1. Origin of Man, Language and Languages Central Asia A common inquiry in genetics, linguistics and anthropology Granted by European Science foundation CNRS

2. Eurasia

3. Central Asia KAZAKS KARAKALPAKS TURKMENS UZBEKS TURKIC - SPEAKING PEOPLE IRANIAN-SPEAKING PEOPLE KIRGHIZES TAJIKS KIRGHIZES UZBEKS

4. Expeditions 2001 Karakalpakie (Karakalpak, Uzbek, Kazakh) 2002 Karakalpakie (On Tort Uruw, Turkmen) 2003 Kirghizie (North and South) 2004 Tajik from Uzbekistan (Ferghana and Samarkand area) 2005 Boukhara area : Kazakh, Ouzbek and Tajik 2005 Tajik and Uzbek from Tajikistan (Gharm and Penjinkent area)

6. Ethnological questionnaire Location, langage spoken, tribe if applicable of individuals and 4 grand-parents Information on married children

7. Linguistic data

10. Blood, DNA 5 ml for each individual Informed consent On the field : blood is process  white cells In the laboratory : DNA extraction

11. Main goals Trace back population history Describe genetic diversity in Central Asia Compare genetic and linguistic distances

12. History of Eurasia : Past demographic expansion –By Raphaelle Chaix (Former PhD Student)

13. « Mismatch distribution » Pop 1 All 2 by 2 comparison Pop 2 A T A A T C A C A T T C Number of differences between sequences Fq 0 2 4 6 8 Fq 0 2 4 6 8 seq1 seq2 Estimation of  = 2Tu Age of expansion

14. Age of expansion (  ) ADNmt N=133

15. r=0.7 p=0 longitude  ADNmt

16. Chr Y N=77 Age of expansion (  )

17. r=0.3 p=0.01 longitude  ChrY

18. 31 6.6 17 5.6 27 7.4 25 6 ADNmt / Chr Y (KY) Age of expansion (T) 30 7.2 24 7 mtDNA dating depends on the mutation rate 30000yrs BP China to 17000yrs BP in Europe (-27000 in CA) 62000yrs BP in China to 35000yrs BP in Europe (-54000 in CA)

19. « intermatch distribution » (Harpending et al 2000 – Excoffier et al 2004) Pop 1 All 2 by 2 comparison Pop 2 Number of differences between sequences Fq 0 2 4 6 8 Fq 0 2 4 6 8 Center of expansion ? Same center of expansion for the 2 populations

20. Extrême- Orient Asie- Centrale Europe Cultural expansion Fq 0 2 4 6 8

21. Demic expansion Fq 0 2 4 6 8 Extrême- Orient Asie- Centrale Europe

22. Cultural expansion with high migration rate = “Demic expansion” Fq 0 2 4 6 8 Extrême- Orient Asie- Centrale Europe

23. Past expansion in Eurasia Mitochondrial DNA : East to West in Paleolithic (from China to Central Asia and then to Europe – from Middle East to Europe)  no cultural expansion Y chromosome : expansion during Neolithic. Two centers of expansion (China and ME, Pakistan CA) perhaps 3 (Europe). For central Asia : same timing for expansion as Middle East, a little bit earlier but not statistically significant. –Differences explained by lower Ne for male

24. Central Asia diversity 463 individuals typed for two uniparental markers : –Y chromosome  Micro satellites + SNP –Mitochondrial DNA  HVS-I + RFLP 400 to be typed

25. Y Chromosome diversity

26. Genetic distances among populations : chromosome Y r gen-geo = 0,85 KZ KK UZ OTU TK KRG KRM KRA TJK TJR

27. Comparison of genetic and ethnological data

28. From oral tradition Ancêtre commun de la tribu Common tribe’s ancestor Common clan’s ancestor Common lineage’s ancestor

29. If a recent common ancestor If no recent common ancestor Common ancestor Strong genetical kinship Low genetical kinship Patrilinear filiation  Y chromosome study

30. 250 men : genealogical information 1 – Ethnological questionnaire 2 – Patrilinear genetic kinship 12 microsatellites of Y chromosome

31.  tribe Same tribe Same lineage Same clan Mean genetic kinship coefficient for each ethnological class of the five populations examined in this study. KZ Kazakhs; TK Turkmen; UZ Uzbeks; QN Qongrat; OTU On Tort Uruw. Kinship coefficient

32.  tribe Same tribe Same lineage Same clan Kinship coefficient

33.  tribe Same tribe Same lineage Same clan Kinship coefficient

34.  tribe Same tribe Same lineage Same clan Kinship coefficient

35. ASD = mean square number of differences between the ancestor and the individuals T : age Ancestor of the clan or of the lineage T = ASD /   = mutation rate 2.1x 10 -3 per generation mutation Datation

