DICER1 Syndrome: \u3cem\u3eDICER1\u3c/em\u3e Mutations in Rare Cancers

DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types. Through mutations of the gene encoding the endoribonuclease, Dicer, DICER1 syndrome disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. Since the first description of DICER1 syndrome, case reports have documented novel germline mutations of the DICER1 gene in patients with cancers as well as second site mutations that alter the function of the Dicer protein expressed. Here, we present a review of mutations in the DICER1 gene, the respective protein sequence changes, and clinical manifestations of DICER1 syndrome. Directions for future research are discussed

Aqueous- and solid-phase molybdenum geochemistry of oil sands fluid petroleum coke deposits, Alberta, Canada

Copyright © 2018 Elsevier Ltd. All rights reserved.Funding was provided by the Natural Sciences and Engineering Research Council of Canada (NSERC) and Syncrude Canada Ltd. through the NSERC Industrial Research Chairs program (Grant No. IRCPJ-450684-13). A portion of the research described in this paper was performed at the Canadian Light Source, which is supported by the Canada Foundation for Innovation, NSERC, the University of Saskatchewan, the Government of Saskatchewan, Western Economic Diversification Canada, the National Research Council Canada, and the Canadian Institutes of Health Research.Peer ReviewedFluid petroleum coke generated at oil sands operations in the Athabasca Oil Sands Region of northern Alberta, Canada, contains elevated concentrations of molybdenum (Mo) and other metals including nickel (Ni) and vanadium (V). Solid-phase Mo concentrations in fluid petroleum coke are typically 10 to 100 times lower than V and Ni, yet dissolved Mo concentrations in associated pore waters are often comparable with these metals. We collected pore water and solids from fluid petroleum coke deposits in the AOSR to examine geochemical controls on Mo mobility. Dissolved Mo concentrations increased with depth below the water table, reaching maxima of 1.4 to 2.2 mg L-1, within a mixing zone between slightly acidic and oxic meteoric water and mildly alkaline and anoxic oil sands process-affected water (OSPW). Dissolved Mo concentrations decreased slightly with depth below the mixing zone. X-ray absorption spectroscopy revealed that Mo(VI) and Mo(IV) species were present in coke solids. The Mo(VI) occurred as tetrahedrally coordinated MoO42- adsorbed via inner- and outer-sphere complexation, and was coordinated in an environment similar to Fe-(hydr)oxide surface complexes. The OSPW likely promoted desorption of outer-sphere Mo(VI) complexes, resulting in higher dissolved Mo concentrations in the mixing zone. The principal Mo(IV) species was MoS2, which originated as a catalyst added upstream of the fluid coking process. Although MoS2 is likely stable under anoxic conditions below the mixing zone, oxidative weathering in the presence of meteoric water may promote long-term Mo release

Penetrating spinal injury with wooden fragments causing cauda equina syndrome: case report and literature review

Study design: Case report Objective: To report an unusual case of cauda equina syndrome following penetrating injury to the lumbar spine by wooden fragments and to stress the importance of early magnetic resonance imaging (MRI) in similar cases. Summary of background data: A 22-year-old girl accidentally landed on wooden bannister and sustained a laceration to her back. She complained of back pain but had fully intact neurological function. The laceration in her back was explored and four large wooden pieces were removed. However 72 h later, she developed cauda equina syndrome. MRI demonstrated the presence of a foreign body between second and third lumbar spinal levels following which she underwent emergency decompressive laminectomy and the removal of the multiple wooden fragments that had penetrated the dura. Results: Post-operatively motor function in her lower limbs returned to normal but she continued to require a catheter for incontinence. At review 6 months later, she was mobilising independently but the incontinence remained unchanged. Conclusion: There are no reported cases in the literature of wooden fragments penetrating the dura from the back with or without the progression to cauda equina syndrome. The need for a high degree of suspicion and an early MRI scan to localise any embedded wooden fragments that may be separate from the site of laceration is emphasized even if initial neurology is intact

Next-Generation Sequencing Reveals Recent Horizontal Transfer of a DNA Transposon between Divergent Mosquitoes

