ALBERT

Description: Cosmic structures leave an imprint on the microwave background radiation through the integrated Sachs–Wolfe (ISW) effect. We construct a template map of the linear signal using the Sloan Digital Sky Survey-III Baryon Acoustic Oscillation Survey at redshift 0.43 〈 z 〈 0.65. We verify the imprint of this map on the Planck cosmic microwave background (CMB) temperature map at the 97 per cent confidence level and show consistency with the density–temperature cross-correlation measurement. Using this ISW reconstruction as a template, we investigate the presence of ISW sources and further examine the properties of the Granett–Neyrinck–Szapudi supervoid and supercluster catalogue. We characterize the three-dimensional density profiles of these structures for the first time and demonstrate that they are significant structures. Model fits demonstrate that the supervoids are elongated along the line of sight and we suggest that this special orientation may be picked out by the void-finding algorithm in photometric redshift space. We measure the mean temperature profiles in Planck maps from public void and cluster catalogues. In an attempt to maximize the stacked ISW signal, we construct a new catalogue of superstructures based upon local peaks and troughs of the gravitational potential. However, we do not find a significant correlation between these structures and the CMB temperature.

Description: Ataxia telangiectasia (AT) is a progressive multisystem disorder caused by mutations in the AT-mutated ( ATM ) gene. AT is a neurodegenerative disease primarily characterized by cerebellar degeneration in children leading to motor impairment. The disease progresses with other clinical manifestations including oculocutaneous telangiectasia, immune disorders, increased susceptibly to cancer and respiratory infections. Although genetic investigations and physiological models have established the linkage of ATM with AT onset, the mechanisms linking ATM to neurodegeneration remain undetermined, hindering therapeutic development. Several murine models of AT have been successfully generated showing some of the clinical manifestations of the disease, however they do not fully recapitulate the hallmark neurological phenotype, thus highlighting the need for a more suitable animal model. We engineered a novel porcine model of AT to better phenocopy the disease and bridge the gap between human and current animal models. The initial characterization of AT pigs revealed early cerebellar lesions including loss of Purkinje cells (PCs) and altered cytoarchitecture suggesting a developmental etiology for AT and could advocate for early therapies for AT patients. In addition, similar to patients, AT pigs show growth retardation and develop motor deficit phenotypes. By using the porcine system to model human AT, we established the first animal model showing PC loss and motor features of the human disease. The novel AT pig provides new opportunities to unmask functions and roles of ATM in AT disease and in physiological conditions.

Description: The impact of gene mutations on the growth of the cells can be studied using pure cultures. However, the importance of certain proteins and pathways can be also examined via co-culturing wild type and its mutant derivative. Here, the relative fitness of a mutant strain that lacks the global nitrogen regulator, CodY, was examined in Bacillus cereus , a food poisoning Gram-positive bacterium. Fitness measurements revealed that the codY strain was outcompeted when cocultured with the wild-type ATCC 14579 under various rich laboratory medium, and also when inoculated in certain beverages. In nutrient-poor minimal medium, the codY mutant had comparable fitness to the wild-type strain. Interestingly, the relative fitness of the codY strain was antagonistic when it was cultivated in apple or orange juices due to unknown properties of these beverages, highlighting the importance of chemical composition of the test medium during the bacterial fitness measurements.

Description: We use the WISE -2MASS infrared galaxy catalogue matched with Pan-STARRS1 (PS1) galaxies to search for a supervoid in the direction of the cosmic microwave background (CMB) cold spot (CS). Our imaging catalogue has median redshift z ~= 0.14, and we obtain photometric redshifts from PS1 optical colours to create a tomographic map of the galaxy distribution. The radial profile centred on the CS shows a large low-density region, extending over tens of degrees. Motivated by previous CMB results, we test for underdensities within two angular radii, 5°, and 15°. The counts in photometric redshift bins show significantly low densities at high detection significance, 5 and 6, respectively, for the two fiducial radii. The line-of-sight position of the deepest region of the void is z ~= 0.15–0.25. Our data, combined with an earlier measurement by Granett, Szapudi & Neyrinck, are consistent with a large R void  = (220 ± 50) h –1 Mpc supervoid with m ~= –0.14 ± 0.04 centred at z  = 0.22 ± 0.03. Such a supervoid, constituting at least a ~=3.3 fluctuation in a Gaussian distribution of the cold dark matter model, is a plausible cause for the CS.

