939 resultados para quantitative trait locus mapping


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In this paper we proposed a composite depth of penetration (DOP) approach to excluding bottom reflectance in mapping water quality parameters from Landsat thematic mapper (TM) data in the shallow coastal zone of Moreton Bay, Queensland, Australia. Three DOPs were calculated from TM1, TM2 and TM3, in conjunction with bathymetric data, at an accuracy ranging from +/-5% to +/-23%. These depths were used to segment the image into four DOP zones. Sixteen in situ water samples were collected concurrently with the recording of the satellite image. These samples were used to establish regression models for total suspended sediment (TSS) concentration and Secchi depth with respect to a particular DOP zone. Containing identical bands and their transformations for both parameters, the models are linear for TSS concentration, logarithmic for Secchi depth. Based on these models, TSS concentration and Secchi depth were mapped from the satellite image in respective DOP zones. Their mapped patterns are consistent with the in situ observed ones. Spatially, overestimation and underestimation of the parameters are restricted to localised areas but related to the absolute value of the parameters. The mapping was accomplished more accurately using multiple DOP zones than using a single zone in shallower areas. The composite DOP approach enables the mapping to be extended to areas as shallow as <3 m. (C) 2004 Elsevier Inc. All rights reserved.

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The I-3 gene from the wild tomato species Lycopersicon pennellii confers resistance to race 3 of the devastating vascular wilt pathogen Fusarium oxysporum f. sp. lycopersici. As an initial step in a positional cloning strategy for the isolation of I-3, we converted restriction fragment length polymorphism and conserved orthologue set markers, known genes and a resistance gene analogue (RGA) mapping to the I-3 region into PCR-based sequence characterised amplified region (SCAR) and cleaved amplified polymorphic sequence (CAPS) markers. Additional PCR-based markers in the I-3 region were generated using the randomly amplified DNA fingerprinting (RAF) technique. SCAR, CAPS and RAF markers were used for high-resolution mapping around the I-3 locus. The I-3 gene was localised to a 0.3-cM region containing a RAF marker, eO6, and an RGA, RGA332. RGA332 was cloned and found to correspond to a putative pseudogene with at least two loss-of-function mutations. The predicted pseudogene belongs to the Toll interleukin-1 receptor-nucleotide-binding site-leucine-rich-repeat sub-class of plant disease resistance genes. Despite the presence of two RGA332 homologues in L. esculentum, DNA gel blot and PCR analysis suggests that no other homologues are present in lines carrying I-3 that could be alternative candidates for the gene.

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Sustainable management of coastal and coral reef environments requires regular collection of accurate information on recognized ecosystem health indicators. Satellite image data and derived maps of water column and substrate biophysical properties provide an opportunity to develop baseline mapping and monitoring programs for coastal and coral reef ecosystem health indicators. A significant challenge for satellite image data in coastal and coral reef water bodies is the mixture of both clear and turbid waters. A new approach is presented in this paper to enable production of water quality and substrate cover type maps, linked to a field based coastal ecosystem health indicator monitoring program, for use in turbid to clear coastal and coral reef waters. An optimized optical domain method was applied to map selected water quality (Secchi depth, Kd PAR, tripton, CDOM) and substrate cover type (seagrass, algae, sand) parameters. The approach is demonstrated using commercially available Landsat 7 Enhanced Thematic Mapper image data over a coastal embayment exhibiting the range of substrate cover types and water quality conditions commonly found in sub-tropical and tropical coastal environments. Spatially extensive and quantitative maps of selected water quality and substrate cover parameters were produced for the study site. These map products were refined by interactions with management agencies to suit the information requirements of their monitoring and management programs. (c) 2004 Elsevier Ltd. All rights reserved.

