TY - JOUR
T1 - Disuniting uniformity: A pied cladistic canvas of mtDNA haplogroup H in Eurasia
AU - Loogväli, Eva Liis
AU - Roostalu, Urmas
AU - Malyarchuk, Boris A.
AU - Derenko, Miroslava V.
AU - Kivisild, Toomas
AU - Metspalu, Ene
AU - Tambets, Kristiina
AU - Reidla, Maere
AU - Tolk, Helle Viivi
AU - Parik, Jüri
AU - Pennarun, Erwan
AU - Laos, Sirle
AU - Lunkina, Arina
AU - Golubenko, Maria
AU - Barać, Lovorka
AU - Peričić, Marijana
AU - Balanovsky, Oleg P.
AU - Gusar, Vladislava
AU - Khusnutdinova, Elsa K.
AU - Stepanov, Vadim
AU - Puzyrev, Valery
AU - Rudan, Pavao
AU - Balanovska, Elena V.
AU - Grechanina, Elena
AU - Richard, Christelle
AU - Moisan, Jean Paul
AU - Chaventré, André
AU - Anagnou, Nicholas P.
AU - Pappa, Kalliopi I.
AU - Michalodimitrakis, Emmanuel N.
AU - Claustres, Mireille
AU - Gölge, Mukaddes
AU - Mikerezi, Ilia
AU - Usanga, Esien
AU - Villems, Richard
PY - 2004/11
Y1 - 2004/11
N2 - 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.
AB - 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.
KW - Human mitochondrial DNA
KW - Phylogeography
KW - Population genetics
U2 - 10.1093/molbev/msh209
DO - 10.1093/molbev/msh209
M3 - Article
C2 - 15254257
SN - 1537-1719
VL - 21
SP - 2012
EP - 2021
JO - Molecular Biology and Evolution
JF - Molecular Biology and Evolution
IS - 11
ER -