Characteristics of Human Adaptation in the High Altitude of Central Asia and the Antarctic

The study involved healthy males that were not subject to prior training for resistance to hypoxia. Parameters of cardiac hemodynamics and vital lung capacity and red blood cell parameters were measured on days 35–40 of adaptation to altitudes of 3488–4000 m above sea level in the Pamir and Tien Shan mountains, as well as at the Vostok station, which is the remotest inhabited locality on earth, situated on the ice cover of the Antarctic. We were able to demonstrate that distinct functional and adaptation-related profiles developed at altitudes producing similar levels of hypoxia, but differing in the aggregate effect exerted by extreme natural and climatic factors. Of note, the functional reserves of the human organism measured after 5 weeks of adaptation were significantly lower for the high altitude of the Antarctic than for similar altitudes in Central Asia.     

High Altitude Adaptation in Mammals

The physiological, morphological, and biochemical characteristicsof several species of mammals resident at high altitude arecompared with those of their sea level counterparts. The differencesnoted in these characteristics are in a direction that facilitatesthe acclimatization of those living at high altitude. The differencesamong species point to the fact that the mechanism of adaptationto altitude (i.e., hypoxia) is still not understood. This reviewemphasizes that the adaptive process is complex and made upof several components, that these components are inter-related,and that neither the physiological nor morphological adaptationscan fully account for the tolerance to hypoxia. Although onlysuperficially studied as yet, the biochemical adaptations appearmost important.     

Adaptation of the Avian Egg to High Altitude

Theoretical predictions and experiments on eggs of domesticatedbirds indicate that the diffusion coefficient of gases is inverselyproportional to barometric pressure. Therefore potentially lethallosses of CO₂ and water vapor from eggs laid at high altitudemight result if the increased tendency of gases to diffuse atreduced barometric pressure were not counteracted in some manner.Limited data from two wild populations indicate that water lossfrom eggs is independent of altitude over a 3000 m elevationalgradient. Four different possibilities are discussed by whichcompensation for increased diffusion of water vapor might beachieved at high elevations 1) a reduction in eggshell conductance(GH₂O) 2) an increase in the initial water content of the eggs3) an increase in shell thickness, and 4) alteration of watervapor pressure in the nest microenvironment or incubation temperatureby variation in parental behavior. Mean GH₂O of eggs of twoprecocial and four altricial species breeding above 2800 m issignificantly reduced below values of related birds breedingat lower elevations, but no change in initial water contentor shell thickness has been observed in such eggs. Observationsof parental behavior in species breeding over wide elevationalgradients have not yet been made. Identification of the mechanismsby which eggshell structure is modified to achieve a reducedGH₂O the environmental cues used by females to determine theelevation of the breeding location and the rapidity with whichshell structuie can be modified awaits further research.     

地山雀血红蛋白高原低氧适应的分子机制

血红蛋白(hemoglobin,Hb)作为血液循环系统中氧气运输的主要载体,在动物高原低氧适应中发挥关键作用.本文结合基因组、转录物组、分子进化、同源建模和分子动力学计算等分析,探索了高原土著鸟类地山雀血氧亲和力升高的分子机制.结果表明,与大山雀相比(RPKM为0),胚胎特异表达ρ基因在地山雀成体肝中表达较高(RPKM...     

Adaptation of the Long-Lived Monocarpic Perennial Saxifraga longifolia to High Altitude

