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Pecher C.,European Academy Bozen Bolzano | Tasser E.,European Academy Bozen Bolzano | Tappeiner U.,European Academy Bozen Bolzano | Tappeiner U.,University of Innsbruck
Ecological Indicators | Year: 2011

Sustainability indicator systems often use administrative entities as a reference, which may cause overor underestimations of results within topographically different regions. Within the European Alps the highest impacts due to human activities are concentrated below the potential treeline, making these zones comparable to the potentially highly impacted surroundings of the European Alps. An application of the area below the potential treeline as a reference unit for sustainability indicators allows for a more equitable comparison of the European Alps and their surroundings. Therefore, we first developed a method for the identification of the potential treeline in the European Alps. In a second step we tested the zones below the potential treeline as a reference unit for landscape indicators. In order to obtain the position of the potential treeline, initially the highest forest areas within 7 transects throughout the Alps were identified using Corine land cover and a DEM. The correlation among the highest 10% of forest occurring within each transect was then represented by means of a polynomial regression. The resulting 7 polynomial functions were applied to the European Alps within 5 × 5km raster-cells, thus ascertaining the potential treeline. For testing the zones below the potential treeline as a reference unit for landscape indicators we selected a set of 9 landscape indicators, calculating them for 5936 Alpine municipalities. The potential treeline ascertained is able to represent the real potential treeline at a regional scale. The mean altitudes of the defined potential treeline are 2000m at the Alpine margin, and 2200-2350m in the central regions of the European Alps. While in the inner-Alpine regions the actual treeline is on average situated about 350-400m below the potential treeline, the difference is much smaller in the Alpine fringe. Identifying the difference between the potential and the actual treeline allows for the first time an assessment of the intensity of human impact in formerly forested mountain areas. The statistical analysis of the indicator results revealed strong differences among the results, with the difference increasing from the Alpine margin to inner-Alpine regions. We conclude that indicators referring to municipal areas below the potential treeline allow for a more equitable comparison of topographically different regions. Furthermore, such indicators provide detailed information of those zones within the European Alps that are subject to the highest impact due to human activities, which is of prime importance for local decision-making processes. © 2010 Elsevier Ltd. All rights reserved.

Rudisser J.,University of Innsbruck | Tasser E.,European Academy Bozen Bolzano | Peham T.,University of Innsbruck | Meyer E.,University of Innsbruck | And 2 more authors.
Ecological Indicators | Year: 2015

We conducted a comprehensive assessment of soil quality in South Tyrol, Italy by combining spatial land use and land cover data with field surveys studying soil microarthropods. The biological soil-quality index (BSQ) proposed by Parisi et al. (2005) is based on the assumption that higher soil quality is associated with the occurrence of more microarthropod groups that are well-adapted to soil habitats. We used the BSQ concept in the context of a state-wide sustainability assessment on a municipality level. Many soil animals fulfil key ecosystem functions that are the basis for significant and broadly used ecosystem services. These functions and services are essential for any sustainable agriculture type. To determine if and how BSQ values are influenced by land use characteristics, we analysed field data from 243 sampling sites comprising eleven different land cover or land use types. An ordinary least square regression (OLS) was used to assess the influence of land use types, altitude, aspect, slope and geology as independent variables on BSQ values (R2 = 0.60; p < 0.001). In addition to high variability in soil microarthropod communities, there were significant differences in BSQ values among most land use types. BSQ values were highest in forest ecosystems and lowest in arable fields. The parameters of the linear regression model were used together with spatial comprehensive GIS data to predict BSQ values spatially. The predicted values ranged from 0 to 198 and were used to calculate area-weighted mean BSQ values for all municipalities in South Tyrol. Our results show that the BSQ reacts sensitively to land use and hence can serve as an important surrogate indicator for sustainable land use practices. © 2015 Elsevier Ltd. All rights reserved.

Pecher C.,European Academy Bozen Bolzano | Tasser E.,European Academy Bozen Bolzano | Walde J.,University of Innsbruck | Tappeiner U.,European Academy Bozen Bolzano | Tappeiner U.,University of Innsbruck
Ecological Indicators | Year: 2013

