Russian Genetics: Abstracts and Summaries

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Russians are the dominant ethnicity in Russia today. The Russian language belongs to the East Slavic family and is related to Ukrainian and Belarusian. The Russian people, too, are closely related to their Belarusian and Ukrainian neighbors, and also fairly close to Poles and Slovenians, who speak other forms of Slavic. The main ancestors of the Russians included Krivichians, Radimichians, Vyatichians, Severians, and the Ilmen Slavs (Il'menskie slavyane), all of whom were East Slavs. But it is also known that some families of ethnic Russians intermarried with Finnic and Uralic peoples and with Volga Tatars centuries ago. Geneticists found that some Russians are related to the Merya and Muromian peoples that inhabit the north-central part of the European side of Russia.

We can genetically divide the Russian people into two main types: Northern Russians and Southern Russians.

The Y-DNA (paternal) haplogroup R1a and its offshoots are very common among Russian men. Studies have found the ethnic Russian frequency of R1a ranges from a low of 19.8 percent to as high as 62.7 percent, depending on the study and the geographic region being studied, with an average of 46.7% of Russian men carrying R1a. Northern Russian men carry R1a at a lower frequency (33.4%) than other Russian men (49%). R1a spread throughout many areas of eastern Europe with the migration of members of the Indo-Europeans from the Ukrainian-Russian steppe following their migration from West Asia (the northern Middle East). Some specific subgroups of R1a found among ethnic Russians in the "Russia-Slavic DNA Project" include R1a1, R1a1a, R1a1a1g, and R1a1a1g2.

Among Russian men, the Y-DNA haplogroup R1b ranges in frequency from 0 to 14 percent, and is found on average among 5.8%. The "Russia-Slavic DNA Project" includes men who have the sub-types R1b1a2 and R1b1a2a1a1b.

The Y-DNA haplogroup I is found between zero and 26.8 percent among Russian men. Their average frequency is 17.6% when all regions of Russia are taken into account, but a little higher (23.5%) when the scope is limited to central and southern Russia. Some members of the "Russia-Slavic DNA Project" carry the sub-types I2a and I2a2.

The Y-DNA haplogroup N is also common among Russian men, at frequencies between 5.4 percent and 53.7 percent. Their average frequency is 21.6% when all regions of Russia are taken into account, but only 10% when the scope is limited to central and southern Russia. N haplogroups are often signals of Finnic ancestry so the higher frequency of them in more northerly Russians is accounted for by intermarriage with their nearby Finnic neighbors. N1c1 is a sub-type that's found in Russia.

E1b1b Y-DNA haplogroups (ultimately originating in northeastern Africa) are not very common among Russian men, but some do have them, and the "Russia-Slavic DNA Project" has men who specifically carry E1b1b1 and E1b1b1a1b.

Some Russians carry U4 mtDNA haplogroups; these are common among northwestern and central Siberian peoples, including Kets, the Finnic-speaking Veps (Vepsians) of northwestern Russia, as well as among the Chuvash and Mari peoples of the Volga-Ural region.

Major studies of Russians

Irina Morozova, Alexey Evsyukov, Andrey Kon'kov, Alexandra Grosheva, Olga Zhukova, and Sergey Rychkov. "Russian ethnic history inferred from mitochondrial DNA diversity." American Journal of Physical Anthropology. First published online on December 20, 2011. Previous studies showed that Northern Russians genetically differ from Southern Russians. This study confirms that, showing that Northern Russians (but not Southern Russians) significantly intermarried with Finno-Ugric peoples, while Southern Russians (but not Northern Russians) intermarried with Germanic peoples. Russians were also found to be genetically tied to other Slavs and to Baltic peoples and to a lesser degree to Iranian and Turkic peoples. Excerpts from the Abstract:

"With the aim of gaining insight into the genetic history of the Russians, we have studied mitochondrial DNA diversity among a number of modern Russian populations. [...] Our results indicate that the formation of the genetic diversity currently observed among Russians can be traced to the second half of the first millennium A.D., the time of the colonization of the East European Plain by the Slavic tribes. Patterns of diversity are explained by both the impact of the native population of the East European Plain and by genetic differences among the early Slavs."

