed spatial structure among bitterling populations in Central Europe and tested alternative hypotheses about colonization of this area. Twelve polymorphic microsatellite loci on a large sample of 688 individuals had been used to analyse genetic variability and population structure. Samples originated from 27 localities with emphasis on area of the Czech Republic where three major sea drainages (Black, Baltic, and Northern Sea meet. Highly variable level of intrapopulation genetic variability had generally been detected and a recent decrease in numbers (“bottleneck” had been indicated by genetic data among six populations. High level of interpopulation differentiation was identified even within the basins. There was a significant role of genetic drift and indications of low dispersal ability of R. amarus. Surprisingly, the Odra River was inhabited by two distinct populations without any genetic signatures of a secondary contact. Czech part of the Odra (Baltic basin was colonized from the Danubian refugium (similarly to adjacent Danubian basin rivers including the Morava, while Polish part of the Odra was genetically similar to the populations in the Vistula River (Baltic basin, that has been colonized by a different (Eastern phylogeographic lineage of R. amarus. Most Czech R. amarus populations were colonized from the Danubian refugium, suggesting potential for a human-mediated colonization of the Odra or Elbe Rivers by R. amarus. One Elbe basin population was genetically mixed from the two (Danubian and Eastern phylogeographic lineages. In general the Czech populations of R. amarus were genetically stable except for a single population which has probably been recently introduced. This research

  16. Socioeconomic related inequalities in students' mathematics achievement in the European Union

    OpenAIRE

    Lurdes Martins; Paula Veiga

    2008-01-01

    This paper examines the degree of socioeconomic related inequalities in mathematics achievement for students from the European Union and presents some possible sources for the exhibited differences between countries. We applied a methodology which has been used in health economics literature namely by Wagstaff et al. (1991) and Kakwani et al. (1997). We selected parental highest level of education as a proxy for students’ socioeconomic background. Results confirm a significant inequality in a...

  17. Mathematical Modeling of Intestinal Iron Absorption Using Genetic Programming.

    Science.gov (United States)

    Colins, Andrea; Gerdtzen, Ziomara P; Nuñez, Marco T; Salgado, J Cristian

    2017-01-01

    Iron is a trace metal, key for the development of living organisms. Its absorption process is complex and highly regulated at the transcriptional, translational and systemic levels. Recently, the internalization of the DMT1 transporter has been proposed as an additional regulatory mechanism at the intestinal level, associated to the mucosal block phenomenon. The short-term effect of iron exposure in apical uptake and initial absorption rates was studied in Caco-2 cells at different apical iron concentrations, using both an experimental approach and a mathematical modeling framework. This is the first report of short-term studies for this system. A non-linear behavior in the apical uptake dynamics was observed, which does not follow the classic saturation dynamics of traditional biochemical models. We propose a method for developing mathematical models for complex systems, based on a genetic programming algorithm. The algorithm is aimed at obtaining models with a high predictive capacity, and considers an additional parameter fitting stage and an additional Jackknife stage for estimating the generalization error. We developed a model for the iron uptake system with a higher predictive capacity than classic biochemical models. This was observed both with the apical uptake dataset used for generating the model and with an independent initial rates dataset used to test the predictive capacity of the model. The model obtained is a function of time and the initial apical iron concentration, with a linear component that captures the global tendency of the system, and a non-linear component that can be associated to the movement of DMT1 transporters. The model presented in this paper allows the detailed analysis, interpretation of experimental data, and identification of key relevant components for this complex biological process. This general method holds great potential for application to the elucidation of biological mechanisms and their key components in other complex

  18. Genetic comparison of a Croatian isolate and CEPH European founders.

    Science.gov (United States)

    Navarro, Pau; Vitart, Véronique; Hayward, Caroline; Tenesa, Albert; Zgaga, Lina; Juricic, Danica; Polasek, Ozren; Hastie, Nicholas D; Rudan, Igor; Campbell, Harry; Wright, Alan F; Haley, Chris S; Knott, Sara A

    2010-02-01

    Human isolates have been postulated as a good resource for the identification of QTL due to reduced genetic diversity and a more homogeneous environment. Isolates may also have increased linkage disequilibrium (LD) due to small effective population size and, either loss or increase in frequency of alleles that are rare in the general population from which they originate. Here we investigate the difference in allele and genotype frequencies, LD and homozygous tracts between an isolate-several villages from the island of Vis in Croatia-and an outbred population of European origin: the Hapmap CEPH founders. Using the HumanHap300 v1 Genotyping BeadChip, we show that our population does not differ greatly from the reference CEU outbred population despite having a slightly higher proportion of monomorphic loci, a slightly higher long-range LD, and a greater proportion of individuals with long homozygous tracts. We conclude that genotyping arrays should perform equally well in our isolate as in outbred European populations for disease mapping studies and that SNP-trait associations discovered in our well-characterized Croatian isolate should be valid in the general European population from which they descend. 2009 Wiley-Liss, Inc.

  19. Genetics in clinical practice: general practitioners' educational priorities in European countries.

    NARCIS (Netherlands)

    Julian-Reynier, C.; Nippert, I.; Calefato, J.M.; Harris, H.J.; Kristoffersson, U.; Schmidtke, J.; Kate, L. ten; Anionwu, E.; Benjamin, C.; Challen, K.; Plass, A.M.; Harris, R.

    2008-01-01

    Purpose: To assess how general practitioners (GPs) from European countries prioritized their genetic educational needs according to their geographic, sociodemographic, and educational characteristics. Methods: Cross-sectional survey, random and total samples of GPs in five European countries

  20. EMANI, ERAM and Other European Activities Contributing to a Global Digital Library in Mathematics.

    Science.gov (United States)

    Wegner, Bernd

    capturing the content of a classical bibliographic service in mathematics in a database, and combining this with the retro-digitisation of selected mathematical publications. This is extended now by further projects which shall try to retro-digitise the national mathematical heritage in several countries world-wide. In particular ideas to cover the Russian publications in a digital repository called RusDLM are investigated at present, and they may contribute to a bigger programme for the Russian Federation, called "Electronic Russia", As further digitisation projects the French activity NUMDAM, pursued by Cellule MathDoc in Grenoble, and the European Cooperation in DIEPER have to be mentioned.

  1. Evidence for shared genetic risk between ADHD symptoms and reduced mathematics ability: a twin study

    Science.gov (United States)

    Greven, Corina U.; Kovas, Yulia; Willcutt, Erik G.; Petrill, Stephen A.; Plomin, Robert

    2013-01-01

    Background Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. Methods Data came from more than 6,000 12-year-old twin pairs from the U.K. population-representative Twins Early Development Study. Parents rated each twin’s behaviour using a DSM-IV-based 18-item questionnaire of inattentive and hyperactive-impulsive ADHD symptoms. Mathematics tests based on the U.K. National Curriculum were completed by each twin. The twins also completed standardised tests of reading and general cognitive ability. Multivariate twin model fitting was applied. Results Inattentive and hyperactive-impulsive ADHD symptoms were highly heritable (67% and 73%, respectively). Mathematics ability was moderately heritable (46%). Mathematics ability and inattentiveness showed a significantly greater phenotypic correlation (rp=−0.26) and genetic correlation (rA=−0.41) than mathematics ability and hyperactivity-impulsivity (rp=−0.18; rA=−0.22). The genetic correlation between inattentiveness and mathematics ability was largely independent from hyperactivity-impulsivity, and was only partially accounted for by genetic influences related to reading and general cognitive ability. Conclusions Results revealed the novel finding that mathematics ability shows significantly stronger phenotypic and genetic associations with inattentiveness than with hyperactivity-impulsivity. Genetic associations between inattentiveness and mathematics ability could only partially be accounted for by hyperactivity-impulsivity, reading and general cognitive ability. Results suggest that mathematics ability is associated with ADHD symptoms largely because it shares genetic risk factors with inattentiveness, and provide further evidence for considering inattentiveness and hyperactivity-impulsivity separately. DNA markers for ADHD symptoms (especially inattentiveness) may also

  2. Evidence for shared genetic risk between ADHD symptoms and reduced mathematics ability: a twin study.

    Science.gov (United States)

    Greven, Corina U; Kovas, Yulia; Willcutt, Erik G; Petrill, Stephen A; Plomin, Robert

    2014-01-01

    Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. Data came from more than 6,000 twelve-year-old twin pairs from the UK population-representative Twins Early Development Study. Parents rated each twin's behaviour using a DSM-IV-based 18-item questionnaire of inattentive and hyperactive-impulsive ADHD symptoms. Mathematics tests based on the UK National Curriculum were completed by each twin. The twins also completed standardised tests of reading and general cognitive ability. Multivariate twin model fitting was applied. Inattentive and hyperactive-impulsive ADHD symptoms were highly heritable (67% and 73% respectively). Mathematics ability was moderately heritable (46%). Mathematics ability and inattentiveness showed a significantly greater phenotypic correlation (r(p) = -.26) and genetic correlation (r(A) = -.41) than mathematics ability and hyperactivity-impulsivity (r(p) = -.18; r(A) = -.22). The genetic correlation between inattentiveness and mathematics ability was largely independent from hyperactivity-impulsivity, and was only partially accounted for by genetic influences related to reading and general cognitive ability. Results revealed the novel finding that mathematics ability shows significantly stronger phenotypic and genetic associations with inattentiveness than with hyperactivity-impulsivity. Genetic associations between inattentiveness and mathematics ability could only partially be accounted for by hyperactivity-impulsivity, reading and general cognitive ability. Results suggest that mathematics ability is associated with ADHD symptoms largely because it shares genetic risk factors with inattentiveness, and provide further evidence for considering inattentiveness and hyperactivity-impulsivity separately. DNA markers for ADHD symptoms (especially inattentiveness) may also be candidate risk factors for

  3. Information Geometry and the Wright-Fisher model of Mathematical Population Genetics

    OpenAIRE

    Tran, Tat Dat

    2012-01-01

    My thesis addresses a systematic approach to stochastic models in population genetics; in particular, the Wright-Fisher models affected only by the random genetic drift. I used various mathematical methods such as Probability, PDE, and Geometry to answer an important question: \\"How do genetic change factors (random genetic drift, selection, mutation, migration, random environment, etc.) affect the behavior of gene frequencies or genotype frequencies in generations?”. In a Hardy-Weinberg ...

  4. Genetic determinants of circulating sphingolipid concentrations in European populations.

    Directory of Open Access Journals (Sweden)

    Andrew A Hicks

    2009-10-01

    Full Text Available Sphingolipids have essential roles as structural components of cell membranes and in cell signalling, and disruption of their metabolism causes several diseases, with diverse neurological, psychiatric, and metabolic consequences. Increasingly, variants within a few of the genes that encode enzymes involved in sphingolipid metabolism are being associated with complex disease phenotypes. Direct experimental evidence supports a role of specific sphingolipid species in several common complex chronic disease processes including atherosclerotic plaque formation, myocardial infarction (MI, cardiomyopathy, pancreatic beta-cell failure, insulin resistance, and type 2 diabetes mellitus. Therefore, sphingolipids represent novel and important intermediate phenotypes for genetic analysis, yet little is known about the major genetic variants that influence their circulating levels in the general population. We performed a genome-wide association study (GWAS between 318,237 single-nucleotide polymorphisms (SNPs and levels of circulating sphingomyelin (SM, dihydrosphingomyelin (Dih-SM, ceramide (Cer, and glucosylceramide (GluCer single lipid species (33 traits; and 43 matched metabolite ratios measured in 4,400 subjects from five diverse European populations. Associated variants (32 in five genomic regions were identified with genome-wide significant corrected p-values ranging down to 9.08x10(-66. The strongest associations were observed in or near 7 genes functionally involved in ceramide biosynthesis and trafficking: SPTLC3, LASS4, SGPP1, ATP10D, and FADS1-3. Variants in 3 loci (ATP10D, FADS3, and SPTLC3 associate with MI in a series of three German MI studies. An additional 70 variants across 23 candidate genes involved in sphingolipid-metabolizing pathways also demonstrate association (p = 10(-4 or less. Circulating concentrations of several key components in sphingolipid metabolism are thus under strong genetic control, and variants in these loci can be

  5. Genetics and Mathematics: Evidence from Prader-Willi Syndrome

    Science.gov (United States)

    Semenza, Carlo; Pignatti, Riccardo; Bertella, Laura; Ceriani, Francesca; Mori, Ileana; Molinari, Enrico; Giardino, Daniela; Malvestiti, Francesca; Grugni, Graziano

    2008-01-01

    Mathematical abilities were tested in people with Prader-Willi syndrome (PWS), using a series of basic mathematical tasks for which normative data are available. The difference between the deletion and the disomy variants of this condition was explored. While a wide phenotypic variation was found, some basic findings emerge clearly. As expected…

  6. Mathematical Disabilities: Reflections on Cognitive, Neuropsychological, and Genetic Components.

    Science.gov (United States)

    Geary, David C

    2010-04-01

    The collection of articles in this special issue and related studies over the past decade provides a fine example of the substantial progress that has been made in our understanding and remediation of mathematical learning disabilities and difficulties since 1993 (Geary, 1993). The originally proposed procedural and retrieval deficits have been supported and a number sense deficit has been identified. There is evidence for visuospatial contributions to some aspects of mathematical learning, but identification of a core visuospatial deficit underlying some forms of mathematics learning disabilities and difficulties has been elusive. The contributions of working memory to the development and expression of these deficits is more nuanced than I originally proposed as are the brain systems supporting mathematical learning. Although much has been learned about children's difficulties in learning mathematics, but there is just as much and likely more than remains to be discovered.

  7. A Genome-Wide Association Study Identifies Genetic Variants Associated with Mathematics Ability.

    Science.gov (United States)

    Chen, Huan; Gu, Xiao-Hong; Zhou, Yuxi; Ge, Zeng; Wang, Bin; Siok, Wai Ting; Wang, Guoqing; Huen, Michael; Jiang, Yuyang; Tan, Li-Hai; Sun, Yimin

    2017-02-03

    Mathematics ability is a complex cognitive trait with polygenic heritability. Genome-wide association study (GWAS) has been an effective approach to investigate genetic components underlying mathematic ability. Although previous studies reported several candidate genetic variants, none of them exceeded genome-wide significant threshold in general populations. Herein, we performed GWAS in Chinese elementary school students to identify potential genetic variants associated with mathematics ability. The discovery stage included 494 and 504 individuals from two independent cohorts respectively. The replication stage included another cohort of 599 individuals. In total, 28 of 81 candidate SNPs that met validation criteria were further replicated. Combined meta-analysis of three cohorts identified four SNPs (rs1012694, rs11743006, rs17778739 and rs17777541) of SPOCK1 gene showing association with mathematics ability (minimum p value 5.67 × 10(-10), maximum β -2.43). The SPOCK1 gene is located on chromosome 5q31.2 and encodes a highly conserved glycoprotein testican-1 which was associated with tumor progression and prognosis as well as neurogenesis. This is the first study to report genome-wide significant association of individual SNPs with mathematics ability in general populations. Our preliminary results further supported the role of SPOCK1 during neurodevelopment. The genetic complexities underlying mathematics ability might contribute to explain the basis of human cognition and intelligence at genetic level.

  8. Employing Genetic "Moments" in the History of Mathematics in Classroom Activities

    Science.gov (United States)

    Farmaki, Vassiliki; Paschos, Theodorus

    2007-01-01

    The integration of history into educational practice can lead to the development of activities through the use of genetic "moments" in the history of mathematics. In the present paper, we utilize Oresme's genetic ideas--developed during the fourteenth century, including ideas on the velocity-time graphical representation as well as geometric…

  9. Individual Differences in Mathematical Ability: Genetic, Cognitive and Behavioural Factors

    Science.gov (United States)

    Adams, John W.

    2007-01-01

    Identifying individuals with mathematical difficulties (MD) is becoming increasingly important in our education system. However, recognising MD is only the first stage in the provision of special educational needs (SEN). Although planning the effective remedial support is vital, there is little consensus on the interventions that are appropriate.…

  10. European Population Genetic Substructure: Further Definition of Ancestry Informative Markers for Distinguishing Among Diverse European Ethnic Groups

    Science.gov (United States)

    Tian, Chao; Kosoy, Roman; Nassir, Rami; Lee, Annette; Villoslada, Pablo; Klareskog, Lars; Hammarström, Lennart; Garchon, Henri-Jean; Pulver, Ann E.; Ransom, Michael; Gregersen, Peter K.; Seldin, Michael F.

    2009-01-01

    The definition of European population genetic substructure and its application to understanding complex phenotypes is becoming increasingly important. In the current study using over 4000 subjects genotyped for 300 thousand SNPs we provide further insight into relationships among European population groups and identify sets of SNP ancestry informative markers (AIMs) for application in genetic studies. In general, the graphical description of these principal components analyses (PCA) of diverse European subjects showed a strong correspondence to the geographical relationships of specific countries or regions of origin. Clearer separation of different ethnic and regional populations was observed when northern and southern European groups were considered separately and the PCA results were influenced by the inclusion or exclusion of different self-identified population groups including Ashkenazi Jewish, Sardinian and Orcadian ethnic groups. SNP AIM sets were identified that could distinguish the regional and ethnic population groups. Moreover, the studies demonstrated that most allele frequency differences between different European groups could be effectively controlled in analyses using these AIM sets. The European substructure AIMs should be widely applicable to ongoing studies to confirm and delineate specific disease susceptibility candidate regions without the necessity to perform additional genome-wide SNP studies in additional subject sets. PMID:19707526

  11. European population genetic substructure: further definition of ancestry informative markers for distinguishing among diverse European ethnic groups.

    Science.gov (United States)

    Tian, Chao; Kosoy, Roman; Nassir, Rami; Lee, Annette; Villoslada, Pablo; Klareskog, Lars; Hammarström, Lennart; Garchon, Henri-Jean; Pulver, Ann E; Ransom, Michael; Gregersen, Peter K; Seldin, Michael F

    2009-01-01

    The definition of European population genetic substructure and its application to understanding complex phenotypes is becoming increasingly important. In the current study using over 4,000 subjects genotyped for 300,000 single-nucleotide polymorphisms (SNPs), we provide further insight into relationships among European population groups and identify sets of SNP ancestry informative markers (AIMs) for application in genetic studies. In general, the graphical description of these principal components analyses (PCA) of diverse European subjects showed a strong correspondence to the geographical relationships of specific countries or regions of origin. Clearer separation of different ethnic and regional populations was observed when northern and southern European groups were considered separately and the PCA results were influenced by the inclusion or exclusion of different self-identified population groups including Ashkenazi Jewish, Sardinian, and Orcadian ethnic groups. SNP AIM sets were identified that could distinguish the regional and ethnic population groups. Moreover, the studies demonstrated that most allele frequency differences between different European groups could be controlled effectively in analyses using these AIM sets. The European substructure AIMs should be widely applicable to ongoing studies to confirm and delineate specific disease susceptibility candidate regions without the necessity of performing additional genome-wide SNP studies in additional subject sets.

  12. Mathematics is differentially related to reading comprehension and word decoding: Evidence from a genetically-sensitive design

    Science.gov (United States)

    Harlaar, Nicole; Kovas, Yulia; Dale, Philip S.; Petrill, Stephen A.; Plomin, Robert

    2013-01-01

    Although evidence suggests that individual differences in reading and mathematics skills are correlated, this relationship has typically only been studied in relation to word decoding or global measures of reading. It is unclear whether mathematics is differentially related to word decoding and reading comprehension. The current study examined these relationships at both a phenotypic and etiological level in a population-based cohort of 5162 twin pairs at age 12. Multivariate genetic analyses of latent phenotypic factors of mathematics, word decoding and reading comprehension revealed substantial genetic and shared environmental correlations among all three domains. However, the phenotypic and genetic correlations between mathematics and reading comprehension were significantly greater than between mathematics and word decoding. Independent of mathematics, there was also evidence for genetic and nonshared environmental links between word decoding and reading comprehension. These findings indicate that word decoding and reading comprehension have partly distinct relationships with mathematics in the middle school years. PMID:24319294

  13. Genetic parameters and genetic trends in the Chinese × European Tiameslan composite pig line. I. Genetic parameters

    Directory of Open Access Journals (Sweden)

    Legault Christian

    2000-01-01

    Full Text Available Abstract Genetic parameters of body weight at 4 (W4 w, 8 (W8 w and 22 (W22 w weeks of age, days from 20 to 100 kg (DT, average backfat thickness at 100 kg (ABT, teat number (TEAT, number of good teats (GTEAT, total number of piglets born (TNB, born alive (NBA and weaned (NW per litter, and birth to weaning survival rate (SURV were estimated in the Chinese × European Tiameslan composite line using restricted maximum likelihood methodology applied to a multiple trait animal model. Performance data from a total of 4 881 males and 4 799 females from 1 341 litters were analysed. Different models were fitted to the data in order to estimate the importance of maternal effects on production traits, as well as genetic correlations between male and female performance. The results showed the existence of significant maternal effects on W4w, W8w and ABT and of variance heterogeneity between sexes for W22w, DT, ABT and GTEAT. Genetic correlations between sexes were 0.79, 0.71 and 0.82, respectively, for W22w, DT and ABT and above 0.90 for the other traits. Heritability estimates were larger than (ABT and TEAT or similar to (other traits average literature values. Some genetic antagonism was evidenced between production traits, particularly W4w, W8w and ABT, and reproductive traits.

  14. Some mathematical refinements concerning error minimization in the genetic code

    NARCIS (Netherlands)

    Buhrman, H.; van der Gulik, P.; Kelk, S.M.; Koolen, W.M.; Stougie, L.

    2011-01-01

    The genetic code is known to have a high level of error robustness and has been shown to be very error robust compared to randomly selected codes, but to be significantly less error robust than a certain code found by a heuristic algorithm. We formulate this optimization problem as a Quadratic

  15. Teaching Applied Genetics and Molecular Biology to Agriculture Engineers. Application of the European Credit Transfer System

    Science.gov (United States)

    Weiss, J.; Egea-Cortines, M.

    2008-01-01

    We have been teaching applied molecular genetics to engineers and adapted the teaching methodology to the European Credit Transfer System. We teach core principles of genetics that are universal and form the conceptual basis of most molecular technologies. The course then teaches widely used techniques and finally shows how different techniques…

  16. EUFORGEN as an instrument for the conservation of European forest genetic resources

    NARCIS (Netherlands)

    Vries, de S.M.G.

    2006-01-01

    Following the Ministerial Conference for the Protection of Forest in Europe, held in Strasbourg in 1990, and more specifically its Resolution No. 2 concerning the conservation of forest genetic resources EUFORGEN (European Forest Genetic Resources Programme) was established. EUFORGEN is a

  17. Evidence for shared genetic risk between ADHD symptoms and reduced mathematics ability: a twin study

    NARCIS (Netherlands)

    Greven, C.U.; Kovas, Y.; Willcutt, E.G.; Petrill, S.A.; Plomin, R.

    2014-01-01

    BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. METHODS: Data came from more than 6,000 twelve-year-old twin pairs from the UK

  18. Evidence for Shared Genetic Risk between ADHD Symptoms and Reduced Mathematics Ability: A Twin Study

    Science.gov (United States)

    Greven, Corina U.; Kovas, Yulia; Willcutt, Erik G.; Petrill, Stephen A.; Plomin, Robert

    2013-01-01

    Background: Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. Methods: Data came from more than 6,000 twelve-year-old twin pairs from the UK population-representative Twins Early Development Study. Parents…

  19. Patterns of genetic variation in the endangered European mink (Mustela lutreola L., 1761).

    Science.gov (United States)

    Cabria, Maria Teresa; Gonzalez, Elena G; Gomez-Moliner, Benjamin J; Michaux, Johan R; Skumatov, Dimitry; Kranz, Andreas; Fournier, Pascal; Palazon, Santiago; Zardoya, Rafael

    2015-07-17

    The European mink (Mustela lutreola, L. 1761) is a critically endangered mustelid, which inhabits several main river drainages in Europe. Here, we assess the genetic variation of existing populations of this species, including new sampling sites and additional molecular markers (newly developed microsatellite loci specific to European mink) as compared to previous studies. Probabilistic analyses were used to examine genetic structure within and between existing populations, and to infer phylogeographic processes and past demography. According to both mitochondrial and nuclear microsatellite markers, Northeastern (Russia, Estonia and Belarus) and Southeastern (Romania) European populations showed the highest intraspecific diversity. In contrast, Western European (France and Spain) populations were the least polymorphic, featuring a unique mitochondrial DNA haplotype. The high differentiation values detected between Eastern and Western European populations could be the result of genetic drift in the latter due to population isolation and reduction. Genetic differences among populations were further supported by Bayesian clustering and two main groups were confirmed (Eastern vs. Western Europe) along with two contained subgroups at a more local scale (Northeastern vs. Southeastern Europe; France vs. Spain). Genetic data and performed analyses support a historical scenario of stable European mink populations, not affected by Quaternary climate oscillations in the Late Pleistocene, and posterior expansion events following river connections in both North- and Southeastern European populations. This suggests an eastern refuge during glacial maxima (as already proposed for boreal and continental species). In contrast, Western Europe was colonised more recently following either natural expansions or putative human introductions. Low levels of genetic diversity observed within each studied population suggest recent bottleneck events and stress the urgent need for

  20. A Delphi study to determine the European core curriculum for Master programmes in genetic counselling

    OpenAIRE

    Skirton, H; Barnoy, S; Ingvoldstad, C.; van Kessel, I; Patch, C; O'connor, A; Serra-Juhe, C; Stayner, B; Voelckel, M-A

    2013-01-01

    Genetic counsellors have been working in some European countries for at least 30 years. Although there are great disparities between the numbers, education, practice and acceptance of these professionals across Europe, it is evident that genetic counsellors and genetic nurses in Europe are working autonomously within teams to deliver patient care. The aim of this study was to use the Delphi research method to develop a core curriculum to guide the educational preparation of these professional...

  1. Behavioural genetic differences between Chinese and European pigs

    Indian Academy of Sciences (India)

    Aggression is a heritable trait and genetically related to neurotransmitter-related genes. Behavioural characteristics of some pig breeds are different. To compare the genetic differences between breeds, backtest and aggressive behaviour assessments, and genotyped using Sequenom iPLEX platform were performed in 50 ...

  2. Ecological factors influence population genetic structure of European grey wolves.

    Science.gov (United States)

    Pilot, Malgorzata; Jedrzejewski, Wlodzimierz; Branicki, Wojciech; Sidorovich, Vadim E; Jedrzejewska, Bogumila; Stachura, Krystyna; Funk, Stephan M

    2006-12-01

    Although the mechanisms controlling gene flow among populations are particularly important for evolutionary processes, they are still poorly understood, especially in the case of large carnivoran mammals with extensive continuous distributions. We studied the question of factors affecting population genetic structure in the grey wolf, Canis lupus, one of the most mobile terrestrial carnivores. We analysed variability in mitochondrial DNA and 14 microsatellite loci for a sample of 643 individuals from 59 localities representing most of the continuous wolf range in Eastern Europe. We tested an array of geographical, historical and ecological factors to check whether they may explain genetic differentiation among local wolf populations. We showed that wolf populations in Eastern Europe displayed nonrandom spatial genetic structure in the absence of obvious physical barriers to movement. Neither topographic barriers nor past fragmentation could explain spatial genetic structure. However, we found that the genetic differentiation among local populations was correlated with climate, habitat types, and wolf diet composition. This result shows that ecological processes may strongly influence the amount of gene flow among populations. We suggest natal-habitat-biased dispersal as an underlying mechanism linking population ecology with population genetic structure.

  3. Analysis and application of European genetic substructure using 300 K SNP information.

    Directory of Open Access Journals (Sweden)

    Chao Tian

    2008-01-01

    Full Text Available European population genetic substructure was examined in a diverse set of >1,000 individuals of European descent, each genotyped with >300 K SNPs. Both STRUCTURE and principal component analyses (PCA showed the largest division/principal component (PC differentiated northern from southern European ancestry. A second PC further separated Italian, Spanish, and Greek individuals from those of Ashkenazi Jewish ancestry as well as distinguishing among northern European populations. In separate analyses of northern European participants other substructure relationships were discerned showing a west to east gradient. Application of this substructure information was critical in examining a real dataset in whole genome association (WGA analyses for rheumatoid arthritis in European Americans to reduce false positive signals. In addition, two sets of European substructure ancestry informative markers (ESAIMs were identified that provide substantial substructure information. The results provide further insight into European population genetic substructure and show that this information can be used for improving error rates in association testing of candidate genes and in replication studies of WGA scans.

  4. Genetic testing in the European Union: does economic evaluation matter?

    Science.gov (United States)

    Antoñanzas, Fernando; Rodríguez-Ibeas, R; Hutter, M F; Lorente, R; Juárez, C; Pinillos, M

    2012-10-01

    We review the published economic evaluation studies applied to genetic technologies in the EU to know the main diseases addressed by these studies, the ways the studies were conducted and to assess the efficiency of these new technologies. The final aim of this review was to understand the possibilities of the economic evaluations performed up to date as a tool to contribute to decision making in this area. We have reviewed a set of articles found in several databases until March 2010. Literature searches were made in the following databases: PubMed; Euronheed; Centre for Reviews and Dissemination of the University of York-Health Technology Assessment, Database of Abstracts of Reviews of Effects, NHS Economic Evaluation Database; and Scopus. The algorithm was "(screening or diagnosis) and genetic and (cost or economic) and (country EU27)". We included studies if they met the following criteria: (1) a genetic technology was analysed; (2) human DNA must be tested for; (3) the analysis was a real economic evaluation or a cost study, and (4) the articles had to be related to any EU Member State. We initially found 3,559 papers on genetic testing but only 92 articles of economic analysis referred to a wide range of genetic diseases matched the inclusion criteria. The most studied diseases were as follows: cystic fibrosis (12), breast and ovarian cancer (8), hereditary hemochromatosis (6), Down's syndrome (7), colorectal cancer (5), familial hypercholesterolaemia (5), prostate cancer (4), and thrombophilia (4). Genetic tests were mostly used for screening purposes, and cost-effectiveness analysis is the most common type of economic study. The analysed gene technologies are deemed to be efficient for some specific population groups and screening algorithms according to the values of their cost-effectiveness ratios that were below the commonly accepted threshold of 30,000€. Economic evaluation of genetic technologies matters but the number of published studies is still

  5. Behavioural genetic differences between Chinese and European pigs

    Indian Academy of Sciences (India)

    QINGPO CHU

    2017-09-13

    Sep 13, 2017 ... Also, there are quantitative trait loci (QTLs) with interesting effects on behavioural indices in pig (Desautes et al. 2002; Chen et al. 2009;. Reiner et al. 2009). In humans and animals, aggres- sive behaviour is genetically related to neurotransmitter- related genes (Pavlov et al. 2012). For example, functional.

  6. A Delphi study to determine the European core curriculum for Master programmes in genetic counselling.

    Science.gov (United States)

    Skirton, Heather; Barnoy, Sivia; Ingvoldstad, Charlotta; van Kessel, Ingrid; Patch, Christine; O'Connor, Anita; Serra-Juhe, Clara; Stayner, Barbara; Voelckel, Marie-Antoinette

    2013-10-01

    Genetic counsellors have been working in some European countries for at least 30 years. Although there are great disparities between the numbers, education, practice and acceptance of these professionals across Europe, it is evident that genetic counsellors and genetic nurses in Europe are working autonomously within teams to deliver patient care. The aim of this study was to use the Delphi research method to develop a core curriculum to guide the educational preparation of these professionals in Europe. The Delphi method enables the researcher to utilise the views and opinions of a group of recognised experts in the field of study; this study consisted of four phases. Phases 1 and 4 consisted of expert workshops, whereas data were collected in phases 2 and 3 (n=35) via online surveys. All participants in the study were considered experts in the field of genetic counselling. The topics considered essential for genetic counsellor training have been organised under the following headings: (1) counselling; (2) psychological issues; (3) medical genetics; (4) human genetics; (5) ethics, law and sociology; (6) professional practice; and (7) education and research. Each topic includes the knowledge, skills and attitudes required to enable genetic counsellors to develop competence. In addition, it was considered by the experts that clinical practice should comprise 50% of the educational programme. The core Master programme curriculum will enable current courses to be assessed and inform the design of future educational programmes for European genetic counsellors.

  7. Mathematics

    CERN Document Server

    Eringen, A Cemal

    2013-01-01

    Continuum Physics: Volume 1 - Mathematics is a collection of papers that discusses certain selected mathematical methods used in the study of continuum physics. Papers in this collection deal with developments in mathematics in continuum physics and its applications such as, group theory functional analysis, theory of invariants, and stochastic processes. Part I explains tensor analysis, including the geometry of subspaces and the geometry of Finsler. Part II discusses group theory, which also covers lattices, morphisms, and crystallographic groups. Part III reviews the theory of invariants th

  8. Genetic variation, population structure, and linkage disequilibrium in European elite germplasm of perennial ryegrass

    DEFF Research Database (Denmark)

    Brazauskas, Gintaras; Lenk, Ingo; Pedersen, Morten Greve

    2011-01-01

    Perennial ryegrass (Lolium perenne L.) is a highly valued temperate climate grass species grown as forage crop and for amenity uses. Due to its outbreeding nature and recent domestication, a high degree of genetic diversity is expected among cultivars. The aim of this study was to assess the extent...... of linkage disequilibrium (LD) within European elite germplasm and to evaluate the appropriate methodology for genetic association mapping in perennial ryegrass. A high level of genetic diversity was observed in a set of 380 perennial ryegrass elite genotypes when genotyped with 40 SSRs and 2 STS markers...... and occurred within 0.4 cM across European varieties, when population structure was taken into consideration. However, an extended LD of up to 6.6 cM was detected within the variety Aberdart. High genetic diversity and rapid LD decay provide means for high resolution association mapping in elite materials...

  9. The genetic and environmental aetiology of spatial, mathematics and general anxiety.

    Science.gov (United States)

    Malanchini, Margherita; Rimfeld, Kaili; Shakeshaft, Nicholas G; Rodic, Maja; Schofield, Kerry; Selzam, Saskia; Dale, Philip S; Petrill, Stephen A; Kovas, Yulia

    2017-02-21

    Individuals differ in their level of general anxiety as well as in their level of anxiety towards specific activities, such as mathematics and spatial tasks. Both specific anxieties correlate moderately with general anxiety, but the aetiology of their association remains unexplored. Moreover, the factor structure of spatial anxiety is to date unknown. The present study investigated the factor structure of spatial anxiety, its aetiology, and the origins of its association with general and mathematics anxiety in a sample of 1,464 19-21-year-old twin pairs from the UK representative Twins Early Development Study. Participants reported their general, mathematics and spatial anxiety as part of an online battery of tests. We found that spatial anxiety is a multifactorial construct, including two components: navigation anxiety and rotation/visualization anxiety. All anxiety measures were moderately heritable (30% to 41%), and non-shared environmental factors explained the remaining variance. Multivariate genetic analysis showed that, although some genetic and environmental factors contributed to all anxiety measures, a substantial portion of genetic and non-shared environmental influences were specific to each anxiety construct. This suggests that anxiety is a multifactorial construct phenotypically and aetiologically, highlighting the importance of studying anxiety within specific contexts.

  10. Conservation genetics and population history of the threatened European mink Mustela lutreola, with an emphasis on the west European population.

    Science.gov (United States)

    Michaux, J R; Hardy, O J; Justy, F; Fournier, P; Kranz, A; Cabria, M; Davison, A; Rosoux, R; Libois, R

    2005-07-01

    In species of great conservation concern, special attention must be paid to their phylogeography, in particular the origin of animals for captive breeding and reintroduction. The endangered European mink lives now in at least three well-separated populations in northeast, southeast and west Europe. Our aim is to assess the genetic structure of these populations to identify 'distinct population segments' (DPS) and advise captive breeding programmes. First, the mtDNA control region was completely sequenced in 176 minks and 10 polecats. The analysis revealed that the western population is characterized by a single mtDNA haplotype that is closely related to those in eastern regions but nevertheless, not found there to date. The northeast European animals are much more variable (pi = 0.012, h = 0.939), with the southeast samples intermediate (pi = 0.0012, h = 0.469). Second, 155 European mink were genotyped using six microsatellites. The latter display the same trends of genetic diversity among regions as mtDNA [gene diversity and allelic richness highest in northeast Europe (H(E) = 0.539, R(S) = 3.76), lowest in west Europe (H(E) = 0.379, R(S) = 2.12)], and provide evidences that the southeast and possibly the west populations have undergone a recent bottleneck. Our results indicate that the western population derives from a few animals which recently colonized this region, possibly after a human introduction. Microsatellite data also reveal that isolation by distance occurs in the western population, causing some inbreeding because related individuals mate. As genetic data indicate that the three populations have not undergone independent evolutionary histories for long (no phylogeographical structure), they should not be considered as distinct DPS. In conclusion, the captive breeding programme should use animals from different parts of the species' present distribution area.

  11. The perceived impact of the European registration system for genetic counsellors and nurses.

    Science.gov (United States)

    Paneque, Milena; Moldovan, Ramona; Cordier, Christophe; Serra-Juhé, Clara; Feroce, Irene; Pasalodos, Sara; Haquet, Emmanuelle; Lambert, Debby; Bjørnevoll, Inga; Skirton, Heather

    2017-09-01

    The aim of the European Board of Medical Genetics has been to develop and promote academic and professional standards necessary in order to provide competent genetic counselling services. The aim of this study was to explore the impact of the European registration system for genetic nurses and counsellors from the perspectives of those professionals who have registered. Registration system was launched in 2013. A cross-sectional, online survey was used to explore the motivations and experiences of those applying for, and the effect of registration on their career. Fifty-five Genetic Nurses and Counsellors are registered till now, from them, thirty-three agreed to participate on this study. The main motivations for registering were for recognition of their work value and competence (30.3%); due to the absence of a registration system in their own country (15.2%) and the possibility of obtaining a European/international certification (27.3%), while 27.3% of respondents registered to support recognition of the genetic counselling profession. Some participants valued the registration process as an educational activity in its own right, while the majority indicated the greatest impact of the registration process was on their clinical practice. The results confirm that registrants value the opportunity to both confirm their own competence and advance the genetic counselling profession in Europe.

  12. Genetic diversity and differentiation in European beech (Fagus sylvatica L.) stands varying in management history

    NARCIS (Netherlands)

    Buiteveld, J.; Vendramin, G.G.; Leonardi, S.; Kramer, K.; Geburek, T.

    2007-01-01

    The impact of forest management on genetic diversity and mating was examined in European beech (Fagus sylvatica L.). Ten beech stands located in Europe were studied in pair-wise plots, differing in management intensity. The stands were genotyped with four highly polymorphic microsatellite loci.

  13. Genetic variability of European honey bee, Apis mellifera in mid hills ...

    African Journals Online (AJOL)

    To observe the genetic variability in European honey bee, A. mellifera, PCR was run separately with five primers and analysis of the banding pattern was worked out to investigate the molecular profile of honey bee genotypes collected from different locations having random amplified polymorphic DNA (RAPD) primers.

  14. Genetic linkage maps of Japanese and European pears aligned to the apple consensus map

    NARCIS (Netherlands)

    Yamamoto, T.; Kimura, T.; Saito, T.; Kotobuki, K.; Matsuta, N.; Liebhard, R.; Gessler, C.; Weg, van de W.E.; Hayashi, T.

    2004-01-01

    Genetic linkage maps of the Japanese pear (Pyrus pyrifolia Nakai) cultivar `Housui¿ and the European pear (Pyrus communis L.) cultivar `Bartlett¿ were constructed based on Amplified Fragment Length Polymorphism markers (AFLPs), Simple Sequence Repeat markers (SSRs) (from pear, apple and Prunus),

  15. Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure

    NARCIS (Netherlands)

    Alonso-Perez, Elisa; Suarez-Gestal, Marian; Calaza, Manuel; Witte, Torsten; Papasteriades, Chryssa; Marchini, Maurizio; Migliaresi, Sergio; Kovacs, Attila; Ordi-Ros, Josep; Bijl, Marc; Santos, Maria Jose; Ruzickova, Sarka; Pullmann, Rudolf; Carreira, Patricia; Skopouli, Fotini N.; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Suarez, Ana; Blanco, Francisco J.; Gomez-Reino, Juan J.; Gonzalez, Antonio

    2011-01-01

    Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population

  16. Genetic evaluation of European quails by random regression models

    Directory of Open Access Journals (Sweden)

    Flaviana Miranda Gonçalves

    2012-09-01

    Full Text Available The objective of this study was to compare different random regression models, defined from different classes of heterogeneity of variance combined with different Legendre polynomial orders for the estimate of (covariance of quails. The data came from 28,076 observations of 4,507 female meat quails of the LF1 lineage. Quail body weights were determined at birth and 1, 14, 21, 28, 35 and 42 days of age. Six different classes of residual variance were fitted to Legendre polynomial functions (orders ranging from 2 to 6 to determine which model had the best fit to describe the (covariance structures as a function of time. According to the evaluated criteria (AIC, BIC and LRT, the model with six classes of residual variances and of sixth-order Legendre polynomial was the best fit. The estimated additive genetic variance increased from birth to 28 days of age, and dropped slightly from 35 to 42 days. The heritability estimates decreased along the growth curve and changed from 0.51 (1 day to 0.16 (42 days. Animal genetic and permanent environmental correlation estimates between weights and age classes were always high and positive, except for birth weight. The sixth order Legendre polynomial, along with the residual variance divided into six classes was the best fit for the growth rate curve of meat quails; therefore, they should be considered for breeding evaluation processes by random regression models.

  17. Implementing a 'European' appoach to mathematics education in Indonesia through teacher education

    NARCIS (Netherlands)

    Zulkardi, Z.; Nieveen, N.M.; van den Akker, Jan; de Lange, Jan

    2002-01-01

    This paper reports on the results of a four-year study called CASCADE-IMEI that is a learning environment (LE) in the form of a face-to-face course and a web site (www.clix.to/zulkardi ) which aims to introduce Realistic Mathematics Education (RME), Dutch approach to mathematics education, as an

  18. Mathematics

    CERN Document Server

    Stein, Sherman K

    2010-01-01

    Anyone can appreciate the beauty, depth, and vitality of mathematics with the help of this highly readable text, specially developed from a college course designed to appeal to students in a variety of fields. Readers with little mathematical background are exposed to a broad range of subjects chosen from number theory, topology, set theory, geometry, algebra, and analysis. Starting with a survey of questions on weight, the text discusses the primes, the fundamental theorem of arithmetic, rationals and irrationals, tiling, tiling and electricity, probability, infinite sets, and many other topi

  19. Detecting Genetic Isolation in Human Populations: A Study of European Language Minorities

    Science.gov (United States)

    Capocasa, Marco; Battaggia, Cinzia; Anagnostou, Paolo; Montinaro, Francesco; Boschi, Ilaria; Ferri, Gianmarco; Alù, Milena; Coia, Valentina; Crivellaro, Federica; Bisol, Giovanni Destro

    2013-01-01

    The identification of isolation signatures is fundamental to better understand the genetic structure of human populations and to test the relations between cultural factors and genetic variation. However, with current approaches, it is not possible to distinguish between the consequences of long-term isolation and the effects of reduced sample size, selection and differential gene flow. To overcome these limitations, we have integrated the analysis of classical genetic diversity measures with a Bayesian method to estimate gene flow and have carried out simulations based on the coalescent. Combining these approaches, we first tested whether the relatively short history of cultural and geographical isolation of four “linguistic islands” of the Eastern Alps (Lessinia, Sauris, Sappada and Timau) had left detectable signatures in their genetic structure. We then compared our findings to previous studies of European population isolates. Finally, we explored the importance of demographic and cultural factors in shaping genetic diversity among the groups under study. A combination of small initial effective size and continued genetic isolation from surrounding populations seems to provide a coherent explanation for the diversity observed among Sauris, Sappada and Timau, which was found to be substantially greater than in other groups of European isolated populations. Simulations of micro-evolutionary scenarios indicate that ethnicity might have been important in increasing genetic diversity among these culturally related and spatially close populations. PMID:23418562

  20. Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law.

    Science.gov (United States)

    Huys, Isabelle; Van Overwalle, Geertrui; Matthijs, Gert

    2011-10-01

    The paper focuses on the fundamental debate that is going on in Europe and the United States about whether genes and genetic diagnostic methods are to be regarded as inventions or subject matter eligible for patent protection, or whether they are discoveries or principles of nature and thus excluded from patentability. The study further explores some possible scenarios of American influences on European patent applications with respect to genetic diagnostic methods. Our analysis points out that patent eligibility for genes and genetic diagnostic methods, as discussed in the United States in the Association of Molecular Pathology versus US Patent and Trademark Office decision, is based on a different reasoning compared with the European Patent Convention.

  1. Molecular Markers for Genetic Diversity Studies of European Hare (Lepus europaeus Pallas, 1778 Populations

    Directory of Open Access Journals (Sweden)

    Noémi Soós

    2015-05-01

    Full Text Available The purpose of this article is to give an overview of different molecular techniques which have been used in studies concerning population genetic issues of Lepus species and specifically of L. europaeus. The importance of these researches is ever-growing as the European populations of the brown hare have suffered several falloffs as a consequent upon both natural and anthropogenic effects. With developing tools and techniques molecular genetics have become the centrepiece of population genetics and conservation biology. Nucleic acid methods based on both bi- and uniparentally inherited DNA (allozymes, microsatellites, Y chromosome, mtDNA are often used to study genetic structure, diversity and phylogeography of different species’ populations due to their effectiveness in identifying genetic variability

  2. Latina and European American Girls' Experiences with Academic Sexism and their Self-Concepts in Mathematics and Science During Adolescence.

    Science.gov (United States)

    Brown, Christia Spears; Leaper, Campbell

    2010-12-01

    The study investigated Latina and European American adolescent girls' (N = 345, M = 15.2 years, range = 13 to 18) experiences with academic sexism in mathematics and science (M/S) and their M/S perceived competence and M/S value (liking and importance). M/S academic sexism was based on girls' reported experiences hearing sexist comments about girls' abilities in math and science. Older European American adolescents, and both younger and older Latina adolescents, who experienced several instances of academic sexism felt less competent in M/S than girls who experienced less sexism (controlling for M/S grades). In addition, among older girls (regardless of ethnicity), those who experienced several instances of academic sexism valued M/S less than girls who experienced less sexism.

  3. Latina and European American Girls’ Experiences with Academic Sexism and their Self-Concepts in Mathematics and Science During Adolescence

    Science.gov (United States)

    Leaper, Campbell

    2010-01-01

    The study investigated Latina and European American adolescent girls’ (N = 345, M = 15.2 years, range = 13 to 18) experiences with academic sexism in mathematics and science (M/S) and their M/S perceived competence and M/S value (liking and importance). M/S academic sexism was based on girls’ reported experiences hearing sexist comments about girls’ abilities in math and science. Older European American adolescents, and both younger and older Latina adolescents, who experienced several instances of academic sexism felt less competent in M/S than girls who experienced less sexism (controlling for M/S grades). In addition, among older girls (regardless of ethnicity), those who experienced several instances of academic sexism valued M/S less than girls who experienced less sexism. PMID:21212810

  4. Information geometry and population genetics the mathematical structure of the Wright-Fisher model

    CERN Document Server

    Hofrichter, Julian; Tran, Tat Dat

    2017-01-01

    The present monograph develops a versatile and profound mathematical perspective of the Wright--Fisher model of population genetics. This well-known and intensively studied model carries a rich and beautiful mathematical structure, which is uncovered here in a systematic manner. In addition to approaches by means of analysis, combinatorics and PDE, a geometric perspective is brought in through Amari's and Chentsov's information geometry. This concept allows us to calculate many quantities of interest systematically; likewise, the employed global perspective elucidates the stratification of the model in an unprecedented manner. Furthermore, the links to statistical mechanics and large deviation theory are explored and developed into powerful tools. Altogether, the manuscript provides a solid and broad working basis for graduate students and researchers interested in this field.

  5. Genetic diversity within and between European pig breeds using microsatellite markers.

    Science.gov (United States)

    SanCristobal, M; Chevalet, C; Haley, C S; Joosten, R; Rattink, A P; Harlizius, B; Groenen, M A M; Amigues, Y; Boscher, M-Y; Russell, G; Law, A; Davoli, R; Russo, V; Désautés, C; Alderson, L; Fimland, E; Bagga, M; Delgado, J V; Vega-Pla, J L; Martinez, A M; Ramos, M; Glodek, P; Meyer, J N; Gandini, G C; Matassino, D; Plastow, G S; Siggens, K W; Laval, G; Archibald, A L; Milan, D; Hammond, K; Cardellino, R

    2006-06-01

    An important prerequisite for a conservation programme is a comprehensive description of genetic diversity. The aim of this study was to use anonymous genetic markers to assess the between- and the within-population components of genetic diversity for European pig breeds at the scale of the whole continent using microsatellites. Fifty-eight European pig breeds and lines were analysed including local breeds, national varieties of international breeds and commercial lines. A sample of the Chinese Meishan breed was also included. Eleven additional breeds from a previous project were added for some analyses. Approximately 50 individuals per breed were genotyped for a maximum of 50 microsatellite loci. Substantial within-breed variability was observed, with the average expected heterozygosity and observed number of alleles per locus being 0.56 [range 0.43-0.68] and 4.5 respectively. Genotypic frequencies departed from Hardy-Weinberg expectations (P < 0.01) in 15 European populations, with an excess of homozygotes in 12 of them. The European breeds were on average genetically very distinct, with a Wright F(ST) index value of 0.21. The Neighbour-Joining tree drawn from the Reynolds distances among the breeds showed that the national varieties of major breeds and the commercial lines were mostly clustered around their breeds of reference (Duroc, Hampshire, Landrace, Large White and Piétrain). In contrast, local breeds, with the exception of the Iberian breeds, exhibited a star-like topology. The results are discussed in the light of various forces, which may have driven the recent evolution of European pig breeds. This study has consequences for the interpretation of biodiversity results and will be of importance for future conservation programmes.

  6. The European Society of Human Genetics: beginnings, early history and development over its first 25 years.

    Science.gov (United States)

    Harper, Peter S

    2017-05-10

    The European Society of Human Genetics (ESHG) was founded on 15 March 1967, after preliminary discussions at the International Human Genetics Congress in Chicago the previous year and in Copenhagen in early 1967. Its initial meeting was held on 18-19 November 1967, also in Copenhagen, and annual meetings have been held from that time until the present, apart from years in which the International Congress of Human Genetics was also being held. The character of the Society during its early years was strongly influenced by its founding and permanent Secretary, Jan Mohr, head of the Copenhagen Institute of Medical Genetics, whose records are archived in the Tage Kemp/Jan Mohr Archive, now part of the Danish National Archives. These records show Jan Mohr's determination to keep the activities of the Society limited to the holding of an annual meeting to enhance contacts between European human geneticists, and to resist expansion to other activities. Pressures for a wider role of ESHG became irresistible in the late 1980s and a revised constitution, adopted in 1991, reshaped the Society into a more conventional and less restrictive structure. This has allowed it to play a wider and increasingly influential role in the development of human and medical genetics across Europe, with its own Journal, a range of committees covering different aspects of the field and a series of valuable reports on specific important topics, to be described in a forthcoming article on the Society's more recent history.European Journal of Human Genetics advance online publication, 10 May 2017; doi:10.1038/ejhg.2017.34.

  7. Genetic structure of Europeans: a view from the North-East.

    Directory of Open Access Journals (Sweden)

    Mari Nelis

    Full Text Available Using principal component (PC analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs genotyped with the Illumina Infinium platform. In cohorts where the sample size was >100, one hundred randomly chosen samples were used for analysis to minimize the sample size effect, resulting in a total of 1,564 samples. This analysis revealed that the genetic structure of the European population correlates closely with geography. The first two PCs highlight the genetic diversity corresponding to the northwest to southeast gradient and position the populations according to their approximate geographic origin. The resulting genetic map forms a triangular structure with a Finland, b the Baltic region, Poland and Western Russia, and c Italy as its vertexes, and with d Central- and Western Europe in its centre. Inter- and intra- population genetic differences were quantified by the inflation factor lambda (lambda (ranging from 1.00 to 4.21, fixation index (F(st (ranging from 0.000 to 0.023, and by the number of markers exhibiting significant allele frequency differences in pair-wise population comparisons. The estimated lambda was used to assess the real diminishing impact to association statistics when two distinct populations are merged directly in an analysis. When the PC analysis was confined to the 1,019 Estonian individuals (0.1% of the Estonian population, a fine structure emerged that correlated with the geography of individual counties. With at least two cohorts available from several countries, genetic substructures were investigated in Czech, Finnish, German, Estonian and Italian populations. Together with previously published data, our results allow the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS.

  8. Founder events and pre-glacial divergences shape the genetic structure of European Collembola species.

    Science.gov (United States)

    von Saltzwedel, Helge; Scheu, Stefan; Schaefer, Ina

    2016-07-16

    Climate oscillations in the Cenozoic reduced species richness and genetic diversity of terrestrial and aquatic animals and plants in central and northern Europe. The most abundant arthropods in temperate soils are Collembola that live in almost any soil-related habitat. Extant species show little morphological variation to Eocene fossils, suggesting persistence of species in stable habitats for millions of years. Collembola are able to evade adverse climatic conditions by moving into deeper soil layers and are tolerant to frost and draught. If these adaptations sufficed for surviving glacial periods remains open and needs to be investigated in a phylogeographic context, i.e. investigating spatial structure on molecular level. We investigated the molecular variation of three common species of Collembola at a pan-European scale to identify glacial refuges and post-glacial colonization patterns with three genetic markers. All genes revealed remarkable genetic structure between but not within populations, suggesting density dependent processes for establishment of populations (founder-takes-all principle), which is common for European animals and plants. In contrast to the post-glacial recolonization patterns of many aboveground organisms, divergence times of most geographic lineages indicate preservation of genetic structure since the Miocene. Collembola survived severe climatic changes including those during Quatenary glaciation and kept high genetic variance across Europe. Likely the buffering of temperature oscilliations in soil and the ability to evade adverse climatic conditions due to cold-tolerance and horizontal migration enabled Collembola to evade strong selective pressure of abiotic forces.

  9. Genetic structure of European populations of Salmo salar L (Atlantic salmon) inferred from mitochondrial DNA

    DEFF Research Database (Denmark)

    Eg Nielsen, Einar; Hansen, Michael Møller; Loeschcke, V.

    1996-01-01

    The genetic relationships between the only natural population of Atlantic salmon (Salmo salar L.) in Denmark and seven other European salmon populations were studied using RFLP analysis of PCR amplified mitochondrial DNA segments. Six different haplotypes were detected by restriction enzyme...... analyses of the NADH dehydrogenase 1 segment, employing four endonucleases. Significant genetic differentiation was observed among populations. A hierarchical analysis of the distribution of the mtDNA variability revealed that only a small part was distributed among geographical groups within the study...

  10. Regulations governing veterinary medicinal products containing genetically modified organisms in the European community.

    Science.gov (United States)

    Moulin, G

    2005-04-01

    This paper describes particular aspects of the marketing of veterinary medicinal products (VMPs) that contain or consist of genetically modified micro-organisms (GMMs) or genetically modified organisms (GMOs). The regulatory requirements and the procedures applied in the European Union for each phase (pre-marketing, authorisation process, and post-authorisation labelling and monitoring) are explained. In most cases VMPs are subject to both pharmaceutical and GMO regulations. In the early stages of the process, before applications for marketing authorisation are submitted, the assessment of clinical trials and experiments in contained areas is principally the responsibility of national authorities. However, the marketing of all VMPs containing or consisting of GMOs must be authorised at European level, although the national authorities are informed and involved in the assessment process.

  11. Degree of European Genetic Ancestry is Associated with Serum Vitamin D Levelsin African Americans.

    Science.gov (United States)

    Haddad, Stephen A; Ruiz-Narváez, Edward A; Cozier, Yvette C; Gerlovin, Hanna; Rosenberg, Lynn; Palmer, Julie R

    2018-01-30

    Circulating levels of vitamin D are generally lower in African Americans compared to U.S. whites, and one prior analysis in a small number of African Americans suggested that, within this population, vitamin D levels may be related to the degree of genetic admixture. We assessed the association of percent European ancestry with serum vitamin D levels in 2183 African American women from the Black Women's Health Study in 2013-2015, whose DNA had been genotyped for ancestry informative markers. ADMIXMAP software was used to estimate percent European versus African ancestry in each individual. In linear regression analyses with adjustment for genotype batch, age, body mass index, supplemental vitamin D use, UVB flux in state of residence, and season of blood draw, each 10% increase in European ancestry was associated with a 0.672 ng/mL increase in serum vitamin D concentration (95% confidence interval 0.173, 1.170). The association was statistically significant only among women who were not taking vitamin D supplements (beta coefficient for 10% increase in European ancestry 0.855, 95% confidence interval 0.139, 1.571). Among African Americans, use of vitamin D supplementation may help to reduce vitamin D deficiency due to genetic ancestry. © The Author(s) 2018. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  12. Establishment of the mathematical model for diagnosing the engine valve faults by genetic programming

    Science.gov (United States)

    Yang, Wen-Xian

    2006-05-01

    Available machine fault diagnostic methods show unsatisfactory performances on both on-line and intelligent analyses because their operations involve intensive calculations and are labour intensive. Aiming at improving this situation, this paper describes the development of an intelligent approach by using the Genetic Programming (abbreviated as GP) method. Attributed to the simple calculation of the mathematical model being constructed, different kinds of machine faults may be diagnosed correctly and quickly. Moreover, human input is significantly reduced in the process of fault diagnosis. The effectiveness of the proposed strategy is validated by an illustrative example, in which three kinds of valve states inherent in a six-cylinders/four-stroke cycle diesel engine, i.e. normal condition, valve-tappet clearance and gas leakage faults, are identified. In the example, 22 mathematical functions have been specially designed and 8 easily obtained signal features are used to construct the diagnostic model. Different from existing GPs, the diagnostic tree used in the algorithm is constructed in an intelligent way by applying a power-weight coefficient to each feature. The power-weight coefficients vary adaptively between 0 and 1 during the evolutionary process. Moreover, different evolutionary strategies are employed, respectively for selecting the diagnostic features and functions, so that the mathematical functions are sufficiently utilized and in the meantime, the repeated use of signal features may be fully avoided. The experimental results are illustrated diagrammatically in the following sections.

  13. Association of Systemic Lupus Erythematosus Clinical Features with European Population Genetic Substructure

    Science.gov (United States)

    Calaza, Manuel; Witte, Torsten; Papasteriades, Chryssa; Marchini, Maurizio; Migliaresi, Sergio; Kovacs, Attila; Ordi-Ros, Josep; Bijl, Marc; Santos, Maria Jose; Ruzickova, Sarka; Pullmann, Rudolf; Carreira, Patricia; Skopouli, Fotini N.; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Suarez, Ana; Blanco, Francisco J.; Gomez-Reino, Juan J.; Gonzalez, Antonio

    2011-01-01

    Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10−4), oral ulcers (P = 6.9×10−4) and photosensitivity (P = 0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested. PMID:22194982

  14. Association of systemic lupus erythematosus clinical features with European population genetic substructure.

    Directory of Open Access Journals (Sweden)

    Elisa Alonso-Perez

    Full Text Available Systemic Lupus Erythematosus (SLE is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10(-4, oral ulcers (P = 6.9×10(-4 and photosensitivity (P = 0.002. Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested.

