Skip to main content
SpringerLink
Log in

Phylogeographic distribution of mitochondrial DNA macrohaplogroup M in India

  • Review Article
  • Published:
Journal of Genetics Aims and scope Submit manuscript

Abstract

Indian subcontinent harbours both the human mtDNA macrohaplogroups M and N, of which M is the most prevalent. In this study, we discuss the overall distribution of the various haplogroups and sub-haplogroups of M among the different castes and tribes to understand their diverse pattern with respect to geographical location and linguistic affiliation of the populations. An overview of about 170 studied populations, belonging to four distinct linguistic families and inhabiting different geographic zones, revealed wide diversity of about 22 major haplogroups of M. The tribal populations belonging to the same linguistic family but inhabiting different geographical regions (Dravidian and Austro-Asiatic speakers) exhibited differences in their haplogroup diversity. The northern and southern region castes showed greater diversity than the castes of other regions.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Anderson S., Bankier A. T., Barrell B. G., de Bruijn M. H., Coulson A. R., Drouin J. et al. 1981 Sequence and organization of the human mitochondrial genome. Nature 290, 457–465.

    Article  PubMed  CAS  Google Scholar 

  • Andrews R. M., Kubacka I., Chinnery P. F., Lightowlers R. N., Turnbull D. M. and Howell N. 1999 Reanalysis and revisions of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 23, 147.

    Article  PubMed  CAS  Google Scholar 

  • Ballinger S. W., Schurr T. G., Torroni A., Gan Y. Y., Hodge J. A., Hassan K. et al. 1992 Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient Mongoloid migrations. Genetics 130, 139–152.

    PubMed  CAS  Google Scholar 

  • Bamshad M. J., Watkins W. S., Dixon M. E., Jorde L. B., Rao B. B., Naidu J. M. et al. 1998 Female gene flow stratifies Hindu castes. Nature 395, 651–652.

    Article  PubMed  CAS  Google Scholar 

  • Bamshad M., Kivisild T., Watkins W. S., Dixon M. E., Ricker C. E., Rao B. B. et al. 2001 Genetic evidence on the origins of Indian caste populations. Genome Res. 11, 994–1004.

    Article  PubMed  CAS  Google Scholar 

  • Basu A., Mukherjee N., Roy S., Sengupta S., Banerjee S., Chakraborty M. et al. 2003 Ethnic India: a genomic view, with special reference to peopling and structure. Genome Res. 13, 2277–2290.

    Article  PubMed  CAS  Google Scholar 

  • Brown W. M. 1980 Polymorphism in mitochondrial DNA of human as revealed by restriction endonuclease analysis. Proc. Natl. Acad. Sci. USA 77, 3605–3609.

    Article  PubMed  CAS  Google Scholar 

  • Cann R. L., Stoneking M. and Wilson A. C. 1987 Mitochondrial DNA and human evolution. Nature 325, 31–36.

    Article  PubMed  CAS  Google Scholar 

  • Chaubey G., Metspalu M., Kivisild T. and Villems R. 2007 Peopling of South Asia: investigating the caste-tribe continuum in India. BioEssays 29, 91–100.

    Article  PubMed  CAS  Google Scholar 

  • Chen Y. S., Torroni A., Excoeffier L., Santachiara-Benerecetti A. S. and Wallace D. C. 1995 Analysis of mtDNA variation in African population reveals the most ancient of all human continent-specific haplogroups. Am. J. Hum. Genet. 57, 133–149.

    PubMed  CAS  Google Scholar 

  • Cordaux R., Saha N., Bentley G. R., Aunger R., Sirajuddin S. M. and Stoneking M. 2003 Mitochondrial DNA analysis reveals diverse histories of tribal populations from India. Eur. J. Hum. Genet. 11, 253–264.

    Article  PubMed  CAS  Google Scholar 

  • Cordaux R., Weiss G., Saha N. and Stoneking M. 2004 The northeast Indian passageway: a barrier or corridor for human migration? Mol. Biol. Evol. 21, 1525–1533.

