Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia.
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.
Loogväli
Eva-Liis
EL
Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia. evall@ut.ee
Roostalu
Urmas
U
Malyarchuk
Boris A
BA
Derenko
Miroslava V
MV
Kivisild
Toomas
T
Metspalu
Ene
E
Tambets
Kristiina
K
Reidla
Maere
M
Tolk
Helle-Viivi
HV
Parik
Jüri
J
Pennarun
Erwan
E
Laos
Sirle
S
Lunkina
Arina
A
Golubenko
Maria
M
Barac
Lovorka
L
Pericic
Marijana
M
Balanovsky
Oleg P
OP
Gusar
Vladislava
V
Khusnutdinova
Elsa K
EK
Stepanov
Vadim
V
Puzyrev
Valery
V
Rudan
Pavao
P
Balanovska
Elena V
EV
Grechanina
Elena
E
Richard
Christelle
C
Moisan
Jean-Paul
JP
Chaventré
André
A
Anagnou
Nicholas P
NP
Pappa
Kalliopi I
KI
Michalodimitrakis
Emmanuel N
EN
Claustres
Mireille
M
Gölge
Mukaddes
M
Mikerezi
Ilia
I
Usanga
Esien
E
Villems
Richard
R
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
D004272:DNA, Mitochondrial