983 resultados para Y-chromosome Diversity
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Universidad Técnica Particular de Loja
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[EN]One of the main questions in microbial ecology is to understand what are the processes that structure and govern the species composition of communities. Answering to this question implies the need to detect bacterial species in environmental samples or at least to define ecologically meaningful “units of differentiation”. The dynamics and distribution of different broad taxonomic groups that constitute the bacterioplankton (at the phylum or class level) has been widely studied. The different large groups are known to follow different spatial distributions and seasonal cycles, but important variations also occur at lower levels (i.e. species or ecologically distinct populations). In this thesis we aimed to study some of these aspects for an important group of marine bacteria: the phylum Bacteroidetes.
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[EN]Microeukaryotes are important ecological players in any kind of ecosystem, most notably in the ocean, and it is therefore essential to collect information about their abundance and diversity. To achieve this general goal this thesis was structured in two parts. The first part represents an effort to define our “diversity unit” from studies based on the well-known cloning and Sanger sequencing approach. Basically, we wanted to establish a solid baseline for the second part of the thesis. We started with data from one cruise (Chapter 1) and then continued with the analysis of the complete dataset of 18S DNA sequences available at that time (Chapter 2).
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The goal of many plant scientists’ research is to explain natural phenotypic variation in term of simple changes in DNA sequence. DNA-based molecular markers are extensively used for the construction of genome-wide molecular maps and to perform genetic analysis for simple and complex traits. The PhD thesis was divided into two main research lines according to the different approaches adopted. The first research line is to analyze the genetic diversity in an Italian apple germplasm collection for the identification of markers tightly linked to targeted genes by an association genetic method. This made it possible to identify synomym and homonym accessions and triploids. The fruit red skin color trait has been used to test the reliability of the genetic approaches in this species. The second line is related to the development of molecular markers closely linked to the Rvi13 and Rvi5 scab resistance genes, previously mapped on apple’s chromosome 10 and 17 respectively by using the traditional linkage mapping method. Both region have been fine-mapped with various type of markers that could be used for marker-assisted selection in future breeding programs and to isolate the two resistance genes.
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The diversity–stability hypothesis states that current losses of biodiversity can impair the ability of an ecosystem to dampen the effect of environmental perturbations on its functioning. Using data from a long-term and comprehensive biodiversity experiment, we quantified the temporal stability of 42 variables characterizing twelve ecological functions in managed grassland plots varying in plant species richness. We demonstrate that diversity increases stability i) across trophic levels (producer, consumer), ii) at both the system (community, ecosystem) and the component levels (population, functional group, phylogenetic clade), and iii) primarily for aboveground rather than belowground processes. Temporal synchronization across studied variables was mostly unaffected with increasing species richness. This study provides the strongest empirical support so far that diversity promotes stability across different ecological functions and levels of ecosystem organization in grasslands
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The aim of this study was to evaluate the prevalence of chromosome 8q gain in clear cell renal cell carcinoma (CCRCC) and to correlate the findings with tumor phenotype and disease-specific survival (DSS).
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Cardiomyopathies are myocardial diseases that lead to cardiac dysfunction, heart failure, arrhythmia, and sudden death. In human medicine, cardiomyopathies frequently warrant heart transplantation in children and adults. Bovine dilated cardiomyopathy (BDCMP) is a heart muscle disorder that has been observed during the last 30 years in cattle of Holstein-Friesian origin. In Switzerland BDCMP affects Swiss Fleckvieh and Red Holstein breeds. BDCMP is characterized by a cardiac enlargement with ventricular remodeling and chamber dilatation. The common symptoms in affected animals are subacute subcutaneous edema, congestion of the jugular veins, and tachycardia with gallop rhythm. A cardiomegaly with dilatation and hypertrophy of all heart chambers, myocardial degeneration, and fibrosis are typical postmortem findings. It was shown that all BDCMP cases reported worldwide traced back to a red factor-carrying Holstein-Friesian bull, ABC Reflection Sovereign. An autosomal recessive mode of inheritance was proposed for BDCMP. Recently, the disease locus was mapped to a 6.7-Mb interval MSBDCMP06-BMS2785 on bovine Chr 18 (BTA18). In the present study the BDCMP locus was fine mapped by using a combined strategy of homozygosity mapping and association study. A BAC contig of 2.9 Mb encompassing the crucial interval was constructed to establish the correct marker order on BTA18. We show that the disease locus is located in a gene-rich interval of 1.0 Mb and is flanked by the microsatellite markers DIK3006 and MSBDCMP51.
