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At least 19 recordsLinked to original sources
PubMed1976

[Altitude adaptation. Part II. Altitude adaptation as a problem of human biology. I. Growth)].

There are 3 main components influencing the mean stature of high altitude natives. The lower mean birthweight, which seems to result from the impossibility of complete adaptation during the last trimenon of gestation, which cannot be fully compensated during life. The general protein deficiency, or the habits of nutrition which are not comparable with the food-composition in industry-nations may be important. A definitive undernourishment has not been observed in those nations with longtime adaptation to the available food since generations, but several deficiencies of substances which specially influence growth, cannot be outruled. We also have to recognize the generally lower mean stature of the population in whole (South America Indians), that means of the both parents of a child. In the presence of low gene flow from one to the other generation this may influence also individual body measurement.

Acclimatization↗
PubMed1976

[Altitude adaptation. Part III. Altitude acclimatization as a problem of human biology (II. Morphology, physiology, biochemistry)].

The physiological mechanisms of adaptation will be reported. In a primary step of adaptation, the body reacts with immediate response, which already leads to a first classification: whether or not altitude will be tolerated by an individual. More steady biological processes follow with the same intention of balancing oxygen deficiency. They may be successful and acclimatization is possible, or they do not achieve the necessary level, i.e. that consequently developing pathological conditions of different severity lead to a next assortation of individuals with insufficient adaptability. The first state of lability can be compensated, or the intolerance will make a further stay in high altitudes impossible. No parameters exist which could allow a prognosis as to what kind of individuals will tolerate altitude or not. A different pattern of biological reaction is seen in permanent inhabitants of high altitudes who have been residing there for generations and haven't experienced conditions other than those of their special altitude in their individual lives. While ascending to higher altitudes, permanent residents also have to undergo new adaptation, as well as when descending to lower altitudes. Returning to their native environment requires reacclimatization. The mechanisms of adaptation on the organ level will be reviewed, as well as on the fluid and cellular level. All those functional and morphological mechanisms of adaptation to oxygen deficiency in high altitudes tend to maintain optimal equilibrium. Maladaptation may result. Expected genetically determined physiological alterations of adaptational value in permanent residents, which could have manifested themselves by way of "soft" selection and change of gene frequency in those high altitude populations, will be discussed. Genetical determination in such physiological parameters does not seem probable, although some pecularities such as the "blunted response" ventilation, the higher Bohr-Effect in Quenchua etc. might be interpreted in this direction.

Acclimatization↗
PubMed2025

Integrative Genomic, Transcriptomic and Epigenomic Analysis Reveals cis-regulatory Contributions to High-altitude Adaptation in Tibetan Pigs.

The Qinghai-Tibet Plateau, characterized by its extreme environmental conditions, presents significant challenges to life, making it an ideal region for studying adaptation and evolution. Tibetan pigs, known for their high genetic diversity and exceptional adaptability to high altitudes, serve as excellent models for investigating high-altitude adaptation. While previous studies have extensively identified genetic determinants associated with high-altitude adaptation, the molecular mechanisms, particularly cis-regulatory patterns, remain poorly understood. Here, we conducted a selective sweep analysis using 484 genomes from Chinese and Western pig breeds across various altitudes, revealing 38.56 Mb of genomic regions under selection in Tibetan pigs. Enrichment analysis identified the lung as the primary functional tissue involved in high-altitude adaptation, supported by tissue-specific transcriptional and regulatory patterns observed between Tibetan and Meishan pigs (low altitude). By integrating genomic, RNA-seq, ATAC-seq, and H3K27ac HiChIP data, we constructed comprehensive enhancer-promoter regulatory maps of candidate genes and pinpointed promising genetic determinants associated with high-altitude adaptation, including SNPs in EPAS1, KLF13, SPRED1, and CFD. These loci were predicted to influence chromatin accessibility and the interactions of regulatory elements, with altered binding strength of relevant transcription factors. Further in vitro experiments confirmed that these loci function as allele-specific enhancers, modulating the expression of target genes. Our findings elucidate the regulatory basis of high-altitude adaptation in Tibetan pigs and provide valuable insights for exploring hypoxia-related diseases in livestock and humans.

Animals↗
PubMedDate not supplied

[Decrease in the radiation effect in the lymphoid organs of animals adapting to altitude].

