| 1. |
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| 2. |
- Elsik, Christine G., et al.
(författare)
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The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
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Tidskriftsartikel (refereegranskat)abstract
- To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
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| 3. |
- Bensby, T., et al.
(författare)
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Chemical evolution of the Galactic bulge as traced by microlensed dwarf and subgiant stars : VI. Age and abundance structure of the stellar populations in the central sub-kpc of the Milky Way
- 2017
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 605
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Tidskriftsartikel (refereegranskat)abstract
- We present a detailed elemental abundance study of 90 F and G dwarf, turn-off, and subgiant stars in the Galactic bulge. Based on high-resolution spectra acquired during gravitational microlensing events, stellar ages and abundances for 11 elements (Na, Mg, Al, Si, Ca, Ti, Cr, Fe, Zn, Y and Ba) have been determined. Four main findings are presented: (1) a wide metallicity distribution with distinct peaks at [Fe/H] = -1.09, -0.63, -0.20, + 0.12, + 0.41; (2) a highfraction of intermediate-age to young stars where at [Fe/H] > 0 more than 35% are younger than 8 Gyr, and for [Fe/H] ≲-0.5 most stars are 10 Gyr or older; (3) several episodes of significant star formation in the bulge has been identified: 3, 6, 8, and 11 Gyr ago; (4) tentatively the "knee" in the α-element abundance trends of the sub-solar metallicity bulge is located at a slightly higher [Fe/H] than in the local thick disk. These findings show that the Galactic bulge has complex age and abundance properties that appear to be tightly connected to the main Galactic stellar populations. In particular, the peaks in the metallicity distribution, the star formation episodes, and the abundance trends, show similarities with the properties of the Galactic thin and thick disks. At the same time, the star formation rate appears to have been slightly faster in the bulge than in the local thick disk, which most likely is an indication of the denser stellar environment closer to the Galactic centre. There are also additional components not seen outside the bulge region, and that most likely can be associated with the Galactic bar. Our results strengthen the observational evidence that support the idea of a secular origin for the Galactic bulge, formed out of the other main Galactic stellar populations present in the central regions of our Galaxy. Additionally, our analysis of this enlarged sample suggests that the (V-I)0 colour of the bulge red clump should be revised to 1.09.
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| 4. |
- Carninci, P, et al.
(författare)
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The transcriptional landscape of the mammalian genome
- 2005
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Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 309:5740, s. 1559-1563
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Tidskriftsartikel (refereegranskat)abstract
- This study describes comprehensive polling of transcription start and termination sites and analysis of previously unidentified full-length complementary DNAs derived from the mouse genome. We identify the 5′ and 3′ boundaries of 181,047 transcripts with extensive variation in transcripts arising from alternative promoter usage, splicing, and polyadenylation. There are 16,247 new mouse protein-coding transcripts, including 5154 encoding previously unidentified proteins. Genomic mapping of the transcriptome reveals transcriptional forests, with overlapping transcription on both strands, separated by deserts in which few transcripts are observed. The data provide a comprehensive platform for the comparative analysis of mammalian transcriptional regulation in differentiation and development.
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| 5. |
- Chaboyer, B., et al.
