Cinnioğlu et al. (2004)

From Haplowiki

Cinnioğlu et al. (2004)

"Excavating Y-chromosome haplotype strata in Anatolia"

Authors:

• C. Cinnioğlu · G. L. Cavalleri · A. S. Lillie · A. A. Lin · K. Prince · L. L. Cavalli-Sforza · P. A. Underhill (contact)

Department of Genetics, Stanford University School of Medicine,

300 Pasteur Drive, Stanford, CA 94305-5120, USA

Tel.: +1-650-7235805, Fax: +1-650-7251534,

e-mail: under@stanford.edu

• R. King

Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA

• T. Kivisild

Estonian Biocentre and Tartu University, Tartu, Estonia

• C. Cinnioğlu · E. Kalfog˘ lu · S. Atasoy

Institute of Forensic Sciences, Istanbul University, Istanbul, Turkey

• C. C. Roseman

Anthropological Sciences, Stanford University, Stanford, California, USA

• P. J. Oefner · P. Shen

Stanford Genome Technology Center, Palo Alto, California, USA

• O. Semino

Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy

Hum Genet 114, doi:10.1007/s00439-003-1031-4 http://www.springerlink.com/content/q884mpdr929yuye0/fulltext.pdf

Received: 13 June 2003 / Accepted: 19 August 2003 / Published online: 29 October 2003

Abstract

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.

Haplowiki Comment

Like Adams et al. (2008) his was one of the most detailed regional studies relevant to E-M35 at the time, and still is. Perhaps the most important conclusions for E-M35:

1. E-M78 was surprisingly low in Anatolia compared to the Balkans and Middle East. 2. E-M123 was surprisingly high, and indeed more common than E-M78.