Natural selection on EPAS1 (HIF2 alpha) associated with low hemoglobin concentration in Tibetan highlanders

By impairing both function and survival, the severe reduction in oxygen availability associated with high-altitude environments is likely to act as an agent of natural selection. We used genomic and candidate gene approaches to search for evidence of such genetic selection. First, a genome-wide allelic differentiation scan (GWADS) comparing indigenous highlanders of the Tibetan Plateau (3,200 3,500 m) with closely related lowland Han revealed a genome-wide significant divergence across eight SNPs located near EPAS1. This gene encodes the transcription factor HIF2 alpha, which stimulates production of red blood cells and thus increases the concentration of hemoglobin in blood. Second, in a separate cohort of Tibetans residing at 4,200 m, we identified 31 EPAS1 SNPs in high linkage disequilibrium that correlated significantly with hemoglobin concentration. The sex-adjusted hemoglobin concentration was, on average, 0.8 g/dL lower in the major allele homozygotes compared with the heterozygotes. These findings were replicated in a third cohort of Tibetans residing at 4,300 m. The alleles associating with lower hemoglobin concentrations were correlated with the signal from the GWADS study and were observed at greatly elevated frequencies in the Tibetan cohorts compared with the Han. High hemoglobin concentrations are a cardinal feature of chronic mountain sickness offering one plausible mechanism for selection. Alternatively, as EPAS1 is pleiotropic in its effects, selection may have operated on some other aspect of the phenotype. Whichever of these explanations is correct, the evidence for genetic selection at the EPAS1 locus from the GWADS study is supported by the replicated studies associating function with the allelic variants.

Evolution of vertebrate steroid receptors from an ancestral estrogen receptor by ligand exploitation and serial genome expansions

The evolution of novelty in tightly integrated biological systems, such as hormones and their receptors, seems to challenge the theory of natural selection: it has not been clear how a new function for any one part (such as a ligand) can be selected for unless the other members of the system (e.g., a receptor) are already present. Here I show—based on identification and phylogenetic analysis of steroid receptors in basal vertebrates and reconstruction of the sequences and functional attributes of ancestral proteins—that the first steroid receptor was an estrogen receptor, followed by a progesterone receptor. Genome mapping and phylogenetic analyses indicate that the full complement of mammalian steroid receptors evolved from these ancient receptors by two large-scale genome expansions, one before the advent of jawed vertebrates and one after. Specific regulation of physiological processes by androgens and corticoids are relatively recent innovations that emerged after these duplications. These findings support a model of ligand exploitation in which the terminal ligand in a biosynthetic pathway is the first for which a receptor evolves; selection for this hormone also selects for the synthesis of intermediates despite the absence of receptors, and duplicated receptors then evolve affinity for these substances. In this way, novel hormone-receptor pairs are created, and an integrated system of increasing complexity elaborated. This model suggests that ligands for some “orphan” receptors may be found among intermediates in the synthesis of ligands for phylogenetically related receptors.

A demographic approach to selection

The concepts of demography provide a means of combining the ecological approach to population growth with the genetical approach to natural selection. We have utilized the demographic theory of natural selection developed by Norton and Charlesworth to analyze life history schedules of births and deaths for populations of genotypes in Drosophila pseudoobscura. Our populations illustrate a stable genetic equilibrium, an unstable genetic equilibrium, and a case of no equilibrium. We have estimated population growth rates and Darwinian fitnesses of the genotypes and have explored the role of population growth in determining natural selection. The age-specific rates of births and deaths provide insights into components of selection. Both viability and fertility are important components in our populations.

Evolutionary theory of history

Several attempts have been made recently to apply Darwinian evolutionary theory to the study of culture change and social history. The essential elements in such a theory are that variations occur in population, and that a process of selective retention operates during their replication and transmission. Location of such variable units in the semantic structure of cognition provides the individual psychological basis for an evolutionary theory of history. Selection operates on both the level of cognition and on its phenotypic expression in action in relation to individual preferred sources of psychological satisfaction. Social power comprises the principal selective forces within the unintended consequences of action and through the struggle of individuals and groups in pursuit of opposing interests. The implication for historiography are methodological in that evolutionary theory of history sharpens the focus of explanatory situational analysis, and interpretive in that it provides a paradigmatic metanarrative for the understanding of historical change.