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Arachnomelia in Brown Swiss cattle is a monogenic autosomal recessive inherited congenital disorder of the skeletal system giving affected calves a spidery look (OMIA ID 000059). Over a period of 20 years 15 cases were sampled in the Swiss and Italian Brown cattle population. Pedigree data revealed that all affected individuals trace back to a single acknowledged carrier founder sire. A genome scan using 240 microsatellites spanning the 29 bovine autosomes showed homozygosity at three adjacent microsatellite markers on bovine Chr 5 in all cases. Linkage analysis confirmed the localization of the arachnomelia mutation in the region of the marker ETH10. Fine-mapping and haplotype analysis using a total of 34 markers in this region refined the critical region of the arachnomelia locus to a 7.19-Mb interval on bovine Chr 5. The disease-associated IBD haplotype was shared by 36 proven carrier animals and allows marker-assisted selection. As the corresponding human and mouse chromosome segments do not contain any clear functional candidate genes for this disorder, the mutation causing arachnomelia in the Brown Swiss cattle might help to identify an unknown gene in bone development.
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Phyteuma is a chromosomally and ecologically diverse vascular plant genus and constitutes an excellent system for studying both the role of chromosomal change for species diversification and the evolution of high-mountain biota. This kind of research is, however, hampered by the lack of a sound phylogenetic framework exacerbated by the notoriously low predictive power of traditional taxonomy with respect to phylogenetic relationships in Campanulaceae. Based on a comprehensive taxon sampling and analyses of nuclear and plastid sequence and AFLP fingerprint data, Phyteuma is confirmed as a monophyletic group sister to the monotypic Physoplexis, which is in line with their peculiar flower morphologies. Within Phyteuma two clades, largely corresponding to previously recognized sections, are consistently found. The traditional circumscription of taxonomic series is largely rejected. Whereas distinctness of the currently recognized species is mostly corroborated, some interspecific relationships remain ambiguous due to incongruences between nuclear and plastid data. Major forces for diversification and evolution of Phyteuma are descending dysploidy (i.e., a decrease in chromosome base number) as well as allopatric and ecological differentiation within the Alps, the genus' center of species diversity. (C) 2013 Elsevier Inc. All rights reserved.
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For over 3 centuries, diameter-limit harvesting has been a predominant logging method in the northeastern United States. Silvicultural theory asserts that such intensively selective harvesting can lead to genetic degradation. A decrease in softwood productivity has recently been reported in Maine - has a long history of dysgenic selection degraded the genetic resources of Maine softwoods, contributing to a decrease in growth and productivity? This study examines two aspects of potential implications of diameter-limit harvesting: effects on residual phenotypes of red spruce and impacts on genetic diversity of white pine. Radial growth of residual red spruce trees in stands experiencing 50 years of fixed diameter-limit harvesting was measured using annual increment rings and compared with residual red spruce trees in positive selection stands. Trees remaiaing after several rounds of diameter-limit harvesting exhibited sigdicantl y smaller radial sizes throughout their lives, and displayed significantly slower growth rates for the first 80 years of measured growth. These results strongly suggest that the largest and fastest-growing genotypes and their respective gene complexes determining good radial growth have been removed from the diameter-limit stand. Dysgenic selection can be observed in fixed diarneter-limit stands, resulting in a diminished genetic resource and decreased residual stand value. To examine more direct genetic implications of long-term diameter-limit harvesting, microsatellite DNA markers were implemented to study genetic diversity of eastern white pine in Maine. Three age groups of trees were studied: mature trees older than 200 years, juvenile trees 5-30 years old, and embryos. Trees were genotyped at 10 microsatellite loci. Overall genetic diversity levels of eastern white pine in Maine were extremely high, with an average observed heterozygosity of 0.762. Genetic differentiation was minimal among and between all three age groups, although an excess of heterozygotes was shown in the mature and juvenile groups that was not reflected in the embryo group, which actually had a slight heterozygote deficiency. Allele frequencies did not differ significantly between age groups, but did reveal more rare and low frequency alleles in the embryo groups than in the mature group. Overall, low frequency alleles comprise the largest portion of alleles in the sample population, with no common alleles evident overall. These results suggest that significant genetic degradation has either not occurred for white pine, or that the results of dysgenic selection have not yet emerged. It is clear, however, that selective harvesting could result in a loss of low frequency alleles, which are a primary reserve of evolutionary potential in a species. Implications of these studies affect industrial forestry, regional economics, and ecological concerns for the northeast. Long-term diameter-limit harvesting can lead to a degradation of residual phenotypes, and an overall decrease in stand quality. Potentially, a loss of low frequency, locally adapted alleles could result in a decrease of allelic richness and degradation of the regidnal genetic resource. Decreased genetic variation can lead to seriously limited evolutionary potential of species and ecosystems, particularly in rapidly changing environments. Based on these findings, I recommend a reassessment of any harvesting prescription that includes fixed diameter-limit removals, particularly for species that have low natural genetic diversity levels or a limited natural range, such as red spruce. Maintenance of a healthy genetic reserve can avoid effects of dysgenic harvesting.
