65 research outputs found

    Classification and nomenclature of all human homeobox genes

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    <p>Abstract</p> <p>Background</p> <p>The homeobox genes are a large and diverse group of genes, many of which play important roles in the embryonic development of animals. Increasingly, homeobox genes are being compared between genomes in an attempt to understand the evolution of animal development. Despite their importance, the full diversity of human homeobox genes has not previously been described.</p> <p>Results</p> <p>We have identified all homeobox genes and pseudogenes in the euchromatic regions of the human genome, finding many unannotated, incorrectly annotated, unnamed, misnamed or misclassified genes and pseudogenes. We describe 300 human homeobox loci, which we divide into 235 probable functional genes and 65 probable pseudogenes. These totals include 3 genes with partial homeoboxes and 13 pseudogenes that lack homeoboxes but are clearly derived from homeobox genes. These figures exclude the repetitive <it>DUX1 </it>to <it>DUX5 </it>homeobox sequences of which we identified 35 probable pseudogenes, with many more expected in heterochromatic regions. Nomenclature is established for approximately 40 formerly unnamed loci, reflecting their evolutionary relationships to other loci in human and other species, and nomenclature revisions are proposed for around 30 other loci. We use a classification that recognizes 11 homeobox gene 'classes' subdivided into 102 homeobox gene 'families'.</p> <p>Conclusion</p> <p>We have conducted a comprehensive survey of homeobox genes and pseudogenes in the human genome, described many new loci, and revised the classification and nomenclature of homeobox genes. The classification scheme may be widely applicable to homeobox genes in other animal genomes and will facilitate comparative genomics of this important gene superclass.</p

    Review of Particle Physics

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    The Review summarizes much of particle physics and cosmology. Using data from previous editions, plus 2,143 new measurements from 709 papers, we list, evaluate, and average measured properties of gauge bosons and the recently discovered Higgs boson, leptons, quarks, mesons, and baryons. We summarize searches for hypothetical particles such as supersymmetric particles, heavy bosons, axions, dark photons, etc. Particle properties and search limits are listed in Summary Tables. We give numerous tables, figures, formulae, and reviews of topics such as Higgs Boson Physics, Supersymmetry, Grand Unified Theories, Neutrino Mixing, Dark Energy, Dark Matter, Cosmology, Particle Detectors, Colliders, Probability and Statistics. Among the 120 reviews are many that are new or heavily revised, including a new review on Machine Learning, and one on Spectroscopy of Light Meson Resonances. The Review is divided into two volumes. Volume 1 includes the Summary Tables and 97 review articles. Volume 2 consists of the Particle Listings and contains also 23 reviews that address specific aspects of the data presented in the Listings. The complete Review (both volumes) is published online on the website of the Particle Data Group (pdg.lbl.gov) and in a journal. Volume 1 is available in print as the PDG Book. A Particle Physics Booklet with the Summary Tables and essential tables, figures, and equations from selected review articles is available in print, as a web version optimized for use on phones, and as an Android app

    The management of acute venous thromboembolism in clinical practice. Results from the European PREFER in VTE Registry

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    Venous thromboembolism (VTE) is a significant cause of morbidity and mortality in Europe. Data from real-world registries are necessary, as clinical trials do not represent the full spectrum of VTE patients seen in clinical practice. We aimed to document the epidemiology, management and outcomes of VTE using data from a large, observational database. PREFER in VTE was an international, non-interventional disease registry conducted between January 2013 and July 2015 in primary and secondary care across seven European countries. Consecutive patients with acute VTE were documented and followed up over 12 months. PREFER in VTE included 3,455 patients with a mean age of 60.8 ± 17.0 years. Overall, 53.0 % were male. The majority of patients were assessed in the hospital setting as inpatients or outpatients (78.5 %). The diagnosis was deep-vein thrombosis (DVT) in 59.5 % and pulmonary embolism (PE) in 40.5 %. The most common comorbidities were the various types of cardiovascular disease (excluding hypertension; 45.5 %), hypertension (42.3 %) and dyslipidaemia (21.1 %). Following the index VTE, a large proportion of patients received initial therapy with heparin (73.2 %), almost half received a vitamin K antagonist (48.7 %) and nearly a quarter received a DOAC (24.5 %). Almost a quarter of all presentations were for recurrent VTE, with &gt;80 % of previous episodes having occurred more than 12 months prior to baseline. In conclusion, PREFER in VTE has provided contemporary insights into VTE patients and their real-world management, including their baseline characteristics, risk factors, disease history, symptoms and signs, initial therapy and outcomes