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Endometriosis is a common gynecological disease that affects up to 10% of women in their reproductive years. It causes pelvic pain, severe dysmenorrhea, and subfertility. The disease is defined as the presence of tissue resembling endometrium in sites outside the uterus. Its cause remains uncertain despite 150 years of hypothesis-driven research, and thus the therapeutic options are limited. Disease predisposition is inherited as a complex genetic trait, which provides an alternative route to understanding the disease. We seek to identify susceptibility loci, using a positional-cloning approach that starts with linkage analysis to identify genomic regions likely to harbor these genes. We conducted a linkage study of 1,176 families ( 931 from an Australian group and 245 from a U. K. group), each with at least two members-mainly affected sister pairs-with surgically diagnosed disease. We have identified a region of significant linkage on chromosome 10q26 ( maximum LOD score [MLS] of 3.09; genomewide P = .047) and another region of suggestive linkage on chromosome 20p13 MLS p 2.09). Minor peaks with MLS > 1.0) were found on chromosomes 2, 6, 7, 8, 12, 14, 15, and 17. This is the first report of linkage to a major locus for endometriosis. The findings will facilitate discovery of novel positional genetic variants that influence the risk of developing this debilitating disease. Greater understanding of the aberrant cellular and molecular mechanisms involved in the etiology and pathophysiology of endometriosis should lead to better diagnostic methods and targeted treatments.

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Blends of starch and a biodegradable polyester, produced by an extrusion process, which included a cross-linker/compatibilizer (maleic anhydride) and an initiator (dicumyl peroxide), were studied by infrared (IR) microspectroscopy using an attenuated total reflectance (ATR) objective. Extruded material, which had a diameter of about 3 mm, was sectioned and embedded in epoxy resin prior to IR analysis. Spectra were collected in a grid pattern across the sectioned face of the sample. Measurement of various band parameters from the spectra allowed IR maps to be constructed containing semi-quantitative information about the distribution of blend components. These maps showed the quality of the blend on a microscopic scale and showed how it varied with different concentrations of compatibilizer and initiator. (c) 2005 Elsevier Ltd. All rights reserved.

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New tools derived from advances in molecular biology have not been widely adopted in plant breeding because of the inability to connect information at gene level to the phenotype in a manner that is useful for selection. We explore whether a crop growth and development modelling framework can link phenotype complexity to underlying genetic systems in a way that strengthens molecular breeding strategies. We use gene-to-phenotype simulation studies on sorghum to consider the value to marker-assisted selection of intrinsically stable QTLs that might be generated by physiological dissection of complex traits. The consequences on grain yield of genetic variation in four key adaptive traits – phenology, osmotic adjustment, transpiration efficiency, and staygreen – were simulated for a diverse set of environments by placing the known extent of genetic variation in the context of the physiological determinants framework of a crop growth and development model. It was assumed that the three to five genes associated with each trait, had two alleles per locus acting in an additive manner. The effects on average simulated yield, generated by differing combinations of positive alleles for the traits incorporated, varied with environment type. The full matrix of simulated phenotypes, which consisted of 547 location-season combinations and 4235 genotypic expression states, was analysed for genetic and environmental effects. The analysis was conducted in stages with gradually increased understanding of gene-to-phenotype relationships, which would arise from physiological dissection and modelling. It was found that environmental characterisation and physiological knowledge helped to explain and unravel gene and environment context dependencies. We simulated a marker-assisted selection (MAS) breeding strategy based on the analyses of gene effects. When marker scores were allocated based on the contribution of gene effects to yield in a single environment, there was a wide divergence in rate of yield gain over all environments with breeding cycle depending on the environment chosen for the QTL analysis. It was suggested that knowledge resulting from trait physiology and modelling would overcome this dependency by identifying stable QTLs. The improved predictive power would increase the utility of the QTLs in MAS. Developing and implementing this gene-to-phenotype capability in crop improvement requires enhanced attention to phenotyping, ecophysiological modelling, and validation studies to test the stability of candidate QTLs.

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Quantitative databases are limited to information identified as important by their creators, while databases containing natural language are limited by our ability to analyze large unstructured bodies of text. Leximancer is a tool that uses semantic mapping to develop concept maps from natural language. We have applied Leximancer to educational based pathology case notes to demonstrate how real patient records or databases of case studies could be analyzed to identify unique relationships. We then discuss how such analysis could be used to conduct quantitative analysis from databases such as the Coronary Heart Disease Database.

