2. 1 2 3 4 5
6 7 8 9 10 11 12
13 14 15 16 17 18
19 20 21 22 X Y
We inherit one copy of each
chromosomal pair from our
mother and father
1-22 Autosomes
23rd pair: Sex Chromosomes
Our Genome: 6 Billion NucleoBdes/46 chromosomes/mtDNA
Mitochondrial DNA
mtDNA (~16.5 Kb)
3. A single nucleotide polymorphism
(SNP)– an alteration at a single site
in the DNA– is the most frequent type
of variation in the genome. Currently,
over 100 million SNPs have been
identified in the human genome.
DNA microarray technology (SNP array)
is used to detect SNPs within a
population. SNP arrays are able to
detect millions of different SNPs on all
chromosomes in hundreds of samples in
a single experiment.
Genome-wide Data: Single NucleoBde Polymorphism (SNP)
12. Concluded that Mesolithic hunter-gatherer Y chromosomes were nearly
replaced by those of incoming farmers (driven by improved technology—
farming)
Haplogroup R-M269 Expanded With Farming
Balaresque et al. (2010)
Dates of early Neolithic sites Frequency of Hg R-M269 STR diversity within Hg R-M269
Contemporary
Samples
Busby et al. (2012)
Current distribution is result of population dispersal after the Neolithic
expansion
Haplogroup R-M269 Expanded A&er Farming
Traditional view challenged
15. 1
2
3
4
1 Cave 1 of Treilles at St-
Jean et St Paul
(Aveyron, France)
5 kya (end of Neolithic)
2 Abellaner Cave
(Catalonia, Spain)
5 kya (Epicardial Culture;
end of Neolithic)
2013: First Look at Ancient Y Chromosomes (n=32)
3 Derenburg Cave
(Meerenstieg Germany)
7 kya (LBK)
4 Ötzi
5.3 kya
N=22
N=6
N=3
N=1
Ancient Graves from End of Neotlithic (7 to 5 Kya)
Catalonia
Aveyron
Meerens>eg
Ötzi
16. 1
2
3
4
G2a (20)
I2a (2)
G2a (5)
E1b1b1 (1)
G2a3 (1)
F*(xG,H,I,J,K) (2)
G2a4-L91
1 Cave 1 of Treilles at St-
Jean et St Paul
(Aveyron, France)
5 kya (end of Neolithic)
2 Abellaner Cave
(Catalonia, Spain)
5 kya (Epicardial Culture;
end of Neolithic)
2013: First Look at Ancient Y Chromosomes (n=32)
3 Derenburg Cave
(Meerenstieg Germany)
7 kya (LBK)
4 Ötzi
5.3 kya
Early Farmers carry Hg G
Hg R1b not found in ancient samples da:ng to ~5 Ky
17. 1 hunter-gatherer (~8 kya)
7 hunter-gatherers (~8 kya)
1 farmer (~7 kya)
Complete Genomes from Nine Ancient Europeans
Lazaridis et al. Nature (2014)
First study to fully
sequence genomes
of Neolithic and
Mesolithic
Europeans
2014
24 kya
genome
from Mal'ta
Siberia
18. • West European Hunter-Gatherer (WHG), based on an 8 kya
genomes from Loschbour, Luxembourg, and Motala, Sweden.
The WHG meta-population also includes a Mesolithic individual
from the La Brana Cave in Spain.
• Early European Farmer (EEF), based on a 7.5 kya genome from
Stuttgart, Germany belonging to the Neolithic LBK culture. The
EEF meta-population includes Oetzi the Iceman and a Neolithic
Funnelbeaker farmer from Sweden.
• Ancient North Eurasian (ANE), based on the 24 kya genome
from Mal'ta Siberia. The ANE meta-population also includes the
late Upper Paleolithic sample from Central Siberia called
Afontova Gora-2 (AG2).
Three Main European Ancestral Components
19. WHG (indigenous Europeans) 0-50%
EEF (Near Eastern origin) 32-93%
ANE (like ancient Siberians) 1-18%
3 Ancestral Components in Contemporary Europeans
• EEF component increases toward
the South—peaking at just over 80%
among Sardinians
• In contrast, WHG component
increases toward the North—
peaking in East Baltic region at
~50%.
