Is haplogroup X present in extant South American Indians?

American Journal of Physical Anthropology

Volumn 127, Issue 4, 2005, Pages 439-448

  Dornelles, Claudia L ^a,b   Bonatto, Sandra L ^b   De Freitas, Loreta B ^a   Salzano, Francisco M ^a  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b PONTIFICAL CATHOLIC UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

Author keywords

Amerindians; Haplogroup X; HVS I; mtDNA

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; DNA SEQUENCE; HAPLOTYPE; HUMAN; HUMAN GENOME; MITOCHONDRION; PHYLOGENY; POLYMERASE CHAIN REACTION; POPULATION GENETICS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SOUTH AMERICA;

DNA, MITOCHONDRIAL; GENETICS, POPULATION; HAPLOTYPES; HETEROZYGOTE; HUMANS; INDIANS, SOUTH AMERICAN; MUTATION; PHYLOGENY;

EID: 22544444926     PISSN: 00029483     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajpa.20103     Document Type: Article

References (48)

1. Anderson S, Bankier AT, Barrell BG, De Bruijn MHL, Coulson AE, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schrier PH, Smith AJH, Staden R, Young IC. 1981. Sequence and organization of the human mitochondrial genome. Nature 290:457-465.
2. Bailliet G, Rothhammer F, Carnese FR, Bravi CM, Bianchi NO. 1994. Founder mitochondrial haplotypes in Amerindian populations. Am J Hum Genet 54:27-33.
3. Bandelt H-J, Lahermo P, Richards M, Macaulay V. 2001. Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med 115:64-69.
4. Bandelt H-J, Quintana-Murci L, Salas A, Macaulay V. 2002. The fingerprint of phanton mutations in mitochondrial DNA data. Am J Hum Genet 71:1150-1160.
5. Bert F, Corella A, Gené M, Pérez-Pérez A, Turbon D. 2001. Major mitochondrial DNA haplotype heterogeneity in Highland and Lowland Amerindian populations from Bolivia. Hum Biol 73: 1-16.
6. Bolnick DA, Smith DG. 2003. Unexpected patterns of mitochondrial DNA variation among Native Americans from the southeastern United States. Am J Phys Anthropol 122:336-354.
7. Bonatto SL, Salzano FM. 1997a. A single and early migration for the peopling of the Americas supported by mitochondrial DNA sequence data. Proc Natl Acad Sci USA 94:1866-1871.
8. Bonatto SL, Salzano FM. 1997b. Diversity and age of the four major mtDNA haplogroups, and their implications for the peopling of the New World. Am J Hum Genet 61:1413-1423.
9. Bortolini MC, Zago MA, Salzano FM, Silva-Junior WA, Bonatto SL, Da Silva MCBO, Weimer TA. 1997. Evolutionary and anthropological implications of mitochondrial DNA variation in African Brazilian populations. Hum Biol 69:141-159.
10. Brown MD, Hosseini SH, Torroni A, Bandelt HJ, Allen JC, Schurr TG, Scozzari R, Cruciani F, Wallace DC. 1998. mtDNA haplo-group X: an ancient link between Europe/Western Asia and North America? Am J Hum Genet 63:1852-1861.
11. Buchanan AV, Sherry ST, Weiss KM, McGarvey ST, Neel JV, Stoneking M. 1993. Extraction of DNA from frozen red blood cells. Hum Biol 65:647-654.
12. Callegari-Jacques SM, Salzano FM. 1999. Brazilian Indian/non-Indian interactions and their effects. Cienc Cult 51:166-174.
13. 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.
14. Easton RD, Merriwether DA, Crews DE, Ferrell RE. 1996. mtDNA variation in the Yanomami: evidence for additional New World founding lineages. Am J Hum Genet 59:213-225.
15. Excoffier L, Yang Z. 1999. Substitution rate variation among sites in mitochondrial hypervariable region I of humans and chimpanzees. Mol Biol Evol 16:1357-1368.
16. Felsenstein J. 1985. Confidence limits on phylogenies: an approach using the bootstrap. Evolution 39:783-791.
17. Forster P, Harding R, Torroni A, Bandelt HJ. 1996. Origin and evolution of Native American mtDNA variation: a reappraisal. Am J Hum Genet 59:935-945.
18. Greenberg JH. 1987. Language in the Americas. Stanford: Stanford University Press.
19. Grimes BF. 1992. Ethnologue. Languages of the world. 12th ed. Dallas: Summer Institute of Linguistics.
20. 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.
21. Horai S, Kondo R, Nakagawa-Hattori Y, Hayasaki S, Sonoda S, Tajima K. 1993. Peopling of the Americas, founded by four major lineages of mitochondrial DNA. Mol Biol Evol 10:23-47.
22. Ingman M, Gyllensten U. 2001. Analysis of the complete human mtDNA genome: methodology and inferences for human evolution. J Hered 92:454-461.
23. Keyeux G, Rodas C, Gelvez N, Carter D. 2002. Possible migration routes into South America deduced from mitochondrial DNA studies in Colombian Amerindian populations. Hum Biol 74: 211-233.