    Article  PubMed  CAS  Google Scholar 

  • Denaro M., Blanc H., Johnson M. J., Chen K. H., Wilmsen F., Cavalli-Sforza L. L. and Wallace D. C. 1981 Ethnic variation in HpaI endonuclease cleavage patterns of human mitochondrial DNA. Proc. Natl. Acad. Sci. USA 78, 5768–5772.

    Article  PubMed  CAS  Google Scholar 

  • Elson J. L., Andrews R.M., Chinnery P. F., Lightowlers R. N, Turnbull D. M. and Howell N. 2001 Analysis of European mtDNAs for recombination. Am. J. Hum. Genet. 68, 145–153.

    Article  PubMed  CAS  Google Scholar 

  • Endicott P., Gilbert T. P., Stringer C., Laiueza-Fox C., Willerslev E., Hansen J. A. and Cooper A. 2003 The genetic origins of the Andaman Islanders. Am. J. Hum. Genet. 72, 178–184.

    Article  PubMed  CAS  Google Scholar 

  • Endicott P., Metspalu M., Stringer C., Macaulay V., Cooper A. and Sanchez J. J. 2006 Multiplexed SNP typing of ancient DNA clarifies the origin of Andaman haplogroups amongst south Asian tribal populations. PLoS One 1, e81.

    Article  PubMed  Google Scholar 

  • Excoffier L. and Langaney A. 1989 Origin and differentiation of human mitochondrial DNA. Am. J. Hum. Genet. 44, 73–85.

    PubMed  CAS  Google Scholar 

  • Finnilä S. and Majamaa K. 2001 Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population. J. Hum. Genet. 46, 64–69.

    Article  PubMed  Google Scholar 

  • Finnilä S., Hassinen I. E., Ala-Kokko L. and Majamaa K. 2000 Phylogenetic network of the mtDNA haplogroup U in northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis. Am. J. Hum. Genet. 66, 1017–1026.

    Article  PubMed  Google Scholar 

  • Finnilä S., Lehtonen M. S. and Majamaa K. 2001 Phylogenetic network for European mtDNA. Am. J. Hum. Genet. 68, 1475–1484.

    Article  PubMed  Google Scholar 

  • Gaikwad S. and Kashyap V. K. 2005 Molecular insight into the genesis of ranked caste populations of western India based upon polymorphisms across non-recombinant and recombinant regions in genome. BMC Genome Biol. 6, 10.

    Article  Google Scholar 

  • Hammer M. F., Karafet T., Rasanayagam A., Wood E. T., Altheide T. K., Jenkins T. et al. 1998 Out of Africa and back again: nested cladistic analysis of human Y chromosome variation. Mol. Biol. Evol. 15, 427–441.

    PubMed  CAS  Google Scholar 

  • Hebsgaard M. B., Wiuf C. M., Gilbert T. P., Glenner H. and Willerslev E. 2007 Evaluating Neanderthal genetics and phylogeny. J. Mol. Evol. 64, 50–60.

    Article  PubMed  CAS  Google Scholar 

  • Hedges S. B., Kumar S., Tamura K. and Stoneking M. 1992 Human origins and analysis of mitochondrial DNA sequences. Science 255, 737–739.

    Article  PubMed  CAS  Google Scholar 

  • Ingman M. and Gyllensten U. 2001 Analysis of the complete human mtDNA genome: methodology and inferences for human evolution. J. Hered. 92, 454–461.

    Article  PubMed  CAS  Google Scholar 

  • Ingman M., Kaessmann H., Pääbo S. and Gyllensten U. 2000 Mitochondrial genome variation and the origin of modern humans. Nature 408, 708–713.

    Article  PubMed  CAS  Google Scholar 

  • Johnson M. J., Wallace D. C., Ferris S. D., Ratazzi M. C. and Cavalli-Sforza L. L. 1983 Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J. Mol. Evol. 19, 255–271.

