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Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations

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An Erratum to this article was published on 13 January 2006

Abstract

Length variation in the human mtDNA intergenic region between the cytochrome oxidase II (COII) and tRNA lysine (tRNAlys) genes has been widely studied in world populations. Specifically, Austronesian populations of the Pacific and Austro-Asiatic populations of southeast Asia most frequently carry the 9-bp deletion in that region implying their shared common ancestry in haplogroup B. Furthermore, multiple independent origins of the 9-bp deletion at the background of other mtDNA haplogroups has been shown in populations of Africa, Europe, Australia, and India. We have analyzed 3293 Indian individuals belonging to 58 populations, representing different caste, tribal, and religious groups, for the length variation in the 9-bp motif. The 9-bp deletion (one copy) and insertion (three copies) alleles were observed in 2.51% (2.15% deletion and 0.36% insertion) of the individuals. The maximum frequency of the deletion (45.8%) was observed in the Nicobarese in association with the haplogroup B5a D-loop motif that is common throughout southeast Asia. The low polymorphism in the D-loop sequence of the Nicobarese B5a samples suggests their recent origin and a founder effect, probably involving migration from southeast Asia. Interestingly, none of the 302 (except one Munda sample, which has 9-bp insertion) from Mundari-speaking Austro-Asiatic populations from the Indian mainland showed the length polymorphism of the 9-bp motif, pointing either to their independent origin from the Mon-Khmeric-speaking Nicobarese or to an extensive admixture with neighboring Indo-European-speaking populations. Consistent with previous reports, the Indo-European and Dravidic populations of India showed low frequency of the 9-bp deletion/insertion. More than 18 independent origins of the deletion or insertion mutation could be inferred in the phylogenetic analysis of the D-loop sequences.

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Acknowledgements

We thank Peter A. Underhill, V. Kumar, V. R. Rao, and M. W. Pandit for their valuable comments during the preparation of this manuscript. We are grateful to the students and staff of various colleges and universities, who actively participated in this study by collecting samples from the various ethnic groups. This study was supported by the Council of Scientific and Industrial Research (CSIR), Government of India, New Delhi.

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Authors and Affiliations

  1. Centre for Cellular and Molecular biology, Uppal Road, Hyderabad, 500 007, India

    Kumarasamy Thangaraj, Vempati Sridhar, Alla G. Reddy, Gyaneshwer Chaubey, Vijay Kumar Singh, Suminder Kaur & Lalji Singh

  2. Estonian Biocenter, Riia23, Tartu, 51010, Estonia

    Toomas Kivisild

  3. Institute of Microbiology & Biotechnology, Barkatullah University, Bhopal, India

    Pooja Agarawal, Thrimulaisamy P. Velavan & Divi Udaykumar

  4. Department of Biotechnology, VBS Purvanchal University, Jaunpur, India

    Amit Rai & Niraj Kumar

  5. Department of Biotechnology, Bundelkhand University, Jhansi, India

    Jalaj Gupta, Rajanbabu Suganthan & Rashmi Kumar

  6. Department of Biotechnology, APS University, Rewa, India

    Chandana Basu Mallick

  7. Department of Biotechnology, Allahabad Agricultural University, Allahabad, India

    Rachana Mishra

  8. Department of Biosciences, Sardar Patel University, Vallabh Vidyanagar, India

    Arif Khan

  9. Department of Biotechnology, Kandaswamy Kandars College, P. Velur, India

    Chitikineni Annapurna

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  1. Kumarasamy Thangaraj
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Correspondence to Lalji Singh.

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An erratum to this article is available at http://dx.doi.org/10.1007/s00439-005-0088-7.

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Thangaraj, K., Sridhar, V., Kivisild, T. et al. Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations. Hum Genet 116, 507–517 (2005). https://doi.org/10.1007/s00439-005-1271-6

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