983 resultados para Y-chromosome Diversity
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[spa] Este estudio se basa en dos cuestiones de actualidad, por una parte: 'La discriminación en el ámbito del trabajo' en la que se estudia la normativa y la doctrina tanto Comunitaria como española, la defensa de la 'no discriminación' y el 'Principio de igualdad', así como las modalidades discriminatorias que se dan en las relaciones laborales. Por otra parte 'La gestión de la diversidad en los recursos humanos' donde se trata de los valores corporativos, el código ético, planes de igualdad y ventajas en la gestión de la diversidad. Cuestiones que la empresa del S. XXI, tendrá que abordar de acuerdo con los nuevos tiempos.
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BackgroundBipolar disorder is a highly heritable polygenic disorder. Recent enrichment analyses suggest that there may be true risk variants for bipolar disorder in the expression quantitative trait loci (eQTL) in the brain.AimsWe sought to assess the impact of eQTL variants on bipolar disorder risk by combining data from both bipolar disorder genome-wide association studies (GWAS) and brain eQTL.MethodTo detect single nucleotide polymorphisms (SNPs) that influence expression levels of genes associated with bipolar disorder, we jointly analysed data from a bipolar disorder GWAS (7481 cases and 9250 controls) and a genome-wide brain (cortical) eQTL (193 healthy controls) using a Bayesian statistical method, with independent follow-up replications. The identified risk SNP was then further tested for association with hippocampal volume (n = 5775) and cognitive performance (n = 342) among healthy individuals.ResultsIntegrative analysis revealed a significant association between a brain eQTL rs6088662 on chromosome 20q11.22 and bipolar disorder (log Bayes factor = 5.48; bipolar disorder P = 5.85×10(-5)). Follow-up studies across multiple independent samples confirmed the association of the risk SNP (rs6088662) with gene expression and bipolar disorder susceptibility (P = 3.54×10(-8)). Further exploratory analysis revealed that rs6088662 is also associated with hippocampal volume and cognitive performance in healthy individuals.ConclusionsOur findings suggest that 20q11.22 is likely a risk region for bipolar disorder; they also highlight the informative value of integrating functional annotation of genetic variants for gene expression in advancing our understanding of the biological basis underlying complex disorders, such as bipolar disorder.
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Bulgaria is historically a multicultural society, composed of the Bulgarian (ethnic) majority and a number of ethnic minorities among which Bulgarian Turks and Roma are the largest. Both minority communities are stigmatized in contemporary Bulgaria, though to different degrees and for different reasons. Ethnic minorities' rights to preserve their culture, customs, and language are a topic of contentious debate. The purpose of this study was to examine individual- and context-level antecedents of the ethnic Bulgarian majority's support for multicultural rights of ethnic minorities. Multilevel regression analyses were conducted with International Social Survey Programme ISSP 2003 data (N = 920 in 28 Bulgarian districts). At the individual-level, an ethnic conception of the nation and anti-Roma symbolic prejudice were negatively related to support for multicultural rights, whereas national identification was positively related to the support of these rights. Over and above individual-level effects, and in line with recent extensions of intergroup contact theory, thepercentage ofBulgarianTurks withindistricts was positively related to support for multicultural rights. Importantly, support for multicultural rights was particularly high in districts characterized by ethnic diversity, that is, in districts with high proportions of both Bulgarian Turks and Roma. The beneficial effects of ethnic diversity and theoretical implications of findings are discussed.
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El objetivo de este artículo es presentar una investigación sobre el desarrollo del Programa Cooperar para Aprender /Aprender a Cooperar a través de un proceso de formación-asesoramiento, diseñado por el Grup de recerca Atenció a la diversitat (GRAD) de la Universidad de Vic. Presentamos los objetivos, centrados en el aprendizaje cooperativo y la inclusión del alumnado que encuentra más barreras para el aprendizaje y la participación en las aulas ordinarias. Describimos el diseño de investigación y los instrumentos para identificar los cambios en las representaciones del profesorado, la evaluación de los aprendizajes realizados con estructuras cooperativas, la cohesión del grupo clase y la evolución de los procesos de inclusión desde las fases de introducción hasta la consolidación del aprendizaje cooperativo, en los seis centros escolares en que se realiza la investigación. Finalizamos presentando algunos resultados iniciales de la investigación.
