Genetic dissection of heterosis using epistatic association mapping in a partial NCII mating design

Heterosis refers to the phenomenon in which an F1 hybrid exhibits enhanced growth or agronomic performance. However, previous theoretical studies on heterosis have been based on bi-parental segregating populations instead of F1 hybrids. To understand the genetic basis of heterosis, here we used a subset of F1 hybrids, named a partial North Carolina II design, to perform association mapping for dependent variables: original trait value, general combining ability (GCA), specific combining ability (SCA) and mid-parental heterosis (MPH). Our models jointly fitted all the additive, dominance and epistatic effects. The analyses resulted in several important findings: 1) Main components are additive and additive-by-additive effects for GCA and dominance-related effects for SCA and MPH, and additive-by-dominant effect for MPH was partly identified as additive effect; 2) the ranking of factors affecting heterosis was dominance > dominance-by-dominance > over-dominance > complete dominance; and 3) increasing the proportion of F1 hybrids in the population could significantly increase the power to detect dominance-related effects, and slightly reduce the power to detect additive and additive-by-additive effects. Analyses of cotton and rapeseed datasets showed that more additive-by-additive QTL were detected from GCA than from trait phenotype, and fewer QTL were from MPH than from other dependent variables.

A new three-locus model for rootstock-induced dwarfing in apple revealed by genetic mapping of root bark percentage

Rootstock-induced dwarfing of apple scions revolutionized global apple production during the twentieth century, leading to the development of modern intensive orchards. A high root bark percentage (the percentage of the whole root area constituted by root cortex) has previously been associated with rootstock induced dwarfing in apple. In this study, the root bark percentage was measured in a full-sib family of ungrafted apple rootstocks and found to be under the control of three loci. Two QTL for root bark percentage were found to co-localise to the same genomic regions on chromosome 5 and chromosome 11 previously identified as controlling dwarfing, Dw1 and Dw2, respectively. A third QTL was identified on chromosome 13 in a region that has not been previously associated with dwarfing. The development of closely linked 3 Sequence-tagged site STS markers improved the resolution of allelic classes thereby allowing the detection of dominance and epistatic interactions between loci, with high root bark percentage only occurring in specific allelic combinations. In addition, we report a significant negative correlation between root bark percentage and stem diameter (an indicator of tree vigour), measured on a clonally propagated grafted subset of the mapping population. The demonstrated link between root bark percentage and rootstock-induced dwarfing of the scion leads us to propose a three-locus model that is able to explain levels of dwarfing from the dwarf ‘M.27’ to the semi-invigorating rootstock ‘M.116’. Moreover, we suggest that the QTL on chromosome 13 (Rb3) might be analogous to a third dwarfing QTL, Dw3 that has not previously been identified.

Anticipating future risk in social-ecological systems using fuzzy cognitive mapping: the case of wildfire in the Chiquitania, Bolivia

Understanding complex social-ecological systems, and anticipating how they may respond to rapid change, requires an approach that incorporates environmental, social, economic, and policy factors, usually in a context of fragmented data availability. We employed fuzzy cognitive mapping (FCM) to integrate these factors in the assessment of future wildfire risk in the Chiquitania region, Bolivia. In this region, dealing with wildfires is becoming increasingly challenging due to reinforcing feedbacks between multiple drivers. We conducted semi-structured interviews and constructed different FCMs in focus groups to understand the regional dynamics of wildfire from diverse perspectives. We used FCM modelling to evaluate possible adaptation scenarios in the context of future drier climatic conditions. Scenarios also considered possible failure to respond in time to the emergent risk. This approach proved of great potential to support decision-making for risk management. It helped identify key forcing variables and generate insights into potential risks and trade-offs of different strategies. All scenarios showed increased wildfire risk in the event of more droughts. The ‘Hands-off’ scenario resulted in amplified impacts driven by intensifying trends, affecting particularly the agricultural production. The ‘Fire management’ scenario, which adopted a bottom-up approach to improve controlled burning, showed less trade-offs between wildfire risk reduction and production compared to the ‘Fire suppression’ scenario. Findings highlighted the importance of considering strategies that involve all actors who use fire, and the need to nest these strategies for a more systemic approach to manage wildfire risk. The FCM model could be used as a decision-support tool and serve as a ‘boundary object’ to facilitate collaboration and integration of different forms of knowledge and perceptions of fire in the region. This approach has also the potential to support decisions in other dynamic frontier landscapes around the world that are facing increased risk of large wildfires.

