Abstract Genetic engineering opens new possibilities for biomedical enhancement requiring ethical, societal and practical considerations to evaluate its implications for human biology, human evolution and our natural environment. In this Commentary, we consider human enhancement, and in particular, we explore genetic enhancement in an evolutionary context. In summarizing key open questions, we highlight the importance of acknowledging multiple effects (pleiotropy) and complex epigenetic interactions among genotype, phenotype and ecology, and the need to consider the unit of impact not only to the human body but also to human populations and their natural environment (systems biology). We also propose that a practicable distinction between ‘therapy’ and ‘enhancement’ may need to be drawn and effectively implemented in future regulations. Overall, we suggest that it is essential for ethical, philosophical and policy discussions on human enhancement to consider the empirical evidence provided by evolutionary biology, developmental biology and other disciplines. Lay Summary: This Commentary explores genetic enhancement in an evolutionary context. We highlight the multiple effects associated with germline heritable genetic intervention, the need to consider the unit of impact to human populations and their natural environment, and propose that a practicable distinction between ‘therapy’ and ‘enhancement’ is needed.
Nadezhda Bagdasaryan, Vladimir Korenkov, Irina Filozova
The formation of information systems (IS) in the modern sense is associated with the advent of computer tools. It is believed that the first information systems emerged in the 1950s. [1]. Developing rapidly and intensively, they have covered all spheres of human activity and have become very diverse in terms of purpose, types, architectural features, methods of collecting, presenting and processing data. IP has become an integral part of the life of both an individual and society as a whole, significantly transforming modern culture, in which traditional culture and digital technologies are inextricably linked.
This article examines a special type of information systems widely used in the scientific and academic environment - open access repositories of publications, the main purpose of which is to provide accessibility and openness of the intellectual output of society. A look at the history and evolution of these systems helps to understand their place and role in the global social process of informatization of society, to comprehend the information needs of users, the prerequisites and context for the provenance of these needs.
As a kind of land degradation phenomenon, rocky desertification is one of the main ecological problems in karst areas in Southwest China. The key to the effective control of rocky desertification is to explore the distribution law and influence mechanism of rocky desertification. Taking three typical experimental areas in the karst mountainous area of southeast Yunnan as the research subjects, we extracted rocky desertification degrees and slope position factors as variables, and analyzed the correlation mechanism between these two variables. We also explored the roles of terrain factors such as slope gradients, slope aspects, terrain cutting depths, etc. in the correlation mechanism in order to further clarify the distribution law of different degrees of rocky desertification at different slope positions under the natural conditions as well as under the human interference. This study provides support for the case study on distribution and influence mechanism of rocky desertification in karst mountainous areas, and provides scientific basis for monitoring and restoring the regional ecological environment.The results show as follows: (1) The area of rocky desertification decreased gradually from ridge to valley, mainly distributed in the areas in high slope positions. Accordingly, the area of non-rocky desertification increased gradually. Slight rocky desertification mostly occurs along the ridge and on the uphill slope, while moderate rocky desertification mostly occurs at the ridge, and on the uphill and downhill slopes. The heavy rocky desertification is distributed in a uniform way in each slope position. (2) Slope positions are significantly correlated with degrees of rocky desertification, and directly affect the distribution law of rocky desertification. At the same time, the effect of slope positions on rocky desertification is indirectly enhanced by slope gradients and terrain cutting depths. (3) The correlation mechanism between slope positions and degrees of rocky desertification is demonstrated below. If the area is dominated by natural evolution, slope positions are negatively correlated with degrees of rocky desertification. The higher the slope position is, the greater the slope gradient and the deeper the terrain cutting will be. In this case, the increasing frequency of material migration in the area of high slope position will intensify the degree of rocky desertification. Conversely, the lower the slope position is, the smaller the slope gradient and the terrain cutting will be. In this case, human activities will become more convenient and frequent, which may consume the accumulated materials from the high slope position to the low and intensify the rocky desertification.The implications of research findings indicate that the geomorphic structure of the karst area is relatively complex according to the field investigation, and relevant research should be carried out based on the geographical environment of the study area. Most studies on rocky desertification have been conducted at a large or medium scale such as at a scale of the river basin or of the administrative unit, and the driving factors of different research scales have different influences on the degrees of rocky desertification. In addition, degrees of rocky desertification in different slope positions are significantly different. In the natural distribution, materials are lost along the ridge and accumulate in the valley. In rocky desertification areas, soil and other materials are lost along the ridge, and some remain in the valley. Furthermore, rocky desertification degrees are significantly correlated with slope positions, and the internal correlation mechanisms between rocky desertification degrees and slope positions are different under different intensities of human activity. Human interference is also an important factor affecting the correlation between slope positions and rocky desertification degrees. The research results can provide reference for in-depth analysis of the comprehensive influencing mechanism of rocky desertification degrees in karst mountainous areas, and provide basis for rocky desertification control and ecological restoration in mountainous areas.
