| 11. |
- Alfoeldi, Jessica, et al.
(författare)
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The genome of the green anole lizard and a comparative analysis with birds and mammals
- 2011
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 477:7366, s. 587-591
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Tidskriftsartikel (refereegranskat)abstract
- The evolution of the amniotic egg was one of the great evolutionary innovations in the history of life, freeing vertebrates from an obligatory connection to water and thus permitting the conquest of terrestrial environments(1). Among amniotes, genome sequences are available for mammals and birds(2-4), but not for non-avian reptiles. Here we report the genome sequence of the North American green anole lizard, Anolis carolinensis. We find that A. carolinensis microchromosomes are highly syntenic with chicken microchromosomes, yet do not exhibit the high GC and low repeat content that are characteristic of avian microchromosomes(2). Also, A. carolinensis mobile elements are very young and diverse-more so than in any other sequenced amniote genome. The GC content of this lizard genome is also unusual in its homogeneity, unlike the regionally variable GC content found in mammals and birds(5). We describe and assign sequence to the previously unknown A. carolinensis X chromosome. Comparative gene analysis shows that amniote egg proteins have evolved significantly more rapidly than other proteins. An anole phylogeny resolves basal branches to illuminate the history of their repeated adaptive radiations.
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| 12. |
- Anderson, Christopher D., et al.
(författare)
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Common Variants Within Oxidative Phosphorylation Genes Influence Risk of Ischemic Stroke and Intracerebral Hemorrhage
- 2013
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Ingår i: Stroke: a journal of cerebral circulation. - 1524-4628. ; 44:3, s. 612-619
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Tidskriftsartikel (refereegranskat)abstract
- Background and Purpose-Previous studies demonstrated association between mitochondrial DNA variants and ischemic stroke (IS). We investigated whether variants within a larger set of oxidative phosphorylation (OXPHOS) genes encoded by both autosomal and mitochondrial DNA were associated with risk of IS and, based on our results, extended our investigation to intracerebral hemorrhage (ICH). Methods-This association study used a discovery cohort of 1643 individuals, a validation cohort of 2432 individuals for IS, and an extension cohort of 1476 individuals for ICH. Gene-set enrichment analysis was performed on all structural OXPHOS genes, as well as genes contributing to individual respiratory complexes. Gene-sets passing gene-set enrichment analysis were tested by constructing genetic scores using common variants residing within each gene. Associations between each variant and IS that emerged in the discovery cohort were examined in validation and extension cohorts. Results-IS was associated with genetic risk scores in OXPHOS as a whole (odds ratio [OR], 1.17; P=0.008) and complex I (OR, 1.06; P=0.050). Among IS subtypes, small vessel stroke showed association with OXPHOS (OR, 1.16; P=0.007), complex I (OR, 1.13; P=0.027), and complex IV (OR, 1.14; P=0.018). To further explore this small vessel association, we extended our analysis to ICH, revealing association between deep hemispheric ICH and complex IV (OR, 1.08; P=0.008). Conclusions-This pathway analysis demonstrates association between common genetic variants within OXPHOS genes and stroke. The associations for small vessel stroke and deep ICH suggest that genetic variation in OXPHOS influences small vessel pathobiology. Further studies are needed to identify culprit genetic variants and assess their functional consequences. (Stroke. 2013;44:612-619.)
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| 13. |
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| 14. |
- Axelsson, Magnus, et al.
(författare)
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On the origin of black hole spin in high-mass black hole binaries : Cygnus X-1
- 2011
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Ingår i: Monthly notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 412:4, s. 2260-2264
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Tidskriftsartikel (refereegranskat)abstract
- To date, there have been several detections of high-mass black hole binaries in both the Milky Way and other galaxies. For some of these, the spin parameter of the black hole has been estimated. As many of these systems are quite tight, a suggested origin of the spin is angular momentum imparted by the synchronous rotation of the black hole progenitor with its binary companion. Using Cygnus X-1, the best studied high-mass black hole binary, we investigate this possibility. We find that such an origin of the spin is not likely, and our results point rather to the spin being the result of processes during the collapse.