Global change is exerting a major effect on plant communities, altering their potential capacity for adaptation. Here, we aimed at unveiling mechanisms of adaptation to high altitude in an endemic long-lived monocarpic, Saxifraga longifolia, by combining demographic and physiological approaches. Plants from three altitudes (570, 1100, and 2100 m above sea level [a.s.l.]) were investigated in terms of leaf water and pigment contents, and activation of stress defense mechanisms. The influence of plant size on physiological performance and mortality was also investigated. Levels of photoprotective molecules (α-tocopherol, carotenoids, and anthocyanins) increased in response to high altitude (1100 relative to 570 m a.s.l.), which was paralleled by reduced soil and leaf water contents and increased ABA levels. The more demanding effect of high altitude on photoprotection was, however, partly abolished at very high altitudes (2100 m a.s.l.) due to improved soil water contents, with the exception of α-tocopherol accumulation. α-Tocopherol levels increased progressively at increasing altitudes, which paralleled with reductions in lipid peroxidation, thus suggesting plants from the highest altitude effectively withstood high light stress. Furthermore, mortality of juveniles was highest at the intermediate population, suggesting that drought stress was the main environmental driver of mortality of juveniles in this rocky plant species. Population structure and vital rates in the high population evidenced lower recruitment and mortality in juveniles, activation of clonal growth, and absence of plant size-dependent mortality. We conclude that, despite S. longifolia has evolved complex mechanisms of adaptation to altitude at the cellular, whole-plant and population levels, drought events may drive increased mortality in the framework of global change.European mountains shelter a huge biodiversity and are home to many endemic plants and animals, i.e. species that occur nowhere else. Global change, and particularly climatic change, is expected to exert a major effect on mountain plant communities, altering their potential capacity for adaptation (Peñuelas and Boada, 2003; Franklin et al., 2016). Under such a scenario of environmental change, populations of organisms must either escape or get quickly adapted, otherwise they go extinct. For instance, certain butterfly species have been migrating north, or to higher altitudes, to escape rising temperatures (Breed et al., 2013). Plants, of course, cannot migrate as fast as animals, and important shifts have already been found among plant communities inhabiting mountain summits (Gottfried et al., 2012). When global air temperatures increase, the number of cooler habitats will shrink, producing a crowding effect and increased competition among some species in the remaining cooler areas; at the same time, however, other habitat types will increase in abundance (Scherrer and Körner, 2011). Alpine habitats could prove more attractive to plant species than lowlands because of their topography providing favorable microhabitats. However, certain rare species may lose out in the long-term competition for space, especially those favoring cooler climates (Körner, 2013).Leaves of high-mountain plants are highly resistant to photoinhibitory damage. Tocochromanols (particularly tocopherols and plastochromanol-8) are found in thylakoids and play an antioxidant function in protecting lipids from the propagation of lipid peroxidation in chloroplasts. Together with carotenoids, they also prevent PSII damage as a result of singlet oxygen attack (Munné-Bosch and Alegre, 2002; Falk and Munné-Bosch, 2010; Zbierzak et al., 2009; Kruk et al., 2014). A higher tocochromanol content, particularly of α-tocopherol, and an increased capacity for nonradiative dissipation of excitation energy by activation of the xanthophyll cycle have been found in high-mountain plants, thus supporting such a role (Streb et al., 1997, 1998, 2003a, 2003b; García-Plazaola et al., 2015). Furthermore, although the number of studies is still very limited for plants in their natural habitat, high-mountain plants tend to accumulate large amounts of ABA (Bano et al., 2009), a phytohormone that is known to mediate the acclimation/adaptation of plants to temperature extremes by modulating the up- and down-regulation of numerous genes (Gilmour and Thomashow, 1991). The activation of other chemical defenses, such as the accumulation of salicylates and jasmonates, which serve against biotrophs and necrotrophs, can also be affected by extreme temperatures (Kosova et al., 2012; Dong et al., 2014; Miura and Tada, 2014), but it has not been investigated thus far in high-mountain plants.Some degree of plasticity in physiological traits is ubiquitous among plants so that environmental growth conditions are generally considered essential factors governing the physiological performance of plants and their organs (Larcher, 1994). A number of recent studies with trees, shrubs, and herbs, including vascular epiphytes (Mencuccini and Grace 1996; Zotz, 1997; Schmidt et al., 2001; Schmidt and Zotz, 2001; Munné-Bosch and Lalueza, 2007; Morales et al., 2014), point out, however, to another source of intraspecific variation that many studies in the past have inadvertently missed, i.e. substantial variation in physiological traits related to plant size rather than changing environmental conditions (Zotz et al., 2001). In trees, increased plant size leads to increased hydraulic resistance causing reductions in relative leaf growth rates (Mencuccini and Grace, 1996). Furthermore, photo-oxidative stress has been shown to increase during periods of low precipitation combined with high light in the Mediterranean shrub Cistus clusii as a function of plant size, therefore suggesting an increased vulnerability to photo-oxidative stress in the largest individuals (Munné-Bosch and Lalueza, 2007). To our knowledge, no studies are however available to unveil the possible influence of plant size on photoprotection and activation of chemical defenses in high-mountain plants.Saxifraga longifolia Lapeyruse (Saxiragaceae) is an endemic species of the western Mediterranean mountains, ranging from the Pyrenees (plus a couple of populations in the Cantabric Mountains) through eastern Spain to reach its southern limit in the high Atlas of Morocco (Webb and Gornall, 1989). This long-lived monocarpic plant develops a basal rosette growing in limestone rocky places, mainly on cliffs, offering a unique sight in years of intensive blooming. Reproduction occurs when plants are at least 6 years old in greenhouse conditions (Webb and Gornall, 1989), and it is thought to be much later in natural conditions. This orophyte plant shows striking variation in plant size, with a diameter of the rosette up to 30 cm in the largest individuals. It has been shown that flower and seed production increase as a function of plant size, with female success being maximum in intermediate sized plants (García, 2003).In the current study, with the aim of getting new insights into the mechanisms of adaptation to high altitudes and the influence of plant size on this adaptation capacity, we examined the physiological response of S. longifolia growing at three contrasted populations spanning its whole altitudinal range. We described population structure, calculated mortality rates, and analyzed physiological performance, including water contents and activation of photoprotection mechanisms and chemical defenses. We aimed at understanding the effect of varying altitude on the expression of defense mechanisms that govern adaptive processes in high-mountain plants.     