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Members of the bacterial genus Streptomyces are well known for their ability to produce an exceptionally wide selection of diverse secondary metabolites. These include natural bioactive chemical compounds which have potential applications in medicine, agriculture and other fields of commerce. The outstanding biosynthetic capacity derives from the characteristic genetic flexibility of Streptomyces secondary metabolism pathways: i) Clustering of the biosynthetic genes in chromosome regions redundant for vital primary functions, and ii) the presence of numerous genetic elements within these regions which facilitate DNA rearrangement and transfer between non-progeny species. Decades of intensive genetic research on the organization and function of the biosynthetic routes has led to a variety of molecular biology applications, which can be used to expand the diversity of compounds synthesized. These include techniques which, for example, allow modification and artificial construction of novel pathways, and enable gene-level detection of silent secondary metabolite clusters. Over the years the research has expanded to cover molecular-level analysis of the enzymes responsible for the individual catalytic reactions. In vitro studies of the enzymes provide a detailed insight into their catalytic functions, mechanisms, substrate specificities, interactions and stereochemical determinants. These are factors that are essential for the thorough understanding and rational design of novel biosynthetic routes. The current study is a part of a more extensive research project (Antibiotic Biosynthetic Enzymes; www.sci.utu.fi/projects/biokemia/abe), which focuses on the post-PKS tailoring enzymes involved in various type II aromatic polyketide biosynthetic pathways in Streptomyces bacteria. The initiative here was to investigate specific catalytic steps in anthracycline and angucycline biosynthesis through in vitro biochemical enzyme characterization and structural enzymology. The objectives were to elucidate detailed mechanisms and enzyme-level interactions which cannot be resolved by in vivo genetic studies alone. The first part of the experimental work concerns the homologous polyketide cyclases SnoaL and AknH. These catalyze the closure of the last carbon ring of the tetracyclic carbon frame common to all anthracycline-type compounds. The second part of the study primarily deals with tailoring enzymes PgaE (and its homolog CabE) and PgaM, which are responsible for a cascade of sequential modification reactions in angucycline biosynthesis. The results complemented earlier in vivo findings and confirmed the enzyme functions in vitro. Importantly, we were able to identify the amino acid -level determinants that influence AknH and SnoaL stereoselectivity and to determine the complex biosynthetic steps of the angucycline oxygenation cascade of PgaE and PgaM. In addition, the findings revealed interesting cases of enzyme-level adaptation, as some of the catalytic mechanisms did not coincide with those described for characterised homologs or enzymes of known function. Specifically, SnoaL and AknH were shown to employ a novel acid-base mechanism for aldol condenzation, whereas the hydroxylation reaction catalysed by PgaM involved unexpected oxygen chemistry. Owing to a gene-level fusion of two ancestral reading frames, PgaM was also shown to adopt an unusual quaternary sturucture, a non-covalent fusion complex of two alternative forms of the protein. Furthermore, the work highlighted some common themes encountered in polyketide biosynthetic pathways such as enzyme substrate specificity and intermediate reactivity. These are discussed in the final chapters of the work.
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El lanzamiento de las tabletas, especialmente la iPad de Apple en 2010, abrió la competencia entre las compañías de comunicación en el sentido de hacer disponible el contenido para este entorno de medios emergentes. La fuga de lectores de periódicos impresos y la consecuente caída en las ganancias por publicidad, forzó a las compañías periodísticas a que buscaran los otros medios de mantener sus negocios. La diversificación de productos y la penetración de los periódicos en dispositivos móviles constituyen un escenario prometedor para el medio. El vertiginoso volumen de ventas de las tabletas indica que en 2012 serán comercializadas más de 140 millones de unidades en el mundo. El diseño de los periódicos en tabletas está íntimamente ligado al diseño de la versión impresa por la fuerza de su metáfora. El desafío es encontrar un diseño de páginas propio, aprovechando el potencial multimedia sin interferir negativamente en la legibilidad y en el carácter intrínseco de informar.