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| 15. |
- Church, Ross, et al.
(författare)
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Implications for the origin of short gamma-ray bursts from their observed positions around their host galaxies
- 2011
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 1365-2966 .- 0035-8711. ; 413:3, s. 2004-2014
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Tidskriftsartikel (refereegranskat)abstract
- We present the observed offsets of short-duration gamma-ray bursts (SGRBs) from their putative host galaxies and compare them with the expected distributions of merging compact object binaries, given the observed properties of the hosts. We find that for all but one burst in our sample the offsets are consistent with this model. For the case of bursts with massive elliptical host galaxies, the circular velocities of the hosts' haloes exceed the natal velocities of almost all our compact object binaries. Hence, the extents of the predicted offset distributions for elliptical galaxies are determined largely by their spatial extents. In contrast, for spiral hosts, the galactic rotation velocities are smaller than typical binary natal velocities and the predicted burst offset distributions are more extended than the galaxies. One SGRB, 060502B, apparently has a large radial offset that is inconsistent with an origin in a merging galactic compact binary. Although it is plausible that the host of GRB 060502B is misidentified, our results show that the large offset is compatible with a scenario where at least a few per cent of SGRBs are created by the merger of compact binaries that form dynamically in globular clusters.
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| 16. |
- Church, Ross, et al.
(författare)
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Properties of long gamma-ray bursts from massive compact binaries.
- 2013
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Ingår i: Philosophical Transactions of the Royal Society A: Mathematical, Physical and Engineering Science. - : The Royal Society. - 1364-503X .- 1471-2962. ; 371:1992
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Tidskriftsartikel (refereegranskat)abstract
- We consider the implications of a model for long-duration gamma-ray bursts in which the progenitor is spun up in a close binary by tidal interactions with a massive black-hole companion. We investigate a sample of such binaries produced by a binary population synthesis, and show that the model predicts several common features in the accretion on to the newly formed black hole. In all cases, the accretion rate declines as approximately t(-5/3) until a break at a time of order 10(4) s. The accretion rate declines steeply thereafter. Subsequently, there is flaring activity, with the flare peaking between 10(4) and 10(5) s, the peak time being correlated with the flare energy. We show that these times are set by the semi-major axis of the binary, and hence the process of tidal spin-up; furthermore, they are consistent with flares seen in the X-ray light curves of some long gamma-ray bursts.
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| 17. |
- Church, Ross, et al.
(författare)
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The properties of long gamma-ray bursts in massive compact binaries
- 2012
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 1365-2966 .- 0035-8711. ; 425:1, s. 470-476
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Tidskriftsartikel (refereegranskat)abstract
- We consider a popular model for long-duration gamma-ray bursts, in which the progenitor star, a stripped helium core, is spun up by tidal interactions with a black hole companion in a compact binary. We perform population synthesis calculations to produce a representative sample of such binaries, and model the effect that the companion has on material that falls back on to the newly formed black hole. Taking the results of hydrodynamic models of black hole formation by fallback as our starting point, we show that the companion has two principal effects on the fallback process. First, a break forms in the accretion curve at around 104?s. Secondly, subsequent to the break, we expect to see a flare of total energy around 1050?erg. We show that the break and flare times are set largely by the semimajor axis of the binary at the time of explosion, and that this correlates negatively with the flare energy. Although comparison with observations is non-trivial, we show that our predicted break times are comparable to those found in the X-ray light curves of canonical long-duration gamma-ray bursts. Similarly, the flare properties that we predict are consistent with the late-time flares observed in a subsample of bursts.
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| 18. |
- Edwards, Ceiridwen J., et al.
