Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Recently, the application of array-based comparative genomic hybridization (array CGH) has improved rates of detection of chromosomal imbalances in individuals with mental retardation and dysmorphic features. Here, we describe three individuals with learning disability and a heterozygous deletion at chromosome 17q21.3, detected in each case by array CGH. FISH analysis demonstrated that the deletions occurred as de novo events in each individual and were between 500 kb and 650 kb in size. A recently described 900-kb inversion that suppresses recombination between ancestral H1 and H2 haplotypes encompasses the deletion. We show that, in each trio, the parent of origin of the deleted chromosome 17 carries at least one H2 chromosome. This region of 17q21.3 shows complex genomic architecture with well-described low-copy repeats (LCRs). The orientation of LCRs flanking the deleted segment in inversion heterozygotes is likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombination.     

Role of AGC kinases in plant growth and stress responses

AGC kinases are important regulators of cell growth, metabolism, division, and survival in mammalian systems. Mutation or deregulation of members of this family of protein kinases contribute to the pathogenesis of many human diseases, including cancer and diabetes. Although AGC kinases are conserved in the plant kingdom, little is known about their molecular functions and targets. Some of the best-studied plant AGC kinases mediate auxin signaling and are thereby involved in the regulation of growth and morphogenesis. Furthermore, certain members are regulated by lipid-derived signals via the 3-phosphoinositide-dependent kinase 1 (PDK1) and the kinase target of rapamycin (TOR), similar to its animal counterparts. In this review, we discuss recent findings on plant AGC kinases that unravel important roles in the regulation of plant growth, immunity and cell death, and connections to stress-induced mitogen-activated protein kinase signaling cascades.     

Gastropod shell utilisation pattern by the hermit crab Clibanarius symmetricus (Anomura: Diogenidae) in an Equatorial Amazon estuary

Clibanarius symmetricus is a diogenid hermit crab that is highly abundant in rocky intertidal environments, including the rock outcrops of Amazon estuaries. This study characterises the C. symmetricus shell utilisation pattern in the Marapanim River estuary, Pará, Equatorial Amazon, based on the hypothesis that occupancy patterns would differ, in relation to biometry and diversity of occupied shells, from those of other regions in the range of this species due to the distinct and unique environmental characteristics of equatorial estuaries. Monthly samplings were carried out from August 2006 to July 2007, in the upper and lower areas of the mid-littoral during low tides. A total of seven gastropod species were found as shells occupied by hermit crabs: 93.33% were Thaisella trinitatensis shells, 2.00% Nassarius vibex, 2.00% Neritina virginea, 1.33% Natica marochiensis, 0.67% Parvanachis obesa, and, occasionally, Littorina flava and Phalium granulatum shells, each with only one occurrence (0.33%). Juveniles [cephalothoracic shield length (CL) of less than 3.6 mm] occupied a higher variety of shells, while adults occupied shells with larger meristic variation. Males occupied larger shells. The length of the animal was influenced by shell measurements (total width, aperture width and weight). Clibanarius symmetricus showed occupancy patterns generally similar to those of specimens of the same species previously studied in the Brazilian subtropical region, and this occupancy is explained by shell availability, shell size and weight, and hermit size. However, this study showed lower occupied shell species diversity, and the species with highest occupancy frequency (T. trinitatensis) was not reported in any previous studies on this hermit crab. In addition, the studied population differed in occupancy patterns, with differences between males and females, and between juveniles and adults.     

The grapevine genome sequence suggests ancestral hexaploidization in major angiosperm phyla

The analysis of the first plant genomes provided unexpected evidence for genome duplication events in species that had previously been considered as true diploids on the basis of their genetics. These polyploidization events may have had important consequences in plant evolution, in particular for species radiation and adaptation and for the modulation of functional capacities. Here we report a high-quality draft of the genome sequence of grapevine (Vitis vinifera) obtained from a highly homozygous genotype. The draft sequence of the grapevine genome is the fourth one produced so far for flowering plants, the second for a woody species and the first for a fruit crop (cultivated for both fruit and beverage). Grapevine was selected because of its important place in the cultural heritage of humanity beginning during the Neolithic period. Several large expansions of gene families with roles in aromatic features are observed. The grapevine genome has not undergone recent genome duplication, thus enabling the discovery of ancestral traits and features of the genetic organization of flowering plants. This analysis reveals the contribution of three ancestral genomes to the grapevine haploid content. This ancestral arrangement is common to many dicotyledonous plants but is absent from the genome of rice, which is a monocotyledon. Furthermore, we explain the chronology of previously described whole-genome duplication events in the evolution of flowering plants.     

Effective global conservation strategies

Using data on the global distribution of mammal, bird and amphibian species, Grenyer et al. conclude that planning based on individual taxa does not provide efficient solutions for the conservation of other taxa. They also report that the performance of existing global conservation strategies-endemic bird areas, biodiversity hotspots and global 200 ecoregions-in representing those taxa is often no better (and in some cases worse) than random. I argue here that the methodology used by Grenyer et al. was not appropriate for purported globally comprehensive analyses. Focusing on analyses of rare species as an example, I demonstrate how the data actually reveal substantial cross-taxon surrogacy and good performance of existing global conservation strategies.     

Metabolism of amphibian spermatozoa in relation to their motility.

Bufo arenarum spermatozoa were able to sustain motility both under aerobic and anaerobic conditions. In aerobiosis, the oxygen consumption varies between 2.6 and 4.2 microliter O2/10(8) cells/h at 30 degree C. The synthesis of lactic acid by anaerobic spermatozoa demonstrated the existence of an active glycolytic pathway.     

Combining Economic Forecasts by Using a Maximum Entropy Econometric Approach

This paper explores the use of a maximum entropy econometric approach to combine forecasts when the small amount of information available does not allow the use of regression procedures since a dimensionality problem arises. This approach has its roots in information theory and builds on the entropy information measures and the classical maximum entropy principle, which was developed to recover information from underdetermined models. More specifically, we use the maximum entropy econometric approach for the measure of Shannon and we also propose its extension to the quadratic uncertainty measure. The experimental results over a pool of forecasts referring to Spanish inflation show some improvements when compared with equally weighted combined forecasting. Copyright © 2011 John Wiley & Sons, Ltd.