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. Underhill Email author Original Investigation First Online: 29 October 2003 Received: 13 June 2003 Accepted: 19 August 2003 Abstract 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.
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CrossRef PubMed Google Scholar Authors and Affiliations 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. Underhill Email author 1. Department of Genetics Stanford University School of Medicine Stanford USA 2. Department of Psychiatry and Behavioral Sciences Stanford University Stanford USA 3. Estonian Biocentre and Tartu University Tartu Estonia 4. Institute of Forensic Sciences Istanbul University Istanbul Turkey 5. Anthropological Sciences Stanford University Stanford USA 6. Stanford Genome Technology Center Palo Alto USA 7. Dipartimento di Genetica e Microbiologia Università di Pavia Pavia Italy