(författare)
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Testing Metal-poor Stellar Models and Isochrones with HST Parallaxes of Metal-poor Stars
- 2017
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Ingår i: Astrophysical Journal. - : IOP PUBLISHING LTD. - 0004-637X .- 1538-4357. ; 835:2
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Tidskriftsartikel (refereegranskat)abstract
- Hubble Space Telescope (HST) fine guidance sensor observations were used to obtain parallaxes of eight metal-poor ([Fe/H] < -1.4) stars. The parallaxes of these stars determined by the new Hipparcos reduction average 17% accuracy, in contrast to our new HST parallaxes, which average 1% accuracy and have errors on the individual parallaxes ranging from 85 to 144 mu as. These parallax data were combined with HST Advanced Camera for Surveys photometry in the F606W and F814W filters to obtain the absolute magnitudes of the stars with an accuracy of 0.02-0.03 mag. Six of these stars are on the main sequence (MS) (with -2.7 < [Fe/H] < -1.8) and are suitable for testing metal-poor stellar evolution models and determining the distances to metal-poor globular clusters (GCs). Using the abundances obtained by O'Malley et al., we find that standard stellar models using the VandenBerg & Clem color transformation do a reasonable job of matching five of the MS stars, with HD 54639 ([Fe/H] = -2.5) being anomalous in its location in the color-magnitude diagram. Stellar models and isochrones were generated using a Monte Carlo analysis to take into account uncertainties in the models. Isochrones that fit the parallax stars were used to determine the distances and ages of nine GCs (with -2.4 <= [Fe/H] <= -1.9). Averaging together the age of all nine clusters led to an absolute age of the oldest, most metal-poor GCs of 12.7 +/- 1.0 Gyr, where the quoted uncertainty takes into account the known uncertainties in the stellar models and isochrones, along with the uncertainty in the distance and reddening of the clusters.
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| 7. |
- Beasley, W., et al.
(författare)
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Image-based Data Mining to Probe Dosimetric Correlates of Radiation-induced Trismus
- 2018
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Ingår i: International Journal of Radiation Oncology Biology Physics. - : Elsevier BV. - 0360-3016. ; 102:4, s. 1330-1338
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To identify imaged regions in which dose is associated with radiation-induced trismus after head and neck cancer radiation therapy (HNRT) using a novel image-based data mining (IBDM) framework. Methods and Materials: A cohort of 86 HNRT patients were analyzed for region identification. Trismus was characterized as a continuous variable by the maximum incisor-to-incisor opening distance (MID) at 6 months after radiation therapy. Patient anatomies and dose distributions were spatially normalized to a common frame of reference using deformable image registration. IBDM was used to identify clusters of voxels associated with MID (P <= .05 based on permutation testing). The result was externally tested on a cohort of 35 patients with head and neck cancer. Internally, we also performed a dose-volume histogram-based analysis by comparing the magnitude of the correlation between MID and the mean dose for the IBDM-identified cluster in comparison with 5 delineated masticatory structures. Results: A single cluster was identified with the IBDM approach (P < .01), partially overlapping with the ipsilateral masseter. The dose-volume histogram-based analysis confirmed that the IBDM cluster had the strongest association with MID, followed by the ipsilateral masseter and the ipsilateral medial pterygoid (Spearman's rank correlation coefficients: R-s = -0.36, -0.35, -0.32; P = .001, .001, .002, respectively). External validation confirmed an association between mean dose to the IBDM cluster and MID (R-s = -0.45; P = .007). Conclusions: IBDM bypasses the common assumption that dose patterns within structures are unimportant. Our novel IBDM approach for continuous outcome variables successfully identified a cluster of voxels that are highly associated with trismus, overlapping partially with the ipsilateral masseter. Tests on an external validation cohort showed an even stronger correlation with trismus. These results support use of the region in HNRT treatment planning to potentially reduce trismus. (C) 2018 Elsevier Inc. All rights reserved.
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| 8. |
- Schoerck, T, et al.
