Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (APP), presenilin1 (PSEN1) and ...presenilin2 (PSEN2)), we found that in five patients, the SORL1 gene harbored unknown nonsense (n=1) or missense (n=4) mutations. These mutations were not retrieved in 1500 controls of same ethnic origin. In a replication sample, including 15 ADEOAD cases, 2 unknown non-synonymous mutations (1 missense, 1 nonsense) were retrieved, thus yielding to a total of 7/29 unknown mutations in the combined sample. Using in silico predictions, we conclude that these seven private mutations are likely to have a pathogenic effect. SORL1 encodes the Sortilin-related receptor LR11/SorLA, a protein involved in the control of amyloid beta peptide production. Our results suggest that besides the involvement of the APP and PSEN genes, further genetic heterogeneity, involving another gene of the same pathway is present in ADEOAD.
Comparisons with ground-based correlative measurements constitute a key component in the validation of satellite data on atmospheric composition. The error budget of these comparisons contains not ...only the measurement errors but also several terms related to differences in sampling and smoothing of the inhomogeneous and variable atmospheric field. A versatile system for Observing System Simulation Experiments (OSSEs), named OSSSMOSE, is used here to quantify these terms. Based on the application of pragmatic observation operators onto high-resolution atmospheric fields, it allows a simulation of each individual measurement, and consequently, also of the differences to be expected from spatial and temporal field variations between both measurements making up a comparison pair. As a topical case study, the system is used to evaluate the error budget of total ozone column (TOC) comparisons between GOME-type direct fitting (GODFITv3) satellite retrievals from GOME/ERS2, SCIAMACHY/Envisat, and GOME-2/MetOp-A, and ground-based direct-sun and zenith-sky reference measurements such as those from Dobsons, Brewers, and zenith-scattered light (ZSL-)DOAS instruments, respectively. In particular, the focus is placed on the GODFITv3 reprocessed GOME-2A data record vs. the ground-based instruments contributing to the Network for the Detection of Atmospheric Composition Change (NDACC). The simulations are found to reproduce the actual measurements almost to within the measurement uncertainties, confirming that the OSSE approach and its technical implementation are appropriate. This work reveals that many features of the comparison spread and median difference can be understood as due to metrological differences, even when using strict co-location criteria. In particular, sampling difference errors exceed measurement uncertainties regularly at most mid- and high-latitude stations, with values up to 10 % and more in extreme cases. Smoothing difference errors only play a role in the comparisons with ZSL-DOAS instruments at high latitudes, especially in the presence of a polar vortex due to the strong TOC gradient it induces. At tropical latitudes, where TOC variability is lower, both types of errors remain below about 1 % and consequently do not contribute significantly to the comparison error budget. The detailed analysis of the comparison results, including the metrological errors, suggests that the published random measurement uncertainties for GODFITv3 reprocessed satellite data are potentially overestimated, and adjustments are proposed here. This successful application of the OSSSMOSE system to close for the first time the error budget of TOC comparisons, bodes well for potential future applications, which are briefly touched upon.
Within the European Space Agency's Climate Change Initiative, total ozone column records from GOME (Global Ozone Monitoring Experiment), SCIAMACHY (SCanning Imaging Absorption SpectroMeter for ...Atmospheric CartograpHY), and GOME‐2 have been reprocessed with GODFIT version 3 (GOME‐type Direct FITting). This algorithm is based on the direct fitting of reflectances simulated in the Huggins bands to the observations. We report on new developments in the algorithm from the version implemented in the operational GOME Data Processor v5. The a priori ozone profile database TOMSv8 is now combined with a recently compiled OMI/MLS tropospheric ozone climatology to improve the representativeness of a priori information. The Ring procedure that corrects simulated radiances for the rotational Raman inelastic scattering signature has been improved using a revised semi‐empirical expression. Correction factors are also applied to the simulated spectra to account for atmospheric polarization. In addition, the computational performance has been significantly enhanced through the implementation of new radiative transfer tools based on principal component analysis of the optical properties. Furthermore, a soft‐calibration scheme for measured reflectances and based on selected Brewer measurements has been developed in order to reduce the impact of level‐1 errors. This soft‐calibration corrects not only for possible biases in backscattered reflectances, but also for artificial spectral features interfering with the ozone signature. Intersensor comparisons and ground‐based validation indicate that these ozone data sets are of unprecedented quality, with stability better than 1% per decade, a precision of 1.7%, and systematic uncertainties less than 3.6% over a wide range of atmospheric states.
