MBE Advance Access originally published online on July 14, 2004
Molecular Biology and Evolution 2004 21(11):2012-2021; doi:10.1093/molbev/msh209
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Research Article |
Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia
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i*,
* Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia; Genetics Laboratory, Institute of Biological Problems of the North, Russian Academy of Sciences, Magadan, Russia; Institute of Medical Genetics, Tomsk Research Center, Russian Academy of Medical Sciences, Tomsk, Russia; Institute for Anthropological Research, Zagreb, Croatia; || Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia; ¶ Kharkov Clinical Genetic and Prenatal Diagnostics Center, Kharkov, Ukraine; # Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, Russia; ** Laboratoire d'Etude du Polymorphisme de l'ADN, Faculté de Médecine, Nantes, France; Institute of Molecular Biology and Biotechnology and Department of Basic Sciences, University of Athens School of Medicine, Athens, Greece; Department of Forensic Sciences and Toxicology, University of Crete School of Medicine, Heraklion, Greece; Laboratoire de Génétique Moléculaire, Institut Universitaire de Recherche Clinique IURC et CHU, Montpellier, France; |||| Department of Physiology, University of Kiel, Kiel, Germany; ¶¶ Department of Biology, Faculty of Natural Sciences, Tirana University, Tirana, Albania; and ## Department of Medical Laboratory Sciences, Kuwait University, Sulaibikhat, Kuwait
E-mail: evall{at}ut.ee.
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 (Hg) H that comprises nearly a half of the European mitochondrial DNA (mtDNA) pool. Making use of the coding sequence information from 267 mtDNA 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 subhaplogroups, we define fifteen novel subclades 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 subcluster 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 subhaplogroups 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.
Key Words: human mitochondrial DNA • population genetics • phylogeography
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