Description: We combine photometric information of the Wide-Field Infrared Survey Explorer ( WISE ) and Two Micron All Sky Survey (2MASS) all-sky infrared data bases, and demonstrate how to produce clean and complete galaxy catalogues for future analyses. Adding 2MASS colours to WISE photometry improves star–galaxy separation efficiency substantially at the expense of losing a small fraction of the galaxies. We find that 93 per cent of the WISE objects within W 1 〈 15.2 mag have a 2MASS match, and that a class of supervised machine learning algorithms, support vector machines (SVM), are efficient classifiers of objects in our multicolour data set. We constructed a training set from the Sloan Digital Sky Survey PhotoObj table with known star–galaxy separation, and determined redshift distribution of our sample from the Galaxy and Mass Assembly spectroscopic survey. Varying the combination of photometric parameters input into our algorithm we show that W 1 WISE  –  J 2MASS is a simple and effective star–galaxy separator, capable of producing results comparable to the multidimensional SVM classification. We present a detailed description of our star–galaxy separation methods, and characterize the robustness of our tools in terms of contamination, completeness, and accuracy. We explore systematics of the full sky WISE -2MASS galaxy map, such as contamination from moon glow. We show that the homogeneity of the full sky galaxy map is improved by an additional J 2MASS  〈 16.5 mag flux limit. The all-sky galaxy catalogue we present in this paper covers 21 200 deg 2 with dusty regions masked out, and has an estimated stellar contamination of 1.2 per cent and completeness of 70.1 per cent among 2.4 million galaxies with z med   0.14. WISE -2MASS galaxy maps with well controlled stellar contamination will be useful for spatial statistical analyses, including cross-correlations with other cosmological random fields, such as the cosmic microwave background. The same techniques also yield a statistically controlled sample of stars as well.

Description: We analyse publicly available void catalogues of the Baryon Oscillation Spectroscopic Survey Data Release 10 (DR10) at redshifts 0.4 〈  z  〈 0.7. The first goal of this paper is to extend the cosmic microwave background (CMB) stacking analysis of previous spectroscopic void samples at z  〈 0.4. In addition, the DR10 void catalogue provides the first chance to spectroscopically probe the volume of the Granett et al. supervoid catalogue that constitutes the only set of voids which has shown a significant detection of a cross-correlation signal between void locations and average CMB chill. We found that the positions of voids identified in the spectroscopic DR10 galaxy catalogue typically do not coincide with the locations of the Granett et al. supervoids in the overlapping volume, in spite of the presence of large underdense regions of high void-density in DR10. This failure to locate the same structures with spectroscopic redshifts may arise due to systematic differences in the properties of voids detected in photometric and spectroscopic samples. In the stacking measurement, we first find a T = –11.5 ± 3.7 μK imprint for 35 of the 50 Granett et al. supervoids available in the DR10 volume. For the DR10 void catalogue, lacking a prior on the number of voids to be considered in the stacking analysis, we find that the correlation measurement is fully consistent with no correlation. However, the measurement peaks with amplitude T = –9.8 ± 4.8 μK for the a posteriori-selected 44 largest voids of size R  〉 65 h –1 Mpc that does match in terms of amplitude and number of structures the Granett et al. observation, although at different void positions.

Description: We test the statistical isotropy of the Universe by analysing the distribution of WISE extragalactic sources that were also observed by 2MASS. We pay particular attention to colour cuts and foreground marginalization in order to cull a uniform sample of extragalactic objects and avoid stars. We detect a dipole gradient in the number counts with an amplitude of ~0.05, somewhat larger than expectations based on local structures corresponding to the depth and (independently measured) bias of our WISE –2MASS sources. The direction of the dipole, ( l , b ) ~= (310°, –15°), is in reasonably good agreement with that found previously in the (shallower) 2MASS Extended Source Catalog alone. Interestingly, the dipole direction is not far from the direction of the dipolar modulation in the cosmic microwave background found by Planck, and also fairly closely matches large-scale structure bulk-flow directions found by various groups using galaxies and Type Ia supernovae. It is difficult, however, to draw specific conclusions from the near-agreement of these directions.

