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基于现代和古代人群基因组研究结果探讨白令陆桥在人类适应北极环境中的作用。

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

作者信息

Malyarchuk B A

机构信息

Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia N.A. Shilo North-East Interdisciplinary Scientific Research Institute, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia.

出版信息

Vavilovskii Zhurnal Genet Selektsii. 2023 Jul;27(4):373-382. doi: 10.18699/VJGB-23-45.

Abstract

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 variant.

摘要

第四纪地质学、考古学、古人类学和人类遗传学的研究结果表明,美洲原住民的祖先主要沿着太平洋西北海岸抵达北美洲中纬度地区,但此前他们曾居住在北极地区,在末次盛冰期时处于白令陆桥的避难所中,白令陆桥是连接欧亚大陆和北美洲的陆地桥梁。美洲原住民的基因库由线粒体DNA和Y染色体的独特单倍群代表,其进化年龄在1.3万至2.2万年之间。古基因组分析结果还表明,在末次盛冰期,白令陆桥居住着因北欧亚大陆最古老的旧石器时代晚期人群与来自东亚的新人群相互作用而产生的人类群体。大约2万年前,白令陆桥人群开始形成,他们相对孤立存在的时间估计约为5000年。因此,白令陆桥人群对北极环境的适应可能花费了数千年时间。美洲印第安人祖先对高纬度和寒冷气候的适应得到了基因组数据的支持,这些数据表明美洲原住民的适应性基因变异与各种代谢途径相关:皮肤、头发和眼睛中的黑色素生成过程、心血管系统的功能、能量代谢和免疫反应特征。与此同时,对关于美洲印第安人白令陆桥祖先某些基因变异与适应北极环境相关选择的现有假设(例如,FADS、ACTN3、EDAR基因)的分析表明,测试结果存在模糊性,这可能是由于现代美洲原住民基因库中一些“白令陆桥”适应痕迹的丧失。进一步研究的最优策略似乎是寻找适应性变异。

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