Polymorphism of human mitochondrial DNA

Russian Journal of Genetics

Volumn 39, Issue 8, 2003, Pages 849-859

  Bermisheva, M A ^a   Viktorova, T V ^a   Khusnutdinova, E K ^a  

^a INSTITUTE OF BIOCHEMISTRY AND GENETICS   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

AFRICA; AMERICAN INDIAN; ASIA; AUSTRALIA; DNA DETERMINATION; DNA POLYMORPHISM; DNA SEQUENCE; EUROPE; GENE MUTATION; GENE POOL; GENETIC VARIABILITY; HUMAN; INDIA; MIGRATION; MOLECULAR EVOLUTION; MOLECULAR GENETICS; NOMENCLATURE; POPULATION GENETICS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVIEW; RUSSIAN FEDERATION;

EID: 9644259072     PISSN: 10227954     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1025319702808     Document Type: Review

References (97)

1. Giles, R.E., Blanc, H., Cann, H.M., and Wallace, D.C., Maternal Inheritance of Human Mitochondrial DNA, Proc. Natl. Acad. Sci. USA, 1980, vol. 77, pp. 6715-6719.
2. Michaels, S., Hauswirth., W., and Laipis, P., Mitochondrial DNA Copy Number in Bovine Oocytes and Somatic Cells, Dev. Biol., 1982, vol. 94, pp. 246-251.
3. Kaneda, H., Hayashi, J., Takahama, S., et al., Elimination of Paternal Mitochondrial DNA in Intraspecific Crosses during Early Mouse Embryogenesis, Proc. Natl. Acad. Sci. USA, 1995, vol. 92, pp. 4542-4546.
4. Merriwether, D.A., Clark, A.G., Ballinger, S.W., et al., The Structure of Human Mitochondrial DNA Variation, J. Mol. Evol., 1991, vol. 33, pp. 543-555.
5. Lightowlers, R., Chinnery, P., and Turnbull, D., Mammalian Mitochondrial Genetics: Heredity, Heteroplasmy and Disease, Trends Genet., 1997, vol. 13, pp. 450-455.
6. Bendall, K. and Sykes, B., Length Heteroplasmy in the First Hypervariable Segment of the Human mtDNA Control Region, Am. J. Hum. Genet., 1995, vol. 57, pp. 248-256.
7. Howell, N., Kubacka, I., and Mackey, D., How Rapidly Does the Human Mitochondrial Genome Evolve?, Am. J. Hum. Genet., 1996, vol. 59, pp. 501-509.
8. Wallace, D.C., Brown, M.D., and Lott, M.T., Mitochondrial DNA Variation in Human Evolution and Disease, Gene, 1999, vol. 238, pp. 211-230.
9. Hauswirth, W. and Laipis, P., Mitochondrial DNA Polymorphism in a Maternal Lineage of Holstein Cows, Proc. Natl. Acad. Sci. USA, 1982, vol. 79, pp. 4686-4690.
10. Koehler, C., Lindberg, G., Brown, D., et al., Replacement of Bovine Mitochondrial DNA by a Sequence Variant within One Generation, Genetics, 1991, vol. 129, pp. 247-255.
11. Gill, P., Ivanov, P., Kimpton, C., et al., Identification of the Remains of the Romanov Family by DNA Analysis, Nat. Genet., 1994, vol. 6, pp. 130-135.
12. Excoffier, L., Evolution of Human Mitochondrial DNA: Evidence for Departure from a Pure Neutral Model of Populations at Equilibrium, J. Mol. Evol., 1990, vol. 30, pp. 125-139.
13. Nachman, M.N., Deleterious Mutations in Animal Mitochondrial DNA, Genetics, 1998, vol. 103, pp. 61-69.
14. Nielsen, R. and Weinreich, D., The Age of Nonsynonymous and Synonymous Mutations in Animal mtDNA and Implications for the Mildly Deleterious Theory, Genetics, 1999, vol. 153, pp. 497-506.
