To shed more light on the processes leading to crystallization of a Slavic identity, we investigated variability of complete mitochondrial genomes belonging to haplogroups H5 and H6 (63 mtDNA genomes) from the populations of Eastern and Western Slavs, including new samples of Poles, Ukrainians and Czechs presented here. Molecular dating implies formation of H5 approximately 11.5-16 thousand years ago (kya) in the areas of southern Europe. Within ancient haplogroup H6, dated at around 15-28 kya, there is a subhaplogroup H6c, which probably survived the last glaciation in Europe and has undergone expansion only 3-4 kya, together with the ancestors of some European groups, including the Slavs, because H6c has been detected in Czechs, Poles and Slovaks. Detailed analysis of complete mtDNAs allowed us to identify a number of lineages that seem specific for Central and Eastern Europe (H5a1f, H5a2, H5a1r, H5a1s, H5b4, H5e1a, H5u1, some subbranches of H5a1a and H6a1a9). Some of them could possibly be traced back to at least ∼4 kya, which indicates that some of the ancestors of today's Slavs (Poles, Czechs, Slovaks, Ukrainians and Russians) inhabited areas of Central and Eastern Europe much earlier than it was estimated on the basis of archaeological and historical data. We also sequenced entire mitochondrial genomes of several non-European lineages (A, C, D, G, L) found in contemporary populations of Poland and Ukraine. The analysis of these haplogroups confirms the presence of Siberian (C5c1, A8a1) and Ashkenazi-specific (L2a1l2a) mtDNA lineages in Slavic populations. Moreover, we were able to pinpoint some lineages which could possibly reflect the relatively recent contacts of Slavs with nomadic Altaic peoples (C4a1a, G2a, D5a2a1a1).

Department of Molecular and Forensic Genetics Bydgoszcz Institute of Forensic Medicine Ludwik Rydygier Collegium Medicum Nicolaus Copernicus University Bydgoszcz Poland

Zobrazit více v PubMed

Barford PM (2001) The early Slavs: culture and society in early medieval Eastern Europe. London, British Museum.

Mallory JP (1989) In search of the Indo-Europeans: language, archaeology, and myth. New York, N.Y., Thames and Hudson.

Gołąb Z (1992) The origins of the Slavs: a linguist's view. Columbus, Ohio, Slavica Publishers, Inc. (In Polish).

Curta F (2001) The making of the Slavs. History and archaeology of the Lower Danube Region, ca. 500–700. Cambridge studies in medieval life and thought Fourth series, 52. Cambridge; New York, Cambridge University Press: xxv, 463 p.

Kaczanowski P, Parczewski M (2005) Archaeology on the origins of the Slavs: Proceedings of the conference, Cracow, 19–21st November, 2001. Cracow, Academic Library (In Polish).

Buko A (2006) Polish archeology of early Middle Ages: findings, hypotheses, interpretations. Warsaw, Trio. (In Polish).

Kostrzewski J, Chmielewski W, Jazdzewski K (1965) The prehistory of Poland. Wroclaw, The Ossolineum (In Polish).

Sedov VV (1979) Origin and early history of Slavs. Moscow: Nauka (in Russian).

Godłowski K (2000) The first settlements of the Slavs. Cracow, Institute of Archeology, Jagiellonian University (In Polish).

Piontek J (2006) The Ethnogenesis of the Slavs in the light of recent antropological studies. Slavia Antiqua 47: 161–189 (In Polish)..

Piontek J (2008) Anthropological studies of the Slavic ethnogenesis. Kaczanowski (red.) The century of the Jagiellonian University Institute of Archeology, 1908–2008: anniversary book. Cracow, Wydawnictwo Plus: 175–189.

Soares P, Achilli A, Semino O, Davies W, Macaulay V, et al. (2010) The archaeogenetics of Europe. Curr Biol 20: R174–183. PubMed

Orekhov V, Poltoraus A, Zhivotovsky LA, Spitsyn V, Ivanov P, et al. (1999) Mitochondrial DNA sequence diversity in Russians. FEBS Lett 445: 197–201. PubMed

Malyarchuk BA, Derenko MV (2001) Mitochondrial DNA variability in Russians and Ukrainians: implication to the origin of the Eastern Slavs. Ann Hum Genet 65: 63–78. PubMed

Malyarchuk BA, Grzybowski T, Derenko MV, Czarny J, Woźniak M, et al. (2002) Mitochondrial DNA variability in Poles and Russians. Ann Hum Genet 66: 261–283. PubMed

Malyarchuk BA, Grzybowski T, Derenko MV, Czarny J, Drobnič K, et al. (2003) Mitochondrial DNA variability in Bosnians and Slovenians. Ann Hum Genet 67: 412–425. PubMed

Malyarchuk BA, Derenko M, Grzybowski T, Lunkina A, Czarny J, et al. (2004) Differentiation of mitochondrial DNA and Y chromosomes in Russian populations. Hum Biol 76: 877–900. PubMed

