Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index.

The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity.

Fossil resource depletion and climate change emissions: the role of physical constrictions

[spa] En lo que concierne al cambio climático, los pronósticos de cercanos picos de combustible fósiles parecen buenas noticias pues la mayoría de las emisiones proceden de la quema de combustibles fósiles. Sin embargo, esto podría resultar engañoso de confirmarse las enormes estimaciones de reservas de carbón pues puede divisarse un intercambio de combustible fósiles con baja concentración de carbono (petróleo y gas) por otros de mayor (carbón). Ciñéndonos a esta hipótesis desarrollamos escenarios donde tan pronto el petróleo y el gas natural alcanzan su cénit la extracción de carbón crece lo necesario para compensar el descenso de los primeros. Estimamos las emisiones que se deriva de tales supuestos y las comparamos con el peor escenario del IPCC. Si bien dicho escenario parece improbable concluimos que los picos de petróleo y gas no son suficientes para evitar peligrosas sendas de gases de efecto invernadero. Las concentraciones de CO2 halladas superan con creces las 450 ppm sin signos de remisión.

Decomposing Cross-Country Gaps in Obesity and Overweight: Does the Social Environment Matter?

[cat] Una qüestió clau sobre la producció de salut relativament poc explorada es refereix a la influència dels factors socioeconòmics i mediambientals sobre el pes i l’obesitat. Aquesta problemàtica adquireix particular rellevància quan es comparen dos països Mediterranis com Itàlia i Espanya. És interessant adonar-se que l’obesitat a Espanya és 5 punts percentual més elevada al 2003 mentre que a l’any 1990 era aproximadament la mateixa en ambdós països. Aquesta article presenta una descomposició no lineal dels gaps o diferencials en taxes de sobrepès (índex de massa corporal – IMC- entre 25 i 29.9 9 kg/m2), obesitat classe 1 (IMC≥30 kg/m2) i classe 2 (IMC≥35 kg/m2) entre Espanya i Itàlia per gènere i grups d’edat. En explicar aquests gaps entre països aïllem les influències dels estils de vida, els efectes socioeconòmics i els mediambientals. Els nostres resultats indiquen que quan no es controla pels efectes mediambientals (efectes de grup o ‘peer effects’) els hàbits alimentaris i el nivell educatiu són els principals predictors del gaps totals entre països (36-52%), si bé aquests dos factors exerceixen un impacte diferenciat segons gènere i edat. Un tant paradoxalment, quan controlem pels efectes de grup aquests predictors perden la seva capacitat explicativa i els efectes de grup passen a explicar entre el 46-76% dels gaps en sobrepès i obesitat i mostren un patró creixent amb l’edat.

liber inscriptus : Concordia discordantium generalium, quae brocarda dicuntur : praesixus index

Mazarinaeus

Predicting future distributions of mountain plants under climate change: does dispersal capacity matter?

Many studies have investigated the impacts that climate change could potentially have on the distribution of plant species, but few have attempted to constrain projections through plant dispersal limitations. Instead, most studies published so far have been using the simplification of considering dispersal as either unlimited or null. However, depending on a species' dispersal capacity, landscape fragmentation, and the rate of climatic change, these assumptions can lead to serious over- or underestimation of a species' future distribution. To quantify the discrepancies between unlimited, realistic, and no dispersal scenarios, we carried out projections of future distribution over the 21st century for 287 mountain plant species in a study area of the Western Swiss Alps. For each species, simulations were run for four dispersal scenarios (unlimited dispersal, no dispersal, realistic dispersal and realistic dispersal with long-distance dispersal events) and under four climate change scenarios. Although simulations accounting for realistic dispersal limitations did significantly differ from those considering dispersal as unlimited or null in terms of projected future distribution, using the unlimited dispersal simplification nevertheless provided good approximations for species extinctions under more moderate climate change scenarios. Overall, simulations accounting for dispersal limitations produced, for our mountainous study area, results that were significantly closer to unlimited dispersal than to no dispersal. Finally, analyzing the temporal pattern of species extinctions over the entire 21st century showed that, due to the possibility of a large number of species shifting their distribution to higher elevation, important species extinctions for our study area might not occur before the 2080-2100 time periods.

