Ecological implications of a flower size/number trade-off in tropical forest trees

Peer reviewedPublisher PD

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype. Here, we extend this paradigm by evaluating novel bioinformatics approaches to aid identification of new gene–disease associations. Methods: We analyzed 119 trios to identify both diagnostic genotypes in known genes and candidate genotypes in novel genes. We considered qualifying genotypes based on their population frequency and in silico predicted effects we also characterized the patterns of genotypes enriched among this collection of patients. Results: We obtained a genetic diagnosis for 29 (24%) of our patients. We showed that patients carried an excess of damaging de novo mutations in intolerant genes, particularly those shown to be essential in mice (P = 3.4 × 10−8). This enrichment is only partially explained by mutations found in known disease-causing genes. Conclusion: This work indicates that the application of appropriate bioinformatics analyses to clinical sequence data can also help implicate novel disease genes and suggest expanded phenotypes for known disease genes. These analyses further suggest that some cases resolved by whole-exome sequencing will have direct therapeutic implications

The Gaia-ESO Survey: Asymmetric expansion of the Lagoon Nebula cluster NGC 6530 from GES and Gaia DR2

The combination of precise radial velocities from multi-object spectroscopy and highly accurate proper motions from Gaia DR2 opens up the possibility for detailed 3D kinematic studies of young star-forming regions and clusters. Here, we perform such an analysis by combining Gaia-ESO Survey spectroscopy with Gaia astrometry for ∼900 members of the Lagoon Nebula cluster, NGC 6530. We measure the 3D velocity dispersion of the region to be 5.35+0.39 -0.34 km s-1, which is large enough to suggest the region is gravitationally unbound. The velocity ellipsoid is anisotropic, implying that the region is not sufficiently dynamically evolved to achieve isotropy, though the central part of NGC 6530 does exhibit velocity isotropy that suggests sufficient mixing has occurred in this denser part. We find strong evidence that the stellar population is expanding, though this is preferentially occurring in the declination direction and there is very little evidence for expansion in the right ascension direction. This argues against a simple radial expansion pattern, as predicted by models of residual gas expulsion. We discuss these findings in the context of cluster formation, evolution, and disruption theories.NJW acknowledges an STFC Ernest Rutherford Fellowship (grant number ST/M005569/1). RJP acknowledges support from the Royal Society in the form of a Dorothy Hodgkin Fellowship. AB acknowledges support from ICM (Iniciativa Científica Milenio) via the Núcleo Milenio de Formación Planetaria. EJA acknowledges support from the Spanish Government Ministerio de Ciencia, Innovacion y Universidades though grant AYA2016-75 931-C2-1 and from the State Agency for Research of the Spanish MCIU through the ‘Center of Excellence Severo Ochoa’ award for the Instituto de Astrofisica de Andalucia (SEV-2017-0709)

Sexuality of Young Adults with Cerebral Palsy: Experienced Limitations and Needs

Objective of this study is to describe the problems young adults with Cerebral Palsy (CP) experience in the various stages of the sexual response cycle, and the physical and emotional obstacles they experience with sexuality. In this prospective cohort study 74 young adults (46 men; 28 women) with CP and average intelligence participated, aged 20–24 years. Twenty percent of these young adults with CP experienced anorgasmia, 80% reported physical problems with sex related to CP and 45% emotional inhibition to initiate sexual contact. In 90% of the participants, sexuality had not been discussed during the rehabilitation treatment. Many adolescents reported wanting information about the impact of CP on sexuality and reproduction (35%), about interventions (26%), tools and medicines (16%) and about problems with their partner (14%). Young adults with CP can experience various problems or challenges with sexuality. For preventing sexual difficulties and treating sexual problems, health care professionals need to proactively take the initiative to inform young people with CP about sexuality

Human Genome-Wide RNAi Screen for Host Factors That Modulate Intracellular Salmonella Growth

Salmonella enterica is a bacterial pathogen of humans that can proliferate within epithelial cells as well as professional phagocytes of the immune system. While much has been learned about the microbial genes that influence the infectious process through decades of intensive research, relatively little is known about the host factors that affect infection. We performed a genome-wide siRNA screen to identify host genes that Salmonella enterica serovar Typhimurium (S. typhimurium) utilizes to facilitate growth within human epithelial cells. In this screen, with siRNAs targeting every predicted gene in the human genome, we identified 252 new human-host-susceptibility factors (HSFs) for S. typhimurium. We also identified 39 genes whose silencing results in increased intracellular growth of S. typhimurium. The HSFs identified are regulated most centrally by NFκB and associate with each other through an extremely dense network of interactions that center around a group of kinases. Most genes identified were not previously appreciated as playing roles in the intracellular lifecycle of S. enterica. Numerous HSFs identified with interesting characteristics that could play plausible roles in mediating intracellular microbial growth are discussed. Importantly, this study reveals significant overlap between the host network that supports S. typhimurium growth within human epithelial cells and the one that promotes the growth of Mycobacterium tuberculosis within human macrophages. In addition to providing much new information about the molecular mechanisms underlying S. enterica-host cell interplay, all 252 HSFs identified are candidates for new anti-microbial targets for controlling S. enterica infections, and some may provide broad-spectrum anti-microbial activity