36. Ancêtre commun de la tribu Common clan’s ancestor Common lineage’s ancestor 50 generations App. 1500 years 15 generations App. 450 years Tribe : mythical ancestor

37. Conclusion Genetical data can help decipher social organisation Lineages and clans : people share a recent common ancestor Tribes : a conglomerate of clans who subsequently invented a mythical ancestor to strengthen group unity

38. Y chromosome Low diversity of some populations is explained by social organistaion Distances among populations related to geographical distances

39. Mitochondrial DNA

40. r gen-geo = O KZ KK UZ OTU TK KRG KRM KRA TJK TJR Tja Tju MDS based on mt DNA – 12 populations – (Kimura 2P – α =0.26)

41. Central Asian Populations

42. MDS de l’ADN mito Tajiks No gen-geo correlation MDS based on mt DNA – 28 populations – (Kimura 2P – α =0.26)

43. Kazakhs KarakalpaksKarakalpaks_(OTU) Karakalpaks_(Qongirat) Ouighours Kazakhs Shugnan_(Pamir_Tajikistan) Kurds_du_Turkmenistan Turkmènes Kirghizes (Comas) Tajiks Ouzbeks Kazakhs Uighurs Kirghizes Kirghizes A Tajiks R Tajiks A &U Ouzbeks (Korezhm) Ouzbeks Turkmènes Kirghizes G&M

44. Mitochondrial DNA Mean distance (Fst) between populations Diagonal show intra group distances Exogamous populations Endogamous populations

46. Mitochondrial DNA Distances among populations not related to linguistic or geographical distances Exchange among populations differ between Turko-Mongol (exogamous) populations and Indo-Iranian (endogamous) populations

47. Conclusion Past history: clear movement from east to west in paleolithic – strong population growth in neolithic. Exchange between populations clearly different for male and female Linguistic distances ?

48. Computational linguistic Background Design of the sampling Swadesh list 2/3 speakers for each sampling location (interspeaker variation) Analyses We are not interested in historical linguistics.

49. Central Asia about 1000 CE : language groups Indo-iranian Turkic : Oguz, Kipchak, Karluk ? Sogdian Khorasmian Persian-Tadjik Oguz Kipchak Karluk ? Ossetic Pamirian Dardic

50. We want to statistically compare genetic and linguistic data More linguistic differences among Iranian populations than among Turkish populations ?

51. We have two major linguistic groups Indo-Iranian and Turk We will focus on them separately since they both constitute a DIALECT-CHAIN Borrowing, if it exists is less of a problem since it reflects CONTACT (migrations), a kind of information that is embedded in genetic data. More than historical linguistics we look for a POPULATION LINGUISTICS … we selected distance-based approaches

52. Phonetic alignment: An alignement algorithm (string mapping) A metric for measuring distances between phonetic segments Distance Matrices: Correlate linguistic and geographic distances Correlate linguistic and genetic distances (mt DNA) Dialectometrical Computation of distances (Kondrak 2004, Heeringa 2004)

53. From Ph Mennecier

54. What remains to be done in genetic analysis Phylogeography of Y and mtDNA  geographic patterns of genetic variation may reveal migrations synchronic to linguistic phenomena (replacement, borrowing,..) Autosomal markers Samples from Tajikistan Thanks all the people who participated to this study

55. In France : Dr. François Jacquesson, linguist, CNRS Pr. Evelyne Heyer, geneticist, MNHN, CNRS Dr. Lluis Quintana, geneticist, CNRS, Inst. Pasteur Dr. Philippe Mennecier, linguist, MNHN Dr. Frederic Austerlitz, geneticist, CNRS Dr. Svetlana Jacquesson, anthropologist, IFEAC Dr. Franz Manni, geneticist, MNHN Dr. R Chaix (former PhD student, in Oxford) Dr. P Balaresque (former PhD student, in Leicester) In Central Asia : Dr. Tatiana Hegai, geneticist, Tashkent Pr. Ruslan Ruzibakiev, geneticist, Tashkent Dr. Aldashev, geneticist, Bishkek Pr. Vadim Yagodin, archaeologist, Nukus Dr. Bakyt Amanbaeva, archaeologist, Bishkek Pr. Firuza Nasyrova, genetist, Douchanbé

57. Alignement INDUSTRY 0 I0 N0 T1 E2 R345 E6 S6 T678 industrySubst i/i0 industrySubst. n/n 0 intdustryInsert t1 intedustryInsert e1 interdustryInsert r1 interustryDelete d1 InterstryDelete u1 interestryInsert e1 InterestrySubst s/s0 InterestrySubst t/t0 InterestyDelete r1 InterestDelete y1 Total cost8 The indels are weighted as 1 instead of 2 in a newer version of the algorithm

58. Y Chromosome diversity

59. Genetic distances among populations : chromosome Y