560 research outputs found
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
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 elliptical galaxy VV 191a. NIRCam
broadband observations are made at 0.9-4.5 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, 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 . 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
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
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
The Web Epoch of Reionization Lyman- Survey (WERLS) I. MOSFIRE Spectroscopy of Lyman- Emitters
We present the first results from the Web Epoch of Reionization
Lyman- Survey (WERLS), a spectroscopic survey of Lyman-
emission using Keck I/MOSFIRE and LRIS. WERLS targets bright () galaxy
candidates with photometric redshifts of 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
Lyman- 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 %, 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-
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 . With two LAEs detected at
, 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
Quantifying neutralising antibody responses against SARS-CoV-2 in dried blood spots (DBS) and paired sera
The ongoing SARS-CoV-2 pandemic was initially managed by non-pharmaceutical interventions such as diagnostic testing, isolation of positive cases, physical distancing and lockdowns. The advent of vaccines has provided crucial protection against SARS-CoV-2. Neutralising antibody (nAb) responses are a key correlate of protection, and therefore measuring nAb responses is essential for monitoring vaccine efficacy. Fingerstick dried blood spots (DBS) are ideal for use in large-scale sero-surveillance because they are inexpensive, offer the option of self-collection and can be transported and stored at ambient temperatures. Such advantages also make DBS appealing to use in resource-limited settings and in potential future pandemics. In this study, nAb responses in sera, venous blood and fingerstick blood stored on filter paper were measured. Samples were collected from SARS-CoV-2 acutely infected individuals, SARS-CoV-2 convalescent individuals and SARS-CoV-2 vaccinated individuals. Good agreement was observed between the nAb responses measured in eluted DBS and paired sera. Stability of nAb responses was also observed in sera stored on filter paper at room temperature for 28 days. Overall, this study provides support for the use of filter paper as a viable sample collection method to study nAb responses.</p
Genetic mechanisms of critical illness in COVID-19.
Host-mediated lung inflammation is present1, and drives mortality2, in the critical illness caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with critical illness may identify mechanistic targets for therapeutic development3. Here we report the results of the GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study in 2,244 critically ill patients with COVID-19 from 208 UK intensive care units. We have identified and replicated the following new genome-wide significant associations: on chromosome 12q24.13 (rs10735079, P = 1.65 × 10-8) in a gene cluster that encodes antiviral restriction enzyme activators (OAS1, OAS2 and OAS3); on chromosome 19p13.2 (rs74956615, P = 2.3 × 10-8) near the gene that encodes tyrosine kinase 2 (TYK2); on chromosome 19p13.3 (rs2109069, P = 3.98 × 10-12) within the gene that encodes dipeptidyl peptidase 9 (DPP9); and on chromosome 21q22.1 (rs2236757, P = 4.99 × 10-8) in the interferon receptor gene IFNAR2. We identified potential targets for repurposing of licensed medications: using Mendelian randomization, we found evidence that low expression of IFNAR2, or high expression of TYK2, are associated with life-threatening disease; and transcriptome-wide association in lung tissue revealed that high expression of the monocyte-macrophage chemotactic receptor CCR2 is associated with severe COVID-19. Our results identify robust genetic signals relating to key host antiviral defence mechanisms and mediators of inflammatory organ damage in COVID-19. Both mechanisms may be amenable to targeted treatment with existing drugs. However, large-scale randomized clinical trials will be essential before any change to clinical practice
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