• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of ajhgLink to Publisher's site
Am J Hum Genet. Dec 1998; 63(6): 1852–1861.
PMCID: PMC1377656

mtDNA haplogroup X: An ancient link between Europe/Western Asia and North America?

Abstract

On the basis of comprehensive RFLP analysis, it has been inferred that approximately 97% of Native American mtDNAs belong to one of four major founding mtDNA lineages, designated haplogroups "A"-"D." It has been proposed that a fifth mtDNA haplogroup (haplogroup X) represents a minor founding lineage in Native Americans. Unlike haplogroups A-D, haplogroup X is also found at low frequencies in modern European populations. To investigate the origins, diversity, and continental relationships of this haplogroup, we performed mtDNA high-resolution RFLP and complete control region (CR) sequence analysis on 22 putative Native American haplogroup X and 14 putative European haplogroup X mtDNAs. The results identified a consensus haplogroup X motif that characterizes our European and Native American samples. Among Native Americans, haplogroup X appears to be essentially restricted to northern Amerindian groups, including the Ojibwa, the Nuu-Chah-Nulth, the Sioux, and the Yakima, although we also observed this haplogroup in the Na-Dene-speaking Navajo. Median network analysis indicated that European and Native American haplogroup X mtDNAs, although distinct, nevertheless are distantly related to each other. Time estimates for the arrival of X in North America are 12,000-36,000 years ago, depending on the number of assumed founders, thus supporting the conclusion that the peoples harboring haplogroup X were among the original founders of Native American populations. To date, haplogroup X has not been unambiguously identified in Asia, raising the possibility that some Native American founders were of Caucasian ancestry.