Key Points
Ozone columns from European sensors reprocessed with an improved algorithm
Soft‐calibration of the reflectances improves the inter‐sensor consistency
High‐quality data sets in excellent agreement with the SBUV v8.6 record
Context.
Characterising the large-scale structure in the Universe from present times to the high redshift epoch of reionisation is essential to constraining the cosmology, the history of star ...formation, and reionisation, to measuring the gas content of the Universe, and to obtaining a better understanding of the physical processes that drive galaxy formation and evolution. Using the integrated emission from unresolved galaxies or gas clouds, line intensity mapping (LIM) provides a new observational window to measure the larger properties of structures. This very promising technique motivates the community to plan for LIM experiments.
Aims.
We describe the development of a large field-of-view instrument, named CONCERTO (for CarbON CII line in post-rEionisation and ReionisaTiOn epoch), operating in the range 130–310 GHz from the APEX 12-m telescope (5100 m above sea level). CONCERTO is a low-resolution spectrometer based on the lumped element kinetic inductance detectors (LEKID) technology. Spectra are obtained using a fast Fourier transform spectrometer (FTS), coupled to a dilution cryostat with a base temperature of 0.1 K. Two two kilo-pixel arrays of LEKID are mounted inside the cryostat that also contains the cold optics and the front-end electronics.
Methods.
We present, in detail, the technological choices leading to the instrumental concept, together with the design and fabrication of the instrument and preliminary laboratory tests on the detectors. We also give our best estimates for CONCERTO sensitivity and give predictions for two of the main scientific goals of CONCERTO, that is, a CII-intensity mapping survey and observations of galaxy clusters.
Results.
We provide a detailed description of the instrument design. Based on realistic comparisons with existing instruments developed by our group (NIKA, NIKA2, and KISS), and on the laboratory characterisation of our detectors, we provide an estimate for CONCERTO sensitivity on the sky. Finally, we describe, in detail, two of the main scientific goals offered by CONCERTO at APEX.
The intensity mapping of the CII 158-μm line redshifted to the submillimeter window is a promising probe of the
z
> 4 star formation and its spatial distribution into large-scale structures. To ...prepare the first-generation experiments (e.g., CONCERTO), we need realistic simulations of the submillimeter extragalactic sky in spectroscopy. We present a new version of the simulated infrared dusty extragalactic sky (SIDES) model including the main submillimeter lines around 1 mm (CO, CII, CI). This approach successfully reproduces the observed line luminosity functions. We then use our simulation to generate CONCERTO-like cubes (125–305 GHz) and forecast the power spectra of the fluctuations caused by the various astrophysical components at those frequencies. Depending on our assumptions on the relation between the star formation rate and CII luminosity, and the star formation history, our predictions of the
z
∼ 6 CII power spectrum vary by two orders of magnitude. This highlights how uncertain the predictions are and how important future measurements will be to improve our understanding of this early epoch. SIDES can reproduce the CO shot noise recently measured at ∼100 GHz by the millimeter-wavelength intensity mapping experiment (mmIME). Finally, we compare the contribution of the different astrophysical components at various redshifts to the power spectra. The continuum is by far the brightest, by a factor of three to 100, depending on the frequency. At 300 GHz, the CO foreground power spectrum is higher than the CII one for our base scenario. At lower frequencies, the contrast between CII and extragalactic foregrounds is even worse. Masking the known galaxies from deep surveys should allow us to reduce the foregrounds to 20% of the CII power spectrum up to
z
∼ 6.5. However, this masking method will not be sufficient at higher redshifts. The code and the products of our simulation are released publicly, and can be used for both intensity mapping experiments and submillimeter continuum and line surveys.
