Human Genetics

, Volume 114, Issue 2, pp 127–148 | Cite as

Excavating Y-chromosome haplotype strata in Anatolia

  • Cengiz Cinnioğlu
  • Roy King
  • Toomas Kivisild
  • Ersi Kalfoğlu
  • Sevil Atasoy
  • Gianpiero L. Cavalleri
  • Anita S. Lillie
  • Charles C. Roseman
  • Alice A. Lin
  • Kristina Prince
  • Peter J. Oefner
  • Peidong Shen
  • Ornella Semino
  • L. Luca Cavalli-Sforza
  • Peter A. UnderhillEmail author
Original Investigation


Analysis of 89 biallelic polymorphisms in 523 Turkish Y chromosomes revealed 52 distinct haplotypes with considerable haplogroup substructure, as exemplified by their respective levels of accumulated diversity at ten short tandem repeat (STR) loci. The major components (haplogroups E3b, G, J, I, L, N, K2, and R1; 94.1%) are shared with European and neighboring Near Eastern populations and contrast with only a minor share of haplogroups related to Central Asian (C, Q and O; 3.4%), Indian (H, R2; 1.5%) and African (A, E3*, E3a; 1%) affinity. The expansion times for 20 haplogroup assemblages was estimated from associated STR diversity. This comprehensive characterization of Y-chromosome heritage addresses many multifaceted aspects of Anatolian prehistory, including: (1) the most frequent haplogroup, J, splits into two sub-clades, one of which (J2) shows decreasing variances with increasing latitude, compatible with a northward expansion; (2) haplogroups G1 and L show affinities with south Caucasus populations in their geographic distribution as well as STR motifs; (3) frequency of haplogroup I, which originated in Europe, declines with increasing longitude, indicating gene flow arriving from Europe; (4) conversely, haplogroup G2 radiates towards Europe; (5) haplogroup E3b3 displays a latitudinal correlation with decreasing frequency northward; (6) haplogroup R1b3 emanates from Turkey towards Southeast Europe and Caucasia and; (7) high resolution SNP analysis provides evidence of a detectable yet weak signal (<9%) of recent paternal gene flow from Central Asia. The variety of Turkish haplotypes is witness to Turkey being both an important source and recipient of gene flow.



We are grateful to all the donors for providing DNA samples for this study. This study was supported by NIH grants GM28428 and GM 55273 to L.L.C-S and by Progetti Ricerca Interesse Nazionale 2002 and CNR “Beni Culturali” to O.S. We thank C. Edmonds for regression analyses associated with DYS389 calibration.


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Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Cengiz Cinnioğlu
    • 1
    • 4
  • Roy King
    • 2
  • Toomas Kivisild
    • 3
  • Ersi Kalfoğlu
    • 4
  • Sevil Atasoy
    • 4
  • Gianpiero L. Cavalleri
    • 1
  • Anita S. Lillie
    • 1
  • Charles C. Roseman
    • 5
  • Alice A. Lin
    • 1
  • Kristina Prince
    • 1
  • Peter J. Oefner
    • 6
  • Peidong Shen
    • 6
  • Ornella Semino
    • 7
  • L. Luca Cavalli-Sforza
    • 1
  • Peter A. Underhill
    • 1
    Email author
  1. 1.Department of GeneticsStanford University School of MedicineStanfordUSA
  2. 2.Department of Psychiatry and Behavioral SciencesStanford UniversityStanfordUSA
  3. 3.Estonian Biocentre and Tartu UniversityTartuEstonia
  4. 4.Institute of Forensic Sciences Istanbul University IstanbulTurkey
  5. 5.Anthropological SciencesStanford UniversityStanfordUSA
  6. 6.Stanford Genome Technology CenterPalo AltoUSA
  7. 7.Dipartimento di Genetica e MicrobiologiaUniversità di PaviaPaviaItaly

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