  15. Association of systemic lupus erythematosus clinical features with European population genetic substructure.

    Science.gov (United States)

    Alonso-Perez, Elisa; Suarez-Gestal, Marian; Calaza, Manuel; Witte, Torsten; Papasteriades, Chryssa; Marchini, Maurizio; Migliaresi, Sergio; Kovacs, Attila; Ordi-Ros, Josep; Bijl, Marc; Santos, Maria Jose; Ruzickova, Sarka; Pullmann, Rudolf; Carreira, Patricia; Skopouli, Fotini N; D'Alfonso, Sandra; Sebastiani, Gian Domenico; Suarez, Ana; Blanco, Francisco J; Gomez-Reino, Juan J; Gonzalez, Antonio

    2011-01-01

    Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers. This analysis was done with logistic regression between phenotypes and genotypes or principal components extracted from them. We used a genetic additive model and adjusted for gender and disease duration. Three clinical features showed association with ancestry informative markers: autoantibody production defined as immunologic disorder (P = 6.8×10(-4)), oral ulcers (P = 6.9×10(-4)) and photosensitivity (P = 0.002). Immunologic disorder was associated with genotypes more common in Southern European ancestries, whereas the opposite trend was observed for photosensitivity. Oral ulcers were specifically more common in patients of Spanish and Portuguese self-reported ancestry. These results should be taken into account in future research and suggest new hypotheses and possible underlying mechanisms to be investigated. A first hypothesis linking photosensitivity with variation in skin pigmentation is suggested.

  16. Teaching Mathematics Online in the European Area of Higher Education: An Instructor's Point of View

    Science.gov (United States)

    Juan, Angel A.; Steegmann, Cristina; Huertas, Antonia; Martinez, M. Jesus; Simosa, J.

    2011-01-01

    This article first discusses how information technologies are changing the way knowledge is delivered at universities worldwide. Then, the article reviews some of the most popular learning management systems available today and some of the most useful online resources in the areas of Mathematics and Statistics. After that, some long-term…

  17. Genetic variability of woolly aphid (Adelges laricis Vall.) resistance in European larch (Larix decidua Mill.)

    Energy Technology Data Exchange (ETDEWEB)

    Blada, I. [Forest Research Inst., Bucharest (Romania)

    1995-12-31

    One hundred and eleven clones of European larch were exposed to the woolly aphid and then outplanted in three locations using a randomized complete block design. At ages 11 and 19 years resistance was measured on 102 clones at 2 locations. Highly significant genetic differences were observed among the clones at both locations and at both ages. Highly significant clone x location, clone x location x age interactions were also observed. Differences between the most resistant and most susceptible clones was 483%. Sufficient genetic variation for a breeding program was present. Broad-sense heritability estimates for Adelges resistance varied by location. Significant age to age, location to location and age to location phenotypic correlation for resistance were found. Larch resistance seems to be under polygenic control. A substantial genetic gain could be achieved by selecting the best clones and using vegetative propagation, including somaclonal embryogenesis, for multiplication. 23 refs, 2 figs, 8 tabs

  18. Genetic analysis of Phytophthora infestans populations in the Nordic European countries reveals high genetic variability

    DEFF Research Database (Denmark)

    Brurberg, May Bente; Elameen, Abdelhameed; Le, Ving Hong

    2011-01-01

    Late blight, caused by the oomycete Phytophthora infestans, is the most important disease of potato (Solanum tuberosum). The pathogen is highly adaptable and to get an overview of the genetic variation in the Nordic countries, Denmark, Finland, Norway and Sweden we have analyzed 200 isolates from...

  19. Genetic variation, phenotypic stability, and repeatability of drought response in European larch throughout 50 years in a common garden experiment

    OpenAIRE

    George, Jan-Peter; Grabner, Michael; Karanitsch-Ackerl, Sandra; Mayer, Konrad; Wei?enbacher, Lambert; Schueler, Silvio

    2017-01-01

    Abstract Assessing intra-specific variation in drought stress response is required to mitigate the consequences of climate change on forest ecosystems. Previous studies suggest that European larch (Larix decidua Mill.), an important European conifer in mountainous and alpine forests, is highly vulnerable to drought. In light of this, we estimated the genetic variation in drought sensitivity and its degree of genetic determination in a 50-year-old common garden experiment in the drought-prone ...

  20. [Genetically modified plants and food safety. State of the art and discussion in the European Union].

    Science.gov (United States)

    Schauzu, M

    2004-09-01

    Placing genetically modified (GM) plants and derived products on the European Union's (EU) market has been regulated by a Community Directive since 1990. This directive was complemented by a regulation specific for genetically modified and other novel foods in 1997. Specific labelling requirements have been applicable for GM foods since 1998. The law requires a pre-market safety assessment for which criteria have been elaborated and continuously adapted in accordance with the state of the art by national and international bodies and organisations. Consequently, only genetically modified products that have been demonstrated to be as safe as their conventional counterparts can be commercialized. However, the poor acceptance of genetically modified foods has led to a de facto moratorium since 1998. It is based on the lack of a qualified majority of EU member states necessary for authorization to place genetically modified plants and derived foods on the market. New Community Regulations are intended to end this moratorium by providing a harmonized and transparent safety assessment, a centralised authorization procedure, extended labelling provisions and a traceability system for genetically modified organisms (GMO) and derived food and feed.

  1. Genetic architecture of skin and eye color in an African-European admixed population.

    Science.gov (United States)

    Beleza, Sandra; Johnson, Nicholas A; Candille, Sophie I; Absher, Devin M; Coram, Marc A; Lopes, Jailson; Campos, Joana; Araújo, Isabel Inês; Anderson, Tovi M; Vilhjálmsson, Bjarni J; Nordborg, Magnus; Correia E Silva, António; Shriver, Mark D; Rocha, Jorge; Barsh, Gregory S; Tang, Hua

    2013-03-01

    Variation in human skin and eye color is substantial and especially apparent in admixed populations, yet the underlying genetic architecture is poorly understood because most genome-wide studies are based on individuals of European ancestry. We study pigmentary variation in 699 individuals from Cape Verde, where extensive West African/European admixture has given rise to a broad range in trait values and genomic ancestry proportions. We develop and apply a new approach for measuring eye color, and identify two major loci (HERC2[OCA2] P = 2.3 × 10(-62), SLC24A5 P = 9.6 × 10(-9)) that account for both blue versus brown eye color and varying intensities of brown eye color. We identify four major loci (SLC24A5 P = 5.4 × 10(-27), TYR P = 1.1 × 10(-9), APBA2[OCA2] P = 1.5 × 10(-8), SLC45A2 P = 6 × 10(-9)) for skin color that together account for 35% of the total variance, but the genetic component with the largest effect (~44%) is average genomic ancestry. Our results suggest that adjacent cis-acting regulatory loci for OCA2 explain the relationship between skin and eye color, and point to an underlying genetic architecture in which several genes of moderate effect act together with many genes of small effect to explain ~70% of the estimated heritability.

  2. Genetic architecture of skin and eye color in an African-European admixed population.

    Directory of Open Access Journals (Sweden)

    Sandra Beleza

    2013-03-01

    Full Text Available Variation in human skin and eye color is substantial and especially apparent in admixed populations, yet the underlying genetic architecture is poorly understood because most genome-wide studies are based on individuals of European ancestry. We study pigmentary variation in 699 individuals from Cape Verde, where extensive West African/European admixture has given rise to a broad range in trait values and genomic ancestry proportions. We develop and apply a new approach for measuring eye color, and identify two major loci (HERC2[OCA2] P = 2.3 × 10(-62, SLC24A5 P = 9.6 × 10(-9 that account for both blue versus brown eye color and varying intensities of brown eye color. We identify four major loci (SLC24A5 P = 5.4 × 10(-27, TYR P = 1.1 × 10(-9, APBA2[OCA2] P = 1.5 × 10(-8, SLC45A2 P = 6 × 10(-9 for skin color that together account for 35% of the total variance, but the genetic component with the largest effect (~44% is average genomic ancestry. Our results suggest that adjacent cis-acting regulatory loci for OCA2 explain the relationship between skin and eye color, and point to an underlying genetic architecture in which several genes of moderate effect act together with many genes of small effect to explain ~70% of the estimated heritability.

  3. The genetic ancestry of African Americans, Latinos, and European Americans across the United States.

    Science.gov (United States)

    Bryc, Katarzyna; Durand, Eric Y; Macpherson, J Michael; Reich, David; Mountain, Joanna L

    2015-01-08

    Over the past 500 years, North America has been the site of ongoing mixing of Native Americans, European settlers, and Africans (brought largely by the trans-Atlantic slave trade), shaping the early history of what became the United States. We studied the genetic ancestry of 5,269 self-described African Americans, 8,663 Latinos, and 148,789 European Americans who are 23andMe customers and show that the legacy of these historical interactions is visible in the genetic ancestry of present-day Americans. We document pervasive mixed ancestry and asymmetrical male and female ancestry contributions in all groups studied. We show that regional ancestry differences reflect historical events, such as early Spanish colonization, waves of immigration from many regions of Europe, and forced relocation of Native Americans within the US. This study sheds light on the fine-scale differences in ancestry within and across the United States and informs our understanding of the relationship between racial and ethnic identities and genetic ancestry. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  4. Reconstructing the Indian origin and dispersal of the European Roma: a maternal genetic perspective.

    Directory of Open Access Journals (Sweden)

    Isabel Mendizabal

    Full Text Available Previous genetic, anthropological and linguistic studies have shown that Roma (Gypsies constitute a founder population dispersed throughout Europe whose origins might be traced to the Indian subcontinent. Linguistic and anthropological evidence point to Indo-Aryan ethnic groups from North-western India as the ancestral parental population of Roma. Recently, a strong genetic hint supporting this theory came from a study of a private mutation causing primary congenital glaucoma. In the present study, complete mitochondrial control sequences of Iberian Roma and previously published maternal lineages of other European Roma were analyzed in order to establish the genetic affinities among Roma groups, determine the degree of admixture with neighbouring populations, infer the migration routes followed since the first arrival to Europe, and survey the origin of Roma within the Indian subcontinent. Our results show that the maternal lineage composition in the Roma groups follows a pattern of different migration routes, with several founder effects, and low effective population sizes along their dispersal. Our data allowed the confirmation of a North/West migration route shared by Polish, Lithuanian and Iberian Roma. Additionally, eleven Roma founder lineages were identified and degrees of admixture with host populations were estimated. Finally, the comparison with an extensive database of Indian sequences allowed us to identify the Punjab state, in North-western India, as the putative ancestral homeland of the European Roma, in agreement with previous linguistic and anthropological studies.

  5. Genetic studies revealed differences between European and North American populations of Calypogeia azurea

    Directory of Open Access Journals (Sweden)

    Buczkowska Katarzyna

    2016-06-01

    Full Text Available Calypogeia azurea, a widespread, subboreal-montane liverwort species, is one of a few representatives of the Calypogeia genus that are characterized by the occurrence of blue oil bodies. The aim of the study was to investigate the genetic variation and population structure of C. azurea originating from different parts of its distribution range (Europe and North America. Plants of C. azurea were compared with C. peruviana, another Calypogeia species with blue oil bodies. In general, 339 gametophytes from 15 populations of C. azurea were examined. Total gene diversity (HT estimated on the basis of nine isozyme loci of C. azurea at the species level was 0.201. The mean Nei’s genetic distance between European populations was equal to 0.083, whereas the mean genetic distance between populations originating from Europe and North America was 0.413. The analysis of molecular variance (AMOVA showed that 69% of C. azurea genetic variation was distributed among regions (Europe and North America, 15% - among populations within regions, and 16% - within populations. Our study revealed that C. azurea showed genetic diversity within its geographic distribution. All examined samples classified as C. azurea differed in respect of isozyme patterns from C. peruviana.

  6. Lack of genetic structure in greylag goose (Anser anser populations along the European Atlantic flyway

    Directory of Open Access Journals (Sweden)

    Irene Pellegrino

    2015-08-01

    Full Text Available Greylag goose populations are steadily increasing in north-western Europe. Although individuals breeding in the Netherlands have been considered mainly sedentary birds, those from Scandinavia or northern Germany fly towards their winter quarters, namely over France as far as Spain. This study aimed to determine the genetic structure of these birds, and to evaluate how goose populations mix. We used mitochondrial DNA and microsatellites from individuals distributed throughout the European Atlantic flyway, from breeding sites in Norway and the Netherlands to stopover and wintering sites in northern and south-western France. The mtDNA marker (CR1 D-Loop, 288 bp sequence, 144 ind. showed 23 different haplotypes. The genetic distances amongst individuals sampled in Norway, northern France and the Netherlands were low (range 0.012–0.013. Individuals in south-western France showed a slightly higher genetic distance compared to all other sampling areas (ranges 0.018–0.022. The NJ tree does not show evidence of any single clades grouping together all individuals from the same geographic area. Besides, individuals from each site are found in different branches. Bayesian clustering procedures on 14 microsatellites (169 individuals did not detect any geographically distinct cluster, and a high genetic admixture was recorded in all studied areas except for the individuals from the breeding sites in Norway, which were genetically very close. Estimation of migration rates through Bayesian inference confirms the scenario for the current mixing of goose populations.

  7. Hybridization levels in European Sus scrofa, comparison between genetic and survey data

    DEFF Research Database (Denmark)

    Iacolina, Laura; Bakan, Jana; Cubric-Curik, Vlatka

    2016-01-01

    Outdoor farming has been traditionally implemented in some European rural areas, but was mostly limited to backyard or small farming systems, however we are now observing an increment in this practice, as a result of both increased attention to animal welfare and consumers interest in organic food....... At the same time, Europe is showing interest in rewilding projects. This combination might expand the wildlife-livestock interface, with enhanced sanitary risk and hybridization. Hybridization events between the domestic pig (Sus scrofa domestica; hereafter DP) and the wild boar (Sus scrofa; hereafter WB......) for the study of genomic ancestry and hybridization. SNP markers are easily comparable between laboratories, biparentally inherited and allow the simultaneous study of loci neutral and under selection. Here we present a comparison based on data from several European countries of genetic hybridization levels...

  8. Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

    NARCIS (Netherlands)

    F. Liu; M. Visser (Mijke); D.L. Duffy (David); P.G. Hysi (Pirro); L.C. Jacobs (Leonie); O. Lao Grueso (Oscar); K. Zhong (Kaiyin); S. Walsh (Susan); L.C. Chaitanya (Lakshmi); A. Wollstein (Andreas); G. Zhu (Gu); G.W. Montgomery (Grant); A.K. Henders (Anjali); M. Mangino (Massimo); D. Glass (Daniel); V. Bataille (Veronique); R.A. Sturm (Richard A.); F. Rivadeneira Ramirez (Fernando); A. Hofman (Albert); W.F.J. van IJcken (Wilfred); A.G. Uitterlinden (André); R.-J.T.S. Palstra (Robert-Jan); T.D. Spector (Timothy); N.G. Martin (Nicholas); T.E.C. Nijsten (Tamar); M.H. Kayser (Manfred)

    2015-01-01

    textabstractIn the International Visible Trait Genetics (VisiGen) Consortium, we investigated the genetics of human skin color by combining a series of genome-wide association studies (GWAS) in a total of 17,262 Europeans with functional follow-up of discovered loci. Our GWAS provide the first

  9. Genetic patterns in European geometrid moths revealed by the Barcode Index Number (BIN system.

    Directory of Open Access Journals (Sweden)

    Axel Hausmann

    Full Text Available BACKGROUND: The geometrid moths of Europe are one of the best investigated insect groups in traditional taxonomy making them an ideal model group to test the accuracy of the Barcode Index Number (BIN system of BOLD (Barcode of Life Datasystems, a method that supports automated, rapid species delineation and identification. METHODOLOGY/PRINCIPAL FINDINGS: This study provides a DNA barcode library for 219 of the 249 European geometrid moth species (88% in five selected subfamilies. The data set includes COI sequences for 2130 specimens. Most species (93% were found to possess diagnostic barcode sequences at the European level while only three species pairs (3% were genetically indistinguishable in areas of sympatry. As a consequence, 97% of the European species we examined were unequivocally discriminated by barcodes within their natural areas of distribution. We found a 1:1 correspondence between BINs and traditionally recognized species for 67% of these species. Another 17% of the species (15 pairs, three triads shared BINs, while specimens from the remaining species (18% were divided among two or more BINs. Five of these species are mixtures, both sharing and splitting BINs. For 82% of the species with two or more BINs, the genetic splits involved allopatric populations, many of which have previously been hypothesized to represent distinct species or subspecies. CONCLUSIONS/SIGNIFICANCE: This study confirms the effectiveness of DNA barcoding as a tool for species identification and illustrates the potential of the BIN system to characterize formal genetic units independently of an existing classification. This suggests the system can be used to efficiently assess the biodiversity of large, poorly known assemblages of organisms. For the moths examined in this study, cases of discordance between traditionally recognized species and BINs arose from several causes including overlooked species, synonymy, and cases where DNA barcodes revealed

  10. Risk of genetic maladaptation due to climate change in three major European tree species.

    Science.gov (United States)

    Frank, Aline; Howe, Glenn T; Sperisen, Christoph; Brang, Peter; Clair, J Bradley St; Schmatz, Dirk R; Heiri, Caroline

    2017-12-01

    Tree populations usually show adaptations to their local environments as a result of natural selection. As climates change, populations can become locally maladapted and decline in fitness. Evaluating the expected degree of genetic maladaptation due to climate change will allow forest managers to assess forest vulnerability, and develop strategies to preserve forest health and productivity. We studied potential genetic maladaptation to future climates in three major European tree species, Norway spruce (Picea abies), silver fir (Abies alba), and European beech (Fagus sylvatica). A common garden experiment was conducted to evaluate the quantitative genetic variation in growth and phenology of seedlings from 77 to 92 native populations of each species from across Switzerland. We used multivariate genecological models to associate population variation with past seed source climates, and to estimate relative risk of maladaptation to current and future climates based on key phenotypic traits and three regional climate projections within the A1B scenario. Current risks from climate change were similar to average risks from current seed transfer practices. For all three climate models, future risks increased in spruce and beech until the end of the century, but remained low in fir. Largest average risks associated with climate projections for the period 2061-2090 were found for spruce seedling height (0.64), and for beech bud break and leaf senescence (0.52 and 0.46). Future risks for spruce were high across Switzerland. However, areas of high risk were also found in drought-prone regions for beech and in the southern Alps for fir. Genetic maladaptation to future climates is likely to become a problem for spruce and beech by the end of this century, but probably not for fir. Consequently, forest management strategies should be adjusted in the study area for spruce and beech to maintain productive and healthy forests in the future. © 2017 John Wiley & Sons Ltd.

  11. Direct-to-consumer genetic testing: a systematic review of european guidelines, recommendations, and position statements.

    Science.gov (United States)

    Rafiq, Muhammad; Ianuale, Carolina; Ricciardi, Walter; Boccia, Stefania

    2015-10-01

    Personalized healthcare is expected to yield promising results, with a paradigm shift toward more personalization in the practice of medicine. This emerging field has wide-ranging implications for all the stakeholders. Commercial tests in the form of multiplex genetic profiles are currently being provided to consumers, without the physicians' consultation, through the Internet, referred to as direct-to-consumer genetic tests (DTC GT). The objective was to review all the existing European guidelines on DTC GT, and its associated interventions, to list all the supposed benefits and harms, issues and concerns, and recommendations. We conducted a systematic review of position statements, policies, guidelines, and recommendations, produced by professional organizations or other relevant bodies for use of DTC GT in Europe. Seventeen documents met the inclusion criteria, which were subjected to thematic analysis, and the texts were coded for statements related to use of DTC GT. Professional societies and associations are currently more suggestive of potential disadvantages of DTC GT, recommending improved genetic literacy of both populations and health professionals, and implementation research on the genetic tests to integrate public health genomics into healthcare systems.

  12. Mathematical Articles for the general public

    DEFF Research Database (Denmark)

    Hansen, Vagn Lundsgaard

    2003-01-01

    Report on an article competition for mathematical articles addressing the general public arranged by the European Mathematical Society.......Report on an article competition for mathematical articles addressing the general public arranged by the European Mathematical Society....

  13. Nineteenth century French rose (Rosa sp.) germplasm shows a shift over time from a European to an Asian genetic background.

    Science.gov (United States)

    Liorzou, Mathilde; Pernet, Alix; Li, Shubin; Chastellier, Annie; Thouroude, Tatiana; Michel, Gilles; Malécot, Valéry; Gaillard, Sylvain; Briée, Céline; Foucher, Fabrice; Oghina-Pavie, Cristiana; Clotault, Jérémy; Grapin, Agnès

    2016-08-01

    Hybridization with introduced genetic resources is commonly practiced in ornamental plant breeding to introgress desired traits. The 19th century was a golden age for rose breeding in France. The objective here was to study the evolution of rose genetic diversity over this period, which included the introduction of Asian genotypes into Europe. A large sample of 1228 garden roses encompassing the conserved diversity cultivated during the 18th and 19th centuries was genotyped with 32 microsatellite primer pairs. Its genetic diversity and structure were clarified. Wide diversity structured in 16 genetic groups was observed. Genetic differentiation was detected between ancient European and Asian accessions, and a temporal shift from a European to an Asian genetic background was observed in cultivated European hybrids during the 19th century. Frequent crosses with Asian roses throughout the 19th century and/or selection for Asiatic traits may have induced this shift. In addition, the consistency of the results with respect to a horticultural classification is discussed. Some horticultural groups, defined according to phenotype and/or knowledge of their pedigree, seem to be genetically more consistent than others, highlighting the difficulty of classifying cultivated plants. Therefore, the horticultural classification is probably more appropriate for commercial purposes rather than genetic relatedness, especially to define preservation and breeding strategies. © The Author 2016. Published by Oxford University Press on behalf of the Society for Experimental Biology.

  14. Ancient DNA from South-East Europe Reveals Different Events during Early and Middle Neolithic Influencing the European Genetic Heritage

    Science.gov (United States)

    Hervella, Montserrat; Rotea, Mihai; Izagirre, Neskuts; Constantinescu, Mihai; Alonso, Santos; Ioana, Mihai; Lazăr, Cătălin; Ridiche, Florin; Soficaru, Andrei Dorian; Netea, Mihai G.; de-la-Rua, Concepcion

    2015-01-01

    The importance of the process of Neolithization for the genetic make-up of European populations has been hotly debated, with shifting hypotheses from a demic diffusion (DD) to a cultural diffusion (CD) model. In this regard, ancient DNA data from the Balkan Peninsula, which is an important source of information to assess the process of Neolithization in Europe, is however missing. In the present study we show genetic information on ancient populations of the South-East of Europe. We assessed mtDNA from ten sites from the current territory of Romania, spanning a time-period from the Early Neolithic to the Late Bronze Age. mtDNA data from Early Neolithic farmers of the Starčevo Criş culture in Romania (Cârcea, Gura Baciului and Negrileşti sites), confirm their genetic relationship with those of the LBK culture (Linienbandkeramik Kultur) in Central Europe, and they show little genetic continuity with modern European populations. On the other hand, populations of the Middle-Late Neolithic (Boian, Zau and Gumelniţa cultures), supposedly a second wave of Neolithic migration from Anatolia, had a much stronger effect on the genetic heritage of the European populations. In contrast, we find a smaller contribution of Late Bronze Age migrations to the genetic composition of Europeans. Based on these findings, we propose that permeation of mtDNA lineages from a second wave of Middle-Late Neolithic migration from North-West Anatolia into the Balkan Peninsula and Central Europe represent an important contribution to the genetic shift between Early and Late Neolithic populations in Europe, and consequently to the genetic make-up of modern European populations. PMID:26053041

  15. Genetic architecture of ovary size and asymmetry in European honeybee workers.

    Science.gov (United States)

    Rueppell, O; Metheny, J D; Linksvayer, T; Fondrk, M K; Page, R E; Amdam, G V

    2011-05-01

    The molecular basis of complex traits is increasingly understood but a remaining challenge is to identify their co-regulation and inter-dependence. Pollen hoarding (pln) in honeybees is a complex trait associated with a well-characterized suite of linked behavioral and physiological traits. In European honeybee stocks bidirectionally selected for pln, worker (sterile helper) ovary size is pleiotropically affected by quantitative trait loci that were initially identified for their effect on foraging behavior. To gain a better understanding of the genetic architecture of worker ovary size in this model system, we analyzed a series of crosses between the selected strains. The crossing results were heterogeneous and suggested non-additive effects. Three significant and three suggestive quantitative trait loci of relatively large effect sizes were found in two reciprocal backcrosses. These loci are not located in genome regions of known effects on foraging behavior but contain several interesting candidate genes that may specifically affect worker-ovary size. Thus, the genetic architecture of this life history syndrome may be comprised of pleiotropic, central regulators that influence several linked traits and other genetic factors that may be downstream and trait specific.

  16. System network planning expansion using mathematical programming, genetic algorithms and tabu search

    Energy Technology Data Exchange (ETDEWEB)

    Sadegheih, A. [Department of Industrial Engineering, University of Yazd, P.O. Box 89195-741, Yazd (Iran); Drake, P.R. [E-Business and Operations Management Division, University of Liverpool Management School, University of Liverpool, Liverpool (United Kingdom)

    2008-06-15

    In this paper, system network planning expansion is formulated for mixed integer programming, a genetic algorithm (GA) and tabu search (TS). Compared with other optimization methods, GAs are suitable for traversing large search spaces, since they can do this relatively rapidly and because the use of mutation diverts the method away from local minima, which will tend to become more common as the search space increases in size. GA's give an excellent trade off between solution quality and computing time and flexibility for taking into account specific constraints in real situations. TS has emerged as a new, highly efficient, search paradigm for finding quality solutions to combinatorial problems. It is characterized by gathering knowledge during the search and subsequently profiting from this knowledge. The attractiveness of the technique comes from its ability to escape local optimality. The cost function of this problem consists of the capital investment cost in discrete form, the cost of transmission losses and the power generation costs. The DC load flow equations for the network are embedded in the constraints of the mathematical model to avoid sub-optimal solutions that can arise if the enforcement of such constraints is done in an indirect way. The solution of the model gives the best line additions and also provides information regarding the optimal generation at each generation point. This method of solution is demonstrated on the expansion of a 10 bus bar system to 18 bus bars. Finally, a steady-state genetic algorithm is employed rather than generational replacement, also uniform crossover is used. (author)

  17. Four questions on European consumers' attitudes to the use of genetic modification in food production

    DEFF Research Database (Denmark)

    Grunert, Klaus G.; Bredahl, Lone; Scholderer, Joachim

    2003-01-01

    Four questions on European consumers' attitudes to the use of genetic modification (GM) in food production are posed and answered: (1) how negative are consumer attitudes to GM applications in food production? (2) How do these attitudes affect perception of and preference for products involving GM...... guide the perception of food products involving the use of GM and lead to a range of sweeping negative associations which overshadow potential benefits perceived, that these negative attitudes are embedded in a system of more general attitudes, especially attitude to nature, to technology......, and alienation from the marketplace, implying that they are deeply rooted, and that they will not easily be changed by information. They may change, however, due to own experience with products produced using GM and involving clear consumer benefits....

  18. The experience of two European preimplantation genetic diagnosis centres on human leukocyte antigen typing.

    Science.gov (United States)

    Van de Velde, Hilde; De Rycke, Martine; De Man, Caroline; De Hauwere, Kim; Fiorentino, Francesco; Kahraman, Semra; Pennings, Guido; Verpoest, Willem; Devroey, Paul; Liebaers, Inge

    2009-03-01

    Two European centres report on human leukocyte antigen (HLA) typing of preimplantation embryos for haematopoietic stem cell (HSC) transplantation: 'UZ Brussel' in Brussels and 'Genoma' in Rome. Both centres have 6 years' experience with technical and clinical aspects of this type of genetic analysis on single blastomeres. Both centres apply a similar technique for preimplantation HLA typing using short tandem repeats linked to the HLA locus in multiplex PCR for haplotyping. At present, a conclusive HLA diagnosis could be assured in 92.8% and 90.3% of the embryos at UZ Brussel and at Genoma, respectively. The implantation rates were 32.4% and 28.2%, respectively, and the birth rates per cycle were 9.4% and 18.6%, respectively. The HLA programme at UZ Brussel and at Genoma resulted in the birth of 9 babies and 3 successful HSC transplantations, and 42 babies and 7 successful HSC transplantations, respectively, so far. Drastic embryo selection for preimplantation HLA typing (in theory 1/4 for HLA, 1/8 for HLA in combination with sexing for X-linked recessive diseases, 3/16 for HLA in combination with autosomal recessive disorders) resulted overall in the birth of 51 babies (15.9% live birth rate per started cycle) in two European centres.

  19. Persistent Genetic and Family-Wide Environmental Contributions to Early Number Knowledge and Later Achievement in Mathematics.

    Science.gov (United States)

    Garon-Carrier, Gabrielle; Boivin, Michel; Kovas, Yulia; Feng, Bei; Brendgen, Mara; Vitaro, Frank; Séguin, Jean R; Tremblay, Richard E; Dionne, Ginette

    2017-09-01

    This study investigated the stable and transient genetic and environmental contributions to individual differences in number knowledge in the transition from preschool (age 5) to Grade 1 (age 7) and to the predictive association between early number knowledge and later math achievement (age 10-12). We conducted genetic simplex modeling across these three time points. Genetic variance was transmitted from preschool number knowledge to late-elementary math achievement; in addition, significant genetic innovation (i.e., new influence) occurred at ages 10 through 12 years. The shared and nonshared environmental contributions decreased during the transition from preschool to school entry, but shared and nonshared environment contributed to the continuity across time from preschool number knowledge to subsequent number knowledge and math achievement. There was no new environmental contribution at time points subsequent to preschool. Results are discussed in light of their practical implications for children who have difficulties with mathematics, as well as for preventive intervention.

  20. TPO genetic variants and risk of differentiated thyroid carcinoma in two European populations.

    Science.gov (United States)

    Cipollini, Monica; Pastor, Susana; Gemignani, Federica; Castell, Juan; Garritano, Sonia; Bonotti, Alessandra; Biarnés, Josefina; Figlioli, Gisella; Romei, Cristina; Marcos, Ricard; Cristaudo, Alfonso; Elisei, Rossella; Landi, Stefano; Velázquez, Antonia

    2013-12-15

    Thyroid cancer risk involves the interaction of genetic and environmental factors. The thyroperoxidase (TPO) has a key role in the iodine metabolism, being essential for the thyroid function. Mutations in the TPO gene are common in congenital hypothyroidism, and there are also signs of the implication of TPO in thyroid cancer. We performed a case-control association study of genetic variants in TPO and differentiated thyroid carcinoma (DTC) in 1,586 DTC patients and 1,769 controls including two European populations (Italy: 1,190 DTC and 1,290 controls; Spain: 396 DTC and 479 controls). Multivariate logistic regression analyses were performed separately for each population and each single-nucleotide polymorphism (SNP). From the three studied polymorphisms, significant associations were detected between DTC and rs2048722 and rs732609 in both populations (p TPO polymorphism in the Italian and the Spanish populations. Our results, for the first time, point to TPO as a gene involved in the risk of DTC, and suggest the importance of interactions between TPO variants and other unidentified population-specific factors in determining thyroid cancer risk. Copyright © 2013 UICC.

  1. Genetic Aspects of Scurvy and the European Famine of 1845–1848

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    Michel R. Langlois

    2013-09-01

    Full Text Available The view of scurvy being exclusively a nutritional disorder needs to be updated. Genetic polymorphisms of HFE and haptoglobin (Hp may explain the geographic variability of mortality caused by the European famine of the mid-19th century. In this period, potatoes had fallen victim to the potato blight and Ireland was more severely hit than continental Europe. Hereditary hemochromatosis is a genetic disorder with mutations in the HFE gene, characterized by iron overload (with a reduced vitamin C stability and with a predominance of affected men. The Irish have the world’s highest frequency of the C282Y mutation and the particular iron metabolism of the Irish helps to understand the size of the catastrophe and the observed overrepresentation of male skeletons showing scurvy. Hp is a plasma α2-glycoprotein characterized by 3 common phenotypes (Hp 1-1, Hp 2-1 and Hp 2-2. When the antioxidant capacity of Hp is insufficient, its role is taken over by hemopexin and vitamin C. The relative number of scurvy victims corresponds with the Hp 2-2 frequency, which is associated with iron conservation and has an impact on vitamin C stability. As iron is more abundant in males, males are overrepresented in the group of skeletons showing scurvy signs.

  2. A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe

    Science.gov (United States)

    Khrunin, Andrey V.; Khokhrin, Denis V.; Filippova, Irina N.; Esko, Tõnu; Nelis, Mari; Bebyakova, Natalia A.; Bolotova, Natalia L.; Klovins, Janis; Nikitina-Zake, Liene; Rehnström, Karola; Ripatti, Samuli; Schreiber, Stefan; Franke, Andre; Macek, Milan; Krulišová, Veronika; Lubinski, Jan; Metspalu, Andres; Limborska, Svetlana A.

    2013-01-01

    Several studies examined the fine-scale structure of human genetic variation in Europe. However, the European sets analyzed represent mainly northern, western, central, and southern Europe. Here, we report an analysis of approximately 166,000 single nucleotide polymorphisms in populations from eastern (northeastern) Europe: four Russian populations from European Russia, and three populations from the northernmost Finno-Ugric ethnicities (Veps and two contrast groups of Komi people). These were compared with several reference European samples, including Finns, Estonians, Latvians, Poles, Czechs, Germans, and Italians. The results obtained demonstrated genetic heterogeneity of populations living in the region studied. Russians from the central part of European Russia (Tver, Murom, and Kursk) exhibited similarities with populations from central–eastern Europe, and were distant from Russian sample from the northern Russia (Mezen district, Archangelsk region). Komi samples, especially Izhemski Komi, were significantly different from all other populations studied. These can be considered as a second pole of genetic diversity in northern Europe (in addition to the pole, occupied by Finns), as they had a distinct ancestry component. Russians from Mezen and the Finnic-speaking Veps were positioned between the two poles, but differed from each other in the proportions of Komi and Finnic ancestries. In general, our data provides a more complete genetic map of Europe accounting for the diversity in its most eastern (northeastern) populations. PMID:23505534

  3. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

    Science.gov (United States)

    Harper, Joyce C; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather; Soini, Sirpa; Spits, Claudia; Veiga, Anna; Vermeesch, Joris Robert; Viville, Stéphane; de Wert, Guido; Macek, Milan

    2013-11-01

    In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide

  4. Genetic variation of european maize genotypes (zea mays l. Detected using ssr markers

    Directory of Open Access Journals (Sweden)

    Martin Vivodík

    2017-01-01

    Full Text Available The SSR molecular markers were used to assess genetic diversity in 40 old European maize genotypes. Ten SSR primers revealed a total of 65 alleles ranging from 4 (UMC1060 to 8 (UMC2002 and UMC1155 alleles per locus with a mean value of 6.50 alleles per locus. The PIC values ranged from 0.713 (UMC1060 to 0.842 (UMC2002 with an average value of 0.810 and the DI value ranged from 0.734 (UMC1060 to 0.848 (UMC2002 with an average value of 0.819. 100% of used SSR markers had PIC and DI values higher than 0.7 that means high polymorphism of chosen markers used for analysis. Probability of identity (PI was low ranged from 0.004 (UMC1072 to 0.022 (UMC1060 with an average of 0.008. A dendrogram was constructed from a genetic distance matrix based on profiles of the 10 maize SSR loci using the unweighted pair-group method with the arithmetic average (UPGMA. According to analysis, the collection of 40 diverse accessions of maize was clustered into four clusters. The first cluster contained nine genotypes of maize, while the second cluster contained the four genotypes of maize. The third cluster contained 5 maize genotypes. Cluster 4 contained five genotypes from Hungary (22.73%, two genotypes from Poland (9.10%, seven genotypes of maize from Union of Soviet Socialist Republics (31.81%, six genotypes from Czechoslovakia (27.27%, one genotype from Slovak Republic (4.55% and one genotype of maize is from Yugoslavia (4.55%. We could not distinguish 4 maize genotypes grouped in cluster 4, (Voroneskaja and Kocovska Skora and 2 Hungarian maize genotypes - Feheres Sarga Filleres and Mindszentpusztai Feher, which are genetically the closest.

  5. Autumn-winter diet of three carnivores, European mink (Mustela lutreola, Eurasian otter (Lutra lutra and small-spotted genet (Genetta genetta, in northern Spain

    Directory of Open Access Journals (Sweden)

    Palazón, S.

    2008-12-01

    Full Text Available This study describes the autumn-winter diet of three carnivores (Mustela lutreola, Lutra lutra and Genetta genetta in northern Spain. Diet composition was analysed from 85 European mink, 156 otter and 564 spotted genet fecal samples The European mink diet was based on small mammals (relative frequency of occurrences 38.1%, fish (30.9% and birds (16.7%. Spotted genet consumed mainly small mammals, birds and fruits, whilst otter predated practically only fish (95%. Using Levins’ index, trophic-niche widths in European mink, small-spotted genet and Eurasian otter were 3.76, 3.77 and 1.10, respectively. The trophic niche overlap by Pianka index for autumn-winter was 0.77 for European mink vs. Small-spotted genet, and 0.60 for European mink vs. otter. The average size of brown trout taken by otter was larger than those consumed by European mink.

  6. Shared additive genetic influences on DSM-IV criteria for alcohol dependence in subjects of European ancestry.

    Science.gov (United States)

    Palmer, Rohan H C; McGeary, John E; Heath, Andrew C; Keller, Matthew C; Brick, Leslie A; Knopik, Valerie S

    2015-12-01

    Genetic studies of alcohol dependence (AD) have identified several candidate loci and genes, but most observed effects are small and difficult to reproduce. A plausible explanation for inconsistent findings may be a violation of the assumption that genetic factors contributing to each of the seven DSM-IV criteria point to a single underlying dimension of risk. Given that recent twin studies suggest that the genetic architecture of AD is complex and probably involves multiple discrete genetic factors, the current study employed common single nucleotide polymorphisms in two multivariate genetic models to examine the assumption that the genetic risk underlying DSM-IV AD is unitary. AD symptoms and genome-wide single nucleotide polymorphism (SNP) data from 2596 individuals of European descent from the Study of Addiction: Genetics and Environment were analyzed using genomic-relatedness-matrix restricted maximum likelihood. DSM-IV AD symptom covariance was described using two multivariate genetic factor models. Common SNPs explained 30% (standard error=0.136, P=0.012) of the variance in AD diagnosis. Additive genetic effects varied across AD symptoms. The common pathway model approach suggested that symptoms could be described by a single latent variable that had a SNP heritability of 31% (0.130, P=0.008). Similarly, the exploratory genetic factor model approach suggested that the genetic variance/covariance across symptoms could be represented by a single genetic factor that accounted for at least 60% of the genetic variance in any one symptom. Additive genetic effects on DSM-IV alcohol dependence criteria overlap. The assumption of common genetic effects across alcohol dependence symptoms appears to be a valid assumption. © 2015 Society for the Study of Addiction.

  7. Who Is Afraid of Math? Two Sources of Genetic Variance for Mathematical Anxiety

    Science.gov (United States)

    Wang, Zhe; Hart, Sara Ann; Kovas, Yulia; Lukowski, Sarah; Soden, Brooke; Thompson, Lee A.; Plomin, Robert; McLoughlin, Grainne; Bartlett, Christopher W.; Lyons, Ian M.; Petrill, Stephen A.

    2014-01-01

    Background: Emerging work suggests that academic achievement may be influenced by the management of affect as well as through efficient information processing of task demands. In particular, mathematical anxiety has attracted recent attention because of its damaging psychological effects and potential associations with mathematical problem solving…

  8. Mathematics Is Differentially Related to Reading Comprehension and Word Decoding: Evidence from a Genetically Sensitive Design

    Science.gov (United States)

    Harlaar, Nicole; Kovas, Yulia; Dale, Philip S.; Petrill, Stephen A.; Plomin, Robert

    2012-01-01

    Although evidence suggests that individual differences in reading and mathematics skills are correlated, this relationship has typically only been studied in relation to word decoding or global measures of reading. It is unclear whether mathematics is differentially related to word decoding and reading comprehension. In the current study, the…

  9. European Mathematical Summer School

    CERN Document Server

    Yakubovich, Yuri

    2003-01-01

    At the Summer School Saint Petersburg 2001, the main lecture courses bore on recent progress in asymptotic representation theory: those written up for this volume deal with the theory of representations of infinite symmetric groups, and groups of infinite matrices over finite fields; Riemann-Hilbert problem techniques applied to the study of spectra of random matrices and asymptotics of Young diagrams with Plancherel measure; the corresponding central limit theorems; the combinatorics of modular curves and random trees with application to QFT; free probability and random matrices, and Hecke algebras.

  10. The ABCs of Math: A Genetic Analysis of Mathematics and Its Links With Reading Ability and General Cognitive Ability.

    Science.gov (United States)

    Hart, Sara A; Petrill, Stephen A; Thompson, Lee A; Plomin, Robert

    2009-05-01

    The goal of this first major report from the Western Reserve Reading Project Math component is to explore the etiology of the relationship among tester-administered measures of mathematics ability, reading ability, and general cognitive ability. Data are available on 314 pairs of monozygotic and same-sex dizygotic twins analyzed across 5 waves of assessment. Univariate analyses provide a range of estimates of genetic (h(2) = .00 -.63) and shared (c(2) = .15-.52) environmental influences across math calculation, fluency, and problem solving measures. Multivariate analyses indicate genetic overlap between math problem solving with general cognitive ability and reading decoding, whereas math fluency shares significant genetic overlap with reading fluency and general cognitive ability. Further, math fluency has unique genetic influences. In general, math ability has shared environmental overlap with general cognitive ability and decoding. These results indicate that aspects of math that include problem solving have different genetic and environmental influences than math calculation. Moreover, math fluency, a timed measure of calculation, is the only measured math ability with unique genetic influences.

  11. Ethical aspects of research into Alzheimer disease. A European Delphi Study focused on genetic and non-genetic research.

    Science.gov (United States)

    van der Vorm, A; Vernooij-Dassen, M J F J; Kehoe, P G; Olde Rikkert, M G M; van Leeuwen, E; Dekkers, W J M

    2009-02-01

    Although genetic research into Alzheimer disease (AD) is increasing, the ethical aspects of this kind of research and the differences between ethical issues related to genetic and non-genetic research into AD have not yet received much attention. (1) To identify and compare the five ethical issues considered most important by surveyed expert panellists in non-genetic and genetic AD research and (2) to compare our empirical findings with ethical issues in genetic research in general as described in the literature. A modified Delphi study in two rounds Genetic and non-genetic research into AD generated an approximately equal number of topics with a considerable overlap. Different priorities in the ethics of both types of research were found. Genetic research raised new topics such as "confidentiality of genetic information" and "implications of research for relatives" which changes the impact and application of existing ethical topics such as "informed consent" and is judged to have more impact on both individuals and society. A difference with the results of more theoretical approaches on ethical aspects related to AD research was also found. Different priorities are given to ethical issues in genetic and non-genetic research. These arise partly because genetic research causes unique and new questions, mostly related to the position of family members and the status of and access to genetic information. Differences found between the results of our empirical study and the more theoretical literature, suggest an additional value for empirical research in medical ethics.

  12. The European Court legitimates access of Italian couples to assisted reproductive techniques and to pre-implantation genetic diagnosis.

    Science.gov (United States)

    Turillazzi, Emanuela; Frati, Paola; Busardò, Francesco Paolo; Gulino, Matteo; Fineschi, Vittorio

    2015-07-01

    On 28 August 2012, the European Court of Human Rights (ECHR) issued a judgment regarding the requirements for the legitimate access of couples to assisted reproductive techniques (ART) and to pre-implantation genetic diagnosis (PGD). This judgment concerns the case of an Italian couple who found out after their first child was born with cystic fibrosis that they were healthy carriers of the disease. When the woman became pregnant again in 2010 and underwent fetal screening, it was found that the unborn child also had cystic fibrosis, whereupon she had the pregnancy terminated on medical grounds. In order to have the embryo genetically screened prior to implantation under the procedure of PGD, the couple sought to use in vitro fertilisation to have another child. Since article 1 of the Italian law strictly limits access to ART to sterile/infertile couples or those in which the man has a sexually transmissible disease, the couple appealed to the European court, raising the question of the violation of articles 8 and 14 of the European Convention on Human Rights. The applicants lodged a complaint that they were not allowed legitimate access to ART and to PGD to select an embryo not affected by the disease. The European Court affirmed that the prohibition imposed by Italian law violated article 8 of the European Convention on Human Rights. Focusing on important regulatory and legal differences among EU Nations in providing ART treatments and PGD, we derived some important similarities and differences. © The Author(s) 2014.

  13. Cross-species amplification of 41 microsatellites in European cyprinids: A tool for evolutionary, population genetics and hybridization studies

    Directory of Open Access Journals (Sweden)

    Gilles André

    2010-05-01

    Full Text Available Abstract Background Cyprinids display the most abundant and widespread species among the European freshwater Teleostei and are known to hybridize quite commonly. Nevertheless, a limited number of markers for conducting comparative differentiation, evolutionary and hybridization dynamics studies are available to date. Findings Five multiplex PCR sets were optimized in order to assay 41 cyprinid-specific polymorphic microsatellite loci (including 10 novel loci isolated from Chondrostoma nasus nasus, Chondrostoma toxostoma toxostoma and Leuciscus leuciscus for 503 individuals (440 purebred specimens and 63 hybrids from 15 European cyprinid species. The level of genetic diversity was assessed in Alburnus alburnus, Alburnoides bipunctatus, C. genei, C. n. nasus, C. soetta, C. t. toxostoma, L. idus, L. leuciscus, Pachychilon pictum, Rutilus rutilus, Squalius cephalus and Telestes souffia. The applicability of the markers was also tested on Abramis brama, Blicca bjoerkna and Scardinius erythrophtalmus specimens. Overall, between 24 and 37 of these markers revealed polymorphic for the investigated species and 23 markers amplified for all the 15 European cyprinid species. Conclusions The developed set of markers demonstrated its performance in discriminating European cyprinid species. Furthermore, it allowed detecting and characterizing hybrid individuals. These microsatellites will therefore be useful to perform comparative evolutionary and population genetics studies dealing with European cyprinids, what is of particular interest in conservation issues and constitutes a tool of choice to conduct hybridization studies.

  14. Effects of hybridization and evolutionary constraints on secondary metabolites: the genetic architecture of phenylpropanoids in European populus species.

    Directory of Open Access Journals (Sweden)

    Celine Caseys

    Full Text Available The mechanisms responsible for the origin, maintenance and evolution of plant secondary metabolite diversity remain largely unknown. Decades of phenotypic studies suggest hybridization as a key player in generating chemical diversity in plants. Knowledge of the genetic architecture and selective constraints of phytochemical traits is key to understanding the effects of hybridization on plant chemical diversity and ecological interactions. Using the European Populus species P. alba (White poplar and P. tremula (European aspen and their hybrids as a model, we examined levels of inter- and intraspecific variation, heritabilities, phenotypic correlations, and the genetic architecture of 38 compounds of the phenylpropanoid pathway measured by liquid chromatography and mass spectrometry (UHPLC-MS. We detected 41 quantitative trait loci (QTL for chlorogenic acids, salicinoids and flavonoids by genetic mapping in natural hybrid crosses. We show that these three branches of the phenylpropanoid pathway exhibit different geographic patterns of variation, heritabilities, and genetic architectures, and that they are affected differently by hybridization and evolutionary constraints. Flavonoid abundances present high species specificity, clear geographic structure, and strong genetic determination, contrary to salicinoids and chlorogenic acids. Salicinoids, which represent important defence compounds in Salicaceae, exhibited pronounced genetic correlations on the QTL map. Our results suggest that interspecific phytochemical differentiation is concentrated in downstream sections of the phenylpropanoid pathway. In particular, our data point to glycosyltransferase enzymes as likely targets of rapid evolution and interspecific differentiation in the 'model forest tree' Populus.

  15. Effects of Hybridization and Evolutionary Constraints on Secondary Metabolites: The Genetic Architecture of Phenylpropanoids in European Populus Species

    Science.gov (United States)

    Caseys, Celine; Stritt, Christoph; Glauser, Gaetan; Blanchard, Thierry; Lexer, Christian

    2015-01-01

    The mechanisms responsible for the origin, maintenance and evolution of plant secondary metabolite diversity remain largely unknown. Decades of phenotypic studies suggest hybridization as a key player in generating chemical diversity in plants. Knowledge of the genetic architecture and selective constraints of phytochemical traits is key to understanding the effects of hybridization on plant chemical diversity and ecological interactions. Using the European Populus species P. alba (White poplar) and P. tremula (European aspen) and their hybrids as a model, we examined levels of inter- and intraspecific variation, heritabilities, phenotypic correlations, and the genetic architecture of 38 compounds of the phenylpropanoid pathway measured by liquid chromatography and mass spectrometry (UHPLC-MS). We detected 41 quantitative trait loci (QTL) for chlorogenic acids, salicinoids and flavonoids by genetic mapping in natural hybrid crosses. We show that these three branches of the phenylpropanoid pathway exhibit different geographic patterns of variation, heritabilities, and genetic architectures, and that they are affected differently by hybridization and evolutionary constraints. Flavonoid abundances present high species specificity, clear geographic structure, and strong genetic determination, contrary to salicinoids and chlorogenic acids. Salicinoids, which represent important defence compounds in Salicaceae, exhibited pronounced genetic correlations on the QTL map. Our results suggest that interspecific phytochemical differentiation is concentrated in downstream sections of the phenylpropanoid pathway. In particular, our data point to glycosyltransferase enzymes as likely targets of rapid evolution and interspecific differentiation in the ‘model forest tree’ Populus. PMID:26010156

  16. Effects of hybridization and evolutionary constraints on secondary metabolites: the genetic architecture of phenylpropanoids in European populus species.

    Science.gov (United States)

    Caseys, Celine; Stritt, Christoph; Glauser, Gaetan; Blanchard, Thierry; Lexer, Christian

    2015-01-01

    The mechanisms responsible for the origin, maintenance and evolution of plant secondary metabolite diversity remain largely unknown. Decades of phenotypic studies suggest hybridization as a key player in generating chemical diversity in plants. Knowledge of the genetic architecture and selective constraints of phytochemical traits is key to understanding the effects of hybridization on plant chemical diversity and ecological interactions. Using the European Populus species P. alba (White poplar) and P. tremula (European aspen) and their hybrids as a model, we examined levels of inter- and intraspecific variation, heritabilities, phenotypic correlations, and the genetic architecture of 38 compounds of the phenylpropanoid pathway measured by liquid chromatography and mass spectrometry (UHPLC-MS). We detected 41 quantitative trait loci (QTL) for chlorogenic acids, salicinoids and flavonoids by genetic mapping in natural hybrid crosses. We show that these three branches of the phenylpropanoid pathway exhibit different geographic patterns of variation, heritabilities, and genetic architectures, and that they are affected differently by hybridization and evolutionary constraints. Flavonoid abundances present high species specificity, clear geographic structure, and strong genetic determination, contrary to salicinoids and chlorogenic acids. Salicinoids, which represent important defence compounds in Salicaceae, exhibited pronounced genetic correlations on the QTL map. Our results suggest that interspecific phytochemical differentiation is concentrated in downstream sections of the phenylpropanoid pathway. In particular, our data point to glycosyltransferase enzymes as likely targets of rapid evolution and interspecific differentiation in the 'model forest tree' Populus.

  17. Genetic programming-based mathematical modeling of influence of weather parameters in BOD5removal by Lemna minor.

    Science.gov (United States)

    Chandrasekaran, Sivapragasam; Sankararajan, Vanitha; Neelakandhan, Nampoothiri; Ram Kumar, Mahalakshmi

    2017-11-04

    This study, through extensive experiments and mathematical modeling, reveals that other than retention time and wastewater temperature (T w ), atmospheric parameters also play important role in the effective functioning of aquatic macrophyte-based treatment system. Duckweed species Lemna minor is considered in this study. It is observed that the combined effect of atmospheric temperature (T atm ), wind speed (U w ), and relative humidity (RH) can be reflected through one parameter, namely the "apparent temperature" (T a ). A total of eight different models are considered based on the combination of input parameters and the best mathematical model is arrived at which is validated through a new experimental set-up outside the modeling period. The validation results are highly encouraging. Genetic programming (GP)-based models are found to reveal deeper understandings of the wetland process.

  18. High Genetic Diversity of Measles Virus, World Health Organization European Region, 2005–2006

    Science.gov (United States)

    Brown, Kevin E.; Jin, Li; Santibanez, Sabine; Shulga, Sergey V.; Aboudy, Yair; Demchyshyna, Irina V.; Djemileva, Sultana; Echevarria, Juan E.; Featherstone, David F.; Hukic, Mirsada; Johansen, Kari; Litwinska, Bogumila; Lopareva, Elena; Lupulescu, Emilia; Mentis, Andreas; Mihneva, Zefira; Mosquera, Maria M.; Muscat, Mark; Naumova, M.A.; Nedeljkovic, Jasminka; Nekrasova, Ljubov S.; Magurano, Fabio; Fortuna, Claudia; Rebelo de Andrade, Helena; Richard, Jean-Luc; Robo, Alma; Rota, Paul A.; Samoilovich, Elena O.; Sarv, Inna; Semeiko, Galina V.; Shugayev, Nazim; Utegenova, Elmira S.; van Binnendijk, Rob; Vinner, Lasse; Waku-Kouomou, Diane; Wild, T. Fabian; Brown, David W.G.; Mankertz, Annette; Muller, Claude P.; Mulders, Mick N.

    2008-01-01

    During 2005–2006, nine measles virus (MV) genotypes were identified throughout the World Health Organization European Region. All major epidemics were associated with genotypes D4, D6, and B3. Other genotypes (B2, D5, D8, D9, G2, and H1) were only found in limited numbers of cases after importation from other continents. The genetic diversity of endemic D6 strains was low; genotypes C2 and D7, circulating in Europe until recent years, were no longer identified. The transmission chains of several indigenous MV strains may thus have been interrupted by enhanced vaccination. However, multiple importations from Africa and Asia and virus introduction into highly mobile and unvaccinated communities caused a massive spread of D4 and B3 strains throughout much of the region. Thus, despite the reduction of endemic MV circulation, importation of MV from other continents caused prolonged circulation and large outbreaks after their introduction into unvaccinated and highly mobile communities. PMID:18258089

  19. Genetic risk score and cardiovascular mortality in a southern european population with coronary artery disease.

    Science.gov (United States)

    Pereira, Andreia; Mendonca, Maria Isabel; Sousa, Ana Célia; Borges, Sofia; Freitas, Sónia; Henriques, Eva; Rodrigues, Mariana; Freitas, Ana Isabel; Guerra, Graça; Ornelas, Ilídio; Pereira, Décio; Brehm, António; Palma Dos Reis, Roberto

    2017-06-01

    Several genetic risk scores (GRS) have been associated with cardiovascular disease; their role, however, in survival from proven coronary artery disease (CAD) have yielded conflicting results. The objective of this study was to evaluate long-term cardiovascular mortality according to the genetic risk score in a Southern European population with CAD. A cohort of 1464 CAD patients with angiographic proven CAD were followed up prospectively for up to 58.3 (interquartile range: 25.8-88.1) months. Genotyping of 32 single-nucleotide polymorphisms previously associated with CAD was performed using oligonucleotides probes marked with fluorescence for each allele. GRS was constructed according to the additive model assuming codominance and categorised using the median (=26). Cox Regression analysis was performed to determine independent multivariate predictors of cardiovascular mortality. Kaplan-Meier survival curves compared high vs low GRS using log-rank test. C-index was done for our population, as a measure of discrimination in survival analysis model. During a mean follow-up of 58.3 months, 156 patients (10.7%) died, 107 (7.3%) of CV causes. High GRS (≥26) was associated with reduced cardiovascular survival. Survival analysis with Cox regression model adjusted for 8 variables showed that high GRS, dyslipidemia, diabetes and 3-vessel disease were independent risk factors for cardiovascular mortality (HR=1.53, P=.037; HR=3.64, P=.012; HR=1.75, P=.004; HR=2.97, P<.0001, respectively). At the end of follow-up, the estimated survival probability was 70.8% for high GRS and 80.8% for low GRS (Log-rank test 5.6; P=.018). C-Index of 0.71 was found when GRS was added to a multivariate survival model of diabetes, dyslipidemia, smoking, hypertension and 3 vessel disease, stable angina and dual antiplatelet therapy. Besides the classical risk factors management, this work highlights the relevance of the genetic profile in survival from CAD. It is expected that new therapies will

  20. Ethical aspects of research into Alzheimer disease. A European Delphi Study focused on genetic and non-genetic research.

    NARCIS (Netherlands)

    Vorm, A. van der; Vernooij-Dassen, M.J.F.J.; Kehoe, P.G.; Olde Rikkert, M.G.M.; Leeuwen, E. van; Dekkers, W.J.M.

    2009-01-01

    BACKGROUND: Although genetic research into Alzheimer disease (AD) is increasing, the ethical aspects of this kind of research and the differences between ethical issues related to genetic and non-genetic research into AD have not yet received much attention. OBJECTIVES: (1) To identify and compare

  1. Broad-scale latitudinal patterns of genetic diversity among native European and introduced house sparrow (Passer domesticus) populations.

    Science.gov (United States)

    Schrey, A W; Grispo, M; Awad, M; Cook, M B; McCoy, E D; Mushinsky, H R; Albayrak, T; Bensch, S; Burke, T; Butler, L K; Dor, R; Fokidis, H B; Jensen, H; Imboma, T; Kessler-Rios, M M; Marzal, A; Stewart, I R K; Westerdahl, H; Westneat, D F; Zehtindjiev, P; Martin, L B

    2011-03-01

    Introduced species offer unique opportunities to study evolution in new environments, and some provide opportunities for understanding the mechanisms underlying macroecological patterns. We sought to determine how introduction history impacted genetic diversity and differentiation of the house sparrow (Passer domesticus), one of the most broadly distributed bird species. We screened eight microsatellite loci in 316 individuals from 16 locations in the native and introduced ranges. Significant population structure occurred between native than introduced house sparrows. Introduced house sparrows were distinguished into one North American group and a highly differentiated Kenyan group. Genetic differentiation estimates identified a high magnitude of differentiation between Kenya and all other populations, but demonstrated that European and North American samples were differentiated too. Our results support previous claims that introduced North American populations likely had few source populations, and indicate house sparrows established populations after introduction. Genetic diversity also differed among native, introduced North American, and Kenyan populations with Kenyan birds being least diverse. In some cases, house sparrow populations appeared to maintain or recover genetic diversity relatively rapidly after range expansion (genetic diversity exhibited large-scale geographic patterns, increasing towards the equator. Such patterns of genetic diversity are concordant with two previously described models of genetic diversity, the latitudinal model and the species diversity model. © 2011 Blackwell Publishing Ltd.

