title: Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia.
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 (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.
authors.affiliation: Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia. evall@ut.ee
authors.forename: Eva-Liis
authors.initials: EL
authors.lastname: Loogväli
authors.forename: Urmas
authors.initials: U
authors.lastname: Roostalu
authors.forename: Boris A
authors.initials: BA
authors.lastname: Malyarchuk
authors.forename: Miroslava V
authors.initials: MV
authors.lastname: Derenko
authors.forename: Toomas
authors.initials: T
authors.lastname: Kivisild
authors.forename: Ene
authors.initials: E
authors.lastname: Metspalu
authors.forename: Kristiina
authors.initials: K
authors.lastname: Tambets
authors.forename: Maere
authors.initials: M
authors.lastname: Reidla
authors.forename: Helle-Viivi
authors.initials: HV
authors.lastname: Tolk
authors.forename: Jüri
authors.initials: J
authors.lastname: Parik
authors.forename: Erwan
authors.initials: E
authors.lastname: Pennarun
authors.forename: Sirle
authors.initials: S
authors.lastname: Laos
authors.forename: Arina
authors.initials: A
authors.lastname: Lunkina
authors.forename: Maria
authors.initials: M
authors.lastname: Golubenko
authors.forename: Lovorka
authors.initials: L
authors.lastname: Barac
authors.forename: Marijana
authors.initials: M
authors.lastname: Pericic
authors.forename: Oleg P
authors.initials: OP
authors.lastname: Balanovsky
authors.forename: Vladislava
authors.initials: V
authors.lastname: Gusar
authors.forename: Elsa K
authors.initials: EK
authors.lastname: Khusnutdinova
authors.forename: Vadim
authors.initials: V
authors.lastname: Stepanov
authors.forename: Valery
authors.initials: V
authors.lastname: Puzyrev
authors.forename: Pavao
authors.initials: P
authors.lastname: Rudan
authors.forename: Elena V
authors.initials: EV
authors.lastname: Balanovska
authors.forename: Elena
authors.initials: E
authors.lastname: Grechanina
authors.forename: Christelle
authors.initials: C
authors.lastname: Richard
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Moisan
authors.forename: André
authors.initials: A
authors.lastname: Chaventré
authors.forename: Nicholas P
authors.initials: NP
authors.lastname: Anagnou
authors.forename: Kalliopi I
authors.initials: KI
authors.lastname: Pappa
authors.forename: Emmanuel N
authors.initials: EN
authors.lastname: Michalodimitrakis
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Mukaddes
authors.initials: M
authors.lastname: Gölge
authors.forename: Ilia
authors.initials: I
authors.lastname: Mikerezi
authors.forename: Esien
authors.initials: E
authors.lastname: Usanga
authors.forename: Richard
authors.initials: R
authors.lastname: Villems
mesh_terms: D001208:Asia; D004272:DNA, Mitochondrial / Q000235:genetics*; D005006:Ethnicity; D005060:Europe; D019143:Evolution, Molecular; D005260:Female; D005788:Gene Pool; D014644:Genetic Variation; D005828:Genetics, Population; D005843:Geography; D006239:Haplotypes; D006801:Humans; D008957:Models, Genetic; D009035:Mothers; D005810:Multigene Family; D009154:Mutation; D010802:Phylogeny
chemical_list: D004272:DNA, Mitochondrial