Oleg Balanovsky, Siiri Rootsi, Andrey Pshenichnov, Toomas Kivisild, Michail Churnosov, Irina Evseeva, Elvira Pocheshkhova, Margarita Boldyreva, Nikolay Yankovsky, Elena Balanovska, and Richard Villems. "Two Sources of the Russian Patrilineal Heritage in Their Eurasian Context." American Journal of Human Genetics 82:1 (January 10, 2008): pages 236-250. Excerpts from the abstract:

"[...] In the present study of the variation of the Y chromosome pool of ethnic Russians, we show that the patrilineages within the pre-Ivan the Terrible historic borders of Russia have two main distinct sources. One of these antedates the linguistic split between West and East Slavonic-speaking people and is common for the two groups; the other is genetically highlighted by the pre-eminence of haplogroup (hg) N3 and is most parsimoniously explained by extensive assimilation of (or language change in) northeastern indigenous Finno-Ugric tribes. Although hg N3 is common for both East European and Siberian Y chromosomes, other typically Siberian or Mongolian hgs (Q and C) have negligible influence within the studied Russian Y chromosome pool. The distribution of all frequent Y chromosome haplogroups (which account for 95% of the Y chromosomal spectrum in Russians) follows a similar north-south clinal pattern among autosomal markers, apparent from synthetic maps. Multidimensional scaling (MDS) plots comparing intra ethnic and interethnic variation of Y chromosome in Europe show that although well detectable, intraethnic variation signals do not cross interethnic borders, except between Poles, Ukrainians, and central-southern Russians, thereby revealing their overwhelmingly shared patrilineal ancestry."

Excerpts from middle of the study:

"[...] Russian 'ethnicity,' understood as indicated above, was finally formed approximately in the 14th-16th centuries within the central-eastern and northern parts of the eastern Europe, whereas the south and the west of this large area became homelands of linguistically closely related Ukrainians and Belorussians. [...] The genetic sampling in this study is restricted to the Russian subpopulations from the historical Russian area, defined here as the territory before the extensive expansion phase since Ivan the Terrible in the mid-16th century and beyond. [...] We collected 1228 DNA samples from 14 regional Russian populations. All sampled individuals identified their four grandparents as ethnic Russians, with their mother tongue being Russian. The rural areas and small towns were chosen for sampling so that the influence of more recent migrations could be minimized. Only individuals with all four grandparents born in the local area were sampled. [...] The 1228 Russian Y chromosomes analyzed, all except 20 (1.6%) fall into seven major haplogroups (E, G, I, J, K2, N, and R1) characteristic to West Eurasian populations (Table 2). Eleven samples could be classified up to the root level of haplogroups F and K, and nine samples (0.7%) fell into haplogroups C, Q, and R2 that are specific to East and South Asian populations. At a higher level of molecular resolution, only eight subclades of these major West Eurasian Y chromosome haplogroups are presented with their average frequency greater than 1%, including R1a, N3, I1b, R1b, I1a, J2, N2, and E3b. Taken together, they account for 95% of the total Russian Y chromosomal pool. [...] Every second Russian Y chromosome belongs to haplogroup R1a. [...] within the boundaries of Europe, R1a is characteristic for Balto-Slavonic populations, with two exceptions: southern Slavs and northern Russians (Figure 3A). R1a frequency decreases in northeastern Russian populations down to 20%-30%, in contrast to central-southern Russia, where its frequency is twice as high (Table 2). [...] The second frequent among Russians is haplogroup N3 (Figure 3C), which is a typical haplogroup for Altaic and Finno-Ugric populations of Siberia and northeastern Europe. Figure 3C illustrates the fact that within the Russian area, the frequency of N3 decreases significantly from north (>35%) to south (<10%). [...] The third most frequent haplogroup in Russians is I1b, and its variation is also clinal (Figure 4B). [...] The remaining two haplogroups, J2 and E3b, exhibit spotty frequencies in Russians, expected for low-frequency haplogroups (Figures 4C and 4D; Table 2). The haplogroups might have arrived to Russia alongside I1b from the Balkans, in which the two are frequent. [...]"

Boris Abramovich Malyarchuk, Miroslava V. Derenko, Tomasz Grzybowski, A. Lunkina, Jakub Czarny, S. Rychkov, I. Morozova, Galina A. Denisova, and Danuta Miścicka-Śliwka. "Differentiation of mitochondrial DNA and Y chromosomes in Russian populations." Human Biology 76:6 (December 2004): pages 877-900. A study of 325 people from 5 ethnic Russian populations living in European Russia. 97.9% of their mtDNA haplogroups were West Eurasian, while 99.7% of their Y-DNA haplogroups were West Eurasian. East Eurasian (Mongoloid) haplogroups were found in very small frequencies. All told, Russians are related to other peoples of central and eastern Europe. Northern Russians' Y-DNA haplogroups have an affinity with those of Baltic and Finno-Ugric men.

