9 resultados para structural variation
em BORIS: Bern Open Repository and Information System - Berna - Suiça
Resumo:
Carotenoid-based yellowish to red plumage colors are widespread visual signals used in sexual and social communication. To understand their ultimate signaling functions, it is important to identify the proximate mechanism promoting variation in coloration. Carotenoid-based colors combine structural and pigmentary components, but the importance of the contribution of structural components to variation in pigment-based colors (i.e., carotenoid-based colors) has been undervalued. In a field experiment with great tits (Parus major), we combined a brood size manipulation with a simultaneous carotenoid supplementation in order to disentangle the effects of carotenoid availability and early growth condition on different components of the yellow breast feathers. By defining independent measures of feather carotenoid content (absolute carotenoid chroma) and background structure (background reflectance), we demonstrate that environmental factors experienced during the nestling period, namely, early growth conditions and carotenoid availability, contribute independently to variation in yellow plumage coloration. While early growth conditions affected the background reflectance of the plumage, the availability of carotenoids affected the absolute carotenoid chroma, the peak of maximum ultraviolet reflectance, and the overall shape, that is, chromatic information of the reflectance curves. These findings demonstrate that environment-induced variation in background structure contributes significantly to intraspecific variation in yellow carotenoid-based plumage coloration.
Resumo:
Cytochrome P450 proteins are involved in metabolism of drugs and xenobiotics. In the endoplasmic reticulum a single nicotinamide adenine dinucleotide phosphate (NADPH) P450 oxidoreductase (POR) supplies electrons to all microsomal P450s for catalytic activity. POR is a flavoprotein that contains both flavin mononucleotide and flavin adenine dinucleotide as cofactors and uses NADPH as the source of electrons. We have recently reported a number of POR mutations in the patients with disordered steroidogenesis. In the first report we had described missense mutations (A287P, R457H, V492E, C569Y, and V608F) identified in four patients with defects in steroid production. Each POR variant was produced as recombinant N-27 form of the enzyme in bacteria and as full-length form in yeast. Membranes from bacteria or yeast expressing normal or variant POR were purified and their activities were characterized in cytochrome c and CYP17A1 assays. Later we have published a larger study that described a whole range of POR mutations and characterized the mutants/polymorphisms A115V, T142A, M263V, Y459H, A503V, G539R, L565P, R616X, V631I, and F646del from the sequencing of patient DNA. We also studied POR variants Y181D, P228L, R316W, G413S, and G504R that were available in public databases or published literature. Three-dimensional structure of rat POR is known and we have used this structure to deduce the structure-function correlation of POR mutations in human. The missense mutations found in patients with disordered steroidogenesis are generally in the co-factor binding and functionally important domains of POR and the apparent polymorphisms are found in regions with lesser structural importance. A variation in POR can alter the activity of all microsomal P450s, and therefore, can affect the metabolism of drugs and xenobiotics even when the P450s involved are otherwise normal. It is important to study the genetic and biochemical basis of POR variants in human population to gain information about possible differences in P450 mediated reactions among the individuals carrying a variant or polymorphic form of POR that could impact their metabolism.
Resumo:
OBJECTIVE: Understanding of articular cartilage physiology, remodelling mechanisms, and evaluation of tissue engineering repair methods requires reference information regarding normal structural organization. Our goals were to examine the variation of cartilage cell and matrix morphology in different topographical areas of the adult human knee joint. METHODS: Osteochondral explants were acquired from seven distinct anatomical locations of the knee joints of deceased persons aged 20-40 years and prepared for analysis of cell, matrix and tissue morphology using confocal microscopy and unbiased stereological methods. Differences between locations were identified by statistical analysis. RESULTS: Medial femoral condyle cartilage had relatively high cell surface area per unit tissue volume in the superficial zone. In the transitional zone, meniscus-covered lateral tibia cartilage showed elevated chondrocyte densities compared to the rest of the knee while lateral femoral condyle cartilage exhibited particularly large chondrocytes. Statistical analyses indicated highly uniform morphology throughout the radial zone (lower 80% of cartilage thickness) in the knee, and strong similarities in cell and matrix morphologies among cartilage from the femoral condyles and also in the mediocentral tibial plateau. Throughout the adult human knee, the mean matrix volume per chondron was remarkably constant at approximately 224,000 microm(3), corresponding to approximately 4.6 x 10(6) chondrons per cm(3). CONCLUSIONS: The uniformity of matrix volume per chondron throughout the adult human knee suggests that cell-scale biophysical and metabolic constraints may place limitations on cartilage thickness, mechanical properties, and remodelling mechanisms. Data may also aid the evaluation of cartilage tissue engineering treatments in a site-specific manner. Results indicate that joint locations which perform similar biomechanical functions have similar cell and matrix morphologies; findings may therefore also provide clues to understanding conditions under which focal lesions leading to osteoarthritis may occur.