Adaptation to altitude hypoxia exerts a positive effect on the cell density of lymph organs of gamma-irradiated animals. It also reduces radiation degradation of DNA, its availability to DNase in the nuclear chromatin and disorders in the activity of DNA polymerases. The role of inhibition of radiation-induced degradation of chromatin DNA in the protective effect of altitude adaptation on the cell density of lymph organs is discussed.

Adaptation, Physiological↗
PubMed2026

Integrative Genomic and Transcriptomic Insights into High-Altitude Adaptation in Changthangi Goats.

The Changthangi goat, native to the high-altitude Ladakh Plateau in northern India, thrives in oxygen-deficient environments above 4,000 m. This study investigated the genetic basis of high-altitude adaptation in Changthangi goats by integrating comparative genomics and transcriptomics, using the tropical lowland Jamunapari goat as a comparative model. Whole-genome sequence data from 15 individuals per breed were analyzed using complementary selection sweep metrics, including nucleotide diversity, Tajima's D, iHS, CLR, XP-EHH, and FST. These analyses identified candidate genomic regions under strong selective pressure, encompassing genes involved in hypoxia sensing (HIF-1α, HIF-2α/EPAS1, EGLN1), angiogenesis (VEGFA, AGGF1, ZEB1), cardiovascular regulation (PRKCB, ESR1, RYR2), mitochondrial and energy metabolism (ACADSB, ACSS3, ACSL1), cellular stress tolerance (BCL2, ATM), and thermogenesis (UCP1, FGF21). Unlike previous caprine studies that primarily infer hypoxia adaptation from genomic signals alone, our study integrates cardiac transcriptomics to demonstrate that genomic selection in Changthangi goats is accompanied by coordinated transcriptional remodeling across interconnected physiological systems in a physiologically relevant tissue. Comparative cardiac transcriptomic profiling revealed concordant expression divergence in genes associated with oxygen transport, vascular remodeling, mitochondrial function, substrate utilization, redox balance, and genome maintenance. This integrative multi-omics framework provides a mechanistic view of caprine high-altitude adaptation and highlights the value of combining genomic selection analyses with tissue-specific transcriptional profiling to resolve complex adaptive traits.

Animals↗
PubMed1992

Muscle enzymatic composition and metabolic regulation in high altitude adapted natives.

Quechuas and Sherpas have long attracted the interest of high altitude biology and medicine. From our current knowledge, it appears that three of their most impressive high altitude adaptations are (i) high efficiency performance even in hypobaric hypoxia, (ii) low maximum (aerobic and anaerobic) capacities, and (iii) high endurance (the latter being less well documented, but widely accepted). Muscle biopsy and enzyme activity measurements clarify the basis for at least some of these adaptations. Firstly, low activity levels of enzymes in oxidative metabolism (comparable to power athletes) predict low VO2max capacities, as previously observed. Secondly, anaerobic glycolytic capacities also are low (comparable to endurance athletes) which explains low anaerobic work capacities. Thirdly, the glycolytic pathway is seemingly organized for carbohydrate oxidation, not fermentation. Because glucose (glycogen) metabolism uses O2 efficiently, the endurance characteristic may arise from coupling carbohydrate-based adenosine triphosphate (ATP) synthesis with efficient pathways of ATP utilization (for high yield of muscle work/ATP).

Adaptation, Physiological↗
PubMed1976

[Altitude adaptation. Biological problems in the context of the environment].

The following part of the description of adaptation to high altitude describes the geographical specifities of the relevant regions of the world. There are several factors which require an adaptive answer, such as hypoxia, temperature, terrain, nutrition etc. The terms of genetically determined and of individual adaptation are discussed, with special consideration of a duration of settlement in the main altitude regions of about ten thousand years, as well as the principles of adaptation in general, including the phenomenon of maladaptation. The problem of adaptation of animals to high altitude is reviewed in short especially in regard to mammals. The differential fertility proves to be most important in the survival of a species in high altitude as well as the individual adaptability, is the fitness which makes high altitude tolerable to newcomers.

Acclimatization↗
PubMed1976

[Altitude adaptation. IV. Fertility and reproduction at high altitudes].

