Disuniting uniformity: A pied cladistic canvas of mtDNA haplogroup H in Eurasia

Eva Liis Loogväli, Urmas Roostalu, Boris A. Malyarchuk, Miroslava V. Derenko, Toomas Kivisild, Ene Metspalu, Kristiina Tambets, Maere Reidla, Helle Viivi Tolk, Jüri Parik, Erwan Pennarun, Sirle Laos, Arina Lunkina, Maria Golubenko, Lovorka Barać, Marijana Peričić, Oleg P. Balanovsky, Vladislava Gusar, Elsa K. Khusnutdinova, Vadim StepanovValery Puzyrev, Pavao Rudan, Elena V. Balanovska, Elena Grechanina, Christelle Richard, Jean Paul Moisan, André Chaventré, Nicholas P. Anagnou, Kalliopi I. Pappa, Emmanuel N. Michalodimitrakis, Mireille Claustres, Mukaddes Gölge, Ilia Mikerezi, Esien Usanga, Richard Villems

    Research output: Contribution to journalArticlepeer-review


    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.
    Original languageEnglish
    Pages (from-to)2012-2021
    Number of pages9
    JournalMolecular Biology and Evolution
    Issue number11
    Publication statusPublished - Nov 2004


    • Human mitochondrial DNA
    • Phylogeography
    • Population genetics


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