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and second pharyngeal arches, is characterized by malformed ears (`question mark ears`), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia. Penetrance seems to be complete, but there is high inter-and intra-familial phenotypic variation, with no evidence of genetic heterogeneity. We herein describe a new multigeneration family with 11 affected individuals (F1), in whom we confirm intra-familial clinical variability. Facial asymmetry, a clinical feature not highlighted in other ACS reports, was highly prevalent among the patients reported here. The gene responsible for ACS is still unknown and its identification will certainly contribute to the understanding of human craniofacial development. No chromosomal rearrangements have been associated with ACS, thus mapping and positional cloning is the best approach to identify this disease gene. To map the ACS gene, we conducted linkage analysis in two large ACS families, F1 and F2 (F2; reported elsewhere). Through segregation analysis, we first excluded three known loci associated with disorders of first and second pharyngeal arches (Treacher Collins syndrome, oculo-auriculo-vertebral spectrum, and Townes-Brocks syndrome). Next, we performed a wide genome search and we observed evidence of linkage to 1p21.1-q23.3 in F2 (LOD max 3.01 at theta = 0). Interestingly, this locus was not linked to the phenotype segregating in F1. Therefore, our results led to the mapping of a first locus of ACS (ACS1) and also showed evidence for genetic heterogeneity, suggesting that there are at least two loci responsible for this phenotype.

Towards the main sequence: detailed analysis of weak line and post-T Tauri stars

A detailed study was performed for a sample of low-mass pre-main-sequence (PMS) stars, previously identified as weak-line T Tauri stars, which are compared to members of the Tucanae and Horologium Associations. Aiming to verify if there is any pattern of abundances when comparing the young stars at different phases, we selected objects in the range from 1 to 100 Myr, which covers most of PMS evolution. High-resolution optical spectra were acquired at European Southern Observatory and Observatorio do Pico dos Dias. The stellar fundamental parameters effective temperature and gravity were calculated by excitation and ionization equilibria of iron absorption lines. Chemical abundances were obtained via equivalent width calculations and spectral synthesis for 44 per cent of the sample, which shows metallicities within 0.5 dex solar. A classification was developed based on equivalent width of Li I 6708 angstrom and Ha lines and spectral types of the studied stars. This classification allowed a separation of the sample into categories that correspond to different evolutive stages in the PMS. The position of these stars in the Hertzsprung-Russell diagram was also inspected in order to estimate their ages and masses. Among the studied objects, it was verified that our sample actually contains seven weak-line T Tauri stars, three are Classical T Tauri, 12 are Fe/Ge PMS stars and 21 are post-T Tauri or young main-sequence stars. An estimation of circumstellar luminosity was obtained using a disc model to reproduce the observed spectral energy distribution. Most of the stars show low levels of circumstellar emission, corresponding to less than 30 per cent of the total emission.

Gravimetric study of a potential mineral deposit in the Itapororoca region, Brazil

A semi-detailed gravity survey was carried out over an area of 650 km(2) localized in the Eo-Neoproterozoic coastal zone of Paraiba State where 548 new gravity stations were added to the existing database. Gravity measurements were made with a LaCoste and Romberg model G meter with a precision of 0.04 mGal. The altitude was determined by barometric levelling with a fixed base achieving a 1.2 m measure of uncertainty, corresponding to an overall accuracy of 0.24 mGal for the Bouguer anomaly. The residual Bouguer map for a 7th degree regional polynomial showed a circumscribed negative anomaly coincident with a localized aero-magnetic anomaly and with hydro-thermally altered outcrops, near the city of Itapororoca. The 3D gravity modelling, constrained by geologic mapping was interpreted as a low density, fractured and/or altered material with a most probable volume of approximately 23 km(3), extending to about 8,500 m depth. This result is in accordance with a volcanic body associated with hydrothermal processes accompanied by surface mineralization evidence, which may be of interest to the mining industry.