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Los programas de inmersión lingüística han constituido y constituyen dentro del Sistema Educativo catalánla principal forma para que el alumnado de lengua familiar no-catalana aprenda una nueva lengua, el catalán,sin que, en su proceso de aprendizaje, vea mermado ni el desarrollo de su propia lengua ni su rendimientoacadémico. El éxito de la inmersión lingüística en las décadas anteriores ha sido frecuentemente utilizado comouno de los argumentos orientativos para justificar la política lingüística que se sigue en la escolarización de lainfancia extranjera. Sin embargo, los resultados obtenidos por investigaciones recientes parece que no avalanempíricamente dicho argumento. Este artículo analiza dichos resultados y expone, a partir del Plan para laLengua y Cohesión Social puesto en marcha por el Departamento de Educación de la Generalitat de Cataluña,cuáles son los retos que se presentan a su Sistema Educativo dentro del nuevo marco que supone el aumento de ladiversidad cultural y lingüística en la actual sociedad catalana
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The fungus Stemphylium solani causes leaf blight of tomato (Lycopersicon esculentum) in Brazil. In recent years, severe epidemics of a new leaf blight of cotton (Gossipium hyrsutum) caused by S. solani occurred in three major cotton-growing Brazilian states (PR, MT and GO). Molecular analysis was performed to assess the genetic diversity among the S. solani isolates from cotton, and to verify their relationship with representative S. solani isolates from tomato. Random amplified polymorphic DNA (RAPD) markers and internal transcribed spacers of ribosomal DNA (rDNA) were used to compare 33 monosporic isolates of S. solani (28 from cotton and five from tomato). An isolate of Alternaria macrospora from cotton was also used for comparison. RAPD analysis showed the presence of polymorphism between the genera and the species. The A. macrospora and the S. solani isolates from cotton and tomato were distinct from each other, and fell into separate groups. Variation by geographic region was observed for the tomato isolates but not for the cotton isolates. Amplifications of the ITS region using the primer pair ITS4/ITS5 resulted in a single PCR product of approximately 600 bp for all the isolates. Similarly, when amplified fragments were digested with eight restriction enzymes, identical banding patterns were observed for all the isolates. Hence, rDNA analysis revealed no inter-generic or intra-specific variation. The genetic difference observed between the cotton and the tomato isolates provides evidence that S. solani attacking cotton in Brazil belongs to a distinct genotype.
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New challenges have been created in the modern work environment as the diversity of the workforce is greater than ever in terms of generations. There will become a large demand of generation Y employees as the baby boomer generation employees retire at an accelerated rate. The purpose of this study is to investigate Y generation specific characteristics and to identify motivational systems to enhance performance. The research questions are: 1. What are Y generation characteristics? 2. What motivational systems organizations can form to motivate Y generation employees and in turn, create better performance? The Y generation specific characteristics identified from the literature include; achievement oriented; confident; educated; multitasking; having a need for feedback; needing management support; sociable and tech savvy. The proposed motivational systems can be found in four areas of the organization; HRM, training and development, communication and decision making policies. Three focus groups were held to investigate what would motivate generation Y employees to achieve better performance. Two of these focus groups were Finnish natives and the third consisted of international students. The HRM systems included flexibility and a culture of fun. It was concluded that flexibility within the workplace and role was a great source of motivation. Culture of fun was not responded to as favorably although most focus group participants rated enjoyableness as one of their top motivating factors. Training and development systems include training programs and mentoring as sources of potential motivation. Training programs were viewed as a mode to gain a better position and were not necessarily seen as motivational systems. Mentoring programs were not concluded to have a significant effect on motivation. Communication systems included keeping up with technology, clarity and goals as well as feedback. Keeping up with technology was seen as an ineffective tool to motivate. Clarity and goal setting was seen as very important to be able to perform but not necessarily motivating. Feedback had a highly motivating effect on these focus groups. Decision making policies included collaboration and teamwork as well as ownership. Teams were familiar and meet the social needs of Y generation employees and are motivating. Ownership was equated with trust and responsibility and was highly valued as well as motivating to these focus group participants.