In Lambda-CDM models, galaxies are thought to grow both through continuous cold gas accretion coming from the cosmic web and episodic merger events. The relative importance of these different ...mechanisms at different cosmic epochs is nevertheless not yet understood well. We aim to address questions related to galaxy mass assembly through major and minor wet merging processes in the redshift range 1 < zeta < 2, an epoch that corresponds to the peak of cosmic star formation history. A significant fraction of Milky Way-like galaxies are thought to have undergone an unstable clumpy phase at this early stage. We focus on the behavior of the young clumpy disks when galaxies are undergoing gas-rich galaxy mergers. The star formation history of isolated disks shows a stochastic star formation rate, which proceeds from the complex behavior of the giant clumps. The mass-size relation and its rate of evolution in the redshift range 1 < zeta < 2 matches observations, suggesting that the inside-out growth mechanisms of the stellar disk do not necessarily require cold accretion.
The European Space Agency's Ozone Climate Change Initiative (O3‐CCI) project aims at producing and validating a number of high‐quality ozone data products generated from different satellite sensors. ...For total ozone, the O3‐CCI approach consists of minimizing sources of bias and systematic uncertainties by applying a common retrieval algorithm to all level 1 data sets, in order to enhance the consistency between the level 2 data sets from individual sensors. Here we present the evaluation of the total ozone products from the European sensors Global Ozone Monitoring Experiment (GOME)/ERS‐2, SCIAMACHY/Envisat, and GOME‐2/MetOp‐A produced with the GOME‐type Direct FITting (GODFIT) algorithm v3. Measurements from the three sensors span more than 16 years, from 1996 to 2012. In this work, we present the latest O3‐CCI total ozone validation results using as reference ground‐based measurements from Brewer and Dobson spectrophotometers archived at the World Ozone and UV Data Centre of the World Meteorological Organization as well as from UV‐visible differential optical absorption spectroscopy (DOAS)/Système D′Analyse par Observations Zénithales (SAOZ) instruments from the Network for the Detection of Atmospheric Composition Change. In particular, we investigate possible dependencies in these new GODFIT v3 total ozone data sets with respect to latitude, season, solar zenith angle, and different cloud parameters, using the most adequate type of ground‐based instrument. We show that these three O3‐CCI total ozone data products behave very similarly and are less sensitive to instrumental degradation, mainly as a result of the new reflectance soft‐calibration scheme. The mean bias to the ground‐based observations is found to be within the 1 ± 1% level for all three sensors while the near‐zero decadal stability of the total ozone columns (TOCs) provided by the three European instruments falls well within the 1–3% requirement of the European Space Agency's Ozone Climate Change Initiative project.