Prevalence of low fat-free mass index and high and very high body fat mass index following lung transplantation.

The aim of this study was to determine the prevalence of low fat-free mass index (FFMI) and high and very high body fat mass index (BFMI) after lung transplantation (LTR). A total of 37 LTR patients were assessed prior to and at 1 month, 1 year and 2 years for FFM and compared to 37 matched volunteers (VOL). FFM was calculated by the Geneva equation and normalized for height (kg/m(2)). Subjects were classified as FFMI "low", <or=17.4 in men and <or=15.0 in women; BFMI "high", 5.2-8.1 in men and 8.3-11.7 in women; or "very high" >8.2 kg/m(2) in men and >11.8 kg/m(2) in women. In 23 M/14 F, body mass index (BMI) was 22.3+/-4.4 and 20.1+/-4.9 kg/m(2), respectively. The prevalence of low FFMI was 80% at 1 month and 33% at 2 years after LTR. Prevalence of very high BFMI increased and was higher in patients than VOL after LTR. The prevalence of low FFMI was high prior to and remained important 2 years after LTR, whereas BFMI was lower prior to and higher 2 years after LTR.

Debris flow modeling for susceptibility mapping at regional to national scale in Norway

Debris flows and related landslide processes occur in many regions all over Norway and pose a significant hazard to inhabited areas. Within the framework of the development of a national debris flows susceptibility map, we are working on a modeling approach suitable for Norway with a nationwide coverage. The discrimination of source areas is based on an index approach, which includes topographic parameters and hydrological settings. For the runout modeling, we use the Flow-R model (IGAR, University of Lausanne), which is based on combined probabilistic and energetic algorithms for the assessment of the spreading of the flow and maximum runout distances. First results for different test areas have shown that runout distances can be modeled reliably. For the selection of source areas, however, additional factors have to be considered, such as the lithological and quaternary geological setting, in order to accommodate the strong variation in debris flow activity in the different geological, geomorphological and climate regions of Norway.

Ecological-economic optimization of biodiversity conservation under climate change

Substantial investment in climate change research has led to dire predictions of the impacts and risks to biodiversity. The Intergovernmental Panel on Climate Change fourth assessment report(1) cites 28,586 studies demonstrating significant biological changes in terrestrial systems(2). Already high extinction rates, driven primarily by habitat loss, are predicted to increase under climate change(3-6). Yet there is little specific advice or precedent in the literature to guide climate adaptation investment for conserving biodiversity within realistic economic constraints(7). Here we present a systematic ecological and economic analysis of a climate adaptation problem in one of the world's most species-rich and threatened ecosystems: the South African fynbos. We discover a counterintuitive optimal investment strategy that switches twice between options as the available adaptation budget increases. We demonstrate that optimal investment is nonlinearly dependent on available resources, making the choice of how much to invest as important as determining where to invest and what actions to take. Our study emphasizes the importance of a sound analytical framework for prioritizing adaptation investments(4). Integrating ecological predictions in an economic decision framework will help support complex choices between adaptation options under severe uncertainty. Our prioritization method can be applied at any scale to minimize species loss and to evaluate the robustness of decisions to uncertainty about key assumptions.

MM-GBSA binding free energy decomposition and T cell receptor engineering.

Recognition by the T-cell receptor (TCR) of immunogenic peptides (p) presented by class I major histocompatibility complexes (MHC) is the key event in the immune response against virus infected cells or tumor cells. The major determinant of T cell activation is the affinity of the TCR for the peptide-MHC complex, though kinetic parameters are also important. A study of the 2C TCR/SIYR/H-2Kb system using a binding free energy decomposition (BFED) based on the MM-GBSA approach had been performed to assess the performance of the approach on this system. The results showed that the TCR-p-MHC BFED including entropic terms provides a detailed and reliable description of the energetics of the interaction (Zoete and Michielin, 2007). Based on these results, we have developed a new approach to design sequence modifications for a TCR recognizing the human leukocyte antigen (HLA)-A2 restricted tumor epitope NY-ESO-1. NY-ESO-1 is a cancer testis antigen expressed not only in melanoma, but also on several other types of cancers. It has been observed at high frequencies in melanoma patients with unusually positive clinical outcome and, therefore, represents an interesting target for adoptive transfer with modified TCR. Sequence modifications of TCR potentially increasing the affinity for this epitope have been proposed and tested in vitro. T cells expressing some of the proposed TCR mutants showed better T cell functionality, with improved killing of peptide-loaded T2 cells and better proliferative capacity compared to the wild type TCR expressing cells. These results open the door of rational TCR design for adoptive transfer cancer therapy.

