Long-term gene-environment interactions and genetics of metabolic disorders in aboriginal populations of Northeast Asia

Malyarchuk, B. A.; Аркадьевич, Малярчук Борис

doi:10.17816/ecogen16230-35

Cited by 6 publications

(2 citation statements)

References 23 publications

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“…Interestingly, in a number of cases, adaptive changes in the gene pools of Eskimo and Paleo-Asiatic populations are caused by nonsynonymous substitutions with high pathogenicity indices (in the CPT1A, CRAT genes), nonsense mutations leading to stop codons or splicing disruption (in the SI, TBC1D4 and ADCY3 genes), and whole gene deletions (as in the case of the AMY2A gene) Pedersen et al, 2017;Malyarchuk, 2018). It seems likely that this kind of fairly profound genetic changes could have been preserved in the gene pools of Native Americans if they had adapted to the Arctic environment in a similar way, involving a very specific "Arctic" diet.…”

Section: On Adaptive Selection In Native American Ancestorsmentioning

confidence: 99%

The role of Beringia in human adaptation to Arctic conditions based on results of genomic studies of modern and ancient populations

Malyarchuk

2023

Vestn. VOGiS

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The results of studies in Quaternary geology, archeology, paleoanthropology and human genetics demonstrate that the ancestors of Native Americans arrived in mid-latitude North America mainly along the Pacific Northwest Coast, but had previously inhabited the Arctic and during the last glacial maximum were in a refugium in Beringia, a land bridge connecting Eurasia and North America. The gene pool of Native Americans is represented by unique haplogroups of mitochondrial DNA and the Y chromosome, the evolutionary age of which ranges from 13 to 22 thousand years. The results of a paleogenomic analysis also show that during the last glacial maximum Beringia was populated by human groups that had arisen as a result of interaction between the most ancient Upper Paleolithic populations of Northern Eurasia and newcomer groups from East Asia. Approximately 20 thousand years ago the Beringian populations began to form, and the duration of their existence in relative isolation is estimated at about 5 thousand years. Thus, the adaptation of the Beringians to the Arctic conditions could have taken several millennia. The adaptation of Amerindian ancestors to high latitudes and cold climates is supported by genomic data showing that adaptive genetic variants in Native Americans are associated with various metabolic pathways: melanin production processes in the skin, hair and eyes, the functioning of the cardiovascular system, energy metabolism and immune response characteristics. Meanwhile, the analysis of the existing hypotheses about the selection of some genetic variants in the Beringian ancestors of the Amerindians in connection with adaptation to the Arctic conditions (for example, in the FADS, ACTN3, EDAR genes) shows the ambiguity of the testing results, which may be due to the loss of some traces of the “Beringian” adaptation in the gene pools of modern Native Americans. The most optimal strategy for further research seems to be the search for adaptive variants using the analysis of paleogenomic data from the territory of Beringia, but such genetic data are still very scarce.

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Section: On Adaptive Selection In Native American Ancestorsmentioning

confidence: 99%

The role of Beringia in human adaptation to Arctic conditions based on results of genomic studies of modern and ancient populations

Malyarchuk

2023

Vestn. VOGiS

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“…Давление естественного отбора в экстремальных климатических условиях сформировало специфический генетический портрет коренного населения циркумполярной зоны» [7][8][9][10]. Ряд исследований убедительно подтверждает участие отдельных генов в адаптации к холоду [11][12][13][14][15][16][17][18]. Под возможным действием отбора находятся гены, вовлеченные в процессы терморегуляции; гены, контролирующие ответ на температурный стресс и энергетический метаболизм, в том числе и метаболизм липидов; гены регуляции мышечных сокращений, артериального давления; передачи сигналов и межклеточных взаимодействий» [19,20].…”

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Selection of Informative Genetic Markers for Assessment of Adaptabilities of Northerners: A Review

Bezmenova¹

2023

PH&LE

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Introduction: Habitation and the process of adaptation of the population of northern regions to the harsh environment are associated with the development of such syndromes and conditions as polar tension, polar dyspnea, the polar metabolic type, premature aging, and north-related hypertension, and aimed at maintaining homeostasis constancy to ensure full life activity in extreme environmental conditions, it which issues of preserving human health and labor potential remain highly relevant. Objective: To review published data on physiological and genetic adaptation to adverse climate and environmental stressors and to establish informative genetic markers for assessing adaptabilities of northerners. Materials and methods: The review includes data of Russian and foreign studies published in Russian and English languages in 1980–2021 and cited in the Pubmed, NCBI, eLIBRARY.RU, Scopus, Web of Science, and RSCI databases. Of 330 articles found, 40 full-text materials were selected for this review based on the following criteria: availability of data on polymorphic variants of genes involved in the genetic adaptation of humans to extreme conditions of the north; availability of data on epidemiology of genes associated with multifactorial diseases most common in the circumpolar zone; availability of data on adverse health effects of environmental factors in northerners, and ethnic features of gene pools of indigenous people and newcomers of the circumpolar zone. Methods of information analysis were applied to summarize the results of studies reviewed. Results: A strategy for assessing the level of functional reorganization of the human organism in the North is proposed. The article also describes a panel of informative genetic markers selected for a comprehensive assessment of adaptability of northerners, including, inter alia, normal genetic variability of adapting people, with the purpose of creating region-oriented diagnostic maps allowing assessment of total risks of cold-related illnesses for timely correction of the lifestyle and taking preventive and therapeutic measures. Discussion: In the genetic and epidemiological study of human populations living in extreme environments, it is expedient to use a comprehensive approach that includes personalized, preventive and predictive assessment of medical, psycho-physiological and genetic determinants of the functional state matrix, reflecting the current level of adaptation of northerners.

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Adaptive Changes in Fatty Acid Desaturation Genes in Indigenous Populations of Northeast Siberia

2021

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Long-term gene-environment interactions and genetics of metabolic disorders in aboriginal populations of Northeast Asia

Cited by 6 publications

References 23 publications

The role of Beringia in human adaptation to Arctic conditions based on results of genomic studies of modern and ancient populations

The role of Beringia in human adaptation to Arctic conditions based on results of genomic studies of modern and ancient populations

Selection of Informative Genetic Markers for Assessment of Adaptabilities of Northerners: A Review

Adaptive Changes in Fatty Acid Desaturation Genes in Indigenous Populations of Northeast Siberia

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