High homologous gene conservation despite extreme autopolyploid redundancy in sugarcane

P>Modern sugarcane (Saccharum spp.) is the leading sugar crop and a primary energy crop. It has the highest level of `vertical` redundancy (2n = 12x = 120) of all polyploid plants studied to date. It was produced about a century ago through hybridization between two autopolyploid species, namely S. officinarum and S. spontaneum. In order to investigate the genome dynamics in this highly polyploid context, we sequenced and compared seven hom(oe)ologous haplotypes (bacterial artificial chromosome clones). Our analysis revealed a high level of gene retention and colinearity, as well as high gene structure and sequence conservation, with an average sequence divergence of 4% for exons. Remarkably, all of the hom(oe)ologous genes were predicted as being functional (except for one gene fragment) and showed signs of evolving under purifying selection, with the exception of genes within segmental duplications. By contrast, transposable elements displayed a general absence of colinearity among hom(oe)ologous haplotypes and appeared to have undergone dynamic expansion in Saccharum, compared with sorghum, its close relative in the Andropogonea tribe. These results reinforce the general trend emerging from recent studies indicating the diverse and nuanced effect of polyploidy on genome dynamics.

Recurrent Deletion of ZNF630 at Xp11.23 Is Not Associated With Mental Retardation

ZNF630 is a member of the primate-specific Xp11 zinc finger gene cluster that consists of six closely related genes, of which ZNF41, ZNF81, and ZNF674 have been shown to be involved in mental retardation. This suggests that mutations of ZNF630 might influence cognitive function. Here, we detected 12 ZNF630 deletions in a total of 1,562 male patients with mental retardation from Brazil, USA, Australia, and Europe. The breakpoints were analyzed in 10 families, and in all cases they were located within two segmental duplications that share more than 99% sequence identity, indicating that the deletions resulted from non-allelic homologous recombination. In 2,121 healthy male controls, 10 ZNF630 deletions were identified. In total, there was a 1.6-fold higher frequency of this deletion in males with mental retardation as compared to controls, but this increase was not statistically significant (P-value = 0.174). Conversely, a 1.9-fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P-value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation. (C) 2010 Wiley-Liss, Inc.

A Rare Case of Trisomy 15pter-q21.2 Due to a De Novo Marker Chromosome

Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are derived from acrocentric chromosomes and half of them include the short arm of chromosome 15. Generally, they appear as bisatellited isodicentric marker chromosomes, most of them are symmetric. These chromosomes are normally originated de novo and are associated with mild to severe intellectual disability but not with physical abnormalities. We report on a patient with an SMC studied using classical and molecular cytogenetic procedures (G and C banding, NOR staining, painting and centromeric fluorescent in situ hybridization (FISH), BAC-FISH, and SKY). The MLPA technique and DNA polymorphic markers were used in order to identify its parental origin. The marker chromosome, monosatellited and monocentric, was found to be derived from a maternal chromosome 15 and was defined as 15pter-q21.2. This is the report of the largest de novo monosatellited 15q marker chromosome ever published presenting detailed cytogenetic and clinical data. It was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum. (C) 2010 Wiley-Liss, Inc.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be generated by a non-homologous end joining (NHEJ) mechanism. We investigated the potential mechanisms for MECP2 duplication and examined whether genomic architectural features may play a role in their origin using a custom designed 4-Mb tiling-path oligonucleotide array CGH assay. Each of the 30 patients analyzed showed a unique duplication varying in size from similar to 250 kb to similar to 2.6 Mb. Interestingly, in 77% of these non-recurrent duplications, the distal breakpoints grouped within a 215 kb genomic interval, located 47 kb telomeric to the MECP2 gene. The genomic architecture of this region contains both direct and inverted low-copy repeat (LCR) sequences; this same region undergoes polymorphic structural variation in the general population. Array CGH revealed complex rearrangements in eight patients; in six patients the duplication contained an embedded triplicated segment, and in the other two, stretches of non-duplicated sequences occurred within the duplicated region. Breakpoint junction sequencing was achieved in four duplications and identified an inversion in one patient, demonstrating further complexity. We propose that the presence of LCRs in the vicinity of the MECP2 gene may generate an unstable DNA structure that can induce DNA strand lesions, such as a collapsed fork, and facilitate a Fork Stalling and Template Switching event producing the complex rearrangements involving MECP2.

Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. (C) 2008 Wiley-Liss, Inc.

