Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; The NHLBI Family Heart Study

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Fin-Tail Coordination during Escape and Predatory Behavior in Larval Zebrafish

Larval zebrafish innately perform a suite of behaviors that are tightly linked to their evolutionary past, notably escape from threatening stimuli and pursuit and capture of prey. These behaviors have been carefully examined in the past, but mostly with regard to the movements of the trunk and tail of the larvae. Here, we employ kinematics analyses to describe the movements of the pectoral fins during escape and predatory behavior. In accord with previous studies, we find roles for the pectoral fins in slow swimming and immediately after striking prey. We find novel roles for the pectoral fins in long-latency, but not in short-latency C-bends. We also observe fin movements that occur during orienting J-turns and S-starts that drive high-velocity predatory strikes. Finally, we find that the use of pectoral fins following a predatory strike is scaled to the velocity of the strike, supporting a role for the fins in braking. The implications of these results for central control of coordinated movements are discussed, and we hope that these results will provide baselines for future analyses of cross-body coordination using mutants, morphants, and transgenic approaches

ccdc80-l1 Is Involved in Axon Pathfinding of Zebrafish Motoneurons

Axon pathfinding is a subfield of neural development by which neurons send out axons to reach the correct targets. In particular, motoneurons extend their axons toward skeletal muscles, leading to spontaneous motor activity. In this study, we identified the zebrafish Ccdc80 and Ccdc80-like1 (Ccdc80-l1) proteins in silico on the basis of their high aminoacidic sequence identity with the human CCDC80 (Coiled-Coil Domain Containing 80). We focused on ccdc80-l1 gene that is expressed in nervous and non-nervous tissues, in particular in territories correlated with axonal migration, such as adaxial cells and muscle pioneers. Loss of ccdc80-l1 in zebrafish embryos induced motility issues, although somitogenesis and myogenesis were not impaired. Our results strongly suggest that ccdc80-l1 is involved in axon guidance of primary and secondary motoneurons populations, but not in their proper formation. ccdc80-l1 has a differential role as regards the development of ventral and dorsal motoneurons, and this is consistent with the asymmetric distribution of the transcript. The axonal migration defects observed in ccdc80-l1 loss-of-function embryos are similar to the phenotype of several mutants with altered Hedgehog activity. Indeed, we reported that ccdc80-l1 expression is positively regulated by the Hedgehog pathway in adaxial cells and muscle pioneers. These findings strongly indicate ccdc80-l1 as a down-stream effector of the Hedgehog pathway

First Large-Scale DNA Barcoding Assessment of Reptiles in the Biodiversity Hotspot of Madagascar, Based on Newly Designed COI Primers

BACKGROUND: DNA barcoding of non-avian reptiles based on the cytochrome oxidase subunit I (COI) gene is still in a very early stage, mainly due to technical problems. Using a newly developed set of reptile-specific primers for COI we present the first comprehensive study targeting the entire reptile fauna of the fourth-largest island in the world, the biodiversity hotspot of Madagascar. METHODOLOGY/PRINCIPAL FINDINGS: Representatives of the majority of Madagascan non-avian reptile species (including Squamata and Testudines) were sampled and successfully DNA barcoded. The new primer pair achieved a constantly high success rate (72.7-100%) for most squamates. More than 250 species of reptiles (out of the 393 described ones; representing around 64% of the known diversity of species) were barcoded. The average interspecific genetic distance within families ranged from a low of 13.4% in the Boidae to a high of 29.8% in the Gekkonidae. Using the average genetic divergence between sister species as a threshold, 41-48 new candidate (undescribed) species were identified. Simulations were used to evaluate the performance of DNA barcoding as a function of completeness of taxon sampling and fragment length. Compared with available multi-gene phylogenies, DNA barcoding correctly assigned most samples to species, genus and family with high confidence and the analysis of fewer taxa resulted in an increased number of well supported lineages. Shorter marker-lengths generally decreased the number of well supported nodes, but even mini-barcodes of 100 bp correctly assigned many samples to genus and family. CONCLUSIONS/SIGNIFICANCE: The new protocols might help to promote DNA barcoding of reptiles and the established library of reference DNA barcodes will facilitate the molecular identification of Madagascan reptiles. Our results might be useful to easily recognize undescribed diversity (i.e. novel taxa), to resolve taxonomic problems, and to monitor the international pet trade without specialized expert knowledge

Search for pair production of heavy vector-like quarks decaying into high-pT W bosons and top quarks in the lepton-plus-jets final state in pp collisions at √s = 13 TeV with the ATLAS detector

A search is presented for the pair production of heavy vector-like B quarks, primarily targeting B quark decays into a W boson and a top quark. The search is based on 36.1 fb −1 of pp collisions at √s = 13 TeV recorded in 2015 and 2016 with the ATLAS detector at the CERN Large Hadron Collider. Data are analysed in the lepton-plus-jets final state, characterised by a high-transverse-momentum isolated electron or muon, large missing transverse momentum, and multiple jets, of which at least one is b -tagged. No significant deviation from the Standard Model expectation is observed. The 95% confidence level lower limit on the B mass is 1350 GeV assuming a 100% branching ratio to Wt. In the SU(2) singlet scenario, the lower mass limit is 1170 GeV. This search is also sensitive to a heavy vector-like B quark decaying into other final states (Zb and Hb ) and thus mass limits on B production are set as a function of the decay branching ratios. The 100% branching ratio limits are found to be also applicable to heavy vector-like X production, with charge +5/3, that decay into Wt

Measurements of b-jet tagging efficiency with the ATLAS detector using tt ¯ events at √s =13 TeV

The efficiency to identify jets containing b -hadrons (b -jets) is measured using a high purity sample of dileptonic top quark-antiquark pairs (tt ¯ ) selected from the 36.1 fb −1 of data collected by the ATLAS detector in 2015 and 2016 from proton-proton collisions produced by the Large Hadron Collider at a centre-of-mass energy s √ =13 TeV. Two methods are used to extract the efficiency from tt ¯ events, a combinatorial likelihood approach and a tag-and-probe method. A boosted decision tree, not using b -tagging information, is used to select events in which two b -jets are present, which reduces the dominant uncertainty in the modelling of the flavour of the jets. The efficiency is extracted for jets in a transverse momentum range from 20 to 300 GeV, with data-to-simulation scale factors calculated by comparing the efficiency measured using collision data to that predicted by the simulation. The two methods give compatible results, and achieve a similar level of precision, measuring data-to-simulation scale factors close to unity with uncertainties ranging from 2% to 12% depending on the jet transverse momentum

Pan-cancer analysis of whole genomes

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe

Measurement of colour flow using jet-pull observables in in t(t)over-bar events with the ATLAS experiment at root s=13TeV

Previous studies have shown that weighted angular moments derived from jet constituents encode the colour connections between partons that seed the jets. This paper presents measurements of two such distributions, the jet-pull angle and jet-pull magnitude, both of which are derived from the jet-pull angular moment. The measurement is performed in tt¯ events with one leptonically decaying W boson and one hadronically decaying W boson, using 36.1fb−1 of pp collision data recorded by the ATLAS detector at s√=13TeV delivered by the Large Hadron Collider. The observables are measured for two dijet systems, corresponding to the colour-connected daughters of the W boson and the two b-jets from the top-quark decays, which are not expected to be colour connected. To allow the comparison of the measured distributions to colour model predictions, the measured distributions are unfolded to particle level, after correcting for experimental effects introduced by the detector. While good agreement can be found for some combinations of predictions and observables, none of the predictions describes the data well across all observables