  2. Population Genetics of European Anchovy (Engraulis encrasicolus L. in the Seas of Turkey Based on Microsatellite DNA

    Directory of Open Access Journals (Sweden)

    Fevzi Bardakci

    2014-06-01

    Results: In this study, 13 microsatellite loci in 541 samples were analysed for determination of genetic structure of anchovy along Turkish coasts. The genetic variability was high among population, the average alleles numbers per locus per population ranged from 11.0 to 22.8. Observed heterozygosity per population was ranged from 0.612 (Mersin to 0.733 (İstanbul while expected heterozygosity was ranged from 0.774 (Mersin to 0.823 (Perşembe. The highest genetic distance was found between Antalya and Trabzon populations (FST=0.06949, the lowest between Antalya and İskenderun populations (0,00010. Analyses of 13 microsatellite loci were showed that there was low population structuring among all anchovy population (Fst: 0,024; SE 0,005. Although high genetic diversities was detected, for most loci with most populations were showed Hardy-Weinberg disequilibrium. Genetic distance analyses showed up Mediterranean specimens were highly distinct from Aegean and Black sea populations. Aegean populations were closer to Black sea populations because of higher gene flow between them rather than Mediterranean. A STRUCTURE computer program was indicated the presence of four possible genetic groups in Turkish territorial waters. Conclusions: Data to obtained from this study has found useful for the identification of genetic structuring of European anchovy distributed along the coasts of Turkish Seas. Results are also useful for planning of fishery management of anchovies in Turkey.

  3. Conceptual Incongruence between Prion Disease and Genetic Diversity in Ovine Species within European Union defined by Informational Statistics Terms

    Directory of Open Access Journals (Sweden)

    Gheorghe Hrinca

    2016-11-01

    Full Text Available Biodiversity and the studies of spongiform encephalopathies in the farm animals are highly topical concerns of the contemporary scientific world. Both themes are very interesting for the life sciences and very important for the application field of animal breeding. The implementation of these two concepts creates an antithetical paradigm: the achievement of genetic prophylaxis joins with the decrease of genetic diversity. The paper examines the genetic diversity and its evolution in sheep livestock from the European space in the context in which the European Community has developed very laborious and costly programs targeted both for conservation and enhancement of biodiversity and to eradicate the scrapie in small ruminants. This paper utilises a precise method to quantify the genetic biodiversity in all sheep populations in Europe by a modern concept derived from informational statistics - informational energy. In addition, the paper proposes concrete and viable solutions to achieve these two desiderata at optimal levels in connection with a perfect perspicacity of sheep breeder which consists in accuracy of the reproduction process and correct application of the selection criteria.

  4. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

    National Research Council Canada - National Science Library

    Charron, Philippe; Arad, Michael; Arbustini, Eloisa; Basso, Cristina; Bilinska, Zofia; Elliott, Perry; Helio, Tiina; Keren, Ane; McKenna, William J; Monserrat, Lorenzo; Pankuweit, Sabine; Perrot, Aneas; Rapezzi, Claudio; Ristic, Arsen; Seggewiss, Hubert; van Langen, Irene; Tavazzi, Luigi

    2010-01-01

    .... The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general issues related to genetic counselling, family...

  5. Potential Population Genetic Consequences of Habitat Fragmentation in Central European Forest Trees and Associated Understorey Species—An Introductory Survey

    Directory of Open Access Journals (Sweden)

    Christoph Dobeš

    2017-02-01

    Full Text Available Habitat fragmentation threatens the maintenance of genetic diversity of affected populations. Assessment of the risks associated with habitat fragmentation is a big challenge as the change in population genetic diversity is a dynamic process, often acting over long time periods and depending on various characteristics pertaining to both species (life history traits and their populations (extrinsic characteristics. With this survey, we provide an introductory overview for persons who have to make or are interested in making predictions about the fate of forest-dwelling plant populations which have recently become fragmented and isolated from their main occurrences. We provide a concise introduction to the field of population genetics focusing on terms, processes and phenomena relevant to the maintenance of genetic diversity and vitality of plant populations. In particular the antagonistic effects of gene flow and random genetic drift are covered. A special chapter is devoted to Central European tree species (including the Carpathians which we treat in detail with reference to an extensive literature survey on population genetic studies assembled from the whole of Europe. We further provide an overview of the population biology of associated understorey species. We conclude with recommended steps to be taken for the evaluation of potential perils of habitat fragmentation or population thinning for the genetics of tree populations. The complexity of effects exerted by life history traits and extrinsic characteristics of populations suggest population genetic development is strongly situation dependent. Therefore, we recommend following a case-by-case approach ideally supported by computer simulations to predict future population genetic development of both trees and associated understorey species.

  6. Autumn-winter diet of three carnivores, European mink (Mustela lutreola), Eurasian otter (Lutra lutra) and small-spotted genet (Genetta genetta), in northern Spain

    OpenAIRE

    Palazón, S.; Ruiz-Olmo, J.; Gosálbez, J.

    2008-01-01

    This study describes the autumn-winter diet of three carnivores (Mustela lutreola, Lutra lutra and Genetta genetta) in northern Spain. Diet composition was analysed from 85 European mink, 156 otter and 564 spotted genet fecal samples The European mink diet was based on small mammals (relative frequency of occurrences 38.1%), fish (30.9%) and birds (16.7%). Spotted genet consumed mainly small mammals, birds and fruits, whilst otter predated practically only fish (95%). Using Levins’ index, tro...

  7. The genetic diversity of European type PRRSV is similar to that of the North American type but is geographically skewed within Europe

    DEFF Research Database (Denmark)

    Forsberg, R.; Storgaard, Torben; Nielsen, Henriette S.

    2002-01-01

    nucleotide diversity in the European genotype. Here, we analyzed the ORF5 and ORF7 genes for a large number of new European type PRRSV isolates in conjunction with existing database sequences. This new analysis showed that contrary to previous assumptions, genetic diversity is at least as high...

  8. Principles for the risk assessment of genetically modified microorganisms and their food products in the European Union.

    Science.gov (United States)

    Aguilera, Jaime; Gomes, Ana R; Olaru, Irina

    2013-10-01

    Genetically modified microorganisms (GMMs) are involved in the production of a variety of food and feed. The release and consumption of these products can raise questions about health and environmental safety. Therefore, the European Union has different legislative instruments in place in order to ensure the safety of such products. A key requirement is to conduct a scientific risk assessment as a prerequisite for the product to be placed on the market. This risk assessment is performed by the European Food Safety Authority (EFSA), through its Scientific Panels. The EFSA Panel on Genetically Modified Organisms has published complete and comprehensive guidance for the risk assessment of GMMs and their products for food and/or feed use, in which the strategy and the criteria to conduct the assessment are explained, as well as the scientific data to be provided in applications for regulated products. This Guidance follows the main risk assessment principles developed by various international organisations (Codex Alimentarius, 2003; OECD, 2010). The assessment considers two aspects: the characterisation of the GMM and the possible effects of its modification with respect to safety, and the safety of the product itself. Due to the existing diversity of GMMs and their products, a categorisation is recommended to optimise the assessment and to determine the extent of the required data. The assessment starts with a comprehensive characterisation of the GMM, covering the recipient/parental organism, the donor(s) of the genetic material, the genetic modification, and the final GMM and its phenotype. Evaluation of the composition, potential toxicity and/or allergenicity, nutritional value and environmental impact of the product constitute further cornerstones of the process. The outcome of the assessment is reflected in a scientific opinion which indicates whether the product raises any safety issues. This opinion is taken into account by the different European regulatory

  9. Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis

    NARCIS (Netherlands)

    Dequeker, E; Cuppens, H; Dodge, J; Estivill, [No Value; Goossens, M; Pignatti, PF; Scheffer, H; Schwartz, M; Schwarz, M; Tummler, B; Cassiman, JJ

    These recommendations for quality improvement of cystic fibrosis genetic diagnostic testing provide general guidelines for the molecular genetic testing of cystic fibrosis in patients/individuals. General strategies for testing as well as guidelines for laboratory procedures, internal and external

  10. Structural and temporal variation in the genetic diversity of a European collection of spring two-row barley cultivars and utility for association mapping of quantitative traits

    DEFF Research Database (Denmark)

    Tondelli, Alessandro; Xu, Xin; Moragues, Marc

    2013-01-01

    nucleotide polymorphism markers and corresponding field trial trait data relating to growth and straw strength were obtained at multiple European sites. Analysis of the marker data by statistical population genetics approaches revealed two important trends in the genetic diversity of European two-row spring...... the traits investigated, some of which co-map with selected regions. Collectively, these data show that the genetic makeup of European two-row spring barley is evolving under breeder selection, with signs of extinction of diversity in some genomic regions, suggesting that “breeding the best with the best......” is leading towards fixation of some breeder targets. Nevertheless, modern germplasm also retains many regions of high diversity, suggesting that site-specific genetic approaches for allele identification and crop improvement such as association genetics are likely to be successful....

  11. Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.

    Science.gov (United States)

    Deo, Rahul C; Reich, David; Tandon, Arti; Akylbekova, Ermeg; Patterson, Nick; Waliszewska, Alicja; Kathiresan, Sekar; Sarpong, Daniel; Taylor, Herman A; Wilson, James G

    2009-01-01

    Genome-wide association analysis in populations of European descent has recently found more than a hundred genetic variants affecting risk for common disease. An open question, however, is how relevant the variants discovered in Europeans are to other populations. To address this problem for cardiovascular phenotypes, we studied a cohort of 4,464 African Americans from the Jackson Heart Study (JHS), in whom we genotyped both a panel of 12 recently discovered genetic variants known to predict lipid profile levels in Europeans and a panel of up to 1,447 ancestry informative markers allowing us to determine the African ancestry proportion of each individual at each position in the genome. Focusing on lipid profiles -- HDL-cholesterol (HDL-C), LDL-cholesterol (LDL-C), and triglycerides (TG) -- we identified the lipoprotein lipase (LPL) locus as harboring variants that account for interethnic variation in HDL-C and TG. In particular, we identified a novel common variant within LPL that is strongly associated with TG (p = 2.7 x 10(-6)) and explains nearly 1% of the variability in this phenotype, the most of any variant in African Americans to date. Strikingly, the extensively studied "gain-of-function" S447X mutation at LPL, which has been hypothesized to be the major determinant of the LPL-TG genetic association and is in trials for human gene therapy, has a significantly diminished strength of biological effect when it is found on a background of African rather than European ancestry. These results suggest that there are other, yet undiscovered variants at the locus that are truly causal (and are in linkage disequilibrium with S447X) or that work synergistically with S447X to modulate TG levels. Finally, we find systematically lower effect sizes for the 12 risk variants discovered in European populations on the African local ancestry background in JHS, highlighting the need for caution in the use of genetic variants for risk assessment across different populations.

  12. Identification of Pyrus single nucleotide polymorphisms (SNPs and evaluation for genetic mapping in European pear and interspecific Pyrus hybrids.

    Directory of Open Access Journals (Sweden)

    Sara Montanari

    Full Text Available We have used new generation sequencing (NGS technologies to identify single nucleotide polymorphism (SNP markers from three European pear (Pyrus communis L. cultivars and subsequently developed a subset of 1096 pear SNPs into high throughput markers by combining them with the set of 7692 apple SNPs on the IRSC apple Infinium® II 8K array. We then evaluated this apple and pear Infinium® II 9K SNP array for large-scale genotyping in pear across several species, using both pear and apple SNPs. The segregating populations employed for array validation included a segregating population of European pear ('Old Home'×'Louise Bon Jersey' and four interspecific breeding families derived from Asian (P. pyrifolia Nakai and P. bretschneideri Rehd. and European pear pedigrees. In total, we mapped 857 polymorphic pear markers to construct the first SNP-based genetic maps for pear, comprising 78% of the total pear SNPs included in the array. In addition, 1031 SNP markers derived from apple (13% of the total apple SNPs included in the array were polymorphic and were mapped in one or more of the pear populations. These results are the first to demonstrate SNP transferability across the genera Malus and Pyrus. Our construction of high density SNP-based and gene-based genetic maps in pear represents an important step towards the identification of chromosomal regions associated with a range of horticultural characters, such as pest and disease resistance, orchard yield and fruit quality.

  13. Genetic relatedness between Japanese and European isolates of Clostridium difficile originating from piglets and their risk associated with human health

    Directory of Open Access Journals (Sweden)

    Masaru eUsui

    2014-10-01

    Full Text Available Clostridium difficile colonization in pig intestine has been a public health concern. We analyzed C. difficile prevalence among piglets in Japan to clarify their origin and extent of the associated risk by using molecular and microbiological methods for both swine and human clinical isolates and foreign isolates. C. difficile was isolated from 120 neonatal piglet faecal samples. Toxin gene profile, antimicrobial susceptibilities, PCR ribotype, and multiple-locus variable-number tandem-repeat analysis (MLVA type of swine isolates were determined and compared with those of human clinical and foreign isolates. One-hundred C. difficile strains were isolated from 69 (57.5% samples, and 61 isolates (61% were toxin gene-positive. Some isolates were resistant to antimicrobials, contributing to antibiotic-associated diarrhoea by C. difficile. These results suggest that C. difficile, prevalent among Japanese pigs, is a potential risk for antibiotic-associated diarrhoea. Furthermore, PCR ribotype 078 (12 isolates, which has been linked to multiple outbreaks worldwide, was the third-most frequently isolated of the 14 PCR ribotypes identified. Moreover, MLVA revealed that all 12 PCR ribotype 078 isolates were genetically related to European PCR ribotype 078 strains found in both humans and pigs. To date, in Japan, many breeding pigs have been imported from European countries. The genetic relatedness of C. difficile isolates of Japanese swine origin to those of European origin suggests that they were introduced into Japan via imported pigs.

  14. The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients

    DEFF Research Database (Denmark)

    Riis, Lene; Vind, Ida; Vermeire, Severine

    2007-01-01

    by genetic heterogeneity. We aimed to investigate the prevalence of polymorphisms in CARD15 and TLR4 and occurrence of anti-Saccharomyces cerevisiae (ASCA) and antineutrophil cytoplasmic antibodies (pANCA) in a European population-based IBD cohort. METHODS: Individuals from the incident cohort were genotyped...... for three mutations in CARD15 and the Asp299gly mutation in TLR4. Levels of ASCA and pANCA were assessed. Disease location and behaviour at time of diagnosis was obtained from patient files. RESULTS: Overall CARD15 mutation rate was 23.9% for CD and 9.6% for UC patients (P ....5% of CD patients with no north-south difference, and was associated with complicated disease. pANCA was most common in North European UC patients and not associated with disease phenotype. CONCLUSION: The prevalence of mutations in CARD15 varied across Europe, and was not correlated to the incidence of CD...

  15. Structural and Temporal Variation in Genetic Diversity of European Spring Two-Row Barley Cultivars and Association Mapping of Quantitative Traits

    Directory of Open Access Journals (Sweden)

    Alessandro Tondelli

    2013-07-01

    Full Text Available Two hundred sixteen barley ( L. cultivars were selected to represent the diversity and history of European spring two-row barley breeding and to search for alleles controlling agronomic traits by association genetics. The germplasm was genotyped with 7864 gene-based single nucleotide polymorphism markers and corresponding field trial trait data relating to growth and straw strength were obtained at multiple European sites. Analysis of the marker data by statistical population genetics approaches revealed two important trends in the genetic diversity of European two-row spring barley, namely, i directional selection for approximately 14% of total genetic variation of the population in the last approximately 50 yr and ii highly uneven genomic distribution of genetic diversity. Association analysis of the phenotypic and genotypic data identified multiple loci affecting the traits investigated, some of which co-map with selected regions. Collectively, these data show that the genetic makeup of European two-row spring barley is evolving under breeder selection, with signs of extinction of diversity in some genomic regions, suggesting that “breeding the best with the best” is leading towards fixation of some breeder targets. Nevertheless, modern germplasm also retains many regions of high diversity, suggesting that site-specific genetic approaches for allele identification and crop improvement such as association genetics are likely to be successful.

  16. Characterizing the genetic differences between two distinct migrant groups from Indo-European and Dravidian speaking populations in India.

    Science.gov (United States)

    Ali, Mohammad; Liu, Xuanyao; Pillai, Esakimuthu Nisha; Chen, Peng; Khor, Chiea-Chuen; Ong, Rick Twee-Hee; Teo, Yik-Ying

    2014-07-22

    India is home to many ethnically and linguistically diverse populations. It is hypothesized that history of invasions by people from Persia and Central Asia, who are referred as Aryans in Hindu Holy Scriptures, had a defining role in shaping the Indian population canvas. A shift in spoken languages from Dravidian languages to Indo-European languages around 1500 B.C. is central to the Aryan Invasion Theory. Here we investigate the genetic differences between two sub-populations of India consisting of: (1) The Indo-European language speaking Gujarati Indians with genome-wide data from the International HapMap Project; and (2) the Dravidian language speaking Tamil Indians with genome-wide data from the Singapore Genome Variation Project. We implemented three population genetics measures to identify genomic regions that are significantly differentiated between the two Indian populations originating from the north and south of India. These measures singled out genomic regions with: (i) SNPs exhibiting significant variation in allele frequencies in the two Indian populations; and (ii) differential signals of positive natural selection as quantified by the integrated haplotype score (iHS) and cross-population extended haplotype homozygosity (XP-EHH). One of the regions that emerged spans the SLC24A5 gene that has been functionally shown to affect skin pigmentation, with a higher degree of genetic sharing between Gujarati Indians and Europeans. Our finding points to a gene-flow from Europe to north India that provides an explanation for the lighter skin tones present in North Indians in comparison to South Indians.

  17. Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool

    Science.gov (United States)

    Kushniarevich, Alena; Sivitskaya, Larysa; Danilenko, Nina; Novogrodskii, Tadeush; Tsybovsky, Iosif; Kiseleva, Anna; Kotova, Svetlana; Chaubey, Gyaneshwer; Metspalu, Ene; Sahakyan, Hovhannes; Bahmanimehr, Ardeshir; Reidla, Maere; Rootsi, Siiri; Parik, Jüri; Reisberg, Tuuli; Achilli, Alessandro; Hooshiar Kashani, Baharak; Gandini, Francesca; Olivieri, Anna; Behar, Doron M.; Torroni, Antonio; Davydenko, Oleg; Villems, Richard

    2013-01-01

    Ethnic Belarusians make up more than 80% of the nine and half million people inhabiting the Republic of Belarus. Belarusians together with Ukrainians and Russians represent the East Slavic linguistic group, largest both in numbers and territory, inhabiting East Europe alongside Baltic-, Finno-Permic- and Turkic-speaking people. Till date, only a limited number of low resolution genetic studies have been performed on this population. Therefore, with the phylogeographic analysis of 565 Y-chromosomes and 267 mitochondrial DNAs from six well covered geographic sub-regions of Belarus we strove to complement the existing genetic profile of eastern Europeans. Our results reveal that around 80% of the paternal Belarusian gene pool is composed of R1a, I2a and N1c Y-chromosome haplogroups – a profile which is very similar to the two other eastern European populations – Ukrainians and Russians. The maternal Belarusian gene pool encompasses a full range of West Eurasian haplogroups and agrees well with the genetic structure of central-east European populations. Our data attest that latitudinal gradients characterize the variation of the uniparentally transmitted gene pools of modern Belarusians. In particular, the Y-chromosome reflects movements of people in central-east Europe, starting probably as early as the beginning of the Holocene. Furthermore, the matrilineal legacy of Belarusians retains two rare mitochondrial DNA haplogroups, N1a3 and N3, whose phylogeographies were explored in detail after de novo sequencing of 20 and 13 complete mitogenomes, respectively, from all over Eurasia. Our phylogeographic analyses reveal that two mitochondrial DNA lineages, N3 and N1a3, both of Middle Eastern origin, might mark distinct events of matrilineal gene flow to Europe: during the mid-Holocene period and around the Pleistocene-Holocene transition, respectively. PMID:23785503

  18. From Heuristic to Mathematical Modeling of Drugs Dissolution Profiles: Application of Artificial Neural Networks and Genetic Programming.

    Science.gov (United States)

    Mendyk, Aleksander; Güres, Sinan; Jachowicz, Renata; Szlęk, Jakub; Polak, Sebastian; Wiśniowska, Barbara; Kleinebudde, Peter

    2015-01-01

    The purpose of this work was to develop a mathematical model of the drug dissolution (Q) from the solid lipid extrudates based on the empirical approach. Artificial neural networks (ANNs) and genetic programming (GP) tools were used. Sensitivity analysis of ANNs provided reduction of the original input vector. GP allowed creation of the mathematical equation in two major approaches: (1) direct modeling of Q versus extrudate diameter (d) and the time variable (t) and (2) indirect modeling through Weibull equation. ANNs provided also information about minimum achievable generalization error and the way to enhance the original dataset used for adjustment of the equations' parameters. Two inputs were found important for the drug dissolution: d and t. The extrudates length (L) was found not important. Both GP modeling approaches allowed creation of relatively simple equations with their predictive performance comparable to the ANNs (root mean squared error (RMSE) from 2.19 to 2.33). The direct mode of GP modeling of Q versus d and t resulted in the most robust model. The idea of how to combine ANNs and GP in order to escape ANNs' black-box drawback without losing their superior predictive performance was demonstrated. Open Source software was used to deliver the state-of-the-art models and modeling strategies.

  19. Temporal genetic variation as revealed by a microsatellite analysis of European sardine ( Sardina pilchardus) archived samples

    DEFF Research Database (Denmark)

    Ruggeri, Paolo; Splendiani, Andrea; Bonanomi, Sara

    2012-01-01

    ) that explain the genetic diversity variation, while the same parameters turned out to be more stable in the southern samples. In addition, we detected the presence of a genetic bottleneck and low effective population size ( Ne) values in several northern samples. Even if the northern and southern Adriatic...... of otoliths and scales from sampling locations of northern (Chioggia) and southern (Vieste) Adriatic Sea, with the aim to investigate the genetic effects of these stock biomass fluctuations. The northern samples showed significant reduction in observed heterozygosity ( HO) and mean number of alleles ( Na...... sardine samples belong to the same genetic stock, the more pronounced decrease in genetic variability recorded in the northern sample led us to speculate that a more intensive fishing pressure and a more pronounced oceanographic isolation of this area could have accentuated the effects of the genetic...

  20. Genetic differentiation in the striped dolphin Stenella coeruleoalba from European waters according to mitochondrial DNA (mtDNA) restriction analysis.

    Science.gov (United States)

    García-Martínez, J; Moya, A; Raga, J A; Latorre, A

    1999-06-01

    We used mitochondrial DNA (mtDNA) restriction analysis to study genetic variation in 98 striped dolphins (Stenella coeruleoalba) stranded on coasts from different European countries and from animals caught by fisheries. A total of 63 different restriction sites was mapped after digestion of mtDNA with 15 restriction endonucleases that yielded a total of 27 haplotypes. No haplotype was shared between Mediterranean and Atlantic areas. All the analyses indicate the existence of two different populations with a very limited gene flow across the Strait of Gibraltar.

  1. Genetic diversity measures of local European beef cattle breeds for conservation purposes

    Directory of Open Access Journals (Sweden)

    Pereira Albano

    2001-05-01

    Full Text Available Abstract This study was undertaken to determine the genetic structure, evolutionary relationships, and the genetic diversity among 18 local cattle breeds from Spain, Portugal, and France using 16 microsatellites. Heterozygosities, estimates of Fst, genetic distances, multivariate and diversity analyses, and assignment tests were performed. Heterozygosities ranged from 0.54 in the Pirenaica breed to 0.72 in the Barrosã breed. Seven percent of the total genetic variability can be attributed to differences among breeds (mean Fst = 0.07; P

  2. Mathematical deconvolution uncovers the genetic regulatory signal of cancer cellular heterogeneity on resistance to paclitaxel.

    Science.gov (United States)

    Morilla, Ian; Ranea, Juan A

    2017-08-01

    Drug resistance remains a major problem in combating malignancies, resulting critical the resistance to paclitaxel used in the treatment of many different cancers. Elucidating the cellular heterogeneity composition of tumours may be relevant to designing more effective treatment strategies on drug resistance. In particular, such heterogeneity correlates with the measurement of gene expression below the population level. However, experimental assays capturing differential response are limited and cannot discern the variation in gene expression specific to different cellular types in tumour populations. These limitations led us to consider a mathematical modelling approach, in which the gene expression of cellular subpopulations is recovered by deconvolution. Mathematically, the deconvolution is a multi-linear regression-based problem. We combined herein data on cellular subpopulation frequency composition with gene expression values from 16 tumour lines (8 resistant and 8 sensitive to paclitaxel treatment) to find genes that are differentially expressed between paclitaxel resistant and paclitaxel sensitive tumour lines in different cellular subpopulations. The results indicate that many genes differentially expressed between paclitaxel resistant and sensitive cancer lines are only detected when considering their heterogeneous cellular composition. Overall, our methodology is thought to keep in mind phenotypic heterogeneity improving our resolution in the identification of biomarkers on resistance to chemo-therapeutic agents.

  3. Genetic and serological typing of European infectious haematopoietic necrosis virus (IHNV) isolates

    DEFF Research Database (Denmark)

    Johansson, Tove; Einer-Jensen, Katja; Batts, William

    2009-01-01

    the isolates from the USA. Analyses of the partial G gene of these European isolates clustered them in the M genogroup close to the root while the Russian isolate clustered in the U genogroup. The European isolates together with US-WRAC and US-Col-80 were also tested in an enzyme-linked immunosorbent assay...... (ELISA) using monoclonal antibodies (MAbs) against the N protein. MAbs 136-1 and 136-3 reacted equally at all concentrations with the isolates tested, indicating that these antibodies identify a common epitope. MAb 34D3 separated the M and L genogroup isolates from the U genogroup isolate. MAb 1DW14D...... in the serological studies using MAbs, the European M genogroup isolates could not be placed in the same specific group. These results indicate that genotypic and serotypic classification do not correlate....

  4. Assessment of genetic diversity in natural European hophornbeam (Ostrya carpinifolia Scop. populations in Turkey

    Directory of Open Access Journals (Sweden)

    Semsettin Kulac

    2016-09-01

    Full Text Available Genetic diversity is a crucial component for plant survivability and fitness in terms of adaptation, genetic stability and variability. In this study, a total of 160 genotypes were investigated using 12 random amplified polymorphic DNA (RAPD primers to understand the genetic structure and diversity of nine naturally distributed Ostrya carpinifolia populations in Turkey. Twelve RAPD primers yielded 111 clearly identifiable DNA bands, of which 71 bands were found to be polymorphic (64%. Observed number of alleles (Na, effective number of alleles (Ne and Nei's gene diversity (h were found as 2, 1.53 and 0.32, respectively. Total genetic variation (HT, within-population genetic variation (HS and Nei's genetic differentiation coefficient (GST were found as 0.32, 0.09 and 0.70, respectively. Genetic diversity analysis (AMOVA revealed highly significant (P < 0.001 genetic variations among and within populations. 69.94% of total variation was observed among populations while 26.69% was within populations. Gene flow value was calculated as 0.21 (Nm < 0.5, which could homogenize the genetic structure of a population. Two geographically isolated populations demonstrated high gene diversity and polymorphic loci ratio, indicating a relationship between geographic distribution of populations and eco-geographic factors. The findings of this study will pave the way for understanding the genetic diversity between inter- and intra-populations of O. carpinifolia species, as well as they would provide valuable information for management, conservation and utilization of in situ and ex situ Ostrya germplasms.

  5. Ex situ conservation of genetic resources of field elm (Ulmus minor Mill and European white elm (Ulmus laevis Pall

    Directory of Open Access Journals (Sweden)

    Aleksić Jelena

    2004-01-01

    Full Text Available Principles of the conservation of genetic resources of elms (Ulmus spp do not differ fundamentally from the general principles accepted for the conservation of genetic resources of other common Noble Hardwoods. Efficient conservation can best be achieved through appropriate combination of in situ and ex situ methods, which have distinct advantages. Besides that, ex situ conservation is employed when emergency measures are needed for rare endangered populations and when populations are too small to be managed in situ (e.g. risks of genetic drift and inbreeding. The aim of our research is ex situ conservation of genetic resources of field elm {Ulmus minor Mill and European white elm (Ulmus laevis Pall through establishment of field genebanks. Sampling was conducted in one population of field elm and one population of white elm. Plant material (buds from 8 trees of field elm and 10 trees of white elm was used for in vitro production of clones. Obtained clones will be used for establishment of field genebanks on the experimental estate of the Institute of Lowland Forestry and Environment.

  6. Molecular survey of genetic diversity in the endangered European mink Mustela lutreola.

    Science.gov (United States)

    Peltier, Didier; Lodé, Thierry

    2003-08-01

    The European mink Mustela lutreola is regarded as one of the most endangered mammals in the world. We chose to characterize microsatellite loci in order to investigate the pattern of decline of this species. We used primer pairs developed for a related species Mustela vison to genotype individual of Mustela lutreola. Out of 19 primer pairs used 8 were useful for our purpose. The conservation of primer sequence point out the problem of neutrality of some microsatellite loci as this conservation could be related to strong selection pressure on those loci. Finally we present the first data allowing an estimation of heterozygosity of French population of European mink.

  7. Proportionally more deleterious genetic variation in European than in African populations

    DEFF Research Database (Denmark)

    Lohmueller, Kirk E; Indap, Amit R; Schmidt, Steffen

    2008-01-01

    predictions to estimate the number of functionally consequential single-nucleotide polymorphisms (SNPs) carried by each of 15 African American (AA) and 20 European American (EA) individuals. We find that AAs show significantly higher levels of nucleotide heterozygosity than do EAs for all categories...... of functional SNPs considered, including synonymous, non-synonymous, predicted 'benign', predicted 'possibly damaging' and predicted 'probably damaging' SNPs. This result is wholly consistent with previous work showing higher overall levels of nucleotide variation in African populations than in Europeans. EA...

  8. Mathematical modeling of continuous ethanol fermentation in a membrane bioreactor by pervaporation compared to conventional system: Genetic algorithm.

    Science.gov (United States)

    Esfahanian, Mehri; Shokuhi Rad, Ali; Khoshhal, Saeed; Najafpour, Ghasem; Asghari, Behnam

    2016-07-01

    In this paper, genetic algorithm was used to investigate mathematical modeling of ethanol fermentation in a continuous conventional bioreactor (CCBR) and a continuous membrane bioreactor (CMBR) by ethanol permselective polydimethylsiloxane (PDMS) membrane. A lab scale CMBR with medium glucose concentration of 100gL(-1) and Saccharomyces cerevisiae microorganism was designed and fabricated. At dilution rate of 0.14h(-1), maximum specific cell growth rate and productivity of 0.27h(-1) and 6.49gL(-1)h(-1) were respectively found in CMBR. However, at very high dilution rate, the performance of CMBR was quite similar to conventional fermentation on account of insufficient incubation time. In both systems, genetic algorithm modeling of cell growth, ethanol production and glucose concentration were conducted based on Monod and Moser kinetic models during each retention time at unsteady condition. The results showed that Moser kinetic model was more satisfactory and desirable than Monod model. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. Genetic susceptibility to type 2 diabetes and breast cancer risk in women of European and African ancestry.

    Science.gov (United States)

    Hou, Ningqi; Zheng, Yonglan; Gamazon, Eric R; Ogundiran, Temidayo O; Adebamowo, Clement; Nathanson, Katherine L; Domchek, Susan M; Rebbeck, Timothy R; Simon, Michael S; John, Esther M; Hennis, Anselm; Nemesure, Barbara; Wu, Suh-Yuh; Leske, M Cristina; Ambs, Stefan; Niu, Qun; Zhang, Jing; Pierce, Brandon; Cox, Nancy J; Olopade, Olufunmilayo I; Huo, Dezheng

    2012-03-01

    Epidemiologic studies have reported a positive association between type 2 diabetes (T2D) and breast cancer risk, independent of body weight. We investigated 40 genetic variants known to be associated with T2D in relation to breast cancer risk among 2,651 breast cancer cases and 2,520 controls of African or European ancestry that were pooled from seven studies. We found that two T2D risk alleles in Caucasian women (rs5945326-G, rs12518099-C) and one in women of African ancestry (rs7578597-T) were positively associated with breast cancer risk at a nominal significance level of 0.05, whereas two T2D risk alleles were inversely associated with breast cancer risk in Caucasian women (rs1111875-C, rs10923931-T). The composite T2D susceptibility score (the number of risk allele) was not significantly associated with breast cancer risk. The association between established T2D genetic susceptibility variants and breast cancer risk in women of African or European ancestry is likely weak, if it does exist. The pleiotropic effects of known T2D risk alleles cannot explain the association between T2D and breast cancer risk. ©2012 AACR.

  10. Influence from genetic variability on opioid use for cancer pain: a European genetic association study of 2294 cancer pain patients

    DEFF Research Database (Denmark)

    Klepstad, P; Fladvad, T; Skorpen, F

    2011-01-01

    mechanisms. The patients' mean age was 62.5 years, and the average pain intensity was 3.5. The patients' primary opioids were morphine (n=830), oxycodone (n=446), fentanyl (n=699), or other opioids (n=234). Pain intensity, time on opioids, age, gender, performance status, and bone or CNS metastases predicted...... variability with opioid doses in a large population using a confirmatory validation population was warranted. We recruited 2294 adult European patients using a World Health Organization (WHO) step III opioid and analyzed single nucleotide polymorphisms (SNPs) in genes with a putative influence on opioid......C, HTR3D, HTR3E, HTR1, or CNR1 showed significant associations with opioid dose in both the development and the validation analyzes. These findings do not support the use of pharmacogenetic analyses for the assessed SNPs to guide opioid treatment. The study also demonstrates the importance...

  11. Amphibian population genetics in agricultural landscapes: does viniculture drive the population structuring of the European common frog (Rana temporaria?

    Directory of Open Access Journals (Sweden)

    Patrick P. Lenhardt

    2017-07-01

    Full Text Available Amphibian populations have been declining globally over the past decades. The intensification of agriculture, habitat loss, fragmentation of populations and toxic substances in the environment are considered as driving factors for this decline. Today, about 50% of the area of Germany is used for agriculture and is inhabited by a diverse variety of 20 amphibian species. Of these, 19 are exhibiting declining populations. Due to the protection status of native amphibian species, it is important to evaluate the effect of land use and associated stressors (such as road mortality and pesticide toxicity on the genetic population structure of amphibians in agricultural landscapes. We investigated the effects of viniculture on the genetic differentiation of European common frog (Rana temporaria populations in Southern Palatinate (Germany. We analyzed microsatellite data of ten loci from ten breeding pond populations located within viniculture landscape and in the adjacent forest block and compared these results with a previously developed landscape permeability model. We tested for significant correlation of genetic population differentiation and landscape elements, including land use as well as roads and their associated traffic intensity, to explain the genetic structure in the study area. Genetic differentiation among forest populations was significantly lower (median pairwise FST = 0.0041 at 5.39 km to 0.0159 at 9.40 km distance than between viniculture populations (median pairwise FST = 0.0215 at 2.34 km to 0.0987 at 2.39 km distance. Our analyses rejected isolation by distance based on roads and associated traffic intensity as the sole explanation of the genetic differentiation and suggest that the viniculture landscape has to be considered as a limiting barrier for R. temporaria migration, partially confirming the isolation of breeding ponds predicted by the landscape permeability model. Therefore, arable land may act as a sink habitat

  12. Amphibian population genetics in agricultural landscapes: does viniculture drive the population structuring of the European common frog (Rana temporaria)?

    Science.gov (United States)

    Lenhardt, Patrick P; Brühl, Carsten A; Leeb, Christoph; Theissinger, Kathrin

    2017-01-01

    Amphibian populations have been declining globally over the past decades. The intensification of agriculture, habitat loss, fragmentation of populations and toxic substances in the environment are considered as driving factors for this decline. Today, about 50% of the area of Germany is used for agriculture and is inhabited by a diverse variety of 20 amphibian species. Of these, 19 are exhibiting declining populations. Due to the protection status of native amphibian species, it is important to evaluate the effect of land use and associated stressors (such as road mortality and pesticide toxicity) on the genetic population structure of amphibians in agricultural landscapes. We investigated the effects of viniculture on the genetic differentiation of European common frog (Rana temporaria) populations in Southern Palatinate (Germany). We analyzed microsatellite data of ten loci from ten breeding pond populations located within viniculture landscape and in the adjacent forest block and compared these results with a previously developed landscape permeability model. We tested for significant correlation of genetic population differentiation and landscape elements, including land use as well as roads and their associated traffic intensity, to explain the genetic structure in the study area. Genetic differentiation among forest populations was significantly lower (median pairwise FST = 0.0041 at 5.39 km to 0.0159 at 9.40 km distance) than between viniculture populations (median pairwise FST = 0.0215 at 2.34 km to 0.0987 at 2.39 km distance). Our analyses rejected isolation by distance based on roads and associated traffic intensity as the sole explanation of the genetic differentiation and suggest that the viniculture landscape has to be considered as a limiting barrier for R. temporaria migration, partially confirming the isolation of breeding ponds predicted by the landscape permeability model. Therefore, arable land may act as a sink habitat, inhibiting genetic

  13. Genetic and serological typing of European infectious haematopoietic necrosis virus (IHNV) isolates

    Science.gov (United States)

    Johansson, T.; Einer-Jensen, K.; Batts, W.; Ahrens, P.; Bjorkblom, C.; Kurath, G.; Bjorklund, H.; Lorenzen, N.

    2009-01-01

    Infectious haematopoietic necrosis virus (IHNV) causes the lethal disease infectious haematopoietic necrosis (IHN) in juvenile salmon and trout. The nucleocapsid (N) protein gene and partial glycoprotein (G) gene (nucleotides 457 to 1061) of the European isolates IT-217A, FR-32/87, DE-DF 13/98 11621, DE-DF 4/99-8/99, AU-9695338 and RU-FR1 were sequenced and compared with IHNV isolates from the North American genogroups U, M and L. In phylogenetic studies the N gene of the Italian, French, German and Austrian isolates clustered in the M genogroup, though in a different subgroup than the isolates from the USA. Analyses of the partial G gene of these European isolates clustered them in the M genogroup close to the root while the Russian isolate clustered in the U genogroup. The European isolates together with US-WRAC and US-Col-80 were also tested in an enzyme-linked immunosorbent assay (ELISA) using monoclonal antibodies (MAbs) against the N protein. MAbs 136-1 and 136-3 reacted equally at all concentrations with the isolates tested, indicating that these antibodies identify a common epitope. MAb 34D3 separated the M and L genogroup isolates from the U genogroup isolate. MAb 1DW14D divided the European isolates into 2 groups. MAb 1DW14D reacted more strongly with DE-DF 13/98 11621 and RU-FR1 than with IT-217A, FR- 32/87, DE-DF 4/99-8/99 and AU-9695338. In the phylogenetic studies, the Italian, French, German and Austrian isolates clustered in the M genogroup, whereas in the serological studies using MAbs, the European M genogroup isolates could not be placed in the same specific group. These results indicate that genotypic and serotypic classification do not correlate. ?? 2009 Inter-Research.

  14. Low but contrasting neutral genetic differentiation shaped by winter temperature in European great tits.

    NARCIS (Netherlands)

    Lemoine, M.; Lucek, K.; Perrier, C.; Saladin, V.; Adriaensen, F.; Barba, E.; Belda, E.J.; Charmantier, A.; Cichoń, M.; Eeva, T.; Grégoire, A.; Hinde, C.A.; Johnsen, A.; Komdeur, J.; Mänd, R.; Matthysen, E.; Norte, A.C.; Pitala, N.; Sheldon, B.C.; Slagsvold, T.; Tinbergen, J.M.; Török, J.; Ubels, R.; van Oers, K.; Visser, M.E.; Doligez, Blandine; Richner, Heinz

    2016-01-01

    Gene flow is usually thought to reduce genetic divergence and impede local adaptation by homogenising gene pools between populations. However, evidence for local adaptation and phenotypic differentiation in highly mobile species, experiencing high levels of gene flow, is emerging. Assessing

  15. Low but contrasting neutral genetic differentiation shaped by winter temperature in European great tits

    NARCIS (Netherlands)

    Lemoine, Melissa; Lucek, Kay; Perrier, Charles; Saladin, Verena; Adriaensen, Frank; Barba, Emilio; Belda, Eduardo J.; Charmantier, Anne; Cichon, Mariusz; Eeva, Tapio; Gregoire, Arnaud; Hinde, Camilla A.; Johnsen, Arild; Komdeur, Jan; Mand, Raivo; Matthysen, Erik; Norte, Ana Claudia; Pitala, Natalia; Sheldon, Ben C.; Slagsvold, Tore; Tinbergen, Joost M.; Torok, Janos; Ubels, Richard; Van Oers, Kees; Visser, Marcel E.; Doligez, Blandine; Richner, Heinz

    Gene flow is usually thought to reduce genetic divergence and impede local adaptation by homogenising gene pools between populations. However, evidence for local adaptation and phenotypic differentiation in highly mobile species, experiencing high levels of gene flow, is emerging. Assessing

  16. Novel genetic markers associate with atrial fibrillation risk in Europeans and Japanese

    NARCIS (Netherlands)

    S.A. Lubitz (Steven); K.L. Lunetta (Kathryn); H. Lin (Honghuang); D.E. Arking (Dan); S. Trompet (Stella); G. Li (Guo); B.P. Krijthe (Bouwe); D.I. Chasman (Daniel); J. Barnard (John); M.E. Kleber (Marcus); M. Dörr (Marcus); Y. Ozaki (Yukio); G.D. Smith; M. Müller-Nurasyid (Martina); S. Walter (Stefan); S.K. Agarwal (Sunil); J.C. Bis (Joshua); J. Brody (Jennifer); L. Chen (Lin); B.M. Everett (Brendan); I. Ford (Ian); O.H. Franco (Oscar); T.B. Harris (Tamara); A. Hofman (Albert); S. Kääb (Stefan); S. Mahida (Saagar); S. Kathiresan (Sekar); M. Kubo (Michiaki); L.J. Launer (Lenore); P.W. MacFarlane (Peter); J.W. Magnani (Jared); B. McKnight (Barbara); D.D. McManus (David); A. Peters (Annette); B.M. Psaty (Bruce); L.M. Rose (Lynda); J.I. Rotter (Jerome); G. Silbernagel (Günther); J.D. Smith (Jonathan); N. Sotoodehnia (Nona); D.J. Stott (David. J.); K.D. Taylor (Kent); A. Tomaschitz (Andreas); T. Tsunoda (Tatsuhiko); A.G. Uitterlinden (André); D.R. van Wagoner (David); U. Völker (Uwe); H. Völzke (Henry); J. Murabito (Joanne); M.F. Sinner (Moritz); V. Gudnason (Vilmundur); S.B. Felix (Stephan); W. März (Winfried); M.K. Chung (Mina); C.M. Albert (Christine); B.H.Ch. Stricker (Bruno); T. Tanaka (Toshihiro); S.R. Heckbert (Susan); J.W. Jukema (Jan Wouter); A. Alonso (Alvaro); E.J. Benjamin (Emelia); P.T. Ellinor (Patrick)

    2014-01-01

    textabstractObjectives This study sought to identify nonredundant atrial fibrillation (AF) genetic susceptibility signals and examine their cumulative relations with AF risk. Background AF-associated loci span broad genomic regions that may contain multiple susceptibility signals. Whether multiple

  17. Genetic variation in carbon isotope discrimination in six European populations of Castanea sativa Mill. originating from contrasting localities.

    Science.gov (United States)

    Lauteri, M; Pliura, A; Monteverdi, M C; Brugnoli, E; Villani, F; Eriksson, G

    2004-11-01

    The objective of this study was to evaluate the variability of physiological performances of Castanea sativa Mill. in relation to drought tolerance, among and within European populations coming from contrasting environmental conditions. Forty-eight open-pollinated families from a stratified sample (temperature/precipitation) of six naturalized populations from Spain, Italy and Greece were grown for one growth period under two temperature regimes (25 and 32 degrees C), in combination with two watering regimes in growth chambers. Complementary to growth traits analysed in a previous study, carbon isotope discrimination (Delta), a complex physiological trait involved in acclimation and adaptive processes, was studied. anova indicated significant Delta variability for C. sativa populations across Europe and, thereby, variation in adaptedness to drought. The European pattern of Delta variability matches the previously reported one for the centre of origin of C. sativa (Ponto-Caucasian region). This suggests that common mechanisms of drought adaptedness, involving both genetic and physiological determinants, give C. sativa the capacity to colonize a wide range of site conditions. The highest Delta values, indicating the lowest water-use efficiency (WUE), were found within each treatment for populations originating from Mediterranean drought-prone sites. These populations also had the highest phenotypic plasticity of Delta. Significant among-family genetic variation in Delta was found. The heritability based on the joint anova was estimated at 0.31 +/- 0.07. The estimates of the coefficients for the additive variance varied in the range 2.6-4.0%, suggesting possibilities for selection on WUE and adaptedness to drought. The genetic correlations between Delta and growth traits were generally strong and negative, especially in the two high temperature treatments.

  18. Association of Genetic Susceptibility Variants for Type 2 Diabetes with Breast Cancer Risk in Women of European Ancestry

    Science.gov (United States)

    Zhao, Zhiguo; Wen, Wanqing; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Zhang, Ben; Long, Jirong; Shu, Xiao-Ou; Schmidt, Marjanka K.; Milne, Roger L.; García-Closas, Montserrat; Chang-Claude, Jenny; Lindstrom, Sara; Bojesen, Stig E.; Ahsan, Habibul; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W.; Beeghly-Fadiel, Alicia; Benitez, Javier; Blomqvist, Carl; Bogdanova, Natalia V.; Børresen-Dale, Anne-Lise; Brand, Judith; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Cai, Qiuyin; Casey, Graham; Chenevix-Trench, Georgia; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Dörk, Thilo; Dumont, Martine; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gammon, Marilie; Giles, Graham G.; Guénel, Pascal; Haiman, Christopher A.; Hamann, Ute; Harrington, Patricia; Hartman, Mikael; Hooning, Maartje J.; Hopper, John L.; Jakubowska, Anna; Jasmine, Farzana; John, Esther M.; Johnson, Nichola; Kabisch, Maria; Khan, Sofia; Kibriya, Muhammad; Knight, Julia A.; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Luben, Robert; Lubinski, Jan; Malone, Kathleen E.; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Miao, Hui; Muir, Kenneth; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Olson, Janet E.; Perkins, Barbara; Peterlongo, Paolo; Phillips, Kelly-Anne; Pylkäs, Katri; Rudolph, Anja; Santella, Regina; Sawyer, Elinor J.; Schmutzler, Rita K.; Schoemaker, Minouk; Shah, Mitul; Shrubsole, Martha; Southey, Melissa C.; Swerdlow, Anthony J; Toland, Amanda E.; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Ursin, Giske; Van Der Luijt, Rob B.; Verhoef, Senno; Wang-Gohrke, Shan; Whittemore, Alice S.; Winqvist, Robert; Zamora, M. Pilar; Zhao, Hui; Dunning, Alison M.; Simard, Jacques; Hall, Per; Kraft, Peter; Pharoah, Paul; Hunter, David; Easton, Douglas F.; Zheng, Wei

    2016-01-01

    Purpose Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. Methods We constructed a genetic risk score (GRS) using risk variants from 33 known independent T2D susceptibility loci and evaluated its relation to breast cancer risk using the data from two consortia, including 62,328 breast cancer patients and 83,817 controls of European ancestry. Unconditional logistic regression models were used to derive adjusted odds ratios (OR) and 95% confidence intervals (CI) to measure the association of breast cancer risk with T2D GRS or T2D-associated genetic risk variants. Meta-analyses were conducted to obtain summary ORs across all studies. Results The T2D GRS was not found to be associated with breast cancer risk, overall, by menopausal status, or for estrogen receptor positive or negative breast cancer. Three T2D associated risk variants were individually associated with breast cancer risk after adjustment for multiple comparisons using the Bonferroni method (at P < 0.001), rs9939609 (FTO) (OR = 0.94, 95% CI = 0.92 – 0.95, P = 4.13E-13), rs7903146 (TCF7L2) (OR = 1.04, 95% CI = 1.02 – 1.06, P = 1.26E-05), and rs8042680 (PRC1) (OR = 0.97, 95% CI = 0.95 – 0.99, P = 8.05E-04). Conclusions We have shown that several genetic risk variants were associated with the risk of both T2D and breast cancer. However, overall genetic susceptibility to T2D may not be related to breast cancer risk. PMID:27053251

  19. Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry.

    Science.gov (United States)

    Zhao, Zhiguo; Wen, Wanqing; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Zhang, Ben; Long, Jirong; Shu, Xiao-Ou; Schmidt, Marjanka K; Milne, Roger L; García-Closas, Montserrat; Chang-Claude, Jenny; Lindstrom, Sara; Bojesen, Stig E; Ahsan, Habibul; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Blomqvist, Carl; Bogdanova, Natalia V; Børresen-Dale, Anne-Lise; Brand, Judith; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Cai, Qiuyin; Casey, Graham; Chenevix-Trench, Georgia; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Dörk, Thilo; Dumont, Martine; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gammon, Marilie; Giles, Graham G; Guénel, Pascal; Haiman, Christopher A; Hamann, Ute; Harrington, Patricia; Hartman, Mikael; Hooning, Maartje J; Hopper, John L; Jakubowska, Anna; Jasmine, Farzana; John, Esther M; Johnson, Nichola; Kabisch, Maria; Khan, Sofia; Kibriya, Muhammad; Knight, Julia A; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Luben, Robert; Lubinski, Jan; Malone, Kathleen E; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Miao, Hui; Muir, Kenneth; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Olson, Janet E; Perkins, Barbara; Peterlongo, Paolo; Phillips, Kelly-Anne; Pylkäs, Katri; Rudolph, Anja; Santella, Regina; Sawyer, Elinor J; Schmutzler, Rita K; Schoemaker, Minouk; Shah, Mitul; Shrubsole, Martha; Southey, Melissa C; Swerdlow, Anthony J; Toland, Amanda E; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Ursin, Giske; Van Der Luijt, Rob B; Verhoef, Senno; Wang-Gohrke, Shan; Whittemore, Alice S; Winqvist, Robert; Pilar Zamora, M; Zhao, Hui; Dunning, Alison M; Simard, Jacques; Hall, Per; Kraft, Peter; Pharoah, Paul; Hunter, David; Easton, Douglas F; Zheng, Wei

    2016-05-01

    Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. We constructed a genetic risk score (GRS) using risk variants from 33 known independent T2D susceptibility loci and evaluated its relation to breast cancer risk using the data from two consortia, including 62,328 breast cancer patients and 83,817 controls of European ancestry. Unconditional logistic regression models were used to derive adjusted odds ratios (ORs) and 95 % confidence intervals (CIs) to measure the association of breast cancer risk with T2D GRS or T2D-associated genetic risk variants. Meta-analyses were conducted to obtain summary ORs across all studies. The T2D GRS was not found to be associated with breast cancer risk, overall, by menopausal status, or for estrogen receptor positive or negative breast cancer. Three T2D associated risk variants were individually associated with breast cancer risk after adjustment for multiple comparisons using the Bonferroni method (at p < 0.001), rs9939609 (FTO) (OR 0.94, 95 % CI = 0.92-0.95, p = 4.13E-13), rs7903146 (TCF7L2) (OR 1.04, 95 % CI = 1.02-1.06, p = 1.26E-05), and rs8042680 (PRC1) (OR 0.97, 95 % CI = 0.95-0.99, p = 8.05E-04). We have shown that several genetic risk variants were associated with the risk of both T2D and breast cancer. However, overall genetic susceptibility to T2D may not be related to breast cancer risk.

  20. Genetic architecture of resistance to Septoria tritici blotch in European wheat.

    Science.gov (United States)

    Miedaner, Thomas; Zhao, Yusheng; Gowda, Manje; Longin, C Friedrich H; Korzun, Viktor; Ebmeyer, Erhard; Kazman, Ebrahim; Reif, Jochen C

    2013-12-05

    Septoria tritici blotch is an important leaf disease of European winter wheat. In our survey, we analyzed Septoria tritici blotch resistance in field trials with a large population of 1,055 elite hybrids and their 87 parental lines. Entries were fingerprinted with the 9 k SNP array. The accuracy of prediction of Septoria tritici blotch resistance achieved with different genome-wide mapping approaches was evaluated based on robust cross validation scenarios. Septoria tritici blotch disease severities were normally distributed, with genotypic variation being significantly (P European winter wheat is controlled by multiple loci with small effect size. This suggests that the currently achieved level of resistance in this collection is likely to be durable, as involvement of a high number of genes in a resistance trait reduces the risk of the resistance to be overcome by specific pathogen isolates or races.

  1. Low but contrasting neutral genetic differentiation shaped by winter temperature in European great tits

    NARCIS (Netherlands)

    Lemoine, Mélissa; Lucek, Kay; Perrier, Charles; Saladin, Verena; Adriaensen, Frank; Barba, Emilio; Belda, Eduardo J.; Charmantier, Anne; Cichoń, Mariusz; Eeva, Tapio; Grégoire, Arnaud; Hinde, Camilla A.; Johnsen, Arild; Komdeur, Jan; Mänd, Raivo; Matthysen, Erik; Norte, Ana Cláudia; Pitala, Natalia; Sheldon, Ben C.; Slagsvold, Tore; Tinbergen, Joost M.; Török, János; Ubels, Richard; Oers, van Kees; Visser, Marcel E.; Doligez, Blandine; Richner, Heinz

    2016-01-01

    Gene flow is usually thought to reduce genetic divergence and impede local adaptation by homogenising gene pools between populations. However, evidence for local adaptation and phenotypic differentiation in highly mobile species, experiencing high levels of gene flow, is emerging. Assessing

  2. Genetic variability in the European bison (Bison bonasus) population from Bialowieza forest over 50 years

    DEFF Research Database (Denmark)

    Tokarska, Malgorzata; Kawalko, Agata; Wojcik, Jan M.

    2009-01-01

    The aim of this study was to assess potential post-bottleneck temporal genetic differentiation following the reintroduction of the species into the Bialowieza Forest. Variability of 12 polymorphic microsatellite markers was analysed for 178 individuals born between 1955 and 2005, divided by birth...

  3. Genetic diversity of European populations of the invasive soft-shell clam Mya arenaria (Bivalvia)

    NARCIS (Netherlands)

    Lasota, R.; Hummel, H.; Wolowicz, M.

    2004-01-01

    The genetic diversity of the soft-shell clam Mya arenaria from seven locations in Europe (two stations in the southern Baltic Sea (the Gulf of Gdansk) and two in the North Sea (Veerse Meer and Oosterschelde), and three additional stations in the Denmark Straits and Bay of Biscay) was determined

  4. Genetic diversity and linkage disequilibrium studies on a 3.1-Mb genomic region of chromosome 3B in European and Asian bread wheat (Triticum aestivum L.) populations.

    Science.gov (United States)

    Hao, C Y; Perretant, M R; Choulet, F; Wang, L F; Paux, E; Sourdille, P; Zhang, X Y; Feuillet, C; Balfourier, Francois

    2010-11-01

    Genetic diversity and linkage disequilibrium (LD) were investigated in 376 Asian and European accessions of bread wheat (Triticum aestivum L.). After a first and rapid screening about diversity and genetic structure at the whole genome scale using 70 simple sequence repeats (SSRs), we focused on a sequenced contig (ctg954) of 3.1 Mb located on the short arm of chromosome 3B of cv. Chinese Spring, using 32 SSRs and 10 single nucleotide polymorphisms. This contig is part of a multiple fungal resistance region. Mean polymorphism information content value on the 32 SSRs was slightly higher in the Asian genepool (0.396) than that for the European (0.329) pool. Compared with results at the whole genome scale, data from this 3.1-Mb region indicated similar trends in genetic diversity indices between both genepools. Population structure and molecular variance analyses demonstrated significant genetic differentiation and geographical subdivision in both groups of accessions. Concerning LD at the contig level, the European population had a significantly higher mean r(2) value (0.23) than the Asian population (0.18), indicating a stronger LD in the European material. With a mean of 1 marker every 74 kb, the resolution reached here allowed to perform a detailed comparative analysis of the LD and genetic diversity along the complete 3.1-Mb region in both genepools. A sliding-window approach revealed some interesting regions of the contig where LD is increasing when genetic diversity is decreasing. This study provides an in-depth understanding of molecular population genetics in European and Asian wheat gene pools, and prospects for association mapping of important sources of fungal disease resistance.

  5. Mathematical limits of multilocus models: the genetic transmission of bipolar disorder.

    Science.gov (United States)

    Craddock, N; Khodel, V; Van Eerdewegh, P; Reich, T

    1995-09-01

    We describe a simple, graphical method for determining plausible modes of inheritance for complex traits and apply this to bipolar disorder. The constraints that allele frequencies and penetrances lie in the interval 0-1 impose limits on recurrence risks, KR, in relatives of an affected proband for a given population prevalence, KP. We have investigated these limits for KR in three classes of relatives (MZ co-twin, sibling, and parent/offspring) for the general single-locus model and for two types of multilocus models: heterogeneity and multiplicative. In our models we have assumed Hardy-Weinberg equilibrium, an all-or-none trait, absence of nongenetic resemblance between relatives, and negligible mutation at the disease loci. Although the true values of KP and the KR's are only approximately known, observed population and family data for bipolar disorder are inconsistent with a single-locus model or with any heterogeneity model. In contrast, multiplicative models involving three or more loci are consistent with observed data and, thus, represent plausible models for the inheritance of bipolar disorders. Studies to determine the genetic basis of most bipolar disorder should use methods capable of detecting interacting oligogenes.

  6. A genetic algorithm for a bi-objective mathematical model for dynamic virtual cell formation problem

    Science.gov (United States)

    Moradgholi, Mostafa; Paydar, Mohammad Mahdi; Mahdavi, Iraj; Jouzdani, Javid

    2016-05-01

    Nowadays, with the increasing pressure of the competitive business environment and demand for diverse products, manufacturers are force to seek for solutions that reduce production costs and rise product quality. Cellular manufacturing system (CMS), as a means to this end, has been a point of attraction to both researchers and practitioners. Limitations of cell formation problem (CFP), as one of important topics in CMS, have led to the introduction of virtual CMS (VCMS). This research addresses a bi-objective dynamic virtual cell formation problem (DVCFP) with the objective of finding the optimal formation of cells, considering the material handling costs, fixed machine installation costs and variable production costs of machines and workforce. Furthermore, we consider different skills on different machines in workforce assignment in a multi-period planning horizon. The bi-objective model is transformed to a single-objective fuzzy goal programming model and to show its performance; numerical examples are solved using the LINGO software. In addition, genetic algorithm (GA) is customized to tackle large-scale instances of the problems to show the performance of the solution method.

