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

Monika Summerer1, Jürgen Horst2, Gertraud Erhart1, Hansi Weißensteiner13, Sebastian Schönherr13, Dominic Pacher13, Lukas Forer13, David Horst4, Angelika Manhart1, Basil Horst5, Torpong Sanguansermsri6 and Anita Kloss-Brandstätter1*

Author Affiliations

1 Division of Genetic Epidemiology, Innsbruck Medical University, Schöpfstraße 41, 6020 Innsbruck, Austria

2 Institut für Humangenetik, Universität Münster, Münster, Germany

3 Institute of Computer Science, University of Innsbruck, Innsbruck, Austria

4 Institute of Pathology, LMU Munich, Munich, Germany

5 Department of Dermatology, Columbia University, New York, NY, USA

6 Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand

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BMC Evolutionary Biology 2014, 14:17  doi:10.1186/1471-2148-14-17

Published: 28 January 2014



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.


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.


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.

Haplogroup; Complete mtDNA genome; Control region; Population genetics; Migration; Gene flow; Burma; Southeast Asia; Karen; Bamar; Demographic history