First Light of Engineered Diffusers at the Nordic Optical Telescope Reveal Time Variability in the Optical Eclipse Depth of WASP-12b

We present the characterization of two engineered diffusers mounted on the 2.5 meter Nordic Optical Telescope, located at Roque de Los Muchachos, Spain. To assess the reliability and the efficiency of the diffusers, we carried out several test observations of two photometric standard stars, along with observations of one primary transit observation of TrES-3b in the red (R-band), one of CoRoT-1b in the blue (B-band), and three secondary eclipses of WASP-12b in V-band. The achieved photometric precision is in all cases within the sub-millimagnitude level for exposures between 25 and 180 seconds. Along a detailed analysis of the functionality of the diffusers, we add a new transit depth measurement in the blue (B-band) to the already observed transmission spectrum of CoRoT-1b, disfavouring a Rayleigh slope. We also report variability of the eclipse depth of WASP-12b in the V-band. For the WASP-12b secondary eclipses, we observe a secondary-depth deviation of about 5-sigma, and a difference of 6-sigma and 2.5-sigma when compared to the values reported by other authors in similar wavelength range determined from Hubble Space Telescope data. We further speculate about the potential physical processes or causes responsible for this observed variabilityComment: 11 pages, 9 figure

Immune gene profiles in Atlantic salmon (salmo salar L.) post-smolts infected with SAV3 by bath-challenge show a delayed response and lower levels of gene transcription compared to injected fish

Acknowledgements This research was funded by the Research Council of Norway, Research grant # 224885/E40. The following people are thanked for their expert technical assistance and help during sampling; Ann Catherine Bårdsgjære Einen, Stig Mæhle, Ingrid Fiksdal and Miriam Castillo Furné. Thanks also to Ivar Helge Matre at Matre Research Station, IMR for the production of fish and Joachim Nordbø for fish husbandry and help with sampling. Øystein Evensen, Norwegian University of Life Sciences, is acknowledged for providing the SAV3 isolate.Peer reviewedPostprin

Atlantic salmon adapted to seawater for 9 weeks develop a robust immune response to salmonid alphavirus upon bath challenge

This research was funded by the Research Council of Norway. Research grant # 224885/E40. The following people are thanked for their expert technical assistance and help during sampling and analysis; Ann Catherine Einen Bårdsgjære, Stig Mæhle, Ingrid Fiksdal and Miriam Castillo Furné. Thanks also to Ivar Helge Matre (Matre Research Station, Institute for Marine Research) for production of fish and Joachim Nordbø for fish husbandry and help with sampling. Kai Ove Skaftnesmoe is thanked for the preparation of Fig. 6. Øystein Evensen, Norwegian University of Life Sciences, is acknowledged for providing the SAV3 isolate.Peer reviewedPostprin

Following the TraCS of exoplanets with Pan-Planets: Wendelstein-1b and Wendelstein-2b

Hot Jupiters seem to get rarer with decreasing stellar mass. The goal of the Pan-Planets transit survey was the detection of such planets and a statistical characterization of their frequency. Here, we announce the discovery and validation of two planets found in that survey, Wendelstein-1b and Wendelstein-2b, which are two short-period hot Jupiters that orbit late K host stars. We validated them both by the traditional method of radial velocity measurements with the HIgh Resolution Echelle Spectrometer and the Habitable-zone Planet Finder instruments and then by their Transit Color Signature (TraCS). We observed the targets in the wavelength range of 4000−24 000 Å and performed a simultaneous multiband transit fit and additionally determined their thermal emission via secondary eclipse observations. Wendelstein-1b is a hot Jupiter with a radius of 1.0314_(−0.0061)^(+0.0061) R_J and mass of 0.592_(−0.129)^(+0.0165) M_J, orbiting a K7V dwarf star at a period of 2.66 d, and has an estimated surface temperature of about 1727₋₉₀⁺⁷⁸ K. Wendelstein-2b is a hot Jupiter with a radius of 1.1592_(−0.0210)^(+0.0204) R_J and a mass of 0.731_(−0.311)^(+0.0541) M_J, orbiting a K6V dwarf star at a period of 1.75 d, and has an estimated surface temperature of about 1852₋₁₄₀⁺¹²⁰ K. With this, we demonstrate that multiband photometry is an effective way of validating transiting exoplanets, in particular for fainter targets since radial velocity follow-up becomes more and more costly for those targets

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesLynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000-2009. One-hundred and thirty-two (11.2%) tumours are mismatch repair deficient per immunohistochemistry. Twenty-one (1.8%) have Lynch syndrome while 106 (9.0%) have somatic hypermethylation or mutations in the mismatch repair genes. The population prevalence of Lynch syndrome is 0.442%. We discover a translocation disrupting MLH1 and three mutations in MSH6 and PMS2 that increase endometrial, colorectal, brain and ovarian cancer risk. We find thirteen mismatch repair variants of uncertain significance that are not associated with cancer risk. We find that founder mutations in MSH6 and PMS2 prevail in Iceland unlike most other populations.Ohio State University (OSU) Comprehensive Cancer Center OSU Colorectal Cancer Research fund Obrine-Weaver Fund Pelotonia Fellowship Award deCODE genetic