15. Torroni, A., Miller, J., Moore, L., et al., Mitochondrial DNA Analysis in Tibet: Implications for the Origin of the Tibetan Populations and Its Adaptation to High Altitude, Am. J. Phys. Anthropol., 1994, vol. 93, pp. 189-199.
16. Aquadro, C.F. and Greenberg, B.D., Human Mitochondrial DNA Variation and Evolution: Analysis of Nucleotide Sequences from Seven Individuals, Genetics, 1983, vol. 103, pp. 287-312.
17. Anderson, S., Bankier, A.T., Barrell, B.G., et al., Sequence and Organization of the Human Mitochondrial Genome, Nature, 1981, vol. 290, pp. 457-465.
18. Horai, S. and Hayasaka, K., Intraspecific Nucleotide Sequence Differences in the Major Noncoding Region of Human Mitochondrial DNA, Am. J. Hum. Genet., 1990, vol. 46, pp. 828-842.
19. Brown, W., George, M., and Wilson, A., Rapid Evolution of Animal Mitochondrial DNA, Proc. Natl. Acad. Sci. USA, 1979, vol. 76, pp. 1967-1971.
20. Cann, R.L., Stoneking, M., and Wilson, A.C., Mitochondrial DNA and Human Evolution, Nature, 1987, vol. 325, pp. 31-36.
21. Denaro, M., Blanc, H., Johnson, M., et al., Ethnic Variation in HpaI Endonuclease Cleavage Patterns of Human Mitochondrial DNA, Proc. Natl. Acad. Sci. USA, 1981, vol. 78, pp. 5768-5772.
22. Harihara, S., Horai, M., and Omoto, K., Mitochondrial DNA Polymorphism in Japanese Living in Hokkaido, Jpn. J. Hum. Genet., 1986, vol. 31, pp. 73-83.
23. Horai, S. and Matsunaga, E., Mitochondrial DNA Polymorphism in Japanese: II. Analysis with Restriction Enzymes of Four or Five Base Pair Recognition, Hum. Genet., 1986, vol. 72, pp. 105-117.
24. Torroni, A., Lott, M.T., Cabell, M.F., et al., mtDNA and the Origin of Caucasians: Identification of Ancient Caucasian-Specific Haplogroups, One of Which Is Prone to a Recurrent Somatic Duplication in the D-Loop Region, Am. J. Hum. Genet., 1994, vol. 55, pp. 760-776.
25. Malyarchuk, B.A., Derenko, M.V., and Solovenchuk, L.L., Types of the mtDNA Control Region in Eastern Slavs, Genetika (Moscow), 1995, vol. 31, no. 6, pp. 846-851.
26. Torroni, A., Sukernik, R.I., Schurr, T.G., et al., mtDNA Variation of Aboriginal Siberians Reveals Distinct Genetic Affinities with Native Americans, Am. J. Hum. Genet., 1993, vol. 53, pp. 591-608.
27. Sambuugiin, N., Petrishchev, V.N., and Rychkov, Yu.G., DNA Polymorphism in the Mongolian Population: RFLP Analysis of Mitochondrial DNA, Genetika (Moscow), 1991, vol. 27, no. 12, pp. 2143-2151.
28. Petrishchev, V.N., Kutueva, A.B., and Rychkov, Yu.A., Insertion-Deletion Polymorphism of the mtDNA V-Region in Ten Mongoloid Populations of Siberia: Deletion Frequency Correlates with Geographic Coordinates of Their Regions, Genetika (Moscow), 1993, vol. 29, no. 7, pp. 1196-1204.
29. Torroni, A., Petrozzi, M., Santolamazza, P., et al., About the Asian-Specific 9-bp Deletion of mtDNA, Am. J. Hum. Genet., 1995, vol. 57, pp. 507-508.
30. Cann, R.L. and Wilson, A.C., Length Mutations in Human Mitochondrial DNA, Genetics, 1983, vol. 104, pp. 699-711.
31. Macaulay, V., Richards, M., Hickey, E., et al., The Emerging Tree of West Eurasian mtDNA: A Synthesis of Control-Region Sequences and RFLPs, Am. J. Hum. Genet., 1999, vol. 58, pp. 1309-1322.