• ‘ANE’ ancestry is present in nearly
all Europeans today—peaking in
Estonians & Scots at ~20%
• Importantly, ANE component is not
found in either farmers or HGs from
central and western Europe during
the NeolithicFirst Farmers only a mixture of 2 source popula:ons
N S
0"
10"
20"
30"
40"
50"
60"
70"
80"
90"
100"
Estonian"
Lithuanian"
Icelandic"
Sco<sh"
Norwegian"
Belarusian"
Ukranian"
Orcadian"
English"
Czech"
French"
CroaHan"
Hungarian"
Basque"
French"(S)"
Bulgarian"
Spanish"(N)"
Bergamo"
Tuscan"
Albanian"
Greek"
Spanish"
Sardinian"
Sicilian"
Maltese"
Ashkenazi"
ANE
WHG
EEF
20. 3. ANE ancestry
component entered
the broader European
gene pool ader the
Neolithic
New View: Three Source Migration Model
2. Second major infusion of people
comes with expansion of agriculture—
also from the Levant—beginning ~8 kya
1. Anatomically modern hunter-gatherers first
migrated into Europe ~45 kya from Africa
through the Levant
European Hunter-Gatherers
Early European Farmers
Ancient North Eurasians
21. Connecting the Dots: What does new model of European
ancestry based on autosomal DNA mean for the NRY?
• Which populaGon(s) carried the most common contemporary
NRY haplogroups into Europe and when?
• How does the ANE ancestry component seen in autosomal
DNA correspond to the NRY?
Mesolithic Hgs Contemporary Hgs
22. (~8kya)
(~8 kya)
All Five Mesolithic Y Chromosomes Belong to Haplogroup I
Lazaridis et al. Nature (2014)
First study to report NRY haplogroups of Mesolithic Europeans
Supports hypothesis that Hg I
was common in pre-agricultural
Europeans.
This haplogroup remains the
main candidate for Europe's
Paleolithic paternal heritage.
InteresGngly, three of the
results fell into haplogroup
I2a1b, and none into the
presently locally more common
I1.
Loschbour1: I2a1b
Motala2: I*(xI1, I2a2,CTS1293)
Motala3: I2a1b
Motala9: I*(xI1)
Motala12: I21ab
23. 1
2
3
N=22
N=6
N=3
N=1
1 Cave 1 of Treilles at St-Jean et
St Paul (Aveyron, France)
5kya (end of Neolithic)
2 Abellaner Cave (Catalonia,
Spain) 5kya (Epicardial Culture;
end of Neolithic)
2014: More Ancient Y Chromosomes
3 Derenburg Cave (Meerenstieg
Germany) 7kya (LBK)
4 Ötzi Chalcolithic
(5.3 kya)
5
5 Starčevo Culture and LBK
sites from Carpathian Basin
Hungary (7.6-7.0kya) (Neolithic)
N=14
6
7 Chalcolithic Bell Beaker
Kromsdorf, Germany (4.6kya
Copper Age)
N=2
7
6 Dolmen of La Pierre Fritte,
France (4.8kya) (Neolithic)
N=4
8 N=2
8 Corded Ware Eulau, Germany
(4.6kya)
9 Lichtenstein Cave, Dorste,
Germany Urnfield (3.0kya
Bronze Age)
9
N=14
10 Jagodno, Poland Chalcolithic
(4.8kya, Copper Age)
N=2
1111 Mesolithic Hunter-Gatherers
Motala, Sweden (8kya)
4
12 Mesolithic Hunter-Gatherer
Loschbour, Luxembourg
(8.2-7.9kya)
N=1
12
13 Mesolithic Hunter-Gatherer,
La Brana Valdelugueros, Spain
(7.0kya)
13 N=1
14 N=1
14 Pitted Ware Culture Gotland,
Sweden (Mesolithic 4.8-4.0kya)
15 Vinkovci and Vukovar Croatia
Starčevo Culture (7.6kya) (LBK)
15 N=3
10 N=2
W. Hunter-Gatherer
Near Eastern Farmer
Copper-Bronze Age
24. 1
2
3
5
6
7
2 I*
1 I2
1 I2a1b*
8
9
11 I2a2b
2 R1a1
1 R1b (M343)
10
1111 Mesolithic Hunter-Gatherers
Motala, Sweden (8kya)
4
12 Mesolithic Hunter-Gatherer
Loschbour, Luxembourg
(8.2-7.9kya)
12
13 Mesolithic Hunter-Gatherer,
La Brana Valdelugueros, Spain
(7.0kya)
13
14
14 Pitted Ware Culture Gotland,
Sweden (Mesolithic 4.8-4.0kya)
15 Vinkovci and Vukovar Croaita
Starčevo Culture (7.6kya) (LBK)
