350 research outputs found

    Surface Effects in Superparamagnetic Magnetite Particles *

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    Abstract. We have studied the properties of unshielded and shielded (hybrid) nanosized spherical magnetite particles with diameter 10 ± 2 nm, which are superparamagnetic at room temperature, through magnetometry, X-ray powder diffraction, magnetic force microscopy imaging and Mössbauer spectroscopy. The unshielded material was prepared by co-precipitation either in air or in inert atmosphere and part of it was shielded subsequently by β-cyclodextrin (β-C42H70O35). The studies indicated that in the unshielded particles there is a surface layer with a depth of 3 nm wherein an exponential rise in the number of vacancies is observed in the octahedral sublattice ([B]-sites), so that the particle surface is highly defective and could be represented by the general formula (Fe , where x = 0-0.3 and denotes vacancies. In contrast, the hybrid particles, being protected from oxidation, are structurally close to bulk magnetite so that the surface magnetic effects could be understood as due to the chaotic orientation of the magnetic moments at the magnetic-nonmagnetic material interface. An empirical model for a spherical single domain particle was developed in attempting to describe the evolution of structural defects in the surface layer

    Functional QTL mapping and genomic prediction of canopy height in wheat measured using a robotic field phenotyping platform

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    Genetic studies increasingly rely on high-throughput phenotyping, but the resulting longitudinal data pose analytical challenges. We used canopy height data from an automated field phenotyping platform to compare several approaches to scanning for quantitative trait loci (QTLs) and performing genomic prediction in a wheat recombinant inbred line mapping population based on up to 26 sampled time points (TPs). We detected four persistent QTLs (i.e. expressed for most of the growing season), with both empirical and simulation analyses demonstrating superior statistical power of detecting such QTLs through functional mapping approaches compared with conventional individual TP analyses. In contrast, even very simple individual TP approaches (e.g. interval mapping) had superior detection power for transient QTLs (i.e. expressed during very short periods). Using spline-smoothed phenotypic data resulted in improved genomic predictive abilities (5–8% higher than individual TP prediction), while the effect of including significant QTLs in prediction models was relatively minor (<1–4% improvement). Finally, although QTL detection power and predictive ability generally increased with the number of TPs analysed, gains beyond five or 10 TPs chosen based on phenological information had little practical significance. These results will inform the development of an integrated, semi-automated analytical pipeline, which will be more broadly applicable to similar data sets in wheat and other crops

    Preparation and characterization of superhydrophobic surfaces based on hexamethyldisilazane-modified nanoporous alumina

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    Superhydrophobic nanoporous anodic aluminum oxide (alumina) surfaces were prepared using treatment with vapor-phase hexamethyldisilazane (HMDS). Nanoporous alumina substrates were first made using a two-step anodization process. Subsequently, a repeated modification procedure was employed for efficient incorporation of the terminal methyl groups of HMDS to the alumina surface. Morphology of the surfaces was characterized by scanning electron microscopy, showing hexagonally ordered circular nanopores with approximately 250 nm in diameter and 300 nm of interpore distances. Fourier transform infrared spectroscopy-attenuated total reflectance analysis showed the presence of chemically bound methyl groups on the HMDS-modified nanoporous alumina surfaces. Wetting properties of these surfaces were characterized by measurements of the water contact angle which was found to reach 153.2 ± 2°. The contact angle values on HMDS-modified nanoporous alumina surfaces were found to be significantly larger than the average water contact angle of 82.9 ± 3° on smooth thin film alumina surfaces that underwent the same HMDS modification steps. The difference between the two cases was explained by the Cassie-Baxter theory of rough surface wetting

    Genetic relationships between spring emergence, canopy phenology and biomass yield increase the accuracy of genomic prediction in Miscanthus

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    Miscanthus has potential as a bioenergy crop but the rapid development of high-yielding varieties is challenging. Previous studies have suggested that phenology and canopy height are important determinants of biomass yield. Furthermore, while genome-wide prediction was effective for a broad range of traits, the predictive ability for yield was very low. We therefore developed models clarifying the genetic associations between spring emergence, consequent canopy phenology and dry biomass yield. The timing of emergence was a moderately strong predictor of early-season elongation growth (genetic correlation >0.5), but less so for growth later in the season and for the final yield (genetic correlation <0.1). In contrast, early-season canopy height was consistently more informative than emergence for predicting biomass yield across datasets for two species in Miscanthus and two growing seasons. We used the associations uncovered through these models to develop selection indices that are expected to increase the response to selection for yield by as much as 21% and improve the performance of genome-wide prediction by an order of magnitude. This multivariate approach could have an immediate impact in operational breeding programmes, as well as enable the integration of crop growth models and genome-wide predictionpublishersversionPeer reviewe

    Decreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathy.