Sociobiology in turmoil again

Altruism is defined as any behaviour that lowers the Darwinian fitness of the actor while increasing that of the recipient. Such altruism (especially in the form of lifetime sterility exhibited by sterile workers in eusocial insects such as ants, bees, wasps and termites) has long been considered a major difficulty for the theory of natural selection. In the 1960s W. D. Hamilton potentially solved this problem by defining a new measure of fitness that he called inclusive fitness, which also included the effect of an individual's action on the fitness of genetic relatives. This has come to be known as inclusive fitness theory, Hamilton's rule or kin selection. E. O. Wilson almost single-handedly popularized this new approach in the 1970s and thus helped create a large body of new empirical research and a large community of behavioural ecologists and kin selectionists. Adding thrill and drama to our otherwise sombre lives, Wilson is now leading a frontal attack on Hamilton's approach, claiming that the inclusive fitness theory is not as mathematically general as the standard natural selection theory, has led to no additional biological insights and should therefore be abandoned. The world cannot but sit up and take notice.

Passage du nihilisme biologique au nihilisme moral dans la pensée d'Alex Rosenberg

La biologie évolutionnaire est au cœur des débats contemporains concernant les comportements humains. Les concepts de libre arbitre et de la moralité doivent, par conséquent, être repositionnés par rapport à ce type d’explication. Le consensus actuel concernant le libre arbitre est qu’il se réduit à l’expérience du libre arbitre et que la vraie question est alors d’expliquer comment cette expérience s’inscrit dans le processus darwinien. D’autres, darwiniens, par contre, semblent vouloir offrir une réalité au libre arbitre tout en maintenant un certain déterminisme darwinien. Dans ce mémoire, les arguments d’Alex Rosenberg proposant la position originale d’anti-libre arbitre et d’antidéterminisme seront étudiés. L’étude détaillée du passage du nihilisme biologique vers un nihilisme moral démontré par une position physicaliste et naturaliste, adoptée par Rosenberg, permettra d’illustrer la position anti-libre arbitre et antidéterministe. Pour ce faire, les théories de la deuxième loi de la thermodynamique et de l’évolution par la sélection naturelle seront présentées et analysées afin de démontrer en quoi elles répondent à la position physicaliste et naturaliste d’une part, et d’autre part, comment elles justifient le passage du nihilisme biologique au nihilisme moral selon Rosenberg. Finalement, les arguments et la position d’Alex Rosenberg seront mis en relation avec le domaine de la métaéthique afin d’y déceler une contradiction : le nihilisme moral n’est peut-être pas aussi gentil que Rosenberg l’affirme.

Análise e síntese de antenas e superfícies seletivas de frequência utilizando computação evolucionária e inteligência de enxames