Horizontal transfer of genetic material between complex organisms often involves transposable elements (TEs). For example, a DNA transposon mariner has been shown to undergo horizontal transfer between different orders of insects and between different phyla of animals. Here we report the discovery and characterization of an ITmD37D transposon, MJ1, in Anopheles sinensis. We show that some MJ1 elements in Aedes aegypti and An. sinensis contain intact open reading frames and share nearly 99% nucleotide identity over the entire transposon, which is unexpectedly high given that these two genera had diverged 145–200 million years ago. Chromosomal hybridization and TE-display showed that MJ1 copy number is low in An. sinensis. Among 24 mosquito species surveyed, MJ1 is only found in Ae. aegypti and the hyrcanus group of anopheline mosquitoes to which An. sinensis belongs. Phylogenetic analysis is consistent with horizontal transfer and provides the basis for inference of its timing and direction. Although report of horizontal transfer of DNA transposons between higher eukaryotes is accumulating, our analysis is one of a small number of cases in which horizontal transfer of nearly identical TEs among highly divergent species has been thoroughly investigated and strongly supported. Horizontal transfer involving mosquitoes is of particular interest because there are ongoing investigations of the possibility of spreading pathogen-resistant genes into mosquito populations to control malaria and other infectious diseases. The initial indication of horizontal transfer of MJ1 came from comparisons between a 0.4x coverage An. sinensis 454 sequence database and available TEs in mosquito genomes. Therefore we have shown that it is feasible to use low coverage sequencing to systematically uncover horizontal transfer events. Expanding such efforts across a wide range of species will generate novel insights into the relative frequency of horizontal transfer of different TEs and provide the evolutionary context of these lateral transfer events

JWST NIRCam Photometry: A Study of Globular Clusters Surrounding Bright Elliptical Galaxy VV 191a at z=0.0513

James Webb Space Telescope NIRCam images have revealed 443 globular cluster (GC) candidates around the $z=0.0513$ elliptical galaxy VV 191a. NIRCam broadband observations are made at 0.9-4.5 $\mu$m using filters F090W, F150W, F356W, and F444W. Using photometry, the data is analyzed to present color-magnitude diagrams (CMDs) that suggest a fairly uniform population of GCs. Color histograms show a unimodal color distribution that is well fit by a single Gaussian, using color to primarily trace the metallicity. The findings show the sample's globular cluster luminosity function (GCLF) does not reach the turnover value and is, therefore, more luminous than what is typically expected, with an absolute AB magnitude, $M_{F090W} = -8.70$ mag, reaching within nearly one magnitude of the classical turnover value. We attribute this to the completeness in the sample. Models show that the mass estimate of the GCs detected tends to be more massive, reaching upward of $\simeq 10^7 M_{\odot}$. However, the results show that current GC models do not quite align with the data. We find that the models appear to be bluer than the JWST data in the reddest (F356W-F444W) filters and redder than the data in the bluest (F090W-F150W) filters and may need to be revised to improve the modeling of near-IR colors of old, metal-poor stellar populations.Comment: 11 pages, 7 figure

LSST Science Book, Version 2.0

A survey that can cover the sky in optical bands over wide fields to faint magnitudes with a fast cadence will enable many of the exciting science opportunities of the next decade. The Large Synoptic Survey Telescope (LSST) will have an effective aperture of 6.7 meters and an imaging camera with field of view of 9.6 deg^2, and will be devoted to a ten-year imaging survey over 20,000 deg^2 south of +15 deg. Each pointing will be imaged 2000 times with fifteen second exposures in six broad bands from 0.35 to 1.1 microns, to a total point-source depth of r~27.5. The LSST Science Book describes the basic parameters of the LSST hardware, software, and observing plans. The book discusses educational and outreach opportunities, then goes on to describe a broad range of science that LSST will revolutionize: mapping the inner and outer Solar System, stellar populations in the Milky Way and nearby galaxies, the structure of the Milky Way disk and halo and other objects in the Local Volume, transient and variable objects both at low and high redshift, and the properties of normal and active galaxies at low and high redshift. It then turns to far-field cosmological topics, exploring properties of supernovae to z~1, strong and weak lensing, the large-scale distribution of galaxies and baryon oscillations, and how these different probes may be combined to constrain cosmological models and the physics of dark energy.Comment: 596 pages. Also available at full resolution at http://www.lsst.org/lsst/sciboo

JWST's PEARLS: dust attenuation and gravitational lensing in the backlit-galaxy system VV 191