Description: The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive neurodegenerative disorders in children characterized by the progressive onset of seizures, blindness, motor and cognitive decline and premature death. Patients with mutations in CLN1 primarily manifest with infantile NCL (INCL or Haltia-Santavuori disease), which is second only to congenital NCL for its age of onset and devastating progression. CLN1 encodes a lysosomal enzyme, palmitoyl-protein thioesterase 1 (PPT1). Nonsense mutations in CLN1 account for 52.3% of all disease causing alleles in infantile NCL, the most common of which worldwide is the p.R151X mutation. Previously, we have shown how nonsense-mediated decay is involved in the degradation of CLN1 mRNA transcripts containing the p.R151X mutation in human lymphoblast cell lines. We have also shown how the read-through drugs gentamicin and ataluren (PTC124) increase CLN1 (PPT1) enzyme activity. Here, we provide the initial characterization of the novel Cln1 R151X mouse model of infantile neuronal ceroid lipofuscinosis that we have generated. This nonsense mutation model recapitulates the molecular, histological and behavioral phenotypes of the human disease. Cln1 R151X mice showed a significant decrease in Cln1 mRNA level and PPT1 enzyme activity, accumulation of autofluorescent storage material, astrocytosis and microglial activation in the brain. Behavioral characterization of Cln1 R151X mice at 3 and 5 months of age revealed significant motor deficits as measured by the vertical pole and rotarod tests. We also show how the read-through compound ataluren (PTC124) increases PPT1 enzyme activity and protein level in Cln1 R151X mice in a proof-of-principle study.

Description: Passive seismic experiment was carried out at the SW contact of the Dinarides and Pannonian basin to determine the crustal structure and velocity discontinuities. The aim of the experiment was to define the relationship between the Adriatic microplate and the Pannonian segment as a part of the European plate. Most of the temporary seismic stations were deployed in Croatia along the Alp07 profile—a part of the active-source ALP 2002 project. About 300-km-long profile stretches from Istra peninsula to the Drava river, in a WSW–ESE direction. Teleseismic events recorded on 13 temporary seismic stations along the profile were analysed by P -receiver function method. Two types of characteristic receiver functions (RF) have been identified, belonging to Dinaridic and Pannonian crusts as defined on the Alp07 profile, while in transitional zone there are both types. Three major crustal discontinuities can be identified for the Dinaridic type: sedimentary basement, intracrustal discontinuity and Mohorovičić discontinuity, whereas the Pannonian type revealed only two discontinuities. The intracrustal discontinuity was not observed in the Pannonian type, thus pointing to a single-layered crust in the Pannonian basin. Two interpretation methods were applied: forward modelling of the receiver functions and H – stacking method, and the results were compared with the active-source seismic data at deep refraction profile Alp07. The receiver function modelling has given reliable results of the Moho depths that are in accordance with the seismic refraction results at the end of the Alp07 profile, that is in the area of Pannonian crust characterized by simple crustal structure and low seismic velocities ( Vp between 5.9 and 6.2 km s –1 ). In the Dinarides and its peripheral parts, receiver function modelling regularly gives greater Moho depths, up to +15 per cent, due to more complex crustal structure. The depths of the Moho calculated by the H – stacking method vary within wide limits (±13 km), due to band limited data of short-period stations. The results at five stations have to be rejected because of huge deviations in comparison with all previous results, while at the other seven stations the Moho depths vary within ±15 per cent around the Moho discontinuity of the Alp07 profile.

Description: The alignment of the CMB Cold Spot and the Eridanus supervoid suggests a physical connection between these two relatively rare objects. We use galaxy catalogues with photometric (2MPZ) and spectroscopic (6dF) redshift measurements, supplemented by low-redshift compilations of cosmic voids, in order to improve the 3D mapping of the matter density in the Eridanus constellation. We find evidence for a supervoid with a significant elongation in the line of sight, effectively spanning the total redshift range z 〈 0.3. Our tomographic imaging reveals important substructure in the Eridanus supervoid, with a potential interpretation of a long, fully connected system of voids. We improve the analysis by extending the line-of-sight measurements into the antipodal direction that interestingly crosses the Northern Local Supervoid at the lowest redshifts. Then it intersects very rich superclusters like Hercules and Corona Borealis, in the region of the Coma and Sloan Great Walls, as a possible compensation for the large-scale matter deficit of Eridanus. We find that large-scale structure measurements are consistent with a central matter underdensity 0 –0.25, projected transverse radius $r_{0}^{\perp }\approx 195$ Mpc  h –1 with an extra deepening in the centre, and line-of-sight radius $r_{0}^{\parallel }\approx 500$ Mpc  h –1 , i.e. an ellipsoidal supervoid. The expected integrated Sachs–Wolfe imprint of such an elongated supervoid is at the T ISW –40 μK level, thus inappropriate to accounting for the Cold Spot pattern in the CMB.