(författare)
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Ancient Hybridization and an Irish Origin for the Modern Polar Bear Matriline
- 2011
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Ingår i: Current Biology. - : Elsevier BV. - 0960-9822 .- 1879-0445. ; 21:15, s. 1251-1258
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Tidskriftsartikel (refereegranskat)abstract
- Background: Polar bears (Ursus maritimus) are among those species most susceptible to the rapidly changing arctic climate, and their survival is of global concern. Despite this, little is known about polar bear species history. Future conservation strategies would significantly benefit from an understanding of basic evolutionary information, such as the timing and conditions of their initial divergence from brown bears (U. arctos) or their response to previous environmental change. Results: We used a spatially explicit phylogeographic model to estimate the dynamics of 242 brown bear and polar bear matrilines sampled throughout the last 120,000 years and across their present and past geographic ranges. Our results show that the present distribution of these matrilines was shaped by a combination of regional stability and rapid, long-distance dispersal from ice-age refugia. In addition, hybridization between polar bears and brown bears may have occurred multiple times throughout the Late Pleistocene. Conclusions: The reconstructed matrilineal history of brown and polar bears has two striking features. First, it is punctuated by dramatic and discrete climate-driven dispersal events. Second, opportunistic mating between these two species as their ranges overlapped has left a strong genetic imprint. In particular, a likely genetic exchange with extinct Irish brown bears forms the origin of the modern polar bear matriline. This suggests that interspecific hybridization not only may be more common than previously considered but may be a mechanism by which species deal with marginal habitats during periods of environmental deterioration.
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| 19. |
- Greenhalf, William, et al.
(författare)
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Pancreatic Cancer hENT1 Expression and Survival From Gemcitabine in Patients From the ESPAC-3 Trial
- 2014
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 106:1, s. djt347-
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Tidskriftsartikel (refereegranskat)abstract
- Background Human equilibrative nucleoside transporter 1 (hENT1) levels in pancreatic adenocarcinoma may predict survival in patients who receive adjuvant gemcitabine after resection. Methods Microarrays from 434 patients randomized to chemotherapy in the ESPAC-3 trial (plus controls from ESPAC-1/3) were stained with the 10D7G2 anti-hENT1 antibody. Patients were classified as having high hENT1 expression if the mean H score for their cores was above the overall median H score (48). High and low hENT1-expressing groups were compared using Kaplan-Meier curves, log-rank tests, and Cox proportional hazards models. All statistical tests were two-sided. Results Three hundred eighty patients (87.6%) and 1808 cores were suitable and included in the final analysis. Median overall survival for gemcitabine-treated patients (n = 176) was 23.4 (95% confidence interval [CI] = 18.3 to 26.0) months vs 23.5 (95% CI = 19.8 to 27.3) months for 176 patients treated with 5-fluorouracil/folinic acid (months vs 23.5 (95% CI = 19.8 to 27.3) months for 176 patients treated with 5-fluorouracil/folinic acid (chi(2)(1)=0.24; P = .62). Median survival for patients treated with gemcitabine was 17.1 (95% CI = 14.3 to 23.8) months for those with low hENT1 expression vs 26.2 (95% CI = 21.2 to 31.4) months for those with high hENT1 expression (chi(2)(1)=9.87; P = .002). For the 5-fluorouracil group, median survival was 25.6 (95% CI = 20.1 to 27.9) and 21.9 (95% CI = 16.0 to 28.3) months for those with low and high hENT1 expression, respectively (chi(2)(1) = 0.83; P = .36). hENT1 levels were not predictive of survival for the 28 patients of the observation group (chi(2)(1) = 0.37; P = .54). Multivariable analysis confirmed hENT1 expression as a predictive marker in gemcitabine-treated (Wald chi(2)(1) = 9.16; P = .003) but not 5-fluorouracil-treated (Wald chi(2)(1) = 1.22; P = .27) patients. Conclusions Subject to prospective validation, gemcitabine should not be used for patients with low tumor hENT1 expression.
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| 20. |
- Haiman, Christopher A., et al.
(författare)
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A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:12, s. 61-1210
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Tidskriftsartikel (refereegranskat)abstract
- Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 x 10(-10)). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 x 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 x 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.
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