The Gaia-ESO Survey: the selection function of the Milky Way field stars

The Gaia-ESO Survey was designed to target all major Galactic components (i.e. bulge, thin and thick discs, halo and clusters), with the goal of constraining the chemical and dynamical evolution of the Milky Way. This paper presents the methodology and considerations that drive the selection of the targeted, allocated and successfully observed Milky Way field stars. The detailed understanding of the survey construction, specifically the influence of target selection criteria on observed Milky Way field stars is required in order to analyse and interpret the survey data correctly. We present the target selection process for the Milky Way field stars observed with Very Large Telescope/Fibre Large Array Multi Element Spectrograph and provide the weights that characterize the survey target selection. The weights can be used to account for the selection effects in the Gaia-ESO Survey data for scientific studies. We provide a couple of simple examples to highlight the necessity of including such information in studies of the stellar populations in the Milky Way

The Gaia-ESO Survey: Pre-main-sequence stars in the young open cluster NGC 3293

© 2016 The Authors Published by Oxford University Press on behalf of the Royal Astronomical Society.The young open cluster NGC3293 is included in the observing program of the Gaia-ESO survey (GES). The radial velocity values provided have been used to assign cluster membership probabilities by means of a single-variable parametric analysis. These membership probabilities are compared to the results of the photometric membership assignment of NGC3293, based on UBVRI photometry. The agreement of the photometric and kinematic member samples amounts to 65 per cent, and could increase to 70 per cent as suggested by the analysis of the differences between both samples. A number of photometric PMS candidate members of spectral type F are found, which are confirmed by the results from VPHAS photometry and SED fitting for the stars in common with VPHAS and GES data sets. Excesses at mid- and near-infrared wavelengths, and signs of Hα emission, are investigated for them. Marginal presence of Hα emission or infilling is detected for the candidate members. Several of them exhibit moderate signs of U excess and weak excesses at mid-IR wavelengths. We suggest that these features originate from accretion discs in their last stages of evolution

Gaia-ESO Survey: Gas dynamics in the Carina nebula through optical emission lines

Aims. We present observations from the Gaia-ESO Survey in the lines of Hα, [N II], [S II] and He I of nebular emission in the central part of the Carina Nebula. Methods. We investigate the properties of the two already known kinematic components (approaching and receding, respectively), which account for the bulk of emission. Moreover, we investigate the features of the much less known low-intensity high-velocity (absolute RV >50 km/s) gas emission. Results. We show that gas giving rise to Hα and He I emission is dynamically well correlated, but not identical, to gas seen through forbidden-line emission. Gas temperatures are derived from line-width ratios, and densities from [S II] doublet ratios. The spatial variation of N ionization is also studied, and found to differ between the approaching and receding components. The main result is that the bulk of the emission lines in the central part of Carina arises from several distinct shell-like expanding regions, the most evident found around η Car, the Trumpler 14 core, and the starWR25. Such “shells" are non-spherical, and show distortions probably caused by collisions with other shells or colder, higher-density gas. Part of them is also obscured by foreground dust lanes, while only very little dust is found in their interior. Preferential directions, parallel to the dark dust lanes, are found in the shell geometries and physical properties, probably related to strong density gradients in the studied region. We also find evidence that the ionizing flux emerging from η Car and the surrounding Homunculus nebula varies with polar angle. The high-velocity components in the wings of Hα are found to arise from expanding dust reflecting the η Car spectrum

The Gaia-ESO Survey: Spectroscopic-asteroseismic analysis of K2 stars in Gaia-ESO

The extensive stellar spectroscopic datasets that are available for studies in Galactic Archeaology thanks to, for example, the Gaia-ESO Survey, now benefit from having a significant number of targets that overlap with asteroseismology projects such as Kepler, K2 and CoRoT. Combining the measurements from spectroscopy and asteroseismology allows us to attain greater accuracy with regard to the stellar parameters needed to characterise the stellar populations of the Milky Way. The aim of this Gaia-ESO Survey special project is to produce a catalogue of self-consistent stellar parameters by combining measurements from high-resolution spectroscopy and precision asteroseismology. We carried out an iterative analysis of 90 K2@Gaia-ESO red giants. The spectroscopic values of Teff were used as input in the seismic analysis to obtain log(g) values. The seismic estimates of log(g) were then used to re-determine the spectroscopic values of Teff and [Fe/H]. Only one iteration was required to obtain parameters that are in good agreement for both methods and thus, to obtain the final stellar parameters. A detailed analysis of outliers was carried out to ensure a robust determination of the parameters. The results were then combined with Gaia DR2 data to compare the seismic log(g) with a parallax-based log(g) and to investigate instances of variations in the velocity and possible binaries within the dataset. This analysis produced a high-quality catalogue of stellar parameters for 90 red giant stars observed by both K2 and Gaia-ESO that were determined through iterations between spectroscopy and asteroseismology. We compared the seismic gravities with those based on Gaia parallaxes to find an offset which is similar to other studies that have used asteroseismology. Our catalogue also includes spectroscopic chemical abundances and radial velocities, as well as indicators for possible binary detections

The Gaia-ESO Survey: pre-main-sequence stars in the young open cluster NGC 3293

The young open cluster NGC3293 is included in the observing program of the Gaia-ESO survey (GES). The radial velocity values provided have been used to assign cluster membership probabilities by means of a single-variable parametric analysis. These membership probabilities are compared to the results of the photometric membership assignment of NGC3293, based on UBVRI photometry. The agreement of the photometric and kinematic member samples amounts to 65 per cent, and could increase to 70 per cent as suggested by the analysis of the differences between both samples. A number of photometric PMS candidate members of spectral type F are found, which are confirmed by the results from VPHAS photometry and SED fitting for the stars in common with VPHAS and GES data sets. Excesses at mid- and near-infrared wavelengths, and signs of Hα emission, are investigated for them. Marginal presence of Hα emission or infilling is detected for the candidate members. Several of them exhibit moderate signs of U excess and weak excesses at mid-IR wavelengths. We suggest that these features originate from accretion discs in their last stages of evolution