The European Alps and their surroundings is a heterogeneous region, where different spatial conditions require appropriate research approaches as well as political and planning strategies. Researchers and decision makers are dependent principally on information relating to environmental and spatial characteristics in their area of interest. Up until now and following the call of Agenda 21, a significant amount of information has already been compiled in a variety of sustainability-indicator systems that also contain information on spatial conditions. The aim of the presented study was to develop a regional typology of the European Alps and their surroundings, on the basis of spatial-pattern indicators. In a first step, a set of 25 spatial-pattern indicators on topography, landscape composition, landscape pattern, and road accessibility were calculated for the 17,504 municipalities in the Alpine-Space cooperation area. The indicator results were subjected to a Principal Components Analysis (PCA) using Varimax rotation with Kaiser normalization. The PCA resulted in five components that explain 71.0% of the total variance. A PCA validation using a sub-sampling approach revealed that the PCA was valid. The PCA results were subsequently employed in a hierarchical clustering-approach using the Ward algorithm with squared Euclidean distance. The number of clusters was chosen by means of the dendrogram, according to the elbow criteria, and by reasons of interpretability. The hierarchical clustering resulted in 6 clusters. Cluster 1 represents "Non-mountainous cultural landscapes", cluster 2 "Poorly structured agricultural landscapes", cluster 3 "Agricultural landscapes, interspersed with highly structured semi-natural and natural areas", cluster 4 "Remote, highly structured cultural landscapes with a high level of insolation", cluster 5 "Mountainous, forested areas", and cluster 6 "Mountainous, semi-natural and natural open areas". Although the presented typology and its underlying analyses have some limitations, they can be applied for various purposes. The spatial-pattern indicators provide individual information for more than 17,000 municipalities in the Alpine Space. Supra-regional relationships of spatial-pattern types are offered by the five extracted components and the six clusters. The results can support researchers and stakeholders from the local to international level. © 2012 Elsevier Ltd. All rights reserved.

Rudisser J.,University of Innsbruck | Tasser E.,European Academy Bozen Bolzano | Tappeiner U.,University of Innsbruck | Tappeiner U.,European Academy Bozen Bolzano
Ecological Indicators | Year: 2012

The ongoing worldwide biodiversity crisis comes along with a growing demand for feasible environmental indicators to measure, evaluate and communicate anthropogenic influence on biodiversity. Those indicators can be useful tools for national and regional management and support decision making processes. We propose degree of naturalness (N d), distance to natural habitat (D n) and the composite index distance to nature (D 2N) as a highly comprehensible environmental indicator set that can be used as surrogate for land use related anthropogenic influence on biodiversity. A high resolution naturalness map for Austria based on the best nationwide available land use data was produced and used to test and demonstrate the applicability of the indicator set. Spatially inclusive and comprehensive indicator maps were calculated for the entire country (83,872 km 2). Exemplary indicator values for all 2359 municipalities and six altitudinal zones were calculated and evaluated. Indicator maps of Austria clearly delimitate regions with elevated anthropogenic pressure on biodiversity due to land use characteristics. A sensitivity analysis conducted to evaluate the effect of land use data with different spatial and thematic resolution on the indicators showed that D n reacts sensitive to spatially more detailed information about natural and near natural habitats. By contrast N d and D 2N were robust regarding the spatial and thematic resolution of input data. The proposed indicators do not measure biodiversity or a part of it directly, but the degree of habitat changes caused by anthropogenic land use, therefore they can be used for analysis over wide geographic ranges including different bio-geographic or climatic zones, and different spatial scales. © 2011 Elsevier Ltd. All rights reserved.

Neely G.G.,Austrian Academy of Sciences | Kuba K.,Akita University | Cammarato A.,Sanford Burnham Institute for Medical Research | Isobe K.,Akita University | And 35 more authors.
Cell | Year: 2010

Heart diseases are the most common causes of morbidity and death in humans. Using cardiac-specific RNAi-silencing in Drosophila, we knocked down 7061 evolutionarily conserved genes under conditions of stress. We present a first global roadmap of pathways potentially playing conserved roles in the cardiovascular system. One critical pathway identified was the CCR4-Not complex implicated in transcriptional and posttranscriptional regulatory mechanisms. Silencing of CCR4-Not components in adult Drosophila resulted in myofibrillar disarray and dilated cardiomyopathy. Heterozygous not3 knockout mice showed spontaneous impairment of cardiac contractility and increased susceptibility to heart failure. These heart defects were reversed via inhibition of HDACs, suggesting a mechanistic link to epigenetic chromatin remodeling. In humans, we show that a common NOT3 SNP correlates with altered cardiac QT intervals, a known cause of potentially lethal ventricular tachyarrhythmias. Thus, our functional genome-wide screen in Drosophila can identify candidates that directly translate into conserved mammalian genes involved in heart function. © 2010 Elsevier Inc.

Ameur A.,Uppsala University | Enroth S.,Uppsala University | Johansson A.,Uppsala University | Zaboli G.,Uppsala University | And 20 more authors.
American Journal of Human Genetics | Year: 2012

Omega-3 and omega-6 long-chain polyunsaturated fatty acids (LC-PUFAs) are essential for the development and function of the human brain. They can be obtained directly from food, e.g., fish, or synthesized from precursor molecules found in vegetable oils. To determine the importance of genetic variability to fatty-acid biosynthesis, we studied FADS1 and FADS2, which encode rate-limiting enzymes for fatty-acid conversion. We performed genome-wide genotyping (n = 5,652 individuals) and targeted resequencing (n = 960 individuals) of the FADS region in five European population cohorts. We also analyzed available genomic data from human populations, archaic hominins, and more distant primates. Our results show that present-day humans have two common FADS haplotypes - defined by 28 closely linked SNPs across 38.9 kb - that differ dramatically in their ability to generate LC-PUFAs. No independent effects on FADS activity were seen for rare SNPs detected by targeted resequencing. The more efficient, evolutionarily derived haplotype appeared after the lineage split leading to modern humans and Neanderthals and shows evidence of positive selection. This human-specific haplotype increases the efficiency of synthesizing essential long-chain fatty acids from precursors and thereby might have provided an advantage in environments with limited access to dietary LC-PUFAs. In the modern world, this haplotype has been associated with lifestyle-related diseases, such as coronary artery disease. © 2012 by The American Society of Human Genetics. All rights reserved.