Key Points
Validation of Ozone‐CCI total ozone products from GOME/ERS‐2, SCIAMACHY/Envisat, and GOME‐2/MetOpA
The Ozone‐CCI total ozone data behave similarly and are less sensitive to instrumental degradation
The decadal stability of the TOCs falls well within the 1–3% requirement
The cell of origin of the five subtypes (I-V) of germ cell tumors (GCTs) are assumed to be germ cells from different maturation stages. This is (potentially) reflected in their methylation status as ...fetal maturing primordial germ cells are globally demethylated during migration from the yolk sac to the gonad. Imprinted regions are erased in the gonad and later become uniparentally imprinted according to fetal sex. Here, 91 GCTs (type I-IV) and four cell lines were profiled (Illumina's HumanMethylation450BeadChip). Data was pre-processed controlling for cross hybridization, SNPs, detection rate, probe-type bias and batch effects. The annotation was extended, covering snRNAs/microRNAs, repeat elements and imprinted regions. A Hidden Markov Model-based genome segmentation was devised to identify differentially methylated genomic regions. Methylation profiles allowed for separation of clusters of non-seminomas (type II), seminomas/dysgerminomas (type II), spermatocytic seminomas (type III) and teratomas/dermoid cysts (type I/IV). The seminomas, dysgerminomas and spermatocytic seminomas were globally hypomethylated, in line with previous reports and their demethylated precursor. Differential methylation and imprinting status between subtypes reflected their presumed cell of origin. Ovarian type I teratomas and dermoid cysts showed (partial) sex specific uniparental maternal imprinting. The spermatocytic seminomas showed uniparental paternal imprinting while testicular teratomas exhibited partial imprinting erasure. Somatic imprinting in type II GCTs might indicate a cell of origin after global demethylation but before imprinting erasure. This is earlier than previously described, but agrees with the totipotent/embryonic stem cell like potential of type II GCTs and their rare extra-gonadal localization. The results support the common origin of the type I teratomas and show strong similarity between ovarian type I teratomas and dermoid cysts. In conclusion, we identified specific and global methylation differences between GCT subtypes, providing insight into their developmental timing and underlying developmental biology. Data and extended annotation are deposited at GEO (GSE58538 and GPL18809).
ABSTRACT Using three fiducial N-body+SPH simulations, we follow the merging of two disk galaxies that each have a hot gaseous halo component, and examine whether the merger remnant can be a spiral ...galaxy. The stellar progenitor disks are destroyed by violent relaxation during the merging and most of their stars form a classical bulge, while the remaining stars, as well as stars born during the merging times, form a thick disk and its bar. A new stellar disk forms subsequently and gradually in the remnant from the gas accreted mainly from the halo. It is vertically thin and well extended in its equatorial plane. A bar starts forming before the disk is fully in place, which is contrary to what is assumed in idealized simulations of isolated bar-forming galaxies, and has morphological features such as ansae and boxy/peanut bulges. Stars of different ages populate different parts of the box/peanut. A disky pseudobulge also forms, so that by the end of the simulation all three types of bulges coexist. The oldest stars are found in the classical bulge, followed by those of the thick disk, then by those in the thin disk. The youngest stars are in the spiral arms and the disky pseudobulge. The disk surface density profiles are of type II (exponential with downbending); the circular velocity curves are flat and show that the disks are submaximum in these examples: two clearly so and one near-borderline between maximum and submaximum. On average, only roughly between 10% and 20% of the stellar mass is in the classical bulge of the final models, i.e., much less than in previous simulations.
Distance of Hi-GAL sources Mège, P.; Russeil, D.; Zavagno, A. ...
Astronomy and astrophysics (Berlin),
02/2021, Volume:
646
Journal Article
Peer reviewed
Open access
Aims.
Distances are key to determining the physical properties of sources. In the Galaxy, large (> 10 000) homogeneous samples of sources for which distance are available, covering the whole Galactic ...distance range, are still missing. Here we present a catalog of velocity and distance for a large sample (> 100 000) of Hi-GAL compact sources.
Methods.
We developed a fully automatic Python package to extract the velocity and determine the distance. To assign a velocity to a Hi-GAL compact source, the code uses all the available spectroscopic data complemented by a morphological analysis. Once the velocity is determined, if no stellar or maser parallax distance is known, the kinematic distance is calculated and the distance ambiguity (for sources located inside the Solar circle) is solved with the H
I
self-absorption method or from distance–extinction data.
Results.
Among the 150 223 compact sources of the Hi-GAL catalog, we obtained a distance for 124 069 sources for the 5
σ
catalog (and 128 351 sources for the 3
σ
catalog), where
σ
represents the noise level of each molecular spectrum used for the line detections made at 5
σ
and 3
σ
to produce the respective catalogs.
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