32. Richards, M., Macaulay, V., and Bandelt, H.J., Phylogeography of Mitochondrial DNA in Western Europe, Ann. Hum. Genet., 1998, vol. 62, pp. 241-260.
33. Cavalli-Sforza, L.L., Menozzi, P., and Piazza, A., The History and Geography of Human Genes, Princeton: Univ. of Ontario Press, Princeton, 1994, p. 274.
34. Cavalli-Sforza, L.L., Genes, Peoples, and Languages, Proc. Natl. Acad. Sci. USA, 1997, vol. 94, pp. 7719-7724.
35. Cann, R.L., Stoneking, M., and Wilson, A.C., Mitochondrial DNA and Human Evolution, Nature, 1987, vol. 325, pp. 31-36.
36. Ke, Y., Su, B., Song, X., et al., African Origin of Modern Humans in East Asia: A Tale of 12 000 Y Chromosomes, Science, 2001, vol. 292, pp. 1151-1153.
37. Chen, Y., Torroni, A., Excoffier, L., et al., Analysis of mtDNA Variation in African Populations Reveals the Most Ancient of All Human Continent-Specific Haplogroups, Am. J. Hum. Genet., 1995, vol. 57, pp. 133-149.
38. Watson, E., Forster, P., Richards, M., et al., Mitochondrial Footprints of Human Expansions in Africa, Am. J. Hum. Genet., 1997, vol. 61, pp. 691-704.
39. Passarino, G., Semino, O., Quintana-Murci, L., et al., Different Genetic Components in the Ethiopian Population, Identified by mtDNA and Y-Chromosome Polymorphisms, Am. J. Hum. Genet., 1998, vol. 62, pp. 420-434.
40. Quintana-Murci, L., Semino, O., Bandelt, H.-J., et al., Genetic Evidence of an Early Exit of Homo sapiens from Africa through Eastern Africa, Nat. Genet., 1998, vol. 23, pp. 437-441.
41. Corte-Real, H., Macaulay, V., Richards, M., et al., Genetic Diversity in the Iberian Peninsula Determined from Mitochondrial Sequence Analysis, Ann. Hum. Genet., 1996, vol. 60, pp. 331-350.
42. Ward, R.H., Frazier, B.L., Dew, K., and Paabo, S., Extensive Mitochondrial Diversity within a Single Amerindian Tribe, Proc. Natl. Acad. Sci. USA, 1991, vol. 88, pp. 8720-8724.
43. Horai, S., Kondo, R., Nakagawa-Hattori, Y., et al., Peopling of the Americas, Founded by Four Major Lineages of Mitochondrial DNA, Mol. Biol. Evol., 1993, vol. 10, pp. 23-47.
44. Bonatto, S. and Salzano, F., Diversity and Age of the Four Major mtDNA Haplogroups, and Their Implications for the Peopling of the New World, Am. J. Hum. Genet., 1997, vol. 61, pp. 1413-1423.
45. Forster, P., Harding, R., Torroni, A., et al., Origin and Evolution of Native American mtDNA Variation: A Reappraisal, Am. J. Hum. Genet., 1996, vol. 59, pp. 935-945.
46. Kolman, C., Sambuughin, N., and Bermingham, E., Mitochondrial DNA Analysis of Mongolian Populations and Implications for the Origin of New World Founders, Genetics, 1996, vol. 142, pp. 1321-1334.
47. Merriwether, D.A., Hall, W., et al., mtDNA Variation Indicates Mongolia May Have Been the Source for the Founding Population for the New World, Am. J. Hum. Genet., 1996, vol. 59, pp. 204-212.
48. Stone, A. and Stoneking, M., mtDNA Analysis of a Prehistoric Oneota Population: Implications for the Peopling of the New World, Am. J. Hum. Genet., 1998, pp. 1153-1169.