The frequency selective surfaces, or FSS (Frequency Selective Surfaces), are structures consisting of periodic arrays of conductive elements, called patches, which are usually very thin and they are printed on dielectric layers, or by openings perforated on very thin metallic surfaces, for applications in bands of microwave and millimeter waves. These structures are often used in aircraft, missiles, satellites, radomes, antennae reflector, high gain antennas and microwave ovens, for example. The use of these structures has as main objective filter frequency bands that can be broadcast or rejection, depending on the specificity of the required application. In turn, the modern communication systems such as GSM (Global System for Mobile Communications), RFID (Radio Frequency Identification), Bluetooth, Wi-Fi and WiMAX, whose services are highly demanded by society, have required the development of antennas having, as its main features, and low cost profile, and reduced dimensions and weight. In this context, the microstrip antenna is presented as an excellent choice for communications systems today, because (in addition to meeting the requirements mentioned intrinsically) planar structures are easy to manufacture and integration with other components in microwave circuits. Consequently, the analysis and synthesis of these devices mainly, due to the high possibility of shapes, size and frequency of its elements has been carried out by full-wave models, such as the finite element method, the method of moments and finite difference time domain. However, these methods require an accurate despite great computational effort. In this context, computational intelligence (CI) has been used successfully in the design and optimization of microwave planar structures, as an auxiliary tool and very appropriate, given the complexity of the geometry of the antennas and the FSS considered. The computational intelligence is inspired by natural phenomena such as learning, perception and decision, using techniques such as artificial neural networks, fuzzy logic, fractal geometry and evolutionary computation. This work makes a study of application of computational intelligence using meta-heuristics such as genetic algorithms and swarm intelligence optimization of antennas and frequency selective surfaces. Genetic algorithms are computational search methods based on the theory of natural selection proposed by Darwin and genetics used to solve complex problems, eg, problems where the search space grows with the size of the problem. The particle swarm optimization characteristics including the use of intelligence collectively being applied to optimization problems in many areas of research. The main objective of this work is the use of computational intelligence, the analysis and synthesis of antennas and FSS. We considered the structures of a microstrip planar monopole, ring type, and a cross-dipole FSS. We developed algorithms and optimization results obtained for optimized geometries of antennas and FSS considered. To validate results were designed, constructed and measured several prototypes. The measured results showed excellent agreement with the simulated. Moreover, the results obtained in this study were compared to those simulated using a commercial software has been also observed an excellent agreement. Specifically, the efficiency of techniques used were CI evidenced by simulated and measured, aiming at optimizing the bandwidth of an antenna for wideband operation or UWB (Ultra Wideband), using a genetic algorithm and optimizing the bandwidth, by specifying the length of the air gap between two frequency selective surfaces, using an optimization algorithm particle swarm

Construção de estatutos de ciência para a biologia numa perspectiva histórico-filosófica: uma abordagem estruturante para seu ensino

Pós-graduação em Educação para a Ciência - FC

Variance in male reproductive success and sexual size dimorphism in pinnipeds: testing an assumption of sexual selection theory

The theory of evolution by sexual selection for sexual size dimorphism (SSD) postulates that SSD primarily reflects the adaptation of males and females to their different reproductive roles. For example, competition among males for access to females increases male body size because larger males are better able to maintain dominant status than smaller males. Larger dominant males sire most offspring while smaller subordinate males are unsuccessful, leading to skew in reproductive success. Therefore, species with male-biased SSD are predicted to have greater variance in male reproductive success than those in which both sexes are similar in size. We tested this prediction among the Pinnipedia, a mammalian group with a great variation in SSD. From a literature review, we identified genetic estimates of male reproductive success for 10 pinniped taxa (eight unique species and two subspecies of a ninth species) that range from seals with similarly sized males and females to species in which males are more than four times as large as females. We found no support for a positive relationship between variance in reproductive success and SSD among pinnipeds after excluding the elephant seals Mirounga leonina and Mirounga angustirostris, which we discuss as distinctive cases. Several explanations for these results are presented, including the revival of one of Darwin's original ideas. Darwin proposed that natural selection may explain SSD based on differences in energetic requirements between sexes and the potential for sexual niche segregation. Males may develop larger bodies to exploit resources that remain unavailable to females due to the energetic constraints imposed on female mammals by gestation and lactation. The importance of this alternative explanation remains to be tested.

On the moulding of population viscosity by natural selection

In this paper, we explore the conjoint evolution of dispersal and social behaviour. The model investigated is of a population distributed over a number of sites each with a carrying capacity of two adults and an episode of dispersal in the juvenile stage. The fertilities are governed by whether an individual and its neighbour are selfish or co-operative. It is shown that the best dispersal strategy for the co-operative genotype always involves lower levels of dispersal; and further that ecological conditions favouring low levels of dispersal increase the selective advantage of a co-operative genotype. Given this positive feedback, we suggest that in any taxon viscosity and co-operativity will tend to be correlated and bimodally distributed. Hence we predict the existence of two kinds of animal societies; viscous and co-operative (e.g. quasi-social wasps such as Mischocyttarus), and non-viscous and selfish (e.g. communal sphecid wasps such as Cerceris), and relatively few social groups with intermediate levels of co-operativity and viscosity. We also suggest that when one of the two sexes disperses, it will be the sex with lower potential for co-operative behaviour.

