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

Origin and spread of human mitochondrial DNA haplogroup U7.

Author information

1
Evolutionary Biology Group, Estonian Biocentre, Tartu 51010, Estonia.
2
Laboratory of Ethnogenomics, Institute of Molecular Biology of National Academy of Sciences, Yerevan 0014, Armenia.
3
Dipartimento di Biologia e Biotecnologie "L. Spallanzani", Università di Pavia, Pavia 27100, Italy.
4
Department of Zoology, University of Calcutta, Kolkata 700 019, India.
5
Institute of Genetics and Cytology, National Academy of Sciences, Minsk 220072, Belarus.
6
CSIR-Centre for Cellular and Molecular Biology, Hyderabad 500 007, India.
7
Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK.
8
Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Porto 4200-135, Portugal.
9
Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu 51010, Estonia.
10
Human Genetics Research Group, Department of Biotechnology, Shri Mata Vaishno Devi University, Katra 182320, India.
11
Utrecht 3523 GN, The Netherlands.
12
Russian-Armenian University, Yerevan 0051, Armenia.
13
Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran 14965/161, Iran.
14
Departamento de Biologia, CBMA (Centro de Biologia Molecular e Ambiental), Universidade do Minho, Braga 4710-057, Portugal.
15
Institute for Anthropological Research, Zagreb 10000, Croatia.
16
Instituto de Investigação e Inovação em Saúde, Universidade do Porto (i3S), Porto 4200-135, Portugal.
17
Department of Anthropology and Human Genetics, Faculty of Science, Charles University, Prague 128-43, Czech Republic.
18
Department of Immunology, Allergy Research Center, Shiraz University of Medical Sciences, Shiraz 71348-45794, Iran.
19
Genetic Department, Institute of Experimental Medicine, Istanbul University, Istanbul 33326, Turkey.
20
Department of Medical Genetics and REMER, Faculty of Medicine, Medipol University, Istanbul, 34810 Turkey.
21
Institute of Biochemistry and Genetics, Ufa Scientific Center of the Russian Academy of Sciences, Ufa 450054, Russia.
22
Department of Genetics and Fundamental Medicine of Bashkir State University, Ufa 450076, Russia.
23
Department of Molecular Biology, Ruđer Bošković Institute, Zagreb 10000, Croatia.
24
Mediterranean Institute for Life Sciences, Split 21000, Croatia.
25
Croatian Science Foundation, Zagreb 10000, Croatia.
26
Anthropological Centre of the Croatian Academy of Sciences and Arts, 10000 Zagreb, Croatia.
27
Department of Forensic Sciences and Toxicology, University of Crete, School of Medicine, Heraklion 71110, Greece.
28
Laboratory of Biology, University of Athens, School of Medicine, Athens 115 27, Greece.
29
Foundation for Biomedical Research of the Academy of Athens (IIBEAA), Athens 115 27, Greece.
30
First Department of Obstetrics and Gynecology, University of Athens, School of Medicine, Athens 115 27, Greece.
31
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk 634050, Russia.
32
Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119333, Russia.
33
Institute of Cellular Biology and Pathology "Nicolae Simionescu", Bucharest PO Box 35-14, Romania.
34
Kharkiv Specialized Medical Genetic Centre (KSMGC), Kharkiv 61022, Ukraine.
35
Institute of Internal and Preventive Medicine, SB RAS, Novosibirsk 630089, Russia.
36
Institute of Cytology and Genetics SB RAS, Novosibirsk 630090, Russia.
37
Novosibirsk State University, Novosibirsk 630090, Russia.
38
Clalit National Cancer Control and Personalized Medicine Program, Carmel Medical Center, Haifa 3436212, Israel.
39
Department of Biological Sciences, School of Applied Sciences, University of Huddersfield, Huddersfield HD1 3DH, United Kingdom.
40
Department of Archaeology and Anthropology, University of Cambridge, Cambridge CB2 1QH, United Kingdom.
41
Musée de l'Homme, Paris 75116, France.
42
Estonian Academy of Sciences, Tallinn 10130, Estonia.

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.

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