    Article  PubMed  CAS  Google Scholar 

  • Kivisild T., Bamshad M. J., Kaldma K., Metspalu M., Metspalu E., Reidla M. et al. 1999 Deep common ancestry of Indian and western-Eurasian mitochondrial DNA lineages. Curr. Biol. 9, 1331–1334.

    Article  PubMed  CAS  Google Scholar 

  • Kivisild T., Rootsi S., Metspalu M., Mastana S., Kaldma K., Parik J. et al. 2003 The genetic heritage of earliest settlers persist in both the Indian tribal and caste populations. Am. J. Hum. Genet. 72, 313–332.

    Article  PubMed  CAS  Google Scholar 

  • Kong Q-P., Yao Y-G., Sun C., Bandelt H-J., Zhu C-L. and Zhang Y-P. 2003 Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. Am. J. Hum. Genet. 73, 671–676.

    Article  PubMed  CAS  Google Scholar 

  • Kumar V., Langsiteh B. T., Biswas S., Babau J. P., Rao T. N., Thangaraj K. et al. 2006 Asian and non-Asian origins of Mon-Khmer and Mundari speaking Austro-Asiatic populations of India. Am. J. Hum. Biol. 18, 461–469.

    Article  PubMed  Google Scholar 

  • Maca-Meyer N., González A. M., Larruga J. M., Flores C. and Cabrera V. C. 2001 Major genomic mitochondrial lineages delineate early human expansions. BMC Genet. 2, 13.

    Article  PubMed  CAS  Google Scholar 

  • Maca-Meyer N., González A. M., Pestano J., Flores C., Larruga J. M. and Cabrera V. C. 2003 Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography. BMC Genet. 4, 15.

    Article  PubMed  Google Scholar 

  • Macaulay V., Richards M., Hickey E., Vega E., Cruciani F., Guida V. et al. 1999 The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am. J. Hum. Genet. 64, 232–249.

    Article  PubMed  CAS  Google Scholar 

  • Macaulay V., Hill C., Achilli A., Rengo C., Clarke D., Meehan W. et al. 2005 Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes. Science 308, 1034–1036.

    Article  PubMed  CAS  Google Scholar 

  • Maddison D. R., Ruvolo M. and Swofford D. L. 1992 Geographic origins of human mitochondrial DNA: phylogenetic evidence from control region sequences. Syst. Biol. 41, 111–124.

    Google Scholar 

  • Metspalu M., Kivisild T., Metspalu E., Parik J., Hudjashov G., Kaldma K. et al. 2004 Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genet. 5, 26.

    Article  PubMed  Google Scholar 

  • Mishmar D., Ruiz-Pesini E., Golik P., Macaulay V., Clark A.G., Hosseini S. et al. 2003 Natural selection shaped regional mtDNA variation in humans. Proc. Natl. Acad. Sci. 100, 171–176.

    Article  PubMed  CAS  Google Scholar 

  • Mountain J. L., Hebert J. M, Bhattacharyya S., Underhill P. A., Ottolenghi C., Gadgil M. and Cavalli-Sforza L. L. 1995 Demographic history of India and mtDNA-sequence diversity. Am. J. Hum. Genet. 56, 979–992.

    PubMed  CAS  Google Scholar 

  • Palanichamy M. G., Sun C., Agrawal S., Bandelt H. J., Kong Q. P. and Khan F. 2004 Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of south Asia. Am. J. Hum. Genet. 75, 966–978.

    Article  PubMed  CAS  Google Scholar 

  • Palanichamy M. G., Agrawal S., Yao Y. G., Kong Q. P., Sun C, Khan F. et al. 2006 comment on “Reconstructing the origin of Andaman islanders”. Science 311, 470.

    Article  PubMed  CAS  Google Scholar 

  • Quintana-Murci L., Semino O., Bandelt H-J., Passarino G., McElreavey K. and Santachiara-Benerecetti A. S. 1999 Genetic evidence of an early exit of Homo sapiens from Africa through eastern Africa. Nat. Genet. 23, 437–441.

