| 1. |
- Joshi, Peter K, et al.
(författare)
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Directional dominance on stature and cognition in diverse human populations
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 523:7561, s. 459-462
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Tidskriftsartikel (refereegranskat)abstract
- Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.
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| 2. |
- Gaulton, Kyle J, et al.
(författare)
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Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
- 2015
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:12, s. 1415-1415
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Tidskriftsartikel (refereegranskat)abstract
- We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.
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| 3. |
- McLeod, Anna F., et al.
(författare)
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The impact of pre-supernova feedback and its dependence on environment
- 2021
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 508:4, s. 5425-5448
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Tidskriftsartikel (refereegranskat)abstract
- Integral field units enable resolved studies of a large number of star-forming regions across entire nearby galaxies, providing insight on the conversion of gas into stars and the feedback from the emerging stellar populations over unprecedented dynamic ranges in terms of spatial scale, star-forming region properties, and environments. We use the Very Large Telescope (VLT) MUSE (Multi Unit Spectroscopic Explorer) legacy data set covering the central 35 arcmin(2) (similar to 12 kpc(2)) of the nearby galaxy NGC 300 to quantify the effect of stellar feedback as a function of the local galactic environment. We extract spectra from emission line regions identified within dendrograms, combine emission line ratios and line widths to distinguish between regions, planetary nebulae, and supernova remnants, and compute their ionized gas properties, gas-phase oxygen abundances, and feedback-related pressure terms. For the regions, we find that the direct radiation pressure (P-dir) and the pressure of the ionized gas (P-HII) weakly increase towards larger galactocentric radii, i.e. along the galaxy's (negative) abundance and (positive) extinction gradients. While the increase of P-HII with galactocentric radius is likely due to higher photon fluxes from lower-metallicity stellar populations, we find that the increase of P-dir is likely driven by the combination of higher photon fluxes and enhanced dust content at larger galactocentric radii. In light of the above, we investigate the effect of increased pre-supernova feedback at larger galactocentric distances (lower metallicities and increased dust mass surface density) on the ISM, finding that supernovae at lower metallicities expand into lower-density environments, thereby enhancing the impact of supernova feedback.
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| 4. |
- Della Bruna, Lorenza, et al.
(författare)
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Stellar feedback in M 83 as observed with MUSE II. Analysis of the H II region population : Ionisation budget and pre-SN feedback
- 2022
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 666
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Tidskriftsartikel (refereegranskat)abstract
- Context. Energy and momentum injected by young, massive stars into the surrounding gas play an important role in regulating further star formation and in determining the galaxy's global properties. Before supernovae begin to explode, stellar feedback consists of two main processes: radiation pressure and photoionisation.Aims. We study pre-supernova feedback and constrain the leakage of Lyman continuum (LyC) radiation in a sample of similar to 4700 H II regions in the nearby spiral galaxy M 83. We explore the impact that the galactic environment and intrinsic physical properties (metallicity, extinction, and stellar content) have on the early phases of H II region evolution.Methods. We combined VLT/MUSE observations of the ionised gas with young star cluster physical properties derived from HST multiwavelength data. We identified H II regions based on their Hα emission, and cross-matched the sample with planetary nebulae and supernova remnants to assess contaminant sources and identify evolved H II regions. We also spectroscopically identified Wolf-Rayet (WR) stars populating the star-forming regions. We estimated the physical properties of the H II regions (luminosity, size, oxygen abundance, and electron density). For each H II region, we computed the pressure of ionised gas (Pion) and the direct radiation pressure (Pdir) acting in the region, and investigated how they vary with galactocentric distance, with the physical properties of the region, and with the pressure of the galactic environment (PDE). For a subset of similar to 500 regions, we also investigated the link between the pressure terms and the properties of the cluster population (age, mass, and LyC flux). By comparing the LyC flux derived from Hα emission with the one modelled from their clusters and WRs, we furthermore constrained any escape of LyC radiation (fesc).Results. We find that Pion dominates over Pdir by at least a factor of 10 on average over the disk. Both pressure terms are strongly enhanced and become almost comparable in the central starburst region. In the disk (R ≥ 0.15Re), we observe that Pdir stays approximately constant with galactocentric distance. We note that Pdir is positively correlated with an increase in radiation field strength (linked to the negative metallicity gradient in the galaxy), while it decreases in low extinction regions, as is expected if the amount of dust to which the momentum can be imparted decreases. In addition, Pion decreases constantly for increasing galactocentric distances; this trend correlates with the decrease in extinction - indicative of more evolved and thus less compact regions - and with changes in the galactic environment (traced by a decrease in PDE). In general, we observe that H II regions near the centre are underpressured with respect to their surroundings, whereas regions in the rest of the disk are overpressured and hence expanding. We find that regions hosting younger clusters or those that have more mass in young star clusters have a higher internal pressure, indicating that clustered star formation likely plays a dominant role in setting the pressure. Finally, we estimate that only 13% of H II regions hosting young clusters and WR stars have fesc ≥ 0, which suggests that star formation taking place outside young clusters makes a non-negligible contribution to ionising H II regions.
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| 5. |
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| 6. |
- Della Bruna, Lorenza, et al.
