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

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 mic...

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Published in:American journal of human genetics 2004-05, Vol.74 (5), p.1023-1034
Main Authors: Semino, Ornella, Magri, Chiara, Benuzzi, Giorgia, Lin, Alice A., Al-Zahery, Nadia, Battaglia, Vincenza, Maccioni, Liliana, Triantaphyllidis, Costas, Shen, Peidong, Oefner, Peter J., Zhivotovsky, Lev A., King, Roy, Torroni, Antonio, Cavalli-Sforza, L. Luca, Underhill, Peter A., Santachiara-Benerecetti, A. Silvana
Format: Article
Language:English
Subjects:
Africa, Northern
Alleles
Chromosomes, Human, Y - genetics
Europe
Gene Frequency
Genetic Variation
Genetics, Population
Geography
Haplotypes - genetics
Humans
Male
Mediterranean Region
Microsatellite Repeats
Middle East
Phylogeny
Polymorphism, Genetic
Recombination, Genetic
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Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1086/386295