(författare)
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The stellar content of the Hamburg/ESO survey V. The metallicity distribution function of the Galactic halo
- 2009
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 507:2, s. 817-832
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Tidskriftsartikel (refereegranskat)abstract
- We determine the metallicity distribution function (MDF) of the Galactic halo by means of a sample of 1638 metal-poor stars selected from the Hamburg/ESO objective-prism survey (HES). The sample was corrected for minor biases introduced by the strategy for spectroscopic follow-up observations of the metal-poor candidates, namely "best and brightest stars first". Comparison of the metallicities [Fe/H] of the stars determined from moderate-resolution (i.e., R similar to 2000) follow-up spectra with results derived from abundance analyses based on high-resolution spectra (i.e., R > 20 000) shows that the [Fe/H] estimates used for the determination of the halo MDF are accurate to within 0.3 dex, once highly C-rich stars are eliminated. We determined the selection function of the HES, which must be taken into account for a proper comparison between the HES MDF with MDFs of other stellar populations or those predicted by models of Galactic chemical evolution. The latter show a reasonable agreement with the overall shape of the HES MDF for [Fe/H] > -3.6, but only a model of Salvadori et al. (2007) with a critical metallicity for low-mass star formation of Z(cr) = 10(-3.4) Z(circle dot) reproduces the sharp drop at [Fe/H] similar to -3.6 present in the HES MDF. Although currently about ten stars at [Fe/H] < -3.6 are known, the evidence for the existence of a tail of the halo MDF extending to [Fe/H] similar to -5.5 is weak from the sample considered in this paper, because it only includes two stars [Fe/H] < -3.6. Therefore, a comparison with theoretical models has to await larger statistically complete and unbiased samples. A comparison of the MDF of Galactic globular clusters and of dSph satellites to the Galaxy shows qualitative agreement with the halo MDF, derived from the HES, once the selection function of the latter is included. However, statistical tests show that the differences between these are still highly significant.
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| 9. |
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| 10. |
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| 11. |
- Feltzing, Sofia, et al.
(författare)
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Thin and Thick Disk Results for α-, r- and s-Process Elements
- 2004
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Ingår i: Carnegie Observatories Astrophysics Series, Vol. 4: Origin and Evolution of the Elements. ; 4
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Konferensbidrag (refereegranskat)abstract
- We present the first results from several ongoing studies of the stellara bundances, ages, and chemical trends in the long-lived dwarf stars in the solar neighborhood that belong to the thin and thick galactic disk.We confirm that the trends of α-elements in the thin and thick disk are distinct, and we also find that the thick disk show the typical signature of SN Ia contribution to the chemical enrichment of the interstellar gas out of which the later generations of thick disk stars formed. From a first study of the r- and s-process elements we reportpreliminary evidence that AGB stars also have contributed to the chemical enrichment in the thick disk. Furthermore, we investigate the individual as well as the collective ages of the thick disk stars andfind evidence of an overall age-metallicity relation in the thick disk.This has, to our best knowledge, not been shown before. All this indicate that the star formation in what is today's thick disk was extended over time and, at least for the stars that are today close tothe sun, the gas which the stars formed out of was well-mixed. These findings seem to rule out scenarios where the thick disk formed in a fast dissipative collapse.
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| 12. |
- Gazdagh, Gabriella, et al.
(författare)
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Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature
- 2023
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley-Blackwell. - 1552-4825 .- 1552-4833. ; 191:7, s. 1722-1740
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Forskningsöversikt (refereegranskat)abstract
- The TRIO gene encodes a rho guanine exchange factor, the function of which is to exchange GDP to GTP, and hence to activate Rho GTPases, and has been described to impact neurodevelopment. Specific genotype-to-phenotype correlations have been established previously describing striking differentiating features seen in variants located in specific domains of the TRIO gene that are associated with opposite effects on RAC1 activity. Currently, 32 cases with a TRIO gene alteration have been published in the medical literature. Here, we report an additional 25, previously unreported individuals who possess heterozygous TRIO variants and we review the literature. In addition, functional studies were performed on the c.4394A > G (N1465S) and c.6244-2A > G TRIO variants to provide evidence for their pathogenicity. Variants reported by the current study include missense variants, truncating nonsense variants, and an intragenic deletion. Clinical features were previously described and included developmental delay, learning difficulties, microcephaly, macrocephaly, seizures, behavioral issues (aggression, stereotypies), skeletal problems including short, tapering fingers and scoliosis, dental problems (overcrowding/delayed eruption), and variable facial features. Here, we report clinical features that have not been described previously, including specific structural brain malformations such as abnormalities of the corpus callosum and ventriculomegaly, additional psychological and dental issues along with a more recognizable facial gestalt linked to the specific domains of the TRIO gene and the effect of the variant upon the function of the encoded protein. This current study further strengthens the genotype-to-phenotype correlation that was previously established and extends the range of phenotypes to include structural brain abnormalities, additional skeletal, dental, and psychiatric issues.
