Origin and spread of human mitochondrial DNA haplogroup U7

Hovhannes Sahakyan, Baharak Hooshiar Kashani, Rakesh Tamang, Alena Kushniarevich, Amirtharaj Francis, Marta D Costa, Ajai Kumar Pathak, Zaruhi Khachatryan, Indu Sharma, Mannis van Oven, Jüri Parik, Hrant Hovhannisyan, Ene Metspalu, Erwan Pennarun, Monika Karmin, Erika Tamm, Kristiina Tambets, Ardeshir Bahmanimehr, Tuuli Reisberg, Maere Reidla, Alessandro Achilli, Anna Olivieri, Francesca Gandini, Ugo A. Perego, Nadia Al-Zahery, Massoud Houshmand, Mohammad Hossein Sanati, Pedro Soares, Ekta Rai, Jelena Šarac, Tena Šarić, Varun Sharma, Luisa Pereira, Veronica Fernandes, Viktor Černý, Shirin Farjadian, Deepankar Pratap Singh, Hülya Azakli, Duran Üstek, Natalia Ekomasova (Trofimova), Ildus Kutuev, Sergei Litvinov, Marina Bermisheva, Elza K. Khusnutdinova, Niraj Rai, Manvendra Singh, Vijay Kumar Singh, Alla G. Reddy, Helle-Viivi Tolk, Svjetlana Cvjetan, Lovorka Barac Lauc, Pavao Rudan, Emmanuel N. Michalodimitrakis, Nicholas P. Anagnou, Kalliopi I. Pappa, Maria V. Golubenko, Vladimir Orekhov, Svetlana A Borinskaya, Katrin Kaldma, Monica A. Schauer, Maya Simionescu, Vladislava Gusar, Elena Grechanina, Periyasamy Govindaraj, Mikhail Voevoda, Larissa Damba, Swarkar Sharma, Lalji Singh, Ornella Semino, Doron M. Behar, Levon Yepiskoposyan, Martin B. Richards, Mait Metspalu, Toomas Kivisild, Kumarasamy Thangaraj, Phillip Endicott, Gyaneshwer Chaubey, Antonio Torroni, Richard Villems

Human mitochondrial DNA haplogroup U is among the initial maternal founders in Southwest Asia and Europe and one that best indicates matrilineal genetic continuity between late Pleistocene hunter-gatherer groups and present-day populations of Europe. While most haplogroup U subclades are older than 30 thousand years, the comparatively recent coalescence time of the extant variation of haplogroup U7 (~16-19 thousand years ago) suggests that its current distribution is the consequence of more recent dispersal events, despite its wide geographical range across Europe, the Near East and South Asia. Here we report 267 new U7 mitogenomes that - analysed alongside 100 published ones - enable us to discern at least two distinct temporal phases of dispersal, both of which most likely emanated from the Near East. The earlier one began prior to the Holocene (~11.5 thousand years ago) towards South Asia, while the later dispersal took place more recently towards Mediterranean Europe during the Neolithic (~8 thousand years ago). These findings imply that the carriers of haplogroup U7 spread to South Asia and Europe before the suggested Bronze Age expansion of Indo-European languages from the Pontic-Caspian Steppe region.