Mapping low- and high-density clouds in astrophysical nebulae by imaging forbidden line emission

Emission line ratios have been essential for determining physical parameters such as gas temperature and density in astrophysical gaseous nebulae. With the advent of panoramic spectroscopic devices, images of regions with emission lines related to these physical parameters can, in principle, also be produced. We show that, with observations from modern instruments, it is possible to transform images taken from density-sensitive forbidden lines into images of emission from high- and low-density clouds by applying a transformation matrix. In order to achieve this, images of the pairs of density-sensitive lines as well as the adjacent continuum have to be observed and combined. We have computed the critical densities for a series of pairs of lines in the infrared, optical, ultraviolet and X-rays bands, and calculated the pair line intensity ratios in the high- and low-density limit using a four- and five-level atom approximation. In order to illustrate the method, we applied it to Gemini Multi-Object Spectrograph (GMOS) Integral Field Unit (GMOS-IFU) data of two galactic nuclei. We conclude that this method provides new information of astrophysical interest, especially for mapping low- and high-density clouds; for this reason, we call it `the ld/hd imaging method`.

Gene Mapping of 18S and 5S rDNA Genes in the Karyotype of the Three-Spot Gourami Trichogaster trichopterus (Perciformes, Osphronemidae)

Ornamental fish culture is important as an economic activity and for biodiversity conservation as well. The species of the genus Trichogaster (Perciformes, Osphronemidae), popularly known as three-spot gourami, are among the several commercial species raised around the world. In the present work, eight specimens of Thrichogaster trichopterus from aquarium trade facilities were analyzed. The karyotype was composed of 23 pairs of subtelo/acrocentric chromosomes. Fluorescent in situ hybridization allowed identifying the 18S ribosomal gene at telomeric region on long arms of the largest acrocentric pair. On the other hand, the 5S rRNA gene is located at a proximal region on a pair of medium-sized chromosomes. Such information is extremely useful in face of the risks of introduction and the development of ornamental fish trade, once many fish species can be identified only by genetic studies.

Genomic Analysis of Wild Tomato Introgressions Determining Metabolism- and Yield-Associated Traits

With the aim of determining the genetic basis of metabolic regulation in tomato fruit, we constructed a detailed physical map of genomic regions spanning previously described metabolic quantitative trait loci of a Solanum pennellii introgression line population. Two genomic libraries from S. pennellii were screened with 104 colocated markers from five selected genomic regions, and a total of 614 bacterial artificial chromosome (BAC)/cosmids were identified as seed clones. Integration of sequence data with the genetic and physical maps of Solanum lycopersicum facilitated the anchoring of 374 of these BAC/cosmid clones. The analysis of this information resulted in a genome-wide map of a nondomesticated plant species and covers 10% of the physical distance of the selected regions corresponding to approximately 1% of the wild tomato genome. Comparative analyses revealed that S. pennellii and domesticated tomato genomes can be considered as largely colinear. A total of 1,238,705 bp from both BAC/cosmid ends and nine large insert clones were sequenced, annotated, and functionally categorized. The sequence data allowed the evaluation of the level of polymorphism between the wild and cultivated tomato species. An exhaustive microsynteny analysis allowed us to estimate the divergence date of S. pennellii and S. lycopersicum at 2.7 million years ago. The combined results serve as a reference for comparative studies both at the macrosyntenic and microsyntenic levels. They also provide a valuable tool for fine-mapping of quantitative trait loci in tomato. Furthermore, they will contribute to a deeper understanding of the regulatory factors underpinning metabolism and hence defining crop chemical composition.