  7. Mathematical limits of multilocus models: The genetic transmission of bipolar disorder

    Energy Technology Data Exchange (ETDEWEB)

    Craddock, N.; Khodel, V.; Van Eerdewegh, P.; Reich, T. [Washington Univ. School of Medicine, St. Louis, MO (United States)

    1995-09-01

    We describe a simple, graphical method for determining plausible modes of inheritance for complex traits and apply this to bipolar disorder. The constraints that allele frequencies and penetrances lie in the interval 0-1 impose limits on recurrence risks, K{sub R}, in relatives of an affected proband for a given population prevalence, K{sub p}. We have investigated these limits for K{sub R} in three classes of relatives (MZ co-twin, sibling, and parent/offspring) for the general single-locus model and for two types of multilocus models: heterogeneity and multiplicative. In our models we have assumed Hardy-Weinberg equilibrium, an all-or-none trait, absence of nongenetic resemblance between relatives, and negligible mutation at the disease loci. Although the true values of K{sub p} and the K{sub R}`s are only approximately known, observed population and family data for bipolar disorder are inconsistent with a single-locus model or with any heterogeneity model. In contrast, multiplicative models involving three or more loci are consistent with observed data and, thus, represent plausible models for the inheritance of bipolar disorder. Studies to determine the genetic basis of most bipolar disorder should use methods capable of detecting interacting oligogenes. 32 refs., 5 figs.

  8. Genetic diversity and population structure of 20 North European cattle breeds

    DEFF Research Database (Denmark)

    kantanen, J; Olsaker, Ingrid; Holm, Lars-Erik

    2000-01-01

    population structures. The microsatellites BoLA-DRBP1 and CSSM66 were nonneutral markers according to the Ewens-Watterson test, suggesting some kind of selection imposed on these loci. North European cattle breeds displayed generally similar levels of multilocus heterozygosity and allelic diversity. However...... and geographical divisions of native breeding regions of indigenous cattle. Divergence estimates between Icelandic cattle and indigenous breeds suggested a separation time of more than 1,000 years between Icelandic cattle and Norwegian native breeds, a finding consistent with historical evidence....

  9. European rational approach for the genetics of diabetic complications--EURAGEDIC: patient populations and strategy

    DEFF Research Database (Denmark)

    Tarnow, L.; Groop, P.H.; Hadjadj, S.

    2008-01-01

    in 541 independent parent-offspring trios with or without diabetic nephropathy was applied for validation of consistency. Candidate genes were selected based on previous linkage studies, knowledge of metabolic pathways, and animal models. A comprehensive SNP discovery in more than 100 candidate genes...... was performed by direct sequencing. RESULTS: In total, 1176 cases with diabetic nephropathy and 1323 diabetic controls with longstanding normoalbuminuria were included from three European populations (Denmark, Finland, France). Data were collected on HbA(1c), blood pressure, urinary albumin excretion rate...

  10. Genetic ancestry, self-reported race and ethnicity in African Americans and European Americans in the PCaP cohort.

    Directory of Open Access Journals (Sweden)

    Lara E Sucheston

    Full Text Available Family history and African-American race are important risk factors for both prostate cancer (CaP incidence and aggressiveness. When studying complex diseases such as CaP that have a heritable component, chances of finding true disease susceptibility alleles can be increased by accounting for genetic ancestry within the population investigated. Race, ethnicity and ancestry were studied in a geographically diverse cohort of men with newly diagnosed CaP.Individual ancestry (IA was estimated in the population-based North Carolina and Louisiana Prostate Cancer Project (PCaP, a cohort of 2,106 incident CaP cases (2063 with complete ethnicity information comprising roughly equal numbers of research subjects reporting as Black/African American (AA or European American/Caucasian/Caucasian American/White (EA from North Carolina or Louisiana. Mean genome wide individual ancestry estimates of percent African, European and Asian were obtained and tested for differences by state and ethnicity (Cajun and/or Creole and Hispanic/Latino using multivariate analysis of variance models. Principal components (PC were compared to assess differences in genetic composition by self-reported race and ethnicity between and within states.Mean individual ancestries differed by state for self-reporting AA (p = 0.03 and EA (p = 0.001. This geographic difference attenuated for AAs who answered "no" to all ethnicity membership questions (non-ethnic research subjects; p = 0.78 but not EA research subjects, p = 0.002. Mean ancestry estimates of self-identified AA Louisiana research subjects for each ethnic group; Cajun only, Creole only and both Cajun and Creole differed significantly from self-identified non-ethnic AA Louisiana research subjects. These ethnicity differences were not seen in those who self-identified as EA.Mean IA differed by race between states, elucidating a potential contributing factor to these differences in AA research participants: self-reported ethnicity

  11. Genetic population structure of European sprat (Sprattus sprattus L.): differentiation across a steep environmental gradient in a small pelagic fish

    DEFF Research Database (Denmark)

    Limborg, Morten; Pedersen, Jes S.; Hansen, Jakob Hemmer

    2009-01-01

    philopatric spawning behaviour or to exhibit local retention of eggs and larvae. It thus constitutes a good model for studying population structure in a characteristic small pelagic fish with high dispersal potential and an opportunistic life history. We analysed 931 specimens of sprat from nine spawning......Factors such as oceanographic retention, isolation by distance and secondary contact zones have, among others, been suggested to explain the low, but statistically significant, neutral population structure observed in many marine fishes. European sprat Sprattus sprattus is not known to display...... locations in and around the North- and Baltic Sea area and from a geographically distant population from the Adriatic Sea. Analyses of nine microsatellite loci revealed a sharp genetic division separating samples from the Northeastern Atlantic and the Baltic Sea (pairwise θ = 0.019–0.035), concurring...

  12. Multiobjective Optimization Design of Spinal Pedicle Screws Using Neural Networks and Genetic Algorithm: Mathematical Models and Mechanical Validation

    Directory of Open Access Journals (Sweden)

    Yongyut Amaritsakul

    2013-01-01

    Full Text Available Short-segment instrumentation for spine fractures is threatened by relatively high failure rates. Failure of the spinal pedicle screws including breakage and loosening may jeopardize the fixation integrity and lead to treatment failure. Two important design objectives, bending strength and pullout strength, may conflict with each other and warrant a multiobjective optimization study. In the present study using the three-dimensional finite element (FE analytical results based on an L25 orthogonal array, bending and pullout objective functions were developed by an artificial neural network (ANN algorithm, and the trade-off solutions known as Pareto optima were explored by a genetic algorithm (GA. The results showed that the knee solutions of the Pareto fronts with both high bending and pullout strength ranged from 92% to 94% of their maxima, respectively. In mechanical validation, the results of mathematical analyses were closely related to those of experimental tests with a correlation coefficient of −0.91 for bending and 0.93 for pullout (P<0.01 for both. The optimal design had significantly higher fatigue life (P<0.01 and comparable pullout strength as compared with commercial screws. Multiobjective optimization study of spinal pedicle screws using the hybrid of ANN and GA could achieve an ideal with high bending and pullout performances simultaneously.

  13. Multiobjective optimization design of spinal pedicle screws using neural networks and genetic algorithm: mathematical models and mechanical validation.

    Science.gov (United States)

    Amaritsakul, Yongyut; Chao, Ching-Kong; Lin, Jinn

    2013-01-01

    Short-segment instrumentation for spine fractures is threatened by relatively high failure rates. Failure of the spinal pedicle screws including breakage and loosening may jeopardize the fixation integrity and lead to treatment failure. Two important design objectives, bending strength and pullout strength, may conflict with each other and warrant a multiobjective optimization study. In the present study using the three-dimensional finite element (FE) analytical results based on an L25 orthogonal array, bending and pullout objective functions were developed by an artificial neural network (ANN) algorithm, and the trade-off solutions known as Pareto optima were explored by a genetic algorithm (GA). The results showed that the knee solutions of the Pareto fronts with both high bending and pullout strength ranged from 92% to 94% of their maxima, respectively. In mechanical validation, the results of mathematical analyses were closely related to those of experimental tests with a correlation coefficient of -0.91 for bending and 0.93 for pullout (P < 0.01 for both). The optimal design had significantly higher fatigue life (P < 0.01) and comparable pullout strength as compared with commercial screws. Multiobjective optimization study of spinal pedicle screws using the hybrid of ANN and GA could achieve an ideal with high bending and pullout performances simultaneously.

  14. Depauperate genetic variability detected in the American and European bison using genomic techniques

    DEFF Research Database (Denmark)

    Pertoldi, Cino; Tokarska, Magorzata; Wójcik, Jan M

    2009-01-01

    , likely reflecting drift overwhelming selection. We suggest that utilization of genome-wide screening technologies, followed by utilization of less expensive techniques (e.g. VeraCode and Fluidigm EP1), holds large potential for genetic monitoring of populations. Additionally, these techniques will allow......A total of 929 polymorphic SNPs in EB (out of 54, 000 SNPs screened using a BovineSNP50 Illumina Genotyping BeadChip), and 1, 524 and 1, 403 polymorphic SNPs in WB and PB, respectively, were analysed. EB, WB and PB have all undergone recent drastic reductions in population size. Accordingly......, they exhibited extremely depauperate genomes, deviations from genetic equilibrium and a genome organization consisting of a mosaic of haplotype blocks: regions with low haplotype diversity and high levels of linkage disequilibrium. No evidence for positive or stabilizing selection was found in EB, WB and PB...

  15. Genetic analysis of post-mating reproductive barriers in hybridizing European Populus species.

    Science.gov (United States)

    Macaya-Sanz, D; Suter, L; Joseph, J; Barbará, T; Alba, N; González-Martínez, S C; Widmer, A; Lexer, C

    2011-10-01

    Molecular genetic analyses of experimental crosses provide important information on the strength and nature of post-mating barriers to gene exchange between divergent populations, which are topics of great interest to evolutionary geneticists and breeders. Although not a trivial task in long-lived organisms such as trees, experimental interspecific recombinants can sometimes be created through controlled crosses involving natural F(1)'s. Here, we used this approach to understand the genetics of post-mating isolation and barriers to introgression in Populus alba and Populus tremula, two ecologically divergent, hybridizing forest trees. We studied 86 interspecific backcross (BC(1)) progeny and >350 individuals from natural populations of these species for up to 98 nuclear genetic markers, including microsatellites, indels and single nucleotide polymorphisms, and inferred the origin of the cytoplasm of the cross with plastid DNA. Genetic analysis of the BC(1) revealed extensive segregation distortions on six chromosomes, and >90% of these (12 out of 13) favored P. tremula donor alleles in the heterospecific genomic background. Since selection was documented during early diploid stages of the progeny, this surprising result was attributed to epistasis, cyto-nuclear coadaptation, heterozygote advantage at nuclear loci experiencing introgression or a combination of these. Our results indicate that gene flow across 'porous' species barriers affects these poplars and aspens beyond neutral, Mendelian expectations and suggests the mechanisms responsible. Contrary to expectations, the Populus sex determination region is not protected from introgression. Understanding the population dynamics of the Populus sex determination region will require tests based on natural interspecific hybrid zones.

  16. Genetic stock identification of Atlantic salmon (Salmo salar populations in the southern part of the European range

    Directory of Open Access Journals (Sweden)

    McGinnity Philip

    2010-04-01

    Full Text Available Abstract Background Anadromous migratory fish species such as Atlantic salmon (Salmo salar have significant economic, cultural and ecological importance, but present a complex case for management and conservation due to the range of their migration. Atlantic salmon exist in rivers across the North Atlantic, returning to their river of birth with a high degree of accuracy; however, despite continuing efforts and improvements in in-river conservation, they are in steep decline across their range. Salmon from rivers across Europe migrate along similar routes, where they have, historically, been subject to commercial netting. This mixed stock exploitation has the potential to devastate weak and declining populations where they are exploited indiscriminately. Despite various tagging and marking studies, the effect of marine exploitation and the marine element of the salmon lifecycle in general, remain the "black-box" of salmon management. In a number of Pacific salmonid species and in several regions within the range of the Atlantic salmon, genetic stock identification and mixed stock analysis have been used successfully to quantify exploitation rates and identify the natal origins of fish outside their home waters - to date this has not been attempted for Atlantic salmon in the south of their European range. Results To facilitate mixed stock analysis (MSA of Atlantic salmon, we have produced a baseline of genetic data for salmon populations originating from the largest rivers from Spain to northern Scotland, a region in which declines have been particularly marked. Using 12 microsatellites, 3,730 individual fish from 57 river catchments have been genotyped. Detailed patterns of population genetic diversity of Atlantic salmon at a sub-continent-wide level have been evaluated, demonstrating the existence of regional genetic signatures. Critically, these appear to be independent of more commonly recognised terrestrial biogeographical and political

  17. Dissecting the genetic architecture of frost tolerance in Central European winter wheat.

    Science.gov (United States)

    Zhao, Yusheng; Gowda, Manje; Würschum, Tobias; Longin, C Friedrich H; Korzun, Viktor; Kollers, Sonja; Schachschneider, Ralf; Zeng, Jian; Fernando, Rohan; Dubcovsky, Jorge; Reif, Jochen C

    2013-11-01

    Abiotic stress tolerance in plants is pivotal to increase yield stability, but its genetic basis is still poorly understood. To gain insight into the genetic architecture of frost tolerance, this work evaluated a large mapping population of 1739 wheat (Triticum aestivum L.) lines and hybrids adapted to Central Europe in field trials in Germany and fingerprinted the lines with a 9000 single-nucleotide polymorphism array. Additive effects prevailed over dominance effects. A two-dimensional genome scan revealed the presence of epistatic effects. Genome-wide association mapping in combination with a robust cross-validation strategy identified one frost tolerance locus with a major effect located on chromosome 5B. This locus was not in linkage disequilibrium with the known frost loci Fr-B1 and Fr-B2. The use of the detected diagnostic markers on chromosome 5B, however, does not allow prediction of frost tolerance with high accuracy. Application of genome-wide selection approaches that take into account also loci with small effect sizes considerably improved prediction of the genetic variation of frost tolerance in wheat. The developed prediction model is valuable for improving frost tolerance because this trait displays a wide variation in occurrence across years and is therefore a difficult target for conventional phenotypic selection.

  18. Imprints from genetic drift and mutation imply relative divergence times across marine transition zones in a Pan European small pelagic fish (Sprattus sprattus)

    DEFF Research Database (Denmark)

    Limborg, Morten; Hanel, R.; Debes, P.

    2012-01-01

    Geographic distributions of most temperate marine fishes are affected by postglacial recolonisation events, which have left complex genetic imprints on populations of marine species. This study investigated population structure and demographic history of European sprat (Sprattus sprattus L.......) by combining inference from both mtDNA and microsatellite genetic markers throughout the species’ distribution. We compared effects from genetic drift and mutation for both genetic markers in shaping genetic differentiation across four transition zones. Microsatellite markers revealed significant isolation...... by distance and a complex population structure across the species0 distribution (overall yST¼0.038, Po0.01). Across transition zones markers indicated larger effects of genetic drift over mutations in the northern distribution of sprat contrasting a stronger relative impact of mutation in the species...

  19. Biomass traits and candidate genes for bioenergy revealed through association genetics in coppiced European Populus nigra (L.).

    Science.gov (United States)

    Allwright, Mike Robert; Payne, Adrienne; Emiliani, Giovanni; Milner, Suzanne; Viger, Maud; Rouse, Franchesca; Keurentjes, Joost J B; Bérard, Aurélie; Wildhagen, Henning; Faivre-Rampant, Patricia; Polle, Andrea; Morgante, Michele; Taylor, Gail

    2016-01-01

    Second generation (2G) bioenergy from lignocellulosic feedstocks has the potential to develop as a sustainable source of renewable energy; however, significant hurdles still remain for large-scale commercialisation. Populus is considered as a promising 2G feedstock and understanding the genetic basis of biomass yield and feedstock quality are a research priority in this model tree species. We report the first coppiced biomass study for 714 members of a wide population of European black poplar (Populus nigra L.), a native European tree, selected from 20 river populations ranging in latitude and longitude between 40.5 and 52.1°N and 1.0 and 16.4°E, respectively. When grown at a single site in southern UK, significant Site of Origin (SO) effects were seen for 14 of the 15 directly measured or derived traits including biomass yield, leaf area and stomatal index. There was significant correlation (p < 0.001) between biomass yield traits over 3 years of harvest which identified leaf size and cell production as strong predictors of biomass yield. A 12 K Illumina genotyping array (constructed from 10,331 SNPs in 14 QTL regions and 4648 genes) highlighted significant population genetic structure with pairwise FST showing strong differentiation (p < 0.001) between the Spanish and Italian subpopulations. Robust associations reaching genome-wide significance are reported for main stem height and cell number per leaf; two traits tightly linked to biomass yield. These genotyping and phenotypic data were also used to show the presence of significant isolation by distance (IBD) and isolation by adaption (IBA) within this population. The three associations identified reaching genome-wide significance at p < 0.05 include a transcription factor; a putative stress response gene and a gene of unknown function. None of them have been previously linked to bioenergy yield; were shown to be differentially expressed in a panel of three selected genotypes from the collection and

  20. Genetic Variation in Deep Root Growth of North-European Winter Wheat

    DEFF Research Database (Denmark)

    Ytting, Nanna Karkov

    Increased rooting depth in crops is known to enhance nitrogen use from deep soil layers and increase drought tolerance. Both parameters are known to increase productivity when natural occurring topsoil resources are scarce and input to the agricultural system is limited. Problems with nitrogen...... and scientists wish to develop screening methods that allow breeding for genotypes with increased deep root growth for effective N uptake. The study revealed that tube rhizotrons allows for screening of root traits in close-to-field conditions. It is important to perform the screening in relevant seasons...... traits were found to vary between modern North-European winter wheat cultivars including variation in depth penetration rate and root density in the deepest part of the root system. Wheat was shown to be capable of using deep N resources. After three to six weeks of root proliferation in the N rich...

  1. Population Genetic Patterns of Threatened European Mudminnow (Umbra krameri Walbaum, 1792 in a Fragmented Landscape: Implications for Conservation Management.

    Directory of Open Access Journals (Sweden)

    Péter Takács

    Full Text Available The European mudminnow (Umbra krameri is a Middle Danubian endemic fish species, which is characterised by isolated populations living mainly in artificial habitats in the centre of its range, in the Carpathian Basin. For their long term preservation, reliable information is needed about the structure of stocks and the level of isolation. The recent distribution pattern, and the population genetic structure within and among regions were investigated to designate the Evolutionary Significant, Conservation and Management Units (ESUs, CUs, MUs and to explore the conservation biological value of the shrinking populations. In total, eight microsatellite loci were studied in 404 specimens originating from eight regions. The results revealed a pronounced population structure, where strictly limited gene flow was detected among regions, as well as various strengths of connections within regions. Following the results of hierarchical structure analyses, two ESUs were supposed in the Carpathian Basin, corresponding to the Danube and Tisza catchments. Our results recommend designating the borders of CUs in an 80-90km range and 16 clusters should be set up as MUs for the 33 investigated populations. How these genetic findings can be used to better allocate conservation resources for the long term maintenance of the metapopulation structure of this threathened endemic fish is discussed.

  2. Genetic inactivation of European sea bass (Dicentrarchus labrax L. eggs using UV-irradiation: observations and perspectives.

    Directory of Open Access Journals (Sweden)

    Julie Colléter

    Full Text Available Androgenesis is a form of uniparental reproduction leading to progenies inheriting only the paternal set of chromosomes. It has been achieved with variable success in a number of freshwater species and can be attained by artificial fertilization of genetically inactivated eggs following exposure to gamma (γ, X-ray or UV irradiation (haploid androgenesis and by restoration of diploidy by suppression of mitosis using a pressure or thermal shock. The conditions for the genetic inactivation of the maternal genome in the European sea bass (Dicentrarchus labrax L. were explored using different combinations of UV irradiation levels and durations. UV treatments significantly affected embryo survival and generated a wide range of developmental abnormalities. Despite the wide range of UV doses tested (from 7.2 to 720 mJ x cm(-2, only one dose (60 mJ x cm(-2 x min(-1 with 1 min irradiation resulted in a small percentage (14% of haploid larvae at hatching in the initial trials as verified by flow cytometry. Microsatellite marker analyses of three further batches of larvae produced by using this UV treatment showed a majority of larvae with variable levels of paternal and maternal contributions and only one larva displaying pure paternal inheritance. The results are discussed also in the context of an assessment of the UV-absorbance characteristics of egg extracts in this species that revealed the presence of gadusol, a compound structurally related to mycosporine-like amino acids (MAAs with known UV-screening properties.

  3. AFLP markers for the assessment of genetic diversity in european and North American potato varieties cultivated in Iran

    Directory of Open Access Journals (Sweden)

    Saeed Tarkesh Esfahani

    2009-01-01

    Full Text Available Information about the genetic diversity of potato germplasm in Iran is important for variety identification andto enhance the classification of germplasm collections and exploit them in breeding programs and for the development andintroduction of new varieties. AFLP fingerprinting was applied to a group of cultivated potato varieties to find if there is anygeographical differentiation in potato diversity from Europe and North America. The high level of polymorphism within potatovarieties and the high number of variety-specific bands suggest that AFLPs are powerful markers for diversity analysis inpotato varieties. No region-specific AFLP markers were found (present in varieties from the same origin and absent inothers. The UPGMA dendrogram revealed four distinct clusters corresponding almost to the geographical origin of thevarieties. However, the bootstrap support for branches was rather weak. No clusters clearly distinguished varieties fromEurope and North America. Varieties from the same geographical origins however tended to group together within eachcluster. The mean similarity and the UPGMA dendrogram both suggest that North American varieties have nearly identicalgenetic diversity to European varieties. The results of AMOVA revealed large within-region variations which accounted for94.5% of the total molecular variance. The between-region variation, although accounting for only 5.5% of the total variation,was statistically significant. AFLP technology was successfully used to evaluate diversity between different geographicalgroups of potatoes and is recommended for potato genetic studies.

  4. Genetic status of the European bison Bison bonasus after extinction in the wild and subsequent recovery

    DEFF Research Database (Denmark)

    Tokarska, Malgorzata; Pertoldi, Cino; Kowalczyk, Rafal

    2011-01-01

    in the Polish part of the Bialowieza Forest is estimated to be 23.5, far less than the census population size of 450. The average inbreeding level in lowland bison is almost 50 although no signs of inbreeding depression have been observed. In contrast, inbreeding effects have been noticed in the lowland......-Caucasian line, which has a much lower average inbreeding level (28. In spite of the apparently high fitness of the lowland bison, the lack of genetic variation and high level of inbreeding may present substantial threats in the future, especially in the context of potential epizootics....

  5. Genetic counselling and testing in cardiomyopathies : a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

    NARCIS (Netherlands)

    Charron, Philippe; Arad, Michael; Arbustini, Eloisa; Basso, Cristina; Bilinska, Zofia; Elliott, Perry; Helio, Tiina; Keren, Andre; McKenna, William J.; Monserrat, Lorenzo; Pankuweit, Sabine; Perrot, Andreas; Rapezzi, Claudio; Ristic, Arsen; Seggewiss, Hubert; van Langen, Irene; Tavazzi, Luigi

    2010-01-01

    Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general

  6. Smoking and Genetic Risk Variation across Populations of European, Asian, and African-American Ancestry - A Meta-analysis of Chromosome 15q25

    OpenAIRE

    Chen, Li-Shiun; Saccone, Nancy L.; Culverhouse, Robert C.; Bracci, Paige M.; Chen, Chien-Hsiun; Dueker, Nicole; Han, Younghun; Huang, Hongyan; Jin, Guangfu; Kohno, Takashi; Ma, Jennie Z.; Przybeck, Thomas R.; Sanders, Alan R.; Smith, Jennifer A.; Sung, Yun Ju

    2012-01-01

    Recent meta-analyses of European ancestry subjects show strong evidence for association between smoking quantity and multiple genetic variants on chromosome 15q25. This meta-analysis extends the examination of association between distinct genes in the CHRNA5-CHRNA3-CHRNB4 region and smoking quantity to Asian and African American populations to confirm and refine specific reported associations.

  7. Hearing ability with age in northern European women: a new web-based approach to genetic studies.

    Directory of Open Access Journals (Sweden)

    Lisa E Wolber

    Full Text Available Age-related hearing impairment (ARHI affects 25-40% of individuals over the age of 65. Despite the high prevalence of this complex trait, ARHI is still poorly understood. We hypothesized that variance in hearing ability with age is largely determined by genetic factors. We collected audiologic data on females of Northern European ancestry and compared different audiogram representations. A web-based speech-to-noise ratio (SNR hearing test was compared with pure-tone thresholds to see if we could determine accurately hearing ability on people at home and the genetic contribution to each trait compared. Volunteers were recruited from the TwinsUK cohort. Hearing ability was determined using pure-tone audiometry and a web-based hearing test. Different audiogram presentations were compared for age-correlation and reflection of audiogram shape. Using structural equation modelling based on the classical twin model the heritability of ARHI, as measured by the different phenotypes, was estimated and shared variance between the web-based SNR test and pure-tone audiometry determined using bivariate modelling. Pure-tone audiometric data was collected on 1033 older females (age: 41-86. 1970 volunteers (males and females, age: 18-85 participated in the SNR. In the comparison between different ARHI phenotypes the difference between the first two principle components (PC1-PC2 best represented ARHI. The SNR test showed a sensitivity and specificity of 89% and 80%, respectively, in comparison with pure-tone audiogram data. Univariate heritability estimates ranged from 0.70 (95% CI: 0.63-0.76 for (PC1-PC2 to 0.56 (95% CI: 0.48-0.63 for PC2. The genetic correlation of PC1-PC2 and SNR was -0.67 showing that the 2 traits share variances attributed to additive genetic factors. Hearing ability showed considerable heritability in our sample. We have shown that the SNR test provides a useful surrogate marker of hearing. This will enable a much larger sample to be

  8. Genetic integrity of European grayling (Thymallus thymallus L. 1758 within the Vienne River drainage basin after five decades of stockings

    Directory of Open Access Journals (Sweden)

    Henri Persat

    2015-11-01

    Full Text Available European grayling of the upper Vienne River drainage basin represent the westernmost populations inside the natural distribution of the species. Since the 19th century, their extension across this sub-basin has been dramatically reduced by the harnessing of the river network for dams, initially serving mills but then hydroelectric power generation. Since the 1960s, local fishing authorities have attempted to compensate for these declines with stocking programs, but the efficiency of these efforts have never been accurately monitored. We aim to evaluate the genetic imprints of these stocking programs and thus provide an indirect measure of the long-term survival of stocked fish. Three target populations were analyzed at both mtDNA (Control Region and nDNA levels (12 µSats, and compared to populations representative of surrounding drainage basins or fish farm facilities. Among 37 "wild" fish sequenced, only three control region haplotypes were identified, all belonging to the highly divergent Loire basin lineage. Two were specific to the Upper Vienne area, and one was observed in some individuals of the most downstream location, but previously described from the upper Allier sub-drainage. Microsatellite analysis of 87 "wild" fish also demonstrated a rather low diversity within each population (but typical for the Loire drainage with all Upper Vienne individuals belonging to a single diagnosable unit. This genetic cluster was clearly distinct from all other samples including hatchery strains, which strongly supports its native origin. The only piece of evidence of a possible stocking contribution was the occurrence of the Allier haplotype, but it cannot be excluded that this haplotype was also native to this reach of river. The total lack of genetic impact of five decades of stocking deeply questions the efficacy of this management approach, at least in a regional context.

  9. Mitochondrial and nuclear DNA analysis of genetic heterogeneity among recruitment cohorts of the European flat oyster Ostrea edulis.

    Science.gov (United States)

    Taris, Nicolas; Boudry, Pierre; Bonhomme, François; Camara, Mark D; Lapègue, Sylvie

    2009-12-01

    Marine species with high fecundity and high early mortality may also have high variance in reproductive success among individuals due to stochastic factors, making successful reproduction a "sweepstakes." In some cases, the impact is sufficient to reduce the effective number of breeders in wild populations. We tested two predictions of the sweepstakes reproductive success hypothesis in a French Atlantic population of the European flat oyster, Ostrea edulis, by evaluating (1) whether individuals belonging to temporally discrete recruitment cohorts within a single reproductive season displayed reduced genetic variation relative to the entire adult population, and (2) whether these temporal cohorts of recruits were genetically differentiated from each other. We assayed genetic variation at four nuclear microsatellites and a 12S mitochondrial fragment in four recruitment cohorts. Nuclear markers provided no evidence for differentiation between recruitment cohorts and adults or between temporal cohorts. However, mitochondrial data indicate that the first temporal cohort showed significant differentiation with the last (Fst = 0.052, P < 0.05) and with the adult sample (Fst = 0.058, P < 0.05). These differences are most likely due to the smaller effective size of the mitochondrial genome-and hence its increased sensitivity to drift compared to the nuclear genome. This slight mitochondrial signal indicates a certain limitation in the number of contributing female parents in this species. The "sweepstakes" phenomenon was therefore limited in our case. Hypothetically, this phenomenon may occur or not, with a high variance as a result of the interaction between the oyster reproductive biology and different environmental conditions.

  10. [The EU law on genetically modified organisms: the European Commission changes the strategy in order to allow, restrict, or prohibit its culture].

    Science.gov (United States)

    González Vaqué, Luis

    2010-01-01

    On July 13 2010, the European Commission adopted a series of measures which outline a new approach on Genetically Modified Organisms (GMOs) cultivation in the Member States. This proposal, which still retains the basis of the existing science-based GMO authorisation system, will be implemented through: a Communication from the Commission, explaining the new approach on the freedom for Member States to decide on the cultivation of genetically modified crops; the "Proposal for a Regulation of the European Parliament and of the Council amending Directive 2001/18/EC as regards the possibility for the Member States to restrict or prohibit the cultivation of GMOs in their territory"; and a new "European Commission Recommendation (2010/C 200/01) of 13 July 2010 on guidelines for the development of national co-existence measures to avoid the unintended presence of GMOs in conventional and organic crops".

  11. Genetic architecture of skeletal evolution in European lake and stream stickleback.

    Science.gov (United States)

    Berner, Daniel; Moser, Dario; Roesti, Marius; Buescher, Heinz; Salzburger, Walter

    2014-06-01

    Advances in genomic techniques are greatly facilitating the study of molecular signatures of selection in diverging natural populations. Connecting these signatures to phenotypes under selection remains challenging, but benefits from dissections of the genetic architecture of adaptive divergence. We here perform quantitative trait locus (QTL) mapping using 488 F2 individuals and 2011 single nucleotide polymorphisms (SNPs) to explore the genetic architecture of skeletal divergence in a lake-stream stickleback system from Central Europe. We find QTLs for gill raker, snout, and head length, vertebral number, and the extent of lateral plating (plate number and height). Although two large-effect loci emerge, QTL effect sizes are generally small. Examining the neighborhood of the QTL-linked SNPs identifies several genes involved in bone formation, which emerge as strong candidate genes for skeletal evolution. Finally, we use SNP data from the natural source populations to demonstrate that some SNPs linked to QTLs in our cross also exhibit striking allele frequency differences in the wild, suggesting a causal role of these QTLs in adaptive population divergence. Our study paves the way for comparative analyses across other (lake-stream) stickleback populations, and for functional investigations of the candidate genes. © 2014 The Author(s). Evolution © 2014 The Society for the Study of Evolution.

  12. Identification of 15 genetic loci associated with risk of major depression in individuals of European descent.

    Science.gov (United States)

    Hyde, Craig L; Nagle, Michael W; Tian, Chao; Chen, Xing; Paciga, Sara A; Wendland, Jens R; Tung, Joyce Y; Hinds, David A; Perlis, Roy H; Winslow, Ashley R

    2016-09-01

    Despite strong evidence supporting the heritability of major depressive disorder (MDD), previous genome-wide studies were unable to identify risk loci among individuals of European descent. We used self-report data from 75,607 individuals reporting clinical diagnosis of depression and 231,747 individuals reporting no history of depression through 23andMe and carried out meta-analysis of these results with published MDD genome-wide association study results. We identified five independent variants from four regions associated with self-report of clinical diagnosis or treatment for depression. Loci with a P value 23andMe. A total of 17 independent SNPs from 15 regions reached genome-wide significance after joint analysis over all three data sets. Some of these loci were also implicated in genome-wide association studies of related psychiatric traits. These studies provide evidence for large-scale consumer genomic data as a powerful and efficient complement to data collected from traditional means of ascertainment for neuropsychiatric disease genomics.

  13. Artificial selection on introduced Asian haplotypes shaped the genetic architecture in European commercial pigs.

    Science.gov (United States)

    Bosse, Mirte; Lopes, Marcos S; Madsen, Ole; Megens, Hendrik-Jan; Crooijmans, Richard P M A; Frantz, Laurent A F; Harlizius, Barbara; Bastiaansen, John W M; Groenen, Martien A M

    2015-12-22

    Early pig farmers in Europe imported Asian pigs to cross with their local breeds in order to improve traits of commercial interest. Current genomics techniques enabled genome-wide identification of these Asian introgressed haplotypes in modern European pig breeds. We propose that the Asian variants are still present because they affect phenotypes that were important for ancient traditional, as well as recent, commercial pig breeding. Genome-wide introgression levels were only weakly correlated with gene content and recombination frequency. However, regions with an excess or absence of Asian haplotypes (AS) contained genes that were previously identified as phenotypically important such as FASN, ME1, and KIT. Therefore, the Asian alleles are thought to have an effect on phenotypes that were historically under selection. We aimed to estimate the effect of AS in introgressed regions in Large White pigs on the traits of backfat (BF) and litter size. The majority of regions we tested that retained Asian deoxyribonucleic acid (DNA) showed significantly increased BF from the Asian alleles. Our results suggest that the introgression in Large White pigs has been strongly determined by the selective pressure acting upon the introgressed AS. We therefore conclude that human-driven hybridization and selection contributed to the genomic architecture of these commercial pigs. © 2015 The Author(s).

  14. Reintroduction of the European Capercaillie from the Capercaillie Breeding Centre in Wisła Forest District: Genetic Assessments of Captive and Reintroduced Populations.

    Directory of Open Access Journals (Sweden)

    Tomasz Strzała

    Full Text Available The Western capercaillie (Tetrao urogallus is a specific bird species, which, despite its very broad distribution and large global population size, is highly endangered in many Western and Central European countries. According to the species situation, in many countries (including Poland, breeding and reintroduction programmes have been started. One of the most complex and large-scale reintroduction programmes was started in Bory Dolnośląskie Forest, and the Capercaillie Breeding Centre in Wisła Forest District was used as one of the sources of individuals for reintroduction. As genetic tools provide essential knowledge about species biodiversity, which is crucially important during the breeding process and reintroduction, both captive and reintroduced grouse populations were genetically analysed. We were particularly interested in genetic diversity of the individuals in both populations and the genetic relationship between them, as well as between them and other capercaillie representatives from their current range. To fulfil these goals we determined nine microsatellite loci along with a fragment of the mitochondrial control region. Genetic diversity parameters were moderate to high compared to populations from other Central and Western European countries. Both populations were clustered into three distinct genetic clades based on microsatellites. Phylogenetic analysis placed all mitochondrial haplotypes we revealed in the Eurasian clade. The present results will play an important role as they will help to preserve and maximize genetic diversity in captive populations, and will provide a basis for future monitoring of the reintroduction process.

  15. Virulence and pathogenesis of the MSW and MSD strains of Californian myxoma virus in European rabbits with genetic resistance to myxomatosis compared to rabbits with no genetic resistance.

    Science.gov (United States)

    Silvers, L; Inglis, B; Labudovic, A; Janssens, P A; van Leeuwen, B H; Kerr, P J

    2006-04-25

    The pathogenesis of two Californian strains of myxoma virus (MSW and MSD) was examined in European rabbits (Oryctolagus cuniculus) that were either susceptible to myxomatosis (laboratory rabbits) or had undergone natural selection for genetic resistance to myxomatosis (Australian wild rabbits). MSW was highly lethal for both types of rabbits with average survival times of 7.3 and 9.4 days, respectively, and 100% mortality. Classical clinical signs of myxomatosis were not present except in one rabbit that survived for 13 days following infection. Previously described clinical signs of trembling and shaking were observed in laboratory but not wild rabbits. Despite the high resistance of wild rabbits to myxomatosis caused by South American strains of myxoma virus, the MSW strain was of such high virulence that it was able to overcome resistance. The acute nature of the infection, relatively low viral titers in the tissues and destruction of lymphoid tissues, suggested that death was probably due to an acute and overwhelming immunopathological response to the virus. No virus was found in the brain. The MSD strain was attenuated compared to previously published descriptions and therefore was only characterized in laboratory rabbits. It is concluded that Californian MSW strain of myxoma virus is at the extreme end of a continuum of myxoma virus virulence but that the basic pathophysiology of the disease induced is not broadly different to other strains of myxoma virus.

  16. Genetic architecture of main effect QTL for heading date in European winter wheat.

    Science.gov (United States)

    Zanke, Christine; Ling, Jie; Plieske, Jörg; Kollers, Sonja; Ebmeyer, Erhard; Korzun, Viktor; Argillier, Odile; Stiewe, Gunther; Hinze, Maike; Beier, Sebastian; Ganal, Martin W; Röder, Marion S

    2014-01-01

    A genome-wide association study (GWAS) for heading date (HD) was performed with a panel of 358 European winter wheat (Triticum aestivum L.) varieties and 14 spring wheat varieties through the phenotypic evaluation of HD in field tests in eight environments. Genotyping data consisted of 770 mapped microsatellite loci and 7934 mapped SNP markers derived from the 90K iSelect wheat chip. Best linear unbiased estimations (BLUEs) were calculated across all trials and ranged from 142.5 to 159.6 days after the 1st of January with an average value of 151.4 days. Considering only associations with a -log10 (P-value) ≥ 3.0, a total of 340 SSR and 2983 SNP marker-trait associations (MTAs) were detected. After Bonferroni correction for multiple testing, a total of 72 SSR and 438 SNP marker-trait associations remained significant. Highly significant MTAs were detected for the photoperiodism gene Ppd-D1, which was genotyped in all varieties. Consistent associations were found on all chromosomes with the highest number of MTAs on chromosome 5B. Linear regression showed a clear dependence of the HD score BLUEs on the number of favorable alleles (decreasing HD) and unfavorable alleles (increasing HD) per variety meaning that genotypes with a higher number of favorable or a low number of unfavorable alleles showed lower HD and therefore flowered earlier. For the vernalization gene Vrn-A2 co-locating MTAs on chromosome 5A, as well as for the photoperiodism genes Ppd-A1 and Ppd-B1 on chromosomes 2A and 2B were detected. After the construction of an integrated map of the SSR and SNP markers and by exploiting the synteny to sequenced species, such as rice and Brachypodium distachyon, we were able to demonstrate that a marker locus on wheat chromosome 5BL with homology to the rice photoperiodism gene Hd6 played a significant role in the determination of the heading date in wheat.

  17. Genetic variability of the mTOR pathway and prostate cancer risk in the European Prospective Investigation on Cancer (EPIC.

    Directory of Open Access Journals (Sweden)

    Daniele Campa

    2011-02-01

    Full Text Available The mTOR (mammalian target of rapamycin signal transduction pathway integrates various signals, regulating ribosome biogenesis and protein synthesis as a function of available energy and amino acids, and assuring an appropriate coupling of cellular proliferation with increases in cell size. In addition, recent evidence has pointed to an interplay between the mTOR and p53 pathways. We investigated the genetic variability of 67 key genes in the mTOR pathway and in genes of the p53 pathway which interact with mTOR. We tested the association of 1,084 tagging SNPs with prostate cancer risk in a study of 815 prostate cancer cases and 1,266 controls nested within the European Prospective Investigation into Cancer and Nutrition (EPIC. We chose the SNPs (n = 11 with the strongest association with risk (p<0.01 and sought to replicate their association in an additional series of 838 prostate cancer cases and 943 controls from EPIC. In the joint analysis of first and second phase two SNPs of the PRKCI gene showed an association with risk of prostate cancer (OR(allele = 0.85, 95% CI 0.78-0.94, p = 1.3 x 10⁻³ for rs546950 and OR(allele = 0.84, 95% CI 0.76-0.93, p = 5.6 x 10⁻⁴ for rs4955720. We confirmed this in a meta-analysis using as replication set the data from the second phase of our study jointly with the first phase of the Cancer Genetic Markers of Susceptibility (CGEMS project. In conclusion, we found an association with prostate cancer risk for two SNPs belonging to PRKCI, a gene which is frequently overexpressed in various neoplasms, including prostate cancer.

  18. Association of genetic loci with sleep apnea in European Americans and African-Americans: the Candidate Gene Association Resource (CARe.

    Directory of Open Access Journals (Sweden)

    Sanjay R Patel

    Full Text Available Although obstructive sleep apnea (OSA is known to have a strong familial basis, no genetic polymorphisms influencing apnea risk have been identified in cross-cohort analyses. We utilized the National Heart, Lung, and Blood Institute (NHLBI Candidate Gene Association Resource (CARe to identify sleep apnea susceptibility loci. Using a panel of 46,449 polymorphisms from roughly 2,100 candidate genes on a customized Illumina iSelect chip, we tested for association with the apnea hypopnea index (AHI as well as moderate to severe OSA (AHI≥15 in 3,551 participants of the Cleveland Family Study and two cohorts participating in the Sleep Heart Health Study.Among 647 African-Americans, rs11126184 in the pleckstrin (PLEK gene was associated with OSA while rs7030789 in the lysophosphatidic acid receptor 1 (LPAR1 gene was associated with AHI using a chip-wide significance threshold of p-value<2×10(-6. Among 2,904 individuals of European ancestry, rs1409986 in the prostaglandin E2 receptor (PTGER3 gene was significantly associated with OSA. Consistency of effects between rs7030789 and rs1409986 in LPAR1 and PTGER3 and apnea phenotypes were observed in independent clinic-based cohorts.Novel genetic loci for apnea phenotypes were identified through the use of customized gene chips and meta-analyses of cohort data with replication in clinic-based samples. The identified SNPs all lie in genes associated with inflammation suggesting inflammation may play a role in OSA pathogenesis.

  19. Which lessons can we learn from the European Union legal framework of medicines for the regulation of direct-to-consumer genetic tests?

    Science.gov (United States)

    van Hellemondt, Rachèl; Hendriks, Aart; Breuning, Martijn

    2012-01-01

    The legal framework of the European Union (EU) for regulating access to and supply of direct-to-consumer (DTC) genetic tests is very liberal compared to the legal and regulatory framework for (internet) medicines. Nevertheless, both health related products can cause equally serious damage to the well being of individuals. In this contribution we examine whether the legal framework of the EU for the safety and responsible use of (internet) medicines could be an example for regulating access to and supply of DTC genetic tests. The EU laws governing medicines can, notwithstanding their shortcomings, serve as an example for (central) authorising the marketing of DTC genetic tests on the internal market in accordance with strict criteria regarding predictive value and clinical usefulness. Furthermore, a legal framework controlling DTC genetic tests also should introduce system supervision as well as quality criteria with respect to the information to be provided to consumers in order to enhance health protection. However, DTC genetic tests purchased through online ordering are difficult to supervise by any agency. Adequately protecting individuals against questionable testing kits calls for international vigilance and comprehensive measures by the international community. For Europe, it is important to rank the regulation of DTC genetic tests on the European regulatory agenda.

  20. Improving influenza virological surveillance in Europe: strain-based reporting of antigenic and genetic characterisation data, 11 European countries, influenza season 2013/14

    Science.gov (United States)

    Broberg, Eeva; Hungnes, Olav; Schweiger, Brunhilde; Prosenc, Katarina; Daniels, Rod; Guiomar, Raquel; Ikonen, Niina; Kossyvakis, Athanasios; Pozo, Francisco; Puzelli, Simona; Thomas, Isabelle; Waters, Allison; Wiman, Åsa; Meijer, Adam

    2016-01-01

    Influenza antigenic and genetic characterisation data are crucial for influenza vaccine composition decision making. Previously, aggregate data were reported to the European Centre for Disease Prevention and Control by European Union/European Economic Area (EU/EEA) countries. A system for collecting case-specific influenza antigenic and genetic characterisation data was established for the 2013/14 influenza season. In a pilot study, 11 EU/EEA countries reported through the new mechanism. We demonstrated feasibility of reporting strain-based antigenic and genetic data and ca 10% of influenza virus-positive specimens were selected for further characterisation. Proportions of characterised virus (sub)types were similar to influenza virus circulation levels. The main genetic clades were represented by A/StPetersburg/27/2011(H1N1)pdm09 and A/Texas/50/2012(H3N2). A(H1N1)pdm09 viruses were more prevalent in age groups (by years) influenza virus circulation among hospitalised patients and substantially improved the reporting of virus characterisation data. Therefore, strain-based reporting of readily available data is recommended to all reporting countries within the EU/EEA. PMID:27762211

  1. Genetic Variability and Phylogeny of European mountain ash ringspot-associated virus RNA3 and RNA4

    Directory of Open Access Journals (Sweden)

    Jenny Roßbach

    2015-11-01

    Full Text Available The European mountain ash ringspot-associated virus (EMARaV is a multipartite RNA virus of negative polarity. It infects Sorbus aucuparia (common name—rowan trees throughout their whole distribution area in North and Central Europe. It causes mottling, chlorotic ringspots and decline of the whole plant. Infected rowans are serious virus sources for rowans and other potential hosts. EMARaV incidence and population structure was investigated in Germany, Finland, Sweden, Scotland, and Norway. Overall, EMARaV variants from 42 rowan trees distributed in 20 different locations were studied with regard to the genetic variability of the p3- and p4-coding genome region, as well as the 5′ and 3′ untranslated regions (UTR of RNA3. In six of the 42 analyzed samples we found much higher sequence diversities than previously reported at the amino acid level in RNA3 encoded p3 protein sequences as well as at the nucleotide level on the 5′ and 3′ UTR. The other 36 EMARaV variants confirmed the assumed conservation of the nucleocapsid protein coding region. In contrast, the p4-coding genome region showed a high conservation of both nucleotide and amino acid sequences. Both EMARaV proteins were under strong purifying selection pressure, probably acting to maintain the functional integrity of the p3 and p4 proteins.

  2. Morphology, carbohydrate composition and vernalization response in a genetically diverse collection of Asian and European turnips (Brassica rapa subsp. rapa).

    Science.gov (United States)

    Zhang, Ningwen; Zhao, Jianjun; Lens, Frederic; de Visser, Joan; Menamo, Temesgen; Fang, Wen; Xiao, Dong; Bucher, Johan; Basnet, Ram Kumar; Lin, Ke; Cheng, Feng; Wang, Xiaowu; Bonnema, Guusje

    2014-01-01

    Brassica rapa displays enormous morphological diversity, with leafy vegetables, turnips and oil crops. Turnips (Brassica rapa subsp. rapa) represent one of the morphotypes, which form tubers and can be used to study the genetics underlying storage organ formation. In the present study we investigated several characteristics of an extensive turnip collection comprising 56 accessions from both Asia (mainly Japanese origin) and Europe. Population structure was calculated using data from 280 evenly distributed SNP markers over 56 turnip accessions. We studied the anatomy of turnip tubers and measured carbohydrate composition of the mature turnip tubers of a subset of the collection. The variation in 16 leaf traits, 12 tuber traits and flowering time was evaluated in five independent experiments for the entire collection. The effect of vernalization on flowering and tuber formation was also investigated. SNP marker profiling basically divided the turnip accessions into two subpopulations, with admixture, generally corresponding with geographical origin (Europe or Asia). The enlarged turnip tuber consists of both hypocotyl and root tissue, but the proportion of the two tissues differs between accessions. The ratio of sucrose to fructose and glucose differed among accessions, while generally starch content was low. The evaluated traits segregated in both subpopulations, with leaf shape, tuber colour and number of shoots per tuber explaining most variation between the two subpopulations. Vernalization resulted in reduced flowering time and smaller tubers for the Asian turnips whereas the European turnips were less affected by vernalization.

  3. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  4. Mathematical model of a gene regulatory network reconciles effects of genetic perturbations on hematopoietic stem cell emergence

    National Research Council Canada - National Science Library

    Narula, Jatin; Williams, C J; Tiwari, Abhinav; Marks-Bluth, Jonathon; Pimanda, John E; Igoshin, Oleg A

    2013-01-01

    ...) in response to Notch1 and Bmp4-Smad signaling. Here we employ previously published data to construct a mathematical model of this GRN network and use this model to systematically investigate the network dynamical properties...

  5. Genetics of ischaemic stroke among persons of non-European descent: a meta-analysis of eight genes involving approximately 32,500 individuals.

    Science.gov (United States)

    Ariyaratnam, Roshan; Casas, Juan P; Whittaker, John; Smeeth, Liam; Hingorani, Aroon D; Sharma, Pankaj

    2007-04-01

    Ischaemic stroke in persons of European descent has a genetic basis, but whether the stroke-susceptibility alleles, the strength of any association, and the extent of their attributable risks are the same in persons of non-European descent remains unanswered. Whether ethnicity itself has a relevant or substantial contribution on those effect estimates is controversial. Comparative analyses between the ethnic groups may allow general conclusions to be drawn about polygenic disorders. We performed a literature-based systematic review of genetic association studies in stroke in persons of non-European descent. Odds ratios (ORs) and 95% confidence intervals (CIs) were determined for each gene-disease association using fixed and random effect models. We further performed a comparative genetic analysis across the different ethnic groups (including persons of European descent derived from our previous meta-analysis) to determine if genetic risks varied by ethnicity. Following a review of 500 manuscripts, eight candidate gene variants were analysed among 32,431 individuals (12,883 cases and 19,548 controls), comprising mainly Chinese, Japanese, and Korean individuals. Of the eight candidate genes studied, three were associated with ischaemic stroke: the angiotensin I converting enzyme (ACE) insertion/deletion (I/D) polymorphism with a mean OR of 1.90 (95% CI 1.23-2.93) in the Chinese and 1.74 (95% CI 0.88-3.42) in the Japanese; the summary OR for the C677T variant of 5,10-methylenetetrahydrofolate reductase (MTHFR) was 1.18 (95% CI 0.90-1.56) in Chinese and 1.34 (95% CI 0.87-2.06) in Koreans; and the pooled OR for the apolipoprotein E (APOE) gene was 2.18 (95% CI 1.52-3.13) in Chinese and 1.51 (95% CI 0.93-2.45) in Japanese. Comparing the commonly investigated stroke genes among the Asian groups against studies in persons of European descent, we found an absence of any substantial qualitative or quantitative interaction for ORs by ethnicity. However, the number of

  6. Science and norms in policies for sustainable development: assessing and managing risks of chemical substances and genetically modified organisms in the European Union.

    Science.gov (United States)

    Karlsson, Mikael

    2006-02-01

    Use of chemical substances and genetically modified organisms cause complex problems characterised by scientific uncertainty and controversies. Aiming at sustainable development, policies for assessment, and management of risks in the two areas are under development in the European Union. The article points out that both science and norms play a central role in risk assessment as well as risk management and suggests that the precautionary principle, the principle of public participation, and the polluter pays principle, all adopted in the European Union, offer a way to operationalise the concept of sustainable development. It is shown, however, that a number of steps ought to be taken to better implement the principles through different policy measures. In doing so, and by recognising the role of both science and norms, the decision-making on risks related to the use of chemicals or genetically modified organisms can be improved to better promote sustainable development.

  7. Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project.

    LENUS (Irish Health Repository)

    Canova, Cristina

    2009-04-01

    Cancers of the upper aerodigestive tract (UADT) include malignant tumors of the oral cavity, pharynx, larynx, and esophagus and account for 6.4% of all new cancers in Europe. In the context of a multicenter case-control study conducted in 14 centers within 10 European countries and comprising 1,511 cases and 1,457 controls (ARCAGE study), 115 single nucleotide polymorphisms (SNP) from 62 a priori-selected genes were studied in relation to UADT cancer. We found 11 SNPs that were statistically associated with UADT cancers overall (5.75 expected). Considering the possibility of false-positive results, we focused on SNPs in CYP2A6, MDM2, tumor necrosis factor (TNF), and gene amplified in squamous cell carcinoma 1 (GASC1), for which low P values for trend (P trend<0.01) were observed in the main effects analyses of UADT cancer overall or by subsite. The rare variant of CYP2A6 -47A>C (rs28399433), a phase I metabolism gene, was associated with reduced UADT cancer risk (P trend=0.01). Three SNPs in the MDM2 gene, involved in cell cycle control, were associated with UADT cancer. MDM2 IVS5+1285A>G (rs3730536) showed a strong codominant effect (P trend=0.007). The rare variants of two SNPs in the TNF gene were associated with a decreased risk; for TNF IVS1+123G>A (rs1800610), the P trend was 0.007. Variants in two SNPs of GASC1 were found to be strongly associated with increased UADT cancer risk (for both, P trend=0.008). This study is the largest genetic epidemiologic study on UADT cancers in Europe. Our analysis points to potentially relevant genes in various pathways.

  8. Analysis of the genetic diversity and structure across a wide range of germplasm reveals prominent gene flow in apple at the European level.

    Science.gov (United States)

    Urrestarazu, Jorge; Denancé, Caroline; Ravon, Elisa; Guyader, Arnaud; Guisnel, Rémi; Feugey, Laurence; Poncet, Charles; Lateur, Marc; Houben, Patrick; Ordidge, Matthew; Fernandez-Fernandez, Felicidad; Evans, Kate M; Paprstein, Frantisek; Sedlak, Jiri; Nybom, Hilde; Garkava-Gustavsson, Larisa; Miranda, Carlos; Gassmann, Jennifer; Kellerhals, Markus; Suprun, Ivan; Pikunova, Anna V; Krasova, Nina G; Torutaeva, Elnura; Dondini, Luca; Tartarini, Stefano; Laurens, François; Durel, Charles-Eric

    2016-06-08

    The amount and structure of genetic diversity in dessert apple germplasm conserved at a European level is mostly unknown, since all diversity studies conducted in Europe until now have been performed on regional or national collections. Here, we applied a common set of 16 SSR markers to genotype more than 2,400 accessions across 14 collections representing three broad European geographic regions (North + East, West and South) with the aim to analyze the extent, distribution and structure of variation in the apple genetic resources in Europe. A Bayesian model-based clustering approach showed that diversity was organized in three groups, although these were only moderately differentiated (FST = 0.031). A nested Bayesian clustering approach allowed identification of subgroups which revealed internal patterns of substructure within the groups, allowing a finer delineation of the variation into eight subgroups (FST = 0.044). The first level of stratification revealed an asymmetric division of the germplasm among the three groups, and a clear association was found with the geographical regions of origin of the cultivars. The substructure revealed clear partitioning of genetic groups among countries, but also interesting associations between subgroups and breeding purposes of recent cultivars or particular usage such as cider production. Additional parentage analyses allowed us to identify both putative parents of more than 40 old and/or local cultivars giving interesting insights in the pedigree of some emblematic cultivars. The variation found at group and subgroup levels may reflect a combination of historical processes of migration/selection and adaptive factors to diverse agricultural environments that, together with genetic drift, have resulted in extensive genetic variation but limited population structure. The European dessert apple germplasm represents an important source of genetic diversity with a strong historical and patrimonial value. The present

  9. Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1.

    Science.gov (United States)

    Nippert, Irmgard; Harris, Hilary J; Julian-Reynier, Claire; Kristoffersson, Ulf; Ten Kate, Leo P; Anionwu, Elizabeth; Benjamin, Caroline; Challen, Kirsty; Schmidtke, Jörg; Nippert, R Peter; Harris, Rodney

    2011-03-01

    Western health care systems are facing today increasing movement of genetic knowledge from research labs into clinical practice. This paper reports the results of a survey that addressed the confidence of primary care physicians in their ability to carry out basic medical genetic tasks. The survey was conducted in five countries (France, Germany, The Netherlands, Sweden and the UK). Stratified random samples were drawn from primary care physicians in the five countries representing a sampling frame of 139,579 physicians. Stepwise binary logistic regression procedures were performed to identify the predictor variables for self-reported confidence. Three thousand six hundred eighty-six physicians participated and filled out a self-administered questionnaire. The margin of error for accurate representation of each group of European general practitioners and specialists in the total sample is 2.9% for GP, 2.8% for obstetricians/gynaecologists (OB/GYN) and for paediatricians (PAED) 2.6% (95% confidence level). Confidence in their ability to carry out basic medical genetic tasks is low among participating primary care physicians: 44.2% are not confident, 36.5% somewhat confident, confident or very confident are 19.3%. In each country, those confident/very confident represent less than 33% of the participating physicians. Primary care physicians who report the lowest levels of confidence prove to be those least exposed to medical genetics information and training. Although there are significant differences in the way in which professional education is organised and practice is regulated across European countries, there is a need for a coordinated European effort to improve primary care physicians' background in medical genetics.

  10. Race, Gender, and Genetic Polymorphism Contribute to Variability in Acetaminophen Pharmacokinetics, Metabolism, and Protein-Adduct Concentrations in Healthy African-American and European-American Volunteers.

    Science.gov (United States)

    Court, Michael H; Zhu, Zhaohui; Masse, Gina; Duan, Su X; James, Laura P; Harmatz, Jerold S; Greenblatt, David J

    2017-09-01

    Over 30 years ago, black Africans from Kenya and Ghana were shown to metabolize acetaminophen faster by glucuronidation and slower by oxidation compared with white Scottish Europeans. The objectives of this study were to determine whether similar differences exist between African-Americans and European-Americans, and to identify genetic polymorphisms that could explain these potential differences. Acetaminophen plasma pharmacokinetics and partial urinary metabolite clearances via glucuronidation, sulfation, and oxidation were determined in healthy African-Americans (18 men, 23 women) and European-Americans (34 men, 20 women) following a 1-g oral dose. There were no differences in acetaminophen total plasma, glucuronidation, or sulfation clearance values between African-Americans and European-Americans. However, median oxidation clearance was 37% lower in African-Americans versus European-Americans (0.57 versus 0.90 ml/min per kilogram; P = 0.0001). Although acetaminophen total or metabolite clearance values were not different between genders, shorter plasma half-life values (by 11-14%; P acetaminophen, acetaminophen glucuronide, and acetaminophen sulfate in women versus men. The UGT2B15*2 polymorphism was associated with variant-allele-number proportional reductions in acetaminophen total clearance (by 15-27%; P acetaminophen protein-adduct concentrations than *1/*2 (by 42%; P = 0.003) and *1/*1 (by 41%; P = 0.003) individuals. Finally, CYP2E1 *1D/*1D genotype African-Americans had lower oxidation clearance than *1C/*1D (by 42%; P = 0.041) and *1C/*1C (by 44%; P = 0.048) African-Americans. Consequently, African-Americans oxidize acetaminophen more slowly than European-Americans, which may be partially explained by the CYP2E1*1D polymorphism. UGT2B15*2 influences acetaminophen pharmacokinetics in both African-Americans and European-Americans. Copyright © 2017 by The American Society for Pharmacology and Experimental Therapeutics.