The mitochondrial view of Blastocladiella emersonii

The mitochondrial genome of the chytrid Blastocladiella emersonii was sequenced and annotated, revealing the complete set of oxidative phosphorylation genes and tRNAs/rRNAs necessary for the translation process. Phylogenetic reconstructions reinforce the proposal of the new phylum Blastocladiomycota. Evidences of gene duplication due to inserted elements suggest shared susceptibility to gene invasion/exchange between chytrids and zygomycetes. The gene content of B. emersonii is very similar to Allomyces macrogynus but the content of intronic and changeable elements is much lower suggesting a stronger resistance to this kind of exchange. in addition, a total of 401 potential nuclear transcripts encoding mitochondrial proteins were obtained after B. emersonii EST database scanning using Saccharomyces cerevisiae, Homo sapiens and Arabidopsis thaliana data as probes and TargetP tool to find N-terminal mitochondrial signal in translated sequences. (c) 2008 Elsevier B.V. All rights reserved.

Cytological Characterization of YpsB, a Novel Component of the Bacillus subtilis Divisome

Cell division in bacteria is carried out by an elaborate molecular machine composed of more than a dozen proteins and known as the divisome. Here we describe the characterization of a new divisome protein in Bacillus subtilis called YpsB. Sequence comparisons and phylogentic analysis demonstrated that YpsB is a paralog of the division site selection protein DivIVA. YpsB is present in several gram-positive bacteria and likely originated from the duplication of a DivIVA-like gene in the last common ancestor of bacteria of the orders Bacillales and Lactobacillales. We used green fluorescent protein microscopy to determine that YpsB localizes to the divisome. Similarly to that for DivIVA, the recruitment of YpsB to the divisome requires late division proteins and occurs significantly after Z-ring formation. In contrast to DivIVA, however, YpsB is not retained at the newly formed cell poles after septation. Deletion analysis suggests that the N terminus of YpsB is required to target the protein to the divisome. The high similarity between the N termini of YpsB and DivIVA suggests that the same region is involved in the targeting of DivIVA. YpsB is not essential for septum formation and does not appear to play a role in septum positioning. However, a ypsB deletion has a synthetic effect when combined with a mutation in the cell division gene ftsA. Thus, we conclude that YpsB is a novel B. subtilis cell division protein whose function has diverged from that of its paralog DivIVA.

Preferential location of lidocaine and etidocaine in lecithin bilayers as determined by EPR, fluorescence and H-2 NMR

We have examined the effect of the uncharged species of lidocaine (LDC) and etidocaine (EDC) on the acyl chain moiety of egg phosphatidylcholine liposomes. Changes in membrane organization caused by both anesthetics were detected through the use of EPR spin labels (5, 7 and 12 doxyl stearic acid methyl ester) or fluorescence probes (4, 6, 10, 16 pyrene-fatty acids). The disturbance caused by the LA was greater when the probes were inserted in more external positions of the acyl chain and decreased towards the hydrophobic core of the membrane. The results indicate a preferential insertion of LDC at the polar interface of the bilayer and in the first half of the acyl chain, for EDC. Additionally, 2 H NMR spectra of multilamellar liposomes composed by acyl chain-perdeutero DMPC and EPC (1:4 mol%) allowed the determination of the segmental order (S-mol) and dynamics (T-1) of the acyl chain region. In accordance to the fluorescence and EPR results, changes in molecular orientation and dynamics are more prominent if the LA preferential location is more superficial, as for LDC while EDC seems to organize the acyl chain region between carbons 2-8, which is indicative of its positioning. We propose that the preferential location of LDC and EDC inside the bilayers creates a ""transient site"", which is related to the anesthetic potency since it could modulate the access of these molecules to their binding site(s) in the voltage-gated sodium channel. (C) 2007 Elsevier B.V. All rights reserved.

On Occurrence Of Plagiarism In Published Computer Science Thesis Reports At Swedish Universities

In recent years, it has been observed that software clones and plagiarism are becoming an increased threat for one?s creativity. Clones are the results of copying and using other?s work. According to the Merriam – Webster dictionary, “A clone is one that appears to be a copy of an original form”. It is synonym to duplicate. Clones lead to redundancy of codes, but not all redundant code is a clone.On basis of this background knowledge ,in order to safeguard one?s idea and to avoid intentional code duplication for pretending other?s work as if their owns, software clone detection should be emphasized more. The objective of this paper is to review the methods for clone detection and to apply those methods for finding the extent of plagiarism occurrence among the Swedish Universities in Master level computer science department and to analyze the results.The rest part of the paper, discuss about software plagiarism detection which employs data analysis technique and then statistical analysis of the results.Plagiarism is an act of stealing and passing off the idea?s and words of another person?s as one?s own. Using data analysis technique, samples(Master level computer Science thesis report) were taken from various Swedish universities and processed in Ephorus anti plagiarism software detection. Ephorus gives the percentage of plagiarism for each thesis document, from this results statistical analysis were carried out using Minitab Software.The results gives a very low percentage of Plagiarism extent among the Swedish universities, which concludes that Plagiarism is not a threat to Sweden?s standard of education in computer science.This paper is based on data analysis, intelligence techniques, EPHORUS software plagiarism detection tool and MINITAB statistical software analysis.

