A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons.

Chromosome rearrangements in small apes are up to 20 times more frequent than in most mammals. Because of their complexity, the full extent of chromosome evolution in these hominoids is not yet fully documented. However, previous work with array painting, BAC-FISH, and selective sequencing in two of the four karyomorphs has shown that high-resolution methods can precisely define chromosome breakpoints and map the complex flow of evolutionary chromosome rearrangements. Here we use these tools to precisely define the rearrangements that have occurred in the remaining two karyomorphs, genera Symphalangus (2n = 50) and Hoolock (2n = 38). This research provides the most comprehensive insight into the evolutionary origins of chromosome rearrangements involved in transforming small apes genome. Bioinformatics analyses of the human–gibbon synteny breakpoints revealed association with transposable elements and segmental duplications, providing some insight into the mechanisms that might have promoted rearrangements in small apes. In the near future, the comparison of gibbon genome sequences will provide novel insights to test hypotheses concerning the mechanisms of chromosome evolution. The precise definition of synteny block boundaries and orientation, chromosomal fusions, and centromere repositioning events presented here will facilitate genome sequence assembly for these close relatives of humans

Color stabilization of apulian red wines through the sequential inoculation of starmerella bacillaris and saccharomyces cerevisiae

Mixed fermentation using Starmerella bacillaris and Saccharomyces cerevisiae has gained attention in recent years due to their ability to modulate the qualitative parameters of enological interest, such as the color intensity and stability of wine. In this study, three of the most important red Apulian varieties were fermented through two pure inoculations of Saccharomyces cerevisiae strains or the sequential inoculation of Saccharomyces cerevisiae after 48 h from Starmerella bacillaris. The evolution of anthocyanin profiles and chromatic characteristics were determined in the produced wines at draining off and after 18 months of bottle aging in order to assess the impact of the different fermentation protocols on the potential color stabilization and shelf-life. The chemical composition analysis showed titratable acidity and ethanol content exhibiting marked differences among wines after fermentation and aging. The 48 h inoculation delay produced wines with higher values of color intensity and color stability. This was ascribed to the increased presence of compounds, such as stable A-type vitisins and reddish/violet ethylidene-bridge flavonol-anthocyanin adducts, in the mixed fermentation. Our results proved that the sequential fermentation of Starmerella bacillaris and Saccharomyces cerevisiae could enhance the chromatic profile as well as the stability of the red wines, thus improving their organoleptic quality

Euclid:Validation of the MontePython forecasting tools

The Euclid mission of the European Space Agency will perform a survey of weak lensing cosmic shear and galaxy clustering in order to constrain cosmological models and fundamental physics. We expand and adjust the mock Euclid likelihoods of the MontePython software in order to match the exact recipes used in previous Euclid Fisher matrix forecasts for several probes: weak lensing cosmic shear, photometric galaxy clustering, the cross-correlation between the latter observables, and spectroscopic galaxy clustering. We also establish which precision settings are required when running the Einstein-Boltzmann solvers CLASS and CAMB in the context of Euclid. For the minimal cosmological model, extended to include dynamical dark energy, we perform Fisher matrix forecasts based directly on a numerical evaluation of second derivatives of the likelihood with respect to model parameters. We compare our results with those of other forecasting methods and tools. We show that such MontePython forecasts agree very well with previous Fisher forecasts published by the Euclid Collaboration, and also, with new forecasts produced by the CosmicFish code, now interfaced directly with the two Einstein-Boltzmann solvers CAMB and CLASS. Moreover, to establish the validity of the Gaussian approximation, we show that the Fisher matrix marginal error contours coincide with the credible regions obtained when running Monte Carlo Markov Chains with MontePython while using the exact same mock likelihoods. The new Euclid forecast pipelines presented here are ready for use with additional cosmological parameters, in order to explore extended cosmological models

Euclid:Validation of the MontePython forecasting tools

The Euclid mission of the European Space Agency will perform a survey of weak lensing cosmic shear and galaxy clustering in order to constrain cosmological models and fundamental physics. We expand and adjust the mock Euclid likelihoods of the MontePython software in order to match the exact recipes used in previous Euclid Fisher matrix forecasts for several probes: weak lensing cosmic shear, photometric galaxy clustering, the cross-correlation between the latter observables, and spectroscopic galaxy clustering. We also establish which precision settings are required when running the Einstein-Boltzmann solvers CLASS and CAMB in the context of Euclid. For the minimal cosmological model, extended to include dynamical dark energy, we perform Fisher matrix forecasts based directly on a numerical evaluation of second derivatives of the likelihood with respect to model parameters. We compare our results with those of other forecasting methods and tools. We show that such MontePython forecasts agree very well with previous Fisher forecasts published by the Euclid Collaboration, and also, with new forecasts produced by the CosmicFish code, now interfaced directly with the two Einstein-Boltzmann solvers CAMB and CLASS. Moreover, to establish the validity of the Gaussian approximation, we show that the Fisher matrix marginal error contours coincide with the credible regions obtained when running Monte Carlo Markov Chains with MontePython while using the exact same mock likelihoods. The new Euclid forecast pipelines presented here are ready for use with additional cosmological parameters, in order to explore extended cosmological models

Sterile neutrino portal to Dark Matter I: the U(1) B−L case

In this paper we explore the possibility that the sterile neutrino and Dark Matter sectors in the Universe have a common origin. We study the consequences of this assumption in the simple case of coupling the dark sector to the Standard Model via a global U(1)B−L, broken down spontaneously by a dark scalar. This dark scalar provides masses to the dark fermions and communicates with the Higgs via a Higgs portal coupling. We find an interesting interplay between Dark Matter annihilation to dark scalars — the CP-even that mixes with the Higgs and the CP-odd which becomes a Goldstone boson, the Majoron — and heavy neutrinos, as well as collider probes via the coupling to the Higgs. Moreover, Dark Matter annihilation into sterile neutrinos and its subsequent decay to gauge bosons and quarks, charged leptons or neutrinos lead to indirect detection signatures which are close to current bounds on the gamma ray flux from the galactic center and dwarf galaxies

