Abstract
Three Pakistani populations residing in northern Pakistan, the Burusho, Kalash and Pathan claim descent from Greek soldiers associated with Alexander's invasion of southwest Asia. Earlier studies have excluded a substantial Greek genetic input into these populations, but left open the question of a smaller contribution. We have now typed 90 binary polymorphisms and 16 multiallelic, short-tandem-repeat (STR) loci mapping to the male-specific portion of the human Y chromosome in 952 males, including 77 Greeks in order to re-investigate this question. In pairwise comparisons between the Greeks and the three Pakistani populations using genetic distance measures sensitive to recent events, the lowest distances were observed between the Greeks and the Pathans. Clade E3b1 lineages, which were frequent in the Greeks but not in Pakistan, were nevertheless observed in two Pathan individuals, one of whom shared a 16 Y-STR haplotype with the Greeks. The worldwide distribution of a shortened (9 Y-STR) version of this haplotype, determined from database information, was concentrated in Macedonia and Greece, suggesting an origin there. Although based on only a few unrelated descendants, this provides strong evidence for a European origin for a small proportion of the Pathan Y chromosomes.
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References
Wolpert S : A new history of India. New York: Oxford University Press, 2000.
Jettmar K : Beyond the Gorges of the Indus: Archaeology before excavation. Karachi, Pakistan: Oxford University Press, 2001.
Biddulph J : Tribes of the Hindoo Koosh. Karachi, Pakistan: Indus Publications, 1977.
Lines M : The Kalasha people of North-western Pakistan. Peshawar, Pakistan: Emjay Books International, 1999.
Caroe O : The Pathans. Karachi, Pakistan: Oxford University Press, 1958.
Qamar R, Ayub Q, Mohyuddin A et al: Y-chromosomal DNA variation in Pakistan. Am J Hum Genet 2002; 70: 1007–1024.
Mansoor A, Mazhar K, Khaliq S et al: Investigation of the Greek ancestry of populations from northern Pakistan. Hum Genet 2004; 114: 484–490.
Rosenberg NA, Pritchard JK, Weber JL et al: Genetic structure of human populations. Science 2002; 298: 2381–2385.
Rosenberg NA, Mahajan S, Ramachandran S, Zhao C, Pritchard JK, Feldman MW : Clines, clusters, and the effect of study design on the inference of human population structure. PLoS Genet 2005; 1: e70.
Jobling MA, Tyler-Smith C : The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 2003; 4: 598–612.
Underhill PA, Shen P, Lin AA et al: Y chromosome binary haplotypes and origins of modern human populations. Ann Hum Genet 2001; 26: 358–361.
Thomas MG, Bradman N, Flinn HM : High throughput analysis of 10 microsatellite and 11 diallelic polymorphisms on the human Y-chromosome. Hum Genet 1999; 105: 577–581.
Ayub Q, Mohyuddin A, Qamar R et al: Identification and characterisation of novel human Y-chromosomal microsatellites from sequence database information. Nucleic Acids Res 2000; 28: e8.
Schneider S, Kueffer J-M, Roessli D, Excoffier L : Arlequin ver 1.1: a software for population genetic data analysis. Switzerland: Genetics and Biometry Laboratory, University of Geneva, 1997.
Helgason A, Sigurdardottir S, Nicholson J et al: Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland. Am J Hum Genet 2000; 67: 697–717.
Bandelt HJ, Forster P, Rohl A : Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 1999; 16: 37–48.
Nei M, Tajima F, Tateno Y : Accuracy of estimated phylogenetic trees from molecular data. II. Gene frequency data. J Mol Evol 1983; 19: 153–170.
Nei M : Analysis of gene diversity in subdivided populations. Proc Natl Acad Sci USA 1973; 70: 3321–3323.
Nei M, Kumar S : Molecular evolution and phylogenetics. New York: Oxford University Press, 2000.
Francalacci P, Morelli L, Underhill PA et al: Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability. Am J Phys Anthropol 2003; 121: 270–279.
Flores C, Maca-Meyer N, Larruga JM et al: Isolates in a corridor of migrations: a high-resolution analysis of Y-chromosome variation in Jordan. J Hum Genet 2005; 50: 435–441.
Cinnioglu C, King R, Kivisild T et al: Excavating Y-chromosome haplotype strata in Anatolia. Hum Genet 2004; 114: 127–148.
Roewer L, Krawczak M, Willuweit S et al: Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int 2001; 118: 106–113.
Semino O, Magri C, Benuzzi G et al: Origin, diffusion, and differentiation of Y-chromosome haplogroup E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area. Am J Hum Genet 2004; 74: 1023–1034.
Cruciani F, La Fratta R, Santolamazza PG et al: Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa. Am J Hum Genet 2004; 74: 1014–1022.
Kayser M, Roewer L, Hedman M et al: Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet 2000; 66: 1580–1588.
Zhivotovsky LA, Underhill PA, Cinnioglu C et al: The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet 2004; 74: 50–61.
Cruciani F, La Fratta R, Torroni A et al: Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers. Hum Mutation 2006; 27: 831–832.
Engels DW : Alexander the Great and the logistics of the Macedonian Army. Berkeley, CA: University of California Press, 1981.
Acknowledgements
We thank the donors for the samples used in this study. This work was supported by a Wellcome Trust Collaborative Research Initiative Grant to S Qasim Mehdi. CT-S was supported by the Wellcome Trust. We would like to thank S Siddiqi and A Mansoor for technical assistance and Professors LL Cavalli-Sforza, SQM and anonymous reviewers for their helpful comments.
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Firasat, S., Khaliq, S., Mohyuddin, A. et al. Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan. Eur J Hum Genet 15, 121–126 (2007). https://doi.org/10.1038/sj.ejhg.5201726
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DOI: https://doi.org/10.1038/sj.ejhg.5201726
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