Semino et al. (2004)

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Semino et al. (2004)

"Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area"

American Journal of Human Genetics 74: 1023–1034

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1181965 PMCID: PMC1181965

Received December 17, 2003; Accepted February 6, 2004. Published online 2004 April 6.

Authors:

Ornella Semino,1 Chiara Magri,1 Giorgia Benuzzi,1 Alice A. Lin,2 Nadia Al-Zahery,1,4 Vincenza Battaglia,1 Liliana Maccioni,5 Costas Triantaphyllidis,6 Peidong Shen,7 eter J. Oefner,7 Lev A. Zhivotovsky,8 Roy King,3 Antonio Torroni,1 L. Luca Cavalli-Sforza,2 Peter A. Underhill,2 and A. Silvana Santachiara-Benerecetti1

Associations:

  • 1. Dipartimento di Genetica e Microbiologia ‘‘A. Buzzati Traverso,” Università di Pavia, Pavia, Italy;
  • Departments of 2. Genetics and 3. Psychiatry and Behavioral Sciences, University of Stanford, Stanford;
  • 4. Department of Biotechnology, College of Science, University of Baghdad, Baghdad;
  • 5. Istituto di Clinica e Biologia Evolutiva, Università di Cagliari, Cagliari, Italy;
  • 6. Department of Genetics, Development and Molecular Biology, Aristotle University of Thessaloniki, Thessaloniki;
  • 7. Stanford Genome Technology Center, Palo Alto; and 8Vavilov Institute of General Genetics, Russian Academy of Science, Moscow

Address for correspondence and reprints: Dr. Ornella Semino, Dipartimento di Genetica e Microbiologia, Università di Pavia, Via Ferrata, 1, 27100 Pavia, Italy. E-mail: semino@ipvgen.unipv.it


Abstract

The phylogeography of Y-chromosome haplogroups E (Hg E) and J (Hg J) was investigated in >2,400 subjects from 29 populations, mainly from Europe and the Mediterranean area but also from Africa and Asia. The observed 501 Hg E and 445 Hg J samples were subtyped using 36 binary markers and eight microsatellite loci. Spatial patterns reveal that (1) the two sister clades, J-M267 and J-M172, are distributed differentially within the Near East, North Africa, and Europe; (2) J-M267 was spread by two temporally distinct migratory episodes, the most recent one probably associated with the diffusion of Arab people; (3) E-M81 is typical of Berbers, and its presence in Iberia and Sicily is due to recent gene flow from North Africa; (4) J-M172(xM12) distribution is consistent with a Levantine/Anatolian dispersal route to southeastern Europe and may reflect the spread of Anatolian farmers; and (5) E-M78 (for which microsatellite data suggest an eastern African origin) and, to a lesser extent, J-M12(M102) lineages would trace the subsequent diffusion of people from the southern Balkans to the west. A 7%–22% contribution of Y chromosomes from Greece to southern Italy was estimated by admixture analysis.

Data

Population/Region a No.E % 2*c 58 191 154 P2* 329 35* 123 78 81 281 33 75 No.D %
Arab (Morocco) d (49)3775.542.932.6
Arab (Morocco) e (44)3272.76.82.311.452.3
Berber (Morocco) d (64)5585.94.710.968.71.6
Berber (north-central Morocco) e (63)5587.39.57.91.665.13.2
Berber (southern Morocco) e (40)3587.52.57.512.565
Saharawish (North Africa) e (29)2482.73.475.93.4
Algerian (32)2165.63.13.16.353.1
Tunisian (58)3255.23.43.45.215.527.6
Mali f (44)3784.120.529.534.1
Burkina Faso d (106)10599.167.91.913.20.93.811.3
North Cameroon d (152)6945.420.312.51.37.93.3
South Cameroon d (89)8393.343.840.49
Senegalese g (139)13697.880.60.72.950.70.752.9
Bantu (South Africa) f (53)448354.75.73.81.91.915.1
Khoisan (South Africa) d (90)5965.631.111.11.116.75.6
Sudan f (40)123017.552.55
Ethiopian (Oromo) g (78)6279.512.82.619.25.135.92.61.3
Ethiopian (Amhara) g (48)2245.810.410.42.122.9
Iraqi (218)209.20.92.85.5
Lebanese (42)8194.811.92.4
Ashkenazim Jewish (77)1418.21.311.75.2
Sephardim Jewish (40)12302.51012.55
Turkish (Istanbul) (46)6132.28.72.2
Turkish (Konya) (117)1714.51.712.810.9
Georgian (41)00
Balkarian (southern Caucasus) (39)12.62.6
Northern Greek (Macedonia) (59)1220.31.718.6
Greek (84)2023.82.421.4
Albanian (44)112525
Croatian (57)58.81.87
Hungarian (53)59.41.97.5
Ukrainian (93)88.61.17.5
Polish (99)444
Italian (north-central Italy) (56)610.710.7
Italian (Calabria 1) (80)1822.51.32.516.31.31.3
Italian (Calabria 2)h (68)1623.51.513.25.92.9
Italian (Apulia) (86)1213.92.311.6
Italian (Sicily) (55)1527.35.53.612.75.5
Italian (Sardinia) (139)750.71.42.9
Dutch (34)00
Bearnais (27)13.73.7
French Basque (45)00
Spanish Basque (48)12.12.1
Catalan (33)26.133
Andalusian (76)79.23.95.3
Andalusiane (37)410.82.72.75.4
Hindu (India) (47)00
Tharu (Nepal) (98)0044.1
Chinese (65)0011.5
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