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

1
The genetics of the Finno-Ugric-speaking
populations in Europe
Toomas Kivisild
2
(No Transcript)
3
http//www.eki.ee/books/redbook/
4
?
From K. Wiik A new atlas on the origins and
early history of the Europeans 2003
5
From Galvani and Novembre 2005
General genetic homogeneity within Europe
CCR5-del
Stochastic patterns? Cases of selection? Pattern
s of migration?
6
Swedes Germans Finns French Russians
Russians Finns Saami Komi Chuvashis
Swedes Germans French
Circum-Uralic Finnic Ugric Samoyedic Turkic
Nganasans
Nenets
Khants/Mansis
Altaians Evenks Selkups
Siberian
Saami
mtDNA
Y
Tambets et al. 2004
7
Are there genetic differences between West and
East Eurasian populations? If yes, how did these
arise?
8
Out of Africa routes
Classical one northern route
Multiple dispersals
Multiple dispersals
One southern route
9
mtDNA tree in some detail
gt10
gt5
gt0.5
time
(pre-
scale
HV)1
East Africa
West Africa
S.Cent. Africa
Southeast Asia
Northeast Asia
Central Asia
South Asia
Estonians
S.W. Europe
Middle East
PNGAustralia
Native Americans
10
mtDNA tree in some detail
Population genetic structure without phylogeny
gt10
gt5
gt0.5
time
(pre-
scale
HV)1
East Africa
West Africa
S.Cent. Africa
Southeast Asia
Northeast Asia
Central Asia
South Asia
Estonians
S.W. Europe
Middle East
PNGAustralia
Native Americans
11
(No Transcript)
12
Phylogeographic evidence for out of Africa
M
N
R
MITOCHONDRIAL DNA
L3
75,000 BP
M
M2
M7
M8
D
M9
M13
M12
M21
50,000 BP
M10
D5
G
Q
D4
C
Z
E
M3
M4
M5
M6
M1
25,000 BP
gt10
gt5
gt0.5
NOW
EAST AFRICA
WEST AFRICA
S.
C. AFRICA
SOUTHEAST ASIA
NORTHEAST ASIA
CENTRAL ASIA
SOUTH ASIA
NORHTEAST EUROPE
SOUTHWEST EUROPE
MIDDLE EAST
AUSTRALASIA
NATIVE AMERICANS
HIGH MOLECULAR RESOLUTION (complete mtDNA
sequences) Similar structure for haplogroup R
(shared with Europe)
No nested structure between regions, suggesting
rapid dispersal
13
Nested structure of mtDNA haplogroup B4a1a
14
average diversity (rho-syn)
mtDNA
M
6.8 /- 0.8
R
6.2 /- 0.9
15
average diversity (rho-syn)
mtDNA
M
6.8 /- 0.8
EURPE
R
6.2 /- 0.9
16
Y chromosome tree
gt10
gt5
gt0.5
time
Q3
scale
East Africa
West Africa
S.Cent. Africa
Southeast Asia
Northeast Asia
Central Asia
South Asia
Estonians
S.W. Europe
Middle East
PNGAustralia
Native Americans
17
Clockwork problems
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
• gt use transversions to calibrate the clock
• infer relative clock for synonymous transitions
  at the intraspecies level

18
Kivisild et al. 2005
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 SW Asia - 18 SENE Asia 76 European -
39 N-Eur - 37 SC-Eur 13 Australia/PNG 16 Nat.
American
19
Distribution of mtDNA mutations as a function of
derived-allele frequency
20
Syn/nonsyn ratios ... By haplogroups
a average number of synonymous substitutions to
the root of the haplogroup
21
Coalescent dates of mtDNA haplogroups in Europe
22
(No Transcript)
23
Russians Finns Saami Komi Chuvashis
Swedes Germans French
Nganasans
Nenets
Khants/Mansis
Altaians Evenks Selkups
Y
24
Y chromosomal haplogroups
Nenets 57 N2 41 N3
Khants 38 N2 38 N3
Central Asia, Altay, Mongolia lt 5
N1 2-20 N2 0-20 N3
N3a
R1a
25
other
A
G
H
D
Khanty/Mansi
C
J
Nenets
Kets
N2b
Evenks
N1a
T1
U4
Selkups
T2
U5
U7
mitochondrial
R1a
N3
R1b
N2
Y chromosome
26
mtDNA haplogroup T1 in circum-Uralic populations
Khants/Mansis
27
mtDNA haplogroup N2b
28
Hungarians
Y
mtDNA
29
Swedes Germans Finns French Russians
Circum-Uralic Finnic Ugric Samoyedic Turkic
Saami
Siberian
mtDNA
30
mtDNA
Achilli et al. 2005
Yakut
Saami
Saami
Saami
Italian
Italian
Fulbe
Spanish
Berber
Tambets et al. 2004
31
U5b
N2b,U7
U5b
N2b,U7
Traditional pastoralist regions during the late
19th and early 20th centuries anthro.palomar.edu/s
ubsistence/sub_3.htm
32
mtDNA and Y
Africans
Non-African founders lt100ky
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)?
33
Rosenberg et al. 2002
34

• Autosomal evidence
• Most studies show higher variation in Africa
• Significantly less resolution

535,000119,000
Kaessman et al. 1999 - chromosome X
35
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
36
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