Mitogenomes show ancient human migrations to and through North-East India not of males exclusively

New open article Ancient Human Migrations to and through Jammu Kashmir- India were not of Males Exclusively, by Sharma et al., Scientific Reports 8, N. 851 (2018)


Jammu and Kashmir (J&K), the Northern most State of India, has been under-represented or altogether absent in most of the phylogenetic studies carried out in literature, despite its strategic location in the Himalayan region. Nonetheless, this region may have acted as a corridor to various migrations to and from mainland India, Eurasia or northeast Asia. The belief goes that most of the migrations post-late-Pleistocene were mainly male dominated, primarily associated with population invasions, where female migration may thus have been limited. To evaluate female-centered migration patterns in the region, we sequenced 83 complete mitochondrial genomes of unrelated individuals belonging to different ethnic groups from the state. We observed a high diversity in the studied maternal lineages, identifying 19 new maternal sub-haplogroups (HGs). High maternal diversity and our phylogenetic analyses suggest that the migrations post-Pleistocene were not strictly paternal, as described in the literature. These preliminary observations highlight the need to carry out an extensive study of the endogamous populations of the region to unravel many facts and find links in the peopling of India.


To conclude, the extent of presence of variants defining novel HGs or personal variants indicate high diversity in maternal genetic component of the population of J&K. Statistical analyses indicate that maternal population in J&K have undergone expansion, along with other regions of Indian sub-continent9. However, signatures of maternal gene pool expansion in the region past LGM and early Holocene era are also seen, and this is a unique observation for the present study. These distinct signatures and maternal lineages, never reported before in India, apparently suggest that this region might have served as a corridor, yet also as a reservoir for many unreported lineages.

The overall diversity seen in the maternal gene pool of J&K suggests that the migrations to and through this region were not exclusively of males. This data has refined the existing phylogenetic tree and added to the information further diversity of mtDNA in Indian populations. Further, this preliminary study highlights the importance of the region and emphasizes that the populations of this region should be studied extensively to understand the gene pool of Indian populations. Along with the Y chromosomal and mtDNA markers, a study of autosomal markers is also warranted in these population groups. It is anticipated to help in finding some of the missing links in the evolution of modern humans and their migratory history to and from the mainland India and the Indian subcontinent, a future perspective of our study. Further, we would like to emphasize that the endogamous populations should be studied with respect to their individual evolutionary and migration histories, rather than pooling these together as one group, an underlying drawback that has plagued many of the Indian population based studies in the past, diluting individual signatures and masking stories their DNA has to tell.

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