Full Text

The Full Text of this article is available as a PDF (267K).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, et al. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. [PubMed]
  • Bailliet G, Rothhammer F, Carnese FR, Bravi CM, Bianchi NO. Founder mitochondrial haplotypes in Amerindian populations. Am J Hum Genet. 1994 Jul;55(1):27–33. [PMC free article] [PubMed]
  • Ballinger SW, Schurr TG, Torroni A, Gan YY, Hodge JA, Hassan K, Chen KH, Wallace DC. Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics. 1992 Jan;130(1):139–152. [PMC free article] [PubMed]
  • Bandelt HJ, Forster P, Sykes BC, Richards MB. Mitochondrial portraits of human populations using median networks. Genetics. 1995 Oct;141(2):743–753. [PMC free article] [PubMed]
  • Batista O, Kolman CJ, Bermingham E. Mitochondrial DNA diversity in the Kuna Amerinds of Panamá. Hum Mol Genet. 1995 May;4(5):921–929. [PubMed]
  • Bianchi NO, Bailliet G. Further comments on the characterization of founder Amerindian mitochondrial haplotypes. Am J Hum Genet. 1997 Jul;61(1):244–247. [PMC free article] [PubMed]
  • Easton RD, Merriwether DA, Crews DE, Ferrell RE. mtDNA variation in the Yanomami: evidence for additional New World founding lineages. Am J Hum Genet. 1996 Jul;59(1):213–225. [PMC free article] [PubMed]
  • Forster P, Harding R, Torroni A, Bandelt HJ. Origin and evolution of Native American mtDNA variation: a reappraisal. Am J Hum Genet. 1996 Oct;59(4):935–945. [PMC free article] [PubMed]
  • Foulds LR, Hendy MD, Penny D. A graph theoretic approach to the development of minimal phylogenetic trees. J Mol Evol. 1979 Jul 18;13(2):127–149. [PubMed]
  • Ginther C, Corach D, Penacino GA, Rey JA, Carnese FR, Hutz MH, Anderson A, Just J, Salzano FM, King MC. Genetic variation among the Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele frequencies of several nuclear genes. EXS. 1993;67:211–219. [PubMed]
  • Graven L, Passarino G, Semino O, Boursot P, Santachiara-Benerecetti S, Langaney A, Excoffier L. Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample. Mol Biol Evol. 1995 Mar;12(2):334–345. [PubMed]
  • Horai S, Kondo R, Nakagawa-Hattori Y, Hayashi S, Sonoda S, Tajima K. Peopling of the Americas, founded by four major lineages of mitochondrial DNA. Mol Biol Evol. 1993 Jan;10(1):23–47. [PubMed]
  • Horai S, Murayama K, Hayasaka K, Matsubayashi S, Hattori Y, Fucharoen G, Harihara S, Park KS, Omoto K, Pan IH. mtDNA polymorphism in East Asian Populations, with special reference to the peopling of Japan. Am J Hum Genet. 1996 Sep;59(3):579–590. [PMC free article] [PubMed]
  • Huoponen K, Torroni A, Wickman PR, Sellitto D, Gurley DS, Scozzari R, Wallace DC. Mitochondrial DNA and Y chromosome-specific polymorphisms in the Seminole Tribe of Florida. Eur J Hum Genet. 1997 Jan-Feb;5(1):25–34. [PubMed]
  • Kolman CJ, Sambuughin N, Bermingham E. Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders. Genetics. 1996 Apr;142(4):1321–1334. [PMC free article] [PubMed]
  • Lee SD, Shin CH, Kim KB, Lee YS, Lee JB. Sequence variation of mitochondrial DNA control region in Koreans. Forensic Sci Int. 1997 Jun 6;87(2):99–116. [PubMed]
  • Merriwether DA, Rothhammer F, Ferrell RE. Distribution of the four founding lineage haplotypes in Native Americans suggests a single wave of migration for the New World. Am J Phys Anthropol. 1995 Dec;98(4):411–430. [PubMed]
  • Nei M, Tajima F. Maximum likelihood estimation of the number of nucleotide substitutions from restriction sites data. Genetics. 1983 Sep;105(1):207–217. [PMC free article] [PubMed]
  • Piercy R, Sullivan KM, Benson N, Gill P. The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int J Legal Med. 1993;106(2):85–90. [PubMed]
  • Redd AJ, Takezaki N, Sherry ST, McGarvey ST, Sofro AS, Stoneking M. Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific. Mol Biol Evol. 1995 Jul;12(4):604–615. [PubMed]
  • Ribetio-dos-Santos AK, Santos SE, Machado AL, Guapindaia V, Zago MA. Heterogeneity of mitochondrial DNA haplotypes in Pre-Columbian Natives of the Amazon region. Am J Phys Anthropol. 1996 Sep;101(1):29–37. [PubMed]
  • Scozzari R, Cruciani F, Santolamazza P, Sellitto D, Cole DE, Rubin LA, Labuda D, Marini E, Succa V, Vona G, et al. mtDNA and Y chromosome-specific polymorphisms in modern Ojibwa: implications about the origin of their gene pool. Am J Hum Genet. 1997 Jan;60(1):241–244. [PMC free article] [PubMed]
  • Shields GF, Schmiechen AM, Frazier BL, Redd A, Voevoda MI, Reed JK, Ward RH. mtDNA sequences suggest a recent evolutionary divergence for Beringian and northern North American populations. Am J Hum Genet. 1993 Sep;53(3):549–562. [PMC free article] [PubMed]
  • Stone AC, Stoneking M. Ancient DNA from a pre-Columbian Amerindian population. Am J Phys Anthropol. 1993 Dec;92(4):463–471. [PubMed]
  • Stone AC, Stoneking M. mtDNA analysis of a prehistoric Oneota population: implications for the peopling of the New World. Am J Hum Genet. 1998 May;62(5):1153–1170. [PMC free article] [PubMed]
  • Stoneking M, Hedgecock D, Higuchi RG, Vigilant L, Erlich HA. Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes. Am J Hum Genet. 1991 Feb;48(2):370–382. [PMC free article] [PubMed]
  • Torroni A, Bandelt HJ, D'Urbano L, Lahermo P, Moral P, Sellitto D, Rengo C, Forster P, Savontaus ML, Bonné-Tamir B, et al. mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet. 1998 May;62(5):1137–1152. [PMC free article] [PubMed]
  • Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC. Classification of European mtDNAs from an analysis of three European populations. Genetics. 1996 Dec;144(4):1835–1850. [PMC free article] [PubMed]
  • Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC. 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 Oct;55(4):760–776. [PMC free article] [PubMed]
  • Torroni A, Miller JA, Moore LG, Zamudio S, Zhuang J, Droma T, Wallace DC. Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol. 1994 Feb;93(2):189–199. [PubMed]
  • Torroni A, Neel JV, Barrantes R, Schurr TG, Wallace DC. Mitochondrial DNA "clock" for the Amerinds and its implications for timing their entry into North America. Proc Natl Acad Sci U S A. 1994 Feb 1;91(3):1158–1162. [PMC free article] [PubMed]
  • Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DG, Vullo CM, Wallace DC. Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet. 1993 Sep;53(3):563–590. [PMC free article] [PubMed]
  • Torroni A, Schurr TG, Yang CC, Szathmary EJ, Williams RC, Schanfield MS, Troup GA, Knowler WC, Lawrence DN, Weiss KM, et al. Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations. Genetics. 1992 Jan;130(1):153–162. [PMC free article] [PubMed]
  • Torroni A, Sukernik RI, Schurr TG, Starikorskaya YB, Cabell MF, Crawford MH, Comuzzie AG, Wallace DC. mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet. 1993 Sep;53(3):591–608. [PMC free article] [PubMed]
  • Torroni A, Wallace DC. Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance. J Bioenerg Biomembr. 1994 Jun;26(3):261–271. [PubMed]
  • Ward RH, Frazier BL, Dew-Jager K, Päbo S. Extensive mitochondrial diversity within a single Amerindian tribe. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8720–8724. [PMC free article] [PubMed]
  • Ward RH, Redd A, Valencia D, Frazier B, Päbo S. Genetic and linguistic differentiation in the Americas. Proc Natl Acad Sci U S A. 1993 Nov 15;90(22):10663–10667. [PMC free article] [PubMed]
  • Watson E, Forster P, Richards M, Bandelt HJ. Mitochondrial footprints of human expansions in Africa. Am J Hum Genet. 1997 Sep;61(3):691–704. [PMC free article] [PubMed]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