15
20 G2a
2 I2a
5 G2a
1 E1b1b1
1 G2a3
2 F*(xG,H,I,J,K)
G2a2b
2 I2a
1 C1a2
1 G
1 I or J?
2 R1b (M269, M343)
2 R1a
1 I2a1b*
1 I2a
1 G2
3 G2a
4 G2a2b
2 F*
1 I
1 I1
2 G2a
1 I2a1
1 Cave 1 of Treilles at St-Jean et
St Paul (Aveyron, France)
5kya (end of Neolithic)
2 Abellaner Cave (Catalonia,
Spain) 5kya (Epicardial Culture;
end of Neolithic)
3 Derenburg Cave (Meerenstieg
Germany) 7kya (LBK)
4 Ötzi Chalcolithic
(5.3 kya)
5 Starčevo Culture and LBK
sites from Carpathian Basin
Hungary (7.6-7.0kya) (Neolithic)
7 Chalcolithic Bell Beaker
Kromsdorf, Germany (4.6kya
Copper Age)
6 Dolmen of La Pierre Fritte,
France (4.8kya) (Neolithic)
8 Corded Ware Eulau, Germany
(4.6kya)
9 Lichtenstein Cave, Dorste,
Germany Urnfield (3.0kya
Bronze Age)
10 Jagodno, Poland Chalcolithic
(4.8kya, Copper Age)
Mesolithic
HG
Neolithic
Farmers
Metal
Age
F 2
C 1
I1 1 1
I*/I2 5 7 11
G 37 1
R1b 3
R1a 4
E 1
6 48 20
2014: More Ancient Y Chromosomes
1st R1b!
25. Mesolithic Neolithic Metal Present
Thousands of Years Ago
8 7 6 5 4 3 2 1 0
Ancient NRY Haplogroup Frequencies
N=6 N=48 N=20
I
G
R1b
26. Who were the ANE and how did they make such a large
contribution to the European Gene Pool?
• Two laboratories published papers in the same issue of Nature in
June of 2015- both reaching the same conclusion. Massive
migrations from the Russian Steppe in the Bronze Age represent
the third major source of genetic material found in Europeans today
• They extracted genetic material from bones and teeth collected
from across Europe and as far east as Lake Baikal in Siberia. The
age of the bones spanned five millennia, from 8,000 to 2,900 Ya
• To get the 170 samples, they had to test >700 samples for DNA
quality. All of the samples that they ultimately used for analysis had
a well-documented archaeological context with radio carbon dates
2015
28. Genomics Supports Steppe Contribution to Bronze Age Europe
HG component
Farmer component
Steppe component
Willerslev Team
~8 Kya ~3 Kya ~5 kya ~2.8 kya
Bronze Age Steppe Neolithic
farmers
Bronze Age Europeans
Mesolithic
HG
• Neolithic Europeans composed of HG and farmer mixture
• Bronze Age Europeans have added ‘Pastoralist’ component suggested
to derive from Yamnaya culture from the Pontic-Caspian steppe
• Neolithic farmer component is absent in Yamnaya
Yamnaya
30. New View: Steppe Contribution to Europe
2. Second major infusion of people
comes with expansion of agriculture
—also from the Levant
1. Anatomically modern hunter-
gatherers first migrated into Europe
~45 kya from Africa through the Levant
European Hunter-Gatherers
Early European Farmers
Bronze Age Steppe Pastoralists
3. Steppe component entered broader
European gene pool ader Neolithic
After 7,000 years ago
31. Connecting the Dots: What do the new Autosomal data mean for
the NRY (and mtDNA)?
• Which populaGon(s) carried the most common contemporary
NRY haplogroups into Europe and when?
• How does the Yamnaya ancestry component seen in autosomal
DNA correspond to the NRY and mtDNA?
Mesolithic Hgs Contemporary Hgs
32. • In Europe, only a single R1b individual found before Late Neolithic
• By contrast, R1a and R1b found in 60% of Bronze Age Europeans
• Highest frequency of R1b found in Copper Age Yamnaya of Russian Steppe - same
population that contributed autosomal Steppe component to Bronze Age Europeans
• Combined results suggest that R1b spread into central and western Europe from the
steppe after 5 kya
Origin of European R1b
Europe
Yamnaya
Asia &
Russian
Steppe
Bronze Age
R1b
R1b
R1a
G2a
I/I2
I/I2 I/I2
R1b
R1a
C
I/I2
33. Cassidy et al. (2016)
Neolithic and Bronze Age Genes Established Ireland by 4 kya
Neolithic
Irish
woman
3 Irish
Bronze
Age men
All 3 Bronze Age men carried Hg R1b Y chromosomes
Hunter-gatherer (WHG)
Early Farmer (EEF)
Metal Age (Steppe)
34. Combined evidence supports hypothesis that the current
distribution of Hg R1b lineages in western Europe is the
result of major population movements during the Metal
Ages.
Populations carrying R1b chromosomes appear to have
nearly displaced western European Neolithic Y
chromosomes
What conferred advantage to post-Neolithic Steppe
invaders?
Ancient DNA Supports Recent Spread of Hg R1b
across western Europe
36. “By about 3300 years ago people
across Europe were raging war in
different ways. Thrusting weapons
like the rapier were preplaced by
edged weapons for slashing.
Heavily armed horsemen, the
warrior elites, used these weapons
together with spears in group
combat. Strong regional identities
are reflected in styles of arms and
armour at this time.
The many hoards of weapons found
provide graphic evidence of the
armed struggle for wealth, property
and power. Some of these are the
personal hoards of arms possibly
buried as offerings to the gods.”
British Museum
Personal set of bronze arms
(Late Bronze Age)