A Novel Candidate Region for Genetic Adaptation to High Altitude in Andean Populations

Humans living at high altitude (≥2,500 meters above sea level) have acquired unique abilities to survive the associated extreme environmental conditions, including hypoxia, cold temperature, limited food availability and high levels of free radicals and oxidants. Long-term inhabitants of the most elevated regions of the world have undergone extensive physiological and/or genetic changes, particularly in the regulation of respiration and circulation, when compared to lowland populations. Genome scans have identified candidate genes involved in altitude adaption in the Tibetan Plateau and the Ethiopian highlands, in contrast to populations from the Andes, which have not been as intensively investigated. In the present study, we focused on three indigenous populations from Bolivia: two groups of Andean natives, Aymara and Quechua, and the low-altitude control group of Guarani from the Gran Chaco lowlands. Using pooled samples, we identified a number of SNPs exhibiting large allele frequency differences over 900,000 genotyped SNPs. A region in chromosome 10 (within the cytogenetic bands q22.3 and q23.1) was significantly differentiated between highland and lowland groups. We resequenced ~1.5 Mb surrounding the candidate region and identified strong signals of positive selection in the highland populations. A composite of multiple signals like test localized the signal to FAM213A and a related enhancer; the product of this gene acts as an antioxidant to lower oxidative stress and may help to maintain bone mass. The results suggest that positive selection on the enhancer might increase the expression of this antioxidant, and thereby prevent oxidative damage. In addition, the most significant signal in a relative extended haplotype homozygosity analysis was localized to the SFTPD gene, which encodes a surfactant pulmonary-associated protein involved in normal respiration and innate host defense. Our study thus identifies two novel candidate genes and associated pathways that may be involved in high-altitude adaptation in Andean populations.     

基于线粒体基因组的藏马高原适应及系统发育分析

研究测定了西藏那曲（4,500m）、云南中甸（3,300m）、云南德钦（3,300m）地区3匹藏马线粒体全基因组序列。3个地区的藏马线粒体基因组全长以及结构均与韩国济州岛的马类似,但比瑞典马线粒体基因组短。藏马基因组在DNA序列上的两两相似性达993％。通过对线粒体蛋白编码区的分析发现,NADH6基因的蛋白序列在三匹藏马中均表现快速进化的现象。这表明NADH6基因在藏马高原适应进化过程中扮演着重要角色。此外,利用7匹藏马的D—loop区域序列以及与其亲缘关系较近的马的序列首次构建的藏马的系统发育树显示,那曲藏马与中甸、德钦藏马属于不同的分支,且存在较大的遗传多样性,表明藏马可能为多地区起源。     

藏族的高原适应——西藏藏族生物人类学研究回顾

藏族生活在具有世界屋脊之称的青藏高原, 特殊的生态环境和特殊的文化背景造就了藏族特殊的适应高原缺氧机制, 引起了国内外学者的广泛关注和浓厚的研究兴趣。本文根据国内外数据库的文献并结合我们的研究工作, 从高原适应的角度回顾了30多年藏族人类学研究。回顾显示, 藏族由于长期生活在高原缺氧的环境中, 不仅形态和机能发生了适应性变化, 而且体成分也表现出相应的变化, 体现了形态、机能和体成分的统一。这些变化是长期进化形成的, 与安第斯山人等有明显不同, 就是在同一高原生活的西藏、青海、四川、甘肃和云南的藏族乃至尼泊尔和印度藏族的体质也表现出地域差异, 这些差异的产生是多种因素所致, 两个关键性的基因是导致两大高原人口高原适应机制不同的最主要的原因。     

