Large-scale mtDNA screening reveals a surprising matrilineal complexity in east Asia and its implications to the peopling of the region.
In order to achieve a thorough coverage of the basal lineages in the Chinese matrilineal pool, we have sequenced the mitochondrial DNA (mtDNA) control region and partial coding region segments of 6,093 mtDNAs sampled from 84 populations across China. By comparing with the available complete mtDNA sequences, 194 of those mtDNAs could not be firmly assigned into the available haplogroups. Completely sequencing 51 representatives selected from these unclassified mtDNAs identified a number of novel lineages, including five novel basal haplogroups that directly emanate from the Eurasian founder nodes (M and N). No matrilineal contribution from the archaic hominid was observed. Subsequent analyses suggested that these newly identified basal lineages likely represent the genetic relics of modern humans initially peopling East Asia instead of being the results of gene flow from the neighboring regions. The observation that most of the newly recognized mtDNA lineages have already differentiated and show the highest genetic diversity in southern China provided additional evidence in support of the Southern Route peopling hypothesis of East Asians. Specifically, the enrichment of most of the basal lineages in southern China and their rather ancient ages in Late Pleistocene further suggested that this region was likely the genetic reservoir of modern humans after they entered East Asia.
Kong
Qing-Peng
QP
State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China. kongqp@yahoo.com.cn
Sun
Chang
C
Wang
Hua-Wei
HW
Zhao
Mian
M
Wang
Wen-Zhi
WZ
Zhong
Li
L
Hao
Xiao-Dan
XD
Pan
Hui
H
Wang
Sha-Yan
SY
Cheng
Yao-Ting
YT
Zhu
Chun-Ling
CL
Wu
Shi-Fang
SF
Liu
Li-Na
LN
Jin
Jie-Qiong
JQ
Yao
Yong-Gang
YG
Zhang
Ya-Ping
YP
D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000032:analysis*; D005006:Ethnicity / Q000235:genetics*; D005202:Asia, Eastern; D014644:Genetic Variation; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA
D004272:DNA, Mitochondrial