Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain elusive. We hypothesize that individually rare structural variants contribute to the illness. Microdeletions and microduplications >100 kilobases were identified by microarray comparative genomic hybridization of genomic DNA from 150 individuals with schizophrenia and 268 ancestry-matched controls. All variants were validated by high-resolution platforms. Novel deletions and duplications of genes were present in 5% of controls versus 15% of cases and 20% of young-onset cases, both highly significant differences. The association was independently replicated in patients with childhood-onset schizophrenia as compared with their parents. Mutations in cases disrupted genes disproportionately from signaling networks controlling neurodevelopment, including neuregulin and glutamate pathways. These results suggest that multiple, individually rare mutations altering genes in neurodevelopmental pathways contribute to schizophrenia.     

The Impact of Biochar Addition on Nutrient Leaching and Soil Properties from Tillage Soil Amended with Pig Manure

Poses dam in the Seine River estuary acts as receptacle of water drain-offs from highly urbanized and industrialized catchment area; therefore, this water is highly contaminated by trace metals. Most trace elements are mainly bound to particulate matter and are incorporated rapidly into the sediments. Scavenging of these metals in the sediments can be reversible due to several perturbations so as sediments also act as a source of pollutants for the overlying water. For instance, natural events (tide, flood, storm) and anthropogenic processes (water management actions) can cause disturbance of sediments and subsequent remobilization of pollutants to the water column, thereby posing a potential threat for aquatic organisms. The purpose of this study was to evaluate the mobility of trace metals by different methods in the Seine estuary sediments. The surface sediment sampled at Poses dam was characterized by high pollution level of Cd, Cu, Zn, and Pb. The estimation of metal bioavailability through ratio ΣSEM/AVS (simultaneously extracted metals/acid volatile sulfides) indicates a potential bioavailability of trace metals. The chemical partitioning using the European Community of Bureau of Reference sequential extraction method revealed that over 85, 82, and 80 % of the total Cd, Zn, and Pb, respectively, were found to be associated with the exchangeable and reducible fractions of the sediment. Another approach used consists in the quantification of dissolved metals released by sediment resuspension experiments in laboratory under controlled conditions. The results indicated that metals are released rapidly from sediment with a sharp peak at the beginning of the experiment, followed by a fast coprecipitation and/or adsorption processes on the suspended particles. Also, the Cd, Pb, and Ni mobility is higher compared to that of the other metals.     

In situ mineral <Superscript>15</Superscript>N dynamics and fate of added <Superscript>15</Superscript>NH<Subscript>4</Subscript><Superscript>+</Superscript> in hoop pine plantation and adjacent native forest in subtropical Australia

Background, aim, and scope  Hoop pine (Araucaria cunninghamii) is a nitrogen (N) demanding indigenous Australia softwood species with plantations in Southeast Queensland, Australia. Soil fertility has declined with increasing rotations and comparison study of N cycling between hoop pine plantations, and adjacent native forest (NF) is required to develop effective forest management for enhancing sustainable forest production and promoting environmental benefits. Field in situ mineral ¹⁵N transformations in these two forest ecosystems have not been studied. Hence, the present study was to compare the differences in soil nutrients, N transformations, ¹⁵N fluxes, and fate between the hoop pine plantation and the adjacent native forest. Materials and methods  The study sites were in Yarraman State Forest (26°52′ S, 151°51′ E), Southeastern Queensland, Australia. The in situ core incubation method was used in the field experiments. Mineral N was determined using a LACHAT Quickchem Automated Ion Analyzer. ¹⁵N were performed using an isotope ratio mass spectrometer with a Eurovector elemental analyzer. All statistical tests were carried out by the SPSS 11.0 for Windows statistical software package. Results  Soil total C and N were significantly higher in the NF than in the 53-year-old hoop pine plantation. Concentrations of NO₃ ^– were significantly higher in the NF soil than in the plantation soil. The plantation soil had significantly higher ¹⁵N and ¹³C natural abundances than the NF soil. The NF soil had significantly lower C/N ratios than the plantation soil. NO₃ ^––N was dominated in mineral N pools in both NF and plantation soils, accounting for 91.6% and 70.3% of the total mineral N pools, respectively. Rates of net nitrification and net N mineralization were, respectively, four and three times higher in the NF soil than in the plantation soil. The ¹⁵NO₃ ^––N and mineral ¹⁵N were significantly higher in the NF soil than in the plantation soil. Significant difference in ¹⁵NH₄ ⁺–N was found in the NF soil before and after the incubation. Discussion  The NF soil had significantly higher NO₃ ^––N, mineral N, total N and C but lower δ¹⁵N, δ¹³C, and C/N ratios than the plantation soil. Moreover, the rates of soil net N mineralization and nitrification were significantly higher, but ammonification rate was lower in the NF than in the plantation. The NF soil had many more dynamic N transformations than the plantation soil due to the combination of multiple species and layers and, thus, stimulation of microbial activity and alteration of C and N pool sizes in favor of the N transformations by soil microbes. The net rate of N and ¹⁵N transformation demonstrated differences in N dynamic related to the variation in tree species between the two ecosystems. Conclusions  The change of land use and trees species had significant impacts on soil nutrients and N cycling processes. The plantation had larger losses of N than the NF. The NO₃ ^––N and ¹⁵NO₃ ^––N dominated in the mineral N and ¹⁵N pools in both forest ecosystems. Recommendations and perspectives  Native forest soil had strong N dynamic compared with the plantation soil. Composition of multiple tree species with different ecological niches in the plantation could promote the soil ecosystem sustainability. The ¹⁵N isotope dilution technique in the field can be quite useful for studying in situ mineral ¹⁵N transformations and fate to further understand actual N dynamics in natural forest soils.