The genetics of the Finno-Ugric- speaking populations in Europe Toomas Kivisild

From K. Wiik “A new atlas on the origins and early history of the Europeans” 2003 ?

CCR5-del General genetic homogeneity within Europe Stochastic patterns? Cases of selection? Patterns of migration? From Galvani and Novembre 2005

mtDNA Y Swedes Germans Finns French Russians Saami Circum-Uralic Finnic Ugric Samoyedic Turkic Siberian Swedes Germans French Russians Finns Saami Komi Chuvashis Khants/Mansis Nenets Nganasans Altaians Evenks Selkups Tambets et al. 2004

Are there genetic differences between West and East Eurasian populations? If yes, how did these arise?  Continuity/replacement Multiple/single

Out of Africa routes Classical one northern route Multiple dispersalsOne southern route Multiple dispersals

East Africa West Africa S.&Cent. Africa Southeast Asia Northeast Asia Central Asia South Asia Estonians S.&W. Europe Middle East PNG&Australia Native Americans >10% >5% >0.5% time scale (pre- HV)1 mtDNA tree in some detail

East Africa West Africa S.&Cent. Africa Southeast Asia Northeast Asia Central Asia South Asia Estonians S.&W. Europe Middle East PNG&Australia Native Americans >10% >5% >0.5% time scale (pre- HV)1 mtDNA tree in some detail Population genetic structure without phylogeny

No nested structure between regions, suggesting rapid dispersal Phylogeographic evidence for out of Africa HIGH MOLECULAR RESOLUTION (complete mtDNA sequences) Similar structure for haplogroup R (shared with Europe) L3 >10% >5% >0.5% 25,000 BP 50,000 BP 75,000 BP EAST AFRICA WEST AFRICA S.&C. AFRICA SOUTHEAST ASIA NORTHEAST ASIA CENTRAL ASIA SOUTH ASIA NORHTEAST EUROPE SOUTHWEST EUROPE MIDDLE EAST AUSTRALASIA NATIVE AMERICANS NOW MITOCHONDRIAL DNA M1 M M2 M3 M4M5M6 M7 M8 CZ E M9 M10 D D4 D5 M13 G M21 Q M12 M N R

Nested structure of mtDNA haplogroup B4a1a

mtDNA M R average diversity (rho-syn) 6.8 +/ /- 0.9

mtDNA M R average diversity (rho-syn) 6.8 +/ /- 0.9 EURPE

East Africa West Africa S.&Cent. Africa Northeast Asia Central Asia South Asia Estonians S.&W. Europe Middle East PNG&Australia Native Americans Southeast Asia >10% >5% >0.5% time scale Q3 Y chromosome tree

Ho et al. 2005: discrepancies between inter and intraspecies clocks In our study: -1/3 sites shared with chimp – extensive saturation of transitions at the interspecies level - non-synonymous sites can be affected by selection -> use transversions to calibrate the clock - infer relative clock for synonymous transitions at the intraspecies level Clockwork problems

mtDNA tree of 277 globally selected samples 129 African - 34 West African -16 South African -15 East African - 15 Mbuti Pygmy - 10 Biaka Pygmy - 37 Dominican 43 Asian - 25 S&W Asia - 18 SE&NE Asia 76 European - 39 N-Eur - 37 S&C-Eur 13 Australia/PNG 16 Nat. American Kivisild et al. 2005

Distribution of mtDNA mutations as a function of derived-allele frequency

Syn/nonsyn ratios... By haplogroups a – average number of synonymous substitutions to the root of the haplogroup

Coalescent dates of mtDNA haplogroups in Europe

Y Swedes Germans French Russians Finns Saami Komi Chuvashis Khants/Mansis Nenets Nganasans Altaians Evenks Selkups

R1a N3a Y chromosomal haplogroups Nenets: 57% N2 41% N3 Khants: 38% N2 38% N3 Central Asia, Altay, Mongolia: < 5 % N1 2-20% N2 0-20% N3

H J U4 U5 U7 T2 other T1 N1a N2b C D G A Khanty/Mansi mitochondrial Y chromosome Sel’kups Kets Evenks Nenets N3 N2 R1b R1a

mtDNA haplogroup T1 in circum-Uralic populations Khants/Mansis

mtDNA haplogroup N2b

Hungarians mtDNA Y

Swedes Germans Finns French Russians Saami Circum-Uralic Finnic Ugric Samoyedic Turkic Siberian

mtDNA Achilli et al Tambets et al Saami Yakut Fulbe Berber Spanish Italian

Traditional pastoralist regions during the late 19th and early 20th centuries anthro.palomar.edu/subsistence/sub_3.htm U5b N2b,U7

mtDNA and Y AfricansNon-African founders <100ky Do autosomal genes support recent African origin? Are there separate founders for “East” and “West”? Are there significant differences between Eastern and Western Europe (distinction of FU-s)?

Rosenberg et al. 2002

Autosomal evidence Most studies show higher variation in Africa Significantly less resolution A few exceptions (e.g. Melanocortin) but also: Kaessman et al chromosome X English-Tamil-Philippine Georgian-Chukchi-Abor.Australian Chinese-Papuan (1 non-Asian/20) German-Papuan Estonian-Papuan 535,000±119,000

Conclusions FU substantial genetic share w neighboring populations Affinities rather by geography than languaqe Population approach: admixture W-E; drift Lineage approach: a number of distinct histories Autosomes’ resolution: mutation rate & recombination

Acknowledgements Kristiina Tambets Siiri Rootsi Jüri Parik Ene Metspalu Georgi Hudjashov Maere Reidla Erwan Pennarun Richard Villems Elsa K. Khusnutdinova Ildus Kutuev Ludmilla P. Osipova Sardana Fedorova Marina A. Bermisheva Larissa Tamba Mikhail.I. Voevoda Marina A Gubina Maria Golubenko Vadim Stepanov Sandor Füredi