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

<p>Abstract</p> <p>Background</p> <p>Pentasomy X (49,XXXXX) has been associated with a severe clinical condition, presumably resulting from failure or disruption of X chromosome inactivation. Here we report that some human X chromosomes from a patient with 49,XXXXX pentasomy were functionally active following isolation in inter-specific (human-rodent) cell hybrids. A comparison with cytogenetic and molecular findings provided evidence that more than one active X chromosome was likely to be present in the cells of this patient, accounting for her abnormal phenotype.</p> <p>Results</p> <p>5-bromodeoxyuridine (BrdU)-pulsed cultures showed different patterns among late replicating X chromosomes suggesting that their replication was asynchronic and likely to result in irregular inactivation. Genotyping of the proband and her mother identified four maternal and one paternal X chromosomes in the proband. It also identified the paternal X chromosome haplotype (P), indicating that origin of this X pentasomy resulted from two maternal, meiotic non-disjunctions. Analysis of the <it>HUMANDREC </it>region of the androgen receptor (<it>AR</it>) gene in the patient's mother showed a skewed inactivation pattern, while a similar analysis in the proband showed an active paternal X chromosome and preferentially inactivated X chromosomes carrying the 173 <it>AR </it>allele. Analyses of 33 cell hybrid cell lines selected in medium containing hypoxanthine, aminopterin and thymidine (HAT) allowed for the identification of three maternal X haplotypes (M1, M2 and MR) and showed that X chromosomes with the M1, M2 and P haplotypes were functionally active. In 27 cell hybrids in which more than one X haplotype were detected, analysis of X inactivation patterns provided evidence of preferential inactivation.</p> <p>Conclusion</p> <p>Our findings indicated that 12% of X chromosomes with the M1 haplotype, 43.5% of X chromosomes with the M2 haplotype, and 100% of the paternal X chromosome (with the P haplotype) were likely to be functionally active in the proband's cells, a finding indicating that disruption of X inactivation was associated to her severe phenotype.</p

A White Paper on keV Sterile Neutrino Dark Matter

We present a comprehensive review of keV-scale sterile neutrino Dark Matter,collecting views and insights from all disciplines involved - cosmology,astrophysics, nuclear, and particle physics - in each case viewed from boththeoretical and experimental/observational perspectives. After reviewing therole of active neutrinos in particle physics, astrophysics, and cosmology, wefocus on sterile neutrinos in the context of the Dark Matter puzzle. Here, wefirst review the physics motivation for sterile neutrino Dark Matter, based onchallenges and tensions in purely cold Dark Matter scenarios. We then round outthe discussion by critically summarizing all known constraints on sterileneutrino Dark Matter arising from astrophysical observations, laboratoryexperiments, and theoretical considerations. In this context, we provide abalanced discourse on the possibly positive signal from X-ray observations.Another focus of the paper concerns the construction of particle physicsmodels, aiming to explain how sterile neutrinos of keV-scale masses could arisein concrete settings beyond the Standard Model of elementary particle physics.The paper ends with an extensive review of current and future astrophysical andlaboratory searches, highlighting new ideas and their experimental challenges,as well as future perspectives for the discovery of sterile neutrinos

Y-Chromosome Variation in Hominids: Intraspecific Variation Is Limited to the Polygamous Chimpanzee

The original publication is available at www.plosone.orgBackground: We have previously demonstrated that the Y-specific ampliconic fertility genes DAZ (deleted in azoospermia) and CDY (chromodomain protein Y) varied with respect to copy number and position among chimpanzees (Pan troglodytes). In comparison, seven Y-chromosomal lineages of the bonobo (Pan paniscus), the chimpanzee’s closest living relative, showed no variation. We extend our earlier comparative investigation to include an analysis of the intraspecific variation of these genes in gorillas (Gorilla gorilla) and orangutans (Pongo pygmaeus), and examine the resulting patterns in the light of the species’ markedly different social and mating behaviors. Methodology/Principal Findings: Fluorescence in situ hybridization analysis (FISH) of DAZ and CDY in 12 Y-chromosomal lineages of western lowland gorilla (G. gorilla gorilla) and a single lineage of the eastern lowland gorilla (G. beringei graueri) showed no variation among lineages. Similar findings were noted for the 10 Y-chromosomal lineages examined in the Bornean orangutan (Pongo pygmaeus), and 11 Y-chromosomal lineages of the Sumatran orangutan (P. abelii). We validated the contrasting DAZ and CDY patterns using quantitative real-time polymerase chain reaction (qPCR) in chimpanzee and bonobo. Conclusion/Significance: High intraspecific variation in copy number and position of the DAZ and CDY genes is seen only in the chimpanzee. We hypothesize that this is best explained by sperm competition that results in the variant DAZ and CDY haplotypes detected in this species. In contrast, bonobos, gorillas and orangutans—species that are not subject to sperm competition—showed no intraspecific variation in DAZ and CDY suggesting that monoandry in gorillas, and preferential female mate choice in bonobos and orangutans, probably permitted the fixation of a single Y variant in each taxon. These data support the notion that the evolutionary history of a primate Y chromosome is not simply encrypted in its DNA sequences, but is also shaped by the social and behavioral circumstances under which the specific species has evolved.Funded by the Deutsche Forschungsgemeinschaft (SCHE 214/8)Publisher's versio