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| 2. |
- Birney, Ewan, et al.
(författare)
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
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Tidskriftsartikel (refereegranskat)abstract
- We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
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| 3. |
- Huyghe, Jeroen R, et al.
(författare)
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Genetic architectures of proximal and distal colorectal cancer are partly distinct
- 2021
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Ingår i: Gut. - : BMJ Publishing Group Ltd. - 0017-5749 .- 1468-3288. ; 70:7, s. 1325-1334
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Tidskriftsartikel (refereegranskat)abstract
- Objective: An understanding of the etiologic heterogeneity of colorectal cancer (CRC) is critical for improving precision prevention, including individualized screening recommendations and the discovery of novel drug targets and repurposable drug candidates for chemoprevention. Known differences in molecular characteristics and environmental risk factors among tumors arising in different locations of the colorectum suggest partly distinct mechanisms of carcinogenesis. The extent to which the contribution of inherited genetic risk factors for CRC differs by anatomical subsite of the primary tumor has not been examined.Design: To identify new anatomical subsite-specific risk loci, we performed genome-wide association study (GWAS) meta-analyses including data of 48 214 CRC cases and 64 159 controls of European ancestry. We characterised effect heterogeneity at CRC risk loci using multinomial modelling.Results: We identified 13 loci that reached genome-wide significance (p<5×10-8) and that were not reported by previous GWASs for overall CRC risk. Multiple lines of evidence support candidate genes at several of these loci. We detected substantial heterogeneity between anatomical subsites. Just over half (61) of 109 known and new risk variants showed no evidence for heterogeneity. In contrast, 22 variants showed association with distal CRC (including rectal cancer), but no evidence for association or an attenuated association with proximal CRC. For two loci, there was strong evidence for effects confined to proximal colon cancer.Conclusion: Genetic architectures of proximal and distal CRC are partly distinct. Studies of risk factors and mechanisms of carcinogenesis, and precision prevention strategies should take into consideration the anatomical subsite of the tumour.
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- Bentley, Michael J., et al.
(författare)
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A community-based geological reconstruction of Antarctic Ice Sheet deglaciation since the Last Glacial Maximum
- 2014
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Ingår i: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791 .- 1873-457X. ; 100, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- A robust understanding of Antarctic Ice Sheet deglacial history since the Last Glacial Maximum is important in order to constrain ice sheet and glacial-isostatic adjustment models, and to explore the forcing mechanisms responsible for ice sheet retreat. Such understanding can be derived from a broad range of geological and glaciological datasets and recent decades have seen an upsurge in such data gathering around the continent and Sub-Antarctic islands. Here, we report a new synthesis of those datasets, based on an accompanying series of reviews of the geological data, organised by sector. We present a series of timeslice maps for 20 ka, 15 ka, 10 ka and 5 ka, including grounding line position and ice sheet thickness changes, along with a clear assessment of levels of confidence. The reconstruction shows that the Antarctic Ice sheet did not everywhere reach the continental shelf edge at its maximum, that initial retreat was asynchronous, and that the spatial pattern of deglaciation was highly variable, particularly on the inner shelf. The deglacial reconstruction is consistent with a moderate overall excess ice volume and with a relatively small Antarctic contribution to meltwater pulse la. We discuss key areas of uncertainty both around the continent and by time interval, and we highlight potential priorities for future work. The synthesis is intended to be a resource for the modelling and glacial geological community.
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| 5. |
- Brant, William R., et al.
(författare)
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Local structure transformations promoting high lithium diffusion in defect perovskite type structures
- 2023
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Ingår i: Electrochimica Acta. - : Elsevier. - 0013-4686 .- 1873-3859. ; 441
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Tidskriftsartikel (refereegranskat)abstract
- Defect perovskites, AxBO3 such as (Li3xLa2/3-x)TiO3, are attracting attention as high capacity electrodes in lithium-ion batteries. However, the mechanism enabling high lithium storage capacities has not been fully investigated. In this work, the reversible insertion and removal of lithium up to an average A-site cavity occupancy of 1.71 in the defect perovskite (Li0.18Sr0.66)(Ti0.5Nb0.5)O3 is investigated. It was shown that subtle lithium reorganization during lithiation has a significant impact on enabling high capacity. Contrary to previous studies, lithium was coordinated to triangular faces of Ti/Nb oxygen octahedra and offset from O4 windows between A-site cavities in the as-synthesised material. Upon electrochemical lithiation Li-Li repulsion redistributes of all the lithium towards the O4 window position resulting in a loss of lithium mobility. Surprisingly, the mobility is regained during over-lithiation and following multiple electrochemical cycles. It is suggested that lithium reorganisation into the center of the O4 window alleviates the Li-Li repulsion and modifies the diffusion behavior from site percolation to bond percolation. The results obtained provide valuable insight into the chemical drivers enabling higher capacities and enhanced diffusion in defect perovskites. More broadly the study delivers fundamental understanding on the non-equilibrium structural transformations occurring within electrode materials during repeated electrochemical cycles.
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| 6. |
- Brant, William R., et al.
(författare)
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Rapid Lithium Insertion and Location of Mobile Lithium in the Defect Perovskite Li0.18Sr0.66Ti0.5Nb0.5O3
- 2012
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Ingår i: ChemPhysChem. - : Wiley-Blackwell. - 1439-4235 .- 1439-7641. ; 13:9, s. 2293-2296
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Tidskriftsartikel (refereegranskat)abstract
- Fast and fancy: Lithium that was originally disordered within the structure of the perovskite Li0.18Sr0.66Ti0.5Nb0.5O3 can be induced into ordering within the yellow region of the unit cell by low temperatures and treatment with n-butyl-lithium. The fast kinetics of lithium insertion, in connection with a color change, make this nontoxic, air-stable material a suitable candidate for use in electrochromic systems or lithium-storage batteries.
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| 7. |
- Kohli, Manpreet K, et al.
(författare)
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Extremely low genetic diversity in a circumpolar dragonfly species, Somatochlora sahlbergi (Insecta: Odonata: Anisoptera)
- 2018
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Ingår i: Scientific Reports. - London : Nature Publishing Group. - 2045-2322. ; 8, s. 1-10
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Tidskriftsartikel (refereegranskat)abstract
- We present the first empirical treatment of the northernmost breeding dragonfly, Somatochlora sahlbergi. We sequenced populations from United States, Canada, Finland, Sweden and Norway for cytochrome oxidase I (COI) and D2 region of 28s. We found that, despite geographic barriers across its vast arctic range, S. sahlbergi is a single species. Not only does it appear to interbreed across its entire range, there also seems to be almost no variation among European and North American populations in their COI gene fragment (the barcode gene), which is usually extremely variable. We further found that characters thought to be diagnostic for the larvae of S. sahlbergi were absent in our European samples. We review and re-describe the habitat of this species based on new findings from recent field observations. Finally, we report for the first time the likely presence of this species in Japan. We hope our findings will encourage further study of this species and other under-studied insect taxa that inhabit the remote Arctic.
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