Origin and Diffusion of mtDNA Haplogroup X

American Journal of Human Genetics

Volumn 73, Issue 5, 2003, Pages 1178-1190

  Reidla, Maere ^a,t   Kivisild, Toomas ^a   Metspalu, Ene ^a   Kaldma, Katrin ^a   Tambets, Kristiina ^a   Tolk, Helle Viivi ^a   Parik, Jüri ^a   Loogväli, Eva Liis ^a   Derenko, Miroslava ^b   Malyarchuk, Boris ^b   Bermisheva, Marina ^a,c   Zhadanov, Sergey ^a,d   Pennarun, Erwan ^a,e   Gubina, Marina ^a,d   Golubenko, Maria ^a,f   Damba, Larisa ^a,d   Fedorova, Sardana ^a,g   Gusar, Vladislava ^a,h   Grechanina, Elena ^h   Mikerezi, Ilia ⁱ   Moisan, Jean Paul ^e   Chaventré, André ^e   Khusnutdinova, Elsa ^c   Osipova, Ludmila ^d   Stepanov, Vadim ^f   Voevoda, Mikhail ^d   Achilli, Alessandro ^j   Rengo, Chiara ^j   Rickards, Olga ^k   De Stefano, Gian Franco ^k   Papiha, Surinder ^l   Beckman, Lars ^m   Janicijevic, Branka ⁿ   Rudan, Pavao ⁿ   Anagnou, Nicholas ^o   Michalodimitrakis, Emmanuel ^o   Koziel, Slawomir ^p   Usanga, Esien ^q   Geberhiwot, Tarekegn ^r   Herrnstadt, Corinna ^s   Howell, Neil ^s   Torroni, Antonio ^j   Villems, Richard ^a   more..

^a UNIVERSITY OF TARTU   (Estonia)

^b INSTITUTE OF BIOLOGICAL PROBLEMS OF THE NORTH   (Russian Federation)

^c INSTITUTE OF BIOCHEMISTRY AND GENETICS   (Russian Federation)

^d INSTITUTE OF CYTOLOGY AND GENETICS   (Russian Federation)

^e UNIVERSITÉ DE NANTES   (France)

^f RESEARCH INSTITUTE OF MEDICAL GENETICS   (Russian Federation)

^g Russian Academy of Sciences   (Russian Federation)

^h Kharkov   (Ukraine)

ⁱ UNIVERSITY OF TIRANA   (Albania)

^j UNIVERSITY OF PAVIA   (Italy)

^k UNIVERSITY OF ROME TOR VERGATA   (Italy)

^l NEWCASTLE UNIVERSITY   (United Kingdom)

^m GOTLAND UNIVERSITY   (Sweden)

ⁿ INSTITUTE FOR ANTHROPOLOGICAL RESEARCH   (Croatia)

^o UNIVERSITY OF CRETE   (Greece)

^p INSTITUTE OF ANTHROPOLOGY   (Poland)

^q UNIVERSITY OF CALABAR   (Nigeria)

^r University Hospitals Birmingham   (United Kingdom)

^s Migenix Inc   (United States)

^t UNIVERSITY OF TARTU   (Estonia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

AFRICA; ARTICLE; ASIA; BIOGENESIS; EVOLUTION; GENETIC POLYMORPHISM; HAPLOTYPE; HEALTH SURVEY; HUMAN; PARSIMONY ANALYSIS; POPULATION GENETICS; PRIORITY JOURNAL; RUSSIAN FEDERATION; X CHROMOSOME LINKAGE;

EID: 0242438840     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/379380     Document Type: Article

References (62)

1. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457-465
2. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147
3. Ballinger SW, Schurr TG, Torroni A, Gan YY, Hodge JA, Hassan K, Chen KH, Wallace DC (1992) Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics 130:139-152
4. Bandelt H-J, Forster P, Röhl A (1999) Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 16:37-48
5. Bandelt H-J, Herrnstadt C, Yao Y-G, Kong Q-P, Kivisild T, Rengo C, Scozzari R, Richards M, Villems R, Macaulay V, Howell N, Torroni A, Zhang Y-P. Identification of Native American founder mtDNAs through the analysis of complete mtDNA sequences: some caveats. Ann Hum Genet (in press)
6. Bermisheva M, Tambets K, Villems R, Khusnutdinova E (2002) Diversity of mitochondrial DNA haplotypes in ethnic populations of the Volga-Ural region of Russia. Mol Biol (Mosk) 36:990-1001
7. Bertranpetit J, Sala J, Calafell F, Underhill PA, Moral P, Comas D (1995) Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet 59:63-81
8. Brown MD, Hosseini SH, Torroni A, Bandelt H-J, Allen JC, Schurr TG, Scozzari R, Cruciani F, Wallace DC (1998) mtDNA haplogroup X: an ancient link between Europe/Western Asia and North America? Am J Hum Genet 63: 1852-1861
9. Cavalli-Sforza LL, Feldman MW (2003) The application of molecular genetic approaches to the study of human evolution. Nat Genet 33:266-275
10. 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 57:133-149
11. Corte-Real HB, Macaulay VA, Richards MB, Hariti G, Issad MS, Cambon-Thomsen A, Papiha S, Bertranpetit J, Sykes BC (1996) Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis. Ann Hum Genet 60:331-350
12. Crespillo M, Luque JA, Paredes M, Fernandez R, Ramirez E, Valverde JL (2000) Mitochondrial DNA sequences for 118 individuals from northeastern Spain. Int J Legal Med 114: 130-132
13. Derbeneva OA, Starikovskaya EB, Wallace DC, Sukernik RI (2002) Traces of early Eurasians in the Mansi of northwest Siberia revealed by mitochondrial DNA analysis. Am J Hum Genet 70:1009-1014
14. Derenko MV, Grzybowski T, Malyarchuk BA, Czarny J, Miscicka-Sliwka D, Zakharov IA (2001) The presence of mitochondrial haplogroup X in Altaians from South Siberia. Am J Hum Genet 69:237-241
15. Di Rienzo A, Wilson AC (1991) Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci USA 88:1597-1601
16. Dimo-Simonin N, Grange F, Taroni F, Brandt-Casadevall C, Mangin P (2000) Forensic evaluation of mtDNA in a population from south west Switzerland. Int J Legal Med 113: 89-97
17. Finnilä S, Lehtonen MS, Majamaa K (2001) Phylogenetic network for European mtDNA. Am J Hum Genet 68:1475-1484
18. Forster P, Harding R, Torroni A, Bandelt H-J (1996) Origin and evolution of Native American mtDNA variation: a reappraisal. Am J Hum Genet 59:935-945
19. Hasegawa M, Di Rienzo A, Kocher TD, Wilson AC (1993) Toward a more accurate time scale for the human mitochondrial DNA tree. J Mol Evol 37:347-354
20. Helgason A, Hickey E, Goodacre S, Bosnes V, Stefansson K, Ward R, Sykes B (2001) mtDNA and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry. Am J Hum Genet 68:723-737
21. Helgason A, Sigurdadottir S, Gulcher J, Ward R, Stefanson K (2000) mtDNA and the origins of the Icelanders: deciphering signals of recent population history. Am J Hum Genet 66: 999-1016
22. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 70:1152-1171
23. Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, Gerbitz KD (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 6: 1835-1846
24. Ingman M, Kaessmann H, Pääbo S, Gyllensten U (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408:708-713
25. Kivisild T, Bamshad MJ, Kaldma K, Metspalu M, Metspalu E, Reidla M, Laos S, Parik J, Watkins WS, Dixon ME, Papiha SS, Mastana SS, Mir MR, Ferak V, Villems R (1999) Deep common ancestry of Indian and western-Eurasian mitochondrial DNA lineages. Curr Biol 9:1331-1334
26. Kivisild T, Rootsi S, Metspalu M, Mastana S, Kaldma K, Parik J, Metspalu E, Adojaan M, Tolk H-V, Stepanov V, Gölge M, Usanga E, Papiha SS, Cinnioglu C, King R, Cavalli-Sforza L, Underhill PA, Villems R (2003) The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations. Am J Hum Genet 72:313-332
27. Kivisild T, Tolk H-V, Parik J, Wang Y, Papiha SS, Bandelt H-J, Villems R (2002) The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19:1737-1751
28. Levin BC, Cheng H, Reeder DJ (1999) A human mitochondrial DNA standard reference material for quality control in forensic identification, medical diagnosis, and mutation detection. Genomics 55:135-146
29. 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
30. Maca-Meyer N, Gonzalez AM, Larruga JM, Flores C, Cabrera VM (2001) Major genomic mitochondrial lineages delineate early human expansions. BMC Genet 2:13
31. Macaulay VA, Richards MB, Hickey E, Vega E, Cruciani F, Guida V, Scozzari R, Bonné-Tamir B, Sykes B, Torroni A (1999) The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am J Hum Genet 64:232-249
32. Malhi RS, Schultz BA, Smith DG (2001) Distribution of mitochondrial DNA lineages among Native American tribes of Northeastern North America. Hum Biol 73:17-55
