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Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of mitochondrial proteins are essential for mitochondrial function and a key task of AAA family members of metalloproteases. We identified a homozygous mutation in the nuclear encoded mitochondrial escape 1-like 1 gene YME1L1, member of the AAA protease family, as a cause of a novel mitochondriopathy in a consanguineous pedigree of Saudi Arabian descent. The homozygous missense mutation, located in a highly conserved region in the mitochondrial pre-sequence, inhibits cleavage of YME1L1 by the mitochondrial processing peptidase, which culminates in the rapid degradation of YME1L1 precursor protein. Impaired YME1L1 function causes a proliferation defect and mitochondrial network fragmentation due to abnormal processing of OPA1. Our results identify mutations in YME1L1 as a cause of a mitochondriopathy with optic nerve atrophy highlighting the importance of YME1L1 for mitochondrial functionality in humans.
BIOMEX (BIOlogy and Mars EXperiment) is an ESA/Roscosmos space exposure experiment housed within the exposure facility EXPOSE-R2 outside the Zvezda module on the International Space Station (ISS). The design of the multiuser facility supports-among others-the BIOMEX investigations into the stability and level of degradation of space-exposed biosignatures such as pigments, secondary metabolites, and cell surfaces in contact with a terrestrial and Mars analog mineral environment. In parallel, analysis on the viability of the investigated organisms has provided relevant data for evaluation of the habitability of Mars, for the limits of life, and for the likelihood of an interplanetary transfer of life (theory of lithopanspermia). In this project, lichens, archaea, bacteria, cyanobacteria, snow/permafrost algae, meristematic black fungi, and bryophytes from alpine and polar habitats were embedded, grown, and cultured on a mixture of martian and lunar regolith analogs or other terrestrial minerals. The organisms and regolith analogs and terrestrial mineral mixtures were then exposed to space and to simulated Mars-like conditions by way of the EXPOSE-R2 facility. In this special issue, we present the first set of data obtained in reference to our investigation into the habitability of Mars and limits of life. This project was initiated and implemented by the BIOMEX group, an international and interdisciplinary consortium of 30 institutes in 12 countries on 3 continents. Preflight tests for sample selection, results from ground-based simulation experiments, and the space experiments themselves are presented and include a complete overview of the scientific processes required for this space experiment and postflight analysis. The presented BIOMEX concept could be scaled up to future exposure experiments on the Moon and will serve as a pretest in low Earth orbit.
The Low Earth Orbit (LEO) experiment Biology and Mars Experiment (BIOMEX) is an interdisciplinary and international space research project selected by ESA. The experiment will be accommodated on the space exposure facility EXPOSE-R2 on the International Space Station (ISS) and is foreseen to be launched in 2013. The prime objective of BIOMEX is to measure to what extent biomolecules, such as pigments and cellular components, are resistant to and able to maintain their stability under space and Mars-like conditions. The results of BIOMEX will be relevant for space proven biosignature definition and for building a biosignature data base (e.g. the proposed creation of an international Raman library). The library will be highly relevant for future space missions such as the search for life on Mars. The secondary scientific objective is to analyze to what extent terrestrial extremophiles are able to survive in space and to determine which interactions between biological samples and selected minerals (including terrestrial, Moon- and Mars analogs) can be observed under space and Mars-like conditions. In this context, the Moon will be an additional platform for performing similar experiments with negligible magnetic shielding and higher solar and galactic irradiation compared to LEO. Using the Moon as an additional astrobiological exposure platform to complement ongoing astrobiological LEO investigations could thus enhance the chances of detecting organic traces of life on Mars. We present a lunar lander mission with two related objectives: a lunar lander equipped with Raman and PanCam instruments which can analyze the lunar surface and survey an astrobiological exposure platform. This dual use of testing mission technology together with geo- and astrobiological analyses will significantly increase the science return, and support the human preparation objectives. It will provide knowledge about the Moon's surface itself and, in addition, monitor the stability of life-markers, such as cells, cell components and pigments, in an extraterrestrial environment with much closer radiation properties to the surface of Mars. The combination of a Raman data base of these data together with data from LEO and space simulation experiments, will lead to further progress on the analysis and interpretation of data that we will obtain from future Moon and Mars exploration missions.