Weissbach A.,University of Lübeck | Siegesmund K.,University of Lübeck | Bruggemann N.,University of Lübeck | Schmidt A.,University of Lübeck | And 13 more authors.
Movement Disorders | Year: 2012

Background:: Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found. Methods:: We evaluated a German family with autosomal dominantly inherited RLS in 7 definitely and 2 possibly affected members by genome-wide linkage analysis and exome sequencing. Results:: We identified three novel missense and one splice site variant in the PCDHA3, WWC2, ATRN, and FAT2 genes that segregated with RLS in the family. All four exons of the PCDHA3 gene, the most plausible candidate, were sequenced in 64 unrelated RLS cases and 250 controls. This revealed three additional rare missense variants (frequency <1%) of unknown pathogenicity in 2 patients and 1 control. Conclusions:: We present the first next-generation sequencing study on RLS and suggest PCDHA3 as a candidate gene for RLS. © 2012 Movement Disorder Society.

Culy C.,European Academy Bozen Bolzano | Lyding V.,European Academy Bozen Bolzano
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics) | Year: 2011

Large text corpora are a main language resource for the human-driven analysis of linguistic phenomena. With the ever increasing amount of data, it is vital to find ways to help people understand the data, and visualization techniques provide one way to do that. Corpus Clouds is a program which provides visualizations of different types of frequency information dynamically derived from a corpus via a standard query system, integrated with a standard KWIC display. We apply established principles from information visualization to provide dynamic, interactive representations of the query results. The selected design principles and alternatives to the implementation will be discussed and a preview on what other types of information connected to corpora can be visualized in similar ways are provided. Corpus Clouds can thus be seen as answer to the call by Collins et al. [1] to design in a principled way new visualization tools for linguistic data. © 2011 Springer-Verlag.

Pichler I.,European Academy Bozen Bolzano | Pichler I.,University of Chicago | Fuchsberger C.,European Academy Bozen Bolzano | Fuchsberger C.,University of Chicago | And 9 more authors.
European Journal of Human Genetics | Year: 2010

Although the North American Hutterites trace their origins to South Tyrol, no attempts have been made to examine the genetic migration history of the Hutterites before emigrating to the United States in the 1870s. To investigate this, we studied 9 microsatellite loci and 11 unique event polymorphism (UEP) markers on the Y-chromosome, the hypervariable region I (HVRI) of the mitochondrial DNA (mtDNA), as well as the complete mtDNA genome of Hutterite and South Tyrolean samples. Only 6 out of 14 Y-chromosome UEPmicrosatellite haplotypes and 3 out of 11 mitochondrial haplotypes that were present in the Hutterites were also present in the South Tyrolean population. The phylogenetic relationships inferred from Y-chromosome and mtDNA databases show that the Hutterites have a unique genetic background related to a similar extent to central and eastern European populations. An admixture analysis indicates, however, a relatively high genetic contribution of central European populations to the Hutterite gene pool. These results are consistent with historical records on Hutterite migrations and demographic history. In addition, our data reveal similar numbers of Y and mitochondrial haplotypes in Hutterite male and female founders, respectively. The Hutterite male and female gene pools are similar with respect to genetic diversity and genetic distance measures and comparable with respect to their origins, suggesting a similar evolutionary history. © 2010 Macmillan Publishers Limited All rights reserved.

PubMed | European Academy Bozen Bolzano
Type: Journal Article | Journal: Human molecular genetics | Year: 2011

The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was performed to identify genetic loci associated in the general population with serum levels of iron and markers of iron status, including transferrin, ferritin, soluble transferrin receptor (sTfR) and sTfR-ferritin index. We identified and replicated a novel association of a common variant in the type-2 transferrin receptor (TFR2) gene with iron levels, with effect sizes highly consistent across samples. In addition, we identified and replicated an association between the HFE locus and ferritin and confirmed previously reported associations with the TF, TMPRSS6 and HFE genes. The five replicated variants were tested for association with expression levels of the corresponding genes in a publicly available data set of human liver samples, and nominally statistically significant expression differences by genotype were observed for all genes, although only rs3811647 in the TF gene survived the Bonferroni correction for multiple testing. In addition, we measured for the first time the effects of the common variant in TMPRSS6, rs4820268, on hepcidin mRNA in peripheral blood (n = 83 individuals) and on hepcidin levels in urine (n = 529) and observed an association in the same direction, though only borderline significant. These functional findings require confirmation in further studies with larger sample sizes, but they suggest that common variants in TMPRSS6 could modify the hepcidin-iron feedback loop in clinically unaffected individuals, thus making them more susceptible to imbalances of iron homeostasis.

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