Independent Molecular Basis of Convergent Highland Adaptation in Maize

Convergent evolution is the independent evolution of similar traits in different species or lineages of the same species; this often is a result of adaptation to similar environments, a process referred to as convergent adaptation. We investigate here the molecular basis of convergent adaptation in maize to highland climates in Mesoamerica and South America, using genome-wide SNP data. Taking advantage of archaeological data on the arrival of maize to the highlands, we infer demographic models for both populations, identifying evidence of a strong bottleneck and rapid expansion in South America. We use these models to then identify loci showing an excess of differentiation as a means of identifying putative targets of natural selection and compare our results to expectations from recently developed theory on convergent adaptation. Consistent with predictions across a wide parameter space, we see limited evidence for convergent evolution at the nucleotide level in spite of strong similarities in overall phenotypes. Instead, we show that selection appears to have predominantly acted on standing genetic variation and that introgression from wild teosinte populations appears to have played a role in highland adaptation in Mexican maize.     

急性轻中度缺氧EEG信号的复杂度研究

建立了一个急性高空缺氧实验模型,记录了四种不同高度条件下从缺氧前(正常呼吸)到缺氧后30分钟时的EEG,分析了其复杂度。发现缺氧引起复杂度明显变化,随时间和高度增加,一定程度缺氧可使EEG复杂度低于正常。表明EEG复杂度对脑缺氧较为敏感,可用于缺氧程度进行评估,有望成为临床诊断的一个指标。     

Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia

Tropical indigenous peoples in Asia (TIA) attract much attention for their unique appearance, whereas their genetic history and adaptive evolution remain mysteries. We conducted a comprehensive study to characterize the genetic distinction and connection of broad geographical TIAs. Despite the diverse genetic makeup and large interarea genetic differentiation between the TIA groups, we identified a basal Asian ancestry (bASN) specifically shared by these populations. The bASN ancestry was relatively enriched in ancient Asian human genomes dated as early as ∼50,000 years before the present and diminished in more recent history. Notably, the bASN ancestry is unlikely to be derived from archaic hominins. Instead, we suggest it may be better modeled as a survived lineage of the initial peopling of Asia. Shared adaptations inherited from the ancient Asian ancestry were detected among the TIA groups (e.g., LIMS1 for hair morphology, and COL24A1 for bone formation), and they are enriched in neurological functions either at an identical locus (e.g., NKAIN3), or different loci in an identical gene (e.g., TENM4). The bASN ancestry could also have formed the substrate of the genetic architecture of the dark pigmentation observed in the TIA peoples. We hypothesize that phenotypic convergence of the dark pigmentation in TIAs could have resulted from parallel (e.g., DDB1/DAK) or genetic convergence driven by admixture (e.g., MTHFD1 and RAD18), new mutations (e.g., STK11), or notably purifying selection (e.g., MC1R). Our results provide new insights into the initial peopling of Asia and an advanced understanding of the phenotypic convergence of the TIA peoples.     

A Rapid,Strong, and Convergent Genetic Response to Urban Habitat Fragmentation in Four Divergent and Widespread Vertebrates

Background

Urbanization is a major cause of habitat fragmentation worldwide. Ecological and conservation theory predicts many potential impacts of habitat fragmentation on natural populations, including genetic impacts. Habitat fragmentation by urbanization causes populations of animals and plants to be isolated in patches of suitable habitat that are surrounded by non-native vegetation or severely altered vegetation, asphalt, concrete, and human structures. This can lead to genetic divergence between patches and in turn to decreased genetic diversity within patches through genetic drift and inbreeding.

Methodology/Principal Findings

We examined population genetic patterns using microsatellites in four common vertebrate species, three lizards and one bird, in highly fragmented urban southern California. Despite significant phylogenetic, ecological, and mobility differences between these species, all four showed similar and significant reductions in gene flow over relatively short geographic and temporal scales. For all four species, the greatest genetic divergence was found where development was oldest and most intensive. All four animals also showed significant reduction in gene flow associated with intervening roads and freeways, the degree of patch isolation, and the time since isolation.

