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. 2017 Apr 7;7:46044.
doi: 10.1038/srep46044.

Origin and Spread of Human Mitochondrial DNA Haplogroup U7

Hovhannes Sahakyan  1   2 Baharak Hooshiar Kashani  3 Rakesh Tamang  4 Alena Kushniarevich  1   5 Amirtharaj Francis  6 Marta D Costa  7   8 Ajai Kumar Pathak  1   9 Zaruhi Khachatryan  2 Indu Sharma  10 Mannis van Oven  11 Jüri Parik  1   9 Hrant Hovhannisyan  2   12 Ene Metspalu  1   9 Erwan Pennarun  1 Monika Karmin  1 Erika Tamm  1   9 Kristiina Tambets  1 Ardeshir Bahmanimehr  2 Tuuli Reisberg  1   9 Maere Reidla  1   9 Alessandro Achilli  3 Anna Olivieri  3 Francesca Gandini  3 Ugo A Perego  3 Nadia Al-Zahery  3 Massoud Houshmand  13 Mohammad Hossein Sanati  13 Pedro Soares  8   14 Ekta Rai  10 Jelena Šarac  1   15 Tena Šarić  1   15 Varun Sharma  10 Luisa Pereira  8   16 Veronica Fernandes  7   8   16 Viktor Černý  17 Shirin Farjadian  18 Deepankar Pratap Singh  6 Hülya Azakli  19 Duran Üstek  20 Natalia Ekomasova Trofimova  1   21   22 Ildus Kutuev  1   21 Sergei Litvinov  1   21 Marina Bermisheva  21 Elza K Khusnutdinova  21   22 Niraj Rai  6 Manvendra Singh  6 Vijay Kumar Singh  6 Alla G Reddy  6 Helle-Viivi Tolk  1 Svjetlana Cvjetan  15   23   24 Lovorka Barac Lauc  15   25 Pavao Rudan  15   26 Emmanuel N Michalodimitrakis  27 Nicholas P Anagnou  28   29 Kalliopi I Pappa  29   30 Maria V Golubenko  31 Vladimir Orekhov  32 Svetlana A Borinskaya  32 Katrin Kaldma  1 Monica A Schauer  33 Maya Simionescu  33 Vladislava Gusar  34 Elena Grechanina  34 Periyasamy Govindaraj  6 Mikhail Voevoda  35   36   37 Larissa Damba  35 Swarkar Sharma  10 Lalji Singh  6 Ornella Semino  3 Doron M Behar  1   38 Levon Yepiskoposyan  2 Martin B Richards  7   39 Mait Metspalu  1 Toomas Kivisild  1   9   40 Kumarasamy Thangaraj  6 Phillip Endicott  41 Gyaneshwer Chaubey  1 Antonio Torroni  3 Richard Villems  1   9   42
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Free PMC article

Origin and Spread of Human Mitochondrial DNA Haplogroup U7

Hovhannes Sahakyan et al. Sci Rep. .
Free PMC article

Abstract

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.

Conflict of interest statement

The authors declare no competing financial interests.

Figures

Figure 1
Figure 1. Schematic Representations of the U7, U7a and U7b Phylogenies.
Subclades are represented by triangles, while single lineages are represented by lines. Subclades and single linage lines are colored according to their geographic origin, as shown in the map (lower right corner). (A) U7 tree. (B) U7a tree. (C) U7b tree. KYA – thousand years ago. Map was generated with Surfer program (version 8, Golden Software, Inc., Golden, CO, USA, https://www.goldensoftware.com/).
Figure 2
Figure 2. Spatial Frequency Distribution Maps of Haplogroups U7, U7a and U7b.
Dots indicate the geographical locations of the surveyed populations. Population frequencies (%) correspond to those listed in Supplementary Table S3. Note the different frequency scales used in different maps. Maps were generated with Surfer program (version 8, Golden Software, Inc., Golden, CO, USA, https://www.goldensoftware.com/).
Figure 3
Figure 3. Bayesian Skyline Plots of Haplogroups U7, U7a and U7b.
The solid line is the median estimate, while dashed lines show the 95% highest posterior density (HPD) limits. Means (filled circles) and HPD intervals (pipes) for coalescence times are provided in the figure with corresponding colors. Ne: effective population size.

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