33. Malhi RS, Smith DG (2002) Brief communication: Haplogroup X confirmed in prehistoric North America. Am J Phys Anthropol 119:84-86
34. Malyarchuk BA, Grzybowski T, Derenko MV, Czarny J, Wozniak M, Miscicka-Sliwka D (2002) Mitochondrial DNA variability in Poles and Russians. Ann Hum Genet 66:261-283
35. Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC (2003) Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci USA 100:171-176
36. Mogentale-Profizi N, Chollet L, Stevanovitch A, Dubut V, Poggi C, Pradie MP, Spadoni JL, Gilles A, Beraud-Colomb E (2001) Mitochondrial DNA sequence diversity in two groups of Italian Veneto speakers from Veneto. Ann Hum Genet 65:153-166
37. Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York, pp 145-163
38. Opdal SH, Rognum TO, Vege A, Stave AK, Dupuy BM, Egeland T (1998) Increased number of substitutions in the D-loop of mitochondrial DNA in the sudden infant death syndrome. Acta Paediatr 87:1039-1044
39. Orekhov V, Poltoraus A, Zhivotovsky LA, Spitsyn V, Ivanov P, Yankovsky N (1999) Mitochondrial DNA sequence diversity in Russians. FEBS Letters 445:197-201
40. Parson W, Parsons TJ, Scheithauer R, Holland MM (1998) Population data for 101 Austrian Caucasian mitochondrial DNA d-loop sequences: application of mtDNA sequence analysis to a forensic case. Int J Legal Med 111:124-132
41. Pereira L, Macaulay V, Torroni A, Scozzari R, Prata MJ, Amorim A (2001) Prehistoric and historic traces in the mtDNA of Mozambique: insights into the Bantu expansions and the slave trade. Ann Hum Genet 65:439-458
42. Pereira L, Prata MJ, Amorim A (2000) Diversity of mtDNA lineages in Portugal: not a genetic edge of European variation. Ann Hum Genet 64:491-506
43. Pfeiffer H, Brinkmann B, Huhne J, Rolf B, Morris AA, Steighner R, Holland MM, Forster P (1999) Expanding the forensic German mitochondrial DNA control region database: genetic diversity as a function of sample size and microgeography. Int J Legal Med 112:291-298
44. Piercy R, Sullivan KM, Benson N, Gill P (1993) The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int J Legal Med 106:85-90
45. Rando JC, Pinto F, Gonzalez AM, Hernandez M, Larruga JM, Cabrera VM, Bandelt HJ (1998) Mitochondrial DNA analysis of northwest African populations reveals genetic exchanges with European, near-eastern, and sub-Saharan populations. Ann Hum Genet 62:531-550
46. Renfrew C (2000) Archaeogenetics: towards a population prehistory of Europe. In: Renfrew C, Boyle K (eds) Archaeogenetics: DNA and the population prehistory of Europe. McDonald Institute for Archaeological Research, Cambridge, pp 3-11
47. Richards M, Corte-Real H, Forster P, Macaulay V, Wilkinson-Herbots H, Demaine A, Papiha S, Hedges R, Bandelt H-J, Sykes B (1996) Paleolithic and neolithic lineages in the European mitochondrial gene pool. Am J Hum Genet 59:185-203
48. Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V, Rengo C, et al (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67: 1251-1276
49. Rousselet F, Mangin P (1998) Mitochondrial DNA polymorphisms: a study of 50 French Caucasian individuals and application to forensic casework. Int J Legal Med 111:292-298
50. Saillard J, Forster P, Lynnerup N, Bandelt H-J, Nørby S (2000) mtDNA variation among Greenland Eskimos: the edge of the Beringian expansion. Am J Hum Genet 67:718-726
51. Salas A, Richards M, De la Fe T, Lareu MV, Sobrino B, Sanchez-Diz P, Macaulay V, Carracedo A (2002) The making of the African mtDNA landscape. Am J Hum Genet 71: 1082-1111
52. Schurr TG, Sukernik RI, Starikovskaya YB, Wallace DC (1999) Mitochondrial DNA variation in Koryaks and Itel'men: population replacement in the Okhotsk Sea-Bering Sea region during the Neolithic. Am J Phys Anthropol 108:1-39
53. Scozzari R, Cruciani F, Santolamazza P, Sellitto D, Cole DEC, Rubin LA, Labuda D, Marini E, Succa V, Vona G, Torroni A (1997) mtDNA and Y chromosome-specific polymorphisms in modern Ojibwa: implications about the origin of their gene pool. Am J Hum Genet 60: 241-244
54. Smith DG, Malhi RS, Eshleman J, Lorenz JG, Kaestle FA (1999) Distribution of mtDNA haplogroup X among Native North Americans. Am J Phys Anthropol 110:271-284
55. Starikovskaya YB, Sukernik RI, Schurr TG, Kogelnik AM, Wallace DC (1998) 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 63:1473-1491
56. Stone AC, Stoneking M (1999) Analysis of ancient DNA from a prehistoric Amerindian cemetery. Philos Trans R Soc Lond B Biol Sci 354:153-159
57. Tagliabracci A, Turchi C, Buscemi L, Sassaroli C (2001) Polymorphism of the mitochondrial DNA control region in Italians. Int J Legal Med 114:224-228
58. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics 144:1835-1850
59. 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 93:189-199
60. Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DG, Vullo CM, Wallace DC (1993) Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet 53:563-590
61. Ward RH, Frazier B, Dew-Jager K, Paabo S (1991) Extensive mitochondrial diversity within a single Amerindian tribe. Proc Natl Acad Sci USA 88:8720-8274
62. Watson E, Forster P, Richards M, Bandelt HJ (1997) Mitochondrial footprints of human expansions in Africa. Am J Hum Genet 61:691-704