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An interactive hierarchical Generative Topographic Mapping (HGTM) ¸iteHGTM has been developed to visualise complex data sets. In this paper, we build a more general visualisation system by extending the HGTM visualisation system in 3 directions: bf (1) We generalize HGTM to noise models from the exponential family of distributions. The basic building block is the Latent Trait Model (LTM) developed in ¸iteKabanpami. bf (2) We give the user a choice of initializing the child plots of the current plot in either em interactive, or em automatic mode. In the interactive mode the user interactively selects ``regions of interest'' as in ¸iteHGTM, whereas in the automatic mode an unsupervised minimum message length (MML)-driven construction of a mixture of LTMs is employed. bf (3) We derive general formulas for magnification factors in latent trait models. Magnification factors are a useful tool to improve our understanding of the visualisation plots, since they can highlight the boundaries between data clusters. The unsupervised construction is particularly useful when high-level plots are covered with dense clusters of highly overlapping data projections, making it difficult to use the interactive mode. Such a situation often arises when visualizing large data sets. We illustrate our approach on a toy example and apply our system to three more complex real data sets.

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In eight cases of progressive supranuclear palsy (PSP), neurofibrillary tangles (NFT) were numerous in the substantia nigra (SN), red nucleus (RN), locus caeruleus (LC), pontine nuclei (PN), and inferior olivary nucleus (ION) and abnormally enlarged neurons (EN) in the ION, LC and PN. Loss of Purkinje cells was evident in the cerebellum. Tufted astrocytes (TA) were abundant in the striatum, SN and RN and glial inclusions ('coiled bodies') (GI) in the midbrain (SN, RN) and pons (LC). Neuritic plaques were frequent in one case. NFT, GI, and TA densities were uncorrelated in most areas. NFT and EN densities were positively correlated in the midbrain and surviving neurons and disease duration in several areas. These results suggest: 1) predominantly subcortical pathology in PSP with widespread NFT while TA and GI have a more localized distribution, 2) little correlation between neuronal and glial pathologies, and 3) shorter duration cases may be more likely to develop cortical pathology. © 2007 Springer-Verlag.

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Humans display structural and functional asymmetries in brain organization, strikingly with respect to language and handedness. The molecular basis of these asymmetries is unknown. We report a genome-wide association study meta-analysis for a quantitative measure of relative hand skill in individuals with dyslexia [reading disability (RD)] (n = 728). The most strongly associated variant, rs7182874 (P = 8.68×10-9), is located in PCSK6, further supporting an association we previously reported. We also confirmed the specificity of this association in individuals with RD; the same locus was not associated with relative hand skill in a general population cohort (n = 2,666). As PCSK6 is known to regulate NODAL in the development of left/right (LR) asymmetry in mice, we developed a novel approach to GWAS pathway analysis, using gene-set enrichment to test for an over-representation of highly associated variants within the orthologs of genes whose disruption in mice yields LR asymmetry phenotypes. Four out of 15 LR asymmetry phenotypes showed an over-representation (FDR≤5%). We replicated three of these phenotypes; situs inversus, heterotaxia, and double outlet right ventricle, in the general population cohort (FDR≤5%). Our findings lead us to propose that handedness is a polygenic trait controlled in part by the molecular mechanisms that establish LR body asymmetry early in development. © 2013 Brandler et al.