Moving in the Anthropocene
(2018)
Animal movement is fundamental for ecosystem functioning and species survival, yet the effects of the anthropogenic footprint on animal movements have not been estimated across species. Using a unique GPS-tracking database of 803 individuals across 57 species, we found that movements of mammals in areas with a comparatively high human footprint were on average one-half to one-third the extent of their movements in areas with a low human footprint. We attribute this reduction to behavioral changes of individual animals and to the exclusion of species with long-range movements from areas with higher human impact. Global loss of vagility alters a key ecological trait of animals that affects not only population persistence but also ecosystem processes such as predator-prey interactions, nutrient cycling, and disease transmission.
Water management and environmental protection is vulnerable to extreme low flows during streamflow droughts. During the last decades, in most rivers of Central Europe summer runoff and low flows have decreased. Discharge projections agree that future decrease in runoff is likely for catchments in Brandenburg, Germany. Depending on the first-order controls on low flows, different adaption measures are expected to be appropriate. Small catchments were analyzed because they are expected to be more vulnerable to a changing climate than larger rivers. They are mainly headwater catchments with smaller ground water storage. Local characteristics are more important at this scale and can increase vulnerability. This thesis mutually evaluates potential adaption measures to sustain minimum runoff in small catchments of Brandenburg, Germany, and similarities of these catchments regarding low flows. The following guiding questions are addressed: (i) Which first-order controls on low flows and related time scales exist? (ii) Which are the differences between small catchments regarding low flow vulnerability? (iii) Which adaption measures to sustain minimum runoff in small catchments of Brandenburg are appropriate considering regional low flow patterns? Potential adaption measures to sustain minimum runoff during periods of low flows can be classified into three categories: (i) increase of groundwater recharge and subsequent baseflow by land use change, land management and artificial ground water recharge, (ii) increase of water storage with regulated outflow by reservoirs, lakes and wetland water management and (iii) regional low flow patterns have to be considered during planning of measures with multiple purposes (urban water management, waste water recycling and inter-basin water transfer). The question remained whether water management of areas with shallow groundwater tables can efficiently sustain minimum runoff. Exemplary, water management scenarios of a ditch irrigated area were evaluated using the model Hydrus-2D. Increasing antecedent water levels and stopping ditch irrigation during periods of low flows increased fluxes from the pasture to the stream, but storage was depleted faster during the summer months due to higher evapotranspiration. Fluxes from this approx. 1 km long pasture with an area of approx. 13 ha ranged from 0.3 to 0.7 l\s depending on scenario. This demonstrates that numerous of such small decentralized measures are necessary to sustain minimum runoff in meso-scale catchments. Differences in the low flow risk of catchments and meteorological low flow predictors were analyzed. A principal component analysis was applied on daily discharge of 37 catchments between 1991 and 2006. Flows decreased more in Southeast Brandenburg according to meteorological forcing. Low flow risk was highest in a region east of Berlin because of intersection of a more continental climate and the specific geohydrology. In these catchments, flows decreased faster during summer and the low flow period was prolonged. A non-linear support vector machine regression was applied to iteratively select meteorological predictors for annual 30-day minimum runoff in 16 catchments between 1965 and 2006. The potential evapotranspiration sum of the previous 48 months was the most important predictor (r²=0.28). The potential evapotranspiration of the previous 3 months and the precipitation of the previous 3 months and last year increased model performance (r²=0.49, including all four predictors). Model performance was higher for catchments with low yield and more damped runoff. In catchments with high low flow risk, explanatory power of long term potential evapotranspiration was high. Catchments with a high low flow risk as well as catchments with a considerable decrease in flows in southeast Brandenburg have the highest demand for adaption. Measures increasing groundwater recharge are to be preferred. Catchments with high low flow risk showed relatively deep and decreasing groundwater heads allowing increased groundwater recharge at recharge areas with higher altitude away from the streams. Low flows are expected to stay low or decrease even further because long term potential evapotranspiration was the most important low flow predictor and is projected to increase during climate change. Differences in low flow risk and runoff dynamics between catchments have to be considered for management and planning of measures which do not only have the task to sustain minimum runoff.
