Abstract
The spectrum of mitochondrial DNA (mtDNA) variation in India clearly supports the African origin of modern humans. In their deepest branching points Indian mtDNA clusters share common combinations of mutations with clusters specific for eastern and western Eurasian populations. However, their further diversification appears to be specific to India. The sub-clusters of haplogroup U in India and in Europe overlap only at the basis of the multifurcation. Also the structure of Asian dominant haplogroup M in India differs profoundly from that of other Asian populations. Around 10% of Indian mtDNAs are found around a phylogenetically crucial node—R*—which is ancestral to more than 90% of typically European mtDNAs and also to a portion of Asian specific mtDNA lineages such as haplogroups B and F. Coalescence estimates, calculated separately for these three major clusters in India, indicate a major radiation of mtDNA lineages starting approximately 50,000 years ago. The fraction of lineages attributable to a recent influx of maternal genes either from eastern or western Eurasia is below 10%. Furthermore, their spread does not correlate with the spread of the Sanskrit-and Dravidian-based languages in India.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Aitken MJ, Valladas H (1992) Luminescence dating relevant to human origins. Philos Trans R Soc Lond B Biol Sci 337:139–44.
Anderson S, Bankier AT, Barren BG, de Bruijn MH, Coulson AR, Drouin J, Eperon ICet al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–65.
Bailliet G, Rothhammer F, Carnese FR, Bravi CM, Bianchi NO (1994) Founder mitochondrial haplotypes in Amerindian populations. Am J Hum Genet 55:27–33.
Ballinger SW, Schurr TG, Torroni A, Gan YY, Hodge JA, Hassan K, Chen KHet al. (1992) Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics 130:139–52.
Bamshad M, Rao BB, Naidu JM, Prasad BVR, Watkins S, Jorde LB (1997) Response to Spurdle et al. Human Biology 69:432–435.
Bamshad MJ, Watkins WS, Dixon ME, Jorde LB, Rao BB, Naidu JM, Prasad BVet al. (1998) Female gene flow stratifies Hindu castes. Nature 395:651–2.
Brega A, Gardella R, Semino O, Morpurgo G, Astaldi Ricotti GB, Wallace DC, Santachiara Benerecetti AS (1986) Genetic studies on the Tharu population of Nepal: restriction endonuclease polymorphisms of mitochondrial DNA. Am J Hum Genet 39:502–12.
Cann RL, Stoneking M, Wilson AC (1987) Mitochondrial DNA and human evolution [see comments]. Nature 325:31–6.
Chen YS, Torroni A, Excoffier L, Santachiara-Benerecetti AS, Wallace DC (1995) Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet 57:133–49.
Comas D, Calafell F, Mateu E, Perez-Lezaun A, Bosch E, Martinez-Arias R, Clarimon Jet al. (1998) Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations. Am J Hum Genet 63:1824–38.
Deraniyagala SU (1998) Pre-and protohistoric settlement in Sri Lanka. XIII U.LS.P. Congress Proceedings. Vol. 5., A.B.A.C.O. s.r.l., Forli, pp. 277–285.
Foley R (1998) The context of human genetic evolution. Genome Res 8:339–47.
Forster P, Harding R, Torroni A, Bandelt HJ (1996) Origin and evolution of Native American mtDNA variation: a reappraisal. Am J Hum Genet 59:935–45.
Horai S, Murayama K, Hayasaka K, Matsubayashi S, Hattori Y, Fucharoen G, Harihara Set al. (1996) mtDNA polymorphism in East Asian Populations, with special reference to the peopling of Japan. Am J Hum Genet 59:579–90.
Joshi RV (1996) SOUTH ASIA in the period of Homo sapiens neanderthalensis and contemporaries (Middle Palaeolithic) History of Humanity. Vol. 1. UNESCO, pp 162–164.
Kolman C, Sambuughin N, Bermingham E (1996) Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders. Genetics 142:1321–34.
Krings M, Stone A. Schmitz RW, Krainitzki H, Stoneking M, Paabo S (1997) Neanderthal DNA sequences and the origin of modern humans. Cell 90:19–30.
Lum JK, Cann RL, Martinson JJ, Jorde LB (1998) Mitochondria) and nuclear genetic relationships among Pacific Island and Asian populations. Am J Hum Genet 63:613–24.
Lutz S, Weisser HJ, Heizmann J, Pollak S (1998) Location and frequency of polymorphic positions in the mtDNA control region of individuals from Germany. Int J Legal Med 111:67–77.
Macaulay VA, Richards MB, Hickcy E, Vega E, Cruciani F, Guida V, Scozzari Ret al. (1999) The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs. Am J Hum Genet 64.252–5
Mastana SS, Garlick JP, Papiha SS (1991) Serogenetic studies of the Lobanas in north-west India. Anthropol Anz 49:177–86.