Boris Abramovich Malyarchuk, Tomasz Grzybowski, Miroslava V. Derenko, Jakub Czarny, Marcin Woźniak, and Danuta Miścicka-Śliwka. "Mitochondrial DNA variability in Poles and Russians." Annals of Human Genetics 66 (2002): pages 261-283. (mirror) Excerpts from the summary:

"Mitochondrial DNA (mtDNA) sequence variation was examined in Poles (from the Pomerania-Kujawy region; n = 436) and Russians (from three different regions of the European part of Russia; n = 201) [...] The classification of mitochondrial haplotypes revealed the presence of all major European haplogroups, which were characterized by similar patterns of distribution in Poles and Russians. An analysis of the distribution of the control region haplotypes did not reveal any specific combinations of unique mtDNA haplotypes and their subclusters that clearly distinguish both Poles and Russians from the neighbouring European populations. The only exception is a novel subcluster U4a within subhaplogroup U4, defined by a diagnostic mutation at nucleotide position 310 in HVS II. This subcluster was found in common predominantly between Poles and Russians (at a frequency of 2.3% and 2.0%, respectively) and may therefore have a central-eastern European origin."

Excerpts from page 268:

"The main mitochondrial haplogroup of the Polish and Russian sequences is group H, which is the most frequent haplogroup in Europe and also common in the Near East (Richards et al. 1998, 2000). Haplogroup H comprises the majority of the Russian (42.3%) and Polish (45.2%) samples. [...] The node designated as HV* (Richards et al. 1998, 2000) is highly important in mtDNA phylogeny because two of the most frequent haplogroups in Europe, H and pre-V, descend from it. The haplogroup HV*, rare in European populations, was identified in Polish and Russian samples with low frequency (1% and 2%, respectively). [...] Haplogroup pre-V sequences, defined by the CR motif 16298-72 (Torroni et al. 2001), were present in Poles and Russians at frequencies of 4.8% and 5.5%, respectively."

Excerpts from page 269:

"Haplogroup J sequences in Poles and Russians are characterized by similar frequencies of 7.8% and 8%, respectively. [...] Haplogroup U and K sequences, which are defined by a variant-12308HinfI, were found in 19.5% of the Polish mtDNAs and in 20.0% of the Russian mtDNAs."

Excerpts from page 270:

"The distribution of the subgroup U5a and U5b frequencies in Poles and Russians is approximately equal, with the U5a subgroup prevailing over U5b — 5.3% and 3.4% in Poles, and 7.5% and 3% in Russians. U4 (with CR motif 16356-195) is the next relatively frequent subgroup in the populations studied, being found at a frequency of 5% in Poles and 3.5% in Russians."

Excerpts from page 272:

"In addition, both Polish and Russian samples are characterized by the presence of the Saami-specific U5b-motif (16144-16189-16270) found at a frequency of 0.5% in Poles and 1.5% in Russians. The presence of the Saami-specific mtDNAs from haplogroups D and U5b, as well as haplogroup Z sequences, in the mitochondrial gene pool of Russians was considered as a consequence of local Finno-Ugric tribe assimilation by Slavs during their movement to the north of Eastern Europe, a trend suggested previously by anthropologists (Alekseeva, 1973)."

Boris Abramovich Malyarchuk, Miroslava V. Derenko, Tomasz Grzybowski, Jakub Czarny, Danuta Miścicka-Śliwka, Galina A. Denisova, and E. A. Kostyunina. [Mitochondrial DNA variation in Russian populations of Stavropol krai, Orel and Saratov oblasts - article in the Russian language] Genetika 38:11 (November 2002): pages 1532-1538. Excerpts from the abstract, translated into English:

"Mitochondrial DNA (mtDNA) polymorphism was examined in three Russian populations from the European part of Russia (Stavropol krai, Orel oblast, and Saratov oblast). This analysis showed that mitochondrial gene pool of Russians was represented by the mtDNA types belonging to haplogroups H, V, HV*, J, T, U, K, I, W, and X. A mongoloid admixture (1.5%) was revealed in the form of mtDNA types of macrohaplogroup M. Comparative analysis of the mtDNA haplogroup frequency distribution patterns in six Russian populations from the European part of Russia indicated the absence of substantial genetic differences between them. However, in Russian populations from the southern and central regions the frequency of haplogroup V (average frequency 8%) was higher than in the populations from more northern regions. [...]"

