Effects of water deficit stress on leaf and berry ABA and berry ripening in Chardonnay grapevines (Vitis vinifera)

Chardonnay vines planted in root zone restricting beds were subjected to water deficit stress by withholding irrigation for a period starting at 15 (early stress; ES) or 25 d (late stress; LS) after veraison and lasting until harvest. Control vines were provided with normal irrigation. Both ES and LS treatments significantly decreased leaf water potential and caused leaf wilting 2 d after the start of each treatment. ABA levels in fruit zone leaves increased significantly 4 and 5 d after the onset of LS and ES treatments, respectively. After 2 d of ES treatment, the berry ABA level greatly increased, while LS and control treatments resulted in a gradual increase in berry ABA. In ES-treated vines, clusters were harvested 10 d after the onset of treatment, 10 d earlier than in LS and control vines, due to the severe berry shrinking and leaf fall. Levels of juice TSS, fructose, glucose, and malate were generally lower than those of LS and control vines. Both ES and LS treatments resulted in significantly higher amino acid levels. The level of proline, however, the amino acid with highest amounts in Chardonnay grape berries, was lowest in ES-treated vines. This study reveals that the effect of water deficit stress on berry ripening of Chardonnay is different depending on the stage of berry ripening, which might be caused by different ABA levels in berries.

Comparative Gene Expression Analysis in the Skeletal Muscles of Dysferlin-deficient SJL/J and A/J Mice

Quantitative real-time polymerase chain reaction (qRT-PCR) analysis was conducted to determine whether or not there are interstrain or site-dependent differences in the gene expression profiles of skeletal muscles in SJL/J and A/J mice as dysferlinopathy models. Upon analysis by qRT-PCR, SJL/J mice showed a trend of increased gene expression level of uncoupling protein 2 in the rectus femoris and longissimus lumborum at 30 weeks of age when dystrophic lesions became histopathologically pronounced. Heme oxygenase 1 and S100 calcium binding protein A4 were upregulated in the rectus femoris, longissimus lumborum and abdominal muscles, in which dystrophic lesions occur more commonly in SJL mice. The gene expression levels of heat shock protein 70 in most muscles of A/J mice were lower than those of BALB/c mice as control. SJL/J mice exhibited a marked lowering of decay-accelerating factor 1/CD55 gene expression level in all studied muscles except for the heart at all ages compared with that of BALB/c mice. This study showed that there were some interstrain differences in the gene expres sion profiles of skeletal muscles between SJL/J and A/J mice. Further investigation is required to reveal whether these alterations of the expression levels are the cause of dystrophic changes or occur subsequent to muscle damage

A Mutation in the Gene Encoding Mitochondrial Mg2+ Channel MRS2 Results in Demyelination in the Rat

The rat demyelination (dmy) mutation serves as a unique model system to investigate the maintenance of myelin, because it provokes severe myelin breakdown in the central nervous system (CNS) after normal postnatal completion of myelination. Here, we report the molecular characterization of this mutation and discuss the possible pathomechanisms underlying demyelination. By positional cloning, we found that a G-to-A transition, 177 bp downstream of exon 3 of the Mrs2 (MRS2 magnesium homeostasis factor (Saccharomyces cerevisiae)) gene, generated a novel splice acceptor site which resulted in functional inactivation of the mutant allele. Transgenic rescue with wild-type Mrs2-cDNA validated our findings. Mrs2 encodes an essential component of the major Mg2+ influx system in mitochondria of yeast as well as human cells. We showed that the dmy/dmy rats have major mitochondrial deficits with a markedly elevated lactic acid concentration in the cerebrospinal fluid, a 60% reduction in ATP, and increased numbers of mitochondria in the swollen cytoplasm of oligodendrocytes. MRS2-GFP recombinant BAC transgenic rats showed that MRS2 was dominantly expressed in neurons rather than oligodendrocytes and was ultrastructurally observed in the inner membrane of mitochondria. Our observations led to the conclusion that dmy/dmy rats suffer from a mitochondrial disease and that the maintenance of myelin has a different mechanism from its initial production. They also established that Mg2+ homeostasis in CNS mitochondria is essential for the maintenance of myelin

Autism as a disorder of neural information processing: directions for research and targets for therapy

The broad variation in phenotypes and severities within autism spectrum disorders suggests the involvement of multiple predisposing factors, interacting in complex ways with normal developmental courses and gradients. Identification of these factors, and the common developmental path into which theyfeed, is hampered bythe large degrees of convergence from causal factors to altered brain development, and divergence from abnormal brain development into altered cognition and behaviour. Genetic, neurochemical, neuroimaging and behavioural findings on autism, as well as studies of normal development and of genetic syndromes that share symptoms with autism, offer hypotheses as to the nature of causal factors and their possible effects on the structure and dynamics of neural systems. Such alterations in neural properties may in turn perturb activity-dependent development, giving rise to a complex behavioural syndrome many steps removed from the root causes. Animal models based on genetic, neurochemical, neurophysiological, and behavioural manipulations offer the possibility of exploring these developmental processes in detail, as do human studies addressing endophenotypes beyond the diagnosis itself

Aberrant Otx2 Expression Enhances Migration and Induces Ectopic Proliferation of Hindbrain Neuronal Progenitor Cells

Dysregulation of Otx2 is a hallmark of the pediatric brain tumor medulloblastoma, yet its functional significance in the establishment of these tumors is unknown. Here we have sought to determine the functional consequences of Otx2 overexpression in the mouse hindbrain to characterize its potential role in medulloblastoma tumorigenesis and identify the cell types responsive to this lineage-specific oncogene. Expression of Otx2 broadly in the mouse hindbrain resulted in the accumulation of proliferative clusters of cells in the cerebellar white matter and dorsal brainstem of postnatal mice. We found that brainstem ectopia were derived from neuronal progenitors of the rhombic lip and that cerebellar ectopia were derived from granule neuron precursors (GNPs) that had migrated inwards from the external granule layer (EGL). These hyperplasias exhibited various characteristics of medulloblastoma precursor cells identified in animal models of Shh or Wnt group tumors, including aberrant localization and altered spatiotemporal control of proliferation. However, ectopia induced by Otx2 differentiated and dispersed as the animals reached adulthood, indicating that factors restricting proliferative lifespan were a limiting factor to full transformation of these cells. These studies implicate a role for Otx2 in altering the dynamics of neuronal progenitor cell proliferation

Genetics of human hydrocephalus

Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human hydrocephalus. This review summarizes the recent findings on this issue among human and animal models, especially with reference to the molecular genetics, pathological, physiological and cellular studies, and identifies future research directions

Block Shear Capacity of Bolted Connections in Cold-Reduced Steel Sheets

This paper examines the mechanisms for block shear failures of bolted connections in steel plates postulated in the design equations specified in the North American, European and Australian steel structures codes. It explains that there is only one feasible mechanism for the limit state of conventional block shear failure, that which involves tensile rupture and shear yielding, irrespective of the steel material ductility. It describes the fundamental shortcomings of various code equations for determining the block shear capacity of a bolted connection. Based on the tensile rupture and shear yielding mechanism, an in-plane shear lag factor, and the active shear resistance planes identified in the present work, this paper proposes a rational equation that is demonstrated to provide more accurate results compared to all the code equations in predicting the block shear capacities of bolted connections in G450 steel sheets subjected to concentric loading. The resistance factor of 0.8 for the proposed equation is computed with respect to the LRFD approach given in the North American specification for the design of cold-formed steel structures