49. Sukernik, R.I., Schurr, T.G., Starikovskaya, E.B., and Wallace, D.C., Variation of mtDNA in the Indigenous Population of Siberia and Reconstruction of the Evolutionary History of Native Americans, Genetika (Moscow), 1996, vol. 32, no. 3, pp. 432-439.
50. Golubenko, M.V., Puzyrev, V.P., Salyukov, V.B., et al., Analysis of the Distribution of "Mongoloid" Mitochondrial DNA Haplogroups in the Indigenous Population of Tuva, Genetika (Moscow), 2001, vol. 37, no. 6, p. 831.
51. Schurr, T., Sukernik, R., Starikovskaya, Y., et al., Mitochondrial DNA Variation in Koryaks and Itel'men: Population Replacement in the Okhotsk Sea-Bering Sea Region during the Neolithic, Am. J. Phys. Anthropol., 1999, vol. 108, pp. 1-39.
52. Starikovskaya, Y., Sukernik, R., Schurr, T., et al., mtDNA Diversity in Chukchi and Siberian Eskimos: Implications for the Genetic History of Ancient Beringia and the Peopling of the New World, Am. J. Hum. Genet., 1998, vol. 63, pp. 1473-1491.
53. Derenko, M., Malyarchuk, B., Dambueva, I., et al., Mitochondrial DNA Variation in Two South Siberian Aboriginal Populations: Implications for the Genetic History of North Asia, Hum. Biol., 2000, vol. 72, no. 6, pp. 945-973.
54. Lum, K., Rickards, O., et al., Polynesian Mitochondrial DNAs Reveal Three Deep Maternal Lineage Clusters, Hum. Biol., 1994, vol. 66, no. 4, pp. 567-590.
55. Melton, T., Peterson, R., Redd, A., et al., Polynesian Genetic Affinities with Southeast Asian Populations as Identified by mtDNA Analysis, Am. J. Hum. Genet., 1995, vol. 57, pp. 403-414.
56. Pellekaan, S.M., Frommer, M., et al., Mitochondrial Control-Region Sequence Variation in Aboriginal Australians, Am. J. Hum. Genet., 1998, vol. 62, pp. 435-449.
57. Melton, T. and Stoneking, M., Extent of Heterogeneity in Mitochondrial DNA of Ethnic Asian Populations, J. Forens. Sci., 1996, vol. 41, no. 4, pp. 591-602.
58. Bertranpetit, J., Sala, J., Calafell, F., et al., Human Mitochondrial DNA Variation and the Origin of Basques, Ann. Hum. Genet., 1995, vol. 59, pp. 63-81.
59. Cavalli-Sforza, L.L., Piazza, A., Menozzi, P., and Mountain, J., Reconstruction of Human Evolution: Bringing Together Genetic, Archeological, and Linguistic Data, Proc. Natl. Acad. Sci. USA, 1988, vol. 85, pp. 6002-6006.
60. Torroni, A., Huoponen, K., Francalacci, P., et al., Classification of European mtDNAs from an Analysis of Three European Populations, Genetics, 1996, vol. 144, pp. 1835-1850.
61. Richards, M., Corte-Real, H., Forster, P., et al., Paleolithic and Neolithic Lineages in the European Mitochondrial Gene Pool, Am. J. Hum. Genet., 1996, vol. 59, pp. 185-203.
62. Chen, Y.S., Torroni, A., and Wallace, D.C., Mitochondrial DNA Variation in African Populations, Am. J. Hum. Genet., 1994, vol. 55, p. 148.
63. Vigilant, L., Pennington, R., Harpending, et al., Mitochondrial DNA Sequences in Single Hairs from a Southern African Population, Proc. Natl. Acad. Sci. USA, 1990, vol. 86, pp. 9350-9354.
64. Torroni, A., Bandelt, H.-J., D'Urbano, L., et al., mtDNA Analysis Reveals a Major Late Paleolithic Population Expansion from Southwestern to Northeastern Europe, Am. J. Hum. Genet., 1998, vol. 62, pp. 1137-1152.
65. Richards, M., Macaulay, V., Hickey, E., et al., Tracing European Founder Lineages in the Near Eastern mtDNA Pool, Am. J. Hum. Genet., 2000, vol. 67, pp. 1251-1276.
