Mitochondrial DNA diversity and population differentiation in southern East Asia

Abstract

Mitochondrial DNA (mtDNA) polymorphism has been studied systematically in the Han, Tibeto-Buman, and Hmong-Mien ethnic families of southern East Asia. Only two families in this region, Daic and Austro-Asiatic, were still uninvestigated. Daic is a major ethnic family in South China and Southeast Asia and has a long history. To study mtDNA polymorphism within this family, all the Daic populations of China and some of Vietnam (774 individuals from 30 populations) were typed by HVS-1 region sequencing and by PCR-RFLP assays. The observed high Southern type frequencies (B, F, M7, R) confirmed Daic as a typical Southern group. mtDNAs of other populations (126 individuals from 14 populations) from Austro-Asiatic ethnic families neighboring the Daic were also typed. Networks of mtDNA haplogroups in South China were traced from these new data and those from the literature. Ethnic families share many haplogroups, indicating their common origin. However, the two largest families in South China, Daic, and Hmong-Mien, polarized into several ethnic family specific haplogroups. Haplogroup ages were estimated in the networks of high-frequency haplogroups (B, F, M7, R), and they were found to originate about 50,000 years ago. In contrast, ethnic family specific haplogroups all originated around 20,000 years ago. We therefore conclude that modern humans have lived in South China for a long time, inside-ethnogenesis was a rather late event, and frequent inmixing was taking place throughout. MtDNA data of Daic, Austro-Asiatic and other populations in South China has therefore proven pivotal for studying the human history of East Asia.

Pinghua population as an exception of Han Chinese’s coherent genetic structure

“…Population data on the Y chromosome (Li et al 2003;Wen et al 2004a, c;Li 2005;Chen et al 2006;Feng 2007) and mtDNA ( Wen et al 2004a, b, c;Li 2005;Li et al 2007) were retrieved from the literature and included in our comparative analysis. Population dendrograms of Y haplogroups and mtDNA haplogroups were constructed separately by the furthest neighbor method using SPSS ver.…”

“…5). The reference data for the mtDNA HVS-1 motifs are from the literature (Wen et al 2004b;Hill et al 2007;Li et al 2007). The mtDNA networks are always ''sunlike'' with a huge central haplotype and a great number of ''sunlight'' haplotypes around the center.…”

Mitochondrial DNA analysis of Yayoi period human skeletal remains from the Doigahama site

“…A homology search (BLAST search) was conducted using the mtDNA data samples obtained from the East-Asian populations in [59][60][61][62][63][64][65][66][67][68][69][70][71][72] The sequence type of individual no. 913 did not correspond to that of the modern East-Asian populations.…”

7. The Prehistory of Mongolian Populations as Revealed by Studies of Osteological, Dental, and Genetic Variation

“…2006). In addition, haplogroups B and F are commonly seen in East and SEAS populations as well as Tibetans (Ballinger et al 1992;Torroni et al 1994;Melton et al 1995;Qian et al 2001;Schurr and Wallace 2002;Yao et al 2002;Kong et al 2003;Tanaka et al 2004;Macaulay et al 2005;Li et al 2007), but represent a small proportion of the mtDNAs in Mongolians ( Fig. 7.9; see DVD).…”

“…Recent work with SEAS populations has provided insights into the antiquity and diversification of some of these maternal lineages (Macaulay et al 2005;Li et al 2007). Haplogroup ages were estimated for the high frequency haplogroups (B, F, M7, R) in the region, and they were found to originate about 50,000 years ago.…”