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    The most common cause of dilated cardiomyopathy and heart failure (HF) is ischemic heart disease; however, in a third of all patients the cause remains undefined and patients are diagnosed as having idiopathic dilated cardiomyopathy (IDC). Recent studies suggest that many patients with IDC have a family history of HF and rare genetic variants in over 35 genes have been shown to be causative of disease. We employed whole-exome sequencing to identify the causative variant in a large family with autosomal dominant transmission of dilated cardiomyopathy. Sequencing and subsequent informatics revealed a novel 10-nucleotide deletion in the BCL2-associated athanogene 3 (BAG3) gene (Ch10:del 121436332_12143641: del. 1266_1275 [NM 004281]) that segregated with all affected individuals. The deletion predicted a shift in the reading frame with the resultant deletion of 135 amino acids from the C-terminal end of the protein. Consistent with genetic variants in genes encoding other sarcomeric proteins there was a considerable amount of genetic heterogeneity in the affected family members. Interestingly, we also found that the levels of BAG3 protein were significantly reduced in the hearts from unrelated patients with end-stage HF undergoing cardiac transplantation when compared with non-failing controls. Diminished levels of BAG3 protein may be associated with both familial and non-familial forms of dilated cardiomyopathy

    The obscure events contributing to the evolution of an incipient sex chromosome in Populus: a retrospective working hypothesis

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    Genetic determination of gender is a fundamental developmental and evolutionary process in plants. Although it appears that dioecy in [i]Populus[/i] is genetically controlled, the precise gender-determining systems remain unclear. The recently released second draft assembly and annotated gene set of the [i]Populus[/i] genome provided an opportunity to revisit this topic. We hypothesized that over evolutionary time, selective pressure has reformed the genome structure and gene composition in the peritelomeric region of the chromosome XIX, which has resulted in a distinctive genome structure and cluster of genes contributing to gender determination in [i]Populus trichocarpa[/i]. Multiple lines of evidence support this working hypothesis. First, the peritelomeric region of the chromosome XIX contains significantly fewer single nucleotide polymorphisms than the rest of [i]Populus[/i] genome and has a distinct evolutionary history. Second, the peritelomeric end of chromosome XIX contains the largest cluster of the nucleotide-binding site–leucine-rich repeat (NBS–LRR) class of disease resistance genes in the entire [i]Populus[/i] genome. Third, there is a high occurrence of small microRNAs on chromosome XIX, which is coincident to the region containing the putative gender-determining locus and the major cluster of NBS–LRR genes. Further, by analyzing the metabolomic profiles of floral bud in male and female [i]Populus[/i] trees using a gas chromatography-mass spectrometry, we found that there are gender-specific accumulations of phenolic glycosides. Taken together, these findings led to the hypothesis that resistance to and regulation of a floral pathogen and gender determination coevolved, and that these events triggered the emergence of a nascent sex chromosome. Further studies of chromosome XIX will provide new insights into the genetic control of gender determination in [i]Populus[/i]

    FLNC Gene Splice Mutations Cause Dilated\ua0Cardiomyopathy

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    OBJECTIVE: To identify novel dilated cardiomyopathy (DCM) causing genes, and to elucidate the pathological mechanism leading to DCM by utilizing zebrafish as a model organism. BACKGROUND: DCM, a major cause of heart failure, is frequently familial and caused by a genetic defect. However, only 50% of DCM cases can be attributed to a known DCM gene variant, motivating the ongoing search for novel disease genes. METHODS: We performed whole exome sequencing (WES) in two multigenerational Italian families and one US family with arrhythmogenic DCM without skeletal muscle defects, in whom prior genetic testing had been unrevealing. Pathogenic variants were sought by a combination of bioinformatic filtering and cosegregation testing among affected individuals within the families. We performed function assays and generated a zebrafish morpholino knockdown model. RESULTS: A novel filamin C gene splicing variant (FLNC c.7251+1 G>A) was identified by WES in all affected family members in the two Italian families. A separate novel splicing mutation (FLNC c.5669-1delG) was identified in the US family. Western blot analysis of cardiac heart tissue from an affected individual showed decreased FLNC protein, supporting a haploinsufficiency model of pathogenesis. To further analyze this model, a morpholino knockdown of the ortholog filamin Cb in zebrafish was created which resulted in abnormal cardiac function and ultrastructure. CONCLUSIONS: Using WES, we identified two novel FLNC splicing variants as the likely cause of DCM in three families. We provided protein expression and in vivo zebrafish data supporting haploinsufficiency as the pathogenic mechanism leading to DCM
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