Scientists have refuted the saying "scratch a Russian - you will find a Tatar." The Mongol invasion left almost no trace in the Russian genomes, and the Scythians were not our direct ancestors. From whom did the Russians originate and what can be learned about them by DNA.
What does the Russian genome consist of?
“The genome of a Russian, like the genome of any other organism, contains four nucleotides: adenine, guanine, cytosine and thymine, which are monoesters of phosphoric acid and linked by a phosphodiester bond. More than 99.5 percent of the nucleotide sequences in the genomes of all people on Earth are identical, but these half a percent or even less - one tenth - account for all the differences,”comments Vladimir Bryukhin, leading researcher at the FG Dobrzhansky Center for Genomic Bioinformatics, St. Petersburg State University …
When DNA is inherited from generation to generation, various changes occur in its structure. These are insertions or gaps (deletions) of fragments, long or short repeats of a certain combination of nucleotides, single-nucleotide polymormisms, when only one letter is replaced in some part of the gene, and other variants. Some happen by chance (genetic drift), others are the result of adaptation to environmental conditions. All this, as a rule, is located in the non-coding part of the genome, the one that does not carry information about protein synthesis.
The resulting variant of the genome can be inherited and gain a foothold in the population. Then it serves as a marker by which some populations are distinguished from others. At the same time, it is far from always possible to unambiguously compare the populations with the historical people.
Scientists have discovered a wide variety of genomes
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There are almost two hundred ethnic groups in Russia, of which about eighty percent identify themselves as Russian. But even their scholars consider them a "polyethnos", a mixture of ancient Balto-Slavic and Germanic tribes, Finno-Ugric and Turkic peoples, many smaller ethnic groups. The genomes of Russians from different regions, often neighboring ones, differ markedly. In a word, it is unrealistic to bring all the genetic diversity of Russians under a common denominator and get a certain genome of the “average Russian”. For this reason, for example, more than fifty populations, including thirty regional Russian ethnic groups, have been chosen for the Russian Genomes project, which is being implemented under the auspices of St. So far, 330 genomes from 17 populations have been sequenced. This is not enough for statistics,but scientists have recently shared some of the results. “According to preliminary data, on the whole, Russians have a lot in common with the Finno-Ugrians, the Baltic and Western European genomes, which, however, reflects the history of migration and settlement of the people. Although no general unity has yet been traced: the genomes of the Pskov and Novgorod populations are similar to the Baltic ones, the Arkhangelsk ones hardly differ from the Western Finno-Ugric ones, and the southern Russians are close to the Western European ones and practically do not contain the Finno-Ugric component, in contrast to the Russian northwestern and central parts. Russia,”the scientist continues.the genomes of the Pskov and Novgorod populations are similar to the Baltic ones, the Arkhangelsk ones hardly differ from the western Finno-Ugric ones, and the southern Russians are close to the Western European ones and practically do not contain the Finno-Ugric component, in contrast to the Russians in the northwestern and central parts of Russia,”the scientist continues.the genomes of the Pskov and Novgorod populations are similar to the Baltic ones, the Arkhangelsk ones hardly differ from the western Finno-Ugric ones, and the southern Russians are close to the Western European ones and practically do not contain the Finno-Ugric component, in contrast to the Russians in the northwestern and central parts of Russia,”the scientist continues.
Genes tell about health characteristics
Researchers are interested in both ethnicity and health-related gene variants: predisposition to diseases, the effectiveness of drugs, the possible consequences of taking them. “As our studies have shown, on average in the genome of each person there are 50-60 genomic variants that affect the likelihood of developing a particular disease,” notes Bryukhin. It has long been known that certain hereditary diseases are more common in some populations than others. For example, phenylketonuria, which is caused by metabolic disorders and leads to mental retardation with improper nutrition, is not so rare in Europeans and Russians. But the Mari, Chuvashes, Udmurts, and Adyghes have almost none. To what extent genetic differences are responsible for this, scientists have to find out. The prevalence of the genetic variant in the TBC1D31 gene,associated, for example, with diabetic kidney disease, differs even between the Pskov and Novgorod populations by almost two and seven times compared to the Yakut population,”the scientist adds, stressing that these are preliminary data.
And if you scrape deeper
How do geneticists link DNA and ethnicity? They go on expeditions to various regions, take samples from the locals and write down what nationality they consider themselves to, where their parents and grandparents come from. If at least three generations of a family lived in one village and called themselves Russians, such a genome is attributed to this ethnos originating from a certain area. Nuclear and mitochondrial DNA is then isolated from saliva or blood samples in the laboratory and complete sequencing is performed. The results - chains of billions of letters - are analyzed in programs, isolating known markers, looking for new ones, and comparing with each other. Extraction and sequencing methods, as well as analysis algorithms, are constantly being improved. In 2015, scientists from the Institute of General Genetics of the Russian Academy of Sciences, together with foreign colleagues, published the results of a large-scale study of Russian genomes. According to their data, the northern, central and southern groups are clearly distinguished. The difference is in the "substratum", that is, ethnic groups that lived on the territory of the European part of Russia before the arrival of the Slavs and Balts. Trying to identify this ancient ancestral substrate with today's peoples is wrong. Scientists are inclined to conclude that it existed even before the division of populations into Slavs, Balts, Germans, Finno-Ugric peoples, and so on. We have been separated from him for more than one millennium. Who these peoples were, the bearers of what cultures, remains to be seen. The widespread opinion that the Slavs are direct descendants of the Scythians and, in a broader sense, Asians, is not confirmed for the same reasons: the Scythians lived two and a half thousand years ago. Russians may also have their genes, but only through the mediation of some other ethnic groups that are closer to us in time. It's like with the genes of Neanderthals and Denisovans, which Russians have, like most modern human populations, since we all descend from the same ancestors who came out of Africa hundreds of thousands of years ago. Scientists also deny the great contribution of the Tatar-Mongols to the Russian gene pool. The yoke has influenced history and culture, but his trace is barely noticeable in the genes. The Asian component is present in small quantities, but it is more ancient, from the ethnic groups that inhabited Siberia long before the events of the XII-XIV centuries. One of the illustrative examples is the study of the genomes of the Cossacks. Some historians admit that since the Cossacks lived on the border of Russia, protecting it from the raids of the Turkic-speaking tribes,then they could eventually absorb the steppe (meaning the Mongol-Tatar) component. Russian scientists, together with their Ukrainian colleagues, decided to check this and sequenced the genomes of four Cossack groups. It turned out that ninety percent of the gene pool of the upper and lower Don, Kuban, Zaporozhye is similar to the East Slavic, as among the Russians, Ukrainians, Belarusians. But the Terek Cossacks are an exception, they have a noticeable contribution of North Caucasian genes. The study of the genomes of Russians and other ethnic groups living in the country is the mainstream of world science. Without this, it is impossible to establish the origin of modern populations, ancient migrations of the population, to clarify and test historical hypotheses. And this is necessary in order to study the spread of hereditary diseases, to find genetic markers that will help to make medicine targeted.
Illustration by RIA Novosti. The data from Utyvska OM and others were used. The origin of the main groups of the Cossacks according to the data on polymorphism on the chromosome // Bulletin of the Odessa National University. Series: Biology. - 2015. - No. 20, Vip. 2. - S. 61-69.
Distribution of haplogroups among Russian populations. A haplogroup is a collection of genomic variants present in a population that indicates ancestors. The diagrams show the similarity of the genomes of central and southern Russians, Don Cossacks. The residents of the Arkhangelsk region have a distinct haplogroup N1c (brown) characteristic of the Finno-Ugric peoples
Tatiana Pichugina