Vladimir Orekhov, Andrey Poltoraus, Lev A. Zhivotovsky, Viktor Spitsyn, Pavel Ivanov, and Nikolay Yankovsky. "Mitochondrial DNA sequence diversity in Russians." FEBS Letters 445:1 (February 19, 1999): pages 197-201. Abstract:

"The article presents the results of the first regular study of Russian populations by sequencing the control region of mitochondrial DNA (mtDNA). The sequenced region is the most variable on mtDNA molecule and is commonly used for population and evolutionary studies. Russians form one of the largest ethnic groups (more than 129 million). However, their genetic diversity had only been characterized with RFLP and biochemical markers, although there are already established mtDNA sequence databases for many ethnic groups of the world. We have obtained sequence data from 103 individuals living in three Russian regions: Kostroma, Kursk, and Rjazan. The sequenced fragment analyzed is 360 bp in length (positions from 16024 to 16383). Fifty nine nucleotide positions have been found polymorphic in Russians, among those were 57 transitions and two transversions. One individual is found having two insertions of two cytosines between positions 16184 and 16193. Among 64 different mitotypes identified in the study 52 were unique in these samples. The index of genetic diversity (Nei, 1987) for Russians is 0.96. This value is within the established range for European populations (0.93 to 0.98). Genetic distances calculated from our data show that Russians form a cluster with Germans, Bulgarians, Swedes, Estonians, and Volgo-Finns are more distant from Karelians and Finns, and much more differ from Turks and especially Mongolians."

T. A. Suslova, A. L. Burmistrova, M. S. Chernova, E. B. Khromova, E. I. Lupar, S. V. Timofeeva, I. V. Devald, M. N. Vavilov, and C. Darke. "HLA gene and haplotype frequencies in Russians, Bashkirs and Tatars, living in the Chelyabinsk Region (Russian South Urals)." International Journal of Immunogenetics 39:5 (October 2012): pages 394-408. First published electronically on April 20, 2012. 207 Russians participated in this study that examined allele families and haplotypes, specifically the HLA-A, HLA-B, HLA-DRB1, HLA-DQA1 and HLA-DQB1 profiles of the three ethnic groups listed in the title, and compared these groups to others. The researchers confirmed that Russians from the Chelyabinsk region are racially Caucasoid but also have partial Finno-Ugric ancestry.

Ewen Callaway. "The rise of the genome bloggers." Nature 468 (2010): pages 880-881. Also published online on December 15, 2010. The chart called "MEET THE ANCESTORS" uses data from the Dodecad Ancestry Project to indicate that Russians have a small amount of "Central Siberian" ancestry and a small amount of "Nganasan" ancestry but that they are predominantly "Northern European". Sidebar:

"Finns and northern-living Russians may be genetically linked to some isolated Siberian populations (yellow), such as Selkups and Kets, as well as Nganasans (green), a tiny population living near the Arctic Ocean in north-central Siberia."

Garrett Hellenthal, George B. J. Busby, Gavin Band, James F. Wilson, Cristian Capelli, Daniel Falush, and Simon Myers. "A Genetic Atlas of Human Admixture History." Science 343:6172 (February 14, 2014): pages 747-751. Companion website. 25 ethnic Russians had their genetics analyzed here. The researchers' GLOBETROTTER statistical tool found evidence of admixture of northeastern Asians into the ethnic Russian population. The website says:

"Here, we see that (in our analysis) modern Russians appear to be the result of two admixture events: one event a few hundred years ago between a population best represented by modern Eastern European populations, and one best represented in our sample by the Oroquen [a Tungusic-speaking people of northern China]; and a second, much older event. [...] very ancient East Asian ancestry prior to 500BC, in the case of Russia at least, and a recent event, consistent with approximately Mongol-empire era admixture, together contributing ~10% of DNA in [ethnic] Russians [...]"

"[The results are] consistent with our detecting a genetic legacy from invasions of peoples from the Asian steppes [...] during the first millennium CE [...]"

