Two hypotheses have been proposed for the origin of Marsh Arabs: (i) they could be aboriginal inhabitants of Mesopotamia, correlated to the old Sumerians; (ii) they could be foreign people of unknown origin. Although the origin of Sumerians has yet to be clarified [5], the two main scenarios, autochthonous vs foreign ancestry, may have produced different genetic outcomes with Marsh Arabs being genetically closer to Middle Eastern groups or other populations, for instance those of the Indian sub-continent. Thus, in order to shed some light on this question Marsh Arab population was investigated for mtDNA and Y chromosome markers. Due to their characteristics (uniparental transmission and absence of recombination) and their wide datasets, they are, at present, among the best genetic systems for detecting signs of ancient migration events and to evaluate socio-cultural behaviours [35, 36].
When the two J1-M267 sub-clades, J1-M267* and J1-Page08 are considered (Figure 6), differential frequency trends emerge. The less represented J1-M267* primarily diffuses towards North East Mesopotamia and shows its highest incidence in the Assyrians of northern Iraq, and Turkey. By contrast, J1-Page08 accounts for the great majority of the J1 distribution in South Western Mesopotamia, reaching its highest value (74.1%) in the marsh area. By considering the STR haplotypes associated with the two branches, the highest values of variance are localized in northern Mesopotamia (North Iraq/South East Turkey) (Figure 6, Additional files 7, 8 and 9). For the J1-Page08 lineage, high variance values were also observed in Ethiopia, Oman and South Eastern Italy (Table 2). Although present data are not adequate to define the homeland of the J1-Page08 sub-clade, some useful information can be obtained from the haplotype network analysis (Figure 4). Thus, the pheripheric position of the Ethiopian and South Eastern Italian (European) haplotypes suggests that the high values of variance registered in these regions likely reflect the stratification of different migratory events, some of which occurred before the expansion and diffusion of the lineage outside the Middle Eastern area. As previously reported [31, 41], also the value of variance in the Omani is affected by the concomitant presence of both pheripheric and centrally expanded haplotypes. In this context, the low variance (0.118) observed in the Marsh Arabs underlines a recent expansion involving few haplotypes, all of which occupying a central position in the J1-Page08 network (Figure 4). In the less frequent J1-M267* clade, only marginally affected by events of expansion, Marsh Arabs shared haplotypes with other Iraqi and Assyrian samples, supporting a common local background (Figure 4).
In conclusion, our data show that the modern Marsh Arabs of Iraq harbour mtDNAs and Y chromosomes that are predominantly of Middle Eastern origin. Therefore, certain cultural features of the area such as water buffalo breeding and rice farming, which were most likely introduced from the Indian sub-continent, only marginally affected the gene pool of the autochthonous people of the region. Moreover, a Middle Eastern ancestral origin of the modern population of the marshes of southern Iraq implies that, if the Marsh Arabs are descendants of the ancient Sumerians, also Sumerians were not of Indian or Southern Asian ancestry.