4-amino-1-(2-deoxy-beta-D-ribofuranosyl)-6,7-dihydro-1H,5H-cyclopentapyrimidine-2-one

The crystal structure of C12H17N304 has been determined. This modified base is in a syn conformation with respect to the deoxyribose sugar, which adopts a distorted C3'/04'-endo pucker

Assessing the Effects of Banana Pingers as a Bycatch Mitigation Device for Harbour Porpoises (Phocoena phocoena)

This is the final version. Available on open access from Frontiers Media via the DOI in this recordData Availability Statement: The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation, to any qualified researcher.Bycatch is a significant cause of population declines of marine megafauna globally. While numerous bycatch mitigation strategies exist, acoustic alarms, or pingers, are the most widely adopted strategy for small cetaceans. Although pingers have been shown to be an effective measure for numerous species, there are some concerns about their long-term use. Bycatch is recognized as a persistent problem in waters around Cornwall, United Kingdom, where several cetacean species are resident, with harbour porpoises (Phocoena phocoena) being the most-commonly sighted. In this study, we assessed the effects of a Banana Pinger (Fishtek Marine Limited) on harbour porpoises in Cornwall between August 2012 and March 2013. Two passive acoustic loggers (C-PODs; Chelonia Limited) were deployed 100 m apart to record cetacean activity during cycles of active and inactive pinger periods. Harbour porpoises were 37% less likely to be detected at the C-POD near the pinger when the pinger was active, while they were only 9% less likely to be detected 100 m further away. The effect of the pinger was constant over the study period at both C-PODs despite the temporal variation in harbour porpoise detections. In addition, we found no evidence of reduced pinger effect with changing environmental conditions. Furthermore, harbour porpoise detections at the C-POD near the pinger did not depend on the time elapsed since the pinger turned off, with harbour porpoises returning to the ensonified area with no delay. Together these results suggest that (1) harbour porpoises did not habituate to the pinger over an 8-month period, (2) the pinger effect is very localized, and (3) pinger use did not lead to harbour porpoise displacement over the study period, suggesting an absence of long-term behavioral effects. We suggest that the deployment of pingers on fishing nets would likely reduce net-porpoise interactions, thereby mitigating bycatch of harbour porpoises and potentially other cetacean species. As the small-scale fishery dominates in United Kingdom waters, there is an acute need for cost-effective mitigation strategies with concurrent monitoring to be implemented rapidly in order to address the problem of harbour porpoise, and more generally, cetacean bycatch.Whale and Dolphin ConservationFishtek Marine Limite

Genome-Wide Analysis of Human Disease Alleles Reveals That Their Locations Are Correlated in Paralogous Proteins

The millions of mutations and polymorphisms that occur in human populations are potential predictors of disease, of our reactions to drugs, of predisposition to microbial infections, and of age-related conditions such as impaired brain and cardiovascular functions. However, predicting the phenotypic consequences and eventual clinical significance of a sequence variant is not an easy task. Computational approaches have found perturbation of conserved amino acids to be a useful criterion for identifying variants likely to have phenotypic consequences. To our knowledge, however, no study to date has explored the potential of variants that occur at homologous positions within paralogous human proteins as a means of identifying polymorphisms with likely phenotypic consequences. In order to investigate the potential of this approach, we have assembled a unique collection of known disease-causing variants from OMIM and the Human Genome Mutation Database (HGMD) and used them to identify and characterize pairs of sequence variants that occur at homologous positions within paralogous human proteins. Our analyses demonstrate that the locations of variants are correlated in paralogous proteins. Moreover, if one member of a variant-pair is disease-causing, its partner is likely to be disease-causing as well. Thus, information about variant-pairs can be used to identify potentially disease-causing variants, extend existing procedures for polymorphism prioritization, and provide a suite of candidates for further diagnostic and therapeutic purposes

Bioavailability in soils

The consumption of locally-produced vegetables by humans may be an important exposure pathway for soil contaminants in many urban settings and for agricultural land use. Hence, prediction of metal and metalloid uptake by vegetables from contaminated soils is an important part of the Human Health Risk Assessment procedure. The behaviour of metals (cadmium, chromium, cobalt, copper, mercury, molybdenum, nickel, lead and zinc) and metalloids (arsenic, boron and selenium) in contaminated soils depends to a large extent on the intrinsic charge, valence and speciation of the contaminant ion, and soil properties such as pH, redox status and contents of clay and/or organic matter. However, chemistry and behaviour of the contaminant in soil alone cannot predict soil-to-plant transfer. Root uptake, root selectivity, ion interactions, rhizosphere processes, leaf uptake from the atmosphere, and plant partitioning are important processes that ultimately govern the accumulation ofmetals and metalloids in edible vegetable tissues. Mechanistic models to accurately describe all these processes have not yet been developed, let alone validated under field conditions. Hence, to estimate risks by vegetable consumption, empirical models have been used to correlate concentrations of metals and metalloids in contaminated soils, soil physico-chemical characteristics, and concentrations of elements in vegetable tissues. These models should only be used within the bounds of their calibration, and often need to be re-calibrated or validated using local soil and environmental conditions on a regional or site-specific basis.Mike J. McLaughlin, Erik Smolders, Fien Degryse, and Rene Rietr