24. Kolman CJ, Sambuughin N, Bermingham E. 1996. Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders. Genetics 142:1321-1334.
25. Kumar S, Tamura K, Nei M. 2001. MEGA, version 2.0. University Park: Pennsylvania State University.
26. Lobato da Silva DF, Ribeiro-dos-Santos AKC, Santos SEB. 2001. Diversidade genética de populações humanas na Amazônia. In: Vieira ICG, Silva JMC, Oren DC, D'Íncao MA, editors. Diversidade humana e cultural na Amazonia. Belém. Museu Paraense Emílio Goeldi. p 167-193.
27. Malhi RS, Smith DG. 2002. Haplogroup X confirmed in prehistoric North America. Am J Phys Anthropol 119:84-86.
28. Malhi RS, Eshleman JA, Greenberg JA, Weiss DA, Shook BAS, Kaestle FA, Lorenz JG, Kemp BM, Johnson JR, Smith DG. 2002. The structure of diversity within New World mitochondrial DNA haplogroups: implications for the prehistory of North America. Am J Hum Genet 70:905-919.
29. Merriwether DA, Kemp BM, Crews DE, Neel JV. 2000. Gene flow and genetic variation in the Yanomama as revealed by mitochondrial DNA. In: Renfrew C, editor. America past, America present: genes, and languages in the Americas and beyond. Cambridge: McDonald Institute for Archaeological Research, p 89-124.
30. 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 56:979-992.
31. Nagai A, Nakamura I, Shiraki F, Bunai Y, Ohya I. 2003. Sequence polymorphism of mitochondrial DNA in Japanese individuals from Gifu Prefecture. Legal Med [Suppl] 1:210-213.
32. Nei M. 1987. Molecular evolutionary genetics. New York: Columbia University Press.
33. Reidla M, Kivisild T, Metspalu E, Kaldma K, Tambets K, Tolk H-V, Parik J, Loogväli E-L, Derenko M, Malyarchuk B, Bermisheva M, Zhadanov S, Pennarun E, Gubina M, Golubenko M, Damba L, Fedorova S, Gusar V, Grechanina E, Mikerezi I, Moisan J-P, Chaventré A, Khusnutdinova E, Osipova L, Stepanov V, Voevoda M, Achilli A, Rengo C, Rickards O, De Stefano GF, Papiha S, Beckman L, Janicijevic B, Rudan P, Anagnou N, Michalodimitrakis E, Koziel S, Usanga E, Geberhiwot T, Herrnstadt C, Howell N, Torroni A, Villems R. 2003. Origin and diffusion of mtDNA haplogroup X. Am J Hum Genet 73:1178-1190.
34. Rieder MJ, Taylor SL, Tobe VO, Nickerson DA. 1998. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res 26:967-973.
35. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA. 1988. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487-491.
36. Saitou N, Nei M. 1987. The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol 4:406-425.
37. Sambrook EF, Fritsch F, Maniatis T. 1989. Molecular cloning. Cold Spring Harbor: Cold Spring Harbor Press.
38. Schurr TG. 2000. Mitochondrial DNA and the peopling of the New World. Am Sci 88:246-253.
39. Schurr TG, Ballinger SW, Gan YY, Hodge JA, Merriwether DA, Lawrence DN, Knowler WC, Weiss KM, Wallace DC. 1990. Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary lineages. Am J Hum Genet 46:613-623.
40. Shareware Phylogenetic Network Software. 2003. http://www. fluxus-engineering.com/sharenet.htm (accessed January 21, 2003).
41. Silva WA Jr, Bonatto SL, Holanda AJ, Ribeiro-dos-Santos AK, Paixão BM, Goldman GH, Abe-Sandes K, Rodriguez-Delfin L, Barbosa M, Paçó-Larson ML, Petzl-Erler ML, Valente V, Santos SEB, Zago MA. 2002. Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America. Am J Hum Genet 71:187-192.
42. 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.
43. Stone A, Stoneking M. 1998. mtDNA analysis of a prehistoric Oneota population: implications for the peopling of the New World. Am J Hum Genet 62:1153-1170.
44. Torroni A, Schurr TG, Yang CC, Szathmary EJE, Willians RC, Schanfield MS, Tramp GA, Knowler WC, Lawrence DN, Weiss KM, Wallace DC. 1992. Native American mitochondrial DNA analysis indicate that Amerind and Na-Dene populations were founded by two independent migrations. Genetics 130:153-162.
45. Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DG, Vullo CM, Wallace DC. 1993a. Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet 53:563-590.
46. Torroni A, Sukernik RI, Schurr TG, Starikovskaya YB, Cabell MF, Crawford MH, Comuzzie AG, Wallace DC. 1993b. mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet 53:591-608.
47. 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 USA 91:1158-1162.
48. Yao YG, Kong Q-P, Bandelt H-J, Kivisild T, Zhang Y-P. 2002. Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70:635-651.