Journal of Genetics

, Volume 80, Issue 3, pp 125–135 | Cite as

High-resolution analysis of Y-chromosomal polymorphisms reveals signatures of population movements from central Asia and West Asia into India

  • Namita Mukherjee
  • Almut Nebel
  • Ariella Oppenheim
  • Partha P. MajumderEmail author


Linguistic evidence suggests that West Asia and Central Asia have been the two major geographical sources of genes in the contemporary Indian gene pool. To test the nature and extent of similarities in the gene pools of these regions we have collected DNA samples from four ethnic populations of northern India, and have screened these samples for a set of 18 Y-chromosome polymorphic markers (12 unique event polymorphisms and six short tandem repeats). These data from Indian populations have been analysed in conjunction with published data from several West Asian and Central Asian populations. Our analyses have revealed traces of population movement from Central Asia and West Asia into India. Two haplogroups, HG-3 and HG-9, which are known to have arisen in the Central Asian region, are found in reasonably high frequencies (41.7% and 14.3% respectively) in the study populations. The ages estimated for these two haplogroups are less in the Indian populations than those estimated from data on Middle Eastern populations. A neighbour-joining tree based on Y-haplogroup frequencies shows that the North Indians are genetically placed between the West Asian and Central Asian populations. This is consistent with gene flow from West Asia and Central Asia into India.


unique event polymorphism short tandem repeat haplotype haplogroup genome diversity 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Bhattacharyya N., Basu P., Das M., Pramanik S., Banerjee R. Roy B., Roychoudhury S and Majumder P. P. 1999 Negligible male gene-flow across ethnic boundaries in India, revealed by analysis of Y-chromosomal DNA polymorphisms.Genome Res. 9, 711–719.PubMedGoogle Scholar
  2. Cann R. L. 2001 Genetic clues to dispersal of human populations: retracing the past from the present.Science 291, 1742–1748.PubMedCrossRefGoogle Scholar
  3. Casalotti E., Simoni L., Belledi M. and Barbujani G. 1999 Y-chromosome polymorphisms and the origins of the European gene pool.Proc. R. Soc. London B266, 1959–1965.CrossRefGoogle Scholar
  4. Casanova M., Leroy P., Boucekkine C., Weissenbach J., Bishop C., Fellous M., Purrello M., Fiori G. and Siniscalco M. 1985 A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance.Science 230, 1403–1406.PubMedCrossRefGoogle Scholar
  5. Cavalli-Sforza L. L., Piazza A. and Menozzi P. 1994The history and geography of human genes. Princeton University Press. Princeton.Google Scholar
  6. Hammer M. F., Karafet T., Rasanayagam A., Wood E. T., Altheide T. K., Jenkins T., Griffiths R. C., Templeton A. R. and Zegura S. L. 1998 Out of Africa and back again: nested cladistic analysis of human Y chromosome variation.Mol. Biol. Evol. 15, 427–441.PubMedGoogle Scholar
  7. Hammer M. F., Redd A. J., Wood E. T., Bonner M. R., Jarjanazi H., Karafet al. 2000 Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes.Proc. Natl. Acad. Sci. USA 97, 6769–6774.PubMedCrossRefGoogle Scholar
  8. Hill E. Q., Jobling M. A. and Bradley D. G. 2000 Y-chromosome variation and Irish origins.Nature 404, 351–352.PubMedCrossRefGoogle Scholar
  9. Hurles M. E., Veitia R., Arroyo E., Armenteros M., Bertranpetit J., Perez-Lezaun al. 1999 Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism.Am. J. Hum. Genet. 65, 1437–1448.PubMedCrossRefGoogle Scholar
  10. Karafet T. M., Zegura S. L., Posukh O., Osipova L., Bergan A., Long al. 1999 Asian sources of New World Y-chromosome founder haplotypes.Am. J. Hum. Genet. 64, 817–831.PubMedCrossRefGoogle Scholar
  11. Karve I. 1961Hindu society: an interpretation, Deshmukh Prakashan, Pune.Google Scholar
  12. Kochhar R. 2000The Vedic people. Orient Longman, Hyderabad.Google Scholar
  13. Nebel A., Filon D., Weiss D. A., Weale M., Faerman M., Oppenheim A. and Thomas M. G. 2000 High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews.Hum. Genet. 107, 630–641.PubMedCrossRefGoogle Scholar
  14. Nei M. 1973 Analysis of gene diversity in subdivided populations.Proc. Natl. Acad. Sci. USA 70, 3321–3323.PubMedCrossRefGoogle Scholar
  15. Quintana-Murci L., Krausz C., Zerjal T., Sayar S. H., Hammer M. F., Mehdi S. al. 2001 Y-chromosome lineages trace diffusion of people and languages in southwestern Asia.Am. J. Hum. Genet. 68, 537–542.PubMedCrossRefGoogle Scholar
  16. Raymond M. and Rousset F. 1995 Genepop (version 1.2): Population genetics software for exact tests and ecumenicism.J. Hered. 86, 248–249.Google Scholar
  17. Renfrew C. 1987 Language families and the spread of farming. InThe origins and the spread of agriculture and pastoralism in Eurasia (ed. D. R. Harris), pp. 70–92. Smithsonian Institution Press, Washington.Google Scholar
  18. Renfrew C. 1990Archaeology and language: the puzzle of Indo-European origins. Jonathan Cape, London.Google Scholar
  19. Rosser Z. H., Zerjal T., Hurles M. E., Adojaan M., Alavantic D., Amorim al. 2000 Y-chromosomal diversity in Europe is clinal and is influenced primarily by geography, rather than by language.Am. J. Hum. Genet. 67, 1526–1543.PubMedCrossRefGoogle Scholar
  20. Rousset F. 2001 Inferences from spatial population genetics. InHandbook of statistical genetics (ed. D. Balding, M. Bishop and C. Cannings) pp. 239–269. Wiley, London.Google Scholar
  21. Spear P. 1975A history of India, Volume 2. Penguin, London.Google Scholar
  22. Stumpf M. P. H. and Goldstein D. B. 2001 Genealogical and evolutionary inference with the human Y chromosome.Science 291, 1738–1742.PubMedCrossRefGoogle Scholar
  23. Thapar R. 1975A history of India, Volume 1. Penguin, London.Google Scholar
  24. Thomas M., Bradman N. and Flinn H. 1999 High throughput analysis of 10 microsatellite and 11 diallelic polymorphisms on the human Y-chromosome.Hum. Genet. 105, 577–581.PubMedCrossRefGoogle Scholar
  25. Zerjal T., Dashnyam B., Pandya A., Kayser M., Roewer L., Santos F. al. 1997 Genetic relationships of Asians and northern Europeans, revealed by Y-chromosomal DNA analysis.Am. J. Hum. Genet. 60, 1174–1183.PubMedGoogle Scholar
  26. Zerjal T., Pandya A., Santos F. R., Adhikari R., Tarazona E., Kayser al. 1999 The use of Y-chromosomal DNA variation to investigate population history: recent male spread in Asia and Europe. InGenomic diversity: applications in human population genetics (ed. S. S. Papiha, R. Deka and R. Chakraborty), pp. 91–102, Plenum, New York.Google Scholar

Copyright information

© Indian Academy of Sciences 2001

Authors and Affiliations

  • Namita Mukherjee
    • 1
  • Almut Nebel
    • 2
  • Ariella Oppenheim
    • 2
  • Partha P. Majumder
    • 1
    Email author
  1. 1.Anthropology and Human Genetics UnitIndian Statistical InstituteKolkataIndia
  2. 2.Hebrew University-Hadassah Medical SchoolJerusalem

Personalised recommendations