The 9-bp deletion between the mitochondrial lysine tRNA and COII genes in tribal populations of India

Human Biology

Volumn 72, Issue 2, 2000, Pages 273-285

  Clark, Vanessa J ^a   Sivendren, Shanthi ^a   Saha, Nilmani ^b   Bentley, Gillian R ^f   Aunger, Robert ^c   Sirajuddin, S M ^d   Stoneking, Mark ^a,e  

^a PENNSYLVANIA STATE UNIVERSITY   (United States)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c KING'S COLLEGE   (United Kingdom)

^d Anthropological Survey of India   (India)

^e MAX PLANCK INSTITUTE FOR EVOLUTIONARY ANTHROPOLOGY   (Germany)

^f NONE

Author keywords

9 bp; Deletion; HV1; India; mtDNA

Indexed keywords

AFRICA; ASIA; BASE PAIRING; GENE CLUSTER; GENE COII; GENE DELETION; GENETIC MARKER; HUMAN GENE; HUMAN GENOME; INDIA; INDONESIA; LYSINE; MITOCHONDRIAL DNA; PHYLOGENY; TRANSFER RNA;

EID: 0034007989     PISSN: 00187143     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (60)

1. Anderson, S., A.T. Bankier, B.G. Barrell et al. 1981. Sequence and organization of the human mitochondrial genome. Nature 290:457-465.
2. Ballinger, S., T. Schurr, A. Torroni et al. 1992. Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics 130:139-152.
3. Bamshad, M., A.E. Fraley, M.H. Crawford et al. 1996. MtDNA variation in caste populations of Andhra Pradesh, India. Hum. Biol. 68:1-28.
4. Buchanan, A.V., S.T. Sherry, K.M. Weiss et al. 1993. Extraction of DNA from frozen red blood cells. Hum. Biol. 65:647-654.
5. Cann, R.L., M. Stoneking, and A.C. Wilson. 1987. Mitochondrial DNA and human evolution. Nature 325:31-36.
6. Cavalli-Sforza, L.L., A. Piazza, and P. Menozzi. 1994. History and Geography of Human Genes. Princeton, NJ: Princeton University Press.
7. Chakraborty, R., H. Walter, B.N. Mukherjee et al. 1986. Gene differentiation among ten endogamous groups of West Bengal, India. Am. J. Physical Anthropol. 71:295-309.
8. Chandler, W.B. 1988. The jewel in the lotus: The Ethiopian presence in the Indus valley civilization. In African Presence in Early Asia, I, V. Sertma and R. Rashidi, eds. New Brunswick, NJ: Transaction, 80-105.
9. Chen, Y.-S., A. Torroni, L. Excoffier et al. 1995. Analysis of mtDNA variation in African populations reveals the most ancient of all human continental-specific haplogroups. Am. J. Hum. Genet. 57:133-149.
10. Das, K., K.C. Malhotra, B.N. Mukherjee et al. 1996. Population structure and genetic differentiation among 16 tribal populations of central India. Hum. Biol. 68:679-705.
11. Fairservis, W.A. 1971. The Root of Ancient India. New York: Macmillan.
12. Felsenstein, J. 1985. Confidence limits on phylogenies: an approach using the bootstrap. Evolution 39:783-791.
13. Hagelberg, E., and J.B. Clegg. 1993. Genetic polymorphisms in prehistoric Pacific islanders determined by analysis of ancient bone DNA. Proceedings of the Royal Society of London B 252:163-170.
14. Hagelberg, E., S. Quevedo, D. Turbon et al. 1994. DNA from ancient Easter Islanders. Nature 369:25-26.
15. Harihara, S., H. Momoki, Y. Suutou et al. 1992. Frequency of a 9bp deletion in the mitochondrial DNA of Asian populations. Hum. Biol. 64:161-166.
16. Hertzberg, M., K.N.P. Mickelson, S.W. Serjeantson et al. 1989. An Asian-specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians. Am. J. Hum. Genet. 44:504-510.
17. Higuchi, R., C.H. von Beroldingen, G.F. Sensabaugh et al. 1988. DNA typing from single hairs. Nature 332:543-546.