  11. The probability of parallel genetic evolution from standing genetic variation.

    Science.gov (United States)

    MacPherson, A; Nuismer, S L

    2017-02-01

    Parallel evolution is often assumed to result from repeated adaptation to novel, yet ecologically similar, environments. Here, we develop and analyse a mathematical model that predicts the probability of parallel genetic evolution from standing genetic variation as a function of the strength of phenotypic selection and constraints imposed by genetic architecture. Our results show that the probability of parallel genetic evolution increases with the strength of natural selection and effective population size and is particularly likely to occur for genes with large phenotypic effects. Building on these results, we develop a Bayesian framework for estimating the strength of parallel phenotypic selection from genetic data. Using extensive individual-based simulations, we show that our estimator is robust across a wide range of genetic and evolutionary scenarios and provides a useful tool for rigorously testing the hypothesis that parallel genetic evolution is the result of adaptive evolution. An important result that emerges from our analyses is that existing studies of parallel genetic evolution frequently rely on data that is insufficient for distinguishing between adaptive evolution and neutral evolution driven by random genetic drift. Overcoming this challenge will require sampling more populations and the inclusion of larger numbers of loci. © 2016 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2016 European Society For Evolutionary Biology.

  12. Genetic architecture is more complex for resistance to Septoria tritici blotch than to Fusarium head blight in Central European winter wheat.

    Science.gov (United States)

    Mirdita, Vilson; Liu, Guozheng; Zhao, Yusheng; Miedaner, Thomas; Longin, C Friedrich H; Gowda, Manje; Mette, Michael Florian; Reif, Jochen C

    2015-06-05

    Fusarium head blight (FHB) and Septoria tritici blotch (STB) severely impair wheat production. With the aim to further elucidate the genetic architecture underlying FHB and STB resistance, we phenotyped 1604 European wheat hybrids and their 135 parental lines for FHB and STB disease severities and determined genotypes at 17,372 single-nucleotide polymorphic loci. Cross-validated association mapping revealed the absence of large effect QTL for both traits. Genomic selection showed a three times higher prediction accuracy for FHB than STB disease severity for test sets largely unrelated to the training sets. Our findings suggest that the genetic architecture is less complex and, hence, can be more properly tackled to perform accurate prediction for FHB than STB disease severity. Consequently, FHB disease severity is an interesting model trait to fine-tune genomic selection models exploiting beyond relatedness also knowledge of the genetic architecture.

  13. Novel avian oropharyngeal trichomonads isolated from European turtle doves (Streptopelia turtur) and racing pigeons (Columba livia): genetic and morphometric characterisation of clonal cultures.

    Science.gov (United States)

    Martínez-Herrero, M C; Garijo-Toledo, M M; Liebhart, D; Ganas, P; Martínez-Díaz, R A; Ponce-Gordo, F; Carrero-Ruiz, A; Hess, M; Gómez-Muñoz, M T

    2017-11-01

    Extensive diversity has been described within the avian oropharyngeal trichomonad complex in recent years. In this study we developed clonal cultures from four isolates selected by their different ITS1/5.8S/ITS2 (ITS) genotype and their association with gross lesions of avian trichomonosis. Isolates were obtained from an adult racing pigeon and a nestling of Eurasian eagle owl with macroscopic lesions, and from a juvenile wood pigeon and an European turtle dove without clinical signs. Multi-locus sequence typing analysis of the ITS, small subunit of ribosomal rRNA (SSUrRNA) and Fe-hydrogenase (Fe-hyd) genes together with a morphological study by optical and scanning electron microscopy was performed. No significant differences in the structures were observed with scanning electron microscopy. However, the genetic characterisation revealed novel sequence types for the SSUrRNA region and Fe-hyd gene. Two clones were identified as Trichomonas gallinae in the MLST analysis, but the clones from the racing pigeon and European turtle dove showed higher similarity with Trichomonas tenax and Trichomonas canistomae than with T. gallinae at their ITS region, respectively. SSUrRNA sequences grouped all the clones in a clade that includes T. gallinae, T. tenax and T. canistomae. Further diversity was detected within the Fe-hyd locus, with a clear separation from T. gallinae of the clones obtained from the racing pigeon and the European turtle dove. In addition, morphometric comparison by optical microscopy with clonal cultures of T. gallinae revealed significant statistical differences on axostyle projection length in the clone from the European turtle dove. Morphometric and genetic data indicate that possible new species within the Trichomonas genus were detected. Taking in consideration the diversity in Trichomonas species present in the oral cavity of birds, a proper genetic analysis is highly recommended when outbreaks occur. Copyright © 2017 Elsevier B.V. All rights

  14. Scientific Opinion on a request from the European Commission related to the emergency measure notified by Luxembourg on genetically modified maize MON 810 according to Article 34 of Regulation (EC) No 1829/2003

    OpenAIRE

    EFSA Panel on Genetically Modified Organisms (GMO)

    2013-01-01

    Following a request of the European Commission, the European Food Safety Authority’s Panel on Genetically Modified Organisms (EFSA GMO Panel) evaluated the documentation submitted by Luxembourg in support of its request for the prohibition of the placing on the market of the genetically modified maize MON 810 according to Article 34 of Regulation (EC) No 1829/2003. All concerns related to human and animal health or the environment raised by Luxembourg were already addressed in previous scient...

  15. Scientific Opinion on a request from the European Commission related to the emergency measure notified by Italy on genetically modified maize MON 810 according to Article 34 of Regulation (EC) No 1829/2003

    OpenAIRE

    EFSA Panel on Genetically Modified Organisms (GMO)

    2013-01-01

    Following a request of the European Commission, the European Food Safety Authority’s Panel on Genetically Modified Organisms (EFSA GMO Panel) evaluated the documentation submitted by Italy in support of its request for the prohibition of the placing on the market of the genetically modified maize MON 810 according to Article 34 of Regulation (EC) No 1829/2003. All concerns related to human and animal health or the environment raised by Italy were already addressed in previous scientific opini...

  16. Mathematical Competences

    DEFF Research Database (Denmark)

    Westphael, Henning; Mogensen, Arne

    2013-01-01

    In this article we present the notion of Mathematical competences as a tool to describe the mathematically gifted students.......In this article we present the notion of Mathematical competences as a tool to describe the mathematically gifted students....

  17. Genetic diversity and genetic structure of Persian walnut (Juglans regia) accessions from 14 European, African, and Asian countries using SSR markers

    NARCIS (Netherlands)

    Ebrahimi, Aziz; Zarei, Abdolkarim; Lawson, Shaneka; Woeste, Keith E.; Smulders, M.J.M.

    2016-01-01

    Persian walnut (Juglans regia L.) is the world’s most widely grown nut crop, but large-scale assessments and comparisons of the genetic diversity of the crop are notably lacking. To guide the conservation and utilization of Persian walnut genetic resources, genotypes (n = 189) from 25 different

  18. Genetic diversity and genetic structure of Persian walnut (Juglans regia) accessions from 14 European, African, and Asian countries using SSR markers

    Science.gov (United States)

    Aziz Ebrahimi; Abdolkarim Zarei; Shaneka Lawson; Keith E. Woeste; M. J. M. Smulders

    2016-01-01

    Persian walnut (Juglans regia L.) is the world's most widely grown nut crop, but large-scale assessments and comparisons of the genetic diversity of the crop are notably lacking. To guide the conservation and utilization of Persian walnut genetic resources, genotypes (n = 189) from 25 different regions in 14 countries on...

  19. Temporal differentiation across a West-European Y-chromosomal cline: genealogy as a tool in human population genetics

    OpenAIRE

    Larmuseau, Maarten HD; Ottoni, Claudio; Raeymaekers, Joost AM; Vanderheyden, Nancy; Larmuseau, Hendrik FM; Decorte, Ronny

    2011-01-01

    The pattern of population genetic variation and allele frequencies within a species are unstable and are changing over time according to different evolutionary factors. For humans, it is possible to combine detailed patrilineal genealogical records with deep Y-chromosome (Y-chr) genotyping to disentangle signals of historical population genetic structures because of the exponential increase in genetic genealogical data. To test this approach, we studied the temporal pattern of the ‘autochthon...

  20. Genetic integrity of the Dark European honey bee (Apis mellifera mellifera) from protected populations: a genome-wide assessment using SNPs and mtDNA sequence data

    DEFF Research Database (Denmark)

    Pinto, M Alice; Henriques, Dora; Chávez-Galarza, Julio

    2014-01-01

    The recognition that the Dark European honey bee, Apis mellifera mellifera, is increasingly threatened in its native range has led to the establishment of conservation programmes and protected areas throughout western Europe. Previous molecular surveys showed that, despite management strategies...... to preserve the genetic integrity of A. m. mellifera, protected populations had a measurable component of their gene pool derived from commercial C-lineage honey bees. Here we used both sequence data from the tRNAleu-cox2 intergenic mtDNA region and a genome-wide scan, with over 1183 single nucleotide...... polymorphisms (SNPs), to assess genetic diversity and introgression levels in several protected populations of A. m. mellifera, which were then compared with samples collected from unprotected populations. MtDNA analysis of the protected populations revealed a single colony bearing a foreign haplotype, whereas...

  1. Genetics

    Science.gov (United States)

    ... Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... mother and medications). These include: Asthma Cancer Coronary heart disease Diabetes Hypertension Stroke MITOCHONDRIAL DNA-LINKED DISORDERS Mitochondria ...

  2. Identification of Novel Inherited Genetic Markers for Aggressive PCa in European and African Americans Using Whole Genome Sequencing

    Science.gov (United States)

    2014-10-01

    SpectroCHIP arrays (silicon chips consisting of 384 elements on which extension products are spotted), a MALDI - TOF mass spectrometer, and...the novel genetic variants using mass spectrometry directed sequencing; and 3) To perform association tests of implicated genetic variants among

  3. Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

    NARCIS (Netherlands)

    Zhao, Zhiguo; Wen, Wanqing; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Zhang, Ben; Long, Jirong; Shu, Xiao-Ou; Schmidt, Marjanka K; Milne, Roger L; García-Closas, Montserrat; Chang-Claude, Jenny; Lindstrom, Sara; Bojesen, Stig E; Ahsan, Habibul; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Blomqvist, Carl; Bogdanova, Natalia V; Børresen-Dale, Anne-Lise; Brand, Judith; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Cai, Qiuyin; Casey, Graham; Chenevix-Trench, Georgia; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Dörk, Thilo; Dumont, Martine; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gammon, Marilie; Giles, Graham G; Guénel, Pascal; Haiman, Christopher A; Hamann, Ute; Harrington, Patricia; Hartman, Mikael; Hooning, Maartje J; Hopper, John L; Jakubowska, Anna; Jasmine, Farzana; John, Esther M; Johnson, Nichola; Kabisch, Maria; Khan, Sofia; Kibriya, Muhammad; Knight, Julia A; Kosma, Veli-Matti; Kriege, Mieke; Kristensen, Vessela; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Luben, Robert; Lubinski, Jan; Malone, Kathleen E; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Miao, Hui; Muir, Kenneth; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Olson, Janet E; Perkins, Barbara; Peterlongo, Paolo; Phillips, Kelly-Anne; Pylkäs, Katri; Rudolph, Anja; Santella, Regina; Sawyer, Elinor J; Schmutzler, Rita K; Schoemaker, Minouk; Shah, Mitul; Shrubsole, Martha; Southey, Melissa C; Swerdlow, Anthony J; Toland, Amanda E; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Ursin, Giske; Van Der Luijt, Rob B; Verhoef, Senno; Wang-Gohrke, Shan; Whittemore, Alice S; Winqvist, Robert; Pilar Zamora, M; Zhao, Hui; Dunning, Alison M; Simard, Jacques; Hall, Per; Kraft, Peter; Pharoah, Paul; Hunter, David; Easton, Douglas F; Zheng, Wei

    2016-01-01

    PURPOSE: Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. METHODS: We constructed a genetic risk score (GRS) using risk variants from 33 known independent T2D

  4. Evolutionary mechanisms shaping the genetic population structure of marine fishes; lessons from the European flounder ( Platichthys flesus L.)

    DEFF Research Database (Denmark)

    Hansen, Jakob Hemmer; Eg Nielsen, Einar; Grønkjær, P.

    2007-01-01

    A number of evolutionary mechanisms have been suggested for generating low but significant genetic structuring among marine fish populations. We used nine microsatellite loci and recently developed methods in landscape genetics and coalescence-based estimation of historical gene flow and effectiv...... interplay with other evolutionary mechanisms, highlighting the importance of investigating species with wide geographical and ecological distributions to increase our understanding of evolution in the marine environment.......A number of evolutionary mechanisms have been suggested for generating low but significant genetic structuring among marine fish populations. We used nine microsatellite loci and recently developed methods in landscape genetics and coalescence-based estimation of historical gene flow and effective...... and western Baltic Sea samples. Alternative factors, such as dispersal potential and/or environmental gradients, could be important for generating genetic divergence in this region. The results show that the magnitude and scale of structuring generated by a specific mechanism depend critically on its...

  5. HLA-DRB1 and -DQB1 loci in three west African ethnic groups: genetic relationship with sub-Saharan African and European populations.

    Science.gov (United States)

    Lulli, Patrizia; Mangano, Valentina D; Onori, Annamaria; Batini, Chiara; Luoni, Gaia; Sirima, Bienvenu S; Nebie, Issa; Chessa, Luciana; Petrarca, Vincenzo; Modiano, David

    2009-11-01

    The Fulani of west Africa have been shown to be less susceptible to malaria and to mount a stronger immune response to malaria than sympatric ethnic groups. The analysis of HLA diversity is useful for the assessment of the genetic distance between the Fulani and sympatric populations, which represents the necessary theoretical background for the investigation of genetic determinants of susceptibility to malaria. We assessed the polymorphism of HLA-DRB1 and -DQB1 loci and analyzed the distribution of alleles/haplotypes in Fulani, Mossi, and Rimaibé from Burkina Faso. We then investigated the genetic relationship of these three ethnic groups with other sub-Saharan African populations as well as with Europeans. We confirmed that the Fulani from Burkina Faso are genetically distinct from sympatric Mossi and Rimaibé. Furthermore the Fulani from Burkina Faso are close to those from The Gambia and, intriguingly, share the distribution of specific alleles with east African populations (Amhara and Oromo). It is noteworthy that the HLA-DRB1*04 and -DQB1*02 alleles, which are implicated in the development of several autoimmune diseases, are present at high frequency in the Fulani, suggesting their potential involvement in the enhanced immune reactivity observed in this population.

  6. Loss of genetic variation in Greek hatchery populations of the European sea bass (Dicentrarchus labrax L. as revealed by microsatellite DNA analysis

    Directory of Open Access Journals (Sweden)

    D. LOUKOVITIS

    2014-10-01

    Full Text Available Genetic variation in four reared stocks of European sea bass Dicentrarchus labrax L., originating from Greek commercial farms, was assessed using five polymorphic microsatellite markers and was compared with that of three natural populations from Greece and France. The total number of alleles per marker ranged from 8 to 22 alleles, and hatchery samples showed the same levels of observed heterozygosity with samples from the wild but substantially smaller allelic richness and expected heterozygosity. The genetic differentiation of cultivated samples between them as well as from the wild origin fish was significant as indicated by Fst analysis. All population pairwise comparisons were statistically significant, except for the pair of the two natural Greek populations. Results of microsatellite DNA analysis herein showed a 37 % reduction of the mean allele number in the hatchery samples compared to the wild ones, suggesting random genetic drift and inbreeding events operating in the hatcheries. Knowledge of the genetic variation in D. labrax cultured populations compared with that in the wild ones is essential for setting up appropriate guidelines for proper monitoring and management of the stocks either under traditional practices or for the implementation of selective breeding programmes.

  7. Genome-wide association study and genetic diversity analysis on nitrogen use efficiency in a Central European winter wheat (Triticum aestivum L. collection.

    Directory of Open Access Journals (Sweden)

    István Monostori

    Full Text Available To satisfy future demands, the increase of wheat (Triticum aestivum L. yield is inevitable. Simultaneously, maintaining high crop productivity and efficient use of nutrients, especially nitrogen use efficiency (NUE, are essential for sustainable agriculture. NUE and its components are inherently complex and highly influenced by environmental factors, nitrogen management practices and genotypic variation. Therefore, a better understanding of their genetic basis and regulation is fundamental. To investigate NUE-related traits and their genetic and environmental regulation, field trials were evaluated in a Central European wheat collection of 93 cultivars at two nitrogen input levels across three seasons. This elite germplasm collection was genotyped on DArTseq® genotypic platform to identify loci affecting N-related complex agronomic traits. To conduct robust genome-wide association mapping, the genetic diversity, population structure and linkage disequilibrium were examined. Population structure was investigated by various methods and two subpopulations were identified. Their separation is based on the breeding history of the cultivars, while analysis of linkage disequilibrium suggested that selective pressures had acted on genomic regions bearing loci with remarkable agronomic importance. Besides NUE, genetic basis for variation in agronomic traits indirectly affecting NUE and its components, moreover genetic loci underlying response to nitrogen fertilisation were also determined. Altogether, 183 marker-trait associations (MTA were identified spreading over almost the entire genome. We found that most of the MTAs were environmental-dependent. The present study identified several associated markers in those genomic regions where previous reports had found genes or quantitative trait loci influencing the same traits, while most of the MTAs revealed new genomic regions. Our data provides an overview of the allele composition of bread wheat

  8. Generalist genes and learning disabilities: a multivariate genetic analysis of low performance in reading, mathematics, language and general cognitive ability in a sample of 8000 12-year-old twins.

    Science.gov (United States)

    Haworth, Claire M A; Kovas, Yulia; Harlaar, Nicole; Hayiou-Thomas, Marianna E; Petrill, Stephen A; Dale, Philip S; Plomin, Robert

    2009-10-01

    Our previous investigation found that the same genes influence poor reading and mathematics performance in 10-year-olds. Here we assess whether this finding extends to language and general cognitive disabilities, as well as replicating the earlier finding for reading and mathematics in an older and larger sample. Using a representative sample of 4000 pairs of 12-year-old twins from the UK Twins Early Development Study, we investigated the genetic and environmental overlap between internet-based batteries of language and general cognitive ability tests in addition to tests of reading and mathematics for the bottom 15% of the distribution using DeFries-Fulker extremes analysis. We compared these results to those for the entire distribution. All four traits were highly correlated at the low extreme (average group phenotypic correlation = .58). and in the entire distribution (average phenotypic correlation = .59). Genetic correlations for the low extreme were consistently high (average = .67), and non-shared environmental correlations were modest (average = .23). These results are similar to those seen across the entire distribution (.68 and .23, respectively). The 'Generalist Genes Hypothesis' holds for language and general cognitive disabilities, as well as reading and mathematics disabilities. Genetic correlations were high, indicating a strong degree of overlap in genetic influences on these diverse traits. In contrast, non-shared environmental influences were largely specific to each trait, causing phenotypic differentiation of traits.

  9. Clonality and spatial genetic structure in Populus x canescens and its sympatric backcross parent P. alba in a Central European hybrid zone.

    Science.gov (United States)

    van Loo, Marcela; Joseph, Jeffrey A; Heinze, Berthold; Fay, Mike F; Lexer, Christian

    2008-01-01

    Spatial genetic structure (SGS) holds the key to understanding the role of clonality in hybrid persistence, but multilocus SGS in hybrid zones has rarely been quantified. Here, the aim was to fill this gap for natural hybrids between two diploid, ecologically divergent European tree species with mixed sexual/asexual reproduction, Populus alba and P. tremula. Nuclear microsatellites were used to quantify clonality, SGS, and historical gene dispersal distances in up to 407 trees from an extensive Central European hybrid zone including three subpopulation replicates. The focus was on P. x canescens and its backcross parent P. alba, as these two genotypic classes co-occur and interact directly. Sexual recombination in both taxa was more prominent than previously thought, but P. x canescens hybrids tended to build larger clones extending over larger areas than P. alba. The 3.4 times stronger SGS in the P. x canescens genet population was best explained by a combination of interspecific gene flow, assortative mating, and increased clonality in hybrids. Clonality potentially contributes to the maintenance of hybrid zones of P. alba and P. tremula in time and space. Both clonality and SGS need to be taken into account explicitly when designing population genomics studies of locus-specific effects in hybrid zones.

  10. Distribution of Anisakis larvae, identified by genetic markers, and their use for stock characterization of demersal and pelagic fish from European waters: an update.

    Science.gov (United States)

    Mattiucci, S; Abaunza, P; Damiano, S; Garcia, A; Santos, M N; Nascetti, G

    2007-06-01

    In the present paper, recent results obtained on the use of different distributions observed in larval species of Anisakis, genetically identified by means of allozyme markers, for stock characterization of demersal (Merluccius merluccius), small (Trachurus trachurus) and large pelagic (Xiphias gladius) finfish species in European waters, are reviewed and discussed. Several species of Anisakis were identified in the three fish hosts: A. simplex (s.s.), A. physeteris, A. typica, A. ziphidarum, A. pegreffii, A. brevispiculata and A. paggiae. Canonical discriminant analysis performed on all the samples of the three fish species collected in areas comprising their geographical range, according to the different species of Anisakis identified, showed distinct fish populations in European waters. In all the three fish hosts, the pattern of distribution of Anisakis larvae allowed discrimination of Mediterranean stocks from Atlantic stocks. In the case of swordfish, the possible existence of a southern Atlantic stock separated from a northern one is also suggested. Congruence and discordance with the population genetic data inferred from allozyme markers on the same samples of the three fish species are also discussed.

  11. Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

    DEFF Research Database (Denmark)

    Zhao, Zhiguo; Wen, Wanqing; Michailidou, Kyriaki

    2016-01-01

    susceptibility loci and evaluated its relation to breast cancer risk using the data from two consortia, including 62,328 breast cancer patients and 83,817 controls of European ancestry. Unconditional logistic regression models were used to derive adjusted odds ratios (ORs) and 95 % confidence intervals (CIs...

  12. Genetic polymorphisms in CYP1A1, CYP1B1 and COMT genes in Greenlandic Inuit and Europeans

    DEFF Research Database (Denmark)

    Ghisari, Mandana; Long, Manhai; Bonefeld-Jørgensen, Eva Cecilie

    2013-01-01

    . Objectives. The aim of this study was to determine and compare the genotype and allele frequencies of the cytochrome P450 CYP1A1 Ile462Val (rs1048943), CYP1B1 Leu432Val (rs1056836) and catechol-O-methyltransferase COMT Val158Met (rs4680) in Greenlandic Inuit (n=254) and Europeans (n=262) and explore...

  13. Genetic spatial structure of European common hamsters (Cricetus cricetus) - a result of repeated range expansion and demographic bottlenecks

    NARCIS (Netherlands)

    Neumann, K.; Michaux, R.; Maak, S.; Jansman, H.A.H.; Kayser, A.; Mundt, G.; Gattermann, R.

    2005-01-01

    The spatial genetic structure of common hamsters (Cricetus cricetus) was investigated using three partial mitochondrial (mt) genes and 11 nuclear microsatellite loci. All marker systems revealed significant population differentiation across Europe. Hamsters in central and western Europe belong

  14. Common genetic risk variants of TLR2 are not associated with periodontitis in large European case-control populations

    NARCIS (Netherlands)

    Richter, G.M.; Graetz, C.; Pohler, P.; Nothnagel, M.; Dommisch, H.; Laine, M.L.; Folwaczny, M.; Noack, B.; Eickholz, P.; Groessner-Schreiber, B.; Jepsen, S.; Loos, B.G.; Schreiber, S.; Schaefer, A.S.

    2012-01-01

    Aim Involvement of TLR2 in the pathophysiology of periodontitis has widely been discussed, but hitherto, no validated genetic associations were reported. Previous association studies lacked sufficient statistical power and adequate haplotype information to draw unambiguous conclusions. The aim of

  15. Innovative and collaborative industrial mathematics in Europe

    Science.gov (United States)

    2017-01-01

    This paper presents a brief review of how industrial mathematics, inspired by the Oxford Study Group activity, organized itself in Europe, gave rise to the European Consortium for Mathematics in Industry, the series of European Study Groups with Industry, and to new modes of productive contacts between industry and applied mathematicians in academia. PMID:28588414

  16. Innovative and collaborative industrial mathematics in Europe

    DEFF Research Database (Denmark)

    Hjorth, Poul G.

    2017-01-01

    This paper presents a brief review of how industrial mathematics, inspired by the Oxford Study Group activity, organized itself in Europe, gave rise to the European Consortium for Mathematics in Industry, the series of European Study Groups with Industry, and to new modes of productive contacts...

  17. Mathematics Connection

    African Journals Online (AJOL)

    MATHEMATICS CONNECTION aims at providing a forum topromote the development of Mathematics Education in Ghana. Articles that seekto enhance the teaching and/or learning of mathematics at all levels of theeducational system are welcome.

  18. Temporal differentiation across a West-European Y-chromosomal cline: genealogy as a tool in human population genetics.

    Science.gov (United States)

    Larmuseau, Maarten H D; Ottoni, Claudio; Raeymaekers, Joost A M; Vanderheyden, Nancy; Larmuseau, Hendrik F M; Decorte, Ronny

    2012-04-01

    The pattern of population genetic variation and allele frequencies within a species are unstable and are changing over time according to different evolutionary factors. For humans, it is possible to combine detailed patrilineal genealogical records with deep Y-chromosome (Y-chr) genotyping to disentangle signals of historical population genetic structures because of the exponential increase in genetic genealogical data. To test this approach, we studied the temporal pattern of the 'autochthonous' micro-geographical genetic structure in the region of Brabant in Belgium and the Netherlands (Northwest Europe). Genealogical data of 881 individuals from Northwest Europe were collected, from which 634 family trees showed a residence within Brabant for at least one generation. The Y-chr genetic variation of the 634 participants was investigated using 110 Y-SNPs and 38 Y-STRs and linked to particular locations within Brabant on specific time periods based on genealogical records. Significant temporal variation in the Y-chr distribution was detected through a north-south gradient in the frequencies distribution of sub-haplogroup R1b1b2a1 (R-U106), next to an opposite trend for R1b1b2a2g (R-U152). The gradient on R-U106 faded in time and even became totally invisible during the Industrial Revolution in the first half of the nineteenth century. Therefore, genealogical data for at least 200 years are required to study small-scale 'autochthonous' population structure in Western Europe.

  19. Whole genome semiconductor based sequencing of farmed European sea bass (Dicentrarchus labrax) Mediterranean genetic stocks using a DNA pooling approach.

    Science.gov (United States)

    Bertolini, Francesca; Geraci, Claudia; Schiavo, Giuseppina; Sardina, Maria Teresa; Chiofalo, Vincenzo; Fontanesi, Luca

    2016-08-01

    European sea bass (Dicentrarchus labrax) is an important marine species for commercial and sport fisheries and aquaculture production. Recently, the European sea bass genome has been sequenced and assembled. This resource can open new opportunities to evaluate and monitor variability and identify variants that could contribute to the adaptation to farming conditions. In this work, two DNA pools constructed from cultivated European sea bass were sequenced using a next generation semiconductor sequencing approach based on Ion Proton sequencer. Using the first draft version of the D. labrax genome as reference, sequenced reads obtained a total of about 1.6 million of single nucleotide polymorphisms (SNPs), spread all over the chromosomes. Transition/transversion (Ti/Tv) was equal to 1.28, comparable to what was already reported in Salmon species. A pilot homozygosity analysis across the D. labrax genome using DNA pool sequence datasets indicated that this approach can identify chromosome regions with putative signatures of selection, including genes involved in ion transport and chloride channel functions, amino acid metabolism and circadian clock and related neurological systems. This is the first study that reported genome wide polymorphisms in a fish species obtained with the Ion Proton sequencer. Moreover, this study provided a methodological approach for selective sweep analysis in this species. Copyright © 2016 Elsevier B.V. All rights reserved.

  20. Genetic drift and selection effects of modified recurrent full-sib selection programs in two F2 populations of European flint maize.

    Science.gov (United States)

    Flachenecker, C; Frisch, M; Falke, K C; Melchinger, A E

    2006-10-01

    Selection response of a modified recurrent full-sib (FS) selection scheme conducted in two European flint F(2) maize (Zea mays L.) populations was re-evaluated. Our objectives were to (1) determine the selection response for per se and testcross performance in both populations and (2) separate genetic effects due to selection from those due to random genetic drift. Modified recurrent FS selection was conducted at three locations using an effective population size N(e) = 32 and a selection rate of 25% for a selection index, based on grain yield and grain moisture. Recombination was performed according to a pseudo-factorial mating scheme. Selection response was assessed using a population diallel including the source population and advanced selection cycles, as well as testcrosses with unrelated inbred line testers and the parental F(1) generation. Selection response per cycle was significant for grain yield and grain moisture in both populations. Effects of random genetic drift caused only a small reduction in the selection response. No significant selection response was observed for testcrosses, suggesting that for heterotic traits, such as grain yield, a high frequency of favorable alleles in the elite tester masked the effects of genes segregating in the populations. We conclude that our modified recurrent FS selection is an alternative to other commonly applied intrapopulation recurrent selection schemes, and some of its features may also be useful for increasing the efficiency of interpopulation recurrent selection programs.

  1. Safety assessment, detection and traceability, and societal aspects of genetically modified foods. European Network on Safety Assessment of Genetically Modified Food Crops (ENTRANSFOOD). Concluding remarks.

    Science.gov (United States)

    Kuiper, H A; König, A; Kleter, G A; Hammes, W P; Knudsen, I

    2004-07-01

    The most important results from the EU-sponsored ENTRANSFOOD Thematic Network project are reviewed, including the design of a detailed step-wise procedure for the risk assessment of foods derived from genetically modified crops based on the latest scientific developments, evaluation of topical risk assessment issues, and the formulation of proposals for improved risk management and public involvement in the risk analysis process. Copyright 2004 Elsevier Ltd.

  2. Inferring local adaptation from QST–FST comparisons: neutral genetic and quantitative trait variation in European populations of great snipe

    NARCIS (Netherlands)

    Saether, S.A.; Fiske, P.; Kålås, J.A.; Kuresoo, A.; Luigujõe, L.; Piertney, S.; Sahlman, T.; Höglund, J.

    2007-01-01

    We applied a phenotypic QST (PST) vs. FST approach to study spatial variation in selection among great snipe (Gallinago media) populations in two regions of northern Europe. Morphological divergence between regions was high despite low differentiation in selectively neutral genetic markers, whereas

  3. Genetic and phenotypic variation in central and northern European populations of Aedes (Aedimorphus) vexans (Meigen, 1830) (Diptera, Culicidae).

    Science.gov (United States)

    Francuski, Ljubinka; Milankov, Vesna; Ludoški, Jasmina; Krtinić, Bosiljka; Lundström, Jan O; Kemenesi, Gábor; Ferenc, Jakab

    2016-06-01

    The floodwater mosquito Aedes vexans can be a massive nuisance in the flood plain areas of mainland Europe, and is the vector of Tahyna virus and a potential vector of Dirofilaria immitis. This epidemiologically important species forms three subspecies worldwide, of which Aedes vexans arabiensis has a wide distribution in Europe and Africa. We quantified the genetic and phenotypic variation in Ae. vexans arabiensis in populations from Sweden (northern Europe), Hungary, and Serbia (central Europe). A landscape genetics approach (FST , STRUCTURE, BAPS, GENELAND) revealed significant differentiation between northern and southern populations. Similar to genetic data, wing geometric morphometrics revealed two different clusters, one made by Swedish populations, while another included Hungarian and Serbian populations. Moreover, integrated genetic and morphometric data from the spatial analysis suggested groupings of populations into three clusters, one of which was from Swedish and Hungarian populations. Data on spatial analysis regarding an intermediate status of the Hungarian population was supported by observed Isolation-by-Distance patterns. Furthermore, a low proportion of interpopulation vs intrapopulation variance revealed by AMOVA and low-to-moderate FST values on a broader geographical scale indicate a continuous between-population exchange of individuals, including considerable gene flow on the regional scale, are likely to be responsible for the maintenance of the observed population similarity in Aе. vexans. We discussed data considering population structure in the light of vector control strategies of the mosquito from public health importance. © 2016 The Society for Vector Ecology.

  4. A framework for a European network for a systematic environmental impact assessment of genetically modified organisms (GMO).

    NARCIS (Netherlands)

    Graef, F.; Römbke, J.; Binimelis, R.; Myhr, A.I.; Hilbeck, A.; Breckling, B.; Dalgaard, T.; Stachow, U.; Catacora-Vargas, G.; Bohn, T.; Quist, D.; Darvas, B.; Dudel, G.; Oehen, B.; Meyer, H.; Henle, K.; Wynne, B.; Metzger, M.J.; Knäbe, S.; Settele, J.; Székács, A.; Wurbs, A.; Bernard, J.P.; Murphy-Bokern, D.; Buiatti, M.; Giovannetti, M.; Debeljak, M.; Andersen, E.; Paetz, A.; Dzeroski, S.; Tappeser, B.; van Gestel, C.A.M.; Wosniok, W.; Séralini, G.-E.; Aslaksen, I.; Pesch, R.; Maly, S.; Werner, A.

    2012-01-01

    The assessment of the impacts of growing genetically modified (GM) crops remains a major political and scientific challenge in Europe. Concerns have been raised by the evidence of adverse and unexpected environmental effects and differing opinions on the outcomes of environmental risk assessments

  5. Genetic differentiation between introduced Central European sika and source populations in Japan: effects of isolation and demographic events

    Czech Academy of Sciences Publication Activity Database

    Krojerová-Prokešová, Jarmila; Barančeková, Miroslava; Kawata, Y.; Oshida, T.; Igota, H.; Koubek, Petr

    2017-01-01

    Roč. 19, č. 7 (2017), s. 2125-2141 ISSN 1387-3547 R&D Projects: GA ČR GA524/09/1569 Institutional support: RVO:68081766 Keywords : Bottleneck * Founder effect * Genetic diversity * Invasion * Microsatellite loci Subject RIV: EG - Zoology Impact factor: 2.473, year: 2016

  6. Mathematical Footprints Discovering Mathematics Everywhere

    CERN Document Server

    Pappas, Theoni

    1999-01-01

    MATHEMATICAL FOOTPRINTS takes a creative look at the role mathematics has played since prehistoric times, and will play in the future, and uncovers mathematics where you least expect to find it from its many uses in medicine, the sciences, and its appearance in art to its patterns in nature and its central role in the development of computers. Pappas presents mathematical ideas in a readable non-threatening manner. MATHEMATICAL FOOTPRINTS is another gem by the creator of THE MATHEMATICS CALENDAR and author of THE JOY OF MATHEMATICS. "Pappas's books have been gold mines of mathematical ent

  7. Genetic consequences of population decline in the European otter (Lutra lutra): an assessment of microsatellite DNA variation in Danish otters from 1883 to 1993

    DEFF Research Database (Denmark)

    Pertoldi, C; Hansen, MM; Loeschcke, V

    2001-01-01

    The European otter (Lutra lutra) was common in Denmark until the 1960s, but its present distribution encompasses only a minor part of the country. The aim of this study was to assess whether the recent population decline has resulted in loss of genetic variability and to gain further insight...... into the dynamics of the population decline. This was done by analysing microsatellite DNA variation in contemporary and historical samples, the latter encompassing DNA samples extracted from museum specimens covering a time-span from the 1880s to the 1960s. Tests for differences in expected heterozygosity...... and the numbers of alleles in contemporary versus historical samples and a test for detecting population bottlenecks provided few indications of a recent bottleneck and loss of variability. However, a procedure for detecting population expansions and declines, based on the genealogical history of microsatellite...

  8. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  9. Smoking and Genetic Risk Variation across Populations of European, Asian, and African-American Ancestry - A Meta-analysis of Chromosome 15q25

    Science.gov (United States)

    Chen, Li-Shiun; Saccone, Nancy L.; Culverhouse, Robert C.; Bracci, Paige M.; Chen, Chien-Hsiun; Dueker, Nicole; Han, Younghun; Huang, Hongyan; Jin, Guangfu; Kohno, Takashi; Ma, Jennie Z.; Przybeck, Thomas R.; Sanders, Alan R.; Smith, Jennifer A.; Sung, Yun Ju; Wenzlaff, Angie S.; Wu, Chen; Yoon, Dankyu; Chen, Ying-Ting; Cheng, Yu-Ching; Cho, Yoon Shin; David, Sean P.; Duan, Jubao; Eaton, Charles B.; Furberg, Helena; Goate, Alison M.; Gu, Dongfeng; Hansen, Helen M.; Hartz, Sarah; Hu, Zhibin; Kim, Young Jin; Kittner, Steven J.; Levinson, Douglas F.; Mosley, Thomas H.; Payne, Thomas J.; Rao, DC; Rice, John P.; Rice, Treva K.; Schwantes-An, Tae-Hwi; Shete, Sanjay S.; Shi, Jianxin; Spitz, Margaret R.; Sun, Yan V.; Tsai, Fuu-Jen; Wang, Jen C.; Wrensch, Margaret R.; Xian, Hong; Gejman, Pablo V.; He, Jiang; Hunt, Steven C.; Kardia, Sharon L.; Li, Ming D.; Lin, Dongxin; Mitchell, Braxton D.; Park, Taesung; Schwartz, Ann G.; Shen, Hongbing; Wiencke, John K.; Wu, Jer-Yuarn; Yokota, Jun; Amos, Christopher I.; Bierut, Laura J.

    2012-01-01

    Recent meta-analyses of European ancestry subjects show strong evidence for association between smoking quantity and multiple genetic variants on chromosome 15q25. This meta-analysis extends the examination of association between distinct genes in the CHRNA5-CHRNA3-CHRNB4 region and smoking quantity to Asian and African American populations to confirm and refine specific reported associations. Association results for a dichotomized cigarettes smoked per day (CPD) phenotype in 27 datasets (European ancestry (N=14,786), Asian (N=6,889), and African American (N=10,912) for a total of 32,587 smokers) were meta-analyzed by population and results were compared across all three populations. We demonstrate association between smoking quantity and markers in the chromosome 15q25 region across all three populations, and narrow the region of association. Of the variants tested, only rs16969968 is associated with smoking (p < 0.01) in each of these three populations (OR=1.33, 95%C.I.=1.25–1.42, p=1.1×10−17 in meta-analysis across all population samples). Additional variants displayed a consistent signal in both European ancestry and Asian datasets, but not in African Americans. The observed consistent association of rs16969968 with heavy smoking across multiple populations, combined with its known biological significance, suggests rs16969968 is most likely a functional variant that alters risk for heavy smoking. We interpret additional association results that differ across populations as providing evidence for additional functional variants, but we are unable to further localize the source of this association. Using the cross-population study paradigm provides valuable insights to narrow regions of interest and inform future biological experiments. PMID:22539395

  10. Smoking and genetic risk variation across populations of European, Asian, and African American ancestry--a meta-analysis of chromosome 15q25.

    Science.gov (United States)

    Chen, Li-Shiun; Saccone, Nancy L; Culverhouse, Robert C; Bracci, Paige M; Chen, Chien-Hsiun; Dueker, Nicole; Han, Younghun; Huang, Hongyan; Jin, Guangfu; Kohno, Takashi; Ma, Jennie Z; Przybeck, Thomas R; Sanders, Alan R; Smith, Jennifer A; Sung, Yun Ju; Wenzlaff, Angie S; Wu, Chen; Yoon, Dankyu; Chen, Ying-Ting; Cheng, Yu-Ching; Cho, Yoon Shin; David, Sean P; Duan, Jubao; Eaton, Charles B; Furberg, Helena; Goate, Alison M; Gu, Dongfeng; Hansen, Helen M; Hartz, Sarah; Hu, Zhibin; Kim, Young Jin; Kittner, Steven J; Levinson, Douglas F; Mosley, Thomas H; Payne, Thomas J; Rao, D C; Rice, John P; Rice, Treva K; Schwantes-An, Tae-Hwi; Shete, Sanjay S; Shi, Jianxin; Spitz, Margaret R; Sun, Yan V; Tsai, Fuu-Jen; Wang, Jen C; Wrensch, Margaret R; Xian, Hong; Gejman, Pablo V; He, Jiang; Hunt, Steven C; Kardia, Sharon L; Li, Ming D; Lin, Dongxin; Mitchell, Braxton D; Park, Taesung; Schwartz, Ann G; Shen, Hongbing; Wiencke, John K; Wu, Jer-Yuarn; Yokota, Jun; Amos, Christopher I; Bierut, Laura J

    2012-05-01

    Recent meta-analyses of European ancestry subjects show strong evidence for association between smoking quantity and multiple genetic variants on chromosome 15q25. This meta-analysis extends the examination of association between distinct genes in the CHRNA5-CHRNA3-CHRNB4 region and smoking quantity to Asian and African American populations to confirm and refine specific reported associations. Association results for a dichotomized cigarettes smoked per day phenotype in 27 datasets (European ancestry (N = 14,786), Asian (N = 6,889), and African American (N = 10,912) for a total of 32,587 smokers) were meta-analyzed by population and results were compared across all three populations. We demonstrate association between smoking quantity and markers in the chromosome 15q25 region across all three populations, and narrow the region of association. Of the variants tested, only rs16969968 is associated with smoking (P < 0.01) in each of these three populations (odds ratio [OR] = 1.33, 95% CI = 1.25-1.42, P = 1.1 × 10(-17) in meta-analysis across all population samples). Additional variants displayed a consistent signal in both European ancestry and Asian datasets, but not in African Americans. The observed consistent association of rs16969968 with heavy smoking across multiple populations, combined with its known biological significance, suggests rs16969968 is most likely a functional variant that alters risk for heavy smoking. We interpret additional association results that differ across populations as providing evidence for additional functional variants, but we are unable to further localize the source of this association. Using the cross-population study paradigm provides valuable insights to narrow regions of interest and inform future biological experiments. © 2012 Wiley Periodicals, Inc.

  11. Assessment of spatial discordance of primary and effective seed dispersal of European beech (Fagus sylvatica L.) by ecological and genetic methods.

    Science.gov (United States)

    Millerón, M; López de Heredia, U; Lorenzo, Z; Alonso, J; Dounavi, A; Gil, L; Nanos, N

    2013-03-01

    Spatial discordance between primary and effective dispersal in plant populations indicates that postdispersal processes erase the seed rain signal in recruitment patterns. Five different models were used to test the spatial concordance of the primary and effective dispersal patterns in a European beech (Fagus sylvatica) population from central Spain. An ecological method was based on classical inverse modelling (SSS), using the number of seed/seedlings as input data. Genetic models were based on direct kernel fitting of mother-to-offspring distances estimated by a parentage analysis or were spatially explicit models based on the genotype frequencies of offspring (competing sources model and Moran-Clark's Model). A fully integrated mixed model was based on inverse modelling, but used the number of genotypes as input data (gene shadow model). The potential sources of error and limitations of each seed dispersal estimation method are discussed. The mean dispersal distances for seeds and saplings estimated with these five methods were higher than those obtained by previous estimations for European beech forests. All the methods show strong discordance between primary and effective dispersal kernel parameters, and for dispersal directionality. While seed rain was released mostly under the canopy, saplings were established far from mother trees. This discordant pattern may be the result of the action of secondary dispersal by animals or density-dependent effects; that is, the Janzen-Connell effect. © 2013 Blackwell Publishing Ltd.

  12. Effect of Inspection Policies and Residual Value of Collected Used Products: A Mathematical Model and Genetic Algorithm for a Closed-Loop Green Manufacturing System

    Directory of Open Access Journals (Sweden)

    Byung Duk Song

    2017-09-01

    Full Text Available In the green manufacturing system that pursues the reuse of used products, the residual value of collected used products (CUP hugely affects a variety of managerial decisions to construct profitable and environmental remanufacturing plans. This paper deals with a closed-loop green manufacturing system for companies which perform both manufacturing with raw materials and remanufacturing with collected used products (CUP. The amount of CUP is assumed as a function of buy-back cost while the quality level of CUP, which means the residual value, follows a known distribution. In addition, the remanufacturing cost can differ according to the quality of the CUP. Moreover, nowadays companies are subject to existing environment-related laws such as Extended Producer Responsibility (EPR. Therefore, a company should collect more used products than its obligatory take-back quota or face fines from the government for not meeting its quota. Through the development of mathematical models, two kinds of inspection policies are examined to validate the efficiency of two different operation processes. To find a managerial solution, a genetic algorithm is proposed and tested with numerical examples.

  13. Genetic Alterations in Prostate Cancers among African American Men and Comparisons with Cancers from European and Asian Patients

    Science.gov (United States)

    2016-10-01

    RB1, respectively. To our surprise , no subjects in this subset of African American patients harbored the deletion between the 3’ of TMPRSS2 and 3...Aim 3: We plan to develop a genetic test to translate these research findings to clinics. o What was accomplished under these goals? Aim 1: A...patients affected, respectively. To our surprise , none of these African American patients harbor the deletion between the 3’ of TMPRSS2 and ERG (T_E in

  14. Species identification and genetic differentiation of European cavity-nesting wasps (Hymenoptera: Vespidae, Pompilidae, Crabronidae) inferred from DNA barcoding data.

    Science.gov (United States)

    Turčinavičienė, Jurga; Radzevičiūtė, Rita; Budrienė, Anna; Budrys, Eduardas

    2016-01-01

    Solitary trap-nesting wasps are prospective bioindicators of anthropogenic pressures on natural ecosystems and one of the surrogate taxa for biodiversity assessments. The implementation of these studies is taxonomy-based and relies on accurate identification of species. The identification of larval stages of cavity-nesting Hymenoptera, collected using trap-nests, is complicated or impossible before the post-hibernation hatching of adults. DNA barcoding may allow the identification of the trap-nesting Hymenoptera species immediately after collection of the trap-nests, using larvae or dead specimens as sources of DNA. Using the standard barcoding sequence, we identified 33 wasp species from the families Vespidae, Pompilidae and Crabronidae, inhabiting trap-nests in Europe. Within-species and between-species genetic distances were estimated to evaluate the differences of intraspecific and interspecific genetic diversity. Genetic distances between related species indicated an obvious "barcoding gap". Neighbour-joining analysis revealed that groups corresponding to taxa of genus level are cohesive as well. COI barcode approach was confirmed as a valuable tool for taxonomy-based biodiversity studies of the trap-nesting Hymenoptera.

  15. Genetic divergence and evolutionary times: calibrating a protein clock for South-European Stenasellus species (Crustacea, Isopoda

    Directory of Open Access Journals (Sweden)

    Valerio Ketmaier

    1997-01-01

    Full Text Available We studied genetic divergence in a group of exclusively stygobiont isopods of the family Stenasellidae. In particular, we assessed evolutionary relationships among several populations of Stenasellus racovitzai and Stenasellus virei. To place this study in a phylogenetic context. we used another species of Stenasellus, S. assorgiai, as an outgroup. S. racovitzai occurs in Corsica, Sardinia and in the fossil islands of the Tuscan Archipelago, while S. virei is a polytypic species widely distributed in the central France and Pyrenean area. This vicariant distribution is believed to be the result of the disjunction of the Sardinia-Corsica microplate from the Pyrenean region and its subsequent rotation. Since geological data provide time estimates for these events, we can use the genetic distance data to calibrate a molecular clock for this group of stygobiont isopods. The calibration of the molecular clock reveals a roughly linear relationship (r = 0.753 between the genetic distances and absolute divergence times, with a mean divergence rate (19.269 Myr/DNei, different from those previously reported in the literature and provides an opportunity to shed some light on the evolutionary scenarios of other Stenasellus species.

  16. Mathematics in Action

    DEFF Research Database (Denmark)

    December 2004-November 2007 Denmark, Hungary, Lithuania, the Netherlands, Norway, Slovenia and Spain have cooperated in the project Mathematics in Action (MiA). The MiA project is supported by the Grundtvig action in the Socrates program of the European Commission. The aim of the project is to su......December 2004-November 2007 Denmark, Hungary, Lithuania, the Netherlands, Norway, Slovenia and Spain have cooperated in the project Mathematics in Action (MiA). The MiA project is supported by the Grundtvig action in the Socrates program of the European Commission. The aim of the project...... is to support quality of learning and teaching of mathematics in adult education in the EU countries and to support participation and success rates of adult learners. The target groups are teachers in adult learning institutions and teacher trainers. As a result of the MiA project this handbook presents...... examples of good practices and theoretical thoughts about doing and learning mathematics in actual real life situations. The first chapter gives an overview. The second chapter concerns important papers from the European Commission on key competences and how they set up challenges for teachers in adult...

  17. Experimental analysis and mathematical prediction of Cd(II) removal by biosorption using support vector machines and genetic algorithms.

    Science.gov (United States)

    Hlihor, Raluca Maria; Diaconu, Mariana; Leon, Florin; Curteanu, Silvia; Tavares, Teresa; Gavrilescu, Maria

    2015-05-25

    We investigated the bioremoval of Cd(II) in batch mode, using dead and living biomass of Trichoderma viride. Kinetic studies revealed three distinct stages of the biosorption process. The pseudo-second order model and the Langmuir model described well the kinetics and equilibrium of the biosorption process, with a determination coefficient, R(2)>0.99. The value of the mean free energy of adsorption, E, is less than 16 kJ/mol at 25 °C, suggesting that, at low temperature, the dominant process involved in Cd(II) biosorption by dead T. viride is the chemical ion-exchange. With the temperature increasing to 40-50 °C, E values are above 16 kJ/mol, showing that the particle diffusion mechanism could play an important role in Cd(II) biosorption. The studies on T. viride growth in Cd(II) solutions and its bioaccumulation performance showed that the living biomass was able to bioaccumulate 100% Cd(II) from a 50 mg/L solution at pH 6.0. The influence of pH, biomass dosage, metal concentration, contact time and temperature on the bioremoval efficiency was evaluated to further assess the biosorption capability of the dead biosorbent. These complex influences were correlated by means of a modeling procedure consisting in data driven approach in which the principles of artificial intelligence were applied with the help of support vector machines (SVM), combined with genetic algorithms (GA). According to our data, the optimal working conditions for the removal of 98.91% Cd(II) by T. viride were found for an aqueous solution containing 26.11 mg/L Cd(II) as follows: pH 6.0, contact time of 3833 min, 8 g/L biosorbent, temperature 46.5 °C. The complete characterization of bioremoval parameters indicates that T. viride is an excellent material to treat wastewater containing low concentrations of metal. Copyright © 2014 Elsevier B.V. All rights reserved.

  18. Within- and among-population impact of genetic erosion on adult fitness-related traits in the European tree frog Hyla arborea.

    Science.gov (United States)

    Luquet, E; Léna, J-P; David, P; Prunier, J; Joly, P; Lengagne, T; Perrin, N; Plénet, S

    2013-04-01

    Assessing in wild populations how fitness is impacted by inbreeding and genetic drift is a major goal for conservation biology. An approach to measure the detrimental effects of inbreeding on fitness is to estimate correlations between molecular variation and phenotypic performances within and among populations. Our study investigated the effect of individual multilocus heterozygosity on body size, body condition and reproductive investment of males (that is, chorus attendance) and females (that is, clutch mass and egg size) in both small fragmented and large non-fragmented populations of European tree frog (Hyla arborea). Because adult size and/or condition and reproductive investment are usually related, genetic erosion may have detrimental effects directly on reproductive investment, and also on individual body size and condition that in turn may affect reproductive investment. We confirmed that the reproductive investment was highly size-dependent for both sexes. Larger females invested more in offspring production, and larger males attended the chorus in the pond more often. Our results did not provide evidence for a decline in body size, condition and reproductive effort with decreased multilocus heterozygosity both within and among populations. We showed that the lack of heterozygosity-fitness correlations within populations probably resulted from low inbreeding levels (inferior to ca. 20% full-sib mating rate), even in the small fragmented populations. The detrimental effects of fixation load were either low in adults or hidden by environmental variation among populations. These findings will be useful to design specific management actions to improve population persistence.

  19. The X chromosome Alu insertions as a tool for human population genetics: data from European and African human groups.

    Science.gov (United States)

    Athanasiadis, Georgios; Esteban, Esther; Via, Marc; Dugoujon, Jean-Michel; Moschonas, Nicholas; Chaabani, Hassen; Moral, Pedro

    2007-05-01

    Alu elements are the most abundant mobile elements in the human genome (approximately 1,100,000 copies). Polymorphic Alu elements have been proved to be useful in studies of human origins and relationships owing to two important advantages: identity by descent and absence of the Alu element known to be the ancestral state. Alu variation in the X chromosome has been described previously in human populations but, as far as we know, these elements have not been used in population relationship studies. Here, we describe the allele frequencies of 13 'young' Alu elements of the X chromosome (Ya5DP62, Ya5DP57, Yb8DP49, Ya5a2DP1, Yb8DP2, Ya5DP3, Ya5NBC37, Yd3JX437, Ya5DP77, Ya5NBC491, Yb8NBC578, Ya5DP4 and Ya5DP13) in six human populations from sub-Saharan Africa (the Ivory Coast), North Africa (Moroccan High Atlas, Siwa oasis in Egypt, Tunisia), Greece (Crete Island) and Spain (Basque Country). Eight out of 13 Alu elements have shown remarkably high gene diversity values in all groups (average heterozygosities: 0.342 in the Ivory Coast, 0.250 in North Africa, 0.209 in Europe). Genetic relationships agree with a geographical pattern of differentiation among populations, with some peculiar features observed in North Africans. Crete Island and the Basque Country show the lowest genetic distance (0.0163) meanwhile Tunisia, in spite of its geographical location, lies far from the other two North African samples. The results of our work demonstrate that X chromosome Alu elements comprise a reliable set of genetic markers useful to describe human population relationships for fine-scale geographical studies.

  20. Novel genetic loci associated with long-term deterioration in blood lipid concentrations and coronary artery disease in European adults

    DEFF Research Database (Denmark)

    Varga, Tibor V; Kurbasic, Azra; Aine, Mattias

    2017-01-01

    Background: Cross-sectional genome-wide association studies have identified hundreds of loci associated with blood lipids and related cardiovascular traits, but few genetic association studies have focused on long-term changes in blood lipids. Methods: Participants from the GLACIER Study (Nmax...... prospective cohort studies (MDC, PIVUS, ULSAM, MRC Ely; Nmax = 8263 participants) were used for replication. We conducted an in silico look-up for association with coronary artery disease (CAD) in the Coronary ARtery DIsease Genome-wide Replication and Meta-analysis (CARDIoGRAMplusC4D) Consortium (N ∼ 190 000...

  1. A Unifying Mathematical Framework for Genetic Robustness, Environmental Robustness, Network Robustness and their Trade-off on Phenotype Robustness in Biological Networks Part I: Gene Regulatory Networks in Systems and Evolutionary Biology.

    Science.gov (United States)

    Chen, Bor-Sen; Lin, Ying-Po

    2013-01-01

    Robust stabilization and environmental disturbance attenuation are ubiquitous systematic properties observed in biological systems at different levels. The underlying principles for robust stabilization and environmental disturbance attenuation are universal to both complex biological systems and sophisticated engineering systems. In many biological networks, network robustness should be enough to confer intrinsic robustness in order to tolerate intrinsic parameter fluctuations, genetic robustness for buffering genetic variations, and environmental robustness for resisting environmental disturbances. With this, the phenotypic stability of biological network can be maintained, thus guaranteeing phenotype robustness. This paper presents a survey on biological systems and then develops a unifying mathematical framework for investigating the principles of both robust stabilization and environmental disturbance attenuation in systems and evolutionary biology. Further, from the unifying mathematical framework, it was discovered that the phenotype robustness criterion for biological networks at different levels relies upon intrinsic robustness + genetic robustness + environmental robustness ≦ network robustness. When this is true, the phenotype robustness can be maintained in spite of intrinsic parameter fluctuations, genetic variations, and environmental disturbances. Therefore, the trade-offs between intrinsic robustness, genetic robustness, environmental robustness, and network robustness in systems and evolutionary biology can also be investigated through their corresponding phenotype robustness criterion from the systematic point of view.

  2. Genetic Population Structure and Demographic History of the Widespread Common Shipworm Teredo navalis Linnaeus 1758 (Mollusca: Bivalvia: Teredinidae in European Waters Inferred from Mitochondrial COI Sequence Data

    Directory of Open Access Journals (Sweden)

    Ronny Weigelt

    2017-06-01

    Full Text Available The first documented scientific reports of the common marine shipworm Teredo navalis (Bivalvia for Central European waters date back to the time between 1700 and 1730 in the Netherlands. During the following centuries there were several irregular mass occurrences reported for both the North Sea and the Baltic Sea. These events were accompanied by massive destruction of wooden ships and coastal protection structures. In this study, the first population analysis of T. navalis is presented with the aim to detect the genetic population structure in the waters of Central Europe. The mtDNA COI (cytochrome c oxidase subunit I locus was found as suitable molecular marker and hence a 675 bp gene fragment was studied. A total of 352 T. navalis specimens from 13 different sampling sites distributed across Central Europe were examined. Subsequently, various population genetic indices including FST values and an AMOVA analysis were applied for the description of the population structure. To visualize the distribution of haplotypes at the different sampling sites two median-joining networks were calculated. In addition, the past demographic structure of the T. navalis population was analyzed, among others by calculating Tajima's D, Fu's F and the mismatch distribution. Finally, all computations of the population genetic indices could not reveal differentiated populations or any kind of distinct population structure in T. navalis. The network analyses revealed “star-like” patterns without differentiated substructures or demes. Therefore, it can be assumed that a sudden expansion of this species took place without any indications of neither a bottleneck nor a founder effect for the study area. The results of this study support the concept of a regional panmictic population in the waters of Central Europe with unhindered migration of individuals (e.g., via pelagic larvae between the various sampling sites as reflected by a high gene flow.

  3. Association study of methylenetetrahydrofolate reductase genetic polymorphism 677C>T with schizophrenia in hospitalized patients in population of European Russia.

