Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation

Simona Fornarino, Maria Pala, Vincenza Battaglia, Ramona Maranta, Alessandro Achilli, Guido Modiano, Antonio Torroni, Ornella Semino, Silvana A Santachiara-Benerecetti

Central Asia and the Indian subcontinent represent an area considered as a source and a reservoir for human genetic diversity, with many markers taking root here, most of which are the ancestral state of eastern and western haplogroups, while others are local. Between these two regions, Terai (Nepal) is a pivotal passageway allowing, in different times, multiple population interactions, although because of its highly malarial environment, it was scarcely inhabited until a few decades ago, when malaria was eradicated. One of the oldest and the largest indigenous people of Terai is represented by the malaria resistant Tharus, whose gene pool could still retain traces of ancient complex interactions. Until now, however, investigations on their genetic structure have been scarce mainly identifying East Asian signatures.