The Cultural Construction of the Maine Sporting Camps

Maine sporting camps were a cultural and social phenomenon of the urban upper and middle class. They originated in Maine in the late 1870s and early 1880s and reached their zenith around the turn of the century with over 160 in operation in eight of the sixteen counties in Maine in 1906. The period from 1880 until World War I can be considered the 'golden era' of the Maine sporting camps. After the war, with technological advancements such as the outboard motor, the proliferation of the automobile, and the introduction of a road system into rural Maine, the camps underwent significant change that warrants an entirely different cultural analysis. A number of elements came together to produce a cultural atmosphere permissive of sporting camp creation in Maine. These include changing national views upon nature, health, sport and the leisure time in which to pursue them. In the late nineteenth century, with the rise of large industrially based cities, overcrowding fostered crime and disease. An upper and middle class emerged that desired escape and separation from the lower classes. Maine was chosen for such an escape because it offered, through sporting camps, a chance to "get back to nature," by pursuing the healthful activities of hunting and fishing. At the same time these urban sportsmen and sportswomen distinguished themselves on the social Hierarchical scale from the rural inhabitants. What happened in rural Maine during the period between 1880 and World War I was the introduction of a new cultural order on the landscape. Coming primarily from urban centers on the East Coast of the United States were men, women and children who looked to Maine for vacations. These vacations were designed to put them in touch with nature by pursuing healthful activities, especially those of fishing and hunting. Coming from an environment that emphasized social standing, they ensured that these trips would perpetuate this hierarchy. They experienced nature through the Maine sporting camps, which provided them with the services and skills necessary to experience it while enjoying a degree of luxury that they were accustomed to in the urban world. The Maine sporting camps were a cultural manifestation of the urban upper and middle class, the groups that the camps were established to serve. Despite this the camps did not represent a structural duplication of urban society. Instead, the camps represented a cultural construction that was produced by interaction between members of two different conceptual and physical worlds, the blending of which, on a social level, was determined by urban mentality and rural knowledge. In the production of a cultural world meaningful to the clients, the rural world of the Maine woods was altered to meet their needs. It was not a one-sided process, however, as the clients were forced to acknowledge the importance of the rural inhabitants on the basis of their value to the clients.

Optimal Rehabilitation Strategy In Water Distribution Systems Considering Reduction In Greenhouse Gas Emissions

Most of water distribution systems (WDS) need rehabilitation due to aging infrastructure leading to decreasing capacity, increasing leakage and consequently low performance of the WDS. However an appropriate strategy including location and time of pipeline rehabilitation in a WDS with respect to a limited budget is the main challenge which has been addressed frequently by researchers and practitioners. On the other hand, selection of appropriate rehabilitation technique and material types is another main issue which has yet to address properly. The latter can affect the environmental impacts of a rehabilitation strategy meeting the challenges of global warming mitigation and consequent climate change. This paper presents a multi-objective optimization model for rehabilitation strategy in WDS addressing the abovementioned criteria mainly focused on greenhouse gas (GHG) emissions either directly from fossil fuel and electricity or indirectly from embodied energy of materials. Thus, the objective functions are to minimise: (1) the total cost of rehabilitation including capital and operational costs; (2) the leakage amount; (3) GHG emissions. The Pareto optimal front containing optimal solutions is determined using Non-dominated Sorting Genetic Algorithm NSGA-II. Decision variables in this optimisation problem are classified into a number of groups as: (1) percentage proportion of each rehabilitation technique each year; (2) material types of new pipeline for rehabilitation each year. Rehabilitation techniques used here includes replacement, rehabilitation and lining, cleaning, pipe duplication. The developed model is demonstrated through its application to a Mahalat WDS located in central part of Iran. The rehabilitation strategy is analysed for a 40 year planning horizon. A number of conventional techniques for selecting pipes for rehabilitation are analysed in this study. The results show that the optimal rehabilitation strategy considering GHG emissions is able to successfully save the total expenses, efficiently decrease the leakage amount from the WDS whilst meeting environmental criteria.