(författare)
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Stellar feedback in M83 as observed with MUSE I. Overview, an unprecedented view of the stellar and gas kinematics and evidence of outflowing gas
- 2022
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 660
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Tidskriftsartikel (refereegranskat)abstract
- Context. Young massive stars inject energy and momentum into the surrounding gas, creating a multi-phase interstellar medium (ISM) and regulating further star formation. The main challenge of studying stellar feedback proves to be the variety of scales spanned by this phenomenon, ranging from the immediate surrounding of the stars (H II regions, 10s pc scales) to galactic-wide kiloparsec scales.Aims. We present a large mosaic (3.8 × 3.8 kpc) of the nearby spiral galaxy M83, obtained with the MUSE instrument at ESO Very Large Telescope. The integral field spectroscopy data cover a large portion of the optical disk at a resolution of ∼20 pc, allowing the characterisation of single H II regions while sampling diverse dynamical regions in the galaxy.Methods. We obtained the kinematics of the stars and ionised gas, and compared them with molecular gas kinematics observed in CO(2-1) with the ALMA telescope array. We separated the ionised gas into H II regions and diffuse ionised gas (DIG) and investigated how the fraction of Hα luminosity originating from the DIG (fDIG) varies with galactic radius.Results. We observe that both stars and gas trace the galactic disk rotation, as well as a fast-rotating nuclear component (30″ ≃ 700 pc in diameter), likely connected to secular processes driven by the galactic bar. In the gas kinematics, we observe a stream east of the nucleus (50″ ≃ 1250 pc in size), redshifted with respect to the disk. The stream is surrounded by an extended ionised gas region (1000 × 1600 pc) with enhanced velocity dispersion and a high ionisation state, which is largely consistent with being ionised by slow shocks. We interpret this feature as either the superposition of the disk and an extraplanar layer of DIG, or as a bar-driven inflow of shocked gas. A double Gaussian component fit to the Hα line also reveals the presence of a nuclear biconic structure whose axis of symmetry is perpendicular to the bar. The two cones (20″ ≃ 500 pc in size) appear blue- and redshifted along the line of sight. The cones stand out for having an Hα emission separated by up to 200 km s−1 from that of the disk, and a high velocity dispersion ∼80–200 km s−1. At the far end of the cones, we observe that the gas is consistent with being ionised by shocks. These features had never been observed before in M83; we postulate that they are tracing a starburst-driven outflow shocking into the surrounding ISM. Finally, we obtain fDIG ∼ 13% in our field of view, and observe that the DIG contribution varies radially between 0.8 and 46%, peaking in the interarm region. We inspect the emission of the H II regions and DIG in ‘BPT’ diagrams, finding that in H II regions photoionisation accounts for 99.8% of the Hα flux, whereas the DIG has a mixed contribution from photoionisation (94.9%) and shocks (5.1%).
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| 7. |
- Long, Knox S., et al.
(författare)
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Supernova Remnants in M83 as Observed with MUSE
- 2022
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 929:2
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Tidskriftsartikel (refereegranskat)abstract
- Here we describe a new study of the supernova remnants (SNRs) and SNR candidates in nearby face-on spiral galaxy M83, based primarily on MUSE integral field spectroscopy. Our revised catalog of SNR candidates in M83 has 366 objects, 81 of which are reported here for the first time. Of these, 229 lie within the MUSE observation region, 160 of which have spectra with [S ii]:Hα ratios exceeding 0.4, the value generally accepted as confirmation that an emission nebula is shock-heated. Combined with 51 SNR candidates outside the MUSE region with high [S ii]:Hα ratios, there are 211 spectroscopically confirmed SNRs in M83, the largest number of confirmed SNRs in any external galaxy. MUSE's combination of relatively high spectral resolution and broad wavelength coverage has allowed us to explore two other properties of SNRs that could serve as the basis of future SNR searches. Specifically, most of the objects identified as SNRs on the basis of [S ii]:Hα ratios exhibit more velocity broadening and lower ratios of [S iii]:[S ii] emission than H ii regions. A search for nebulae with the very broad emission lines expected from young, rapidly expanding remnants revealed none, except for the previously identified B12-174a. The SNRs identified in M83 are, with few exceptions, middle-aged interstellar medium (ISM) dominated ones. Smaller-diameter candidates show a larger range of velocity broadening and a larger range of gas densities than the larger-diameter objects, as expected if the SNRs expanding into denser gas brighten and then fade from view at smaller diameters than those expanding into a more tenuous ISM.
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| 8. |
- Ramírez-Tannus, María Claudia, et al.
(författare)
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XUE : Molecular Inventory in the Inner Region of an Extremely Irradiated Protoplanetary Disk
- 2023
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Ingår i: Astrophysical Journal Letters. - 2041-8205 .- 2041-8213. ; 958:2
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Tidskriftsartikel (refereegranskat)abstract
- We present the first results of the eXtreme UV Environments (XUE) James Webb Space Telescope (JWST) program, which focuses on the characterization of planet-forming disks in massive star-forming regions. These regions are likely representative of the environment in which most planetary systems formed. Understanding the impact of environment on planet formation is critical in order to gain insights into the diversity of the observed exoplanet populations. XUE targets 15 disks in three areas of NGC 6357, which hosts numerous massive OB stars, including some of the most massive stars in our Galaxy. Thanks to JWST, we can, for the first time, study the effect of external irradiation on the inner (<10 au), terrestrial-planet-forming regions of protoplanetary disks. In this study, we report on the detection of abundant water, CO, 12CO2, HCN, and C2H2 in the inner few au of XUE 1, a highly irradiated disk in NGC 6357. In addition, small, partially crystalline silicate dust is present at the disk surface. The derived column densities, the oxygen-dominated gas-phase chemistry, and the presence of silicate dust are surprisingly similar to those found in inner disks located in nearby, relatively isolated low-mass star-forming regions. Our findings imply that the inner regions of highly irradiated disks can retain similar physical and chemical conditions to disks in low-mass star-forming regions, thus broadening the range of environments with similar conditions for inner disk rocky planet formation to the most extreme star-forming regions in our Galaxy.
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