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The genomes of 10 equine herpesvirus 1 (EHV-1) strains isolated in Argentina from 1979 to 1991, and a Japanese HH1 reference strain were compared by restriction endonuclease analysis. Two restriction enzymes, BamHI and BglII, were used and analysis of the electropherotypes did not show significant differences among isolates obtained from horses with different clinical signs. This suggests that the EHV-1 isolates studied, which circulated in Argentina for more than 10 years, belong to a single genotype.
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The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus to be compatible with life. In cases of structural chromosomal aberrations or hidden mosaicism, conventional cytogenetic techniques can be ineffective and molecular investigation is indicated. Two hundred and fifty patients with Turner syndrome stigmata were studied and 36 who had female genitalia and had been cytogenetically diagnosed as having "pure" 45,X karyotype were selected after 100 metaphases were analyzed in order to exclude mosaicism and the presence of genomic Y-specific sequences (SRY, TSPY, and DAZ) was excluded by PCR. Genomic DNA was extracted from peripheral blood and screened by the human androgen receptor (HUMARA) assay. The HUMARA gene has a polymorphic CAG repeat and, in the presence of a second chromosome with a different HUMARA allele, a second band will be amplified by PCR. Additionally, the CAG repeats contain two methylation-sensitive HpaII enzyme restriction sites, which can be used to verify skewed inactivation. Twenty-five percent (9/36) of the cases showed a cryptic mosaicism involving a second X and approximately 14% (5/36), or 55% (5/9) of the patients with cryptic mosaicism, also presented skewed inactivation. The laboratory identification of the second X chromosome and its inactivation pattern are important for the clinical management (hormone replacement therapy, and inclusion in an oocyte donation program) and prognostic counseling of patients with Turner syndrome.
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Although exceptions may be readily identified, two generalizations concerning genetic differences among species may be drawn from the available allozyme and chromosome data. First, structural gene differences among species vary widely. In many cases, species pairs do not differ more than intraspecific populations. This suggests that either very few or no gene substitutions are required to produce barriers to reproduction (Avise 1976). Second, chromosome form and/or number differs among even closely related species (White 1963; 1978; Fredga 1977; Wright 1970). Many of the observed chromosomal differences involve translocational rearrangements; these produce severe fitness depression in heterozygotes and were, thus, long considered unlikely candidates for the fixation required of genetic changes leading to speciation (Wright 1977). Nonetheless, the fact that species differences are frequently translocational argues convincingly for their fixation despite prejudices to the contrary. Haldane's rule states that in the F of interspecific crosses, the heterogametic sex is absent or sterile in the preponderance of cases (Haldane 1932). This rule definitely applies in the genus Dr°sophila (Ehrman 1962). Sex chromosome translocations do not impose a fitness depression as severe as that imposed by autosomal translocations, and X-Y translocations may account for Haldane's rule (Haldane 1932). Consequently a study of the fit ness parameters of an X·yL and a yS chromosome in Drosophila melanogaster populations was initiated by Tracey (1972). Preliminary results suggested that x.yL//YSmales enjoyed a mating advantage with X·yL//X·yL females, that this advantage was frequency dependent, that the translocation produced sexual isolation and that interactions between the yL, yS and a yellow marker contributed to the observed isolation (Tracey and Espinet 1976; Espinet and Tracey 1976). Encouraged by the results of these prelimimary studies, further experiments were performed to clarify the genetic nature of the observed sexual isolation, S the reality of the y frequency dependent fitness .and the behavioural changes, if any, produced by the translocation. The results of this work are reported herein. Although the marker genes used in earlier studies, sparkling poliert an d yellow have both been found to affect activity,but only yellow effects asymmetric sexual isolation. In addition yellow effects isolation through an interaction with the T(X-y) chromosomes, yS also effects isolation, and translocational strains are isolated from those of normal karyotype in the absence of marker gene differences. When yS chromosomes are in competition with y chromosomes on an X.yL background, yS males are at a distinct advantage only when their frequency is less than 97%. The sex chromosome translocation alters the normal courtship pattern by the incorporation of circling between vibration and licking in the male repertoire. Finally a model of speciation base on the fixation of this sex chromosome translocation in a geographically isolated gene pool is proposed.