Iosif Lazaridis, Nick Patterson, Alissa Mittnik, Gabriel Renaud, Swapan Mallick, Karola Kirsanow, Peter H. Sudmant, Joshua G. Schraiber, Sergi Castellano, Mark Lipson, Bonnie Berger, Christos Economou, Ruth Bollongino, Qiaomei Fu, Kirsten I. Bos, Susanne Nordenfelt, Heng Li, Cesare de Filippo, Kay Prüfer, Susanna Sawyer, Cosimo Posth, Wolfgang Haak, Fredrik Hallgren, Elin Fornander, Nadin Rohland, Dominique Delsate, Michael Francken, Jean-Michel Guinet, Joachim Wahl, George Ayodo, Hamza A. Babiker, Graciela Bailliet, Elena Balanovska, Oleg Balanovsky, Ramiro Barrantes, Gabriel Bedoya, Haim Ben-Ami, Judit Bene, Fouad Berrada, Claudio M. Bravi, Francesca Brisighelli, George B. J. Busby, Francesco Cali, Mikhail Churnosov, David E. C. Cole, Daniel Corach, Larissa Damba, George van Driem, Stanislav Dryomov, Jean-Michel Dugoujon, Sardana A. Fedorova, Irene Gallego Romero, Marina Gubina, Michael Hammer, Brenna M. Henn, Tor Hervig, Ugur Hodoglugil, Aashish R. Jha, Sena Karachanak-Yankova, Rita Khusainova, Elza Khusnutdinova, Rick Kittles, Toomas Kivisild, William Klitz, Vaidutis Kučinskas, Alena Kushniarevich, Leila Laredj, Sergey Litvinov, Theologos Loukidis, Robert W. Mahley, Béla Melegh, Ene Metspalu, Julio Molina, Joanna Mountain, Klemetti Näkkäläjärvi, Desislava Nesheva, Thomas Nyambo, Ludmila Osipova, Jüri Parik, Fedor Platonov, Olga Posukh, Valentino Romano, Francisco Rothhammer, Igor Rudan, Ruslan Ruizbakiev, Hovhannes Sahakyan, Antti Sajantila, Antonio Salas, Elena B. Starikovskaya, Ayele Tarekegn, Draga Toncheva, Shahlo Turdikulova, Ingrida Uktveryte, Olga Utevska, René Vasquez, Mercedes Villena, Mikhail Voevoda, Cheryl A. Winkler, Levon Yepiskoposyan, Pierre Zalloua, Tatijana Zemunik, Alan Cooper, Cristian Capelli, Mark G. Thomas, Andres Ruiz-Linares, Sarah A. Tishkoff, Lalji Singh, Kumarasamy Thangaraj, Richard Villems, David Comas, Rem Sukernik, Mait Metspalu, Matthias Meyer, Evan E. Eichler, Joachim Burger, Montgomery Slatkin, Svante Pääbo, Janet Kelso, David Reich, and Johannes Krause. "Ancient human genomes suggest three ancestral populations for present-day Europeans." Nature 513 (September 18, 2014): pages 409-413. "Extended Data Figure 7: Evidence for Siberian gene flow into far north-eastern Europe" includes data from ethnic Russian samples. They found that Russians share some alleles with Han Chinese, but this tendency is less pronounced in the Russians than in the Chuvash and Saami.

Fulvio Cruciani, Roberta La Fratta, Beniamino Trombetta, Piero Santolamazza, Daniele Sellitto, Eliane Beraud Colomb, Jean-Michel Dugoujon, Federica Crivellaro, Tamara Benincasa, Roberto Pascone, Pedro Moral, Elizabeth Watson, Bela Melegh, Guido Barbujani, Silvia Fuselli, Giuseppe Vona, Boris Zagradisnik, Guenter Assum, Radim Brdicka, Andrey I. Kozlov, Georgi D. Efremov, Alfredo Coppa, Andrea Novelletto, and Rosaria Scozzari. "Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12." Molecular Biology and Evolution 24(6) (June 2007): pages 1300-1311. First published online on March 10, 2007. "Table 1: Frequencies (%) of the Y-chromosome E-M78 sub-haplogroups in the 81 populations analyzed" distinguishes Northern Russians from Southern Russians. Of 82 Northern Russian males studied, 3.66% belong to E-M78 and 3.66% to E-V13. Of 92 Southern Russian males, 2.17% belong to E-M78 and 2.17% to E-V13.

M. Mielnik-Sikorska, P. Daca, Marcin Woźniak, Boris Abramovich Malyarchuk, Miroslava V. Derenko, K. Skonieczna, and Tomasz Grzybowski. "The history of Slavs in the light of Y chromosome and mtDNA variability." A paper presented at the DNA in Forensics 2012 conference in Innsbruck, Austria between September 6-8, 2012. Includes mtDNA samples from Russians.


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