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- Nicolas, Aude, et al.
(författare)
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- 2018
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Ingår i: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
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Tidskriftsartikel (refereegranskat)abstract
- To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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| 4. |
- Brandao, Miguel, et al.
(författare)
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Quantifying the climate change effects of bioenergy systems : Comparison of 15 impact assessment methods
- 2019
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Ingår i: Global Change Biology Bioenergy. - : Wiley. - 1757-1693 .- 1757-1707. ; 11:5, s. 727-743
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Tidskriftsartikel (refereegranskat)abstract
- Ongoing concern over climate change has led to interest in replacing fossil energy with bioenergy. There are different approaches to quantitatively estimate the climate change effects of bioenergy systems. In the present work, we have focused on a range of published impact assessment methods that vary due to conceptual differences in the treatment of biogenic carbon fluxes, the type of climate change impacts they address and differences in time horizon and time preference. Specifically, this paper reviews fifteen different methods and applies these to three hypothetical bioenergy case studies: (a) woody biomass grown on previously forested land; (b) woody biomass grown on previous pasture land; and (b) annual energy crop grown on previously cropped land. Our analysis shows that the choice of method can have an important influence on the quantification of climate change effects of bioenergy, particularly when a mature forest is converted to bioenergy use as it involves a substantial reduction in biomass carbon stocks. Results are more uniform in other case studies. In general, results are more sensitive to specific impact assessment methods when they involve both emissions and removals at different points in time, such as for forest bioenergy, but have a much smaller influence on agricultural bioenergy systems grown on land previously used for pasture or annual cropping. The development of effective policies for climate change mitigation through renewable energy use requires consistent and accurate approaches to identification of bioenergy systems that can result in climate change mitigation. The use of different methods for the same purpose: estimating the climate change effects of bioenergy systems, can lead to confusing and contradictory conclusions. A full interpretation of the results generated with different methods must be based on an understanding that the different methods focus on different aspects of climate change and represent different time preferences.
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| 5. |
- Coulson, S. J., et al.
(författare)
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Introduction of invertebrates into the High Arctic via imported soils: the case of Barentsburg in the Svalbard
- 2013
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Ingår i: Biological Invasions. - : Springer Science and Business Media LLC. - 1387-3547 .- 1573-1464. ; 15:1, s. 1-5
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Tidskriftsartikel (refereegranskat)abstract
- Forty six species of invertebrate were collected from the manure enriched imported soils below the abandoned cow sheds in the Russian mining town of Barentsburg, Svalbard. Of these, 11 (24 %) were new records for Svalbard, including Collembola, gamasid mites, Enchytraeidae and the first identified Lumbricidae. Many of the new records are species not frequently observed in the Arctic. It is hypothesized that these species arrived with the chernozem soils imported to Barentsburg for the greenhouses from central or southern European Russia, or with livestock. The observations presented here are the first records of human invertebrate introductions establishing in Svalbard outside of dwellings. It is not believed that the majority of new species records described present an immediate threat to the ecology of Svalbard but they may, especially Deuteraphorura variabilis, establish in the nutrient enriched floral communities beneath bird cliffs characteristic of Svalbard.
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| 6. |
- Coulson, S. J., et al.
(författare)
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The invertebrate fauna of anthropogenic soils in the High-Arctic settlement of Barentsburg, Svalbard
- 2013
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Ingår i: Polar Research. - : Norwegian Polar Institute. - 0800-0395 .- 1751-8369. ; 32
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Tidskriftsartikel (refereegranskat)abstract
- The terrestrial environment of the High Arctic consists of a mosaic of habitat types. In addition to the natural habitat diversity, various human-influenced types may occur. For the resident invertebrate fauna, these anthropogenic habitats may be either unusually favourable or detrimental. In the town of Barentsburg, Svalbard, soils were imported for the greenhouses from southern Russia. These soils were subsequently discarded outside the greenhouses and have become augmented with manure from the cowsheds. Both the greenhouse and the cowsheds are now derelict. This site represents an unusually nutrient-rich location with considerable development of organic soils, in stark contrast to the naturally forming organic soils in Svalbard, which are typically thin and nutrient poor. Few previous studies have examined the soil invertebrate communities of human-disturbed or -created habitats in the Arctic. In an often nutrient-poor terrestrial environment, it is unclear how the invertebrate fauna will react to such nutrient enhancement. In these soils, 46 species of invertebrates were determined. Eleven species have not been recorded from other habitats in Svalbard and are hence likely to have been introduced. The native species assemblage in the anthropogenic soils was not atypical for many natural sites in Svalbard. Despite the enriched organic soils and highly ameliorated winter temperature conditions, the soil invertebrate fauna biodiversity does not appear to be enhanced beyond the presence of certain probably introduced species.
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| 7. |
- Deans, Andrew R, et al.
(författare)
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Finding Our Way through Phenotypes.
- 2015
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Ingår i: PLoS Biology. - : Public Library of Science (PLoS). - 1545-7885. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Despite a large and multifaceted effort to understand the vast landscape of phenotypic data, their current form inhibits productive data analysis. The lack of a community-wide, consensus-based, human- and machine-interpretable language for describing phenotypes and their genomic and environmental contexts is perhaps the most pressing scientific bottleneck to integration across many key fields in biology, including genomics, systems biology, development, medicine, evolution, ecology, and systematics. Here we survey the current phenomics landscape, including data resources and handling, and the progress that has been made to accurately capture relevant data descriptions for phenotypes. We present an example of the kind of integration across domains that computable phenotypes would enable, and we call upon the broader biology community, publishers, and relevant funding agencies to support efforts to surmount today's data barriers and facilitate analytical reproducibility.
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| 8. |
- Kirschbaum, Miko U.F., et al.
(författare)
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Is tree planting an effective strategy for climate change mitigation?
- 2024
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Ingår i: Science of the Total Environment. - : Elsevier B.V.. - 0048-9697 .- 1879-1026. ; 909
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Tidskriftsartikel (refereegranskat)abstract
- The world's forests store large amounts of carbon (C), and growing forests can reduce atmospheric CO2 by storing C in their biomass. This has provided the impetus for world-wide tree planting initiatives to offset fossil-fuel emissions. However, forests interact with their environment in complex and multifaceted ways that must be considered for a balanced assessment of the value of planting trees. First, one needs to consider the potential reversibility of C sequestration in trees through either harvesting or tree death from natural factors. If carbon storage is only temporary, future temperatures will actually be higher than without tree plantings, but cumulative warming will be reduced, contributing both positively and negatively to future climate-change impacts. Alternatively, forests could be used for bioenergy or wood products to replace fossil-fuel use which would obviate the need to consider the possible reversibility of any benefits. Forests also affect the Earth's energy balance through either absorbing or reflecting incoming solar radiation. As forests generally absorb more incoming radiation than bare ground or grasslands, this constitutes an important warming effect that substantially reduces the benefit of C storage, especially in snow-covered regions. Forests also affect other local ecosystem services, such as conserving biodiversity, modifying water and nutrient cycles, and preventing erosion that could be either beneficial or harmful depending on specific circumstances. Considering all these factors, tree plantings may be beneficial or detrimental for mitigating climate-change impacts, but the range of possibilities makes generalisations difficult. Their net benefit depends on many factors that differ between specific circumstances. One can, therefore, neither uncritically endorse tree planting everywhere, nor condemn it as counter-productive. Our aim is to provide key information to enable appropriate assessments to be made under specific circumstances. We conclude our discussion by providing a step-by-step guide for assessing the merit of tree plantings under specific circumstances.
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