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L’hypertension constitue un facteur majeur de risque de maladies cardiovasculaires et touche à un pourcentage important de la population humaine. Il s’agit d’une maladie complexe étant donné son caractère multifactoriel. La régulation de la pression artérielle (PA) est sous contrôle de plusieurs gènes, appelés loci pour traits quantitatifs ou QTL, et elle est le résultat de leur interaction. Étant donné que la PA est un trait quantitatif sous contrôle de plusieurs composantes comme les facteurs génétiques et environnementaux, l’étude de l’hypertension est limitée chez les populations humaines. Ainsi la stratégie principale pour l’étude de cette maladie est l’identification de QTL à PA chez des souches congéniques de rat construites à partir des lignées hyper- et normotendues; à savoir les souches Dahl salt-sensitive [1] et Lewis, respectivement. Des études précédentes dans notre laboratoire ont localisé trois QTL à PA au niveau du chromosome 18 chez le rat. Au cours de ce projet, de nouvelles sous-souches ont été construites afin de raffiner la cartographie de ces QTL. Ainsi, les C18QTL1, C18QTL3 et C18QTL4 ont été définis. Des analyses moléculaires ont été effectuées sur deux gènes candidats pour le C18QTL3; à savoir, Adrb2 et Nedd4l associés précédemment à l’hypertension. La comparaison des résultats de séquençage des régions régulatrices et codantes de ces deux gènes, ainsi que leur analyse d’expression par qRT-PCR chez les souches contrastantes DSS et Lewis, n’ont pas montré de différence significative pouvant expliquer la variation du phénotype observé. Des études plus poussées devront être effectuées sur ces deux gènes et, le cas échéant, l’analyse d’autres gènes contenus dans le C18QTL3 devra être entamée afin d’identifier le gène responsable de ce QTL.
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Cette recherche se construit autour d’un travail de terrain réalisé dans trois communautés autochtones quichuas vivant au nord de l’Équateur. Il prétend étudier l’incidence que devrait avoir la diversité culturelle et linguistique dans les politiques éducatives en milieu plurilingue et multiculturel. En Amérique hispanique, l’éducation des peuples autochtones n’a jamais été très attentive à leurs besoins spécifiques en ce qui a trait à l’apprentissage de l’espagnol comme langue seconde. En effet, les motivations des apprenants, plus instrumentales qu’intégratives, prouvent que les autochtones apprennent la langue espagnole presqu’exclusivement pour communiquer, sans vraiment être intéressés au groupe natif de cette langue. De plus, notre recherche sur le terrain avec les apprenants du peuple Otavalo nous a démontré que leur très forte identification ethnique influence l’acquisition de l’espagnol. D’une part, ils sont plus enclins à se distinguer des autres, spécialement des hispano parlants, et de l’autre, ils réussissent plus difficilement à atteindre une compétence élevée dans la langue seconde. Notre recherche conclut donc que l’éducation, qu’elle soit issue du système national ou bilingue, devrait davantage prendre en considération l’identité ethnolinguistique des nombreux enfants indigènes, afin de ne pas préjudicier leurs droits. Ceci permettrait de favoriser un apprentissage positif et significatif de l’espagnol comme langue seconde ou langue maternelle, mais tout en consolidant l’identité autochtone des apprenants.
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Mémoire numérisé par la Division de la gestion de documents et des archives de l'Université de Montréal.