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Afirma el estudioso José Romera Castillo que en el período que va de 1975 hasta nuestros días han ido apareciendo (o se han rescatado) en España escritos diarísticos diversos en calidad y modalidad. Voy a insistir sobre esta calificación de “diversa modalidad" para analizar los diarios de la escritora española Carmen Martín Gaite (1925-2000), publicados en el año 2001 y 2005 con los títulos Cuadernos de todo y Visión de Nueva York, respectivamente. Estas colecciones de escritos íntimos aparecidas póstumamente, reafirman la poética de la autora, presente de manera implícita en sus novelas y desarrollada en sus libros de ensayos e investigación. La intrincada relación entre literatura y vida, presente siempre en toda su producción, se manifiesta con toda claridad en estos textos, que revelan la continuidad de su labor de escritora en cada momento de su vida y la coherencia de su ideario.
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Nos proponemos en este trabajo tensionar los conceptos de discapacidad, sujeto y educación desde las miradas interdisciplinarias de un equipo que trabaja en una institución de escolaridad especial. Las concepciones epistemológicas que subyacen a las prácticas en la educación especial, como en otros campos, generan acciones y efectos de viejas y nuevas teorías. Revisamos estos supuestos y la naturalización de las prácticas y de las perspectivas. Como equipo hacemos referencia a la necesidad de un proceso permanente de construcción del rol, que permita pensarnos, interactuar, interrogarnos y discutir las diferentes intervenciones institucionales y comunitarias. Así, la conformación interdisciplinaria del equipo nos permite beneficiarnos con una mirada crítica hacia la diversidad y conformar una multiplicidad de observaciones sobre el objeto, lo que implica un capital simbólico muy importante. En éste trabajo es nuestro interés reflexionar acerca de las prácticas interprofesionales en los ámbitos donde se desarrollan los procesos educativos, tendientes a generar procesos de subjetivación y de construcción de ciudadanía posibilitando instancias de autonomía en los alumnos.
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La familia Amaryllidaceae se encuentra distribuida en diversas regiones de Chile y Sudamérica. De los 11 géneros reconocidos por Ravenna, al menos tres de ellos presentan un reconocido potencial ornamental: Miltinea Ravenna, endémico de Chile y conformado por la especie Miltinea maulensis (Ravenna) Ravenna, Phycella Lindley, endémico de Chile, conformado por cuatro especies y distribuido desde el valle de Elqui hasta la altura de la región de Arauco y Rhodophiala C. Presl. presente en el sur de Brasil, Uruguay, Bolivia, Argentina y Chile conformado por un número aproximado de 40 especies. Actualmente, la información taxonómica tradicional para diferenciar los géneros presentes en Chile es insuficiente. Es por ello que se utilizó la citotaxonomía como una herramienta y fuente de evidencia taxonómica. El objetivo de esta investigación fue realizar un estudio comparativo de los cariotipos en representantes de tres géneros de Amaryllidaceae que crecen en Chile con el fin de ayudar a clarificar la posición taxonómica de ellos. Las especies analizadas fueron: Miltinea maulensis (Ravenna) Ravenna, Phycella australis Ravenna, Rhodophiala araucana (Phil.) Traub, Rhodophiala montana (Phil.) Traub, y Rhodophiala pratensis (Poepp.) Traub. Los resultados obtenidos indicaron que Miltinea maulensis y Phycella australis presentan características cariológicas muy similares, tanto en el número cromosómico, fórmula cariotípica e índices cromosómicos. Estas características permitirían considerar Miltinea como un sinónimo de Phycella. Por último, las tres especies de Rhodophiala analizadas comparten características citológicas muy similares, como por ejemplo, la presencia de una región NOR en el brazo largo del cromosoma 7, idéntico número cromosómico e índices de asimetría de los cariotipos casi iguales.
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La antropología como ciencia ha sido considerada hija del colonialismo europeo. En este sentido comparte un destino similar al de la literatura de viajes e incluso puede ser considerada como el vástago más cercano a las ciencias naturales de esta última. En la conformación de su programa de investigación -que también puede comprenderse como la aplicación de la teoría evolucionista a la historia de la cultura humana-, la literatura de viajes. con su vocación referencial y su insistencia en la descripción de la diversidad humana y geográfica, ha jugado un papel fundamental. En este trabajo se intenta realizar aportes, desde algunos textos de Alexander von Humboldt, como viajero y autor de textos que pueden ser considerados parte de la literatura de viajes, a la distinción de ambos ámbitos, el literario y el más definidamente antropológico.