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We have developed a new technique for extracting histological parameters from multi-spectral images of the ocular fundus. The new method uses a Monte Carlo simulation of the reflectance of the fundus to model how the spectral reflectance of the tissue varies with differing tissue histology. The model is parameterised by the concentrations of the five main absorbers found in the fundus: retinal haemoglobins, choroidal haemoglobins, choroidal melanin, RPE melanin and macular pigment. These parameters are shown to give rise to distinct variations in the tissue colouration. We use the results of the Monte Carlo simulations to construct an inverse model which maps tissue colouration onto the model parameters. This allows the concentration and distribution of the five main absorbers to be determined from suitable multi-spectral images. We propose the use of "image quotients" to allow this information to be extracted from uncalibrated image data. The filters used to acquire the images are selected to ensure a one-to-one mapping between model parameters and image quotients. To recover five model parameters uniquely, images must be acquired in six distinct spectral bands. Theoretical investigations suggest that retinal haemoglobins and macular pigment can be recovered with RMS errors of less than 10%. We present parametric maps showing the variation of these parameters across the posterior pole of the fundus. The results are in agreement with known tissue histology for normal healthy subjects. We also present an early result which suggests that, with further development, the technique could be used to successfully detect retinal haemorrhages.

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Recently, we have developed the hierarchical Generative Topographic Mapping (HGTM), an interactive method for visualization of large high-dimensional real-valued data sets. In this paper, we propose a more general visualization system by extending HGTM in three ways, which allows the user to visualize a wider range of data sets and better support the model development process. 1) We integrate HGTM with noise models from the exponential family of distributions. The basic building block is the Latent Trait Model (LTM). This enables us to visualize data of inherently discrete nature, e.g., collections of documents, in a hierarchical manner. 2) We give the user a choice of initializing the child plots of the current plot in either interactive, or automatic mode. In the interactive mode, the user selects "regions of interest," whereas in the automatic mode, an unsupervised minimum message length (MML)-inspired construction of a mixture of LTMs is employed. The unsupervised construction is particularly useful when high-level plots are covered with dense clusters of highly overlapping data projections, making it difficult to use the interactive mode. Such a situation often arises when visualizing large data sets. 3) We derive general formulas for magnification factors in latent trait models. Magnification factors are a useful tool to improve our understanding of the visualization plots, since they can highlight the boundaries between data clusters. We illustrate our approach on a toy example and evaluate it on three more complex real data sets. © 2005 IEEE.

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We recently reported the association of the PCSK6 gene with handedness through a quantitative genome-wide association study (GWAS; P < 0.5 × 10(-8)) for a relative hand skill measure in individuals with dyslexia. PCSK6 activates Nodal, a morphogen involved in regulating left-right body axis determination. Therefore, the GWAS data suggest that the biology underlying the patterning of structural asymmetries may also contribute to behavioural laterality, e.g. handedness. The association is further supported by an independent study reporting a variable number tandem repeat (VNTR) within the same PCSK6 locus to be associated with degree of handedness in a general population cohort. Here, we have conducted a functional analysis of the PCSK6 locus combining further genetic analysis, in silico predictions and molecular assays. We have shown that the previous GWAS signal was not tagging a VNTR effect, suggesting that the two markers have independent effects. We demonstrated experimentally that one of the top GWAS-associated markers, rs11855145, directly alters the binding site for a nuclear factor. Furthermore, we have shown that the predicted regulatory region adjacent to rs11855415 acts as a bidirectional promoter controlling the expression of novel RNA transcripts. These include both an antisense long non-coding RNA (lncRNA) and a short PCSK6 isoform predicted to be coding. This is the first molecular characterization of a handedness-associated locus that supports the role of common variants in non-coding sequences in influencing complex phenotypes through gene expression regulation.

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The present article discusses the directives of the policies of the initial teachers’ formation introduced in Brazil in the 1990’s. These directives have brought new directions and demands, both to the formation institutions and to teachers’ formation. This work analyzes the enlargement and the variation of the formation locus, a topic criticized by the teaching educators for enabling different and flexible models which have taken to a more technical and instrumental formation to the detriment of a theoretical and practical solid formation. In a general way, the study reveals that the CEFET’s use as a space of teachers’ formation has given priority to the quantitative aspects, the optimization of the resources and the instrumentation of the educators’ formation, even though under the speech of the quality of the educational process. Differently, the operationalization of this policy at CEFET-RN has favored a formative model, which has joined research, extension and teaching, guaranteeing the specificity of a solid formation, as well as the articulation between theory and practice and the sense of investigation, necessary characteristics to the formation of a devoted educator with the quality of public education.