    Science.gov (United States)

    Zhilyaeva, T V; Sergeeva, A V; Blagonravova, A S; Kasimova, L N; Kuznetsov, K V; Golovanova, V I; Shebolkova, T B; Korshunova, E A

    2017-11-29

    The purpose of the research was to investigate the association of methylenetetrahydrofolate reductase (hereinafter MTHFR) genetic polymorphism 677C>T with schizophrenia in the Russian population in comparison with the control group of healthy blood donors. Also some characteristics of schizophrenia were examined in patients with/without defective T-allele of MTHFR677C>T polymorphism. 500 patients with schizophrenia and 499 blood donors were examined for T-allele carriage of polymorphism MTHFR677C>T by PCR method. 150 archival medical records were studied (in the first patients included in the study). The carriage of T-allele of genetic polymorphism MTHFR677C>T was significantly more common in patients than in healthy donors: 255/500 versus 219/499 (p=0,0287, χ2=4,79; OR=1,33, 95%CI [1037; 1707]). The number of patients with chronic type of schizophrenia onset was significantly more among T-allele carriers (n=77) than among normal CC-genotype carriers (n=73): р=0.038. The number of "incapacitated" persons in the group of patients with defective T-allele (n=77) was significantly higher than in patients with normal genotype (n=73, p=0.0439; OR=2.878, 95%CI=1.111-7.456). The results suggest that T-allele of genetic polymorphism MTHFR677C>T in the population of European Russia may increase the risk of developing schizophrenia and its unfavorable prognosis, which requires further investigation. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Mathematical bridges

    CERN Document Server

    Andreescu, Titu; Tetiva, Marian

    2017-01-01

    Building bridges between classical results and contemporary nonstandard problems, Mathematical Bridges embraces important topics in analysis and algebra from a problem-solving perspective. Blending old and new techniques, tactics and strategies used in solving challenging mathematical problems, readers will discover numerous genuine mathematical gems throughout that will heighten their appreciation of the inherent beauty of mathematics. Most of the problems are original to the authors and are intertwined in a well-motivated exposition driven by representative examples. The book is structured to assist the reader in formulating and proving conjectures, as well as devising solutions to important mathematical problems by making connections between various concepts and ideas from different areas of mathematics. Instructors and educators teaching problem-solving courses or organizing mathematics clubs, as well as motivated mathematics students from high school juniors to college seniors, will find Mathematical Bri...

  5. A framework for a european network for a systematic environmental impact assessment of genetically modified organisms (GMO)

    DEFF Research Database (Denmark)

    Graef, Frieder; Römbke, Jörg; Binimelis, Rosa

    2012-01-01

    The assessment of the impacts of growing genetically modified (GM) crops remains a major political and scientific challenge in Europe. Concerns have been raised by the evidence of adverse and unexpected environmental effects and differing opinions on the outcomes of environmental risk assessments...... (ERA). The current regulatory system is hampered by insufficiently developed methods for GM crop safety testing and introduction studies. Improvement to the regulatory system needs to address the lack of well designed GM crop monitoring frameworks, professional and financial conflicts of interest...... Network for systematic GMO impact assessment (ENSyGMO) with the aim directly to enhance ERA and post-market environmental monitoring (PMEM) of GM crops, to harmonize and ultimately secure the long-term socio-political impact of the ERA process and the PMEM in the EU. These goals would be achieved...

  6. Mathematic Terminology.

    Science.gov (United States)

    Hanh, Vu Duc, Ed.

    This document gives a listing of mathematical terminology in both the English and Vietnamese languages. Vocabulary used in algebra and geometry is included along with a translation of mathematical symbols. (DT)

  7. Mathematics disorder

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001534.htm Mathematics disorder To use the sharing features on this page, please enable JavaScript. Mathematics disorder is a condition in which a child's ...

  8. Genetic diversity for RFLPs in European maize inbreds : II. Relation to performance of hybrids within versus between heterotic groups for forage traits.

    Science.gov (United States)

    Melchinger, A E; Boppenmaier, J; Dhillon, B S; Pollmer, W G; Herrmann, R G

    1992-08-01

    Restriction fragment length polymorphisms (RFLPs) have been proposed for the prediction of the yield potential of hybrids and the assignment of inbreds to heterotic groups. Such use was investigated in 66 diallel crosses among 6 flint and 6 dent inbreds from European maize (Zea mays L.) germ plasm. Inbreds and hybrids were evaluated for seven forage traits in four environments in the Federal Republic of Germany. Midparent heterosis (MPH) and specific combining ability (SCA) were calculated. Genetic distances (GD) between lines were calculated from RFLP data of 194 clone-enzyme combinations. GDs were greater for flint x dent than for flint x flint and dent x dent line combinations. Cluster analysis based on GDs showed separate groupings of flint and dent lines and agreed with pedigree information, except for 1 inbred. GDs of all line combinations in the diallel were partitioned into general (GGD) and specific (SGD) genetic distances; GGD explained approximately 20% of the variation among GD values. For the 62 diallel crosses (excluding 4 crosses of highly related lines), correlations of GD with F1 performance, MPH, and SCA for dry matter yield (DMY) of stover, ear, and forage were positive but mostly of moderate size (0.09≤r≤0.60) compared with the higher correlations (0.39≤r≤0.77) of SGD with these traits. When separate calculations were performed for various subsets, correlations of GD and SGD with DMY traits were generally small (r<0.47) for the 36 flint x dent crosses, significantly positive (r<0.53) for the 14 flint x flint crosses, and inconclusive for the 12 dent x dent crosses because of the lack of significant genotypic variation. Results indicated that RFLPs can be used for assigning inbreds to heterotic groups. RFLP-based genetic distance measures seem to be useful for predicting forage yield of (1) crosses between lines from the same germ plasm group or (2) crosses including line combinations from the same as well as different heterotic groups

  9. Mathematics anxiety and mathematics achievement

    Science.gov (United States)

    Sherman, Brian F.; Wither (Post.), David P.

    2003-09-01

    This paper is a distillation of the major result from the 1998 Ph.D. thesis of the late David Wither. It details a longitudinal study over five years of the relationship between mathematics anxiety and mathematics achievement. It starts from the already well documented negative correlation between the two, and seeks to establish one of the three hypotheses—that mathematics anxiety causes an impairment of mathematics achievement; that lack of mathematics achievement causes mathematics anxiety; or that there is a third underlying cause of the two.

  10. A history of mathematics

    CERN Document Server

    Boyer, Carl B

    1989-01-01

    "Boyer and Merzbach distill thousands of years of mathematics into this fascinating chronicle. From the Greeks to Godel, the mathematics is brilliant; the cast of characters is distinguished; the ebb and flow of ideas is everywhere evident. And, while tracing the development of European mathematics, the authors do not overlook the contributions of Chinese, Indian, and Arabic civilizations. Without doubt, this is--and will long remain--a classic one-volume history of mathematics and mathematicians who create it." --William Dunham Author, Journey Through Genius, The Great Theorems of Mathematics "When we read a book like A History of Mathematics, we get the picture of a mounting structure, ever taller and broader and more beautiful and magnificent--and with a foundation, moreover, that is as untainted and as functional now as it was when Thales worked out the first geometrical theorems nearly 26 centuries ago." --From the Foreword by Isaac Asimov "One of the most useful and comprehensive general introductions t...

  11. Rainforest Mathematics

    Science.gov (United States)

    Kilpatrick, Jeremy

    2014-01-01

    This paper addresses the contested way that ethnomathematics has sometimes been received by mathematicians and others and what that disagreement might suggest about issues in mathematics education; namely, (a) the relation of ethnomathematics to academic mathematics; (b) recent efforts to reform secondary school mathematics so that it prepares…

  12. Mathematics ... Applications

    OpenAIRE

    Christiansen, Snorre H.

    2015-01-01

    We consider a definition of mathematics as the art of thinking in terms of formalized systems, and the science of relations, structures and algorithms. We also touch upon the relation of mathematics to other sciences, in particular through modelling and scientific computing. We discuss mathematics as a martial art and a key to paradigm changes.

  13. Determination of genetic toxicity and potential carcinogenicity in vitro--challenges post the Seventh Amendment to the European Cosmetics Directive.

    Science.gov (United States)

    Tweats, D J; Scott, A D; Westmoreland, C; Carmichael, P L

    2007-01-01

    Genetic toxicology and its role in the detection of carcinogens is currently undergoing a period of reappraisal. There is an increasing interest in developing alternatives to animal testing and the three R's of reduction, refinement and replacement are the basis for EU and national animal protection laws the Seventh Amendment to the EU Cosmetics Directive will ban the marketing of cosmetic/personal care products that contain ingredients that have been tested in animal models. Thus in vivo tests such as the bone marrow micronucleus test, which has a key role in current testing strategies for genotoxicity, will not be available for this class of products. The attrition rate for new, valuable and safe chemicals tested in an in vitro-only testing battery, using the in vitro tests currently established for genotoxicity screening, will greatly increase once this legislation is in place. In addition there has been an explosion of knowledge concerning the cellular and molecular events leading to carcinogenesis. This knowledge has not yet been fully factored into screening chemicals for properties that are not directly linked to mutation induction. Thus there is a pressing need for new, more accurate approaches to determine genotoxicity and carcinogenicity. However, a considerable challenge is presented for these new approaches to be universally accepted and new tests sufficiently validated by March 2009 when the animal testing and marketing bans associated with the Seventh Amendment are due to come into force. This commentary brings together ideas and approaches from several international workshops and meetings to consider these issues.

  14. Emerging genetic patterns of the European Neolithic: perspectives from a late Neolithic Bell Beaker burial site in Germany.

    Science.gov (United States)

    Lee, Esther J; Makarewicz, Cheryl; Renneberg, Rebecca; Harder, Melanie; Krause-Kyora, Ben; Müller, Stephanie; Ostritz, Sven; Fehren-Schmitz, Lars; Schreiber, Stefan; Müller, Johannes; von Wurmb-Schwark, Nicole; Nebel, Almut

    2012-08-01

    The transition from hunting and gathering to agriculture in Europe is associated with demographic changes that may have shifted the human gene pool of the region as a result of an influx of Neolithic farmers from the Near East. However, the genetic composition of populations after the earliest Neolithic, when a diverse mosaic of societies that had been fully engaged in agriculture for some time appeared in central Europe, is poorly known. At this period during the Late Neolithic (ca. 2,800-2,000 BC), regionally distinctive burial patterns associated with two different cultural groups emerge, Bell Beaker and Corded Ware, and may reflect differences in how these societies were organized. Ancient DNA analyses of human remains from the Late Neolithic Bell Beaker site of Kromsdorf, Germany showed distinct mitochondrial haplotypes for six individuals, which were classified under the haplogroups I1, K1, T1, U2, U5, and W5, and two males were identified as belonging to the Y haplogroup R1b. In contrast to other Late Neolithic societies in Europe emphasizing maintenance of biological relatedness in mortuary contexts, the diversity of maternal haplotypes evident at Kromsdorf suggests that burial practices of Bell Beaker communities operated outside of social norms based on shared maternal lineages. Furthermore, our data, along with those from previous studies, indicate that modern U5-lineages may have received little, if any, contribution from the Mesolithic or Neolithic mitochondrial gene pool. Copyright © 2012 Wiley Periodicals, Inc.

  15. Progress in Industrial Mathematics at ECMI 96

    DEFF Research Database (Denmark)

    Proceedings of the 9th conference of the European Consortium for Mathematics in Industry, ECMI 96, Technincal University of Denmark. The use of mathematical models in industry is steadily growing. There is a continous need in industry for new and efficient mathematical techniques, and university...... mathematicians get inspiration from industrial demands. The European Consortium for Mathematics in Industry aims to create contact between industry and academia, and to promote research in industrial mathematics. This book contains a broad spectrum of mathematics applied to industrial problems. Applied...... mathematics, case studies, and review papers in the following fields are included: Environmental modelling, railway systems, industrial processes, electronics, ships, oil industry, optimization, machine dynamics, fluids in industry. Applied mathematicians and other professionals working in academia...

  16. Potential and limits to unravel the genetic architecture and predict the variation of Fusarium head blight resistance in European winter wheat (Triticum aestivum L.).

    Science.gov (United States)

    Jiang, Y; Zhao, Y; Rodemann, B; Plieske, J; Kollers, S; Korzun, V; Ebmeyer, E; Argillier, O; Hinze, M; Ling, J; Röder, M S; Ganal, M W; Mette, M F; Reif, J C

    2015-03-01

    Genome-wide mapping approaches in diverse populations are powerful tools to unravel the genetic architecture of complex traits. The main goals of our study were to investigate the potential and limits to unravel the genetic architecture and to identify the factors determining the accuracy of prediction of the genotypic variation of Fusarium head blight (FHB) resistance in wheat (Triticum aestivum L.) based on data collected with a diverse panel of 372 European varieties. The wheat lines were phenotyped in multi-location field trials for FHB resistance and genotyped with 782 simple sequence repeat (SSR) markers, and 9k and 90k single-nucleotide polymorphism (SNP) arrays. We applied genome-wide association mapping in combination with fivefold cross-validations and observed surprisingly high accuracies of prediction for marker-assisted selection based on the detected quantitative trait loci (QTLs). Using a random sample of markers not selected for marker-trait associations revealed only a slight decrease in prediction accuracy compared with marker-based selection exploiting the QTL information. The same picture was confirmed in a simulation study, suggesting that relatedness is a main driver of the accuracy of prediction in marker-assisted selection of FHB resistance. When the accuracy of prediction of three genomic selection models was contrasted for the three marker data sets, no significant differences in accuracies among marker platforms and genomic selection models were observed. Marker density impacted the accuracy of prediction only marginally. Consequently, genomic selection of FHB resistance can be implemented most cost-efficiently based on low- to medium-density SNP arrays.

  17. Discrete Mathematics

    DEFF Research Database (Denmark)

    Sørensen, John Aasted

    2011-01-01

    ; construct a finite state machine for a given application. Apply these concepts to new problems. The teaching in Discrete Mathematics is a combination of sessions with lectures and students solving problems, either manually or by using Matlab. Furthermore a selection of projects must be solved and handed......The objectives of Discrete Mathematics (IDISM2) are: The introduction of the mathematics needed for analysis, design and verification of discrete systems, including the application within programming languages for computer systems. Having passed the IDISM2 course, the student will be able...... to accomplish the following: -Understand and apply formal representations in discrete mathematics. -Understand and apply formal representations in problems within discrete mathematics. -Understand methods for solving problems in discrete mathematics. -Apply methods for solving problems in discrete mathematics...

  18. Discrete Mathematics

    DEFF Research Database (Denmark)

    Sørensen, John Aasted

    2011-01-01

    The objectives of Discrete Mathematics (IDISM2) are: The introduction of the mathematics needed for analysis, design and verification of discrete systems, including the application within programming languages for computer systems. Having passed the IDISM2 course, the student will be able...... to accomplish the following: -Understand and apply formal representations in discrete mathematics. -Understand and apply formal representations in problems within discrete mathematics. -Understand methods for solving problems in discrete mathematics. -Apply methods for solving problems in discrete mathematics......; construct a finite state machine for a given application. Apply these concepts to new problems. The teaching in Discrete Mathematics is a combination of sessions with lectures and students solving problems, either manually or by using Matlab. Furthermore a selection of projects must be solved and handed...

  19. Mathematical Modeling and Pure Mathematics

    Science.gov (United States)

    Usiskin, Zalman

    2015-01-01

    Common situations, like planning air travel, can become grist for mathematical modeling and can promote the mathematical ideas of variables, formulas, algebraic expressions, functions, and statistics. The purpose of this article is to illustrate how the mathematical modeling that is present in everyday situations can be naturally embedded in…

  20. Can genetic-based advice help you lose weight? Findings from the Food4Me European randomized controlled trial.

    Science.gov (United States)

    Celis-Morales, Carlos; Marsaux, Cyril Fm; Livingstone, Katherine M; Navas-Carretero, Santiago; San-Cristobal, Rodrigo; Fallaize, Rosalind; Macready, Anna L; O'Donovan, Clare; Woolhead, Clara; Forster, Hannah; Kolossa, Silvia; Daniel, Hannelore; Moschonis, George; Mavrogianni, Christina; Manios, Yannis; Surwillo, Agnieszka; Traczyk, Iwona; Drevon, Christian A; Grimaldi, Keith; Bouwman, Jildau; Gibney, Mike J; Walsh, Marianne C; Gibney, Eileen R; Brennan, Lorraine; Lovegrove, Julie A; Martinez, J Alfredo; Saris, Wim Hm; Mathers, John C

    2017-05-01

    Background: There has been limited evidence about whether genotype-tailored advice provides extra benefits in reducing obesity-related traits compared with the benefits of conventional one-size-fits-all advice.Objective: We determined whether the disclosure of information on fat-mass and obesity-associated (FTO) genotype risk had a greater effect on a reduction of obesity-related traits in risk carriers than in nonrisk carriers across different levels of personalized nutrition.Design: A total of 683 participants (women: 51%; age range: 18-73 y) from the Food4Me randomized controlled trial were included in this analysis. Participants were randomly assigned to 4 intervention arms as follows: level 0, control group; level 1, dietary group; level 2, phenotype group; and level 3, genetic group. FTO (single nucleotide polymorphism rs9939609) was genotyped at baseline in all participants, but only subjects who were randomly assigned to level 3 were informed about their genotypes. Level 3 participants were stratified into risk carriers (AA/AT) and nonrisk carriers (TT) of the FTO gene for analyses. Height, weight, and waist circumference (WC) were self-measured and reported at baseline and months 3 and 6.Results: Changes in adiposity markers were greater in participants who were informed that they carried the FTO risk allele (level 3 AT/AA carriers) than in the nonpersonalized group (level 0) but not in the other personalized groups (level 1 and 2). Mean reductions in weight and WC at month 6 were greater for FTO risk carriers than for noncarriers in the level 3 group [-2.28 kg (95% CI: -3.06, -1.48 kg) compared with -1.99 kg (-2.19, -0.19 kg), respectively (P = 0.037); and -4.34 cm (-5.63, -3.08 cm) compared with -1.99 cm (-4.04, -0.05 cm), respectively, (P = 0.048)].Conclusions: There are greater body weight and WC reductions in risk carriers than in nonrisk carriers of the FTO gene. This trial was registered at clinicaltrials.gov as NCT01530139. © 2017 American Society

  1. Are Africans, Europeans, and Asians different "races"? A guided-inquiry lab for introducing undergraduate students to genetic diversity and preparing them to study natural selection.

    Science.gov (United States)

    Kalinowski, Steven T; Andrews, Tessa M; Leonard, Mary J; Snodgrass, Meagan

    2012-01-01

    Many students do not recognize that individual organisms within populations vary, and this may make it difficult for them to recognize the essential role variation plays in natural selection. Also, many students have weak scientific reasoning skills, and this makes it difficult for them to recognize misconceptions they might have. This paper describes a 2-h laboratory for college students that introduces them to genetic diversity and gives them practice using hypothetico-deductive reasoning. In brief, the lab presents students with DNA sequences from Africans, Europeans, and Asians, and asks students to determine whether people from each continent qualify as distinct "races." Comparison of the DNA sequences shows that people on each continent are not more similar to one another than to people on other continents, and therefore do not qualify as distinct races. Ninety-four percent of our students reported that the laboratory was interesting, and 79% reported that it was a valuable learning experience. We developed and used a survey to measure the extent to which students recognized variation and its significance within populations and showed that the lab increased student awareness of variation. We also showed that the lab improved the ability of students to construct hypothetico-deductive arguments.

  2. Landscape genetics for the empirical assessment of resistance surfaces: the European pine marten (Martes martes as a target-species of a regional ecological network.

    Directory of Open Access Journals (Sweden)

    Aritz Ruiz-González

    Full Text Available Coherent ecological networks (EN composed of core areas linked by ecological corridors are being developed worldwide with the goal of promoting landscape connectivity and biodiversity conservation. However, empirical assessment of the performance of EN designs is critical to evaluate the utility of these networks to mitigate effects of habitat loss and fragmentation. Landscape genetics provides a particularly valuable framework to address the question of functional connectivity by providing a direct means to investigate the effects of landscape structure on gene flow. The goals of this study are (1 to evaluate the landscape features that drive gene flow of an EN target species (European pine marten, and (2 evaluate the optimality of a regional EN design in providing connectivity for this species within the Basque Country (North Spain. Using partial Mantel tests in a reciprocal causal modeling framework we competed 59 alternative models, including isolation by distance and the regional EN. Our analysis indicated that the regional EN was among the most supported resistance models for the pine marten, but was not the best supported model. Gene flow of pine marten in northern Spain is facilitated by natural vegetation, and is resisted by anthropogenic landcover types and roads. Our results suggest that the regional EN design being implemented in the Basque Country will effectively facilitate gene flow of forest dwelling species at regional scale.

  3. Interactions of Dietary Whole-Grain Intake With Fasting Glucose– and Insulin-Related Genetic Loci in Individuals of European Descent

    Science.gov (United States)

    Nettleton, Jennifer A.; McKeown, Nicola M.; Kanoni, Stavroula; Lemaitre, Rozenn N.; Hivert, Marie-France; Ngwa, Julius; van Rooij, Frank J.A.; Sonestedt, Emily; Wojczynski, Mary K.; Ye, Zheng; Tanaka, Tosh

    2010-01-01

    OBJECTIVE Whole-grain foods are touted for multiple health benefits, including enhancing insulin sensitivity and reducing type 2 diabetes risk. Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) associated with fasting glucose and insulin concentrations in individuals free of diabetes. We tested the hypothesis that whole-grain food intake and genetic variation interact to influence concentrations of fasting glucose and insulin. RESEARCH DESIGN AND METHODS Via meta-analysis of data from 14 cohorts comprising ∼48,000 participants of European descent, we studied interactions of whole-grain intake with loci previously associated in GWAS with fasting glucose (16 loci) and/or insulin (2 loci) concentrations. For tests of interaction, we considered a P value fasting glucose and insulin concentrations independent of demographics, other dietary and lifestyle factors, and BMI (β [95% CI] per 1-serving-greater whole-grain intake: −0.009 mmol/l glucose [−0.013 to −0.005], P fasting insulin (P = 0.006), where greater whole-grain intake was associated with a smaller reduction in fasting insulin concentrations in those with the insulin-raising allele. CONCLUSIONS Our results support the favorable association of whole-grain intake with fasting glucose and insulin and suggest a potential interaction between variation in GCKR and whole-grain intake in influencing fasting insulin concentrations. PMID:20693352

  4. SNPs selected by information content outperform randomly selected microsatellite loci for delineating genetic identification and introgression in the endangered dark European honeybee (Apis mellifera mellifera).

    Science.gov (United States)

    Muñoz, Irene; Henriques, Dora; Jara, Laura; Johnston, J Spencer; Chávez-Galarza, Julio; De La Rúa, Pilar; Pinto, M Alice

    2017-07-01

    The honeybee (Apis mellifera) has been threatened by multiple factors including pests and pathogens, pesticides and loss of locally adapted gene complexes due to replacement and introgression. In western Europe, the genetic integrity of the native A. m. mellifera (M-lineage) is endangered due to trading and intensive queen breeding with commercial subspecies of eastern European ancestry (C-lineage). Effective conservation actions require reliable molecular tools to identify pure-bred A. m. mellifera colonies. Microsatellites have been preferred for identification of A. m. mellifera stocks across conservation centres. However, owing to high throughput, easy transferability between laboratories and low genotyping error, SNPs promise to become popular. Here, we compared the resolving power of a widely utilized microsatellite set to detect structure and introgression with that of different sets that combine a variable number of SNPs selected for their information content and genomic proximity to the microsatellite loci. Contrary to every SNP data set, microsatellites did not discriminate between the two lineages in the PCA space. Mean introgression proportions were identical across the two marker types, although at the individual level, microsatellites' performance was relatively poor at the upper range of Q-values, a result reflected by their lower precision. Our results suggest that SNPs are more accurate and powerful than microsatellites for identification of A. m. mellifera colonies, especially when they are selected by information content. © 2016 John Wiley & Sons Ltd.

  5. Mathematical modelling of metabolism

    DEFF Research Database (Denmark)

    Gombert, Andreas Karoly; Nielsen, Jens

    2000-01-01

    Mathematical models of the cellular metabolism have a special interest within biotechnology. Many different kinds of commercially important products are derived from the cell factory, and metabolic engineering can be applied to improve existing production processes, as well as to make new processes...... availability of genomic information and powerful analytical techniques, mathematical models also serve as a tool for understanding the cellular metabolism and physiology....... available. Both stoichiometric and kinetic models have been used to investigate the metabolism, which has resulted in defining the optimal fermentation conditions, as well as in directing the genetic changes to be introduced in order to obtain a good producer strain or cell line. With the increasing...

  6. Mathematical scandals

    CERN Document Server

    Pappas, Theoni

    1997-01-01

    In this highly readable volume of vignettes of mathematical scandals and gossip, Theoni Pappas assembles 29 fascinating stories of intrigue and the bizarre ? in short, the human background of the history of mathematics. Might a haberdasher have changed Einstein's life? Why was the first woman mathematician murdered? How come there's no Nobel Prize in mathematics?Mathematics is principally about numbers, equations, and solutions, all of them precise and timeless. But, behind this arcane matter lies the sometimes sordid world of real people, whose rivalries and deceptions

  7. Financial mathematics

    CERN Document Server

    Jothi, A Lenin

    2009-01-01

    Financial services, particularly banking and insurance services is the prominent sector for the development of a nation. After the liberalisation of financial sector in India, the scope of getting career opportunities has been widened. It is heartening to note that various universities in India have introduced professional courses on banking and insurance. A new field of applied mathematics has come into prominence under the name of Financial Mathematics. Financial mathematics has attained much importance in the recent years because of the role played by mathematical concepts in decision - m

  8. Mathematical tapas

    CERN Document Server

    Hiriart-Urruty, Jean-Baptiste

    2017-01-01

    This textbook presents a collection of interesting and sometimes original exercises for motivated students in mathematics. Written in the same spirit as Volume 1, this second volume of Mathematical Tapas includes carefully selected problems at the intersection between undergraduate and graduate level. Hints, answers and (sometimes) comments are presented alongside the 222 “tapas” as well as 8 conjectures or open problems. Topics covered include metric, normed, Banach, inner-product and Hilbert spaces; differential calculus; integration; matrices; convexity; and optimization or variational problems. Suitable for advanced undergraduate and graduate students in mathematics, this book aims to sharpen the reader’s mathematical problem solving abilities.

  9. Mathematics everywhere

    CERN Document Server

    Aigner, Martin; Spain, Philip G

    2010-01-01

    Mathematics is all around us. Often we do not realize it, though. Mathematics Everywhere is a collection of presentations on the role of mathematics in everyday life, through science, technology, and culture. The common theme is the unique position of mathematics as the art of pure thought and at the same time as a universally applicable science. The authors are renowned mathematicians; their presentations cover a wide range of topics. From compact discs to the stock exchange, from computer tomography to traffic routing, from electronic money to climate change, they make the "math inside" unde

  10. Murine cytomegalovirus is not restricted to the house mouse Mus musculus domesticus: prevalence and genetic diversity in the European house mouse hybrid zone.

    Science.gov (United States)

    Goüy de Bellocq, Joëlle; Baird, Stuart J E; Albrechtová, Jana; Sobeková, Karolína; Piálek, Jaroslav

    2015-01-01

    Murine cytomegalovirus (MCMV) is a betaherpesvirus of the house mouse, Mus musculus domesticus. It is a common infectious agent of wild mice and a highly studied pathogen of the laboratory mouse. Betaherpesviruses are specific to their hosts, and it is not known if other Mus taxa carry MCMV or if it is restricted to M. m. domesticus. We sampled mice over a 145-km transect of Bavaria-Bohemia crossing a hybrid zone between M. m. domesticus and Mus musculus musculus in order to investigate the occurrence of MCMV in two Mus subspecies and to test the limits of the specificity of the virus for its host. We hypothesized that if the two subspecies carry MCMV and if the virus is highly specific to its host, divergent MCMV lineages would have codiverged with their hosts and would have a geographical distribution constrained by the host genetic background. A total of 520 mice were tested by enzyme-linked immunosorbent assay (ELISA) and/or nested PCR targeting the M94 gene. Seropositive and PCR-positive individuals were found in both Mus subspecies. Seroprevalence was high, at 79.4%, but viral DNA was detected in only 41.7% of mice. Sequencing revealed 20 haplotypes clustering in 3 clades that match the host genetic structure in the hybrid zone, showing 1 and 2 MCMV lineages in M. m. domesticus and M. m. musculus, respectively. The estimated time to the most recent common ancestor (1.1 million years ago [Mya]) of the MCMVs matches that of their hosts. In conclusion, MCMV has coevolved with these hosts, suggesting that its diversity in nature may be underappreciated, since other members of the subgenus Mus likely carry different MCMVs. Murine cytomegalovirus (MCMV) is a betaherpesvirus of the house mouse, Mus musculus domesticus, an important lab model for human cytomegalovirus (HCMV) infection. The majority of lab studies are based on only two strains of MCMVs isolated from M. m. domesticus, Smith and K181, the latter derived from repeated passage of Smith in mouse

  11. Research in Mathematics Education and Language

    Science.gov (United States)

    Planas, Núria

    2016-01-01

    A synthesis of reasons for the production of this monograph is presented with a focus on contemporary research in the context of the Ninth Congress of the European Society for Research in Mathematics Education. Within the domain of mathematics and language, three lines of concern are addressed: (1) classroom discourse, (2) language diversity, and…

  12. Experimental Mathematics and Mathematical Physics

    Energy Technology Data Exchange (ETDEWEB)

    Bailey, David H.; Borwein, Jonathan M.; Broadhurst, David; Zudilin, Wadim

    2009-06-26

    One of the most effective techniques of experimental mathematics is to compute mathematical entities such as integrals, series or limits to high precision, then attempt to recognize the resulting numerical values. Recently these techniques have been applied with great success to problems in mathematical physics. Notable among these applications are the identification of some key multi-dimensional integrals that arise in Ising theory, quantum field theory and in magnetic spin theory.

  13. Mathematics 2

    CERN Document Server

    Kodaira, Kunihiko

    1996-01-01

    This is the translation from the Japanese textbook for the grade 11 course, "General Mathematics". It is part of the easier of the three elective courses in mathematics offered at this level and is taken by about 40% of students. The book covers basic notions of probability and statistics, vectors, exponential, logarithmic, and trigonometric functions, and an introduction to differentiation and integration.

  14. Mathematical logic

    CERN Document Server

    Kleene, Stephen Cole

    1967-01-01

    Undergraduate students with no prior instruction in mathematical logic will benefit from this multi-part text. Part I offers an elementary but thorough overview of mathematical logic of 1st order. Part II introduces some of the newer ideas and the more profound results of logical research in the 20th century. 1967 edition.

  15. Mathematics Tables

    OpenAIRE

    1998-01-01

    Version 2.6 Initial typesetting: Carroll Wilde Graphics: David Canright Editing: Elle Zimmerman||Contributed for inclusion in Calhoun by Prof. Charles Therrien This booklet provides convenient access to formulas and other data that are frequently used in mathematics courses. If a more comprehensive reference is needed, see, for example, the STANDARD MATHEMATICAL TABLES published by the Chemical Rubber Company, Cleveland, Ohio.

  16. Mathematics unbound

    CERN Document Server

    Parshall, Karen Hunger

    2002-01-01

    Although today's mathematical research community takes its international character very much for granted, this "global nature" is relatively recent, having evolved over a period of roughly 150 years-from the beginning of the nineteenth century to the middle of the twentieth century. During this time, the practice of mathematics changed from being centered on a collection of disparate national communities to being characterized by an international group of scholars for whom the goal of mathematical research and cooperation transcended national boundaries. Yet, the development of an international community was far from smooth and involved obstacles such as war, political upheaval, and national rivalries. Until now, this evolution has been largely overlooked by historians and mathematicians alike. This book addresses the issue by bringing together essays by twenty experts in the history of mathematics who have investigated the genesis of today's international mathematical community. This includes not only develo...

  17. Mathematical biology

    CERN Document Server

    Murray, James D

    1993-01-01

    The book is a textbook (with many exercises) giving an in-depth account of the practical use of mathematical modelling in the biomedical sciences. The mathematical level required is generally not high and the emphasis is on what is required to solve the real biological problem. The subject matter is drawn, e.g. from population biology, reaction kinetics, biological oscillators and switches, Belousov-Zhabotinskii reaction, reaction-diffusion theory, biological wave phenomena, central pattern generators, neural models, spread of epidemics, mechanochemical theory of biological pattern formation and importance in evolution. Most of the models are based on real biological problems and the predictions and explanations offered as a direct result of mathematical analysis of the models are important aspects of the book. The aim is to provide a thorough training in practical mathematical biology and to show how exciting and novel mathematical challenges arise from a genuine interdisciplinary involvement with the biosci...

  18. Genetic data from avian influenza and avian paramyxoviruses generated by the European network of excellence (EPIZONE) between 2006 and 2011 - Review and recommendations for surveillance

    NARCIS (Netherlands)

    Dundon, W.G.; Heidari, A.; Fusaro, A.; Monne, I.; Beato, M.S.; Cattoli, G.; Koch, G.; Starick, E.; Brown, I.H.; Aldous, E.W.; Briand, F.X.; Gall-Reculé, Le G.; Jestin, V.; Jorgensen, P.H.; Berg, M.; Zohari, S.; Metreveli, G.; Munir, M.; Stahl, K.; Albina, E.; Hammoumi, S.; Gil, P.; Servan de Almeida, R.; Smietanka, K.; Domanska-Blicharz, K.; Minta, Z.; Borm, van S.; Berg, van den T.; Martin, A.M.; Barbieri, I.; Capua, I.

    2012-01-01

    Since 2006, the members of the molecular epidemiological working group of the European “EPIZONE” network of excellence have been generating sequence data on avianinfluenza and avianparamyxoviruses from both European and African sources in an attempt to more fully understand the circulation and

  19. Genetic data from avian influenza and avian paramyxoviruses generated by the European network of excellence (EPIZONE) between 2006 and 2011—Review and recommendations for surveillance

    DEFF Research Database (Denmark)

    Dundon, William G.; Heidari, Alireza; Fusaro, Alice

    2012-01-01

    Since 2006, the members of the molecular epidemiological working group of the European “EPIZONE” network of excellence have been generating sequence data on avian influenza and avian paramyxoviruses from both European and African sources in an attempt to more fully understand the circulation and ...

  20. Speed mathematics

    CERN Document Server

    Handley, Bill

    2012-01-01

    This new, revised edition of the bestselling Speed Mathematics features new chapters on memorising numbers and general information, calculating statistics and compound interest, square roots, logarithms and easy trig calculations. Written so anyone can understand, this book teaches simple strategies that will enable readers to make lightning-quick calculations. People who excel at mathematics use better strategies than the rest of us; they are not necessarily more intelligent. With Speed Mathematics you'll discover methods to make maths easy and fun. This book is perfect for stud

  1. Mathematical physics

    CERN Document Server

    Geroch, Robert

    1985-01-01

    Mathematical Physics is an introduction to such basic mathematical structures as groups, vector spaces, topological spaces, measure spaces, and Hilbert space. Geroch uses category theory to emphasize both the interrelationships among different structures and the unity of mathematics. Perhaps the most valuable feature of the book is the illuminating intuitive discussion of the ""whys"" of proofs and of axioms and definitions. This book, based on Geroch's University of Chicago course, will be especially helpful to those working in theoretical physics, including such areas as relativity, particle

  2. Engineering mathematics

    CERN Document Server

    Bird, John

    2014-01-01

    A practical introduction to the core mathematics required for engineering study and practiceNow in its seventh edition, Engineering Mathematics is an established textbook that has helped thousands of students to succeed in their exams.John Bird's approach is based on worked examples and interactive problems. This makes it ideal for students from a wide range of academic backgrounds as the student can work through the material at their own pace. Mathematical theories are explained in a straightforward manner, being supported by practical engineering examples and applications in order to ensure

  3. AND THE EUROPEAN UNION

    African Journals Online (AJOL)

    Regulations governing the production and use of genetically modified organisms have been developed in the United Kingdom since 1976. Regulations covering the release of transgenic organisms into the environment were initially voluntary. Since 1990, the European Economic Commission (EEC) Directive. 90/219 and ...

  4. Mathematical modelling

    DEFF Research Database (Denmark)

    Blomhøj, Morten

    2004-01-01

    modelling, however, can be seen as a practice of teaching that place the relation between real life and mathematics into the centre of teaching and learning mathematics, and this is relevant at all levels. Modelling activities may motivate the learning process and help the learner to establish cognitive...... roots for the construction of important mathematical concepts. In addition competences for setting up, analysing and criticising modelling processes and the possible use of models is a formative aim in this own right for mathematics teaching in general education. The paper presents a theoretical...... framework, which has been used for designing modelling courses, analysing students’ modelling activities, identifying learning obstacles in the modelling process and to guide the teachers interaction with the students during their work. This will be illustrated with an example from a developmental project...

  5. Mathematical modelling

    CERN Document Server

    2016-01-01

    This book provides a thorough introduction to the challenge of applying mathematics in real-world scenarios. Modelling tasks rarely involve well-defined categories, and they often require multidisciplinary input from mathematics, physics, computer sciences, or engineering. In keeping with this spirit of modelling, the book includes a wealth of cross-references between the chapters and frequently points to the real-world context. The book combines classical approaches to modelling with novel areas such as soft computing methods, inverse problems, and model uncertainty. Attention is also paid to the interaction between models, data and the use of mathematical software. The reader will find a broad selection of theoretical tools for practicing industrial mathematics, including the analysis of continuum models, probabilistic and discrete phenomena, and asymptotic and sensitivity analysis.

  6. Algorithmic mathematics

    CERN Document Server

    Hougardy, Stefan

    2016-01-01

    Algorithms play an increasingly important role in nearly all fields of mathematics. This book allows readers to develop basic mathematical abilities, in particular those concerning the design and analysis of algorithms as well as their implementation. It presents not only fundamental algorithms like the sieve of Eratosthenes, the Euclidean algorithm, sorting algorithms, algorithms on graphs, and Gaussian elimination, but also discusses elementary data structures, basic graph theory, and numerical questions. In addition, it provides an introduction to programming and demonstrates in detail how to implement algorithms in C++. This textbook is suitable for students who are new to the subject and covers a basic mathematical lecture course, complementing traditional courses on analysis and linear algebra. Both authors have given this "Algorithmic Mathematics" course at the University of Bonn several times in recent years.

  7. Mathematical physiology

    CERN Document Server

    Sneyd, James

    2009-01-01

    There has been a long history of interaction between mathematics and physiology. This book looks in detail at a wide selection of mathematical models in physiology, showing how physiological problems can be formulated and studied mathematically, and how such models give rise to interesting and challenging mathematical questions. With its coverage of many recent models it gives an overview of the field, while many older models are also discussed, to put the modern work in context. In this second edition the coverage of basic principles has been expanded to include such topics as stochastic differential equations, Markov models and Gibbs free energy, and the selection of models has also been expanded to include some of the basic models of fluid transport, respiration/perfusion, blood diseases, molecular motors, smooth muscle, neuroendrocine cells, the baroreceptor loop, turboglomerular oscillations, blood clotting and the retina. Owing to this extensive coverage, the second edition is published in two volumes. ...

  8. Mathematical modeling

    CERN Document Server

    Eck, Christof; Knabner, Peter

    2017-01-01

    Mathematical models are the decisive tool to explain and predict phenomena in the natural and engineering sciences. With this book readers will learn to derive mathematical models which help to understand real world phenomena. At the same time a wealth of important examples for the abstract concepts treated in the curriculum of mathematics degrees are given. An essential feature of this book is that mathematical structures are used as an ordering principle and not the fields of application. Methods from linear algebra, analysis and the theory of ordinary and partial differential equations are thoroughly introduced and applied in the modeling process. Examples of applications in the fields electrical networks, chemical reaction dynamics, population dynamics, fluid dynamics, elasticity theory and crystal growth are treated comprehensively.

  9. Association Between Myopia, Ultraviolet B Radiation Exposure, Serum Vitamin D Concentrations, and Genetic Polymorphisms in Vitamin D Metabolic Pathways in a Multicountry European Study.

    Science.gov (United States)

    Williams, Katie M; Bentham, Graham C G; Young, Ian S; McGinty, Ann; McKay, Gareth J; Hogg, Ruth; Hammond, Christopher J; Chakravarthy, Usha; Rahu, Mati; Seland, Johan; Soubrane, Gisele; Tomazzoli, Laura; Topouzis, Fotis; Fletcher, Astrid E

    2017-01-01

    Myopia is becoming increasingly common globally and is associated with potentially sight-threatening complications. Spending time outdoors is protective, but the mechanism underlying this association is poorly understood. To examine the association of myopia with ultraviolet B radiation (UVB; directly associated with time outdoors and sunlight exposure), serum vitamin D concentrations, and vitamin D pathway genetic variants, adjusting for years in education. A cross-sectional, population-based random sample of participants 65 years and older was chosen from 6 study centers from the European Eye Study between November 6, 2000, to November 15, 2002. Of 4187 participants, 4166 attended an eye examination including refraction, gave a blood sample, and were interviewed by trained fieldworkers using a structured questionnaire. Myopia was defined as a mean spherical equivalent of -0.75 diopters or less. Exclusion criteria included aphakia, pseudophakia, late age-related macular degeneration, and vision impairment due to cataract, resulting in 371 participants with myopia and 2797 without. Exposure to UVB estimated by combining meteorological and questionnaire data at different ages, single-nucleotide polymorphisms in vitamin D metabolic pathway genes, serum vitamin D3 concentrations, and years of education. Odds ratios (ORs) of UVB, serum vitamin D3 concentrations, vitamin D single-nucleotide polymorphisms, and myopia estimated from logistic regression. Of the included 3168 participants, the mean (SD) age was 72.4 (5) years, and 1456 (46.0%) were male. An SD increase in UVB exposure at age 14 to 19 years (OR, 0.81; 95% CI, 0.71-0.92) and 20 to 39 years (OR, 0.7; 95% CI, 0.62-0.93) was associated with a reduced adjusted OR of myopia; those in the highest tertile of years of education had twice the OR of myopia (OR, 2.08; 95% CI, 1.41-3.06). No independent associations between myopia and serum vitamin D3 concentrations nor variants in genes associated with vitamin D

  10. Discrete Mathematics

    DEFF Research Database (Denmark)

    Sørensen, John Aasted

    2010-01-01

    The introduction of the mathematics needed for analysis, design and verification of discrete systems, including applications within programming languages for computer systems. Course sessions and project work. Semester: Autumn 2010 Ectent: 5 ects Class size: 15......The introduction of the mathematics needed for analysis, design and verification of discrete systems, including applications within programming languages for computer systems. Course sessions and project work. Semester: Autumn 2010 Ectent: 5 ects Class size: 15...

  11. Discrete Mathematics

    DEFF Research Database (Denmark)

    Sørensen, John Aasted

    2010-01-01

    The introduction of the mathematics needed for analysis, design and verification of discrete systems, including applications within programming languages for computer systems. Course sessions and project work. Semester: Spring 2010 Ectent: 5 ects Class size: 18......The introduction of the mathematics needed for analysis, design and verification of discrete systems, including applications within programming languages for computer systems. Course sessions and project work. Semester: Spring 2010 Ectent: 5 ects Class size: 18...

  12. Effectiveness of microsatellite and SNP markers for parentage and identity analysis in species with low genetic diversity: the case of European bison

    DEFF Research Database (Denmark)

    Torskarska, M; Marshall, T; Kowalczyk, R

    2009-01-01

    The European bison (Bison bonasus) has recovered successfully after a severe bottleneck about 90 years ago. Pedigree analysis indicates that over 80% of the genes in the contemporary population descend from just 2 founder individuals and the pedigree-based inbreeding coefficient averages almost 0.......5, while microsatellite heterozygosity is around 0.3. This paper presents a comparison of the effectiveness of 17 microsatellite and 960 SNP markers in paternity and identity analysis in the Lowland line of European bison ('pure' European bison). Identity analysis revealed that 16% of the microsatellite...

  13. Mathematical Perspectives

    Energy Technology Data Exchange (ETDEWEB)

    Glimm, J.

    2009-10-14

    Progress for the past decade or so has been extraordinary. The solution of Fermat's Last Theorem [11] and of the Poincare Conjecture [1] have resolved two of the most outstanding challenges to mathematics. For both cases, deep and advanced theories and whole subfields of mathematics came into play and were developed further as part of the solutions. And still the future is wide open. Six of the original seven problems from the Clay Foundation challenge remain open, the 23 DARPA challenge problems are open. Entire new branches of mathematics have been developed, including financial mathematics and the connection between geometry and string theory, proposed to solve the problems of quantized gravity. New solutions of the Einstein equations, inspired by shock wave theory, suggest a cosmology model which fits accelerating expansion of the universe possibly eliminating assumptions of 'dark matter'. Intellectual challenges and opportunities for mathematics are greater than ever. The role of mathematics in society continues to grow; with this growth comes new opportunities and some growing pains; each will be analyzed here. We see a broadening of the intellectual and professional opportunities and responsibilities for mathematicians. These trends are also occuring across all of science. The response can be at the level of the professional societies, which can work to deepen their interactions, not only within the mathematical sciences, but also with other scientific societies. At a deeper level, the choices to be made will come from individual mathematicians. Here, of course, the individual choices will be varied, and we argue for respect and support for this diversity of responses. In such a manner, we hope to preserve the best of the present while welcoming the best of the new.

  14. Mathematical concepts

    CERN Document Server

    Jost, Jürgen

    2015-01-01

    The main intention of this book is to describe and develop the conceptual, structural and abstract thinking of mathematics. Specific mathematical structures are used to illustrate the conceptual approach; providing a deeper insight into mutual relationships and abstract common features. These ideas are carefully motivated, explained and illustrated by examples so that many of the more technical proofs can be omitted. The book can therefore be used: ·         simply as an overview of the panorama of mathematical structures and the relations between them, to be supplemented by more detailed texts whenever you want to acquire a working knowledge of some structure ·         by itself as a first introduction to abstract mathematics ·         together with existing textbooks, to put their results into a more general perspective ·         to gain a new and hopefully deeper perspective after having studied such textbooks Mathematical Concepts has a broader scope and is less detaile...

  15. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    2012-01-01

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing…

  16. Communicating the risks and benefits of genetically engineered food products to the public: The view of experts from four European countries

    DEFF Research Database (Denmark)

    Scholderer, Joachim; Balderjahn, Ingo; Will, Simone

    Executive summary 1. Previous research on the risks and benefits of genetically engineered food products has not accounted for risk communication issues. The introductory part of this paper develops a more comprehensive model. Risks and benefits enter the model as the input of a risk communication......, and the United Kingdom. Leading representatives of the following parties took part: scientific research, authorities responsible for the approval of genetically modified organisms, suppliers of genetically modified organisms, the food processing industry, associations of the food industry, agricultural...... to communication about genetically modified food products....

  17. Mathematical biophysics

    CERN Document Server

    Rubin, Andrew

    2014-01-01

    This book presents concise descriptions and analysis of the classical and modern models used in mathematical biophysics. The authors ask the question "what new information can be provided by the models that cannot be obtained directly from experimental data?" Actively developing fields such as regulatory mechanisms in cells and subcellular systems and electron transport and energy transport in membranes are addressed together with more classical topics such as metabolic processes, nerve conduction and heart activity, chemical kinetics, population dynamics, and photosynthesis. The main approach is to describe biological processes using different mathematical approaches necessary to reveal characteristic features and properties of simulated systems. With the emergence of powerful mathematics software packages such as MAPLE, Mathematica, Mathcad, and MatLab, these methodologies are now accessible to a wide audience. Provides succinct but authoritative coverage of a broad array of biophysical topics and models Wr...

  18. Mathematical writing

    CERN Document Server

    Vivaldi, Franco

    2014-01-01

    This book teaches the art of writing mathematics, an essential -and difficult- skill for any mathematics student.   The book begins with an informal introduction on basic writing principles and a review of the essential dictionary for mathematics. Writing techniques are developed gradually, from the small to the large: words, phrases, sentences, paragraphs, to end with short compositions. These may represent the introduction of a concept, the abstract of a presentation or the proof of a theorem. Along the way the student will learn how to establish a coherent notation, mix words and symbols effectively, write neat formulae, and structure a definition.   Some elements of logic and all common methods of proofs are featured, including various versions of induction and existence proofs. The book concludes with advice on specific aspects of thesis writing (choosing of a title, composing an abstract, compiling a bibliography) illustrated by large number of real-life examples. Many exercises are included; over 150...

  19. Mathematical tapas

    CERN Document Server

    Hiriart-Urruty, Jean-Baptiste

    This book contains a collection of exercises (called “tapas”) at undergraduate level, mainly from the fields of real analysis, calculus, matrices, convexity, and optimization. Most of the problems presented here are non-standard and some require broad knowledge of different mathematical subjects in order to be solved. The author provides some hints and (partial) answers and also puts these carefully chosen exercises into context, presents information on their origins, and comments on possible extensions. With stars marking the levels of difficulty, these tapas show or prove something interesting, challenge the reader to solve and learn, and may have surprising results. This first volume of Mathematical Tapas will appeal to mathematicians, motivated undergraduate students from science-based areas, and those generally interested in mathematics.

  20. Physical mathematics

    CERN Document Server

    Cahill, Kevin

    2013-01-01

    Unique in its clarity, examples and range, Physical Mathematics explains as simply as possible the mathematics that graduate students and professional physicists need in their courses and research. The author illustrates the mathematics with numerous physical examples drawn from contemporary research. In addition to basic subjects such as linear algebra, Fourier analysis, complex variables, differential equations and Bessel functions, this textbook covers topics such as the singular-value decomposition, Lie algebras, the tensors and forms of general relativity, the central limit theorem and Kolmogorov test of statistics, the Monte Carlo methods of experimental and theoretical physics, the renormalization group of condensed-matter physics and the functional derivatives and Feynman path integrals of quantum field theory.

  1. Analysis of the concept of informed consent concerning the use of genetic material according to the European Convention on Bioethics and in other solutionsm - Propositions for broad consent for future genetic research from the point of view of the activity of the Biobank.

    Science.gov (United States)

    Patryn, Rafał; Sak, Jarosław

    2017-09-21

    The aim of the article is a critical presentation of the typology of consents included in the European Convention on Bioethics and in other formal solutions concerning the gathering of genetic material in institutions called Biobanks. Existing types of Acts of Consent are inaccurate in their scope and possess insufficient information regarding the gathering of genetic material (application, usage, processing) and their final (future and diverse) use. Lack of precise legal regulations on the broad future use of genetic material may result in various formal problems relating both to research participants as well as those commissioning the research. Ultimately, it may lead to various complications with the appropriate legal interpretation of consent and possible claims on behalf of the donors. The presented proposition of consent with a terminal premise is to be applied eventually to legal and formal aspects of the collecting of genetic material. It is a possible solution which would clarify the issue of informed consent, and may be implemented in the regulations of the Convention as well as constitute a self-contained legislative solution to this matter. For example, Polish law in its current form, without the ratification of the Bioethical Convention, allows the collecting of material for genetic testing for determination of the risk of genetic defects in common genetic material from people who are planning to have a child.

  2. Mathematical morphology

    CERN Document Server

    Najman, Laurent

    2013-01-01

    Mathematical Morphology allows for the analysis and processing of geometrical structures using techniques based on the fields of set theory, lattice theory, topology, and random functions. It is the basis of morphological image processing, and finds applications in fields including digital image processing (DSP), as well as areas for graphs, surface meshes, solids, and other spatial structures. This book presents an up-to-date treatment of mathematical morphology, based on the three pillars that made it an important field of theoretical work and practical application: a solid theoretical foun

  3. Mathematical Lives

    CERN Document Server

    Bartocci, Claudio; Guerraggio, Angelo; Lucchetti, Roberto; Williams, Kim

    2011-01-01

    Steps forward in mathematics often reverberate in other scientific disciplines, and give rise to innovative conceptual developments or find surprising technological applications. This volume brings to the forefront some of the proponents of the mathematics of the twentieth century, who have put at our disposal new and powerful instruments for investigating the reality around us. The portraits present people who have impressive charisma and wide-ranging cultural interests, who are passionate about defending the importance of their own research, are sensitive to beauty, and attentive to the soci

  4. Mathematical papers

    CERN Document Server

    Green, George

    2005-01-01

    An almost entirely self-taught mathematical genius, George Green (1793 -1841) is best known for Green's theorem, which is used in almost all computer codes that solve partial differential equations. He also published influential essays, or papers, in the fields of hydrodynamics, electricity, and magnetism. This collection comprises his most significant works.The first paper, ""An Essay on the Application of Mathematical Analysis to the Theories of Electricity and Magnetism,"" which is also the longest and perhaps the most Important, appeared In 1828. It introduced the term potential as desig

  5. The European Prader-Willi Syndrome Clinical Research Database: An Aid in the Investigation of a Rare Genetically Determined Neurodevelopmental Disorder

    Science.gov (United States)

    Holland, A.; Whittington, J.; Cohen, O.; Curfs, L.; Delahaye, F.; Dudley, O.; Horsthemke, B.; Lindgren, A. -C.; Nourissier, C.; Sharma, N.; Vogels, A.

    2009-01-01

    Background: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research…

  6. ELEMENTS OF COMPUTER MATHEMATICS,

    Science.gov (United States)

    MATHEMATICS , COMPUTERS), (*COMPUTERS, MATHEMATICS ), (*NUMERICAL ANALYSIS, COMPUTERS), TABLES(DATA), FUNCTIONS( MATHEMATICS ), EQUATIONS, INTEGRALS, DIFFERENTIAL EQUATIONS, POLYNOMIALS, LEAST SQUARES METHOD, HARMONIC ANALYSIS, USSR

  7. Learning Mathematics.

    Science.gov (United States)

    Lapointe, Archie E.; And Others

    In 1990-91, 20 countries (Brazil, Canada, China, England, France, Hungary, Ireland, Israel, Italy, Jordan, Korea, Mozambique, Portugal, Scotland, Slovenia, Soviet Union, Spain, Switzerland, Taiwan, and the United States) surveyed the mathematics and science performance of 13-year-old students (and 14 countries also assessed 9-year-olds in the same…

  8. Mathematical stereochemistry

    CERN Document Server

    Fujita, Shinsaku

    2015-01-01

    Chirality and stereogenicity are closely related concepts and their differentiation and description is still a challenge in chemoinformatics. A new stereoisogram approach, developed by the author, is introduced in this book, providing a theoretical framework for mathematical aspects of modern stereochemistry. The discussion covers point-groups and permutation symmetry and exemplifies the concepts using organic molecules and inorganic complexes.

  9. Revisiting Mathematics.

    Science.gov (United States)

    Koch, Laura Coffin

    1992-01-01

    Outlines a constructivist model for teaching basic mathematical concepts and processes to underprepared college students. Explores five types of classroom interaction incorporated into the model, including peer teaching, interactive teaching, and independent learning. Reports on an assessment of the constructivist approach at the University of…

  10. The language of mathematics telling mathematical tales

    CERN Document Server

    Barton, Bill

    2008-01-01

    Everyday mathematical ideas are expressed differently in different languages. This book probes those differences and explores their implications for mathematics education, arguing for alternatives to how we teach and learn mathematics.

  11. European communion

    DEFF Research Database (Denmark)

    Manners, Ian James

    2013-01-01

    Political theory of European union, through an engagement between political concepts and theoretical understandings, provides a means of identifying the EU as a political object. It is argued that understanding the projects, processes and products of European union, based on ‘sharing’ or ‘communion......’, provides a better means of perceiving the EU as a political object rather than terms such as ‘integration’ or ‘co-operation’. The concept of ‘European communion’ is defined as the ‘subjective sharing of relationships’, understood as the extent to which individuals or groups believe themselves to be sharing...... relations (or not), and the consequences of these beliefs for European political projects, processes and products. By exploring European communion through an engagement with contemporary political theory, using very brief illustrations from the Treaty of Lisbon, the article also suggests that European...

  12. Understanding in mathematics

    CERN Document Server

    Sierpinska, Anna

    1994-01-01

    The concept of understanding in mathematics with regard to mathematics education is considered in this volume, the main problem for mathematics teachers being how to facilitate their students'' understanding of the mathematics being taught.

  13. On Genetic and Evolution Algebras

    Science.gov (United States)

    Qaralleh, Izzat

    2017-03-01

    The genetic and evolution algebras generally are non-associative algebra. The concept of evolution and genetic algebras were introduced to answer the question what non-Mendelian genetics offers to mathematics. This paper we review some results of evolution and genetic algebras.

  14. Mathematical epidemiology

    CERN Document Server

    Driessche, Pauline; Wu, Jianhong

    2008-01-01

    Based on lecture notes of two summer schools with a mixed audience from mathematical sciences, epidemiology and public health, this volume offers a comprehensive introduction to basic ideas and techniques in modeling infectious diseases, for the comparison of strategies to plan for an anticipated epidemic or pandemic, and to deal with a disease outbreak in real time. It covers detailed case studies for diseases including pandemic influenza, West Nile virus, and childhood diseases. Models for other diseases including Severe Acute Respiratory Syndrome, fox rabies, and sexually transmitted infections are included as applications. Its chapters are coherent and complementary independent units. In order to accustom students to look at the current literature and to experience different perspectives, no attempt has been made to achieve united writing style or unified notation. Notes on some mathematical background (calculus, matrix algebra, differential equations, and probability) have been prepared and may be downlo...

  15. MATHEMATICAL CONSTANTS.

    Energy Technology Data Exchange (ETDEWEB)

    Robinson, H.P.; Potter, Elinor

    1971-03-01

    This collection of mathematical data consists of two tables of decimal constants arranged according to size rather than function, a third table of integers from 1 to 1000, giving some of their properties, and a fourth table listing some infinite series arranged according to increasing size of the coefficients of the terms. The decimal values of Tables I and II are given to 20 D.

  16. Northern range expansion of European populations of the wasp spider Argiope bruennichi is associated with global warming-correlated genetic admixture and population-specific temperature adaptations.

    Science.gov (United States)

    Krehenwinkel, Henrik; Tautz, Diethard

    2013-04-01

    Poleward range expansions are observed for an increasing number of species, which may be an effect of global warming during the past decades. However, it is still not clear in how far these expansions reflect simple geographical shifts of species ranges, or whether new genetic adaptations play a role as well. Here, we analyse the expansion of the wasp spider Argiope bruennichi into Northern Europe during the last century. We have used a range-wide sampling of contemporary populations and historical specimens from museums to trace the phylogeography and genetic changes associated with the range shift. Based on the analysis of mitochondrial, microsatellite and SNP markers, we observe a higher level of genetic diversity in the expanding populations, apparently due to admixture of formerly isolated lineages. Using reciprocal transplant experiments for testing overwintering tolerance, as well as temperature preference and tolerance tests in the laboratory, we find that the invading spiders have possibly shifted their temperature niche. This may be a key adaptation for survival in Northern latitudes. The museum samples allow a reconstruction of the invasion's genetic history. A first, small-scale range shift started around 1930, in parallel with the onset of global warming. A more massive invasion of Northern Europe associated with genetic admixture and morphological changes occurred in later decades. We suggest that the latter range expansion into far Northern latitudes may be a consequence of the admixture that provided the genetic material for adaptations to new environmental regimes. Hence, global warming could have facilitated the initial admixture of populations and this resulted in genetic lineages with new habitat preferences. © 2013 Blackwell Publishing Ltd.