66. Di Rienzo, A. and Wilson, A.C., Branching Pattern in the Evolutionary Tree for Human Mitochondrial DNA, Proc. Natl. Acad. Sci. USA, 1991, vol. 88, no. 5, pp. 1597-1601.
67. Sajantila, A., Lahermo, P., Anttinen, T., et al., Genes and Languages in Europe: An Analysis of Mitochondrial Lineages, Genome Res., 1995, vol. 5, pp. 42-52.
68. Sajantila, A., Salem, A.-H., et al., Paternal and Maternal DNA Lineages Reveal a Bottleneck in the Founding of the Finnish Population, Pop. Biol., 1996, vol. 93, pp. 12035-12039.
69. Finilla, S., Lehtonen, M., and Majamaa, K., Phylogenetic Network for European mtDNA, Am. J. Hum. Genet., 2001, vol. 68, pp. 1475-1484.
70. Meinila, M., Finilla, S., and Majamaa, K., Evidence for mtDNA Admixture between the Finns and the Saami, Hum. Hered., 2001, vol. 52, pp. 160-170.
71. Finilla, S. and Majamaa, K., Phylogenetic Analysis of mtDNA Haplogroup TJ in a Finnish Population, J. Hum. Genet., 2001, vol. 46, pp. 64-69.
72. Metspalu, E., Kivisild, T., Kaldma, K., et al., The Trans-Caucasus and the Expansion of the Caucasoid-Specific Human Mitochondrial DNA, Genomic Diversity, Deka, R. and Papiha, S., Eds., Kluwer Academic, 1999, pp. 121-134.
73. Stenico, M., Nigro, L., et al., High Mitochondrial Sequence Diversity in Linguistic Isolates of the Alps, Am. J. Hum. Genet., 1996, vol. 59, pp. 1363-1375.
74. Lahermo, P., Sajantila, A., Sistonen, P., et al., The Genetic Relationship between the Finns and the Finnish Saami (Lapps): Analysis of Nuclear DNA and mtDNA, Am. J. Hum. Genet., 1996, vol. 58, pp. 1309-1322.
75. Izagirre, N. and de la Rua, C., An mtDNA Analysis in Ancient Basque Populations: Implications for Haplogroup V as a Marker for a Major Paleolithic Expansion from Southwestern Europe, Am. J. Hum. Genet., 1999, vol. 65, pp. 199-207.
76. Torroni, A., Bandelt, H.J., Macaulay, V., et al., A Signal, from Human mtDNA, of Postglacial Re-Colonization in Europe, Am. J. Hum. Genet., 2001, vol. 69, pp. 844-852.
77. Torroni, A., Schurr, T., Cabell, M., et al., Asian Affinities and Continental Radiation of the Four Founding Native American mtDNAs, Am. J. Hum. Genet., 1993, vol. 53, pp. 563-590.
78. Ballinger, S., Schurr, T., Torroni, A., et al., Southeast Asian mtDNA Analysis Reveals Genetic Continuity of Ancient Mongoloid Migrations, Genetics, 1992, vol. 130, pp. 139-152.
79. Passarino, G., Semino, O., et al., Pre-Caucasoid and Caucasoid Genetic Features of the Indian Population, Revealed by mtDNA Polymorphisms, Am. J. Hum. Genet., 1996, vol. 59, pp. 927-934.
80. Kivisild, T., The Origins of Southern and Western Eurasian Populations: An mtDNA Study, PhD Dissertation, Tartu: Inst. Cell Mol. Biol., Tartu Univ., 2000.
81. Kivisild, T., Bamshad, M., Kaldma, K., et al., Deep Common Ancestry of Indian and Western-Eurasian mtDNA Lineages, Curr. Biol., 1999, no. 9, pp. 1331-1334.
82. Kivisild, T., Kaldma, K., Metspalu, M., et al., The Place of the Indian mtDNA Variants in the Global Network of Maternal Lineages and the Peopling of the Old World, Genomic Diversity, Deka, R. and Papiha, S., Eds., Kluwer Academic, 1999, pp. 135-152.