With the increasing availability of observational data from different sources at a global level, joint analysis of these data is becoming especially attractive. For such an analysis – oftentimes with little prior knowledge about local and global interactions between the different observational variables at hand – an exploratory, data-driven analysis of the data may be of particular relevance. In the present work we used generalized additive models (GAM) in an exemplary study of spatio-temporal patterns in the tropospheric NO2-distribution derived from GOME satellite observations (1996 to 2001) at global scale. We focused on identifying correlations between NO2 and local wind fields, a quantity which is of particular interest in the analysis of spatio-temporal interactions. Formulating general functional, parametric relationships between the observed NO2 distribution and local wind fields, however, is difficult – if not impossible. So, rather than following a modelbased analysis testing the data for predefined hypotheses (assuming, for example, sinusoidal seasonal trends), we used a GAM with non-parametric model terms to learn this functional relationship between NO2 and wind directly from the data. The NO2 observations showed to be affected by winddominated processes over large areas. We estimated the extent of areas affected by specific NO2 emission sources, and were able to highlight likely atmospheric transport “pathways”. General temporal trends which were also part of our model – weekly, seasonal and linear changes – showed to be in good agreement with previous studies and alternative ways of analysing the time series. Overall, using a non-parametric model provided favorable means for a rapid inspection of this large spatio-temporal NO2 data set, with less bias than parametric approaches, and allowing to visualize dynamical processes of the NO2 distribution at a global scale.
A comprehensive molecular analysis of a simple aqueous complexing system. U(VI) acetate. selected to be independently investigated by various spectroscopic (vibrational, luminescence, X-ray absorption, and nuclear magnetic resonance spectroscopy) and quantum chemical methods was achieved by an international round-robin test (RRT). Twenty laboratories from six different countries with a focus on actinide or geochemical research participated and contributed to this scientific endeavor. The outcomes of this RRT were considered on two levels of complexity: first, within each technical discipline, conformities as well as discrepancies of the results and their sources were evaluated. The raw data from the different experimental approaches were found to be generally consistent. In particular, for complex setups such as accelerator-based X-ray absorption spectroscopy, the agreement between the raw data was high. By contrast, luminescence spectroscopic data turned out to be strongly related to the chosen acquisition parameters. Second, the potentials and limitations of coupling various spectroscopic and theoretical approaches for the comprehensive study of actinide molecular complexes were assessed. Previous spectroscopic data from the literature were revised and the benchmark data on the U(VI) acetate system provided an unambiguous molecular interpretation based on the correlation of spectroscopic and theoretical results. The multimethodologic approach and the conclusions drawn address not only important aspects of actinide spectroscopy but particularly general aspects of modern molecular analytical chemistry.
The classification of small catchments with respect to low flow risk is needed by water and environmental managers to plan adaptation measures for freshwater streams. In this study a new approach is presented to assess the risk of seasonal low flow in the Pleistocene landscape of the Federal State of Brandenburg in Germany. Seasonal low flow and drought in small streams is very common in this region and is predicted to increase due to climate change within the next decades. Data of 15 years (1991-2006) of daily discharge at 37 small catchments (<500 km(2)) and rainfall data from the same region were used. Principal component analyses were applied to the two data sets separately.
The first five principal components of the discharge data, principal components of a precipitation data set covering the same catchments and catchment characteristics were used to explain the patterns found. The first five discharge components explained 72.9% of the total variance in the data set. The first component reflected the general regional discharge pattern. Components 2 and 3 of the discharge data could be related to spatial patterns of precipitation. Components 4 and 5 of the discharge data reflected geohydrologic processes within the catchments. In order to identify catchments with high risk with respect to low flows, component three and five were important as they both identified catchments with faster decrease of flows during summer. These components were used to estimate low flow risk. Catchments located in the northeast of Brandenburg, especially those in the Barnim highlands north and east of Berlin, were identified to be prone to seasonal low flow. There water management measures to adapt to climate change are needed the most.
The occurrence of hypoxic conditions in plants not only represents a stress condition but is also associated with the normal development and growth of many organs, leading to adaptive changes in metabolism and growth to prevent internal anoxia. Internal oxygen concentrations decrease inside growing potato tubers, due to their active metabolism and increased resistance to gas diffusion as tubers grow. In the present work, we identified three hypoxia-responsive ERF (StHRE) genes whose expression is regulated by the gradual decrease in oxygen tensions that occur when potato tubers grow larger. Increasing the external oxygen concentration counteracted the modification of StHRE expression during tuber growth, supporting the idea that the actual oxygen levels inside the organs, rather than development itself, are responsible for the regulation of StHRE genes. We identified several sugar metabolism-related genes co-regulated with StHRE genes during tuber development and possibly involved in starch accumulation. All together, our data suggest a possible role for low oxygen in the regulation of sugar metabolism in the potato tuber, similar to what happens in storage tissues during seed development.