Teresa M. Coque, Rafael Cantón, Ana Elena Pérez-Cobas
et al.
Antimicrobial resistance (AMR) is one of the Global Health challenges of the 21st century. The inclusion of AMR on the global map parallels the scientific, technological, and organizational progress of the healthcare system and the socioeconomic changes of the last 100 years. Available knowledge about AMR has mostly come from large healthcare institutions in high-income countries and is scattered in studies across various fields, focused on patient safety (infectious diseases), transmission pathways and pathogen reservoirs (molecular epidemiology), the extent of the problem at a population level (public health), their management and cost (health economics), cultural issues (community psychology), and events associated with historical periods (history of science). However, there is little dialogue between the aspects that facilitate the development, spread, and evolution of AMR and various stakeholders (patients, clinicians, public health professionals, scientists, economic sectors, and funding agencies). This study consists of four complementary sections. The first reviews the socioeconomic factors that have contributed to building the current Global Healthcare system, the scientific framework in which AMR has traditionally been approached in such a system, and the novel scientific and organizational challenges of approaching AMR in the fourth globalization scenario. The second discusses the need to reframe AMR in the current public health and global health contexts. Given that the implementation of policies and guidelines are greatly influenced by AMR information from surveillance systems, in the third section, we review the <i>unit of analysis</i> (“the what” and “the who”) and the indicators (the “operational units of surveillance”) used in AMR and discuss the factors that affect the validity, reliability, and comparability of the information to be applied in various healthcare (primary, secondary, and tertiary), demographic, and economic contexts (local, regional, global, and inter-sectorial levels). Finally, we discuss the disparities and similarities between distinct stakeholders’ objectives and the gaps and challenges of combatting AMR at various levels. In summary, this is a comprehensive but not exhaustive revision of the <i>known unknowns</i> about how to analyze the heterogeneities of hosts, microbes, and hospital patches, the role of surrounding ecosystems, and the challenges they represent for surveillance, antimicrobial stewardship, and infection control programs, which are the traditional cornerstones for controlling AMR in human health.
Jacopo Niccolò Cerasoni, Emily Y. Hallett, Eslem Ben Arous
et al.
African paleoanthropological studies typically focus on regions of the continent such as Eastern, Southern and Northern Africa, which hold the highest density of Pleistocene archaeological sites. Nevertheless, lesser known areas such as West Africa also feature a high number of sites. Here, we present a high-resolution map synthesising all well contextualised Pleistocene archaeological sites present in Sub-Saharan West Africa. A detailed elevation and ecoregional map was developed and correlated with palaeoanthropological sites. This map is supplemented with 1,000- and 2000-year interval climate reconstructions over the last 120,000 years for three subregions of high archaeological interest. The presented archaeological sites were compiled by reviewing published literature, and selected based on: (1) documented archaeological stratification or >10 characteristic artefacts, (2) published coordinates, and (3) published chronometric ages or relative dating. The data presented here elucidates the current state of knowledge of Pleistocene West Africa, highlighting the regional potential for human evolutionary studies.
Continuous remote-sensing monitoring of sand in desert areas and the exploration of the spatio–temporal evolution characteristics of soil–wind erosion has an important scientific value for desertification prevention and ecological restoration. In this study, the Kubuqi Desert was selected as the study area, and the Landsat series satellite remote sensing data, supplemented by satellite remote sensing data such as GE images, SPOT-5, ZY-3, GF-1/2/6, etc., integrated object-oriented, decision tree, and auxiliary human–computer interaction interpretation methods, developed the Kubuqi Desert area dataset from 1990 to 2020, and established a soil erosion intensity database of the past 30 years based on the soil–wind erosion correction equation. The results show that the application of the training samples obtained by a high-score collaborative ground sampling to land use/cover classification in desert areas can effectively improve the efficiency of remote-sensing mapping of sand changes and the accuracy of change information identification, and the overall accuracy of the classification results is 95%. In general, the sandy area of the Kubuqi Desert area has decreased year by year, during which the mobile sand in the hinterland of the desert has expanded in a scattered distribution. The overall soil–wind erosion intensity showed a downward trend, especially since 2000; the ecological improvement trend after the implementation of desertification control projects is obvious. Changes in the sand type contributed the most to the reduction of soil–wind erosion intensity (contribution 81.14%), ecological restoration played a key role in reducing the soil–wind erosion intensity (contribution 14.42%), and the increase of forest and grass vegetation covers and agricultural oases played a positive role in solidifying the soil- and wind-proof sand fixation. The pattern of sandy land changes in desert areas is closely related to the national ecological civilization construction policy and the impact of climate change.