High altitude populations have been reproducing for thousands of years. The mean total fertility is comparable to the respective mean values of the whole populations or is even higher. On the other hand, newcomers from sea level seem to have difficulties reproducing in high altitude, especially if they are caucasian. Cattle and other animals fail to reproduce to some extent (due to degeneration of the testes, asoospermia, abortation etc.), which can only be avoided after crossbreeding with aclimatized strains in several generations. But successful gestation in altitudes above 3000 metres is different from sea level gestation in several aspects, which may be important for the survival of mother and child, thus leaving open the question of selective pressure. The mean birth weight of man and animals is reduced, while the mean palcental weight is greater (relatively and absolutely) due to enlargement of the capillary volume. Placenta proves to be on higher risk for developing infarcts (the more in number and extetion, the greater the caucasian admixture). Due to the tendency to a greater extention of the surface, the rate of placenta praevia is extremely high (27%). The lower birth weight corresponds to a higher neonatal mortality, progressing with increasing altitude. Additional to the high altitude stress including the factors to which the newborn are exposed, such as cold, nuturtional deficiencies etc., particular socio-economic conditions influence the differential mortality. In the Bolivian mining-areas, mortality during the first year of life rises to 50%. Only high fertility rates compensate this loss so that high altitude population growth rates do not vary with the altitude.

Acclimatization↗
PubMed2026

Identifying causal genetic variants for high-altitude adaptation through blood eQTL analysis in plateau populations.

A substantial number of genetic variants have been associated with high-altitude adaptation (HAA), yet most of them are located in non-coding genomic regions, leaving their specific functions and underlying mechanisms largely unknown. In this study, we analyze whole-genome and transcriptome sequencing data from a self-established cohort comprising 61 native highlanders (NHs) and 164 acclimatized newcomers (ANs), identifying 6,586 cis- and 34,203 trans-expression quantitative trait loci (eQTLs), along with 130 cell type-specific eQTLs. By further combining these data with a large East Asia (~30% Tibetan) genome-wide association study (GWAS) cohort, we employ colocalization and causal inference analyses to prioritize 85 cis-eQTLs associated with HAA and identify several novel candidate causal genes, including EXOC8, which is experimentally confirmed to regulate erythroid differentiation. Additionally, network analysis of these causal genes uncovers multiple regulatory pathways, mainly involving energy metabolism, autophagy, ubiquitination and inflammation. Our study offers a comprehensive eQTL map and reveals causal chains of "variant-gene-phenotype" for HAA-related traits, which provides new insights into potential regulatory mechanisms and targets for prevention and treatment of altitude sickness.

Quantitative Trait Loci↗
PubMed2026

Comparative analysis of olfactory receptor repertoires reveals evolutionary dynamics and high-altitude adaptation in Schizopygopsis younghusbandi based on the chromosome-level genomes.

The olfactory receptor (OR) gene represent a significant multigene family in vertebrates, forming the core molecular basis of olfactory perception and playing a crucial role in the environmental adaptation of species. High-altitude ecosystems represent extreme habitats characterized by specific abiotic stresses, including low oxygen levels, low temperatures, and intense ultraviolet radiation. These environments also exhibit low aquatic biodiversity and a limited variety of odor molecules, factors that have influenced the adaptive evolution of the sensory systems in endemic species. However, the genetic mechanisms underlying olfactory adaptation in high-altitude freshwater fish remained inadequately understood. In this study, we performed comparative genomics analyses to reveal the evolutionary processes underlying the adaptive and functional evolution of OR genes in S. younghusbandi, a cyprinid fish endemic to the Qinghai-Xizang Plateau. The results indicated that, compared to their low-altitude relatives, S. younghusbandi possessed a significantly smaller number of OR genes, with only 98 genes, which revealed the contraction of the gene family. Phylogenetic analysis revealed that the OR genes of cyprinid fish could be categorized into two major lineages: type I and type II. The η and δ families, which perceive water-soluble odors, in S. younghusbandi underwent significant and specific expansion, while the ε family was completely absent. This pattern reflected adaptive changes in olfactory recognition to accommodate the simplified odor spectrum of high-altitude water bodies. Chromosomal localization analysis demonstrated that OR genes were clustered, and collinearity analysis confirmed the presence of conserved genomic fragments among species. Selection pressure analysis revealed that the Ka/Ks values of all homologous gene pairs were less than 1, indicating that the OR genes of S. younghusbandi underwent strong purifying selection as a group to preserve core olfactory function. A few genes exhibited relaxed selection characteristics, which may have facilitated the fine-tuning of adaptability to high-altitude environments. In conclusion, this study elucidated the evolutionary dynamics and adaptive characteristics of the OR gene in S. younghusbandi, offering a new perspective on the molecular mechanisms underlying olfactory adaptation at high altitudes and enriching the research on sensory evolution in vertebrates.

