title: Large-scale mtDNA screening reveals a surprising matrilineal complexity in east Asia and its implications to the peopling of the region.
abstract: 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.
authors: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China. kongqp@yahoo.com.cn
authors: Qing-Peng
authors: QP
authors: Kong
authors: Chang
authors: C
authors: Sun
authors: Hua-Wei
authors: HW
authors: Wang
authors: Mian
authors: M
authors: Zhao
authors: Wen-Zhi
authors: WZ
authors: Wang
authors: Li
authors: L
authors: Zhong
authors: Xiao-Dan
authors: XD
authors: Hao
authors: Hui
authors: H
authors: Pan
authors: Sha-Yan
authors: SY
authors: Wang
authors: Yao-Ting
authors: YT
authors: Cheng
authors: Chun-Ling
authors: CL
authors: Zhu
authors: Shi-Fang
authors: SF
authors: Wu
authors: Li-Na
authors: LN
authors: Liu
authors: Jie-Qiong
authors: JQ
authors: Jin
authors: Yong-Gang
authors: YG
authors: Yao
authors: Ya-Ping
authors: YP
authors: Zhang
mesh_terms: 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
chemical_list: D004272:DNA, Mitochondrial