Belyaeva O, Bermisheva M, Khrunin A, Slominsky P, Bebyakova N, et al. (2003) Mitochondrial DNA variations in Russian and Belorussian populations. Hum Biol 75: 647–660. PubMed

Vanecek T, Vorel F, Sip M (2004) Mitochondrial DNA D-loop hypervariable regions: Czech population data. Int J Legal Med 118: 14–18. PubMed

Zupanič Pajnič I, Balažic J, Komel R (2004) Sequence polymorphism of the mitochondrial DNA control region in the Slovenian population. Int J Legal Med 118: 1–4. PubMed

Branicki W, Kalista K, Kupiec T, Wolańska-Nowak P, Zołedziewska M, et al. (2005) Distribution of mtDNA haplogroups in a population sample from Poland. J Forensic Sci 50: 732–733. PubMed

Piechota J, Tońska K, Nowak M, Kabzińska D, Lorenc A, et al. (2004) Comparison between the Polish population and European populations on the basis of mitochondrial morphs and haplogroups. Acta Biochim Pol 51: 883–895. PubMed

Grzybowski T, Malyarchuk BA, Derenko MV, Perkova MA, Bednarek J, et al. (2007) Complex interactions of the Eastern and Western Slavic populations with other European groups as revealed by mitochondrial DNA analysis. Forensic Sci Int Genet 1: 141–147. PubMed

Pereira L, Richards M, Goios A, Alonso A, Albarrán C, et al. (2005) High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Genome Res 15: 19–24. PubMed PMC

Roostalu U, Kutuev I, Loogväli EL, Metspalu E, Tambets K, et al. (2007) Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective. Mol Biol Evol 24: 436–448. PubMed

Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, et al. (2004) The molecular dissection of mtDNA haplogrop H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75: 910–918. PubMed PMC

Loogväli EL, Roostalu U, Malyarchuk BA, Derenko MV, Kivisild T, et al. (2004) Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol 21: 2012–2021. PubMed

Brandstätter A, Zimmermann B, Wagner J, Göbel T, Röck AW, et al. (2008) Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East. BMC Evol Biol 8: 191. PubMed PMC

Alvarez-Iglesias V, Mosquera-Miguel A, Cerezo M, Quintáns B, Zarrabeitia MT, et al. (2009) New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0. PLoS ONE 4: e5112. PubMed PMC

Malyarchuk BA, Vanecek T, Perkova MA, Derenko MV, Sip M (2006) Mitochondrial DNA variability in the Czech population, with application to the ethnic history of Slavs. Hum Biol 78: 681–696. PubMed

Pereira L, Richards M, Goios A, Alonso A, Albarrán C, et al. (2006) Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale. Forensic Sci Int 159: 43–50. PubMed

Malyarchuk BA, Perkova MA, Derenko M, Vanecek T, Lazur J, et al. (2008) Mitochondrial DNA variability in Slovaks, with application to the Roma origin. Ann Hum Genet 72: 228–240. PubMed

Malyarchuk BA, Derenko M, Perkova M, Grzybowski T, Vanecek T, et al. (2008) Reconstructing the phylogeny of African mitochondrial DNA lineages in Slavs. Eur J Hum Genet 16: 1091–1096. PubMed

Derenko M, Malyarchuk B, Grzybowski T, Denisova G, Rogalla U, et al. (2010) Origin and post-glacial dispersal of mitochondrial DNA haplogroups C and D in northern Asia. PLoS ONE 5: e15214. PubMed PMC

Derenko M, Malyarchuk B, Denisova G, Perkova M, Rogalla U, et al. (2012) Complete mitochondrial DNA analysis of eastern Eurasian haplogroups rarely found in populations of northern Asia and eastern Europe. PLoS ONE 7: e32179. PubMed PMC

Brandstätter A, Salas A, Niederstätter H, Gassner C, Carracedo A, et al. (2006) Dissection of mitochondrial superhaplogroup H using coding region SNPs. Electrophoresis 27: 2541–2550. PubMed

Torroni A, Rengo C, Guida V, Cruciani F, Sellitto D, et al. (2001) Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am J Hum Genet 69: 1348–1356. PubMed PMC

Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, et al. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23: 147. PubMed

van Oven M, Kayser M (2009) Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 30: E386–394. PubMed

Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, et al. (2003) Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A 100: 171–176. PubMed PMC

Kivisild T, Shen P, Wall DP, Do B, Sung R, et al. (2006) The role of selection in the evolution of human mitochondrial genomes. Genetics 172: 373–387. PubMed PMC

Soares P, Ermini L, Thomson N, Mormina M, Rito T, et al. (2009) Correcting for purifying selection: an improved human mitochondrial molecular clock. Am J Hum Genet 84: 740–759. PubMed PMC