  17. European Institutions?

    NARCIS (Netherlands)

    Meacham, Darian

    2016-01-01

    The aim of this article is to sketch a phenomenological theory of political institutions and to apply it to some objections and questions raised by Pierre Manent about the project of the European Union and more specifically the question of “European Construction”, i.e. what is the aim of the

  18. Selective Europeanization

    DEFF Research Database (Denmark)

    Hoch Jovanovic, Tamara; Lynggaard, Kennet

    2014-01-01

    political contexts at the European level. We further show how the “translation” of international norms to a domestic context has worked to reinforce the original institutional setup, dating back to the mid-1950s. The translation of European-level minority policy developed in the 1990s and 2000s works most...

  19. Depleted genetic variation of the European ground squirrel in Central Europe in both microsatellites and the major histocompatibility complex gene: implications for conservation

    Czech Academy of Sciences Publication Activity Database

    Říčanová, Štěpánka; Bryja, Josef; Cosson, J.-F.; Gedeon, C.; Choleva, Lukáš; Ambros, M.; Sedláček, F.

    2011-01-01

    Roč. 12, č. 4 (2011), s. 1115-1129 ISSN 1566-0621 R&D Projects: GA MŠk LC06073 Grant - others:European Science Foundation(XE) ConGen EX/1141 Institutional research plan: CEZ:AV0Z60930519; CEZ:AV0Z50450515 Keywords : Souslik * Endangered species * Habitat fragmentation * DRB * MHC Class II Subject RIV: EG - Zoology Impact factor: 1.610, year: 2011

  20. Teaching Mathematical Modeling in Mathematics Education

    Science.gov (United States)

    Saxena, Ritu; Shrivastava, Keerty; Bhardwaj, Ramakant

    2016-01-01

    Mathematics is not only a subject but it is also a language consisting of many different symbols and relations. Taught as a compulsory subject up the 10th class, students are then able to choose whether or not to study mathematics as a main subject. The present paper discusses mathematical modeling in mathematics education. The article provides…

  1. Teachers' Mathematics as Mathematics-at-Work

    Science.gov (United States)

    Bednarz, Nadine; Proulx, Jérôme

    2017-01-01

    Through recognising mathematics teachers as professionals who use mathematics in their workplace, this article traces a parallel between the mathematics enacted by teachers in their practice and the mathematics used in workplaces found in studies of professionals (e.g. nurses, engineers, bankers). This parallel is developed through the five…

  2. LIMES Large Infrastructure in Mathematics - Enhanced Services

    CERN Document Server

    Fachinformationszentrum Energie, Physik, Mathematik. Karlsruhe

    The Large Infrastructure in Mathematics - Enhanced Services (LIMES) Project is a RTD project within the Fifth (EC) Framework Programme - Horizontal Programme "Improving human research potential and the socio-economic knowledge base", Access to Resear The objective of this project is to upgrade the existing database Zentralblatt-MATH into a European based world class database for mathematics (pure and applied) by a process of technical improvement and wide Europeanisation, improving the present distribuited system. The goal is to make Zentralblatt MATH a world reference database, offering full coverage of the mathematics literature worldwide ncluding bibliographic data, peer reviews and/or abstracts, indexing, classification and search,

  3. Advanced mathematics

    CERN Document Server

    Gupta, CB; Kumar, V

    2009-01-01

    About the Book: This book `Advanced Mathematics` is primarily designed for B.Tech., IV Semester (EE and EC branch) students of Rajasthan Technical University. The subject matter is discussed in a lucid manner. The discussion is covered in five units: Unit I: deals with Numerical Analysis, Unit-II: gives different aspects of Numerical Analysis, Unit-III: Special Function, Unit-IV:Statistics and Probability, Calculus of Variation and Transforms are discussed in Unit V. All the theoretical concepts are explained through solved examples. Besides, a large number of unsolved problems on each top

  4. Structure of the genetic diversity in Black poplar (Populus nigra L.) populations across European river systems: consequences for conservation and restoration

    NARCIS (Netherlands)

    Smulders, M.J.M.; Cottrell, J.E.; Lefevre, F.; Schoot, van der J.; Arens, P.F.P.; Vosman, B.; Tabbener, H.E.; Grassi, F.; Fossati, T.; Castiglione, S.; Krystufek, V.; Fluch, S.; Burg, K.; Vornam, B.; Pohl, A.; Gebhardt, K.; Alba, N.; Agúndez, D.; Maestro, C.; Notivol, E.; Volosyanchuck, R.; Pospiskova, M.; Bordacs, S.; Bovenschen, J.; Dam, van B.C.; Koelewijn, H.P.; Halfmaerten, D.; Ivens, B.; Slycken, Van J.; Vanden Broeck, A.; Storme, V.; Boerjan, W.

    2008-01-01

    Black poplar (Populus nigra L.) is a keystone species for riparian ecosystems in Europe. We analysed the structure of genetic diversity of 17 populations from 11 river valleys that are part of seven catchment systems (Danube, Ebro, Elbe, Po, Rhine, Rhone, and Usk) in Europe, in relation to geography

  5. Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel

    DEFF Research Database (Denmark)

    Ference, Brian A; Ginsberg, Henry N; Graham, Ian

    2017-01-01

    Aims: To appraise the clinical and genetic evidence that low-density lipoproteins (LDLs) cause atherosclerotic cardiovascular disease (ASCVD). Methods and results: We assessed whether the association between LDL and ASCVD fulfils the criteria for causality by evaluating the totality of evidence f...

  6. Genetically Predicted Body Mass Index and Breast Cancer Risk : Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

    NARCIS (Netherlands)

    Guo, Yan; Warren Andersen, Shaneda; Shu, Xiao-Ou; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Garcia-Closas, Montserrat; Milne, Roger L; Schmidt, Marjanka K; Chang-Claude, Jenny; Dunning, Allison; Bojesen, Stig E; Ahsan, Habibul; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Bogdanova, Natalia V; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brand, Judith; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Casey, Graham; Chenevix-Trench, Georgia; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Dumont, Martine; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gammon, Marilie; Giles, Graham G; Guénel, Pascal; Haiman, Christopher A; Hamann, Ute; Hooning, Maartje J; Hopper, John L; Jakubowska, Anna; Jasmine, Farzana; Jenkins, Mark; John, Esther M; Johnson, Nichola; Jones, Michael E; Kabisch, Maria; Kibriya, Muhammad; Knight, Julia A; Koppert, Linetta B; Kosma, Veli-Matti; Kristensen, Vessela; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lindblom, Annika; Luben, Robert; Lubinski, Jan; Malone, Kathi E; Mannermaa, Arto; Margolin, Sara; Marme, Frederik; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Olson, Janet E; Perez, Jose I A; Perkins, Barbara; Peterlongo, Paolo; Phillips, Kelly-Anne; Pylkäs, Katri; Rudolph, Anja; Santella, Regina; Sawyer, Elinor J; Schmutzler, Rita K; Seynaeve, Caroline; Shah, Mitul; Shrubsole, Martha J; Southey, Melissa C; Swerdlow, Anthony J; Toland, Amanda E; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Ursin, Giske; Van Der Luijt, Rob B; Verhoef, Senno; Whittemore, Alice S; Winqvist, Robert; Zhao, Hui; Zhao, Shilin; Hall, Per; Simard, Jacques; Kraft, Peter; Pharoah, Paul; Hunter, David; Easton, Douglas F; Zheng, Wei

    BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or

  7. Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel

    NARCIS (Netherlands)

    Ference, Brian A.; Ginsberg, Henry N.; Graham, Ian; Ray, Kausik K.; Packard, Chris J.; Bruckert, Eric; Hegele, Robert A.; Krauss, Ronald M.; Raal, Frederick J.; Schunkert, Heribert; Watts, Gerald F.; Boren, Jan; Fazio, Sergio; Horton, Jay D.; Masana, Luis; Nicholls, Stephen J.; Nordestgaard, Borge G.; van de Sluis, Bart; Taskinen, Marja-Riitta; Tokgozoglu, Lale; Landmesser, Ulf; Laufs, Ulrich; Wiklund, Olov; Stock, Jane K.; Chapman, M. John; Catapano, Alberico L.

    2017-01-01

    Aims: To appraise the clinical and genetic evidence that low-density lipoproteins (LDLs) cause atherosclerotic cardiovascular disease (ASCVD). Methods and results: We assessed whether the association between LDL and ASCVD fulfils the criteria for causality by evaluating the totality of evidence from

  8. European Whiteness?

    DEFF Research Database (Denmark)

    Blaagaard, Bolette

    2008-01-01

    Born out of the United States’ (U.S.) history of slavery and segregation and intertwined with gender studies and feminism, the field of critical whiteness studies does not fit easily into a European setting and the particular historical context that entails. In order for a field of European...... critical whiteness studies to emerge, its relation to the U.S. theoretical framework, as well as the particularities of the European context need to be taken into account.. The article makes a call for a multi-layered approach to take over from the identity politics so often employed in the fields of U...

  9. Genetic parameters for litter size, piglet growth and sow's early growth and body composition in the Chinese-European line Tai Zumu.

    Science.gov (United States)

    Banville, M; Riquet, J; Bahon, D; Sourdioux, M; Canario, L

    2015-08-01

    Genetics of piglet growth in association with sow's early growth and body composition were estimated in the Tai Zumu line. Piglet and sow's litter growth traits were calculated from individual weights collected at birth and at 3 weeks of age. Sow's litter traits included the number of piglets born alive (NBA), the mean piglet weight (MW) and the standard deviation of weights within the litter (SDW). Sow's early growth was measured by the age at 100 kg (A100), and body composition included backfat thickness (BF100). A main objective of this study was to estimate separately the direct genetic effect (d) and the maternal genetic effect (m) on piglet weight and daily weight gain during lactation. Variance components were estimated using the restricted maximum likelihood methodology based on animal models. The heritability estimates were 0.19 for NBA, 0.15 and 0.26 for SDW and MW at 3 weeks and 0.42 and 0.70 for A100 and BF100. The NBA was almost independent from SDW. Conversely, the A100 and BF100 were correlated unfavourably with SDW (rg piglet weight at birth and daily weight gain accounted for 12% (h(²) (d) = 0.02) and 50% (h(²) (d) = 0.11) of the genetic variance, respectively. The association between d and m for piglet weight was not different from zero at birth (rg = 0.19, SE = 0.27), but a strong antagonism between d and m for daily weight gain from birth to 3 weeks was found (rg = -0.41, SE = 0.17). Substantial direct and maternal genetic effects influenced piglet growth until weaning in opposite way. © 2014 Blackwell Verlag GmbH.

  10. Meeting in mathematics

    DEFF Research Database (Denmark)

    Mogensen, Arne; Georgiev, Vladimir; Ulovec, Andreas

    To encourage many more young people to appreciate the real nature and spirit of mathematics and possibly to be enrolled in mathematics study it is important to involve them in doing mathematics (not just learning about mathematics). This goal could be achieved if mathematics teachers are prepared...... to identify and work with mathematically gifted students (without loosing the rest). The book offers chapters on gifted students, mathematical competences and other issues....

  11. Impacts of environmental stress on genetic structures of forest tree stands as exemplified by European beech (Fagus sylvatica L.); Auswirkungen von Umweltbelastungen auf genetische Strukturen von Waldbestaenden am Beispiel der Buche (Fagus sylvatica L.)

    Energy Technology Data Exchange (ETDEWEB)

    Mueller-Starck, G. [Goettingen Univ. (Germany). Inst. fuer Forstgenetik und Forstpflanzenzuechtung, Forstliche Biometrie und Informatik

    1993-12-31

    Inheritance of isoenzymes in European beech was verified by means of analysis of segregations among full-sib families. 42 alleles were shown to be controlled genetically by a total of 17 polymorphic gene loci. In six adult stands, genetic structures between tolerant and sensitive subsets were compared (574 individuals). Furthermore, in order to study the dynamics of genetic variation, genetic structures were compared between germinating seeds (initial populations) and survivors at the age of two years under various field stress conditions (2986 individuals). The following tendencies are evident: (1) Genetic structures deviate significantly between tolerant and sensitive subsets in adult stands and between initial populations and juvenile survivors. (2) In adult stands, tolerant subsets reveal greater observed heterozygosities than sensitive subsets (surplus of 23.1%). (3) Among juvenile survivors, severe losses of genetic multiplicity can be expected (at least 17% of alleles). (4) Much greater gene pool diversity is indicated in tolerant subsets as compared to sensitive ones (trends to greater evenness of frequency distributions). (5) In the expression of viability characters, additive allelic effects are suggested in adult stands, but the genetic background is complex in heterogeneous environments. (6) In juvenile survivors, genetic selection is clearly indicated. Environmental stress affects genetic structures of beech populations in many different ways. It is concluded that long term exposure to complex field stress results in a viability advantage for genetically diverse populations and individuals. In juvenile stages, certain alleles may account for superior viabilities, but this phenomenon does not seem to hold for succeeding life stages. In such environments, genetically heterogeneous populations are strongly suggested. (orig./UWa) [Deutsch] Ziel der Untersuchungen war die Ueberpruefung genetischer Auswirkungen von Umweltstress auf Altbestaende und

  12. Present, past and future of the European rock fern Asplenium fontanum: combining distribution modelling and population genetics to study the effect of climate change on geographic range and genetic diversity.

    Science.gov (United States)

    Bystriakova, Nadia; Ansell, Stephen W; Russell, Stephen J; Grundmann, Michael; Vogel, Johannes C; Schneider, Harald

    2014-02-01

    Climate change is expected to alter the geographic range of many plant species dramatically. Predicting this response will be critical to managing the conservation of plant resources and the effects of invasive species. The aim of this study was to predict the response of temperate homosporous ferns to climate change. Genetic diversity and changes in distribution range were inferred for the diploid rock fern Asplenium fontanum along a South-North transect, extending from its putative last glacial maximum (LGM) refugia in southern France towards southern Germany and eastern-central France. This study reconciles observations from distribution models and phylogeographic analyses derived from plastid and nuclear diversity. Genetic diversity distribution and niche modelling propose that genetic diversity accumulates in the LGM climate refugium in southern France with the formation of a diversity gradient reflecting a slow, post-LGM range expansion towards the current distribution range. Evidence supports the fern's preference for outcrossing, contradicting the expectation that homosporous ferns would populate new sites by single-spore colonization. Prediction of climate and distribution range change suggests that a dramatic loss of range and genetic diversity in this fern is possible. The observed migration is best described by the phalanx expansion model. The results suggest that homosporous ferns reproducing preferentially by outcrossing accumulate genetic diversity primarily in LGM climate refugia and may be threatened if these areas disappear due to global climate change.

  13. European Security

    DEFF Research Database (Denmark)

    Møller, Bjørn

    Theoretical chapters on "Security", "Organisations" and "Regions," Historical Chapters on "Europe and Its Distinguishing Features" and on "The United Nations," "NATO," "The CSCE/OSCE and the Council of Europe" and "The European Union"......Theoretical chapters on "Security", "Organisations" and "Regions," Historical Chapters on "Europe and Its Distinguishing Features" and on "The United Nations," "NATO," "The CSCE/OSCE and the Council of Europe" and "The European Union"...

  14. Cell-Based Veterinary Pharmaceuticals – Basic Legal Parameters Set by the Veterinary Pharmaceutical Law and the Genetic Engineering Law of the European Union

    Science.gov (United States)

    Faltus, Timo; Brehm, Walter

    2016-01-01

    Cell-based therapies have been in use in veterinary medicine for years. However, the legal requirement of manufacturing, placing on the market and use of cell-based veterinary pharmaceuticals are not as well developed as the respective requirements of chemical pharmaceuticals. Cell-based veterinary pharmaceuticals are medicinal products in the sense of the pharmaceutical law of the European Union (EU). For that reason, such medicinal products principally require official approval for their manufacture and an official marketing authorization for their placement on the market before being used by the veterinarian. The manufacture, placing on the market, and use of cell-based veterinary pharmaceuticals without manufacturing approval and marketing authorization is permitted only in certain exceptional cases determined by EU and individual Member State law. Violations of this requirement may have consequences for the respective veterinarian under criminal law and under the code of professional conduct in the respective Member State. The regular use of cell-based veterinary pharmaceuticals within the scope of a therapeutic emergency as well as the import of such veterinary pharmaceuticals from non-European countries for use in the EU are currently out of the question in the EU because of a lack of legal bases. Here, we review the general legal requirement of manufacturing, placing on the market, and use of cell-based veterinary pharmaceuticals within the EU and point out different implementations of EU law within the different Member States. PMID:27965965

  15. Cell-Based Veterinary Pharmaceuticals - Basic Legal Parameters Set by the Veterinary Pharmaceutical Law and the Genetic Engineering Law of the European Union.

    Science.gov (United States)

    Faltus, Timo; Brehm, Walter

    2016-01-01

    Cell-based therapies have been in use in veterinary medicine for years. However, the legal requirement of manufacturing, placing on the market and use of cell-based veterinary pharmaceuticals are not as well developed as the respective requirements of chemical pharmaceuticals. Cell-based veterinary pharmaceuticals are medicinal products in the sense of the pharmaceutical law of the European Union (EU). For that reason, such medicinal products principally require official approval for their manufacture and an official marketing authorization for their placement on the market before being used by the veterinarian. The manufacture, placing on the market, and use of cell-based veterinary pharmaceuticals without manufacturing approval and marketing authorization is permitted only in certain exceptional cases determined by EU and individual Member State law. Violations of this requirement may have consequences for the respective veterinarian under criminal law and under the code of professional conduct in the respective Member State. The regular use of cell-based veterinary pharmaceuticals within the scope of a therapeutic emergency as well as the import of such veterinary pharmaceuticals from non-European countries for use in the EU are currently out of the question in the EU because of a lack of legal bases. Here, we review the general legal requirement of manufacturing, placing on the market, and use of cell-based veterinary pharmaceuticals within the EU and point out different implementations of EU law within the different Member States.

  16. Mathematical models in biology bringing mathematics to life

    CERN Document Server

    Ferraro, Maria; Guarracino, Mario

    2015-01-01

    This book presents an exciting collection of contributions based on the workshop “Bringing Maths to Life” held October 27-29, 2014 in Naples, Italy.  The state-of-the art research in biology and the statistical and analytical challenges facing huge masses of data collection are treated in this Work. Specific topics explored in depth surround the sessions and special invited sessions of the workshop and include genetic variability via differential expression, molecular dynamics and modeling, complex biological systems viewed from quantitative models, and microscopy images processing, to name several. In depth discussions of the mathematical analysis required to extract insights from complex bodies of biological datasets, to aid development in the field novel algorithms, methods and software tools for genetic variability, molecular dynamics, and complex biological systems are presented in this book. Researchers and graduate students in biology, life science, and mathematics/statistics will find the content...

  17. Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent.

    Directory of Open Access Journals (Sweden)

    Yan Guo

    2016-08-01

    Full Text Available Observational epidemiological studies have shown that high body mass index (BMI is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or environmental factors.We applied Mendelian randomization to evaluate the association between BMI and risk of breast cancer occurrence using data from two large breast cancer consortia. We created a weighted BMI genetic score comprising 84 BMI-associated genetic variants to predicted BMI. We evaluated genetically predicted BMI in association with breast cancer risk using individual-level data from the Breast Cancer Association Consortium (BCAC (cases  =  46,325, controls  =  42,482. We further evaluated the association between genetically predicted BMI and breast cancer risk using summary statistics from 16,003 cases and 41,335 controls from the Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE Project. Because most studies measured BMI after cancer diagnosis, we could not conduct a parallel analysis to adequately evaluate the association of measured BMI with breast cancer risk prospectively.In the BCAC data, genetically predicted BMI was found to be inversely associated with breast cancer risk (odds ratio [OR]  =  0.65 per 5 kg/m2 increase, 95% confidence interval [CI]: 0.56-0.75, p = 3.32 × 10-10. The associations were similar for both premenopausal (OR   =   0.44, 95% CI:0.31-0.62, p  =  9.91 × 10-8 and postmenopausal breast cancer (OR  =  0.57, 95% CI: 0.46-0.71, p  =  1.88 × 10-8. This association was replicated in the data from the DRIVE consortium (OR  =  0.72, 95% CI: 0.60-0.84, p   =   1.64 × 10-7. Single marker analyses identified 17 of the 84 BMI-associated single nucleotide polymorphisms (SNPs in association with breast cancer risk at p < 0.05; for 16 of them, the

  18. Misoprostol-induced fever and genetic polymorphisms in drug transporters SLCO1B1 and ABCC4 in women of Latin American and European ancestry.

    Science.gov (United States)

    Alfirevic, Ana; Durocher, Jill; Elati, Anisa; León, Wilfrido; Dickens, David; Rädisch, Steffen; Box, Helen; Siccardi, Marco; Curley, Paul; Xinarianos, George; Ardeshana, Arjun; Owen, Andrew; Zhang, J Eunice; Pirmohamed, Munir; Alfirevic, Zarko; Weeks, Andrew; Winikoff, Beverly

    2015-01-01

    Misoprostol, a prostaglandin analogue used for the treatment of postpartum hemorrhage and termination of pregnancy, can cause high fevers. Genetic susceptibility may play a role in misoprostol-induced fever. Body temperature of women treated with misoprostol for termination of pregnancy in the UK (n = 107) and for postpartum hemorrhage in Ecuador (n = 50) was measured. Genotyping for 33 single nucleotide polymorphisms in 15 candidate genes was performed. Additionally, we investigated the transport of radiolabeled misoprostol acid across biological membranes in vitro. The ABCC4 single nucleotide polymorphism rs11568658 was associated with misoprostol-induced fever. Misoprostol acid was transported across a blood-brain barrier model by MRP4 and SLCO1B1. Genetic variability in ABCC4 may contribute to misoprostol-induced fever in pregnant women. Original submitted 21 January 2015; Revision submitted 24 April 2015.

  19. Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

    Science.gov (United States)

    Guo, Yan; Warren Andersen, Shaneda; Shu, Xiao-Ou; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Garcia-Closas, Montserrat; Milne, Roger L.; Schmidt, Marjanka K.; Chang-Claude, Jenny; Dunning, Allison; Bojesen, Stig E.; Ahsan, Habibul; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Beckmann, Matthias W.; Beeghly-Fadiel, Alicia; Benitez, Javier; Bogdanova, Natalia V.; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brand, Judith; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Casey, Graham; Chenevix-Trench, Georgia; Couch, Fergus J.; Cross, Simon S.; Czene, Kamila; Dörk, Thilo; Dumont, Martine; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gammon, Marilie; Giles, Graham G.; Guénel, Pascal; Haiman, Christopher A.; Hamann, Ute; Hooning, Maartje J.; Hopper, John L.; Jakubowska, Anna; Jasmine, Farzana; Jenkins, Mark; John, Esther M.; Johnson, Nichola; Jones, Michael E.; Kabisch, Maria; Knight, Julia A.; Koppert, Linetta B.; Kosma, Veli-Matti; Kristensen, Vessela; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lindblom, Annika; Lubinski, Jan; Malone, Kathi E.; Mannermaa, Arto; Margolin, Sara; McLean, Catriona; Meindl, Alfons; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Olson, Janet E.; Perez, Jose I. A.; Perkins, Barbara; Phillips, Kelly-Anne; Pylkäs, Katri; Rudolph, Anja; Santella, Regina; Sawyer, Elinor J.; Schmutzler, Rita K.; Seynaeve, Caroline; Shah, Mitul; Shrubsole, Martha J.; Southey, Melissa C.; Swerdlow, Anthony J.; Toland, Amanda E.; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Ursin, Giske; Van Der Luijt, Rob B.; Verhoef, Senno; Whittemore, Alice S.; Winqvist, Robert; Zhao, Hui; Zhao, Shilin; Hall, Per; Simard, Jacques; Kraft, Peter; Hunter, David; Easton, Douglas F.; Zheng, Wei

    2016-01-01

    Background Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or environmental factors. Methods We applied Mendelian randomization to evaluate the association between BMI and risk of breast cancer occurrence using data from two large breast cancer consortia. We created a weighted BMI genetic score comprising 84 BMI-associated genetic variants to predicted BMI. We evaluated genetically predicted BMI in association with breast cancer risk using individual-level data from the Breast Cancer Association Consortium (BCAC) (cases  =  46,325, controls  =  42,482). We further evaluated the association between genetically predicted BMI and breast cancer risk using summary statistics from 16,003 cases and 41,335 controls from the Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) Project. Because most studies measured BMI after cancer diagnosis, we could not conduct a parallel analysis to adequately evaluate the association of measured BMI with breast cancer risk prospectively. Results In the BCAC data, genetically predicted BMI was found to be inversely associated with breast cancer risk (odds ratio [OR]  =  0.65 per 5 kg/m2 increase, 95% confidence interval [CI]: 0.56–0.75, p = 3.32 × 10−10). The associations were similar for both premenopausal (OR   =   0.44, 95% CI:0.31–0.62, p  =  9.91 × 10−8) and postmenopausal breast cancer (OR  =  0.57, 95% CI: 0.46–0.71, p  =  1.88 × 10−8). This association was replicated in the data from the DRIVE consortium (OR  =  0.72, 95% CI: 0.60–0.84, p   =   1.64 × 10−7). Single marker analyses identified 17 of the 84 BMI-associated single nucleotide polymorphisms (SNPs) in association with breast cancer risk at p

  20. Authenticity of Mathematical Modeling

    Science.gov (United States)

    Tran, Dung; Dougherty, Barbara J.

    2014-01-01

    Some students leave high school never quite sure of the relevancy of the mathematics they have learned. They fail to see links between school mathematics and the mathematics of everyday life that requires thoughtful decision making and often complex problem solving. Is it possible to bridge the gap between school mathematics and the mathematics in…

  1. Connecting Science with Mathematics: Thinking Outside the Toolbox

    Science.gov (United States)

    Wake, Geoff; Newton, Len

    2014-01-01

    Our view of learning takes into account how learners, when learning, are engaged in both doing science and mathematics and becoming mathematicians and scientists. Drawing on our work on a number of European projects that developed inquiry approaches across mathematics and science, we propose a new research and development agenda seeking new ways…

  2. Mathematics education as a network of social practices

    DEFF Research Database (Denmark)

    Valero, Paola

    2010-01-01

    Based on an analysis of mathematics education research as an academic field and on current social, political and economic transformations in many European countries, I would argue for the need to rethink and enlarge definitions and views of mathematics education as a scientific field of study in ...

  3. Solving a mathematical model integrating unequal-area facilities layout and part scheduling in a cellular manufacturing system by a genetic algorithm.

    Science.gov (United States)

    Ebrahimi, Ahmad; Kia, Reza; Komijan, Alireza Rashidi

    2016-01-01

    In this article, a novel integrated mixed-integer nonlinear programming model is presented for designing a cellular manufacturing system (CMS) considering machine layout and part scheduling problems simultaneously as interrelated decisions. The integrated CMS model is formulated to incorporate several design features including part due date, material handling time, operation sequence, processing time, an intra-cell layout of unequal-area facilities, and part scheduling. The objective function is to minimize makespan, tardiness penalties, and material handling costs of inter-cell and intra-cell movements. Two numerical examples are solved by the Lingo software to illustrate the results obtained by the incorporated features. In order to assess the effects and importance of integration of machine layout and part scheduling in designing a CMS, two approaches, sequentially and concurrent are investigated and the improvement resulted from a concurrent approach is revealed. Also, due to the NP-hardness of the integrated model, an efficient genetic algorithm is designed. As a consequence, computational results of this study indicate that the best solutions found by GA are better than the solutions found by B&B in much less time for both sequential and concurrent approaches. Moreover, the comparisons between the objective function values (OFVs) obtained by sequential and concurrent approaches demonstrate that the OFV improvement is averagely around 17 % by GA and 14 % by B&B.

  4. Mathematical Methods in Survival Analysis, Reliability and Quality of Life

    CERN Document Server

    Huber, Catherine; Mesbah, Mounir

    2008-01-01

    Reliability and survival analysis are important applications of stochastic mathematics (probability, statistics and stochastic processes) that are usually covered separately in spite of the similarity of the involved mathematical theory. This title aims to redress this situation: it includes 21 chapters divided into four parts: Survival analysis, Reliability, Quality of life, and Related topics. Many of these chapters were presented at the European Seminar on Mathematical Methods for Survival Analysis, Reliability and Quality of Life in 2006.

  5. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  6. European visit

    CERN Multimedia

    2006-01-01

    The European Commissioner for Science and Research, Janez Potočnik, (on the right) visited the CMS assembly hall accompanied by Jim Virdee, Deputy Spokesman of CMS (on the left), and Robert Aymar, Director-General of CERN. The European Commissioner for Science and Research, Janez Potočnik, visited CERN on Tuesday 31 January. He was welcomed by the Director-General, Robert Aymar, who described the missions and current activities of CERN to him, in particular the realisation of the LHC with its three components: accelerator, detectors, storage and processing of data. The European Commissioner then visited the CMS assembly hall, then the hall for testing the LHC magnets and the ATLAS cavern. During this first visit since his appointment at the end of 2004, Janez Potočnik appeared very interested by the operation of CERN, an example of successful scientific co-operation on a European scale. The many projects (30 on average) that CERN and the European Commission carry out jointly for the benefit of res...

  7. The Popularisation of Mathematics.

    Science.gov (United States)

    Howson, A. G.; And Others

    1988-01-01

    This article announces a study by the International Commission on Mathematical Instruction (ICMI) concerning the public image of mathematics and mathematicians. Discusses the general frameworks, features, and methods of the popularization of mathematics. (YP)

  8. Figures of thought mathematics and mathematical texts

    CERN Document Server

    Reed, David

    2003-01-01

    Examines the ways in which mathematical works can be read as texts, examines their textual strategiesand demonstrates that such readings provide a rich source of philosophical debate regarding mathematics.

  9. Mathematical Modeling and Optimizing of in Vitro Hormonal Combination for G × N15 Vegetative Rootstock Proliferation Using Artificial Neural Network-Genetic Algorithm (ANN-GA).

    Science.gov (United States)

    Arab, Mohammad M; Yadollahi, Abbas; Ahmadi, Hamed; Eftekhari, Maliheh; Maleki, Masoud

    2017-01-01

    The efficiency of a hybrid systems method which combined artificial neural networks (ANNs) as a modeling tool and genetic algorithms (GAs) as an optimizing method for input variables used in ANN modeling was assessed. Hence, as a new technique, it was applied for the prediction and optimization of the plant hormones concentrations and combinations for in vitro proliferation of Garnem (G × N15) rootstock as a case study. Optimizing hormones combination was surveyed by modeling the effects of various concentrations of cytokinin-auxin, i.e., BAP, KIN, TDZ, IBA, and NAA combinations (inputs) on four growth parameters (outputs), i.e., micro-shoots number per explant, length of micro-shoots, developed callus weight (CW) and the quality index (QI) of plantlets. Calculation of statistical values such as R2 (coefficient of determination) related to the accuracy of ANN-GA models showed a considerably higher prediction accuracy for ANN models, i.e., micro-shoots number: R2 = 0.81, length of micro-shoots: R2 = 0.87, CW: R2 = 0.88, QI: R2 = 0.87. According to the results, among the input variables, BAP (19.3), KIN (9.64), and IBA (2.63) showed the highest values of variable sensitivity ratio for proliferation rate. The GA showed that media containing 1.02 mg/l BAP in combination with 0.098 mg/l IBA could lead to the optimal proliferation rate (10.53) for G × N15 rootstock. Another objective of the present study was to compare the performance of predicted and optimized cytokinin-auxin combination with the best optimized obtained concentrations of our other experiments. Considering three growth parameters (length of micro-shoots, micro-shoots number, and proliferation rate), the last treatment was found to be superior to the rest of treatments for G × N15 rootstock in vitro multiplication. Very little difference between the ANN predicted and experimental data confirmed high capability of ANN-GA method in predicting new optimized protocols for plant in vitro propagation.

  10. Mathematical Modeling and Optimizing of in Vitro Hormonal Combination for G × N15 Vegetative Rootstock Proliferation Using Artificial Neural Network-Genetic Algorithm (ANN-GA

    Directory of Open Access Journals (Sweden)

    Mohammad M. Arab

    2017-11-01

    Full Text Available The efficiency of a hybrid systems method which combined artificial neural networks (ANNs as a modeling tool and genetic algorithms (GAs as an optimizing method for input variables used in ANN modeling was assessed. Hence, as a new technique, it was applied for the prediction and optimization of the plant hormones concentrations and combinations for in vitro proliferation of Garnem (G × N15 rootstock as a case study. Optimizing hormones combination was surveyed by modeling the effects of various concentrations of cytokinin–auxin, i.e., BAP, KIN, TDZ, IBA, and NAA combinations (inputs on four growth parameters (outputs, i.e., micro-shoots number per explant, length of micro-shoots, developed callus weight (CW and the quality index (QI of plantlets. Calculation of statistical values such as R2 (coefficient of determination related to the accuracy of ANN-GA models showed a considerably higher prediction accuracy for ANN models, i.e., micro-shoots number: R2 = 0.81, length of micro-shoots: R2 = 0.87, CW: R2 = 0.88, QI: R2 = 0.87. According to the results, among the input variables, BAP (19.3, KIN (9.64, and IBA (2.63 showed the highest values of variable sensitivity ratio for proliferation rate. The GA showed that media containing 1.02 mg/l BAP in combination with 0.098 mg/l IBA could lead to the optimal proliferation rate (10.53 for G × N15 rootstock. Another objective of the present study was to compare the performance of predicted and optimized cytokinin–auxin combination with the best optimized obtained concentrations of our other experiments. Considering three growth parameters (length of micro-shoots, micro-shoots number, and proliferation rate, the last treatment was found to be superior to the rest of treatments for G × N15 rootstock in vitro multiplication. Very little difference between the ANN predicted and experimental data confirmed high capability of ANN-GA method in predicting new optimized protocols for plant in vitro

  11. Mathematics related anxiety: Mathematics bogeyman or not?

    OpenAIRE

    Videnović, Marina; Radišić, Jelena

    2011-01-01

    Data of the PISA 2003 survey indicate high levels of mathematics anxiety of students in Serbia. More than half of our students worry whether they will have difficulties in mathematics class or whether they will earn poor marks. Aims of this study therefore are: examining relationship between math anxiety and achievement at mathematics literacy scale; establishing possible predictors of math anxiety and identification of students' groups in relations to their relationship towards mathematics a...

  12. Wide variation in spatial genetic structure between natural populations of the European beech (Fagus sylvatica) and its implications for SGS comparability.

    Science.gov (United States)

    Jump, A S; Rico, L; Coll, M; Peñuelas, J

    2012-06-01

    Identification and quantification of spatial genetic structure (SGS) within populations remains a central element of understanding population structure at the local scale. Understanding such structure can inform on aspects of the species' biology, such as establishment patterns and gene dispersal distance, in addition to sampling design for genetic resource management and conservation. However, recent work has identified that variation in factors such as sampling methodology, population characteristics and marker system can all lead to significant variation in SGS estimates. Consequently, the extent to which estimates of SGS can be relied on to inform on the biology of a species or differentiate between experimental treatments is open to doubt. Following on from a recent report of unusually extensive SGS when assessed using amplified fragment length polymorphisms in the tree Fagus sylvatica, we explored whether this marker system led to similarly high estimates of SGS extent in other apparently similar populations of this species. In the three populations assessed, SGS extent was even stronger than this previously reported maximum, extending up to 360 m, an increase in up to 800% in comparison with the generally accepted maximum of 30-40 m based on the literature. Within this species, wide variation in SGS estimates exists, whether quantified as SGS intensity, extent or the Sp parameter. Consequently, we argue that greater standardization should be applied in sample design and SGS estimation and highlight five steps that can be taken to maximize the comparability between SGS estimates.

  13. Introducing philosophy of mathematics

    CERN Document Server

    Friend, Michele

    2014-01-01

    What is mathematics about? Does the subject-matter of mathematics exist independently of the mind or are they mental constructions? How do we know mathematics? Is mathematical knowledge logical knowledge? And how is mathematics applied to the material world? In this introduction to the philosophy of mathematics, Michele Friend examines these and other ontological and epistemological problems raised by the content and practice of mathematics. Aimed at a readership with limited proficiency in mathematics but with some experience of formal logic it seeks to strike a balance between conceptual acc

  14. Tutorials in mathematical biosciences

    CERN Document Server

    2008-01-01

    The book offers an easy introduction to fast growing research areas in evolution of species, population genetics, ecological models, and population dynamics. The first two chapters review the concept and methodologies of phylogenetic trees; computational schemes and illustrations are given, including applications such as tracing the origin of SARS and influenza. The third chapter introduces the reader to ecological models, including predator-prey models. This chapter includes and introduction to reaction-diffusion equations, which are used to analyze the ecological models. The next chapter reviews a broad range of ongoing research in population dynamics, including evolution of dispersal models; it also features interesting mathematical theorems and lists open problems. The final chapter deals with gene frequencies under the action of migration and selection. The book is addressed to readers at the level of grad students and researchers. A background in PDEs is provided.

  15. Topics in mathematical biology

    CERN Document Server

    Hadeler, Karl Peter

    2017-01-01

    This book analyzes the impact of quiescent phases on biological models. Quiescence arises, for example, when moving individuals stop moving, hunting predators take a rest, infected individuals are isolated, or cells enter the quiescent compartment of the cell cycle. In the first chapter of Topics in Mathematical Biology general principles about coupled and quiescent systems are derived, including results on shrinking periodic orbits and stabilization of oscillations via quiescence. In subsequent chapters classical biological models are presented in detail and challenged by the introduction of quiescence. These models include delay equations, demographic models, age structured models, Lotka-Volterra systems, replicator systems, genetic models, game theory, Nash equilibria, evolutionary stable strategies, ecological models, epidemiological models, random walks and reaction-diffusion models. In each case we find new and interesting results such as stability of fixed points and/or periodic orbits, excitability...

  16. Mathematics for Life: Sustainable Mathematics Education

    Science.gov (United States)

    Renert, Moshe

    2011-01-01

    Ecological sustainability has not been a major focus of mathematics education research, even though it has attracted considerable attention in other areas of educational research in the past decade. The connections between mathematics education and ecological sustainability are not readily apparent. This paper explores how mathematics educators…

  17. Discrete Mathematics and the Secondary Mathematics Curriculum.

    Science.gov (United States)

    Dossey, John

    Discrete mathematics, the mathematics of decision making for finite settings, is a topic of great interest in mathematics education at all levels. Attention is being focused on resolving the diversity of opinion concerning the exact nature of the subject, what content the curriculum should contain, who should study that material, and how that…

  18. Mathematical Story: A Metaphor for Mathematics Curriculum

    Science.gov (United States)

    Dietiker, Leslie

    2015-01-01

    This paper proposes a theoretical framework for interpreting the content found in mathematics curriculum in order to offer teachers and other mathematics educators comprehensive conceptual tools with which to make curricular decisions. More specifically, it describes a metaphor of "mathematics curriculum as story" and defines and…

  19. Mathematical Modelling Approach in Mathematics Education

    Science.gov (United States)

    Arseven, Ayla

    2015-01-01

    The topic of models and modeling has come to be important for science and mathematics education in recent years. The topic of "Modeling" topic is especially important for examinations such as PISA which is conducted at an international level and measures a student's success in mathematics. Mathematical modeling can be defined as using…

  20. Progress in Industrial Mathematics at ECMI 2000

    CERN Document Server

    Capasso, Vincenzo; Greco, Antonio

    2002-01-01

    The European Consortium for Mathematics in Industry (ECMI) was founded in 1986 by leading groups of mathematicians in Europe for the following scopes: i) direct involvement of mathematicians in R&D activities; ii) international cooperation at a European scale; iii) education of industrial mathematicians to meet the growing demand for such experts. ECMI 2000 shows that ECMI has offered a unique example of effective international cooperation thanks to the financial support of the European Framework programmes. In particular they have helped ECMI establishing a set of Special Interest Groups to favour interaction with industry . This volume includes minisymposia about their activities, in particular microelectronics, glass, polymers, finance, traffic, and textiles. Applied mathematicians and other professionals working in academia or industry will find the book to be a useful and stimulating source of mathematical applications related to industrial problems.

  1. Modeling and Treatment Applicable in the Establishment of the Necessary Variables for Testing the Mathematical Model Regarding the Contribution of the Amortization Method to The Estimation of the Cash Flows from the Use of Fixed Assets – Case Study Applied to the Groups of Societies within the European Space

    Directory of Open Access Journals (Sweden)

    Marinela - Daniela MANEA

    2012-11-01

    Full Text Available The paper sets out to tackle with the problem of modeling the variables necessary for testing the suggested mathematical model – the net cash flows from using the tangible fixed assets for the year of analysis, the discount rate of the future cash flows, respectively the annual and cumulative amortization. In our attempt to prove that, starting from a given set of rules regarding amortization and complying with the considerations of the American implicit interest depreciation method, we can obtain a model through which the net cash flow from exploitation of an asset/group of assets can be expressed according to measure of the annual amortization, we considered it necessary to gradually present the successive steps of modeling the above mentioned aggregates in the practice of the societies within the European area. Likewise, there have been mentioned the limitations encountered in our research process in the set of annual financial situations of the groups of societies within the European area connected to the measurement of the above mentioned variables.

  2. Biotechnology and the European public

    NARCIS (Netherlands)

    Gaskell, George; Allum, Nick; Bauer, Martin; Durant, John; Allansdottir, Agnes; Bonfadelli, Heinz; Boy, Daniel; de Cheveigne, Suzanne; Fjaestad, Bjorn; Gutteling, Jan M.; Hampel, Juergen; Jelsoe, Erling; Correia Jesuino, Jorge; Kohring, Matthias; Kronberger, Nicole; Midden, Cees; Hviid Nielsen, Torben; Przestalski, Andrzej; Rusanen, Timo; Sakellaris, George; Torgersen, Helge; Twardowski, Tomasz; Wagner, Wolfgang

    2000-01-01

    The latest European sample survey of public perceptions of biotechnology reveals widespread opposition to genetically modified (GM) food in much of Europe, but public attitudes to medical and environmental applications remain positive. Data from the fourth Eurobarometer survey carried out in

  3. Structure and genetic mechanisms of the Precambrian rifts of the East-European Platform in Russia by integrated study of seismic, gravity, and magnetic data

    Science.gov (United States)

    Kostyuchenko, S. L.; Egorkin, A. V.; Solodilov, L. N.

    1999-11-01

    Integrated models of the deep structure and origin of rifts located within the Russian portion of the East-European Platform have been developed from recent DSS results, new gravity and magnetic modelling, and geological and older geophysical data acquired over the last 50 years. The Mezen rift province, the Middle-Russian rift, the Valday rift, the Pachelma rift, and the rifts within the Pre-Caspian depression were studied. All of these rifts were affected by extension and filled with syn-rift sediments at different times through the Riphean (1650-650 Ma). Post-rift sedimentary basins developed from the end of the Neoproterozoic until the Cenozoic. The models indicate that the crustal structure and genesis of the individual rifts are different. The Mezen rift province was formed under a condition of limited extension of the continental crust. The McKenzie pure strain mechanism is acceptable for lithosphere extension in the Middle-Russian rift. The Wernicke model best expresses the Valday and Pachelma rifts. The rift process in the Pre-Caspian area is explained in terms of large-scale sliding apart of lithospheric plates, and approached the stage of development of oceanic crust.

  4. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

    Science.gov (United States)

    Jiang, Xia; O'Reilly, Paul F; Aschard, Hugues; Hsu, Yi-Hsiang; Richards, J Brent; Dupuis, Josée; Ingelsson, Erik; Karasik, David; Pilz, Stefan; Berry, Diane; Kestenbaum, Bryan; Zheng, Jusheng; Luan, Jianan; Sofianopoulou, Eleni; Streeten, Elizabeth A; Albanes, Demetrius; Lutsey, Pamela L; Yao, Lu; Tang, Weihong; Econs, Michael J; Wallaschofski, Henri; Völzke, Henry; Zhou, Ang; Power, Chris; McCarthy, Mark I; Michos, Erin D; Boerwinkle, Eric; Weinstein, Stephanie J; Freedman, Neal D; Huang, Wen-Yi; Van Schoor, Natasja M; van der Velde, Nathalie; Groot, Lisette C P G M de; Enneman, Anke; Cupples, L Adrienne; Booth, Sarah L; Vasan, Ramachandran S; Liu, Ching-Ti; Zhou, Yanhua; Ripatti, Samuli; Ohlsson, Claes; Vandenput, Liesbeth; Lorentzon, Mattias; Eriksson, Johan G; Shea, M Kyla; Houston, Denise K; Kritchevsky, Stephen B; Liu, Yongmei; Lohman, Kurt K; Ferrucci, Luigi; Peacock, Munro; Gieger, Christian; Beekman, Marian; Slagboom, Eline; Deelen, Joris; Heemst, Diana van; Kleber, Marcus E; März, Winfried; de Boer, Ian H; Wood, Alexis C; Rotter, Jerome I; Rich, Stephen S; Robinson-Cohen, Cassianne; den Heijer, Martin; Jarvelin, Marjo-Riitta; Cavadino, Alana; Joshi, Peter K; Wilson, James F; Hayward, Caroline; Lind, Lars; Michaëlsson, Karl; Trompet, Stella; Zillikens, M Carola; Uitterlinden, Andre G; Rivadeneira, Fernando; Broer, Linda; Zgaga, Lina; Campbell, Harry; Theodoratou, Evropi; Farrington, Susan M; Timofeeva, Maria; Dunlop, Malcolm G; Valdes, Ana M; Tikkanen, Emmi; Lehtimäki, Terho; Lyytikäinen, Leo-Pekka; Kähönen, Mika; Raitakari, Olli T; Mikkilä, Vera; Ikram, M Arfan; Sattar, Naveed; Jukema, J Wouter; Wareham, Nicholas J; Langenberg, Claudia; Forouhi, Nita G; Gundersen, Thomas E; Khaw, Kay-Tee; Butterworth, Adam S; Danesh, John; Spector, Timothy; Wang, Thomas J; Hyppönen, Elina; Kraft, Peter; Kiel, Douglas P

    2018-01-17

    Vitamin D is a steroid hormone precursor that is associated with a range of human traits and diseases. Previous GWAS of serum 25-hydroxyvitamin D concentrations have identified four genome-wide significant loci (GC, NADSYN1/DHCR7, CYP2R1, CYP24A1). In this study, we expand the previous SUNLIGHT Consortium GWAS discovery sample size from 16,125 to 79,366 (all European descent). This larger GWAS yields two additional loci harboring genome-wide significant variants (P = 4.7×10-9 at rs8018720 in SEC23A, and P = 1.9×10-14 at rs10745742 in AMDHD1). The overall estimate of heritability of 25-hydroxyvitamin D serum concentrations attributable to GWAS common SNPs is 7.5%, with statistically significant loci explaining 38% of this total. Further investigation identifies signal enrichment in immune and hematopoietic tissues, and clustering with autoimmune diseases in cell-type-specific analysis. Larger studies are required to identify additional common SNPs, and to explore the role of rare or structural variants and gene-gene interactions in the heritability of circulating 25-hydroxyvitamin D levels.

  5. Genetic consequences of population decline in the European otter ( Lutra lutra ) : an assessment of microsatellite DNA variation in Danish otters from 1883 to 1993

    DEFF Research Database (Denmark)

    Pertoldi, C.; Hansen, Michael Møller; Loeschcke, V.

    2001-01-01

    into the dynamics of the population decline. This was done by analysing microsatellite DNA variation in contemporary and historical samples, the latter encompassing DNA samples extracted from museum specimens covering a time-span from the 1880s to the 1960s. Tests for differences in expected heterozygosity...... and the numbers of alleles in contemporary versus historical samples and a test for detecting population bottlenecks provided few indications of a recent bottleneck and loss of variability. However, a procedure for detecting population expansions and declines, based on the genealogical history of microsatellite...... alleles, suggested that a drastic long-term population decline has taken place, which could have started more than 2000 years ago, possibly due to ancient anthropogenic pressure. Finally, assignment tests and pairwise F-ST values suggested weak but statistically significant genetic differentiation between...

  6. FELASA guidelines for the refinement of methods for genotyping genetically-modified rodents: a report of the Federation of European Laboratory Animal Science Associations Working Group.

    Science.gov (United States)

    Bonaparte, Dolores; Cinelli, Paolo; Douni, Eleni; Hérault, Yann; Maas, Maas; Pakarinen, Pirjo; Poutanen, Matti; Lafuente, Mirentxu Santos; Scavizzi, Ferdinando

    2013-07-01

    The use of genetically-modified (GM) animals as research models continues to grow. The completion of the mouse genome sequence, together with the high-throughput international effort to introduce mutations across the mouse genome in the embryonic stem (ES) cells (www.knockoutmouse.org) facilitates an efficient way to obtain mutated mouse strains as research models. The increasing number of available mutated mouses trains and their combinations, together with the increasing complexity in the targeting approaches used,reinforces the need for guidelines that will provide information about the mouse strains and the robust and reliable methods used for their genotyping. This information, however, should be obtained with a method causing minimal discomfort to the experimental animals. We have, therefore, compiled the present document which summarizes the currently available methods for obtaining genotype information. It provides updated guidelines concerning animal identification, DNA sampling and genotyping, and the information to be kept and distributed for any mutated rodent strain.

  7. European Cinema

    NARCIS (Netherlands)

    Elsaesser, Thomas

    2005-01-01

    In the face of renewed competition from Hollywood since the early 1980s and the challenges posed to Europe's national cinemas by the fall of the Wall in 1989, independent filmmaking in Europe has begun to re-invent itself. European Cinema: Face to Face with Hollywood re-assesses the different

  8. Relationship between polycystic ovary syndrome and ancestry in European Americans.

    Science.gov (United States)

    Bjonnes, Andrew C; Saxena, Richa; Welt, Corrine K

    2016-12-01

    To determine whether European Americans with polycystic ovary syndrome (PCOS) exhibit genetic differences associated with PCOS status and phenotypic features. Case-control association study in European Americans. Academic center. Women with PCOS diagnosed with the use of the National Institutes of Health criteria (n = 532) and control women with regular menstrual cycles and no evidence of hyperandrogenism (n = 432). Blood was drawn for measurement of sex steroids, metabolic parameters, and genotyping. Associations among PCOS status, phenotype, and genetic background identified with the use of principal component analysis. Principal component analysis identified five principal components (PCs). PC1 captured northwest-to-southeast European genetic variation and was associated with PCOS status. Acanthosis was associated with southern European ancestry, and larger waist:hip ratio was associated with northern European ancestry. PC2 was associated with east-to-west European genetic variation and cholesterol levels. These data provide evidence for genetic influence based on European ethnicity in women with PCOS. There is also evidence for a genetic component in the phenotypic features of PCOS within a mixed European population. The data point to the need to control for population stratification in genetic studies in women of mixed European ethnicity. They also emphasize the need for better studies of PCOS prevalence and phenotype as a function of genetic background. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  9. Mathematics related anxiety: Mathematics bogeyman or not?

    Directory of Open Access Journals (Sweden)

    Videnović Marina

    2011-01-01

    Full Text Available Data of the PISA 2003 survey indicate high levels of mathematics anxiety of students in Serbia. More than half of our students worry whether they will have difficulties in mathematics class or whether they will earn poor marks. Aims of this study therefore are: examining relationship between math anxiety and achievement at mathematics literacy scale; establishing possible predictors of math anxiety and identification of students' groups in relations to their relationship towards mathematics as a subject. Mathematics anxiety is statistically negatively correlated with school achievement and achievement at mathematics literacy scale. Socio-demographic factors, motivational and cognitive aspects related to learning mathematics, perception of school and classroom climate explain 40% variance of mathematics anxiety. Based on students' relationship towards mathematics they cam be divided into three groups; while dimensions that apart them are uninterested-interested in mathematics and presence-absence of anxiety. The group displaying anxiety scores lowest among the three. Applying qualitative analysis students' and teachers' attitudes on specific issues related to teaching and learning mathematics was examined.

  10. Mathematics anxiety: what have we learned in 60 years?

    Directory of Open Access Journals (Sweden)

    Ann eDowker

    2016-04-01

    Full Text Available The construct of mathematics anxiety has been an important topic of study at least since the concept of 'number anxiety' was introduced by Dreger & Aiken (1957, and has received increasing attention in recent years. This paper focuses on what research has revealed about mathematics anxiety in the last 60 years, and what still remains to be learned. We discuss what mathematics anxiety is; how distinct it is from other forms of anxiety; and how it relates to attitudes to mathematics. We discuss the relationships between mathematics anxiety and mathematics performance. We describe ways in which mathematics anxiety is measured, both by questionnaires, and by physiological measures. We discuss some possible factors in mathematics anxiety, including genetics, gender, age and culture. Finally, we describe some research on treatment. We conclude with a brief discussion of what still needs to be learned.

  11. Mathematics Anxiety: What Have We Learned in 60 Years?

    Science.gov (United States)

    Dowker, Ann; Sarkar, Amar; Looi, Chung Yen

    2016-01-01

    The construct of mathematics anxiety has been an important topic of study at least since the concept of "number anxiety" was introduced by Dreger and Aiken (1957), and has received increasing attention in recent years. This paper focuses on what research has revealed about mathematics anxiety in the last 60 years, and what still remains to be learned. We discuss what mathematics anxiety is; how distinct it is from other forms of anxiety; and how it relates to attitudes to mathematics. We discuss the relationships between mathematics anxiety and mathematics performance. We describe ways in which mathematics anxiety is measured, both by questionnaires, and by physiological measures. We discuss some possible factors in mathematics anxiety, including genetics, gender, age, and culture. Finally, we describe some research on treatment. We conclude with a brief discussion of what still needs to be learned.

  12. Mathematics Anxiety: What Have We Learned in 60 Years?

    Science.gov (United States)

    Dowker, Ann; Sarkar, Amar; Looi, Chung Yen

    2016-01-01

    The construct of mathematics anxiety has been an important topic of study at least since the concept of “number anxiety” was introduced by Dreger and Aiken (1957), and has received increasing attention in recent years. This paper focuses on what research has revealed about mathematics anxiety in the last 60 years, and what still remains to be learned. We discuss what mathematics anxiety is; how distinct it is from other forms of anxiety; and how it relates to attitudes to mathematics. We discuss the relationships between mathematics anxiety and mathematics performance. We describe ways in which mathematics anxiety is measured, both by questionnaires, and by physiological measures. We discuss some possible factors in mathematics anxiety, including genetics, gender, age, and culture. Finally, we describe some research on treatment. We conclude with a brief discussion of what still needs to be learned. PMID:27199789

  13. Genetic variation of the FADS1 FADS2 gene cluster and n-6 PUFA composition in erythrocyte membranes in the European Prospective Investigation into Cancer and Nutrition-Potsdam study.

    Science.gov (United States)

    Zietemann, Vera; Kröger, Janine; Enzenbach, Cornelia; Jansen, Eugene; Fritsche, Andreas; Weikert, Cornelia; Boeing, Heiner; Schulze, Matthias B

    2010-12-01

    Delta-5 (D5D) and delta-6 (D6D) desaturases are key enzymes in PUFA metabolism. Several factors (e.g. hyperglycaemia, hypertension, blood lipids, statins and fatty acids in diet and biological tissues) may influence desaturase activity. The goals were to evaluate the associations between variation in genes encoding these desaturases (FADS1 and FADS2) and blood concentrations of n-6 PUFA and estimated D5D and D6D activities (evaluated as product/precursor ratio), and to investigate whether other factors influencing the activity of desaturases modify these associations. A random sample of 2066 participants from the European Prospective Investigation into Cancer and Nutrition-Potsdam study (n 27 548) was utilised in the analyses. Crude and adjusted associations between rs174546 genotypes (reflecting genetic variation in the FADS1 FADS2 gene cluster), n-6 PUFA in erythrocytes and estimated desaturase activities were evaluated using multiple linear regression. Potential effect modification was determined by performing stratified analyses and evaluating interaction terms. We found rs174546 genotypes to be related to linoleic (r² 0·060), γ-linolenic (r² 0·041), eicosadienoic (r² 0·034), arachidonic (r² 0·026), docosatetraenoic acids (r² 0·028), estimated D6D activity (r² 0·052) and particularly strongly to dihomo-γ-linolenic acid (DGLA, r² 0·182) and D5D activity (r² 0·231). We did not observe effect modifications with regard to the estimated D5D activity, DGLA and arachidonic acid (AA) for most of the factors evaluated; however, the genetic effect on D5D activity and DGLA may be modified by the dietary n-6:n-3-ratio (P-values for interaction: 0·008 and 0·002), and the genetic effect on DGLA and AA may be modified by lipid-lowering medication (P-values for interaction: 0·0004 and 0·006). In conclusion, genetic variation in the FADS1 FADS2 gene cluster affects n-6 PUFA profiles in erythrocytes reflecting altered D5D activity.

  14. Using Mathematics, Mathematical Applications, Mathematical Modelling, and Mathematical Literacy: A Theoretical Study

    Science.gov (United States)

    Mumcu, Hayal Yavuz

    2016-01-01

    The purpose of this theoretical study is to explore the relationships between the concepts of using mathematics in the daily life, mathematical applications, mathematical modelling, and mathematical literacy. As these concepts are generally taken as independent concepts in the related literature, they are confused with each other and it becomes…

  15. Mathematics through millenia

    DEFF Research Database (Denmark)

    Hansen, Vagn Lundsgaard

    A brief tour through the history of mathematics from the very beginnings to modern times, with an emphasis on the main contributions and important periods of mathematics in various civilizations.......A brief tour through the history of mathematics from the very beginnings to modern times, with an emphasis on the main contributions and important periods of mathematics in various civilizations....

  16. Mathematics through Millenia

    DEFF Research Database (Denmark)

    Hansen, Vagn Lundsgaard

    2005-01-01

    A brief tour through the history of mathematics from the very beginnings to modern times, with an emphasis on the main contributions and important periods of mathematics in various civilizations.......A brief tour through the history of mathematics from the very beginnings to modern times, with an emphasis on the main contributions and important periods of mathematics in various civilizations....

  17. Genetic transformation of European chestnut somatic embryos with a native thaumatin-like protein (CsTL1) gene isolated from Castanea sativa seeds.

