FADS Gene Polymorphism and the History of the Formation of the Indigenous Populations of Siberia

IF 0.6 4区生物学 Q4 GENETICS & HEREDITY

Russian Journal of Genetics Pub Date : 2024-03-11 DOI:10.1134/s1022795424020091

B. A. Malyarchuk, M. V. Derenko, G. A. Denisova, A. N. Litvinov, I. K. Dambueva

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Abstract

The polymorphism of the rs174570, rs74771917, and rs7115739 loci of the FADS gene in Siberian populations was studied. It was shown that the frequency of the rs174570-T variant marking haplotype A with a reduced level of fatty acid desaturase expression in the modern indigenous populations increases in the direction from the south to the north of Siberia. Similarly, an increase in the frequency of the TTT haplotype at the rs174570, rs74771917, and rs7115739 loci was observed in the northern direction. However, in ancient times, the populations of Eastern Siberia (its northeastern part, Baikal region, and Primorye) were characterized by an equally high frequency of the rs174570-T variant (over 80%). It was shown that the main influx of the rs174570-C allele (and the CCG haplotype) to northeast Siberia occurred relatively recently, over the past 300 years, as a result of mating contacts between indigenous populations and immigrant groups of predominantly eastern European origin. The gene flow intensity (for the rs174570-C allele) is estimated to be 1.5–4.4% per generation. The appearance of the rs174570-C variant in the population of the Baikal region has been registered since the Eneolithic epoch, which is apparently associated mainly with the advance of the Afanasievo culture tribes to the east of Siberia. Meanwhile, analysis of paleogenomic data showed that the TTT haplotype, with high frequency distributed in modern Eskimos and Amerindians, was present in the Upper Paleolithic population of the Amur region, and therefore its carriers apparently took part in the formation of the ancient Beringian population.

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FADS 基因多态性与西伯利亚土著居民的形成史

摘要研究了西伯利亚人群中FADS基因rs174570、rs74771917和rs7115739位点的多态性。研究表明，在现代土著人群中，脂肪酸去饱和酶表达水平降低的 rs174570-T 变异标记单倍型 A 的频率从西伯利亚南部向北部方向增加。同样，在 rs174570、rs74771917 和 rs7115739 位点上，TTT 单倍型的频率也向北增加。然而，在古代，东西伯利亚（其东北部、贝加尔湖地区和滨海地区）人口的特点是 rs174570-T 变体的频率同样很高（超过 80%）。研究表明，rs174570-C 等位基因（和 CCG 单倍型）流入西伯利亚东北部的时间相对较近，是在过去 300 年间，土著居民与主要来自东欧的移民群体交配接触的结果。据估计，基因流动强度（rs174570-C 等位基因）为每代 1.5-4.4%。贝加尔地区人口中出现 rs174570-C 变体始于新石器时代，这显然主要与阿法纳西沃文化部落向西伯利亚东部推进有关。同时，古基因组数据分析显示，在现代爱斯基摩人和美洲印第安人中分布频率较高的 TTT 单倍型也出现在阿穆尔地区的旧石器时代上层人口中，因此其携带者显然参与了古代白令海人口的形成。

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来源期刊

Russian Journal of Genetics 生物-遗传学

CiteScore

1.00

自引率

33.30%

发文量

126

审稿时长

1 months

期刊介绍： Russian Journal of Genetics is a journal intended to make significant contribution to the development of genetics. The journal publishes reviews and experimental papers in the areas of theoretical and applied genetics. It presents fundamental research on genetic processes at molecular, cell, organism, and population levels, including problems of the conservation and rational management of genetic resources and the functional genomics, evolutionary genomics and medical genetics.