Guindon S, Dufayard JF, Lefort V, Anisimova M, Hordijk W, et al. (2010) New algorithms and methods to estimate maximum-likelihood phylogenies: assessing the performance of PhyML 3.0. Syst Biol 59: 307–321. PubMed

Howell N, Smejkal CB, Mackey DA, Chinnery PF, Turnbull DM, et al. (2003) The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates. Am J Hum Genet 72: 659–6570. PubMed PMC

Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, et al. (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Legal Med 118: 137–146. PubMed

Behar DM, van Oven M, Rosset S, Metspalu M, Loogväli EL, et al. (2012) A “Copernican” reassessment of the human mitochondrial DNA tree from its root. Am J Hum Genet 90: 675–684. PubMed PMC

Greenspan (2008) Family Tree DNA Project.

Richards MB, Macaulay VA, Bandelt HJ, Sykes BC (1998) Phylogeography of mitochondrial DNA in western Europe. Ann Hum Genet 62: 241–260. PubMed

Barbujani G, Goldstein DB (2004) Africans and Asians abroad: genetic diversity in Europe. Annu Rev Genomics Hum Genet 5: 119–150. PubMed

Pala M, Achilli A, Olivieri A, Hooshiar Kashani B, Perego UA, et al. (2009) Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians. Am J Hum Genet 84: 814–821. PubMed PMC

Malyarchuk B, Grzybowski T, Derenko M, Perkova M, Vanecek T, et al. (2008) Mitochondrial DNA phylogeny in Eastern and Western Slavs. Mol Biol Evol 25: 1651–1658. PubMed

Malyarchuk B, Derenko M, Grzybowski T, Perkova M, Rogalla U, et al. (2010) The peopling of Europe from the mitochondrial haplogroup U5 perspective. PLoS ONE 5: e10285. PubMed PMC

Underhill PA, Myres NM, Rootsi S, Metspalu M, Zhivotovsky LA, et al. (2010) Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a. Eur J Hum Genet 18: 479–484. PubMed PMC

Alekseeva TI (2002) Estern Slavs. Anthropology and ethnic history. Moskva, Nauč. nyj Mir,.

Karachanak S, Carossa V, Nesheva D, Olivieri A, Pala M, et al. (2012) Bulgarians vs the other European populations: a mitochondrial DNA perspective. Int J Legal Med 126: 497–503. PubMed

Lappalainen T, Laitinen V, Salmela E, Andersen P, Huoponen K, et al. (2008) Migration waves to the Baltic Sea region. Ann Hum Genet 72: 337–348. PubMed

Derenko M, Malyarchuk B, Grzybowski T, Denisova G, Dambueva I, et al. (2007) Phylogeographic analysis of mitochondrial DNA in northern Asian populations. Am J Hum Genet 81: 1025–1041. PubMed PMC

Malyarchuk B, Derenko M, Denisova G, Kravtsova O (2010) Mitogenomic diversity in Tatars from the Volga-Ural region of Russia. Mol Biol Evol 27: 2220–2226. PubMed

Chandrasekar A, Kumar S, Sreenath J, Sarkar BN, Urade BP, et al. (2009) Updating phylogeny of mitochondrial DNA macrohaplogroup m in India: dispersal of modern human in South Asian corridor. PLoS ONE 4: e7447. PubMed PMC

Kong QP, Bandelt HJ, Sun C, Yao YG, Salas A, et al. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet 15: 2076–2086. PubMed

Metspalu M, Kivisild T, Bandelt HJ, Richards M, Villems R (2006) The pioneer settlement of modern humans in Asia. In: Bandelt HJ, Macaulay V, Richards M (red.) Human mitochondrial DNA and the evolution of Homo sapiens. Springer-Verlag, Heidelberg, 181–199.

Salas A, Richards M, De la Fe T, Lareu MV, Sobrino B, et al. (2002) The making of the African mtDNA landscape. Am J Hum Genet 71: 1082–1111. PubMed PMC

Salas A, Richards M, Lareu MV, Scozzari R, Coppa A, et al. (2004) The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet 74: 454–465. PubMed PMC

Cerezo M, Achilli A, Olivieri A, Perego UA, Gómez-Carballa A, et al. (2012) Reconstructing ancient mitochondrial DNA links between Africa and Europe. Genome Res 22: 821–826. PubMed PMC

Behar DM, Hammer MF, Garrigan D, Villems R, Bonne-Tamir B, et al. (2004) MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population. Eur J Hum Genet 12: 355–364. PubMed

Behar DM, Metspalu E, Kivisild T, Achilli A, Hadid Y, et al. (2006) The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event. Am J Hum Genet 78: 487–497. PubMed PMC

Cancer Predisposition Genes in Cancer-Free Families

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

60,000 years of interactions between Central and Eastern Africa documented by major African mitochondrial haplogroup L2