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MBE Advance Access published online on July 14, 2004
Molecular Biology and Evolution, doi:10.1093/molbev/msh209
Molecular Biology and Evolution © Society for Molecular Biology and Evolution 2004; all rights reserved
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Accepted June 1, 2004

Original Articles

Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia

Eva-Liis Loogväli 1*, Urmas Roostalu 1, Boris A. Malyarchuk 2, Miroslava V. Derenko 2, Toomas Kivisild 1, Ene Metspalu 1, Kristiina Tambets 1, Maere Reidla 1, Helle-Viivi Tolk 1, Jüri Parik 1, Erwan Pennarun 1, Sirle Laos 1, Arina Lunkina 2, Maria Golubenko 3, Lovorka Barac 4, Marijana Pericic 4, Oleg P. Balanovsky 5, Vladislava Gusar 6, Elsa K. Khusnutdinova 7, Vadim Stepanov 8, Valery Puzyrev 8, Pavao Rudan 9, Elena V. Balanovska 10, Elena Grechanina 11, Christelle Richard 12, Jean-Paul Moisan 12, André Chaventré 12, Nicholas P. Anagnou 13, Kalliopi I. Pappa 13, Emmanuel N. Michalodimitrakis 14, Mireille Claustres 15, Mukaddes Gölge 16, Ilia Mikerezi 17, Esien Usanga 18, Richard Villems 1

1 Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia; Estonian Biocentre, Tartu, Estonia
2 Genetics Laboratory, Institute of Biological Problems of the North, Russian Academy of Sciences, Magadan, Russia
3 Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia; Estonian Biocentre, Tartu, Estonia; Institute of Medical Genetics, Tomsk Research Center, Russian Academy of Medical Sciences, Tomsk, Russia
4 Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia; Estonian Biocentre, Tartu, Estonia; Institute for Anthropological Research, Zagreb, Croatia
5 Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia; Estonian Biocentre, Tartu, Estonia; Research centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia
6 Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia; Estonian Biocentre, Tartu, Estonia; Kharkov Clinical Genetic and Prenatal Diagnostics Center, Kharkov, Ukraine
7 Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Russia
8 Institute of Medical Genetics, Tomsk Research Center, Russian Academy of Medical Sciences, Tomsk, Russia
9 Institute for Anthropological Research, Zagreb, Croatia
10 Research centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia
11 Kharkov Clinical Genetic and Prenatal Diagnostics Center, Kharkov, Ukraine
12 Laboratoire d'Etude du Polymorphisme de l'ADN, Faculté de Médecine, Nantes, France
13 Institute of Molecular Biology and Biotechnology and Department of Basic Sciences, University of Athens School of Medicine, Athens, Greece
14 Department of Forensic Sciences and Toxicology, University of Crete School of Medicine, Heraklion, Greece
15 Laboratoire de Génétique Moléculaire, Institut Universitaire de Recherche Clinique IURC et CHU, Montpellier, France
16 Department of Physiology, University of Kiel, Kiel, Germany
17 Department of Biology, Faculty of Natural Sciences, Tirana University, Tirana, Albania
18 Department of Medical Laboratory Sciences, Kuwait University, Sulaibikhat, Kuwait

* To whom correspondence should be addressed. E-mail: evall{at}ut.ee.


  Abstract

It has been often stated that the overall pattern of human maternal lineages in Europe is largely uniform. Yet this uniformity may also result from an insufficient depth and width of the phylogenetic analysis, in particular of the predominant western Eurasian haplogroup H that comprises nearly a half of the European mitochondrial DNA (mtDNA) pool. Making use of the coding sequence information from 267 mtDNA haplogroup (Hg) H sequences, we have analyzed 830 mtDNA genomes, from 11 European, Near and Middle Eastern, Central Asian and Altaian populations. In addition to the seven previously specified sub-haplogroups, we define fifteen novel sub-clades of Hg H present in the extant human populations of western Eurasia. The refinement of the phylogenetic resolution has allowed us to resolve a large number of homoplasies in phylogenetic trees of Hg H based on the first hypervariable segment (HVS-I) of mtDNA. As many as 50 out of 125 polymorphic positions in HVS-I were found to be mutated in more than one sub-cluster of Hg H. The phylogeographic analysis revealed that sub-Hgs H1*, H1b, H1f, H2a, H3, H6a, H6b and H8 demonstrate distinct phylogeographic patterns. The monophyletic sub-haplogroups of Hg H provide means for further progress in the understanding of the (pre)historic movements of women in Eurasia and for the understanding of the present-day genetic diversity of western Eurasians in general.

Keywords: human mitochondrial DNA; population genetics; phylogeography.
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