Las dos instituciones más relevantes dedicadas a la promoción de las ciencias naturales en el sur de la provincia de Mendoza son el Museo de Historia Natural de San Rafael (MHNSR) (Departamento de San Rafael) y el Museo Regional de Malargüe “Jorge Luna” (MRM) (Departamento de Malargüe). La primera institución fue fundada en el año 1955 mientras que la segunda se erigió en el año 1973 y ambas se incorporaron a la órbita municipal en los primeros años de la década del ‘70 del siglo pasado. Estos museos han tenido un diferente desarrollo y proyección en lo que respecta a su actividad científica. Esto también se reflejó en el desarrollo de la paleoherpotología en el MHNSR con la incorporación de investigadores y becarios del CONICET acontecida a partir del año 2002. En el año 2006 se originó el Centro Regional de Investigación y Desarrollo Cultural, institución que desarrolló actividades paleontológicas en Malargüe principalmente entre los años 2006 y 2015. Con la reciente creación del Instituto de Evolución, Ecología Histórica y Ambiente, unidad ejecutora de doble dependencia CONICET y Universidad Tecnológica Nacional, los paleontólogos continuaron su desempeño en esta unidad sin dejar el MHNSR, donde se alojan las colecciones paleontológicas. En el MRM, las colecciones se encuentran tanto en el antiguo molino del casco de la estancia “La Orteguina”, edificación colindante, y en la sala de exposición de paleontología de dicho museo. Estas instituciones resguardan pequeñas colecciones de reptiles fósiles.
Chemokines, relatively small secreted proteins, are involved in cell migration and function in various biological events, including immunity, morphogenesis, and disease. Due to their nature, chemokines tend to be a target of hijacking of immunity by virus and therefore show an exceptionally high mutation rate. Xenopus laevis is considered an excellent model to investigate the effect of whole-genome duplication for gene family evolution. Because its allotetraploidization occurred around 17–18 million years ago, ancestral subgenomes L and S were well conserved. Based on the gene model of human and diploid frog Xenopus tropicalis, we identified 52 chemokine genes and 26 chemokine receptors in X. laevis. The retention rate of the gene in the X. laevis L and S subgenomes was 96% (45/47) and 68% (32/47), respectively. We conducted molecular phylogenetic analysis and found clear orthologies in all receptor genes but not in the ligand genes, suggesting rapid divergences of the ligand. dN/dS calculation demonstrated that dN/dS ratio greater than one was observed in the four ligand genes, cxcl8b.1.S, cxcl18.S, ccl21.S, and xcl1.L, but nothing in receptor genes. These results revealed that the whole-genome duplication promotes diversification of chemokine ligands in X. laevis while conserving the genes necessary for homeostasis, suggesting that selective pressure also supports a rapid divergence of the chemokines in amphibians.
Markus Pfenninger, Friederike Reuss, Angelika Kiebler
et al.
In the course of global climate change, Central Europe is experiencing more frequent and prolonged periods of drought. The drought years 2018 and 2019 affected European beeches (Fagus sylvatica L.) differently: even in the same stand, drought-damaged trees neighboured healthy trees, suggesting that the genotype rather than the environment was responsible for this conspicuous pattern. We used this natural experiment to study the genomic basis of drought resistance with Pool-GWAS. Contrasting the extreme phenotypes identified 106 significantly associated single-nucleotide polymorphisms (SNPs) throughout the genome. Most annotated genes with associated SNPs (>70%) were previously implicated in the drought reaction of plants. Non-synonymous substitutions led either to a functional amino acid exchange or premature termination. A non-parametric machine learning approach on 98 validation samples yielded 20 informative loci which allowed an 88% prediction probability of the drought phenotype. Drought resistance in European beech is a moderately polygenic trait that should respond well to natural selection, selective management, and breeding.
Objective: Modern medicine needs to shift from a wait and react, curative discipline to a preventative, interdisciplinary science aiming at providing personalized, systemic, and precise treatment plans to patients. To this purpose, we propose a “digital twin” of patients modeling the human body as a whole and providing a panoramic view over individuals' conditions.Methods: We propose a general framework that composes advanced artificial intelligence (AI) approaches and integrates mathematical modeling in order to provide a panoramic view over current and future pathophysiological conditions. Our modular architecture is based on a graph neural network (GNN) forecasting clinically relevant endpoints (such as blood pressure) and a generative adversarial network (GAN) providing a proof of concept of transcriptomic integrability.Results: We tested our digital twin model on two simulated clinical case studies combining information at organ, tissue, and cellular level. We provided a panoramic overview over current and future patient's conditions by monitoring and forecasting clinically relevant endpoints representing the evolution of patient's vital parameters using the GNN model. We showed how to use the GAN to generate multi-tissue expression data for blood and lung to find associations between cytokines conditioned on the expression of genes in the renin–angiotensin pathway. Our approach was to detect inflammatory cytokines, which are known to have effects on blood pressure and have previously been associated with SARS-CoV-2 infection (e.g., CXCR6, XCL1, and others).Significance: The graph representation of a computational patient has potential to solve important technological challenges in integrating multiscale computational modeling with AI. We believe that this work represents a step forward toward next-generation devices for precision and predictive medicine.