Resumo:
The presence of soluble carbohydrates in the cambial zone, either from sugars recently produced during photosynthesis or from starch remobilized from storage organs, is necessary for radial tree growth. However, considerable uncertainties on carbohydrate dynamics and the consequences on tree productivity exist. This study aims to better understand the variation in different carbon pools at intra-annual resolution by quantifying how cambial zone sugar and starch concentrations fluctuate over the season and in relation to cambial phenology. A comparison between two physiologically different species growing at the same site, i.e., the evergreen Picea abies Karst. and the deciduous Larix decidua Mill., and between L. decidua from two contrasting elevations, is presented to identify mechanisms of growth limitation. Results indicate that the annual cycle of sugar concentration within the cambial zone is coupled to the process of wood formation. The highest sugar concentration is observed when the number of cells in secondary wall formation and lignification stages is at a maximum, subsequent to most radial growth. Starch disappears in winter, while other freeze-resistant non-structural carbohydrates (NSCs) increase. Slight differences in NSC concentration between species are consistent with the differing climate sensitivity of the evergreen and deciduous species investigated. The general absence of differences between elevations suggests that the cambial activity of trees growing at the treeline was not limited by the availability of carbohydrates at the cambial zone but instead by environmental controls on the growing season duration.
Resumo:
Young peoples’ sport activity in Switzerland differs considerably depending on the linguistic region (Lamprecht, Fischer, & Stamm, 2008). This appears to be based on cultural as well as on structural differences. The question then arises how differing structural conditions in communes (e.g. sport facilities, significance of the municipal promotion of sport) across different linguistic regions of Switzerland cause variation in sport behaviour. Based on the theory of social action (Coleman, 1990), it is assumed that individual behaviour is not only determined by individual but also by structural and socio-cultural factors in which a person is socially embedded. In two case studies, multilevel data was gathered analysing possible influences of structural factors on sports behaviour. Using an online survey, 15 to 25 year old inhabitants (N = 205) living in a German and French speaking commune were questioned about their sports participation in and outside of their commune, as well as their perception of sport-related structural characteristics in their commune. To collect information about communes’ sport facilities, the sport providers (N = 23) were interviewed. Sport-related characteristics of the communes were also collected through two interviews with representatives of the municipal administration. As expected, sport participation is significantly lower in the French speaking commune (Chi2 (1, N = 205) = 3.84, p < .05). Adolescents and young adults living in the French speaking commune are less satisfied with the sport infrastructure (F(1,135) = 9.65, p < .01) and evaluate the opportunities to be physically active in their commune significantly worse (F(1,144) = 15.33, p < .01) than their German-speaking counterparts. These first findings show the impact of structural conditions in communes on sport participation of adolescents and young people. However, it must be noted that this study is explorative and further communes would need to be examined in order to generalize the results. References Coleman, J. S. (1990). Foundations of social theory. Cambridge, MA: Belknap. Lamprecht, M., Fischer, A. & Stamm, H. (2008). Sport Schweiz 2008. Das Sportverhalten der Schweizer Bevölkerung. Magglingen: BASPO.
Resumo:
Duplicate genes emerge as copy-number variations (CNVs) at the population level, and remain copy-number polymorphic until they are fixed or lost. The successful establishment of such structural polymorphisms in the genome plays an important role in evolution by promoting genetic diversity, complexity and innovation. To characterize the early evolutionary stages of duplicate genes and their potential adaptive benefits, we combine comparative genomics with population genomics analyses to evaluate the distribution and impact of CNVs across natural populations of an eco-genomic model, the three-spined stickleback. With whole genome sequences of 66 individuals from populations inhabiting three distinct habitats, we find that CNVs generally occur at low frequencies and are often only found in one of the 11 populations surveyed. A subset of CNVs, however, displays copy-number differentiation between populations, showing elevated within-population frequencies consistent with local adaptation. By comparing teleost genomes to identify lineage-specific genes and duplications in sticklebacks, we highlight rampant gene content differences among individuals in which over 30% of young duplicate genes are CNVs. These CNV genes are evolving rapidly at the molecular level and are enriched with functional categories associated with environmental interactions, depicting the dynamic early copy-number polymorphic stage of genes during population differentiation.
Resumo:
Young peoples’ sport activity differs considerably depending on the linguistic region in Switzerland (Lamprecht, Fischer, & Stamm, 2014). This appears to be based on cultural as well as on structural differences. The question then arises how differing structural conditions in communes (e.g. sport facilities, significance of the municipal promotion of sport) across different linguistic regions of Switzerland cause variation in sport behaviour. Based on the theory of social action (Coleman, 1990), it is assumed that individual behaviour is not only determined by individual but also by structural and socio - cultural factors in which a person is socially embedded . In 33 municipalities of the German and French speaking region of Switzerland, multilevel data was gathered analysing possible influences of structural factors on sports behaviour. Using an online survey, 15 to 30 year old inhabitants (N=3677) were questi oned about their sports participation, as well as their perception of sport - related structural characteristics in their commune. To collect information about communes’ sport facilities, sport providers as well as representatives of the municipal administra tion were interviewed and document analyses were conducted. Representatives of the municipal administration attach more importance to sport promotion in the German speaking than in French - speaking municipalities. Young people living in the French speaking commune are less satisfied with the sport facilities (F(1,3266)=31.31, p<.01) and they are less physically active than their German - speaking counterparts (Chi2(1,N=3537)=22.51, p<.05). These first findings show the impact of structural conditions in commun es on sport participation of adolescents and young people. However, further multilevel analyses will be conducted for a better understanding of correlations between structural conditions and different sports behaviour of young people. References Coleman, J. S. (1990). Foundations of social theory. Cambridge, MA: Belknap. Lamprecht, M., Fischer, A. & Stamm, H. (2014). Sport Schweiz 2014. Sportaktivität und Sportinteresse der Schweizer Bevölkerung. Magglingen: BASPO.