361 research outputs found

    A framework for research into continental ancestry groups of the UK Biobank

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    BACKGROUND: The UK Biobank is a large prospective cohort, based in the UK, that has deep phenotypic and genomic data on roughly a half a million individuals. Included in this resource are data on approximately 78,000 individuals with “non-white British ancestry.” While most epidemiology studies have focused predominantly on populations of European ancestry, there is an opportunity to contribute to the study of health and disease for a broader segment of the population by making use of the UK Biobank’s “non-white British ancestry” samples. Here, we present an empirical description of the continental ancestry and population structure among the individuals in this UK Biobank subset. RESULTS: Reference populations from the 1000 Genomes Project for Africa, Europe, East Asia, and South Asia were used to estimate ancestry for each individual. Those with at least 80% ancestry in one of these four continental ancestry groups were taken forward (N = 62,484). Principal component and K-means clustering analyses were used to identify and characterize population structure within each ancestry group. Of the approximately 78,000 individuals in the UK Biobank that are of “non-white British” ancestry, 50,685, 6653, 2782, and 2364 individuals were associated to the European, African, South Asian, and East Asian continental ancestry groups, respectively. Each continental ancestry group exhibits prominent population structure that is consistent with self-reported country of birth data and geography. CONCLUSIONS: Methods outlined here provide an avenue to leverage UK Biobank’s deeply phenotyped data allowing researchers to maximize its potential in the study of health and disease in individuals of non-white British ancestry. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40246-022-00380-5

    Evidence-Based Professional Development of Science Teachers in Two Countries

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    The focus of this collaborative research project of King?s College London, and the Weizmann Institute, Israel. project is on investigating the ways in which teachers can demonstrate accomplished teaching in a specific domain of science and on the teacher learning that is generated through continuing professional development programs (CPD) that lead towards such practice. The interest lies in what processes and inputs are required to help secondary school science teachers develop expertise in a specific aspect of science teaching. `It focuses on the design of the CPD programmes and examines the importance of an evidence-based approach through portfolioconstruction in which professional dialogue pathes the way for teacher learning. The set of papers highlight the need to set professional challenge while tailoring CPD to teachers? needs to create the environment in which teachers can advance and transform their practice. The cross-culture perspective added to the richness of the development and enabled the researchers to examine which aspects were fundamental to the design by considering similarities and differences between the domains

    A wider Europe? The view from Russia, Belarus and Ukraine

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    On the evidence of national surveys conducted between 2000 and 2006, there is a declining sense of European self-identity in the three Slavic post-Soviet republics of Russia, Belarus and Ukraine. Attitudes towards the European Union and the possibility of membership are broadly supportive, but with a substantial proportion who find it difficult to express a view, and substantial proportions are poorly informed in comparison with the general public in EU member or prospective member countries. Those who are better informed are more likely to favour EU membership and vice versa. Generally, socioeconomic characteristics (except for age and region) are relatively poor predictors of support for EU membership as compared with attitudinal variables. But ‘Europeanness’ should not be seen as a given, and much will depend on whether EU member countries emphasize what is common to east and west or establish ‘new dividing lines’ in place of those of the cold war

    Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias

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    Human ryanodine receptor 2 (hRyR2) mediates calcium release from the sarcoplasmic reticulum, enabling cardiomyocyte contraction. The N-terminal region of hRyR2 (amino acids 1–606) is the target of >30 arrhythmogenic mutations and contains a binding site for phosphoprotein phosphatase 1. Here, the solution and crystal structures determined under near-physiological conditions, as well as a homology model of the hRyR2 N-terminal region, are presented. The N-terminus is held together by a unique network of interactions among its three domains, A, B and C, in which the central helix (amino acids 410–437) plays a prominent stabilizing role. Importantly, the anion-binding site reported for the mouse RyR2 N-terminal region is notably absent from the human RyR2. The structure concurs with the differential stability of arrhythmogenic mutations in the central helix (R420W, I419F and I419F/R420W) which are owing to disparities in the propensity of mutated residues to form energetically favourable or unfavourable contacts. In solution, the N-terminus adopts a globular shape with a prominent tail that is likely to involve residues 545–606, which are unresolved in the crystal structure. Docking the N-terminal domains into cryo-electron microscopy maps of the closed and open RyR1 conformations reveals C atom movements of up to 8 A ° upon channel gating, and predicts the location of the leucine– isoleucine zipper segment and the interaction site for spinophilin and phosphoprotein phosphatase 1 on the RyR surface

