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. 2014 Jan 28:14:17.
doi: 10.1186/1471-2148-14-17.

Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar

Monika Summerer, Jürgen Horst, Gertraud Erhart, Hansi Weißensteiner, Sebastian Schönherr, Dominic Pacher, Lukas Forer, David Horst, Angelika Manhart, Basil Horst, Torpong Sanguansermsri, Anita Kloss-Brandstätter  1
Affiliations

Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar

Monika Summerer et al. BMC Evol Biol. .

Abstract

Background: Myanmar is the largest country in mainland Southeast Asia with a population of 55 million people subdivided into more than 100 ethnic groups. Ruled by changing kingdoms and dynasties and lying on the trade route between India and China, Myanmar was influenced by numerous cultures. Since its independence from British occupation, tensions between the ruling Bamar and ethnic minorities increased.

Results: Our aim was to search for genetic footprints of Myanmar's geographic, historic and sociocultural characteristics and to contribute to the picture of human colonization by describing and dating of new mitochondrial DNA (mtDNA) haplogroups. Therefore, we sequenced the mtDNA control region of 327 unrelated donors and the complete mitochondrial genome of 44 selected individuals according to highest quality standards.

Conclusion: Phylogenetic analyses of the entire mtDNA genomes uncovered eight new haplogroups and three unclassified basal M-lineages. The multi-ethnic population and the complex history of Myanmar were reflected in its mtDNA heterogeneity. Population genetic analyses of Burmese control region sequences combined with population data from neighboring countries revealed that the Myanmar haplogroup distribution showed a typical Southeast Asian pattern, but also Northeast Asian and Indian influences. The population structure of the extraordinarily diverse Bamar differed from that of the Karen people who displayed signs of genetic isolation. Migration analyses indicated a considerable genetic exchange with an overall positive migration balance from Myanmar to neighboring countries. Age estimates of the newly described haplogroups point to the existence of evolutionary windows where climatic and cultural changes gave rise to mitochondrial haplogroup diversification in Asia.

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Figures

Figure 1
Figure 1
Phylogenetic tree of 44 complete mitochondrial genomes. The eight newly described haplogroups are shown in blue, and the corresponding samples as well as three new basal M-lineages (MMR127, MMR211 and MMR305) appear in blue, too. Mutations were annotated as differences to the rCRS; @…back mutation; LGM…last glacial maximum.
Figure 2
Figure 2
Origin of samples and mitochondrial haplogroup distribution of Southeast Asian populations. Although most of the study participants originated from Karen State (red), a broad sample spectrum from nearly all divisions and states of Myanmar (a) was included in this study. b shows the haplogroup distributions of populations from Myanmar and four other Southeast Asian regions. In the white insert box the haplogroup heterogeneity of two ethnic groups of Myanmar is illustrated. The hatched area in the map surrounding the border between Myanmar and Thailand shows the main population area of the Karen people. The Bamar represent the largest ethnic group (68%) in Myanmar. The size of the pie diagrams corresponds to sample size.
Figure 3
Figure 3
Multi-dimensional scaling plot of pairwise Fst-values and haplogroup distribution of populations from Myanmar and 12 other Asian regions. A distinct geographic pattern appeared in the multi-dimensional scaling plot (Stress = 0.086; R2 = 0.970) of pairwise Fst-values: The Myanmar sample fitted very well within the Southeast Asian cluster, the Central Asian populations formed a second cluster, the Korean sample represented East Asia, the Afghanistan population was representative for South Asia and Russia symbolized Western Eurasia. The main haplogroup distributions are displayed as pie charts. The size of the pie diagrams corresponds to sample size. The proportion of N-lineages (without A,B and R9’F) increases from very low percentages in Southeast and East Asia over 50% in Central Asia to more than 75% in Afghanistan and 100% in the sample of Russian origin. The proportion of the American founding haplogroups A,B,C and D displayed an interesting pattern: from inexistent in Russians it increased to more than 50% in East Asian Korea.
Figure 4
Figure 4
Comparison of the Bamar and the Karen people, two main ethnic groups in Myanmar. Pairwise mismatch distribution (MMD) plots (Figure 4, upper panel) indicated different demographic histories with signs of a strong and recent demographic expansion for the Bamar (orange), and evidence of a demographic equilibrium for the Karen people(red). The proportions of individual haplogroups of the two populations are depicted as bar charts next to the MMD-plots, with identical colors corresponding to identical haplogroups. In the lower panel, pairwise Fst-values of Bamar and Karen in comparison with four other Southeast Asian populations were visualized as multi-dimensional scaling (MDS) plot (Stress = 0.032; R2 = 0.995).
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