    Science.gov (United States)

    Corredoira, Elena; Valladares, Silvia; Allona, Isabel; Aragoncillo, Cipriano; Vieitez, Ana M; Ballester, Antonio

    2012-11-01

    The availability of a system for direct transfer of antifungal candidate genes into European chestnut (Castanea sativa Mill.) would offer an alternative approach to conventional breeding for production of chestnut trees tolerant to ink disease caused by Phytophthora spp. For the first time, a chestnut thaumatin-like protein gene (CsTL1), isolated from chestnut cotyledons, has been overexpressed in three chestnut somatic embryogenic lines. Transformation experiments have been performed using an Agrobacterium tumefaciens Smith and Townsend vector harboring the neomycin phosphotransferase (NPTII) selectable and the green fluorescent protein (EGFP) reporter genes. The transformation efficiency, determined on the basis of the fluorescence of surviving explants, was clearly genotype dependent and ranged from 32.5% in the CI-9 line to 7.1% in the CI-3 line. A total of 126 independent transformed lines were obtained. The presence and integration of chestnut CsTL1 in genomic DNA was confirmed by polymerase chain reaction (PCR) and Southern blot analyses. Quantitative real-time PCR revealed that CsTL1 expression was up to 13.5-fold higher in a transgenic line compared with its corresponding untransformed line. In only one of the 11 transformed lines tested, expression of the CsTL1 was lower than the control. The remaining 115 transformed lines were successfully subjected to cryopreservation. Embryo proliferation was achieved in all of the transgenic lines regenerated and the transformed lines showed a higher mean number of cotyledonary stage embryos and total number of embryos per embryo clump than their corresponding untransformed lines. Transgenic plants were regenerated after maturation and germination of transformed somatic embryos. Furthermore, due to the low plantlet conversion achieved, axillary shoot proliferation cultures were established from partially germinated embryos (only shoot development), which were multiplied and rooted according to procedures already

  18. Genetic parameters and allele frequencies of five new European Standard Set STR loci (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in the population of Romania

    Science.gov (United States)

    Stanciu, Florin; Vladu, Simona; Cuţăr, Veronica; Cocioabă, Daniela; Iancu, Florentina; Cotolea, Adnana; Stoian, Ionel Marius

    2013-01-01

    Aim To establish allele frequencies and genetic parameters for 5 new European Standard Set short tandem repeat (STR) loci in the population of Romania and to compare them with those in other populations. Methods DNA was isolated using QIAamp 96 DNA Swab BioRobot Kit and Chelex 100 methods. Polymerase chain reaction amplification was done using Investigator ESSplexPlus Kit (D1S1656, D2S441, D2S1338, D3S1358, D8S1179, D10S1248, D12S391, D16S539, D18S51, D19S433, D21S11, D22S1045, FGA, TH01, and vWA). For DNA typing, Applied Biosystems 3500/3500xL Genetic Analyzer was used. Statistical analysis was done using Powerstats, GDA, and Arlequin software. Results Power of discrimination and polymorphism information content was highest for two new ESS loci, D1S1656 and D12S391. Comparison of allele frequencies for 5 new ESS loci in Romanian population with previously published population data showed significant differences for all compared populations, with the exception of Hungary. Geographically more distant populations, such as Spain, Sweden, United Kingdom, Germany, and Portugal differed more than closer populations. Conclusion New ESS STR loci are very useful for the analysis of forensic samples (persons or traces) due to their characteristics (shortness and high polymorphism). In comparisons with other common STR markers, they have a higher power of discrimination and also higher polymorphism information content, and could be used in any national DNA database. PMID:23771753

  19. Inverse European Latitudinal Cline at the timeless Locus of Drosophila melanogaster Reveals Selection on a Clock Gene: Population Genetics of ls-tim.

    Science.gov (United States)

    Zonato, Valeria; Vanin, Stefano; Costa, Rodolfo; Tauber, Eran; Kyriacou, Charalambos P

    2017-11-01

    The spread of adaptive genetic variants in populations is a cornerstone of evolutionary theory but with relatively few biologically well-understood examples. Previous work on the ls-tim variant of timeless, which encodes the light-sensitive circadian regulator in Drosophila melanogaster, suggests that it may have originated in southeastern Italy. Flies characterized by the new allele show photoperiod-related phenotypes likely to be adaptive in seasonal environments. ls-tim may be spreading from its point of origin in Italy by directional selection, but there are alternative explanations for its observed clinal geographical distribution, including balancing selection and demography. From population analyses of ls-tim frequencies collected on the eastern side of the Iberian Peninsula, we show that ls-tim frequencies are inverted compared with those in Italy. This pattern is consistent with a scenario of directional selection rather than latitude-associated balancing selection. Neutrality tests further reveal the signature of directional selection at the ls-tim site, which is reduced a few kb pairs either side of ls-tim. A reanalysis of allele frequencies from a large number of microsatellite loci do not demonstrate any frequent ls-tim-like spatial patterns, so a general demographic effect or population expansion from southeastern Italy cannot readily explain current ls-tim frequencies. Finally, a revised estimate of the age of ls-tim allele using linkage disequilibrium and coalescent-based approaches reveals that it may be only 300 to 3000 years old, perhaps explaining why it has not yet gone to fixation. ls-tim thus provides a rare temporal snapshot of a new allele that has come under selection before it reaches equilibrium.

  20. Mathematical Resilience of Mathematics Education Students

    Science.gov (United States)

    Hutauruk, A. J. B.; Priatna, N.

    2017-09-01

    Difficulties and obstacles in the process of learning mathematics can lead to unpleasant pressures and negative conditions. These negative pressures and conditions can be a bad experience for learners. Resilience is related to students’ affective ability to deal with and be able to overcome obstacles and negative situations in the learning process, turning those negative situations into situations that support them. Resilient students are able to get better learning outcomes than they expect. This paper discusses the level of mathematics education students resilience based on four factors of mathematical resilience. Through this research, it was shown the correlated and the effect of indicators on student’s mathematical resilience, separately and simultaneously. Using Mathematical Resilience Scale obtained the result of the study which describes the resilience level of mathematics education students.

  1. Nosology, epidemiology and genetics of schizophrenia

    Energy Technology Data Exchange (ETDEWEB)

    Tsuang, M.T.; Simpson, J.C. (Harvard Schools of Medicine and Public Health, Brockton, MA (US))

    1988-01-01

    This book contains 25 selections. Some of the titles are: The genetics of schizophrenia: An overview; The genetics of schizo-affective disorder and the schizophrenia spectrum; Mathematical models of genetic transmission; and Genetic studies of biochemical, pathophysiological and pharmacological factors in schizophrenia.

  2. Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies.

    Science.gov (United States)

    Nettleton, Jennifer A; McKeown, Nicola M; Kanoni, Stavroula; Lemaitre, Rozenn N; Hivert, Marie-France; Ngwa, Julius; van Rooij, Frank J A; Sonestedt, Emily; Wojczynski, Mary K; Ye, Zheng; Tanaka, Tosh; Garcia, Melissa; Anderson, Jennifer S; Follis, Jack L; Djousse, Luc; Mukamal, Kenneth; Papoutsakis, Constantina; Mozaffarian, Dariush; Zillikens, M Carola; Bandinelli, Stefania; Bennett, Amanda J; Borecki, Ingrid B; Feitosa, Mary F; Ferrucci, Luigi; Forouhi, Nita G; Groves, Christopher J; Hallmans, Goran; Harris, Tamara; Hofman, Albert; Houston, Denise K; Hu, Frank B; Johansson, Ingegerd; Kritchevsky, Stephen B; Langenberg, Claudia; Launer, Lenore; Liu, Yongmei; Loos, Ruth J; Nalls, Michael; Orho-Melander, Marju; Renstrom, Frida; Rice, Kenneth; Riserus, Ulf; Rolandsson, Olov; Rotter, Jerome I; Saylor, Georgia; Sijbrands, Eric J G; Sjogren, Per; Smith, Albert; Steingrímsdóttir, Laufey; Uitterlinden, André G; Wareham, Nicholas J; Prokopenko, Inga; Pankow, James S; van Duijn, Cornelia M; Florez, Jose C; Witteman, Jacqueline C M; Dupuis, Josée; Dedoussis, George V; Ordovas, Jose M; Ingelsson, Erik; Cupples, L Adrienne; Siscovick, David S; Franks, Paul W; Meigs, James B

    2010-12-01

    Whole-grain foods are touted for multiple health benefits, including enhancing insulin sensitivity and reducing type 2 diabetes risk. Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) associated with fasting glucose and insulin concentrations in individuals free of diabetes. We tested the hypothesis that whole-grain food intake and genetic variation interact to influence concentrations of fasting glucose and insulin. Via meta-analysis of data from 14 cohorts comprising ∼ 48,000 participants of European descent, we studied interactions of whole-grain intake with loci previously associated in GWAS with fasting glucose (16 loci) and/or insulin (2 loci) concentrations. For tests of interaction, we considered a P value fasting glucose and insulin concentrations independent of demographics, other dietary and lifestyle factors, and BMI (β [95% CI] per 1-serving-greater whole-grain intake: -0.009 mmol/l glucose [-0.013 to -0.005], P fasting insulin (P = 0.006), where greater whole-grain intake was associated with a smaller reduction in fasting insulin concentrations in those with the insulin-raising allele. Our results support the favorable association of whole-grain intake with fasting glucose and insulin and suggest a potential interaction between variation in GCKR and whole-grain intake in influencing fasting insulin concentrations.

  3. Surveying selected European feed and livestock production chains for features enabling the case-specific post-market monitoring of livestock for intake and potential health impacts of animal feeds derived from genetically modified crops.

    Science.gov (United States)

    Kleter, Gijs; McFarland, Sarah; Bach, Alex; Bernabucci, Umberto; Bikker, Paul; Busani, Luca; Kok, Esther; Kostov, Kaloyan; Nadal, Anna; Pla, Maria; Ronchi, Bruno; Terre, Marta; Einspanier, Ralf

    2017-10-06

    This review, which has been prepared within the frame of the European Union (EU)-funded project MARLON, surveys the organisation and characteristics of specific livestock and feed production chains (conventional, organic, GM-free) within the EU, with an emphasis on controls, regulations, traceability, and common production practices. Furthermore, an overview of the origin of animal feed used in the EU as well as an examination of the use of genetically modified organisms (GMOs) in feed is provided. From the data, it shows that livestock is traceable at the herd or individual level, depending on the species. Husbandry practices can vary widely according to geography and animal species, whilst controls and checks are in place for notifiable diseases and general health symptoms (such as mortality, disease, productive performance). For feeds, it would be possible only to make coarse estimates, at best, for the amount of GM feed ingredients that an animal is exposed to. Labeling requirements are apparently correctly followed. Provided that confounding factors are taken into account, practices such as organic agriculture that explicitly involve the use of non-GM feeds could be used for comparison to those involving the use of GM feed. Copyright © 2017 Elsevier Ltd. All rights reserved.

  4. Mathematics without boundaries surveys in pure mathematics

    CERN Document Server

    Pardalos, Panos

    2014-01-01

    The contributions in this volume have been written by eminent scientists from the international mathematical community and present significant advances in several theories, methods and problems of Mathematical Analysis, Discrete Mathematics, Geometry and their Applications. The chapters focus on both old and recent developments in Functional Analysis, Harmonic Analysis, Complex Analysis, Operator Theory, Combinatorics, Functional Equations, Differential Equations as well as a variety of Applications. The book also contains some review works, which could prove particularly useful for a broader audience of readers in Mathematical Sciences, and especially to graduate students looking for the  latest information.

  5. The Etiology of Mathematical Self-Evaluation and Mathematics Achievement: Understanding the Relationship Using a Cross-Lagged Twin Study from Ages 9 to 12

    Science.gov (United States)

    Luo, Yu L. L.; Kovas, Yulia; Haworth, Claire M. A.; Plomin, Robert

    2011-01-01

    The genetic and environmental origins of individual differences in mathematical self-evaluation over time and its association with later mathematics achievement were investigated in a UK sample of 2138 twin pairs at ages 9 and 12. Self-evaluation indexed how good children think they are at mathematical activities and how much they like those…

  6. Mathematical methods for protein science

    Energy Technology Data Exchange (ETDEWEB)

    Hart, W.; Istrail, S.; Atkins, J. [Sandia National Labs., Albuquerque, NM (United States)

    1997-12-31

    Understanding the structure and function of proteins is a fundamental endeavor in molecular biology. Currently, over 100,000 protein sequences have been determined by experimental methods. The three dimensional structure of the protein determines its function, but there are currently less than 4,000 structures known to atomic resolution. Accordingly, techniques to predict protein structure from sequence have an important role in aiding the understanding of the Genome and the effects of mutations in genetic disease. The authors describe current efforts at Sandia to better understand the structure of proteins through rigorous mathematical analyses of simple lattice models. The efforts have focused on two aspects of protein science: mathematical structure prediction, and inverse protein folding.

  7. Using Spreadsheets to Teach Aspects of Biology Involving Mathematical Models

    Science.gov (United States)

    Carlton, Kevin; Nicholls, Mike; Ponsonby, David

    2004-01-01

    Some aspects of biology, for example the Hardy-Weinberg simulation of population genetics or modelling heat flow in lizards, have an undeniable mathematical basis. Students can find the level of mathematical skill required to deal with such concepts to be an insurmountable hurdle to understanding. If not used effectively, spreadsheet models…

  8. Consequences, characteristics, and causes of mathematical learning disabilities and persistent low achievement in mathematics.

    Science.gov (United States)

    Geary, David C

    2011-04-01

    The goals of the review are threefold: (a) to highlight the educational and employment consequences of poorly developed mathematical competencies; (b) overview the characteristics of children with mathematical learning disability (MLD) and with persistently low achievement (LA) in mathematics; and (c) provide a primer on cognitive science research that is aimed at identifying the cognitive mechanisms underlying these learning disabilities and associated cognitive interventions. Literatures on the educational and economic consequences of poor mathematics achievement were reviewed and integrated with reviews of epidemiological, behavioral genetic, and cognitive science studies of poor mathematics achievement. Poor mathematical competencies are common among adults and result in employment difficulties and difficulties in many common day-to-day activities. Among students, ∼ 7% of children and adolescents have MLD and another 10% show persistent LA in mathematics, despite average abilities in most other areas. Children with MLD and their LA peers have deficits in understanding and representing numerical magnitude, difficulties retrieving basic arithmetic facts from long-term memory, and delays in learning mathematical procedures. These deficits and delays cannot be attributed to intelligence but are related to working memory deficits for children with MLD, but not LA children. These individuals have identifiable number and memory delays and deficits that seem to be specific to mathematics learning. Interventions that target these cognitive deficits are in development and preliminary results are promising.

  9. Mathematics for Language, Language for Mathematics

    Science.gov (United States)

    Prochazkova, Lenka Tejkalova

    2013-01-01

    The author discusses the balance and mutual influence of the language of instruction and mathematics in the context of CLIL, Content and Language Integrated Learning. Different aspects of the relationship of language and Mathematics teaching and learning are discussed: the benefits of using a foreign language of instruction, as well as the…

  10. Relationship between Mathematics Anxiety and Mathematics ...

    African Journals Online (AJOL)

    Mathematics Anxiety Questionnaire (MAQ) was used to collect data. Frequency counts, percentages, t-test and Pearson Product Moment Correlation were used in analyzing the data. The results showed that the level of students' mathematics anxiety was above average, and there was negative relationship between ...

  11. Mathematical methods in biology and neurobiology

    CERN Document Server

    Jost, Jürgen

    2014-01-01

    Mathematical models can be used to meet many of the challenges and opportunities offered by modern biology. The description of biological phenomena requires a range of mathematical theories. This is the case particularly for the emerging field of systems biology. Mathematical Methods in Biology and Neurobiology introduces and develops these mathematical structures and methods in a systematic manner. It studies:   • discrete structures and graph theory • stochastic processes • dynamical systems and partial differential equations • optimization and the calculus of variations.   The biological applications range from molecular to evolutionary and ecological levels, for example:   • cellular reaction kinetics and gene regulation • biological pattern formation and chemotaxis • the biophysics and dynamics of neurons • the coding of information in neuronal systems • phylogenetic tree reconstruction • branching processes and population genetics • optimal resource allocation • sexual recombi...

  12. Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study.

    Science.gov (United States)

    Tin, Adrienne; Köttgen, Anna; Folsom, Aaron R; Maruthur, Nisa M; Tajuddin, Salman M; Nalls, Mike A; Evans, Michele K; Zonderman, Alan B; Friedrich, Christopher A; Boerwinkle, Eric; Coresh, Josef; Kao, Wen Hong Linda

    2015-05-29

    Low serum magnesium levels have been associated with multiple chronic diseases. The regulation of serum magnesium homeostasis is not well understood. A previous genome-wide association study (GWAS) of European ancestry (EA) populations identified nine loci for serum magnesium. No such study has been conducted in African-Americans, nor has there been an evaluation of the interaction of magnesium-associated SNPs with environmental factors. The goals of this study were to identify genetic loci associated with serum magnesium in an African-American (AA) population using both genome-wide and candidate region interrogation approaches and to evaluate gene-environment interaction for the magnesium-associated variants in both EA and AA populations. We conducted a GWAS of serum magnesium in 2737 AA participants of the Atherosclerosis Risk in Communities (ARIC) Study and interrogated the regions of the nine published candidate loci in these results. Literature search identified the influence of progesterone on MUC1 expression and insulin on TRPM6 expression. The GWAS approach in African-American participants identified a locus near MUC1 as genome-wide significant (rs2974937, beta=-0.013, p=6.1x10(-9)). The candidate region interrogation approach identified two of the nine loci previously discovered in EA populations as containing SNPs that were significantly associated in African-American participants (SHROOM3 and TRPM6). The index variants at these three loci together explained 2.8 % of the variance in serum magnesium concentration in ARIC African-American participants. On the test of gene-environment interaction in ARIC EA participants, the index variant at MUC1 had 2.5 times stronger association in postmenopausal women with progestin use (beta=-0.028, p=7.3x10(-5)) than in those without any hormone use (beta=-0.011, p=7.0x10(-8), p for interaction 0.03). At TRPM6, the index variant had 1.6 times stronger association in those with lower fasting insulin levels (gene

  13. The argument of mathematics

    CERN Document Server

    Aberdein, Andrew

    2014-01-01

    This book presents a comprehensive investigation into the relationship between argumentation theory and the philosophy of mathematical practice. It offers large array of examples ranging from the history of mathematics to formal proof verification.

  14. Mathematical Modeling Using MATLAB

    National Research Council Canada - National Science Library

    Phillips, Donovan

    1998-01-01

    .... Mathematical Modeling Using MA MATLAB acts as a companion resource to A First Course in Mathematical Modeling with the goal of guiding the reader to a fuller understanding of the modeling process...

  15. Mathematical and statistical analysis

    Science.gov (United States)

    Houston, A. Glen

    1988-01-01

    The goal of the mathematical and statistical analysis component of RICIS is to research, develop, and evaluate mathematical and statistical techniques for aerospace technology applications. Specific research areas of interest include modeling, simulation, experiment design, reliability assessment, and numerical analysis.

  16. Is Cinderella Mathematically Literate?

    Science.gov (United States)

    Usnick, Virginia; Maxson, Sylvia

    1996-01-01

    Presents a sequence of mathematics lessons for middle school students that incorporates multicultural versions of the Cinderella story while students learn mathematical objectives related to classification and logical thinking. (SR)

  17. Mathematical knowledge in teaching

    CERN Document Server

    Rowland, Tim

    2011-01-01

    This book examines issues of considerable significance in addressing global aspirations to raise standards of teaching and learning in mathematics by developing approaches to characterizing, assessing and developing mathematical knowledge for teaching.

  18. Semiotic Scaffolding in Mathematics

    DEFF Research Database (Denmark)

    Johansen, Mikkel Willum; Misfeldt, Morten

    2015-01-01

    This paper investigates the notion of semiotic scaffolding in relation to mathematics by considering its influence on mathematical activities, and on the evolution of mathematics as a research field. We will do this by analyzing the role different representational forms play in mathematical...... cognition, and more broadly on mathematical activities. In the main part of the paper, we will present and analyze three different cases. For the first case, we investigate the semiotic scaffolding involved in pencil and paper multiplication. For the second case, we investigate how the development of new...... in both mathematical cognition and in the development of mathematics itself, but mathematical cognition cannot itself be reduced to the use of semiotic scaffolding....

  19. Developing My Mathematics Identity

    Science.gov (United States)

    Gonzalez, Lidia

    2016-01-01

    Assuming the role of storyteller, the author uses her experiences as a graduate student and beginning teacher to reflect critically on issues related to mathematics, mathematics education, gender, and diversity.

  20. Journal of applied mathematics

    National Research Council Canada - National Science Library

    2001-01-01

    "[The] Journal of Applied Mathematics is a refereed journal devoted to the publication of original research papers and review articles in all areas of applied, computational, and industrial mathematics...

  1. Mathematics for the nonmathematician

    CERN Document Server

    Kline, Morris

    1967-01-01

    Erudite and entertaining overview follows development of mathematics from ancient Greeks to present. Topics include logic and mathematics, the fundamental concept, differential calculus, probability theory, much more. Exercises and problems.

  2. Modern mathematics made simple

    CERN Document Server

    Murphy, Patrick

    1982-01-01

    Modern Mathematics: Made Simple presents topics in modern mathematics, from elementary mathematical logic and switching circuits to multibase arithmetic and finite systems. Sets and relations, vectors and matrices, tesselations, and linear programming are also discussed.Comprised of 12 chapters, this book begins with an introduction to sets and basic operations on sets, as well as solving problems with Venn diagrams. The discussion then turns to elementary mathematical logic, with emphasis on inductive and deductive reasoning; conjunctions and disjunctions; compound statements and conditional

  3. Mathematics on the internet

    OpenAIRE

    CHOCHOLATÁ, Monika

    2013-01-01

    This bachelor thesis analyzes web sites which deal with mathematics and mathematics teaching. These include web sites of college and universities. The theoretic part of the thesis includes analysis of possibilities offered by internet for the use in mathematics education. In the practical part we evaluate websites by four functions. The theme is extended by SEO test and special interest webs dedicated to the popularization of mathematics.

  4. Dynamics of mathematical models in biology bringing mathematics to life

    CERN Document Server

    Zazzu, Valeria; Guarracino, Mario

    2016-01-01

    This volume focuses on contributions from both the mathematics and life science community surrounding the concepts of time and dynamicity of nature, two significant elements which are often overlooked in modeling process to avoid exponential computations. The book is divided into three distinct parts: dynamics of genomes and genetic variation, dynamics of motifs, and dynamics of biological networks. Chapters included in dynamics of genomes and genetic variation analyze the molecular mechanisms and evolutionary processes that shape the structure and function of genomes and those that govern genome dynamics. The dynamics of motifs portion of the volume provides an overview of current methods for motif searching in DNA, RNA and proteins, a key process to discover emergent properties of cells, tissues, and organisms. The part devoted to the dynamics of biological networks covers networks aptly discusses networks in complex biological functions and activities that interpret processes in cells. Moreover, chapters i...

  5. Masculinities in mathematics

    CERN Document Server

    Mendick, Heather

    2006-01-01

    The study of mathematics, with other ''gendered'' subjects such as science and engineering, usually attracts more male than female pupils. This book explores this phenomenon, addressing the important question of why more boys than girls choose to study mathematics. It illuminates what studying mathematics means for both students and teachers.

  6. Mathematics Connection: Editorial Policies

    African Journals Online (AJOL)

    Focus and Scope. MATHEMATICS CONNECTION aims at providing a forum to promote the development of Mathematics Education in Ghana. Articles that seek to enhance the teaching and/or learning of mathematics at all levels of the educational system are welcome ...

  7. Mathematics Connection: Contact

    African Journals Online (AJOL)

    Principal Contact. Dr. Kofi Mereku Executive Editor Department of Mathematics Education, UCE Mathematical Association of Ghana, C/o Department of Mathematics Education University College of Education of Winneba P. O. Box 25, Winneba, Ghana Phone: +233244961318. Email: dkmereku@uew.edu.gh ...

  8. Mathematics in Combat

    Science.gov (United States)

    The purpose of this book is to familiarize the reader with how mathematics can solve important problems in modern military affairs. The authors...discuss and explain, without resorting to complex mathematical calculations, the essence of the basic methods which modern mathematics makes available to military problems, design and combat deployment of modern weapons.

  9. Creating Words in Mathematics

    Science.gov (United States)

    Galligan, Linda

    2016-01-01

    A "National Numeracy Report" and the Australian Curriculum (2014) have recognised the importance of language in mathematics. The general capabilities contained within the "Australian Curriculum: Mathematics" (2014) highlight literacy as an important tool in the teaching and learning of mathematics, from the interpretation of…

  10. Mathematical Engagement Skills

    Science.gov (United States)

    Ingram, Naomi

    2013-01-01

    In this paper, the mathematical engagement of Colin and Robyn is compared. Through this comparison, and informed by longitudinal research into the mathematical journeys of a group of students in New Zealand, a set of engagement skills emerged. Both students had high levels of engagement in mathematics. However, Colin was a thriving mathematics…

  11. Who Can Know Mathematics?

    Science.gov (United States)

    Walshaw, Margaret

    2014-01-01

    This paper explores contemporary thinking about learning mathematics, and within that, social justice within mathematics education. The discussion first looks at mechanisms offered by conventional explanations on the emancipatory project and then moves towards more recent insights developed within mathematics education. Synergies are drawn between…

  12. Mathematics a minimal introduction

    CERN Document Server

    Buium, Alexandru

    2013-01-01

    Pre-Mathematical Logic Languages Metalanguage Syntax Semantics Tautologies Witnesses Theories Proofs Argot Strategies Examples Mathematics ZFC Sets Maps Relations Operations Integers Induction Rationals Combinatorics Sequences Reals Topology Imaginaries Residues p-adics Groups Orders Vectors Matrices Determinants Polynomials Congruences Lines Conics Cubics Limits Series Trigonometry Integrality Reciprocity Calculus Metamodels Categories Functors Objectives Mathematical Logic Models Incompleteness Bibliography Index

  13. Mathematics Teaching as Praxis

    Science.gov (United States)

    Grootenboer, Peter; Edwards-Groves, Christine

    2014-01-01

    In this paper we argue that mathematics teaching can be conceptualised as a form of praxis. Viewing mathematics teaching as praxis foregrounds the moral nature of teaching and the educational practices that are developed in response to the educational needs in particular sites. The case for praxis in mathematics education is then made by drawing…

  14. (UBE) Mathematics Curricula

    African Journals Online (AJOL)

    ... the Nigerian Universal Basic Education mathematics curricula and suggests that mathematics teacher should undergo regular retraining programmes and employ the use of instructional aids in teaching . Keywords: Teachers, implementation, Universal Basic Education and Mathematics curricula. The Nigerian Journal Of ...

  15. Mathematical picture language program.

    Science.gov (United States)

    Jaffe, Arthur M; Liu, Zhengwei

    2018-01-02

    We give an overview of our philosophy of pictures in mathematics. We emphasize a bidirectional process between picture language and mathematical concepts: abstraction and simulation. This motivates a program to understand different subjects, using virtual and real mathematical concepts simulated by pictures. Copyright © 2017 the Author(s). Published by PNAS.

  16. Learning Environments in Mathematics

    Science.gov (United States)

    Turner, Vanshelle E.

    2017-01-01

    Learning mathematics is problematic for most primary school age children because mathematics is rote and the memorization of steps rather than an approach to seeing relationships that builds inquiry and understanding. Therefore, the traditional "algorithmic" way of teaching mathematics has not fully prepared students to be critical…

  17. Mathematics of Risk Taking

    Indian Academy of Sciences (India)

    user

    Mathematics of Risk Taking. K B Athreya and M G Nadkarni. Keywords. Investor, risk taking, fair game, martingale, random walk, gam- bling, population. (left) K B Athreya is a visiting professor at IMI,. Mathematics Department,. IISc, Bangalore and is also a professor of mathematics and statistics at Iowa State. University ...

  18. Mathematics and mysticism.

    Science.gov (United States)

    Abraham, Ralph

    2015-12-01

    Is there a world of mathematics above and beyond ordinary reality, as Plato proposed? Or is mathematics a cultural construct? In this short article we speculate on the place of mathematical reality from the perspective of the mystical cosmologies of the ancient traditions of meditation, psychedelics, and divination. Copyright © 2015. Published by Elsevier Ltd.

  19. Defining Mathematical Giftedness

    Science.gov (United States)

    Parish, Linda

    2014-01-01

    This theoretical paper outlines the process of defining "mathematical giftedness" for a present study on how primary school teaching shapes the mindsets of children who are mathematically gifted. Mathematical giftedness is not a badge of honour or some special value attributed to a child who has achieved something exceptional.…

  20. TWO CRITICISMS AGAINST MATHEMATICAL REALISM

    National Research Council Canada - National Science Library

    Seungbae Park

    2017-01-01

    Mathematical realism asserts that mathematical objects exist in the abstract world, and that a mathematical sentence is true or false, depending on whether the abstract world is as the mathematical sentence says...

  1. Livestock-Associated Methicillin Resistant and Methicillin Susceptible Staphylococcus aureus Sequence Type (CC)1 in European Farmed Animals: High Genetic Relatedness of Isolates from Italian Cattle Herds and Humans.

    Science.gov (United States)

    Alba, Patricia; Feltrin, Fabiola; Cordaro, Gessica; Porrero, María Concepción; Kraushaar, Britta; Argudín, María Angeles; Nykäsenoja, Suvi; Monaco, Monica; Stegger, Marc; Aarestrup, Frank M; Butaye, Patrick; Franco, Alessia; Battisti, Antonio

    2015-01-01

    Methicillin-resistant Staphylococcus aureus (MRSA) Sequence Type (ST)1, Clonal Complex(CC)1, SCCmec V is one of the major Livestock-Associated (LA-) lineages in pig farming industry in Italy and is associated with pigs in other European countries. Recently, it has been increasingly detected in Italian dairy cattle herds. The aim of this study was to analyse the differences between ST1 MRSA and methicillin-susceptible S. aureus (MSSA) from cattle and pig herds in Italy and Europe and human isolates. Sixty-tree animal isolates from different holdings and 20 human isolates were characterized by pulsed-field gel electrophoresis (PFGE), spa-typing, SCCmec typing, and by micro-array analysis for several virulence, antimicrobial resistance, and strain/host-specific marker genes. Three major PFGE clusters were detected. The bovine isolates shared a high (≥90% to 100%) similarity with human isolates and carried the same SCCmec type IVa. They often showed genetic features typical of human adaptation or present in human-associated CC1: Immune evasion cluster (IEC) genes sak and scn, or sea; sat and aphA3-mediated aminoglycoside resistance. Contrary, typical markers of porcine origin in Italy and Spain, like erm(A) mediated macrolide-lincosamide-streptograminB, and of vga(A)-mediated pleuromutilin resistance were always absent in human and bovine isolates. Most of ST(CC)1 MRSA from dairy cattle were multidrug-resistant and contained virulence and immunomodulatory genes associated with full capability of colonizing humans. As such, these strains may represent a greater human hazard than the porcine strains. The zoonotic capacity of CC1 LA-MRSA from livestock must be taken seriously and measures should be implemented at farm-level to prevent spill-over.

  2. Livestock-Associated Methicillin Resistant and Methicillin Susceptible Staphylococcus aureus Sequence Type (CC1 in European Farmed Animals: High Genetic Relatedness of Isolates from Italian Cattle Herds and Humans.

    Directory of Open Access Journals (Sweden)

    Patricia Alba

    Full Text Available Methicillin-resistant Staphylococcus aureus (MRSA Sequence Type (ST1, Clonal Complex(CC1, SCCmec V is one of the major Livestock-Associated (LA- lineages in pig farming industry in Italy and is associated with pigs in other European countries. Recently, it has been increasingly detected in Italian dairy cattle herds. The aim of this study was to analyse the differences between ST1 MRSA and methicillin-susceptible S. aureus (MSSA from cattle and pig herds in Italy and Europe and human isolates. Sixty-tree animal isolates from different holdings and 20 human isolates were characterized by pulsed-field gel electrophoresis (PFGE, spa-typing, SCCmec typing, and by micro-array analysis for several virulence, antimicrobial resistance, and strain/host-specific marker genes. Three major PFGE clusters were detected. The bovine isolates shared a high (≥90% to 100% similarity with human isolates and carried the same SCCmec type IVa. They often showed genetic features typical of human adaptation or present in human-associated CC1: Immune evasion cluster (IEC genes sak and scn, or sea; sat and aphA3-mediated aminoglycoside resistance. Contrary, typical markers of porcine origin in Italy and Spain, like erm(A mediated macrolide-lincosamide-streptograminB, and of vga(A-mediated pleuromutilin resistance were always absent in human and bovine isolates. Most of ST(CC1 MRSA from dairy cattle were multidrug-resistant and contained virulence and immunomodulatory genes associated with full capability of colonizing humans. As such, these strains may represent a greater human hazard than the porcine strains. The zoonotic capacity of CC1 LA-MRSA from livestock must be taken seriously and measures should be implemented at farm-level to prevent spill-over.

  3. Livestock-Associated Methicillin Resistant and Methicillin Susceptible Staphylococcus aureus Sequence Type (CC)1 in European Farmed Animals: High Genetic Relatedness of Isolates from Italian Cattle Herds and Humans

    Science.gov (United States)

    Alba, Patricia; Feltrin, Fabiola; Cordaro, Gessica; Porrero, María Concepción; Kraushaar, Britta; Argudín, María Angeles; Nykäsenoja, Suvi; Monaco, Monica; Stegger, Marc; Aarestrup, Frank M.; Butaye, Patrick; Franco, Alessia; Battisti, Antonio

    2015-01-01

    Methicillin-resistant Staphylococcus aureus (MRSA) Sequence Type (ST)1, Clonal Complex(CC)1, SCCmec V is one of the major Livestock-Associated (LA-) lineages in pig farming industry in Italy and is associated with pigs in other European countries. Recently, it has been increasingly detected in Italian dairy cattle herds. The aim of this study was to analyse the differences between ST1 MRSA and methicillin-susceptible S. aureus (MSSA) from cattle and pig herds in Italy and Europe and human isolates. Sixty-tree animal isolates from different holdings and 20 human isolates were characterized by pulsed-field gel electrophoresis (PFGE), spa-typing, SCCmec typing, and by micro-array analysis for several virulence, antimicrobial resistance, and strain/host-specific marker genes. Three major PFGE clusters were detected. The bovine isolates shared a high (≥90% to 100%) similarity with human isolates and carried the same SCCmec type IVa. They often showed genetic features typical of human adaptation or present in human-associated CC1: Immune evasion cluster (IEC) genes sak and scn, or sea; sat and aphA3-mediated aminoglycoside resistance. Contrary, typical markers of porcine origin in Italy and Spain, like erm(A) mediated macrolide-lincosamide-streptograminB, and of vga(A)-mediated pleuromutilin resistance were always absent in human and bovine isolates. Most of ST(CC)1 MRSA from dairy cattle were multidrug-resistant and contained virulence and immunomodulatory genes associated with full capability of colonizing humans. As such, these strains may represent a greater human hazard than the porcine strains. The zoonotic capacity of CC1 LA-MRSA from livestock must be taken seriously and measures should be implemented at farm-level to prevent spill-over. PMID:26322785

  4. EULER - A Real Virtual Library for Mathematics

    CERN Document Server

    Jost, Michael

    2004-01-01

    The EULER project completed its work in November 2002. It forms the last part of a very successful project in the specialized but global discipline of mathematics. After a successful RTD project had created the technology, a take-up project has effectively exploited it to the point where its future is assured through a not-for-profit consortium. EULER is a European based, world class, real virtual library for mathematics with up-to-date technological solutions, well accepted by users. In particular, EULER provides a world reference and delivery service, transparent to the end user and offering full coverage of the mathematics literature world-wide, including bibliographic data, peer reviews and/or abstracts, indexing, classification and search, transparent access to library services, co-operation with commercial information providers (publishers, bookstores). The EULER services provide a gateway to the electronic catalogues and repositories of participating institutions, while the latter retain complete respo...

  5. Mathematics in ancient Greece

    CERN Document Server

    Dantzig, Tobias

    2006-01-01

    More than a history of mathematics, this lively book traces mathematical ideas and processes to their sources, stressing the methods used by the masters of the ancient world. Author Tobias Dantzig portrays the human story behind mathematics, showing how flashes of insight in the minds of certain gifted individuals helped mathematics take enormous forward strides. Dantzig demonstrates how the Greeks organized their precursors' melange of geometric maxims into an elegantly abstract deductive system. He also explains the ways in which some of the famous mathematical brainteasers of antiquity led

  6. The nature of mathematics

    CERN Document Server

    Jourdain, Philip E B

    2007-01-01

    Anyone with an interest in mathematics will welcome the republication of this little volume by a remarkable mathematician who was also a logician, a philosopher, and an occasional writer of fiction and poetry. Originally published in 1913, and later included in the acclaimed anthology The World of Mathematics, Jourdain's survey shows how and why the methods of mathematics were developed, traces the development of mathematical science from the earliest to modern times, and chronicles the application of mathematics to natural science.Starting with the ancient Egyptians and Greeks, the author p

  7. The development of mathematics

    CERN Document Server

    Bell, Eric Temple

    1945-01-01

    ""This important book . . . presents a broad account of the part played by mathematics in the evolution of civilization, describing clearly the main principles, methods, and theories of mathematics that have survived from about 4000 BC to 1940.""― BooklistIn this time-honored study, one of the 20th century's foremost scholars and interpreters of the history and meaning of mathematics masterfully outlines the development of its leading ideas, and clearly explains the mathematics involved in each. According to the author, a professor of mathematics at the California Institute of Technology from

  8. Mathematics for the imagination

    CERN Document Server

    Higgins, Peter

    2002-01-01

    Mathematics for the Imagination provides an accessible and entertaining investigation into mathematical problems in the world around us. From world navigation, family trees, and calendars to patterns, tessellations, and number tricks, this informative and fun new book helps you to understand the maths behind real-life questions and rediscover your arithmetical mind.This is a follow-up to the popular Mathematics for the Curious, Peter Higgins's first investigation into real-life mathematical problems.A highly involving book which encourages the reader to enter into the spirit of mathematical ex

  9. The development of mathematics

    CERN Document Server

    Bell, E T

    1992-01-01

    ""This important book . . . presents a broad account of the part played by mathematics in the evolution of civilization, describing clearly the main principles, methods, and theories of mathematics that have survived from about 4000 BC to 1940.""― BooklistIn this time-honored study, one of the 20th century's foremost scholars and interpreters of the history and meaning of mathematics masterfully outlines the development of its leading ideas, and clearly explains the mathematics involved in each. According to the author, a professor of mathematics at the California Institute of Technology from

  10. Introductory discrete mathematics

    CERN Document Server

    Balakrishnan, V K

    2010-01-01

    This concise text offers an introduction to discrete mathematics for undergraduate students in computer science and mathematics. Mathematics educators consider it vital that their students be exposed to a course in discrete methods that introduces them to combinatorial mathematics and to algebraic and logical structures focusing on the interplay between computer science and mathematics. The present volume emphasizes combinatorics, graph theory with applications to some stand network optimization problems, and algorithms to solve these problems.Chapters 0-3 cover fundamental operations involv

  11. Mathematics for physical chemistry

    CERN Document Server

    Mortimer, Robert G

    2013-01-01

    Mathematics for Physical Chemistry is the ideal supplementary text for practicing chemists and students who want to sharpen their mathematics skills while enrolled in general through physical chemistry courses. This book specifically emphasizes the use of mathematics in the context of physical chemistry, as opposed to being simply a mathematics text. This 4e includes new exercises in each chapter that provide practice in a technique immediately after discussion or example and encourage self-study. The early chapters are constructed around a sequence of mathematical topics, wit

  12. What is mathematical logic?

    CERN Document Server

    Crossley, J N; Brickhill, CJ; Stillwell, JC

    2010-01-01

    Although mathematical logic can be a formidably abstruse topic, even for mathematicians, this concise book presents the subject in a lively and approachable fashion. It deals with the very important ideas in modern mathematical logic without the detailed mathematical work required of those with a professional interest in logic.The book begins with a historical survey of the development of mathematical logic from two parallel streams: formal deduction, which originated with Aristotle, Euclid, and others; and mathematical analysis, which dates back to Archimedes in the same era. The streams beg

  13. Fundamental concepts of mathematics

    CERN Document Server

    Goodstein, R L

    Fundamental Concepts of Mathematics, 2nd Edition provides an account of some basic concepts in modern mathematics. The book is primarily intended for mathematics teachers and lay people who wants to improve their skills in mathematics. Among the concepts and problems presented in the book include the determination of which integral polynomials have integral solutions; sentence logic and informal set theory; and why four colors is enough to color a map. Unlike in the first edition, the second edition provides detailed solutions to exercises contained in the text. Mathematics teachers and people

  14. Philosophy of mathematics

    CERN Document Server

    Gabbay, Dov M; Woods, John

    2009-01-01

    One of the most striking features of mathematics is the fact that we are much more certain about the mathematical knowledge we have than about what mathematical knowledge is knowledge of. Are numbers, sets, functions and groups physical entities of some kind? Are they objectively existing objects in some non-physical, mathematical realm? Are they ideas that are present only in the mind? Or do mathematical truths not involve referents of any kind? It is these kinds of questions that have encouraged philosophers and mathematicians alike to focus their attention on issues in the philosophy of mat

  15. Mathematics for physicists

    CERN Document Server

    Martin, B R

    2015-01-01

    Mathematics for Physicists is a relatively short volume covering all the essential mathematics needed for a typical first degree in physics, from a starting point that is compatible with modern school mathematics syllabuses. Early chapters deliberately overlap with senior school mathematics, to a degree that will depend on the background of the individual reader, who may quickly skip over those topics with which he or she is already familiar. The rest of the book covers the mathematics that is usually compulsory for all students in their first two years of a typical university physics degree, plus a little more. There are worked examples throughout the text, and chapter-end problem sets. Mathematics for Physicists features: * Interfaces with modern school mathematics syllabuses * All topics usually taught in the first two years of a physics degree * Worked examples throughout * Problems in every chapter, with answers to selected questions at the end of the book and full solutions on a website This text will ...

  16. Meaning in mathematics education

    CERN Document Server

    Valero, Paola; Hoyles, Celia; Skovsmose, Ole

    2005-01-01

    What does it mean to know mathematics? How does meaning in mathematics education connect to common sense or to the meaning of mathematics itself? How are meanings constructed and communicated and what are the dilemmas related to these processes? There are many answers to these questions, some of which might appear to be contradictory. Thus understanding the complexity of meaning in mathematics education is a matter of huge importance. There are twin directions in which discussions have developed - theoretical and practical - and this book seeks to move the debate forward along both dimensions while seeking to relate them where appropriate. A discussion of meaning can start from a theoretical examination of mathematics and how mathematicians over time have made sense of their work. However, from a more practical perspective, anybody involved in teaching mathematics is faced with the need to orchestrate the myriad of meanings derived from multiple sources that students develop of mathematical knowledge.

  17. Mathematics and the surgeon.

    Science.gov (United States)

    Crank, J.

    1976-01-01

    The surgeon uses elementary mathematics just as much as any other educated layman. In his professional life, however, much of the knowledge and skill on which he relies has had a mathematical strand in its development, possibly woven into the supporting disciplines such as physics, chemistry, biology, and bioengineering. The valves and limitations of mathematical models are examined briefly in the general medical field and particularly in relation to the surgeon. Arithmetic and statistics are usually regarded as the most immediately useful parts of mathematics. Examples are cited, however, of medical postgraduate work which uses other highly advanced mathematical techniques. The place of mathematics in postgraduate and postexperience teaching courses is touched on. The role of a mathematical consultant in the medical team is discussed. PMID:942167

  18. Behavioural genetic differences between Chinese and European ...

    Indian Academy of Sciences (India)

    Navya

    2017-01-16

    Jan 16, 2017 ... Aggressiveness can be investigated by direct or video observations, either by recording the total number of initiated and received attacks for each pig or by recording the identity and ..... Academic Press, San Diego. pp. 397-434. Sutherland, M.A., Bryer, P.J., Krebs, N., and McGlone, J.J. 2008 Tail docking in ...

  19. Possible health impacts of Bt toxins and residues from spraying with complementary herbicides in genetically engineered soybeans and risk assessment as performed by the European Food Safety Authority EFSA.

    Science.gov (United States)

    Then, Christoph; Bauer-Panskus, Andreas

    2017-01-01

    MON89788 was the first genetically engineered soybean worldwide to express a Bt toxin. Under the brand name Intacta, Monsanto subsequently engineered a stacked trait soybean using MON89788 and MON87701-this stacked soybean expresses an insecticidal toxin and is, in addition, tolerant to glyphosate. After undergoing risk assessment by the European Food Safety Authority (EFSA), the stacked event was authorised for import into the EU in June 2012, including for use in food and feed. This review discusses the health risks associated with Bt toxins present in these genetically engineered plants and the residues left from spraying with the complementary herbicide. We have compared the opinion published by EFSA [1] with findings from other publications in the scientific literature. It is evident that there are several issues that EFSA did not consider in detail and which will need further assessment: (1) There are potential combinatorial effects between plant components and other impact factors that might enhance toxicity. (2) It is known that Bt toxins have immunogenic properties; since soybeans naturally contain many allergens, these immunogenic properties raise specific questions. (3) Fully evaluated and reliable protocols for measuring the Bt concentration in the plants are needed, in addition to a comprehensive set of data on gene expression under varying environmental conditions. (4) Specific attention should be paid to the herbicide residues and their interaction with Bt toxins. The case of the Intacta soybeans highlights several regulatory problems with Bt soybean plants in the EU. Moreover, many of the issues raised also concern other genetically engineered plants that express insecticidal proteins, or are engineered to be resistant to herbicides, or have those two types of traits combined in stacked events. It remains a matter of debate whether the standards currently applied by the risk assessor, EFSA, and the risk manager, the EU Commission, meet the standards

  20. The Cognitive Differences According to Regionality and Mathematical Minds

    Science.gov (United States)

    Park, Inchan; Igarashi, Hiroya; Yamanaka, Toshimasa

    The purpose of this research is to explore factors that create cognitive diversity. We studied two different ways of recognizing images in our preliminary experiment: attribute-oriented thoughts and relationship-oriented thoughts. We examined whether we could observe the divergences in recognition processes between Asian and European cultures. From the result, we found that European (Dutch and British) subjects had stronger tendencies in attribute-oriented thoughts than the Korean subjects. However, in spite of their regional similarity, the Japanese subjects had greater tendencies in attribute-oriented thoughts than Korean subjects when comparing two Asian countries. This result made us question if there would be any other factors that could create the cognitive differences. Through the consideration of the participants' educational background, we found a possibility that the mathematical thoughts of the European and Japanese subjects were greater than the Korean subjects. Furthermore, in our subsequent study, we discovered that mathematical minds (skill and interest) effected on creating attribute-oriented thoughts as factors. We found the interesting discovery of the Japanese male participants, who had different cognitive tendencies with their mathematical skills and interests; the male subjects who had high-leveled mathematical skills, and who liked mathematics showed stronger tendencies of Attribute-oriented thoughts than those who did not. Based on the result, a possibility was suggested that the Japanese males' strong mathematical minds might be one of the factors that create the cognitive difference between Japanese and Korean subjects in the preliminary experiment.

  1. Humanization of mathematics learning

    Directory of Open Access Journals (Sweden)

    Sandra Bayu Kurniawan

    2017-09-01

    Full Text Available The study concerned here was to describe (1 the characteristics of humanistic mathematics learning and (2 the stages to actualize such learning. The said study was a qualitative one employing the phenomenological approach with six stages of inductive analysis. The data were validated by using the data source triangulation technique. The study involved 75 students of an elementary school, SD Mangunan, Berbah, Sleman, 36 students of a state senior high school, SMA Negeri 1 of Sewon, Bantul, and 42 students of another state senior high school, SMA Negeri 1 of Dlingo, Bantul. The results of the validation showed that the data were valid and consistent. The conclusions of the study are as follows. (1 Humanistic mathematics learning is characterized by the facts that the use of the mathematics learning media gives students space and time to explore and construct mathematical concept understanding and mathematics learning methods are applied by using an inductive approach. (2 The stages to realize humanistic mathematics learning include the setting of mathematics learning objectives based on humanism, existentialism, and religious teachings by building individual students’ strengths through independent and civilized manners, the setting of mathematics learning goals emphasizing balance among the domains of idea, intention, and action, and the setting of the development of contextual and cooperative mathematics learning strategies. Keywords: humanization, mathematics learning

  2. Bernhard Riemann, a(rche)typical mathematical-physicist?

    Science.gov (United States)

    Elizalde, Emilio

    2013-09-01

    The work of Bernhard Riemann is discussed under the perspective of present day mathematics and physics, and with a prospective view towards the future, too. Against the (unfortunately rather widespread) trend---which predominantly dominated national scientific societies in Europe during the last Century---of strictly classifying the work of scientists with the aim to constrain them to separated domains of knowledge, without any possible interaction among those and often even fighting against each other (and which, no doubt, was in part responsible for the decline of European in favor of American science), it will be here argued, using Riemann as a model, archetypical example, that good research transcends any classification. Its uses and applications arguably permeate all domains, subjects and disciplines one can possibly define, to the point that it can be considered to be universally useful. After providing a very concise review of the main publications of Bernhard Riemann on physical problems, some connections between Riemann's papers and contemporary physics will be considered: (i) the uses of Riemann's work on the zeta function for devising applications to the regularization of quantum field theories in curved space-time, in particular, of quantum vacuum fluctuations; (ii) the uses of the Riemann tensor in general relativity and in recent generalizations of this theory, which aim at understanding the presently observed acceleration of the universe expansion (the dark energy issue). Finally, it will be argued that mathematical physics, which was yet not long ago a model paradigm for interdisciplinary activity---and had a very important pioneering role in this sense---is now quickly being surpassed by the extraordinarily fruitful interconnections which seem to pop up from nothing every day and simultaneously involve several disciplines, in the classical sense, including genetics, combinatorics, nanoelectronics, biochemistry, medicine, and even ps

  3. Computer Algebra and Dynamic Geometry Systems in Mathematics Education

    OpenAIRE

    Kllogjeri, Pellumb

    2014-01-01

    The rapid changes in computer and information technology, the increase of computer power available and the complexity of mathematical software (Maple, Mathematica, MatLab, MuPad and Derive) now accessible to the students cannot be ignored; at the very least it demands a radical re-think on the way in which topics in the curriculum could be presented and does have an impact on the teaching of Mathematics in most ofEuropean universities. Students require a personal knowledge of mathematics t...

  4. The synthesis paradigm in genetics.

    Science.gov (United States)

    Rice, William R

    2014-02-01

    Experimental genetics with model organisms and mathematically explicit genetic theory are generally considered to be the major paradigms by which progress in genetics is achieved. Here I argue that this view is incomplete and that pivotal advances in genetics--and other fields of biology--are also made by synthesizing disparate threads of extant information rather than generating new information from experiments or formal theory. Because of the explosive expansion of information in numerous "-omics" data banks, and the fragmentation of genetics into numerous subdisciplines, the importance of the synthesis paradigm will likely expand with time.

  5. Utility of computer simulations in landscape genetics

    Science.gov (United States)

    Bryan K. Epperson; Brad H. McRae; Kim Scribner; Samuel A. Cushman; Michael S. Rosenberg; Marie-Josee Fortin; Patrick M. A. James; Melanie Murphy; Stephanie Manel; Pierre Legendre; Mark R. T. Dale

    2010-01-01

    Population genetics theory is primarily based on mathematical models in which spatial complexity and temporal variability are largely ignored. In contrast, the field of landscape genetics expressly focuses on how population genetic processes are affected by complex spatial and temporal environmental heterogeneity. It is spatially explicit and relates patterns to...

  6. Open problems in mathematics

    CERN Document Server

    Nash, Jr, John Forbes

    2016-01-01

    The goal in putting together this unique compilation was to present the current status of the solutions to some of the most essential open problems in pure and applied mathematics. Emphasis is also given to problems in interdisciplinary research for which mathematics plays a key role. This volume comprises highly selected contributions by some of the most eminent mathematicians in the international mathematical community on longstanding problems in very active domains of mathematical research. A joint preface by the two volume editors is followed by a personal farewell to John F. Nash, Jr. written by Michael Th. Rassias. An introduction by Mikhail Gromov highlights some of Nash’s legendary mathematical achievements. The treatment in this book includes open problems in the following fields: algebraic geometry, number theory, analysis, discrete mathematics, PDEs, differential geometry, topology, K-theory, game theory, fluid mechanics, dynamical systems and ergodic theory, cryptography, theoretical computer sc...

  7. Mathematical Sciences Institute Workshop

    CERN Document Server

    Scott, Philip

    1990-01-01

    A so-called "effective" algorithm may require arbitrarily large finite amounts of time and space resources, and hence may not be practical in the real world. A "feasible" algorithm is one which only requires a limited amount of space and/or time for execution; the general idea is that a feasible algorithm is one which may be practical on today's or at least tomorrow's computers. There is no definitive analogue of Church's thesis giving a mathematical definition of feasibility; however, the most widely studied mathematical model of feasible computability is polynomial-time computability. Feasible Mathematics includes both the study of feasible computation from a mathematical and logical point of view and the reworking of traditional mathematics from the point of view of feasible computation. The diversity of Feasible Mathematics is illustrated by the. contents of this volume which includes papers on weak fragments of arithmetic, on higher type functionals, on bounded linear logic, on sub recursive definitions ...

  8. Ideation in mathematical writing

    DEFF Research Database (Denmark)

    Misfeldt, Morten

    2007-01-01

    This paper considers idea generation during the mathematical writing process. Two contrasting explanations of the creative potential in connection to writing is presented; writing as a process of setting and obtaining rhetorical goals and writing as a process of discovery. These views...... are then related to two empirically found categories of functions that writing serves researchers in the field of mathematics, concluding that both views contributes to understanding the creative potential in relation to mathematical writing....

  9. Optimization and Discrete Mathematics

    Science.gov (United States)

    2012-03-06

    Manager AFOSR/RSL Air Force Research Laboratory Optimization and Discrete Mathematics 6 Mar 2012 Report Documentation Page Form ApprovedOMB No...00-2012 to 00-00-2012 4. TITLE AND SUBTITLE Optimization and Discrete Mathematics 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT...distribution is unlimited.. Optimization and Discrete Mathematics PM: Don Hearn BRIEF DESCRIPTION OF PORTFOLIO: Development of

  10. Advances in mathematical economics

    CERN Document Server

    Maruyama, Toru

    2017-01-01

    The series is designed to bring together those mathematicians who are seriously interested in getting new challenging stimuli from economic theories with those economists who are seeking effective mathematical tools for their research. A lot of economic problems can be formulated as constrained optimizations and equilibration of their solutions. Various mathematical theories have been supplying economists with indispensable machineries for these problems arising in economic theory. Conversely, mathematicians have been stimulated by various mathematical difficulties raised by economic theories.

  11. Advances in mathematical economics

    CERN Document Server

    Maruyama, Toru

    2016-01-01

    The series is designed to bring together those mathematicians who are seriously interested in getting new challenging stimuli from economic theories with those economists who are seeking effective mathematical tools for their research. A lot of economic problems can be formulated as constrained optimizations and equilibration of their solutions. Various mathematical theories have been supplying economists with indispensable machineries for these problems arising in economic theory. Conversely, mathematicians have been stimulated by various mathematical difficulties raised by economic theories.

  12. International Mathematical Internet Olympiad

    Directory of Open Access Journals (Sweden)

    Alexander Domoshnitsky

    2012-10-01

    Full Text Available Modern Internet technologies open new possibilities in wide spectrum of traditional methods used in mathematical education. One of the areas, where these technologies can be efficiently used, is an organization of mathematical competitions. Contestants can stay at their schools or universities and try to solve as many mathematical problems as possible and then submit their solutions through Internet. Simple Internet technologies supply audio and video connection between participants and organizers.

  13. Advances in mathematical economics

    CERN Document Server

    Yamazaki, Akira

    2006-01-01

    A lot of economic problems can formulated as constrained optimizations and equilibration of their solutions. Various mathematical theories have been supplying economists with indispensable machineries for these problems arising in economic theory. Conversely, mathematicians have been stimulated by various mathematical difficulties raised by economic theories. The series is designed to bring together those mathematicians who were seriously interested in getting new challenging stimuli from economic theories with those economists who are seeking for effective mathematical tools for their researchers.

  14. Advances in mathematical economics

    CERN Document Server

    Yamazaki, Akira

    2006-01-01

    A lot of economic problems can formulated as constrained optimizations and equilibration of their solutions.Various mathematical theories have been supplying economists with indispensable machineries for these problems arising in economic theory. Conversely, mathematicians have been stimulated by various mathematical difficulties raised by economic theories. The series is designed to bring together those mathematicians who were seriously interested in getting new challenging stimuli from economic theories with those economists who are seeking for effective mathematical tools for their researchers.

  15. Learning Mathematics through Programming

    DEFF Research Database (Denmark)

    Misfeldt, Morten; Ejsing-Duun, Stine

    2015-01-01

    In this paper we explore the potentials for learning mathematics through programming by a combination of theoretically derived potentials and cases of practical pedagogical work. We propose a model with three interdependent learning potentials as programming which can: (1) help reframe the students...... to mathematics is paramount. Analyzing two cases, we suggest a number of ways in which didactical attention to epistemic mediation can support learning mathematics....

  16. Interactive Mathematics Textbooks

    DEFF Research Database (Denmark)

    Sinclair, Robert

    1999-01-01

    We claim that important considerations have been overlooked in designinginteractive mathematics educational software in the past.In particular,most previous work has concentrated on how to make use ofpre-existing software in mathematics education, rather than firstasking the more...... fundamentalquestion of which requirements mathematics education puts on software, and thendesigning software to fulfil these requirements.We present a working prototype system which takes a script defining an interactivemathematicaldocument and then provides a reader with an interactive realization of thatdocument....

  17. Educating mathematics teacher educators

    DEFF Research Database (Denmark)

    Højgaard, Tomas; Jankvist, Uffe Thomas

    2014-01-01

    The paper argues for a three-dimensional course design structure for future mathematics teacher educators. More precisely we describe the design and implementation of a course basing itself on: the two mathematical competencies of modelling and problem tackling, this being the first dimension......; the two mathematical topics of differential equations and stochastics, this being the second dimension; and finally a third dimension the purpose of which is to deepen the two others by means of a didactical perspective....

  18. Advances in mathematical economics

    CERN Document Server

    Maruyama, Toru

    2014-01-01

    A lot of economic problems can be formulated as constrained optimizations and equilibration of their solutions. Various mathematical theories have been supplying economists with indispensable machineries for these problems arising in economic theory. Conversely, mathematicians have been stimulated by various mathematical difficulties raised by economic theories. The series is designed to bring together those mathematicians who are seriously interested in getting new challenging stimuli from economic theories with those economists who are seeking effective mathematical tools for their research.

  19. Mathematics in Engineering

    OpenAIRE

    Chatterjee, Anindya

    2005-01-01

    I try to convey some of the variety and excitement involved in the application of mathematics to engineering problems; to provide a taste of some actual mathematical calculations that engineers do; and finally, to make clear the distinctions between the applied subject of engineering and its purer parents, which include mathematics and the physical sciences. Two main points of this article are that in engineering it is approximation, and not truth, that reigns; and that an engineer carries a ...

  20. Finite Mathematics and Discrete Mathematics: Is There a Difference?

    Science.gov (United States)

    Johnson, Marvin L.

    Discrete mathematics and finite mathematics differ in a number of ways. First, finite mathematics has a longer history and is therefore more stable in terms of course content. Finite mathematics courses emphasize certain particular mathematical tools which are useful in solving the problems of business and the social sciences. Discrete mathematics…