Growth of and partitioning between shoot and storage root of carrot in a northern climate

Selostus: Porkkanan kasvu ja biomassan jakautuminen varastojuuren ja verson välillä pohjoisissa oloissa

Decomposition of Ruppia cirrhosa (Petagna) Grande in the sediment of a coastal lagoon

The decomposition process of Ruppia cirrhosa was studied in a Mediterranean coastal lagoon in the Delta of the River Ebro (NE Spain). Leaves and shoots of Ruppia were enclosed in 1 mm-mesh and 100 pm-mesh litter bags to ascertain the effect of detritivores, macroinvertebrates, and bacteria and fungi, respectively. Changes in biomass and carbon, and, nitrogen and phosphorus concentrations in the detritus were studied at the sediment-water interface and in the sediment. Significant differences in biomass decay were observed between the two bag types. Significant differences in decomposition were observed between the two experimental conditions studied using 100 pm-mesh bags. These differences were not significant when using the 1 mm-mesh bags. The carbon content in the detritus remained constant during the decomposition process. The percentage of nitrogen increased progressively from an initial 2.4 % to 3 %. The percentage of phosphorus decreased rapidly during the first two days of decomposition from an initial 0.26 % to 0.17 %. This loss is greater in the sediment than in the water column or at the sediment-water interface. From these results we deduce that the activity of microorganisms seems to be more important in the sediment than in the water-sediment interface, and that grazing by macroinvertebrates has less importance in the sediment than in the water column.

Benthic macroinvertebrates assemblages and macrohabitat connectivity in Mediterranean-climate streams of northern California

Abstract. Drought leads to a loss of longitudinal and lateral hydrologic connectivity, which causes direct or indirect changes in stream ecosystem properties. Changes in macrohabitat availability from a rifflepool sequence to isolated pools are among the most conspicuous consequences of connectivity loss. Macroinvertebrate assemblages were compared among 3 distinct stream macrohabitats (riffles [R], pools connected to riffles [Pc], disconnected pools [Pd]) of 19 Mediterranean-climate sites in northern California to examine the influence of loss of habitat resulting from drought disturbance. At the time of sampling, 10 sites were perennial and included R and Pc macrohabitats, whereas 9 sites were intermittent and included only Pd macrohabitats. Taxa richness was more variable in Pd, and taxa richness was significantly lower in Pd than in Pc but not R. These results suggested a decline in richness between Pc and Pd that might be associated with loss of connectivity. Lower Ephemeroptera, Plecoptera, and Trichoptera (EPT) richness relative to Odonata, Coleoptera, and Heteroptera (OCH) richness was observed for Pd than R and Pc macrohabitats. Family composition was more similar between R and Pc than between R or Pc and Pd macrohabitats. This similarity may be associated with greater connectivity between R and Pc macrohabitats. Correspondence analysis indicated that macroinvertebrate composition changed along a gradient from R to Pc and Pd that was related to a perennialintermittent gradient across sites. High variability among macroinvertebrate assemblages in Pd could have been related to variability in the duration of intermittency. In cluster analysis, macroinvertebrate assemblages were grouped by macrohabitat first and then by site, suggesting that the macrohabitat filter had a greater influence on macroinvertebrate assemblages than did local site characteristics. Few taxa were found exclusively in Pc, and this macrohabitat shared numerous taxa with R and Pd, indicating that Pc may act as a bridge between R and Pd during drought. Drought is regarded as a ramp disturbance, but our results suggest that the response of macroinvertebrate assemblages to the loss of hydrological connectivity among macrohabitats is gradual, at least in Mediterranean-climate streams where drying is gradual. However, the changes may be more dramatic in arid and semiarid streams or in Mediterranean-climate streams if drying is rapid.