Asteroseismology and Interferometry

Asteroseismology provides us with a unique opportunity to improve our understanding of stellar structure and evolution. Recent developments, including the first systematic studies of solar-like pulsators, have boosted the impact of this field of research within Astrophysics and have led to a significant increase in the size of the research community. In the present paper we start by reviewing the basic observational and theoretical properties of classical and solar-like pulsators and present results from some of the most recent and outstanding studies of these stars. We centre our review on those classes of pulsators for which interferometric studies are expected to provide a significant input. We discuss current limitations to asteroseismic studies, including difficulties in mode identification and in the accurate determination of global parameters of pulsating stars, and, after a brief review of those aspects of interferometry that are most relevant in this context, anticipate how interferometric observations may contribute to overcome these limitations. Moreover, we present results of recent pilot studies of pulsating stars involving both asteroseismic and interferometric constraints and look into the future, summarizing ongoing efforts concerning the development of future instruments and satellite missions which are expected to have an impact in this field of research.Comment: Version as published in The Astronomy and Astrophysics Review, Volume 14, Issue 3-4, pp. 217-36

A review of elliptical and disc galaxy structure, and modern scaling laws

A century ago, in 1911 and 1913, Plummer and then Reynolds introduced their models to describe the radial distribution of stars in `nebulae'. This article reviews the progress since then, providing both an historical perspective and a contemporary review of the stellar structure of bulges, discs and elliptical galaxies. The quantification of galaxy nuclei, such as central mass deficits and excess nuclear light, plus the structure of dark matter halos and cD galaxy envelopes, are discussed. Issues pertaining to spiral galaxies including dust, bulge-to-disc ratios, bulgeless galaxies, bars and the identification of pseudobulges are also reviewed. An array of modern scaling relations involving sizes, luminosities, surface brightnesses and stellar concentrations are presented, many of which are shown to be curved. These 'redshift zero' relations not only quantify the behavior and nature of galaxies in the Universe today, but are the modern benchmark for evolutionary studies of galaxies, whether based on observations, N-body-simulations or semi-analytical modelling. For example, it is shown that some of the recently discovered compact elliptical galaxies at 1.5 < z < 2.5 may be the bulges of modern disc galaxies.Comment: Condensed version (due to Contract) of an invited review article to appear in "Planets, Stars and Stellar Systems"(www.springer.com/astronomy/book/978-90-481-8818-5). 500+ references incl. many somewhat forgotten, pioneer papers. Original submission to Springer: 07-June-201

Learning Analytics in Serious Gaming: Uncovering the Hidden Treasury of Game Log Files

This paper presents an exploratory analysis of existing log files of the VIBOA environmental policy games at Utrecht University. For reasons of statistical power we’ve combined student cohorts 2008, 2009, 2010, and 2011, which led to a sample size of 118 students. The VIBOA games are inquiry-based games, which offer a lot of freedom of movement. Our premise is that this freedom of movement is accompanied by behavioural variability across individuals, which may influence the efficiency of learning. Descriptive statistics of our sample revealed such variability of diverse game parameters. We have identified “switching behaviour”, defined as the number of game objects (videos, resources, locations) accessed per unit time, as a relevant behavioural pattern. Multiple regression analysis showed that switching rates of videos and locations explain 54 % of the variance of learning efficiency (defined as final score per unit time). Both the model and the model coefficients were significant beyond the 0.001 level. The same switching variables also account for 45% of the variance of total time spent T. Predictive models of final score weren’t found. We conclude the paper by critically evaluating our findings, making explicit the limitations of our study and making suggestions for future research that links learning analytics and serious gaming

Longer First Introns Are a General Property of Eukaryotic Gene Structure

While many properties of eukaryotic gene structure are well characterized, differences in the form and function of introns that occur at different positions within a transcript are less well understood. In particular, the dynamics of intron length variation with respect to intron position has received relatively little attention. This study analyzes all available data on intron lengths in GenBank and finds a significant trend of increased length in first introns throughout a wide range of species. This trend was found to be even stronger when using high-confidence gene annotation data for three model organisms (Arabidopsis thaliana, Caenorhabditis elegans, and Drosophila melanogaster) which show that the first intron in the 5′ UTR is - on average - significantly longer than all downstream introns within a gene. A partial explanation for increased first intron length in A. thaliana is suggested by the increased frequency of certain motifs that are present in first introns. The phenomenon of longer first introns can potentially be used to improve gene prediction software and also to detect errors in existing gene annotations

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease

<p>Abstract</p> <p>Background</p> <p>Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease with an incidence of 1 in 400 to 1000. The disease is genetically heterogeneous, with two genes identified: <it>PKD1 </it>(16p13.3) and <it>PKD2 </it>(4q21). Molecular diagnosis of the disease in at-risk individuals is complicated due to the structural complexity of <it>PKD1 </it>gene and the high diversity of the mutations. This study is the first systematic ADPKD mutation analysis of both <it>PKD1 </it>and <it>PKD2 </it>genes in Chinese patients using denaturing high-performance liquid chromatography (DHPLC).</p> <p>Methods</p> <p>Both <it>PKD1 </it>and <it>PKD2 </it>genes were mutation screened in each proband from 65 families using DHPLC followed by DNA sequencing. Novel variations found in the probands were checked in their family members available and 100 unrelated normal controls. Then the pathogenic potential of the variations of unknown significance was examined by evolutionary comparison, effects of amino acid substitutions on protein structure, and effects of splice site alterations using online mutation prediction resources.</p> <p>Results</p> <p>A total of 92 variations were identified, including 27 reported previously. Definitely pathogenic mutations (ten frameshift, ten nonsense, two splicing defects and one duplication) were identified in 28 families, and probably pathogenic mutations were found in an additional six families, giving a total detection level of 52.3% (34/65). About 69% (20/29) of the mutations are first reported with a recurrent mutation rate of 31%.</p> <p>Conclusions</p> <p>Mutation study of <it>PKD1 </it>and <it>PKD2 </it>genes in Chinese Hans with ADPKD may contribute to a better understanding of the genetic diversity between different ethnic groups and enrich the mutation database. Besides, evaluating the pathogenic potential of novel variations should also facilitate the clinical diagnosis and genetic counseling of the disease.</p