Conclusions/Significance

Despite wide acceptance of the idea in principle, evidence of significant population genetic changes associated with fragmentation at small spatial and temporal scales has been rare, even in smaller terrestrial vertebrates, and especially for birds. Given the striking pattern of similar and rapid effects across four common and widespread species, including a volant bird, intense urbanization may represent the most severe form of fragmentation, with minimal effective movement through the urban matrix.     

Molecular Parallelism Underlies Convergent Highland Adaptation of Maize Landraces

Convergent phenotypic evolution provides some of the strongest evidence for adaptation. However, the extent to which recurrent phenotypic adaptation has arisen via parallelism at the molecular level remains unresolved, as does the evolutionary origin of alleles underlying such adaptation. Here, we investigate genetic mechanisms of convergent highland adaptation in maize landrace populations and evaluate the genetic sources of recurrently selected alleles. Population branch excess statistics reveal substantial evidence of parallel adaptation at the level of individual single-nucleotide polymorphism (SNPs), genes, and pathways in four independent highland maize populations. The majority of convergently selected SNPs originated via migration from a single population, most likely in the Mesoamerican highlands, while standing variation introduced by ancient gene flow was also a contributor. Polygenic adaptation analyses of quantitative traits reveal that alleles affecting flowering time are significantly associated with elevation, indicating the flowering time pathway was targeted by highland adaptation. In addition, repeatedly selected genes were significantly enriched in the flowering time pathway, indicating their significance in adapting to highland conditions. Overall, our study system represents a promising model to study convergent evolution in plants with potential applications to crop adaptation across environmental gradients.     

Widespread Occurrence of Bd in French Guiana,South America

The amphibian chytrid fungus Batrachochytrium dendrobatidis (Bd) is a purported agent of decline and extinction of many amphibian populations worldwide. Its occurrence remains poorly documented in many tropical regions, including the Guiana Shield, despite the area’s high amphibian diversity. We conducted a comprehensive assessment of Bd in French Guiana in order to (1) determine its geographical distribution, (2) test variation of Bd prevalence among species in French Guiana and compare it to earlier reported values in other South American anuran species (http://www.bd-maps.net; 123 species from 15 genera) to define sentinel species for future work, (3) track changes in prevalence through time and (4) determine if Bd presence had a negative effect on one selected species. We tested the presence of Bd in 14 species at 11 sites for a total of 1053 samples (306 in 2009 and 747 in 2012). At least one Bd-positive individual was found at eight out of 11 sites, suggesting a wide distribution of Bd in French Guiana. The pathogen was not uniformly distributed among the studied amphibian hosts, with Dendrobatidae species displaying the highest prevalence (12.4%) as compared to Bufonidae (2.6 %) and Hylidae (1.5%). In contrast to earlier reported values, we found highest prevalence for three Dendrobatidae species and two of them displayed an increase in Bd prevalence from 2009 to 2012. Those three species might be the sentinel species of choice for French Guiana. For Dendrobates tinctorius, of key conservation value in the Guiana Shield, smaller female individuals were more likely to be infected, suggesting either that frogs can outgrow their chytrid infections or that the disease induces developmental stress limiting growth. Generally, our study supports the idea that Bd is more widespread than previously thought and occurs at remote places in the lowland forest of the Guiana shield.     

Convergent Adaptation of Ootheca Formation as a Reproductive Strategy in Polyneoptera

Insects have evolved numerous adaptations and colonized diverse terrestrial environments. Several polyneopterans, including dictyopterans (cockroaches and mantids) and locusts, have developed oothecae, but little is known about the molecular mechanism, physiological function, and evolutionary significance of ootheca formation. Here, we demonstrate that the cockroach asymmetric colleterial glands produce vitellogenins, proline-rich protein, and glycine-rich protein as major ootheca structural proteins (OSPs) that undergo sclerotization and melanization for ootheca formation through the cooperative protocatechuic acid pathway and dopachrome and dopaminechrome subpathway. Functionally, OSP sclerotization and melanization prevent eggs from losing water at warm and dry conditions, and thus effectively maintain embryo viability. Dictyopterans and locusts convergently evolved vitellogenins, apolipoprotein D, and laminins as OSPs, whereas within Dictyoptera, cockroaches and mantids independently developed glycine-rich protein and fibroins as OSPs. Highlighting the ecological-evolutionary importance, convergent ootheca formation represents a successful reproductive strategy in Polyneoptera that promoted the radiation and establishment of cockroaches, mantids, and locusts.