83. Kivisild, T., Papiha, S., Rootsi, S., et al., An Indian Ancestry: A Key for Understanding Human Diversity in Europe and Beyond, Archaeogenetics: DNA and the Population Prehistory of Europe, Renfrew, C. and Boyle, K., Eds., Cambridge: Univ. of Cambridge Press, 2000, pp. 267-279.
84. Bamshad, M., Kivisild, T., Watkins, W., et al., Genetic Evidence on the Origins of Indian Caste Populations, Genome Res., 2001.
85. Horai, S., Murayama, K., et al., mtDNA Polymorphism in East Asian Populations, with Special Reference to the Peopling of Japan, Am. J. Hum. Genet., 1996, vol. 59, pp. 579-590.
86. Comas, D., Calafell, F., Mateu, E., et al., Trading Genes along the Silk Road: mtDNA Sequences and the Origin of Central Asian Populations, Am. J. Hum. Genet., 1998, vol. 63, pp. 1824-1838.
87. Lemza, S.V. and Sokolova, O.V., Restriction Fragment Length Polymorphisms of Mitochondrial DNA in Indigenous Russian Population of Western Siberia, Genetika (Moscow), 1992, vol. 28, no. 5, pp. 136-140.
88. Petrishchev, V.N. and Kutueva, A.B., Mitochondrial DNA Polymorphism in Ethnic Russians of Russia, Genetika (Moscow), 1993, vol. 29, no. 8, pp. 1382-1390.
89. Malyarchuk, B.A., Derenko, M.V., and Solovenchuk, L.L., Types of the mtDNA Control Region in Eastern Slavs, Genetika (Moscow), 1995, vol. 31, no. 6, pp. 846-851.
90. Malyarchuk, B. and Derenko, M., Mitochondrial DNA Variability in Russians and Ukrainians: Implication to the Origin of the Eastern Slavs, Ann. Hum. Genet., 2001, vol. 65, pp. 63-78.
91. Malyarchuk, B., Differentiation of Slavs and Their Genetic Position among Eurasian Ethnic Groups, as Inferred from Mitochondrial DNA Variation, Genetika (Moscow), 2001, vol. 37, no. 12, pp. 1705-1712.
92. Orekhov, V. et al., Mitochondrial DNA Sequence Diversity in Russians, FEBS Lett., 1999, vol. 445, pp. 197-201.
93. Baranov, P.O., Babenko, V.N., et al., Specific Features of the Mitochondrial Gene Pool in Ethnic Germans of Russia, Genetika (Moscow), 1999, vol. 35, no. 2, pp. 249-254.
94. Bermisheva, M.A., Tambets, K., Villems, R., and Khusnutdinova, E.K., Diversity of Mitochondrial DNA Haplogroups in Ethnic Populations of the Volga-Ural Region, Mol. Biol. (Moscow), 2002, vol. 36, no. 6, pp. 990-1001.
95. Khusnutdinova, E., Victorova, T., Khidiatova, I., et al., Genetic Diversity of Volga-Ural People: Mitochondrial, Autosomal and Y-Chromosomal DNA Markers, Biodiversity and Dynamics of Ecosystems in North Eurasia, Novosibirsk, 2000, vol. 2, pp. 157-159.
96. Orekhov, V., Ivanov., P., Zhivotovsky, L., et al., mtDNA Sequence Diversity in Three Neighboring Ethnic Groups of Three Language Families from the European Part of Russia, Archaeogenetics: DNA and the Population Prehistory of Europe, Renfrew, C. and Boyle, K., Eds., Cambridge: Univ. of Cambridge Press, 1999, pp. 245-248.
97. Derenko, M., Denisova, G., Malyarchuk, B., et al., The Gene-Pool Structure in Ethnic Groups of the Altai-Sayan Highlands, as Inferred from Mitochondrial DNA Polymorphism, Genetika (Moscow), 2001, vol. 37, no. 10, pp. 1402-1410.