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Origin and diffusion of mtDNA haplogroup X |
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| Authors: | Reidla Maere Kivisild Toomas Metspalu Ene Kaldma Katrin Tambets Kristiina Tolk Helle-Viivi Parik Jüri Loogväli Eva-Liis Derenko Miroslava Malyarchuk Boris Bermisheva Marina Zhadanov Sergey Pennarun Erwan Gubina Marina Golubenko Maria Damba Larisa Fedorova Sardana Gusar Vladislava Grechanina Elena Mikerezi Ilia Moisan Jean-Paul Chaventré André Khusnutdinova Elsa Osipova Ludmila Stepanov Vadim Voevoda Mikhail Achilli Alessandro Rengo Chiara Rickards Olga De Stefano Gian Franco Papiha Surinder Beckman Lars Janicijevic Branka Rudan Pavao Anagnou Nicholas Michalodimitrakis Emmanuel Koziel Slawomir |
| Institution: | 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 |
| Abstract: | 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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