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist-hip ratio (WHR). We selected 26 SNPs for follow-up, for which the evidence of association with measures of central adiposity (WC and/or WHR) was strong and disproportionate to that for overall adiposity or height. Follow-up studies in a maximum of 70,689 individuals identified two loci strongly associated with measures of central adiposity; these map near TFAP2B (WC, P = 1.9x10(-11)) and MSRA (WC, P = 8.9x10(-9)). A third locus, near LYPLAL1, was associated with WHR in women only (P = 2.6x10(-8)). The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity/fat-mass, whereas LYPLAL1 displays a strong female-only association with fat distribution. By focusing on anthropometric measures of central obesity and fat distribution, we have identified three loci implicated in the regulation of human adiposity

TOI-150: A transiting hot Jupiter in the TESS southern CVZ

We report the detection of a hot Jupiter ($M_{p}=1.75_{-0.17}^{+0.14}\ M_{J}$,$R_{p}=1.38\pm0.04\ R_{J}$) orbiting a middle-aged star ($\log g=4.152^{+0.030}_{-0.043}$) in the Transiting Exoplanet Survey Satellite (TESS) southern continuous viewing zone ($\beta=-79.59^{\circ}$). We confirm the planetary nature of the candidate TOI-150.01 using radial velocity observations from the APOGEE-2 South spectrograph and the Carnegie Planet Finder Spectrograph, ground-based photometric observations from the robotic Three-hundred MilliMeter Telescope at Las Campanas Observatory, and Gaia distance estimates. Large-scale spectroscopic surveys, such as APOGEE/APOGEE-2, now have sufficient radial velocity precision to directly confirm the signature of giant exoplanets, making such data sets valuable tools in the TESS era. Continual monitoring of TOI-150 by TESS can reveal additional planets and subsequent observations can provide insights into planetary system architectures involving a hot Jupiter around a star about halfway through its main-sequence life.Comment: 13 pages, 3 figures, 2 tables, accepted to ApJ

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

A small number of rare, recurrent genomic copy number variants (CNVs) are known to substantially increase susceptibility to schizophrenia. As a consequence of the low fecundity in people with schizophrenia and other neurodevelopmental phenotypes to which these CNVs contribute, CNVs with large effects on risk are likely to be rapidly removed from the population by natural selection. Accordingly, such CNVs must frequently occur as recurrent de novo mutations. In a sample of 662 schizophrenia proband–parent trios, we found that rare de novo CNV mutations were significantly more frequent in cases (5.1% all cases, 5.5% family history negative) compared with 2.2% among 2623 controls, confirming the involvement of de novo CNVs in the pathogenesis of schizophrenia. Eight de novo CNVs occurred at four known schizophrenia loci (3q29, 15q11.2, 15q13.3 and 16p11.2). De novo CNVs of known pathogenic significance in other genomic disorders were also observed, including deletion at the TAR (thrombocytopenia absent radius) region on 1q21.1 and duplication at the WBS (Williams–Beuren syndrome) region at 7q11.23. Multiple de novos spanned genes encoding members of the DLG (discs large) family of membrane-associated guanylate kinases (MAGUKs) that are components of the postsynaptic density (PSD). Two de novos also affected EHMT1, a histone methyl transferase known to directly regulate DLG family members. Using a systems biology approach and merging novel CNV and proteomics data sets, systematic analysis of synaptic protein complexes showed that, compared with control CNVs, case de novos were significantly enriched for the PSD proteome (P=1.72 × 10−6). This was largely explained by enrichment for members of the N-methyl-D-aspartate receptor (NMDAR) (P=4.24 × 10−6) and neuronal activity-regulated cytoskeleton-associated protein (ARC) (P=3.78 × 10−8) postsynaptic signalling complexes. In an analysis of 18 492 subjects (7907 cases and 10 585 controls), case CNVs were enriched for members of the NMDAR complex (P=0.0015) but not ARC (P=0.14). Our data indicate that defects in NMDAR postsynaptic signalling and, possibly, ARC complexes, which are known to be important in synaptic plasticity and cognition, play a significant role in the pathogenesis of schizophrenia

Genetic variability in the absorption of dietary sterols affects the risk of coronary artery disease

AIMS: To explore whether variability in dietary cholesterol and phytosterol absorption impacts the risk of coronary artery disease (CAD) using as instruments sequence variants in the ABCG5/8 genes, key regulators of intestinal absorption of dietary sterols. METHODS AND RESULTS: We examined the effects of ABCG5/8 variants on non-high-density lipoprotein (non-HDL) cholesterol (N up to 610 532) and phytosterol levels (N = 3039) and the risk of CAD in Iceland, Denmark, and the UK Biobank (105 490 cases and 844 025 controls). We used genetic scores for non-HDL cholesterol to determine whether ABCG5/8 variants confer greater risk of CAD than predicted by their effect on non-HDL cholesterol. We identified nine rare ABCG5/8 coding variants with substantial impact on non-HDL cholesterol. Carriers have elevated phytosterol levels and are at increased risk of CAD. Consistent with impact on ABCG5/8 transporter function in hepatocytes, eight rare ABCG5/8 variants associate with gallstones. A genetic score of ABCG5/8 variants predicting 1 mmol/L increase in non-HDL cholesterol associates with two-fold increase in CAD risk [odds ratio (OR) = 2.01, 95% confidence interval (CI) 1.75-2.31, P = 9.8 × 10-23] compared with a 54% increase in CAD risk (OR = 1.54, 95% CI 1.49-1.59, P = 1.1 × 10-154) associated with a score of other non-HDL cholesterol variants predicting the same increase in non-HDL cholesterol (P for difference in effects = 2.4 × 10-4). CONCLUSIONS: Genetic variation in cholesterol absorption affects levels of circulating non-HDL cholesterol and risk of CAD. Our results indicate that both dietary cholesterol and phytosterols contribute directly to atherogenesis