We derive the spatial and wavelength behavior of dust attenuation in the multiple-armed spiral galaxy VV191b using backlighting by the superimposed elliptical system VV191a in a pair with an exceptionally favorable geometry for this measurement. Imaging using JWST and HST spans the wavelength range 0.3-4.5 microns with high angular resolution, tracing the dust in detail from 0.6 to 1.5 microns. Distinct dust lanes continue well beyond the bright spiral arms, and trace a complex web, with a very sharp radial cutoff near 1.7 Petrosian radii. We present attenuation profiles and coverage statistics in each band at radii 14-21 kpc. We derive the attenuation law with wavelength; the data both within and between the dust lanes clearly favor a stronger reddening behavior (R ~ 2.0 between 0.6 and 0.9 microns, approaching unity by 1.5 microns) than found for starbursts and star-forming regions of galaxies. Power-law extinction behavior lambda^(-beta) gives beta=2.1 from 0.6-0.9 microns. R decreases at increasing wavelengths (R~1.1 between 0.9 and 1.5 microns), while beta steepens to 2.5. Mixing regions of different column density flattens the wavelength behavior, so these results suggest a different grain population than in our vicinity. The NIRCam images reveal a lens arc and counterimage from a background galaxy at z~1, spanning 90 degrees azimuthally at 2.8" from the foreground elliptical galaxy nucleus, and an additional weakly-lensed galaxy. The lens model and imaging data give a mass/light ratio 7.6 in solar units within the Einstein radius 2.0 kpc.Comment: Accepted by Astron. J. Analysis redone since submission, using updated JWST calibrations. Dust reddening behavior is steeper with wavelength and lensed galaxy redshift lower than we first derive

The Web Epoch of Reionization Lyman-α\alpha Survey (WERLS) I. MOSFIRE Spectroscopy of z∼7−8\mathbf{z \sim 7-8} Lyman-α\alpha Emitters

We present the first results from the Web Epoch of Reionization Lyman-$\alpha$ Survey (WERLS), a spectroscopic survey of Lyman-$\alpha$ emission using Keck I/MOSFIRE and LRIS. WERLS targets bright ($J<26$) galaxy candidates with photometric redshifts of $5.5\lesssim z \lesssim 8$ selected from pre-JWST imaging embedded in the Epoch of Reionization (EoR) within three JWST deep fields: CEERS, PRIMER, and COSMOS-Web. Here, we report 11 $z\sim7-8$ Lyman-$\alpha$ emitters (LAEs; 3 secure and 8 tentative candidates) detected in the first five nights of WERLS MOSFIRE data. We estimate our observed LAE yield is $\sim13$%, broadly consistent with expectations assuming some loss from redshift uncertainty, contamination from sky OH lines, and that the Universe is approximately half-ionized at this epoch, whereby observable Lyman-$\alpha$ emission is unlikely for galaxies embedded in a neutral intergalactic medium. Our targets are selected to be UV-bright, and span a range of absolute UV magnitudes with $-23.1 < M_{\text{UV}} < -19.8$. With two LAEs detected at $z=7.68$, we also consider the possibility of an ionized bubble at this redshift. Future synergistic Keck+JWST efforts will provide a powerful tool for pinpointing beacons of reionization and mapping the large scale distribution of mass relative to the ionization state of the Universe.Comment: 27 pages, 8 figures; ApJ submitte

Brown marmorated stink bug, Halyomorpha halys (Stål), genome: putative underpinnings of polyphagy, insecticide resistance potential and biology of a top worldwide pest

Background Halyomorpha halys (Stål), the brown marmorated stink bug, is a highly invasive insect species due in part to its exceptionally high levels of polyphagy. This species is also a nuisance due to overwintering in human-made structures. It has caused significant agricultural losses in recent years along the Atlantic seaboard of North America and in continental Europe. Genomic resources will assist with determining the molecular basis for this species’ feeding and habitat traits, defining potential targets for pest management strategies. Results Analysis of the 1.15-Gb draft genome assembly has identified a wide variety of genetic elements underpinning the biological characteristics of this formidable pest species, encompassing the roles of sensory functions, digestion, immunity, detoxification and development, all of which likely support H. halys’ capacity for invasiveness. Many of the genes identified herein have potential for biomolecular pesticide applications. Conclusions Availability of the H. halys genome sequence will be useful for the development of environmentally friendly biomolecular pesticides to be applied in concert with more traditional, synthetic chemical-based controls