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.

Mitochondrial ND3 G10398A mutation: a biomarker for breast cancer

“…It is the ancestral haplogroup to almost all European and Oceanian haplogroups in addition to many Asian and Amerindian ones. Superhaplogroup N can be divided into smaller haplogroups such as R, A, I, S, W, X and Y (Kong et al, 2011). Haplogroup N is found in all parts of the world, but has low frequencies in Sub-Saharan Africa, and can be defined by the mutations at position 8701;9540;10398;10873 and 15301 (van Oven and Kayser, 2009).…”

Revisiting the role of the Himalayas in peopling Nepal: insights from mitochondrial genomes

“…43 The ages of the lineages G2a2 (further defined by mutation 16193 and named G2a2 tentatively) and M9a1a2a (characterized by mutations 16145, 16316 and a back mutation at site 16362, and designated as M9a1a2a) (Table 4) were estimated by using the r statistic 44,45 with the suggested calibration rates. 44,46 RESULTS AND DISCUSSION On the basis of the combined information from control-region and partial coding-region segments, the majority (96.34%; 237/246) of the Nepalese mtDNAs could unambiguously be allocated into the defined haplogroups of East Eurasian (36.59%; 90/246), 1,[20][21][22][23][24][25] Table S1, Supplementary Material online), 5 and this pattern remains almost stable for both the East Eurasian (45.11%; 189/419) and South Asian (47.49%; 199/419) components after taking into account the recently reported Nepalese mtDNA data. 5 As for the 21 samples with ambiguously phylogenetic status, completely sequencing their mtDNA genomes revealed that virtually all of these samples in fact belong to the already defined haplogroups, such as M3, M5, M18, M30, M35, M43, D4, R8 and M60.…”

Genetic affinities of central China populations

“…Especially, the updated phylogenetic tree of China with the entire mtDNA genomes Zhao et al, 2009;Kong et al, 2003bKong et al, , 2006Kong et al, , 2011, the quality strategy (Bandelt et al, 2001;Parson and Bandelt, 2007), and the coding region variations typing strategy for verifying the haplogroup status (Yao et al, 2004), mtDNA has offered the fundament for tracing the prehistory origin and migration scenarios at maternal aspect. Thus, the more mtDNA datasets from the crucial geographical region, Hunan, south-central China, will offer more data for tracing the migration and expansion of the anatomically modern human to this area.…”