Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations

Abstract

To elucidate the human colonization process of northern Asia and human dispersals to the Americas, a diverse subset of 71 mitochondrial DNA (mtDNA) lineages was chosen for complete genome sequencing from the collection of 1,432 control-region sequences sampled from 18 autochthonous populations of northern, central, eastern, and southwestern Asia. On the basis of complete mtDNA sequencing, we have revised the classification of haplogroups A, D2, G1, M7, and I; identified six new subhaplogroups (I4, N1e, G1c, M7d, M7e, and J1b2a); and fully characterized haplogroups N1a and G1b, which were previously described only by the first hypervariable segment (HVS1) sequencing and coding-region restriction-fragment-length polymorphism analysis. Our findings indicate that the southern Siberian mtDNA pool harbors several lineages associated with the Late Upper Paleolithic and/or early Neolithic dispersals from both eastern Asia and southwestern Asia/southern Caucasus. Moreover, the phylogeography of the D2 lineages suggests that southern Siberia is likely to be a geographical source for the last postglacial maximum spread of this subhaplogroup to northern Siberia and that the expansion of the D2b branch occurred in Beringia ~7,000 years ago. In general, a detailed analysis of mtDNA gene pools of northern Asians provides the additional evidence to rule out the existence of a northern Asian route for the initial human colonization of Asia.

Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America

“…10,13,[31][32][33] In this connection, we consider challenging the assertion by Tamm et al 34 : 'A novel demographic scenario of relatively recent gene flow from Beringia to deep into western Siberia (Samoyed-speaking Selkups) is the most likely explanation for the phylogeography of haplogroup A2a, which is nested within an otherwise exclusively Native American A2 phylogeny'. The single Selkup mitogenome, attributed to A2a by Tamm et al, 34 indeed belongs to A2a1 (Supplementary Figure S1).…”

“…This conjecture is supported by the overlap of the Yukaghir, Tubalar, Altai-kizhi, Buryat, Tuvan, Chukchi, Naukan, and Canadian Eskimo (Inuit) mtDNA sequences within the D4b2a phylogeny. 10,13,31 The …”

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.…”

Ancient links between Siberians and Native Americans revealed by subtyping the Y chromosome haplogroup Q1a

“…9,10 However, results of mtDNA analysis in northern Eurasian populations do not support a northern Asian migration route out of Africa, but they do predict that there were at least two migrations into South Siberia, one from East Asia and one from West Eurasia. 6 West Eurasian mtDNA haplogroups found in gene pools of South Siberians (for example, N1e, I4, J1b2, N1a, U4 and X2e) demonstrate an obvious link between populations of Siberia and those of West Asia, the Caucasus and East Europe. It is noteworthy that complete mtDNA genome-based coalescence times for haplogroups X2e, J1b2 and N1a suggest their postglacial flows (about 12-15 Ka) from the west.…”

“…1 This is consistent with results of mitochondrial DNA (mtDNA), and Y chromosome studies showing that North-Asian populations have a closer genetic relationship with Central Asian and West-Eurasian populations. [2][3][4][5][6][7] The presence of West-Eurasian genetic components in North and East Asia can be interpreted either as the evidence of ancient migration via the northern route 8 or simply as the reflection of recent population admixture. 9,10 However, results of mtDNA analysis in northern Eurasian populations do not support a northern Asian migration route out of Africa, but they do predict that there were at least two migrations into South Siberia, one from East Asia and one from West Eurasia.…”