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, 74 (5), 1014-22

Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out of Africa


Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out of Africa

Fulvio Cruciani et al. Am J Hum Genet.


We explored the phylogeography of human Y-chromosomal haplogroup E3b by analyzing 3401 individuals from five continents. Our data refine the phylogeny of the entire haplogroup, which appears as a collection of lineages with very different evolutionary histories, and reveal signatures of several distinct processes of migrations and/or recurrent gene flow that occurred in Africa and western Eurasia over the past 25000 years. In Europe, the overall frequency pattern of haplogroup E-M78 does not support the hypothesis of a uniform spread of people from a single parental Near Eastern population. The distribution of E-M81 chromosomes in Africa closely matches the present area of distribution of Berber-speaking populations on the continent, suggesting a close haplogroup-ethnic group parallelism. E-M34 chromosomes were more likely introduced in Ethiopia from the Near East. In conclusion, the present study shows that earlier work based on fewer Y-chromosome markers led to rather simple historical interpretations and highlights the fact that many population-genetic analyses are not robust to a poorly resolved phylogeny.


Figure  1
Figure 1
Phylogenetic tree of haplogroup E3b. Markers typed in this study are in boldface letters. Haplogroups are designated according to the Y Chromosome Consortium (2002) and Jobling and Tyler-Smith (2003), by subclade and also by mutation (within parentheses). Note that the discovery of a new mutation (V6) and new samples with an intermediate haplogroup (derived state at M215 and ancestral state at M35) determine a revision in topology and nomenclature of the E3b haplogroup. Subjects belonging to paragroup DE* have recently been reported (Weale et al. 2003).
Figure  2
Figure 2
Microsatellite networks of E3b haplogroups. A, E-M35*. B, E-M78. C, E-M81. D, E-M34. Reduced-median and median-joining procedures (Bandelt et al. 1995, 1999) were applied sequentially. A haplogroup-specific weight proportional to the reciprocal of microsatellite variance was used in the construction of the networks. The E-M78 unweighted network (not shown) gave the same quadripartite structure. Unassigned chromosomes (B) showed an intermediate position between clusters α and δ in the unweighted network. Microsatellite haplotypes are represented by circles, with areas proportional to the number of individuals harboring the haplotype. Branch lengths are proportional to the number of one-step mutations separating two haplotypes.

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