    Article  PubMed  CAS  Google Scholar 

  • Quintana-Murci L., Chaix R., Wells R. S., Behar D. M., Sayar H. and Scozzari R. 2004 Where West meets East: the complex mtDNA landscape of the southwest and central Asian corridor. Am. J. Hum. Genet. 74, 827–845.

    Article  PubMed  CAS  Google Scholar 

  • Rajkumar R., Banerjee J., Gunturi H. B., Trivedi R. and Kashyap V. K. 2005 Phylogeny and antiquity of M macrohaplogroup inferred from complete mtDNA sequence of Indian specific lineages. BMC Evol. Biol. 5, 26.

    Article  PubMed  Google Scholar 

  • Ratnagar S. 1995 Archaeological perspectives of early Indian societies. In Recent perspectives of early Indian history (ed. R. Thapar), pp. 1–52. Popular Prakashan, Mumbai.

    Google Scholar 

  • Rogers A. R. and Jorde L. B. 1995 Genetic evidence on modern human origins. Hum. Biol. 67, 1–36.

    PubMed  CAS  Google Scholar 

  • Reddy B. M., Langsteih B. T., Kumar V., Nagaraja T., Reddy A. N. S. and Meka A. 2007 Austro-Asiatic tribes of northeast India provide hitherto missing genetic link between south and southeast Asia. PLoS One 2, e1141.

    Article  PubMed  Google Scholar 

  • Roychoudhury S., Roychoudhury S., Roy S., Dey B., Chakraborty M., Roy M. et al. 2000 Fundamental genomic unity of ethnic India is revealed by analysis of mitochondrial DNA. Curr. Sci. 79, 1182–1192.

    Google Scholar 

  • Roychoudhury S., Roy S., Basu A., Banerjee R., Vishwanathan H., Usha Rani M. V. et al. 2001 Genomic structures and population histories of linguistically distinct tribal groups of India. Hum. Genet. 109, 339–350.

    Article  PubMed  CAS  Google Scholar 

  • Sahoo S. and Kashyap V. K. 2006 Phylogeography of Mitochondrial DNA and Y-Chromosome haplogroups reveal asymmetric gene flow in populations of Eastern India. Am. J. Phy. Anthropol. 131, 84–97.

    Article  Google Scholar 

  • Salas A., Richaqrds M., De la Fe T., Lareu M. V., Sobrino B., Sanchez-Diz P. et al. 2002 The making of the African mtDNA landscape. Am. J. Hum. Genet. 71, 1082–1111.

    Article  PubMed  CAS  Google Scholar 

  • Schurr T. G., Ballinger S. W., Can Y. Y., Hodce J. A., Merriwether D. A., Lawrence D. N. et al. 1990 Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages. Am. J. Hum. Genet. 46, 613–623.

    PubMed  CAS  Google Scholar 

  • Scozzari R., Torroni A., Semino A., Sirugo G., Brega A. and Santachiara-Benerecetti A. S. 1988 Genetic studies on the Senegal population. I. Mitochondrial DNA polymorphisms. Am. J. Hum. Genet. 43, 534–544.

    PubMed  CAS  Google Scholar 

  • Stringer C. B. and Andrews P. 1988 Genetic and fossil evidence for the origin of modern humans. Science 239, 1263–1268.

    Article  PubMed  CAS  Google Scholar 

  • Sun C., Kong Q. P., Palinichamy M. G., Agrawal S., Bandelt H. J., Yao Y. G. et al. 2006 The dazzling array of basal branches in the mtDNA macrohaplogroup M from India as referred from complete genomes. Mol. Biol. Evol. 23, 683–690.

    Article  PubMed  CAS  Google Scholar 

  • Templeton A. R. 1992 Human origins and analysis of mitochondrial DNA sequences. Science 255, 737.

    Article  PubMed  CAS  Google Scholar 

  • Templeton A. 2002 Out of Africa again and again. Nature 416, 45–51.