18. Horai, S., T. Gojobori, and E. Matsunaga. 1987. Evolutionary implications of mitochondrial DNA polymorphisms in human populations. In Human Genetics: Proceedings of the 7th International Congress, F. Vogel and K. Sperling, eds. Heidelberg: Springer-Verlag, 177-181.
19. Horai, S., M.K. Hayasaka, S. Matsubayashi et al. 1996. MtDNA polymorphism in East Asian populations, with special reference to the peopling of Japan. Am. J. Hum. Genet. 59:579-590.
20. Horai, S., R. Kondo, Y. Nakagawa-Hattori et al. 1993. Peopling of the Americas, founded by four major lineages of mitochondrial DNA. Mol. Biol. Evol. 10:23-47.
21. Krings, M., A. Stone, R.W. Schmitz et al. 1997. Neandertal DNA sequences and the origin of modern humans. Cell 90:19-30.
22. Lahr, M.M., and R. Foley. 1994. Multiple dispersals and modern human origins. Evolutionary Anthropol. 3:48-60
23. Lanchbury, J.S., S.S. Agarwal, and S.S. Papiha. 1996. Genetic differentiation and population structure of some occupational caste groups in Uttar Pradesh, India. Hum. Biol. 68:655-678.
24. Lum, J.K., O. Rickards, C. Ching, and R.L. Cann. 1994. Polynesian mitochondrial DNAs reveal three deep maternal lineage clusters. Hum. Biol. 66:567-590.
25. Majumder, P.P. 1998. People of India: biological diversity and affinities. Evolutionary Anthropol. 6:100-113.
26. Maloney, C. 1974. The Races in Peoples of South Asia. New York: Rinehart and Winston.
27. Melton, T., R. Peterson, A.J. Redd et al. 1995. Polynesian genetic affinities with Southeast Asian populations as identified by mtDNA analysis. Am. J. Hum. Genet. 57:403-414.
28. Mountain, J.L., J.M. Hebert, S. Bhatacharyya et al. 1995. Demographic history of India and mtDNA-sequence diversity. Am. J. Hum. Genet. 56:979-992.
29. Nei, M., and A. Roychoudhury. 1993. Evolutionary relationships of human populations on a global scale. Mol. Biol. Evolution 10:927-943.
30. Papiha, S.S. 1996. Genetic variation in India. Hum. Biol. 68:607-628.
31. Passarino, G., O. Semino, G. Modiano et al. 1993. COII/tRNA-Lys intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (Southern Nepal) have Oriental affinities. Am. J. Hum. Genet. 53:609-618.
32. Passarino, G., O. Semino, G. Modiano et al. 1996. MtDNA provides the first known marker distinguishing proto-Indians from other Caucasoids; it probably predates the diversification between Indians and Orientals. Ann. Hum. Biol. 23:121-126.
33. Lys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific. Mol. Biol. Evolution 12:604-615.
34. Roychoudhury, A.K. 1982. Genetic relationships of Indian populations. In Human Genetics and Adaptation, K.C. Malhotra and A. Basu, eds. Vol. 1. New York: Plenum Press, 147-174.
35. Saha, N., R.L. Kirk, and S. Shanbag. 1974. Genetic studies among the Kadar of Kerala. Hum. Heredity 24:198-218.
36. Saha, N. 1990. Distribution of hemoglobin E in several Mongoloid populations of Northeast India. Hum. Biol. 62:535-544.
37. Saitou, N., and M. Nei. 1987. The neighbor-joining method: a new method for constructing phylogenetic trees. Mol. Biol. Evolution 4:406-425.
38. Schurr, T.G., S.W. Ballinger, Y.-Y. Gan 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.
39. Shields, G.F., K. Heckler, M.I. Voevoda et al. 1992. Absence of the Asian-specific region V mitochondrial marker in native Beringians. Am. J. Hum. Genet. 50:758-765.
40. Shields, G.F., A.M. Schmiechen, B.L. Frazier et al. 1993. MtDNA sequences suggest a recent evolutionary divergence for Beringian and Northern North American populations. Am. J. Hum. Genet. 53:549-562.
