Copyright © 2003 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 73, Issue 5, 1178-1190, 1 November 2003
doi:10.1086/379380
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Origin and Diffusion of mtDNA Haplogroup X
Maere Reidla1, 
, 
, Toomas Kivisild1, Ene Metspalu1, Katrin Kaldma1, Kristiina Tambets1, Helle-Viivi Tolk1, Jüri Parik1, Eva-Liis Loogväli1, Miroslava Derenko2, Boris Malyarchuk2, Marina Bermisheva1, 3, Sergey Zhadanov1, 4, Erwan Pennarun1, 5, Marina Gubina1, 4, Maria Golubenko1, 6, Larisa Damba1, 4, Sardana Fedorova1, 7, Vladislava Gusar1, 8, Elena Grechanina8, Ilia Mikerezi9, Jean-Paul Moisan5, André Chaventré5, Elsa Khusnutdinova3, Ludmila Osipova4, Vadim Stepanov6, Mikhail Voevoda4, Alessandro Achilli10, Chiara Rengo10, Olga Rickards11, Gian Franco De Stefano11, Surinder Papiha12, Lars Beckman13, Branka Janicijevic14, Pavao Rudan14, Nicholas Anagnou15, Emmanuel Michalodimitrakis16, Slawomir Koziel17, Esien Usanga18, Tarekegn Geberhiwot19, Corinna Herrnstadt20, Neil Howell20, Antonio Torroni10 and Richard Villems1
1 Department of Evolutionary Biology, Institute of Molecular and Cell Biology, Tartu University and Estonian Biocentre, Tartu, Estonia
2 Genetic Laboratory, Institute of Biological Problems of the North, Magadan, Russia
3 Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Russia
4 Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia
5 Laboratoire d’Etude du Polymorphisme de l’ADN, Faculté de Médecine, Nantes, France
6 Institute of Medical Genetics, Siberian Branch of the Russian Academy of Medical Sciences, Tomsk, Russia
7 Yakut Scientific Center, Russian Academy of Medical Sciences, and Government of Republic Sakha (Yakutia), Yakutsk, Russia
8 Center of Clinical Genetics and Prenatal Diagnostics, Kharkov, Ukraine
9 Department of Biology, Faculty of Natural Sciences, Tirana University, Tirana, Albania
10 Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy
11 Dipartimento di Biologia, Università “Tor Vergata,” Rome
12 Department of Human Genetics, University of Newcastle-upon-Tyne, Newcastle-upon-Tyne
13 Gotland University, Visby, Sweden
14 Institute for Anthropological Research, Zagreb, Croatia
15 Institute of Molecular Biology and Biotechnology and Department of Basic Sciences, University of Crete School of Medicine, Heraklion, Greece
16 Department of Forensic Sciences and Toxicology, University of Crete School of Medicine, Heraklion, Greece
17 Institute of Anthropology, Wroclaw, Poland
18 Department of Haematology, University of Calabar, Calabar, Nigeria
19 Birmingham and Solihull Teaching Hospital, Birmingham
20 MitoKor, San Diego, CA
Address for correspondence and reprints: Dr. Maere Reidla, Department of Evolutionary Biology, Tartu University, Estonian Biocentre, Riia 23, Tartu, 51010, EstoniaAbstract
A maximum parsimony tree of 21 complete mitochondrial DNA (mtDNA) sequences belonging to haplogroup X and the survey of the haplogroup-associated polymorphisms in 13,589 mtDNAs from Eurasia and Africa revealed that haplogroup X is subdivided into two major branches, here defined as “X1” and “X2.” The first is restricted to the populations of North and East Africa and the Near East, whereas X2 encompasses all X mtDNAs from Europe, western and Central Asia, Siberia, and the great majority of the Near East, as well as some North African samples. Subhaplogroup X1 diversity indicates an early coalescence time, whereas X2 has apparently undergone a more recent population expansion in Eurasia, most likely around or after the last glacial maximum. It is notable that X2 includes the two complete Native American X sequences that constitute the distinctive X2a clade, a clade that lacks close relatives in the entire Old World, including Siberia. The position of X2a in the phylogenetic tree suggests an early split from the other X2 clades, likely at the very beginning of their expansion and spread from the Near East.
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