Origins of R-M269 Diversity in Europe - DNA-testing for ...€¦ · Busby et al. (2012) •...
Transcript of Origins of R-M269 Diversity in Europe - DNA-testing for ...€¦ · Busby et al. (2012) •...
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Michael Hammer University of Arizona
FamilyTreeDNA 9th Annual Conference
Origins of R-M269 Diversity in Europe
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The R-M269 clade: Where We Were in
2010
Hg R1b
M269
P311
M312
U106
L21
U152
SRY2627
U198
L23
P107 L11
L49
*
* *
*
L1
L48
M65
M153
M126
M160
L2 L20
L4
M37
M222
P66
*
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*
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b
a
b c
c
d
1 1
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The R-M269 clade: Where We Are in
2013
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L48U106
P311 L21M269 L11
P312 Z195
U152
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3 Major Expansions into Europe
• First anatomically modern humans (AMH) from Africa ~45,000 years ago
• After Last Glacial Maximum out of southern refugia ~17,000 years ago (Paleolithic hunter-gatherers)
• Neolithic Farmers from the Near East beginning ~10,000 years ago
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Neolithic: Genes Farmers Replaced Those of Hunter-Gatherers (Diamond & Bellwood 2003)
• 9 homelands of agriculture and herding (10.5 - 4.5 kya) • Food Production confers enormous advantage to farmers vs hunter-gatherers • Triggered outward dispersals of farming populations
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Europe: The Controversy The relative contributions to modern European populations of Paleolithic hunter-gatherers and Neolithic farmers from the Near East have been intensely debated. Haplogroup R-M269 is the most common European Y-chromosomal lineage, increasing in frequency from east to west, and carried by 110 million European men. Previous studies suggested a Paleolithic origin; however, two recent studies agree that this haplogroup has a more recent origin in Europe—yet they disagree on the timing of its spread.
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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
5,500 TMRCA 7,500
• Argued that geographical distribution of STR diversity on the background of R-M269 is best explained by spread from a single source in the Near East via Anatolia during the Neolithic.
• Concluded that Y chromosomes of Mesolithic hunter-gatherers were nearly replaced by those of incoming farmers, highlighting Europe as a prime example of link between technological/cultural change and expansion of a Y-chromosomal lineage.
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A Cautionary Tale of Y Chromosome Lineage R-M269 Busby et al. (2012)
• Performed largest study of R1b chromosomes and associated STR diversity to date (N=6,503)
• Contrary to the results of Balaresque, they saw no relationship between diversity and longitude for R-M269—a central tenet to hypothesis that R-M269 spread with expanding Neolithic farmers.
• Could not make credible estimates of the STR-based TMRCA of R-M269
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M269 P311
M269 P311
M269 P311
M269 M269(xP311) P311
Near Eastern Origin, European Expansion of R Lineages
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R-P311 originated prior to the Neolithic wave of expansion and was spread during the expansion • Predicts higher diversity in the east closer to the
origins of agriculture (not observed). R-P311 originated more recently and its current distribution is result of major population movements after the Neolithic expansion.
Alternate Hypotheses: Timing of Hg R Expansion in Europe
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1
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ON=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)
Ancient Y Chromosomes From the Neolithic
3 Derenburg Cave (Meerenstieg Germany) 7kya (LBK)
4 Ötzi 5.3 kya
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O20 G2a 2 I2a
5 G2a 1 E1b1b1
1 G2a3 2 F*(xG,H,I,J,K)
G2a4-L91
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)
Ancient Y Chromosomes From the Neolithic
3 Derenburg Cave (Meerenstieg Germany) 7kya (LBK)
4 Ötzi 5.3 kya
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1 Cave 1 of Treilles at St-Jean et St Paul (Aveyron, France) 5kya (end of Neolithic)
Ancient Y Chromosomes From the Neolithic
Latitude, Longitude N R1b (%) 1. 43.83, 5.43 38 60.5 2. 45.78, 3.08 89 52.8 3. 43.30, 5.38 45 53.3
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Frequency difference is highly statistically significant
R1b other total Modern 94 78 172 Ancient 0 22 22
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1
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O
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)
Ancient Y Chromosomes From the Neolithic
3 Derenburg Cave (Meerenstieg Germany) 7kya (LBK)
4 Ötzi 5.3 kya
Sample n R1b Frequency (%)
Ancient 32 0 0 Modern 2410 1400 58
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Combined evidence supports hypothesis that the current distribution of the R-P311 lineage is the result of major population movements occurring after the Neolithic agricultural transition. Populations carrying R-P311 chromosomes appear to have nearly displaced western European Neolithic Y chromosomes. What conferred advantage to post-Neolithic men?
Evidence Supports a Recent Spread of Hg R Lineages in Europe
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U106 L21 U152
Localized Distributions of R-U106, R-L21, and R-U152
Radial distributions with epicenters in specific locations: 60% of R in C. Europe is U106-derived, 50% of R in southern Europe is U152-derived, and 45% of R in Great Britain is L21-derived Pattern suggests differentiation across Europe via multiple geographic centers of expansion.
44% Friesland
70% Ireland
25% Alps
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Archeological analysis of Neolithic sites across Europe reveals that the spread of the Neolithic was not constant. Several ‘centers of renewed expansion’ are visible across Europe, representing areas of colonization, three of which map closely to the centers of sub-haplogroup foci.
Post-Neolithic Centers of Renewed Expansion Hypothesis
L21 U152 U106
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M269
P311 P312
Z195
L21
U152
U106
L48U106
P311 L21M269 L11
P312 Z195
U152
Post-Neolithic Centers of Renewed Expansion
SRY2627
M222
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Global Distribution of Hg R
SE Asian Origin of
Hg P
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Early Neolithic (8000-7000 ya)
R1b appears in western Eurasia by early Neolithic
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Early-Mid Bronze Age (4500-4000 ya)
Major Metal Age Expansions
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Late Bronze/Early Iron Age (3200-3000 ya)
U152
Period of Differentiation in
Centers of Renewed Expansion
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DF23
Z253
CTS11722
DF21
L513
CTS4466 Z255
CTS2501
DF23
Z253 CTS11722
DF21
L513
CTS4466
Z255
CTS2501 CTS3386 CTS2457
DF23
Z253
CTS11722
DF21
L513
CTS4466
Z255
CTS3386
Ireland (N=127)
Scotland (N=62)
England (N=20)
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Tanya Karafet
Fernando Mendez
Nick Lerman Bennett Greenspan
Elliott Greenspan