    Climate, immigration and speciation shape terrestrial and aquatic biodiversity in the European Alps

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    Quaternary climate fluctuations can affect speciation in regional biodiversity assembly in two non-mutually exclusive ways: a glacial species pump, where isolation in glacial refugia accelerates allopatric speciation, and adaptive radiation in underused adaptive zones during ice-free periods. We detected biogeographic and genetic signatures associated with both mechanisms in the assembly of the biota of the European Alps. Age distributions of endemic and widespread species within aquatic and terrestrial taxa (amphipods, fishes, amphibians, butterflies and flowering plants) revealed that endemic fish evolved only in lakes, are highly sympatric, and mainly of Holocene age, consistent with adaptive radiation. Endemic amphipods are ancient, suggesting preglacial radiation with limited range expansion and local Pleistocene survival, perhaps facilitated by a groundwater-dwelling lifestyle. Terrestrial endemics are mostly of Pleistocene age and are thus more consistent with the glacial species pump. The lack of evidence for Holocene adaptive radiation in the terrestrial biome is consistent with faster recolonization through range expansion of these taxa after glacial retreats. More stable and less seasonal ecological conditions in lakes during the Holocene may also have contributed to Holocene speciation in lakes. The high proportion of young, endemic species makes the Alpine biota vulnerable to climate change, but the mechanisms and consequences of species loss will likely differ between biomes because of their distinct evolutionary histories

    Climate, immigration and speciation shape terrestrial and aquatic biodiversity in the European Alps.

    Get PDF
    Quaternary climate fluctuations can affect speciation in regional biodiversity assembly in two non-mutually exclusive ways: a glacial species pump, where isolation in glacial refugia accelerates allopatric speciation, and adaptive radiation in underused adaptive zones during ice-free periods. We detected biogeographic and genetic signatures associated with both mechanisms in the assembly of the biota of the European Alps. Age distributions of endemic and widespread species within aquatic and terrestrial taxa (amphipods, fishes, amphibians, butterflies and flowering plants) revealed that endemic fish evolved only in lakes, are highly sympatric, and mainly of Holocene age, consistent with adaptive radiation. Endemic amphipods are ancient, suggesting preglacial radiation with limited range expansion and local Pleistocene survival, perhaps facilitated by a groundwater-dwelling lifestyle. Terrestrial endemics are mostly of Pleistocene age and are thus more consistent with the glacial species pump. The lack of evidence for Holocene adaptive radiation in the terrestrial biome is consistent with faster recolonization through range expansion of these taxa after glacial retreats. More stable and less seasonal ecological conditions in lakes during the Holocene may also have contributed to Holocene speciation in lakes. The high proportion of young, endemic species makes the Alpine biota vulnerable to climate change, but the mechanisms and consequences of species loss will likely differ between biomes because of their distinct evolutionary histories

    The pedagogic beliefs of Indonesian teachers in inclusive schools

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    This research explores, for the first time, the pedagogical orientations of Indonesian teachers in the context of inclusive education. A mixed-method approach was used for an analysis of questionnaire data from 140 teachers and qualitative interviews from 20 teachers in four inclusive schools. The findings suggest that, in general, the implicit orientation of teachers is social constructivist. This orientation is also reflected in their reported classroom practices. Although less common, more directive pedagogical approaches appear to have an impact upon the flexibility of roles within two teacher inclusive classrooms. Whilst the number of disabled pupils within each class was a significant issue for interviewees, no pupils were deemed unteachable in their classrooms. Furthermore, what is described by the teachers as a “special pedagogy” typically entailed additional teaching time and modified assessments, and consequently could be framed as “good teaching for all”. The questionnaires also contained responses from student and special school teachers and support the view that teachers’ beliefs about inclusive pedagogy are mediated by experience and occupation
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