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| 13. |
- J.G., Cohen, et al.
(författare)
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Abundances In Very Metal-Poor Dwarf Stars
- 2004
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Ingår i: Astrophysical Journal. - 0004-637X. ; 603:2, s. 1107-1135
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- We discuss the detailed composition of 28 extremely metal-poor (EMP) dwarfs, 22 of which are from the Hamburg/ESO Survey (HES), based on Keck echelle spectra. Our sample has a median [Fe/H] of -2.7 dex, extends to -3.5 dex, and is somewhat less metal-poor than was expected from [Fe/H](HK, HES) determined from low-resolution spectra. Our analysis supports the existence of a sharp decline in the distribution of halo stars with metallicity below [Fe/H]=-3.0 dex. So far no additional turnoff stars with [Fe/H]<-3.5 have been identified in our follow-up efforts. For the best-observed elements between Mg and Ni, we find that the abundance ratios appear to have reached a plateau, i.e., [X/Fe] is approximately constant as a function of [Fe/H], except for Cr, Mn, and Co, which show trends of abundance ratios varying with [Fe/H]. These abundance ratios at low metallicity correspond approximately to the yield expected from Type II supernovae (SNe) with a narrow range in mass and explosion parameters; high-mass Type II SN progenitors are required. The dispersion of [X/Fe] about this plateau level is surprisingly small and is still dominated by measurement errors rather than intrinsic scatter. These results place strong constraints on the characteristics of the contributing SNe. The dispersion in neutron-capture elements and the abundance trends for Cr, Mn, and Co are consistent with previous studies of evolved EMP stars. We find halo-like enhancements for the α-elements Mg, Ca, and Ti, but solar Si/Fe ratios for these dwarfs. This contrasts with studies of EMP giant stars, which show Si enhancements similar to other α-elements. Sc/Fe is another case where the results from EMP dwarfs and from EMP giants disagree; our Sc/Fe ratios are enhanced compared to the solar value by ~0.2 dex. Although this conflicts with the solar Sc/Fe values seen in EMP giants, we note that α-like Sc/Fe ratios have been claimed for dwarfs at higher metallicity. Two dwarfs in the sample are carbon stars, while two others have significant C enhancements, all with 12C/13C ~7 and with C/N between 10 and 150. Three of these C-rich stars have large enhancements of the heavy neutron capture elements, including lead, which implies a strong s-process contribution, presumably from binary mass transfer; the fourth shows no excess of Sr or Ba.
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| 14. |
- Martins, Inês S., et al.
(författare)
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Widespread shifts in body size within populations and assemblages
- 2023
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Ingår i: Science. - 0036-8075 .- 1095-9203. ; 381:6662, s. 1067-1071
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Tidskriftsartikel (refereegranskat)abstract
- Biotic responses to global change include directional shifts in organismal traits. Body size, an integrative trait that determines demographic rates and ecosystem functions, is thought to be shrinking in the Anthropocene. Here, we assessed the prevalence of body size change in six taxon groups across 5025 assemblage time series spanning 1960 to 2020. Using the Price equation to partition this change into within-species body size versus compositional changes, we detected prevailing decreases in body size through time driven primarily by fish, with more variable patterns in other taxa. We found that change in assemblage composition contributes more to body size changes than within-species trends, but both components show substantial variation in magnitude and direction. The biomass of assemblages remains quite stable as decreases in body size trade off with increases in abundance.
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