Neuronal Expression of Cd36, Cd44, and Cd83 Antigen Transcripts Maps to Distinct and Specific Murine Brain Circuits

Cells recruited by the innate immune response rely on surface-expressed molecules in order to receive signals from the local environment and to perform phagocytosis, cell adhesion, and others processes linked to host defense. Hundreds of surface antigens designated through a cluster of differentiation (CD) number have been used to identify particular populations of leukocytes. Surprisingly, we verified that the genes that encode Cd36 and Cd83 are constitutively expressed in specific neuronal cells. For instance, Cd36 mRNA is expressed in some regions related to circuitry involved in pheromone responses and reproductive behavior. Cd44 expression, reanalyzed and detailed here, is associated with the laminar formation and midline thalamic nuclei in addition to striatum, extended amygdala, and a few hypothalamic, cortical, and hippocampal regions. A systemic immune challenge was able to increase Cd44 expression quickly in the area postrema and motor nucleus of the vagus but not in regions presenting expressive constitutive expression. In contrast to Cd36 and Cd44, Cd83 message was widely distributed from the olfactory bulb to the brain stem reticular formation, sparing the striatopallidum, olivary region, and cerebellum. Its pattern of expression nevertheless remained strongly associated with hypothalamic, thalamic, and hindbrain nuclei. Unlike the other transcripts, Cd83 mRNA was rapidly modulated by restraint stress. Our results indicate that these molecules might play a role in specific neural circuits and present functions other than those attributed to leukocyte biology. The data also suggest that these surface proteins, or their associated mRNA, could be used to label neurons in specific circuits/regions. J. Comp. Neurol. 517:906-924, 2009. (C) 2009 Wiley-Liss, Inc.

OntoMap: an ontology-based architecture to perform the semantic mapping between an interlingua and software components

This paper is about the use of natural language to communicate with computers. Most researches that have pursued this goal consider only requests expressed in English. A way to facilitate the use of several languages in natural language systems is by using an interlingua. An interlingua is an intermediary representation for natural language information that can be processed by machines. We propose to convert natural language requests into an interlingua [universal networking language (UNL)] and to execute these requests using software components. In order to achieve this goal, we propose OntoMap, an ontology-based architecture to perform the semantic mapping between UNL sentences and software components. OntoMap also performs component search and retrieval based on semantic information formalized in ontologies and rules.

Least square projection: A fast high-precision multidimensional projection technique and its application to document mapping

The problem of projecting multidimensional data into lower dimensions has been pursued by many researchers due to its potential application to data analyses of various kinds. This paper presents a novel multidimensional projection technique based on least square approximations. The approximations compute the coordinates of a set of projected points based on the coordinates of a reduced number of control points with defined geometry. We name the technique Least Square Projections ( LSP). From an initial projection of the control points, LSP defines the positioning of their neighboring points through a numerical solution that aims at preserving a similarity relationship between the points given by a metric in mD. In order to perform the projection, a small number of distance calculations are necessary, and no repositioning of the points is required to obtain a final solution with satisfactory precision. The results show the capability of the technique to form groups of points by degree of similarity in 2D. We illustrate that capability through its application to mapping collections of textual documents from varied sources, a strategic yet difficult application. LSP is faster and more accurate than other existing high-quality methods, particularly where it was mostly tested, that is, for mapping text sets.

Two-Phase Mapping for Projecting Massive Data Sets

Most multidimensional projection techniques rely on distance (dissimilarity) information between data instances to embed high-dimensional data into a visual space. When data are endowed with Cartesian coordinates, an extra computational effort is necessary to compute the needed distances, making multidimensional projection prohibitive in applications dealing with interactivity and massive data. The novel multidimensional projection technique proposed in this work, called Part-Linear Multidimensional Projection (PLMP), has been tailored to handle multivariate data represented in Cartesian high-dimensional spaces, requiring only distance information between pairs of representative samples. This characteristic renders PLMP faster than previous methods when processing large data sets while still being competitive in terms of precision. Moreover, knowing the range of variation for data instances in the high-dimensional space, we can make PLMP a truly streaming data projection technique, a trait absent in previous methods.