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

Abstract

The phylogeography of Y-chromosome haplogroups E (Hg E) and J (Hg J) was investigated in >2400 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.

Origins, admixture and founder lineages in European Roma

“…The founder lineages J-M92 and J-M67 are present in both Roma and hosts, as well as in the populations found in the Roma migration way out-of-India. 47 Both lineages showed a star-like pattern in Roma with the exception of some individuals. Interestingly, the haplotypes within the star-like cluster were absent in the hosts, with the exception, again, of one Hungarian for J-M92 and one for J-M67 (Supplementary Figure S2).…”

“…Interestingly, the haplotypes within the star-like cluster were absent in the hosts, with the exception, again, of one Hungarian for J-M92 and one for J-M67 (Supplementary Figure S2). As these haplogroups were present in Europe far before the arrival of Roma, 47 not all individuals carrying these lineages might be considered signals of gene flow between Roma and their hosts. Despite this limitation, we could identify one Roma individual with a haplotype far away from the star-like core identified as the founder J-M92 in Roma, suggesting gene flow from host to Roma (see Supplementary Figure S2D).…”

The key role of patrilineal inheritance in shaping the genetic variation of Dagestan highlanders

“…26 The Cohen, Galilee and I&P Arab modal haplotypes, 27 which were reported in the Turkic populations from Anatolia 19 were not found in the Dagestan samples. The ethnic groups analyzed in this study are in boldtype.…”

Admixture and population structure in Mexican-Mestizos based on paternal lineages

“…Finally, in anthropology, these results contribute to historical research, providing an overview of male migration effects after European contact in Mexican territory. 33 European and Native American paternal ancestry The frequency of European haplogroups R1b1*, R*, R1a*, I* and E1b1b1* (49.9%) plus Eurasian haplogroups G*, J* and K* (14.7%) defined the total European ancestry of Mexican-Mestizos in 64.6% Eurasian lineages; that is, those found both in Asia and in Europe, were considered European rather than Asian based on the following: (1) historical records on Mexican population that largely involve Spanish conquerors; 3,34 (2) the elevated frequency of the cited Eurasian lineages in Europe, particularly in the Iberian Peninsula, where Spain is located, 22,[35][36][37][38] and (3) the scarce frequency of Asian ancestry (range, 1-1.4%) detected in Mexican-Mestizos according to genome-wide SNP results. 5 A higher frequency of European ancestry was observed in the north and west and vice versa; Native American ancestry increased toward Center-South and southeast (Table 2) (Figure 3).…”