Human genetic variation in the Baltic Sea region: Features of population history and natural selection

In this thesis, the genetic variation of human populations from the Baltic Sea region was studied in order to elucidate population history as well as evolutionary adaptation in this region. The study provided novel understanding of how the complex population level processes of migration, genetic drift, and natural selection have shaped genetic variation in North European populations. Results from genome-wide, mitochondrial DNA and Y-chromosomal analyses suggested that the genetic background of the populations of the Baltic Sea region lies predominantly in Continental Europe, which is consistent with earlier studies and archaeological evidence. The late settlement of Fennoscandia after the Ice Age and the subsequent small population size have led to pronounced genetic drift, especially in Finland and Karelia but also in Sweden, evident especially in genome-wide and Y-chromosomal analyses. Consequently, these populations show striking genetic differentiation, as opposed to much more homogeneous pattern of variation in Central European populations. Additionally, the eastern side of the Baltic Sea was observed to have experienced eastern influence in the genome-wide data as well as in mitochondrial DNA and Y-chromosomal variation – consistent with linguistic connections. However, Slavic influence in the Baltic Sea populations appears minor on genetic level. While the genetic diversity of the Finnish population overall was low, genome-wide and Y-chromosomal results showed pronounced regional differences. The genetic distance between Western and Eastern Finland was larger than for many geographically distant population pairs, and provinces also showed genetic differences. This is probably mainly due to the late settlement of Eastern Finland and local isolation, although differences in ancestral migration waves may contribute to this, too. In contrast, mitochondrial DNA and Y-chromosomal analyses of the contemporary Swedish population revealed a much less pronounced population structure and a fusion of the traces of ancient admixture, genetic drift, and recent immigration. Genome-wide datasets also provide a resource for studying the adaptive evolution of human populations. This study revealed tens of loci with strong signs of recent positive selection in Northern Europe. These results provide interesting targets for future research on evolutionary adaptation, and may be important for understanding the background of disease-causing variants in human populations.

The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population

We aimed to study the selective pressures interacting on SLC45A2 to investigate the interplay between selection and susceptibility to disease. Thus, we enrolled 500 volunteers from a geographically limited population (Basques from the North of Spain) and by resequencing the whole coding region and intron 5 of the 34 most and the 34 least pigmented individuals according to the reflectance distribution, we observed that the polymorphism Leu374Phe (L374F, rs16891982) was statistically associated with skin color variability within this sample. In particular, allele 374F was significantly more frequent among the individuals with lighter skin. Further genotyping an independent set of 558 individuals of a geographically wider population with known ancestry in the Spanish population also revealed that the frequency of L374F was significantly correlated with the incident UV radiation intensity. Selection tests suggest that allele 374F is being positively selected in South Europeans, thus indicating that depigmentation is an adaptive process. Interestingly, by genotyping 119 melanoma samples, we show that this variant is also associated with an increased susceptibility to melanoma in our populations. The ultimate driving force for this adaptation is unknown, but it is compatible with the vitamin D hypothesis. This shows that molecular evolution analysis can be used as a useful technology to predict phenotypic and biomedical consequences in humans.

Insight overview: natural selection 150 years on

The theory of evolution by natural selection has prospered in its first 150 years and provides a consistent account of species as highly adapted and rare survivors in the struggle for existence. It now faces the challenge of finding order in the evolution of complex systems, including human society.

The minimum moral content of law : a critique of Hart's descriptive theory of positive and natural law

Review of H.L.A. Hart's account of the minimum moral content of law - assesses its consistency with the methodology provided in his description of the focal meaning or central case of law - particular focus is Hart's consideration of the ultimate end of man - how difficulties faced by Hart's account of the minimum moral content of law can be overcome.