Formats:

Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

  • Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans[Nature. 2014]
    Raghavan M, Skoglund P, Graf KE, Metspalu M, Albrechtsen A, Moltke I, Rasmussen S, Stafford TW Jr, Orlando L, Metspalu E, Karmin M, Tambets K, Rootsi S, Mägi R, Campos PF, Balanovska E, Balanovsky O, Khusnutdinova E, Litvinov S, Osipova LP, Fedorova SA, Voevoda MI, DeGiorgio M, Sicheritz-Ponten T, Brunak S, Demeshchenko S, Kivisild T, Villems R, Nielsen R, Jakobsson M, Willerslev E. Nature. 2014 Jan 2; 505(7481)87-91
  • Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups[Annals of human genetics. 2005]
    Starikovskaya EB, Sukernik RI, Derbeneva OA, Volodko NV, Ruiz-Pesini E, Torroni A, Brown MD, Lott MT, Hosseini SH, Huoponen K, Wallace DC. Annals of human genetics. 2005 Jan; 69(0 1)67-89
  • Reconciling migration models to the Americas with the variation of North American native mitogenomes[Proceedings of the National Academy of Scie...]
    Achilli A, Perego UA, Lancioni H, Olivieri A, Gandini F, Hooshiar Kashani B, Battaglia V, Grugni V, Angerhofer N, Rogers MP, Herrera RJ, Woodward SR, Labuda D, Smith DG, Cybulski JS, Semino O, Malhi RS, Torroni A. Proceedings of the National Academy of Sciences of the United States of America. 2013 Aug 27; 110(35)14308-14313
  • Reconstructing Native American Population History[Nature. 2012]
    Reich D, Patterson N, Campbell D, Tandon A, Mazieres S, Ray N, Parra MV, Rojas W, Duque C, Mesa N, García LF, Triana O, Blair S, Maestre A, Dib JC, Bravi CM, Bailliet G, Corach D, Hünemeier T, Bortolini MC, Salzano FM, Petzl-Erler ML, Acuña-Alonzo V, Aguilar-Salinas C, Canizales-Quinteros S, Tusié-Luna T, Riba L, Rodríguez-Cruz M, Lopez-Alarcón M, Coral-Vazquez R, Canto-Cetina T, Silva-Zolezzi I, Fernandez-Lopez JC, Contreras AV, Jimenez-Sanchez G, Gómez-Vázquez MJ, Molina J, Carracedo Á, Salas A, Gallo C, Poletti G, Witonsky DB, Alkorta-Aranburu G, Sukernik RI, Osipova L, Fedorova S, Vasquez R, Villena M, Moreau C, Barrantes R, Pauls D, Excoffier L, Bedoya G, Rothhammer F, Dugoujon JM, Larrouy G, Klitz W, Labuda D, Kidd J, Kidd K, Rienzo AD, Freimer NB, Price AL, Ruiz-Linares A. Nature. 2012 Aug 16; 488(7411)370-374
  • Arrival of Paleo-Indians to the Southern Cone of South America: New Clues from Mitogenomes[PLoS ONE. ]
    de Saint Pierre M, Gandini F, Perego UA, Bodner M, Gómez-Carballa A, Corach D, Angerhofer N, Woodward SR, Semino O, Salas A, Parson W, Moraga M, Achilli A, Torroni A, Olivieri A. PLoS ONE. 7(12)e51311
See all...

Links

  • MedGen
    MedGen
    Related information in MedGen
  • PubMed
    PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...