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Hammer FTDNA 2016

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Hammer FTDNA 2016

  1. 1. 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)
  2. 2. 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)
  3. 3. Genome-wide Data: RelaBonships among Present-Day PopulaBons PCA Admixture Dendrogam or PopulaBon Tree Individual “Ancestry” ProporBons
  4. 4. Anatomically Modern Humans: African Origin and Global Diaspora ~60 Kya ~3 Kya Hunter-Gatherer Dispersals
  5. 5. Did Neolithic farmers genetically replace Hunter-gatherers? •  9 homelands of agriculture and herding (10.5 - 4.5 kya) •  Food ProducGon confers enormous advantage to farmers over hunter-gatherers (Diamond & Bellwood 2003)
  6. 6. TradiBonal View: 2 Major Expansions into Europe 7 kya •  First anatomically modern humans (AMH) from Africa ~45,000 years ago •  Neolithic Farmers from the Near East beginning 7,000-10,000 years ago 45 kya
  7. 7. Genome-wide Data Support Europe as a Mixture of Two PopulaBons Skoglund et al. (2012) Sikora et al. (2014) Contemporary Samples
  8. 8. Hg G Hg R Hg I European Y Chromosomes: Major Haplogroups
  9. 9. R1b clade: Most common paternal lineage in W. Europe 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 * * * a a a b a b c c d 1 1 3 3 4 4 5 * 1 1 2 2
  10. 10. Europe: The Hg R1b Controversy Traditionally believed to be of Paleolithic (Hunter- Gatherer) origin •  Carried by >110 million European men •  Increases in frequency from east to west
  11. 11. 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
  12. 12. Indirect approach §  Examine paZerns of geneGc variaGon in contemporary humans and infer past Direct approach §  Recover DNA sequences from ancient material and compare across different Gme frames Able to infer whether contemporary people descend from long-term inhabitants of a region, or from people who arrived from elsewhere—replacing or admixing with previous inhabitants Importance of Ancient DNA in ReconstrucBng European PopulaBon History
  13. 13. 0 20 40 60 80 100 120 140 160 180 1 2 3 2013 2014 2015 Number of Ancient European DNA Samples
  14. 14. 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
  15. 15. 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
  16. 16. 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
  17. 17. •  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
  18. 18. 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
  19. 19. 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
  20. 20. 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
  21. 21. (~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
  22. 22. 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
  23. 23. 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!
  24. 24. 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
  25. 25. 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
  26. 26. low-coverage genomes from 101 ancient Eurasians genome-wide data from 69 ancient Europeans David Reich Eske Willerslev
  27. 27. 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
  28. 28. Yamnaya geneBc contribuBon to Neolithic European Gene Pool Reich Team Western European Hunter-Gatherer Early Neolithic Farmer Yamnaya Pastoralist Ancient Modern All European populations considered a three-way mixture of WHG, Neolithic Farmer, and Yamnaya Yamnaya related ancestry is lower in southern Europe and higher in northern Europe Supports steppe as a source for genes now found in Europe, with massive migration ~4,500 years ago
  29. 29. 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
  30. 30. 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
  31. 31. •  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
  32. 32. 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)
  33. 33. 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
  34. 34. The Bronze Age: first use of metal specifically to create weapons. The sword, spear and shield were all invented in this period (warrior idenGty became a standard part of daily life) Post-Neolithic Advantage: Metal Weapons? The Iron Age: First true mass-producGon of metal tools and weapons. RevoluGonizes both agriculture and warfare. 3200 to 3000 ya: Celts most dominant iron-age warriors. Ranging over Europe, from the BriGsh Isles to Hungary, the Celts forged tough swords made of iron.
  35. 35. “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)
  36. 36. Indo-European Invasions from Steppes Cultural / Technological Innovations Metal weapons, chariots, horses, domesticated animals, less reliance on agriculture/ more on dairy (milk) Spread of IE Languages Spread of Chariot
  37. 37. Expansions of Indo-European Languages
  38. 38. Eastern Armenian Adapazar Modern Greek Nepali Assamese Oriya Bengali Bihari Hindi Punjabi Lahnda Urdu Marathi GujaraG Sinhalese Romani Kashmiri German Swiss German Luxembourgish English Norwegian Faroese Icelandic Romanian Italian Ladin Friulian Romansh Provencal Walloon French Catalan Spanish Portuguese Cagliari Nuorese Scots Gaelic Irish Classical Armenian Ancient Greek Vedic Sanskrit Avestan Old Church Slavic Hilte Tocharian B Gothic Old High German Old English Old West Norse LaGn Old Irish 5000 4000 3000 2000 1000 today Years Ago Tree of Indo-European languages Supports hypothesis that root language, proto-Indo-European, originated in steppes of eastern Europe
  39. 39. Afanasevo culture (5300 YBP) Balto-Slavic Culture (2600 YBP) Corded Ware Culture (4900—4350 YPB). Maykop culture (5700—5000 YPB) Hilte Empire (3321–3322 YPB) CelGc DistribuGon: Core HallstaZ territory, by 2600 YBP Maximal CelGc expansion, by 2275 YBP Lusitanian area of Iberia CelGc speakers into Early Modern period CelGc languages spoken today Early Vedic Period (3700-3100 YBP). Tarim Basin: eastern remnant of Indo-Aryans (2500 YBP). Andronovo/ Indo-Iranian cultures (3800–3400 YBP) Expansion of Germanic tribes: SeZlements before 2750 New seZlements by 2500 New seZlements by 2250 New seZlements by 2000 Expansions of Metal Age Culture
  40. 40. Bronze Age Y chromosomes in Europeans >25% ancY Slovakia Switzerland Portugal Belgium Spain Austria FtDNA database
  41. 41. MET EEF WHG Loschbour Stuttgart Motala Motala MA1 Sardinian Spanish Bulgarian Greek Albanian Kalash Basque French_South French Croatian Hungarian Icelandic Norwegian Orcadian Scottish Czech Enghlish Finnish Mordovian Russian Estonian Lithuanian Belorussian Ukranian Bedouin Percentage Test European Hunter-gatherer Near Eastern Farmer Metal Age Invader
  42. 42. Thank you for listening! Olga Savina Tanya Karafet Rui Hu Meagan Peters Michael Davila

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