Harmonization Of Vocabularies For Water Data

Observational data encodes values of properties associated with a feature of interest, estimated by a specified procedure. For water the properties are physical parameters like level, volume, flow and pressure, and concentrations and counts of chemicals, substances and organisms. Water property vocabularies have been assembled at project, agency and jurisdictional level. Organizations such as EPA, USGS, CEH, GA and BoM maintain vocabularies for internal use, and may make them available externally as text files. BODC and MMI have harvested many water vocabularies alongside others of interest in their domain, formalized the content using SKOS, and published them through web interfaces. Scope is highly variable both within and between vocabularies. Individual items may conflate multiple concerns (e.g. property, instrument, statistical procedure, units). There is significant duplication between vocabularies. Semantic web technologies provide the opportunity both to publish vocabularies more effectively, and achieve harmonization to support greater interoperability between datasets. - Models for vocabulary items (property, substance/taxon, process, unit-of-measure, etc) may be formalized OWL ontologies, supporting semantic relations between items in related vocabularies; - By specializing the ontology elements from SKOS concepts and properties, diverse vocabularies may be published through a common interface; - Properties from standard vocabularies (e.g. OWL, SKOS, PROV-O and VAEM) support mappings between vocabularies having a similar scope - Existing items from various sources may be assembled into new virtual vocabularies However, there are a number of challenges: - use of standard properties such as sameAs/exactMatch/equivalentClass require reasoning support; - items have been conceptualised as both classes and individuals, complicating the mapping mechanics; - re-use of items across vocabularies may conflict with expectations concerning URI patterns; - versioning complicates cross-references and re-use. This presentation will discuss ways to harness semantic web technologies to publish harmonized vocabularies, and will summarise how many of the challenges may be addressed.

Consolidating Program Accreditation Data for Regional Review

Regional accreditors often desire the same metrics and data collected by professional program reviews, but may use different terminologies to describe this information; as a result, some schools must manually translate or even recollect data already stored. This report profiles strategies to proactively consolidate the language and policies of accreditation to avoid duplication of labor and to efficiently route program accreditation data that will be repurposed in regional review. It also suggests ways to select new technologies that can streamline data collection, storage, and presentation.

Medidor de massa magra para seres humanos

Seja por motivos de saúde, estéticos ou de desempenho físico, cada vez mais há interesse em conhecer o próprio percentual de gordura corporal (%GC). Métodos cada vez menos invasivos e menos intrusivos vem sendo pesquisados para obter tal medida com o mínimo de desconforto para o paciente. Infelizmente, equipamentos de medição do %GC que apresentem operação simples, baixo custo e que possibilitem que o próprio paciente realize a medição não são encontrados no mercado nacional. O objetivo maior deste trabalho consiste, por isso, em propor um medidor com estas características. Para isso, verifica-se a possibilidade de utilizar um método com ultra-som de baixa freqüência para obter as espessuras de tecido adiposo subcutâneo e a partir disto, o %GC. Devido à elevada sensibilidade ao posicionamento do corpo de prova verificada, o que ocasiona total falta de repetibilidade das medidas, o uso de tal método é descartado. Como alternativa, propõe-se o uso do método de bioimpedância para o medidor. Os detalhes de projeto de tal equipamento são discutidos e um protótipo de suas partes críticas é implementado para mostrar sua viabilidade. A análise do protótipo construído demonstra que o equipamento devidamente acabado, quando operado em modo de bioimpedância total, apresentará precisão, exatidão, facilidade de operação e custo adequados ao uso proposto. Na operação em modo de bioimpedância segmental, todavia, a exatidão das medidas obtidas deixa a desejar, devido à provável inadequação das equações de predição usadas.

Designing single event upset mitigation techniques for large SRAM-Based FPGA components

This thesis presents the study and development of fault-tolerant techniques for programmable architectures, the well-known Field Programmable Gate Arrays (FPGAs), customizable by SRAM. FPGAs are becoming more valuable for space applications because of the high density, high performance, reduced development cost and re-programmability. In particular, SRAM-based FPGAs are very valuable for remote missions because of the possibility of being reprogrammed by the user as many times as necessary in a very short period. SRAM-based FPGA and micro-controllers represent a wide range of components in space applications, and as a result will be the focus of this work, more specifically the Virtex® family from Xilinx and the architecture of the 8051 micro-controller from Intel. The Triple Modular Redundancy (TMR) with voters is a common high-level technique to protect ASICs against single event upset (SEU) and it can also be applied to FPGAs. The TMR technique was first tested in the Virtex® FPGA architecture by using a small design based on counters. Faults were injected in all sensitive parts of the FPGA and a detailed analysis of the effect of a fault in a TMR design synthesized in the Virtex® platform was performed. Results from fault injection and from a radiation ground test facility showed the efficiency of the TMR for the related case study circuit. Although TMR has showed a high reliability, this technique presents some limitations, such as area overhead, three times more input and output pins and, consequently, a significant increase in power dissipation. Aiming to reduce TMR costs and improve reliability, an innovative high-level technique for designing fault-tolerant systems in SRAM-based FPGAs was developed, without modification in the FPGA architecture. This technique combines time and hardware redundancy to reduce overhead and to ensure reliability. It is based on duplication with comparison and concurrent error detection. The new technique proposed in this work was specifically developed for FPGAs to cope with transient faults in the user combinational and sequential logic, while also reducing pin count, area and power dissipation. The methodology was validated by fault injection experiments in an emulation board. The thesis presents comparison results in fault coverage, area and performance between the discussed techniques.