    Article  PubMed  CAS  Google Scholar 

  • Thangaraj K., Singh L., Reddy A. J., Rao R., Sehgal C. S., Underhill P. A. et al. 2003 Genetic affinities of the Andaman Islanders, a vanishing human population. Curr. Biol. 13, 86–93.

    Article  PubMed  CAS  Google Scholar 

  • Thangaraj K., Chaubey G., Kivisild T., Reddy A. G., Singh V. K., Rasalkar A. and Singh L. 2005a Reconstructing the origin of Andaman Islanders. Science 308, 996.

    Article  PubMed  CAS  Google Scholar 

  • Thangaraj K., Sridhar V., Kivisild T., Reddy A. G., Chaubey G. and Singh V. K. 2005b Different population histories of the Mundariand Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations. Hum. Genet. 116, 507–517.

    Article  PubMed  CAS  Google Scholar 

  • Thangaraj K., Chaubey G., Singh V., Vanniarajan A., Thanseem I., Reddy A. G. and Singh L. 2006 In situ origin of deep rooting lineages of mitochondrial macrohaplogroup M in India. BMC Genomics 7, 151.

    Article  PubMed  Google Scholar 

  • Thanseem I., Thangaraj K., Chaubey G., Singh V. K., Bhaskar V. K. S. L. and Reddy B. M. 2006 Genetic affinities among the lower caste and tribal groups of India: inference from Y chromosome and mitochondrial DNA. BMC Genet. 7, 42.

    Article  PubMed  Google Scholar 

  • Thapar R. 1995 The first millennium B. C. in northern India (up to the end of Mauryan period). In Recent perspectives of early Indian history (ed. R. Thapar), pp. 80–141. Popular Prakashan, Mumbai.

    Google Scholar 

  • Torroni A., Huoponen K., Francalacci P., Petrozzi M., Morelli L. and Scozzari R. 1996 Classification of European mtDNAs from an analysis of three European populations. Genetics 144, 1835–1850.

    PubMed  CAS  Google Scholar 

  • Torroni A., Bandelt H. J., D’Urbano L., Lahermo P., Moral P., Sellitto D. et al. 1998 mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. Am. J. Hum. Genet. 62, 1137–1152.

    Article  PubMed  CAS  Google Scholar 

  • Torroni A., Rengo C., Guida V., Cruciani F., Sellitto D., Coppa A. et al. 2001. Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am. J. Hum. Genet. 69, 1348–1356.

    Article  PubMed  CAS  Google Scholar 

  • Vigilant L., Stoneking M., Harpending H., Hawkes K. and Wilson A. C. 1991 African populations and the evolution of human mitochondrial DNA. Science 253, 1503–1507.

    Article  PubMed  CAS  Google Scholar 

  • Watkins W. S., Bamshad M., Dixon M. E., Bhaskara Rao B., Naidu J. M., Reddy P. G. et al. 1999 Multiple origin of the mtDNA 9 bp deletion in populations of South India. Am. J. Phys. Anthropol. 109, 147–158.

    Article  PubMed  CAS  Google Scholar 

  • Watson E., Forster P., Richards M. and Bandelt H. J. 1997 Mitochondrial footprints of human expansions in Africa. Am. J. Hum. Genet. 61, 691–704.

    Article  PubMed  CAS  Google Scholar 

  • Yao Y. G., Kong Q. P., Bandelt H. J., Kivisild T. and Zheng Y. P. 2002 Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am. J. Hum. Genet. 70, 635–651.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Biological Anthropology Unit, Indian Statistical Institute, Kolkata, 700 108, India

    Suvendu Maji, S. Krithika & T. S. Vasulu

Authors
  1. Suvendu Maji
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. Krithika
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. T. S. Vasulu
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to T. S. Vasulu.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Maji, S., Krithika, S. & Vasulu, T.S. Phylogeographic distribution of mitochondrial DNA macrohaplogroup M in India. J Genet 88, 127–139 (2009). https://doi.org/10.1007/s12041-009-0020-3

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12041-009-0020-3

Keywords

Search

Navigation