TY - JOUR
T1 - Excavating Y-chromosome haplotype strata in Anatolia
AU - Cinnioǧlu, Cengiz
AU - King, Roy
AU - Kivisild, Toomas
AU - Kalfoǧlu, Ersi
AU - Atasoy, Sevil
AU - Cavalleri, Gianpiero L.
AU - Lillie, Anita S.
AU - Roseman, Charles C.
AU - Lin, Alice A.
AU - Prince, Kristina
AU - Oefner, Peter J.
AU - Shen, Peidong
AU - Semino, Ornella
AU - Cavalli-Sforza, L. Luca
AU - Underhill, Peter A.
N1 - Funding Information:
Acknowledgements 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.
PY - 2004/1
Y1 - 2004/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=10744233468&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=10744233468&partnerID=8YFLogxK
U2 - 10.1007/s00439-003-1031-4
DO - 10.1007/s00439-003-1031-4
M3 - Article
C2 - 14586639
AN - SCOPUS:10744233468
VL - 114
SP - 127
EP - 148
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 2
ER -