McDermott F, Grun R, Stringer CB, Hawkesworth CJ (1993) Mass-spectrometric U-series dates for Israeli Neanderthal/early modern hominid sites. Nature 363:252–5.
Melton T, Stoneking M (1996) Extent of heterogeneity in mitochondrial DNA of ethnic Asian populations. J Forensic Sci 41:591–602.
Mountain JL, Hebert JM, Bhattacharyya S, Underhill PA, Ottolenghi C, Gadgil M, Cavalli-Sforza LL (1995) Demographic history of India and mtDNA-sequence diversity. Am J Hum Genet 56:979–92.
Passarino G, Semino O, Bernini LF, Santachiara-Benerecetti AS (1996) Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms. Am J Hum Genet 59:927–34.
Passarino G, Semino O, Modiano G, Bernini LF, antachiara Benerecetti AS (1996) mtDNA provides the first known marker distinguishing proto-Indians from the other Caucasoids; it probably predates the diversification between Indians and Orientals. Ann Hum Biol 23:121–126.
Passarino G, Semino O, Modiano G, Santachiara-Benerecetti AS (1993) COIUIRNA(Lys) intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (southern Nepal) have Oriental affinities. Am J Hum Genet 53:609–18.
Passarino G, Semino O, Pepe G, Shrestha SL, Modiano G, Santachiara G,Benerecetti AS (1992) MtDNA polymorphisms among Tharus of eastern Terai (Nepal). Gene Geogr 6:139–47
Passarino G, Semino O, Quintana-Murci L, Excoffier L, Hammer M, Santachiara-Benerecetti AS (1998) Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms. Am J Hum Genet 62:420–34.
Richards MB, Macaulay VA, Bandelt HJ, Sykes BC (1998) Phylogeography of mitochondrial DNA in western Europe. Ann Hum Genet 62:241–60.
Schurr TG, Ballinger SW, Gan YY, Hodge JA, Merriwether DA, Lawrence DN, Knowler WCet al. (1990) Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary matemal lineages. Am J Hum Genet 46:613 23.
Stringer CB (1990) The emergence of modern humans. Sci Am 263:98–104.
Stringer CB (1992) Reconstructing recent human evolution. Philos Trans R Soc Lond B Biol Sci 337:217–24.
Stringer CB, Grun R, Schwartz HP, Goldberg P (1989) ESR dates for the hominid burial site of Es Skhul in Israel. Nature 338:756–8.
Sykes B, Leiboff A, Low-Beer J, Tetzner S, Richards M (1995) The origins of the Polynesians: an interpretation from mitochondrial lineage analysis. Am J Hum Genet 57:1463–75.
Torroni A, Bandelt HJ, D’Urbano L, Lahermo P, Moral P, Sellitto D, Rengo Cet al. (1998) mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet 62:1137–52.
Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu Det al. (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics 144:1835–50.
Torroni A, Miller JA, Moore LG, Zamudio S, Zhuang J, Droma T, Wallace DC (1994) Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol 93:189–99.
Torroni A, Neel JV, Barrantes R, Schurr TG, Wallace DC (1994) Mitochondrial DNA “clock” for the Amerinds and its implications for timing their entry into North America. Proc Natl Acad Sci U S A 91:1158–62.
Torroni A, Petrozzi M, D’Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci Cet al. (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60:1107–21.
Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DGet al. (1993) Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet 53:563–90.
Torroni A, Schurr TG, Yang CC, Szathmary EJ, Williams RC, Schanfield MS, Troup GAet al. (1992) Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations. Genetics 130:153–62.
Torroni A, Sukernik RI, Schurr TG, Starikorskaya YB, Cabell MF, Crawford MH, Comuzzie AGet al. (1993) mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet 53:591–608.
Wallace D 1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am J Hum Genet 57:201–23.
Watson E, Forster P, Richards M, Bandelt HJ (1997) Mitochondrial footprints of human expansions in Africa. Am J Hum Genct 61:691–704.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1999 Springer Science+Business Media New York
About this chapter
Cite this chapter
Kivisild, T., Kaldma, K., Metspalu, M., Parik, J., Papiha, S., Villems, R. (1999). The Place of the Indian Mitochondrial DNA Variants in the Global Network of Maternal Lineages and the Peopling of the Old World. In: Papiha, S.S., Deka, R., Chakraborty, R. (eds) Genomic Diversity. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4263-6_11
Download citation
DOI: https://doi.org/10.1007/978-1-4615-4263-6_11
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-6914-1
Online ISBN: 978-1-4615-4263-6
eBook Packages: Springer Book Archive