Schizopygopsis younghusbandi↗
PubMed1976

[Altitude adaptation. V. (conclusion). Morbidity and mortality. Literature].

The ability to adapt to extreme conditions is a continously working principle of man's evolution, in a permanent orientation to an optimal equilibrium between man and environment. A paradigm of biological adaptation is the condition of hypoxia at high altitudes, as one of the few environment constellations to which a pure biological and thus genetically based answer could be possible. The majority of adaptations are influenced by technological actions, which partially modify the environment in compensating unfavourable constellations (heating, clothing, housing, etc.). It is discussed, how far the adaptation to high altitudes produces transitory or permanent alterations with reference to constitution, perseverance, cold-sensitivity, diseases, duration of life, fertility, course of pregnancy, adaptations at the organ- and tissue-level, blood-composition, fluid-equilibrium of the body etc., which guarantee the survival of the individual and its successful reproduction with regard to the continuance of a mendel population. The elucidation of the question on genetic determination of features characteristic for high altitude inhabitants is difficult because we know next to nothing about the genetic determination of physiologic parameters. Studies on ethnic marker-genes (Ethiopia, South-America) give no reference to population differences. Remarkable is a striking prevalence of the blood-group O for all populations of high altitudes, but one must consider the effects of isolation in terms of the increase in the homozygote recessive alleles. We can propose, that in the primary settlement at high altitudes a "hard selection" was working, a kind of biological assortation-process from the beginning, which eliminated those individuals, who proved to be (for genetic reasons?) not adaptable. A good example for this are observations of cattle, from which 50% do not develop pulmonary hypertension when exposed to altitude, that means they already have a higher initial fitness. The non-adaptable animals have to be returned to the lowlands. In the F1-generation only 2% of the animals remaining at high altitude, develop "brisket disease". Possibly that means a sort of "out-mendeling" of "pulmonary-hypertension-genes", which may manifest themselves in the condition of hypoxia. Also the good adaptation of llamas is partially due to the fact that the camelids per se possess an outstanding O2 affinity and morphologically different red blood cells, which predispose this species to inhabit high altitudes. Parallel to considerations like these it could be imaginable, that e.g. the indianids of mongoloids in general, are genetically composed as fit to inhabit lowlands as well as highlands, in contrast to caucasoids and negroids. The largest mountain areas of the world (the Andes: 12 X 10(6)), the Himalayas 12 X 10(6)) are inhabited by populations of mongoloid ancestry, for about 10,000 years, a period, which ought to be long enough to make possible genetic specialisation, although it is not yet possible to prove it...

Acclimatization↗
PubMed1992

Immunoglobulin-G and creatinine levels in rabbits in altitude adaptation.

The changes of immunoglobulin-G and creatinine levels in mid-altitude were investigated in rabbits. The animals living at sea level were exposed to 2240 m altitude for 22 days period. When compared with sea level values; immunoglobulin-G levels were significantly low. Serum creatinine level decreased significantly in the 2nd day, then reached the sea level amount on the 12th day. On the 22nd day a significant increase was observed. It was concluded that the decrease in immunoglobulin-G values may be due to the depression of protein synthesis. The increase in plasma creatinine level would be explained by the decrease in urine.

Adaptation, Physiological↗
PubMed1976

[The concentration and bisynthesis of ubiquinone-9 in the liver of white rats adapted to altitude hypoxia].

The content and biosynthesis of ubiquinone-9 in the thin slices of the liver of rats was studied during altitude adaptation. There was a three-fold acceleration of ubiquinone biosynthesis during the first period of altitude adaptation. Acceleration of biosynthesis of ubiquinone-9 in rat liver was insignificant after two weeks of adaptation. The content of ubiquinone-9 in rat liver changed but insignificantly in the course of one month of altitude adaptation.

Adaptation, Physiological↗