    EMT and stemness: flexible processes tuned by alternative splicing in development and cancer progression

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    Congo River's Grand Inga hydroelectricity scheme: linking environmental history, policy and impact

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    The idea of using the second largest river on earth - Africa's Congo - for electricity production has existed for over 100 years. Plans first proposed in 1928 were more fully explored during the European (and colonial) post-World War II industrial expansion. The idea of diverting the entire Lower Congo through electricity generators, Grand Inga was embraced by Apartheid South Africa, the Arab Republic of Egypt, and nations of post-Apartheid southern Africa. In the twenty-first century, as Europe seeks to mitigate carbon emissions, non-carbon producing electricity generation is defined as 'green' and 'renewable'. The Inga Falls on the Lower Congo River are again attracting attention. This perception of Grand Inga as a saviour of European economies is not new. For centuries, Europeans have viewed Africa as a source of raw materials for economic expansion. With the advent of electrical power and its generation by flowing water, African rivers entered the domain of European extractive relations. Moreover, the trivialization of potential environmental harm that hydro-power development could cause is not new. Rivers across the continent have been dammed in the name of 'development', benefiting elites and international corporations with scant regard for environmental consequences. Plans for a massive Grand Inga Dam were replaced by studies of a Grand Inga Cascades in 2009 when engineers recognized catastrophic local consequences. Grand Inga is eligible for finance under Kyoto as a renewable technology. This designation was surely made without consideration of the river's geomorphology, function and biogeochemistry as major constituents of the tropical Atlantic Ocean. This is because the Congo - and its influence - do not stop at its coastal mouth. A vast submarine canyon extending 730 km from the coast and ending in a 300,000 sq.km. fan on the ocean floor serves as a major conduit of terrestrial minerals and carbon to the deep sea. On the surface, the river's plume has been detected 800 km offshore. Accumulating marine evidence indicates the Congo's significant influence on the equatorial Atlantic ocean, which, in turn, is central to many climate change models. Analysis of the development of electricity, its infrastructure and policies at a continental scale articulates the global political economic context of Grand Inga's long environmental history, while environmental impact analysis at an Atlantic Basin, rather than at strictly local scale, indicates potentially serious global consequences

    A Comparison of the Crystal Structures of Eukaryotic and Bacterial SSU Ribosomal RNAs Reveals Common Structural Features in the Hypervariable Regions

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    While the majority of the ribosomal RNA structure is conserved in the three major domains of life – archaea, bacteria, and eukaryotes, specific regions of the rRNA structure are unique to at least one of these three primary forms of life. In particular, the comparative secondary structure for the eukaryotic SSU rRNA contains several regions that are different from the analogous regions in the bacteria. Our detailed analysis of two recently determined eukaryotic 40S ribosomal crystal structures, Tetrahymena thermophila and Saccharomyces cerevisiae, and the comparison of these results with the bacterial Thermus thermophilus 30S ribosomal crystal structure: (1) revealed that the vast majority of the comparative structure model for the eukaryotic SSU rRNA is substantiated, including the secondary structure that is similar to both bacteria and archaea as well as specific for the eukaryotes, (2) resolved the secondary structure for regions of the eukaryotic SSU rRNA that were not determined with comparative methods, (3) identified eukaryotic helices that are equivalent to the bacterial helices in several of the hypervariable regions, (4) revealed that, while the coaxially stacked compound helix in the 540 region in the central domain maintains the constant length of 10 base pairs, its two constituent helices contain 5+5 bp rather than the 6+4 bp predicted with comparative analysis of archaeal and eukaryotic SSU rRNAs.This work was supported by grants from the National Institutes of Health (R01GM067317) and the Welch Foundation (F-1427). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.Center for Computational Biology and Bioinformatic
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