41. Singh, K.S., V. Bhalla, and V. Kaul. 1994. People of India: Biological Variation in Indian Populations. Delhi: Oxford University Press.
42. Sirajuddin, S.M., R. Duggirala, and M.H. Crawford. 1994. Population structure of the Chenchu and other South Indian tribal groups: relationships between genetic, anthropometric, dermatoglyphic, geographic and linguistic distances. Hum. Biol. 66:865-884.
43. Soodyall, H., T. Jenkins, and M. Stoneking. 1995. 'Polynesian' mtDNA in the Malagasy. Nature Genet. 10:377-378.
44. Soodyall, H., L. Vigilant, A.V.S. Hill et al. 1996. MtDNA control-region sequence variation suggests multiple independent origins of the "Asian-specific" 9-bp deletion in Sub-Saharan Africans. Am. J. Hum. Genet. 58:595-608.
45. Stoneking, M., and A.C. Wilson. 1989. Mitochondrial DNA. In The Colonization of the Pacific: A Genetic Trail. A.V.S. Hill and S.W. Serjeantson, eds. Oxford, England: Oxford University Press, 215-245.
46. Stringer, C.B., and P. Andrews. 1988. Genetic and fossil evidence for the origin of modern humans. Science 239:1263-1268
47. Swofford, D.L. 1998. PAUP*: Phylogenetic Analysis Using Parsimony (* and Other Methods). Version 4. Sunderland, MA: Sinauer Associates.
48. Sykes, B., A. Leiboff, J. Low-Beer et al. 1995. The origins of the Polynesians: an interpretation from mitochondrial lineage analysis. Am. J. Hum. Genet. 57:1463-1475.
49. Tamura, K., and M. Nei. 1993. Estimation of the number of nucleotide substitutions in the control region of mitochondrial DNA in humans and chimpanzees. Mol. Biol. Evolution. 10:512-526.
50. Thapar, R. 1980. India before and after the Mauryan Empire. In The Cambridge Encyclopedia of Archaeology, A. Sherratt, ed. New York: Crown, 257-260.
51. Torroni, A., Y.-S. Chen, O. Semino et al. 1994. MtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico. Am. J. Hum. Genet. 54:303-318.
52. Torroni, A., M. Petrozzi, P. Santolamazza et al. 1995. About the "Asian-specific" 9-bp deletion of mtDNA. Am. J. Hum. Genet. 57:507-508.
53. Torroni, A., T.G. Schurr, C.-C. Yang et al. 1992. Native American mitochondrial DNA analysis indicates that the Amerind and the NaDene populations were founded by two independent migrations. Genetics 130:153-162.
54. Vigilant, L., R. Pennington, H. Harpending et al. 1989. Mitochondrial DNA sequences in single hairs from southern African populations. Proceedings of the National Academy of Sciences, USA 86:9350-9354.
55. Vigilant, L. 1990. Control region sequences from African populations and the evolution of human mitochondrial DNA. Ph. D. diss., University of California, Berkeley.
56. Vigilant, L., M. Stoneking, H. Harpending et al. 1991. African populations and the evolution of human mitochondrial DNA. Science 253:1503-1507.
57. Ward, R.H., B.L. Frazier, K. Dew-Jager et al. 1991. Extensive mitochondrial diversity within a single Amerindian tribe. Proceedings of the National Academy of Sciences, USA 88:8720-8724.
58. Ward, R.H., A. Redd, D. Valencia et al. 1993. Genetic and linguistic differentiation in the Americas. Proceedings of the National Academy of Sciences, USA 90:10663-10667.
59. Watkins, W.S., M. Bamshad, M.E. Dixon et al. 1999. Multiple origins of the mtDNA 9-bp deletion in populations of South India. Amer. J. Phys. Anthropol. 109:147-158.
60. Wrischnik, L.A., R.G. Higuchi, M. Stoneking et al. 1987. Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. Nucleic Acids Research 15:529-542.