International Journal of Anthropology

, Volume 17, Issue 1, pp 27–40 | Cite as

Ancient mtDNA haplogroups: a new insight into the genetic history of European populations

  • Izaguirre N. 
  • Rua C. De La 


In the present work, DNA was extracted from 63 skeletal samples recovered at the Neolithic site of San Juan ante Portam Latinam (SJAPL) (Araba, Basque Country). These samples have proved useful as genetic material for the performance of population studies. To achieve this it was necessary to overcome the methodological problems arising when working with damaged DNA molecules. We succeeded in performing an amplification and restriction analysis of the polymorphisms present in the mtDNA. Ninety seven percent of the samples were classified as belonging to one of the nine mtDNA haplogroups described in Caucasians. This work shows that restriction analysis is a useful methodological tool to perform reliable population genetic analysis on archaeological remains. Tha analysis of ancient and modern haplogroup distribution can shed more light on the genetic evolution of human populations. Moreover, a more exhaustive data on prehistoric populations will allow to build stronger hypothesis on the genetic relationships among human populations.


ancient DNA mtDNA haplogroups Basques genetic population 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Aguirre A., Vicario A., Mazón L.I., Estomba A., Martínez de Pancorbo M., Arrieta Pico V., Pérez Elortondo F., Lostao C.M. (1991). Are the Basques a single and a unique population? American Journal of Human Genetics, 49: 450–458Google Scholar
  2. Anderson S., Bankier A.T., Barrell B.G., Bruijn, Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J.H., Staden R., Young I.G. (1981). Sequence and organization of the human mitochondrial genome. Nature, 290: 457–465CrossRefGoogle Scholar
  3. Brown T.A. and Brown K.A. (1992). Ancient DNA and the archaeologist. Antiquity, 66: 1–23Google Scholar
  4. Calafell F. and Bertranpetit J. (1994). Principal component analysis of gene frequencies and the origin of Basques. American Journal of Physical Anthropology, 93: 201–215CrossRefGoogle Scholar
  5. Cooper A. (1994). DNA from museum specimens. In Herrmann B. and Hummel S. (eds) Ancient DNA. Recovery and analysis of genetic material from paleontological, archaeological, museum, medical, and forensic specimen. New York: Springer-Verlag, pp. 149–165Google Scholar
  6. Chen Y.-S., Torroni A., Excoffier L. Santachiara-Benerecetti A.S., Wallace D.C. (1995). Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. American Journal of Human Genetics, 57: 133–149Google Scholar
  7. de la Rúa C., Baraybar J.P., Cuende M., Manzano C. (1995). La sepultura colectiva de San Juan ante Portam Latinam (Laguardia, Alava): contribución de la Antropología a la interpretación del ritual funerario. Rubricatum (I Congreso del Neolítico de la Península Ibérica), 1: 585–589Google Scholar
  8. Doran G.H., Dickel D.N., Ballinger W.E.Jr., Agee O.F., Laipis P.J., Hauswirth W.W. (1986). Anatomical, cellular and molecular analysis of 8,000-year old human brain tissue from the Windower archaeological site. Nature, 323: 803–806CrossRefGoogle Scholar
  9. Etxeberria F. and Vegas J.I. (1988). Agresividad social o guerra? Durante el neo-eneolítico en la cuenca media del valle del Ebro, a propósito de San Juan Ante Portam Latinam (Rioja Alavesa). Munibe (Antropología-Arqueología), 6: 105–112Google Scholar
  10. Ginther C., Issel-Tarver L., King M.C. (1992). Identifying individuals by sequencing mitochondrial DNA from teeth. Nature Genetics, 2: 135–138CrossRefGoogle Scholar
  11. Hagelberg E. (1994). Mitochondrial DNA from ancient bones. In Herrmann B. and Hummel S. (eds) Ancient DNA. Recovery and analysis of genetic material from paleontological, archaeological, museum, medical, and forensic specimens. New York: Springer-Verlag, pp. 195–204Google Scholar
  12. Hagelberg E. and Clegg J.B. (1991). Isolation and characterization of DNA from archaeological bone. Proceedings of the Royal Society of London B, 244: 45–50Google Scholar
  13. Handt O., Richards M., Trommsdorff M., Kilger C., Simanainen J., Georgiev O., Bauer K., Stone A., Hedges R., Schaffner W., Utermann G., Sykes B., Pääbo S. (1994). Molecular genetic analyses of the Tyrolean Ice Man. Science, 264: 1775–1778Google Scholar
  14. Higuchi R, (1992). Dr. Russ' problem corner. Ancient DNA Newsletter, 1: 6–8Google Scholar
  15. Higuchi R.G., Wrischnik L.A., Oakes E., George M., Tong B., Wilson A.C. (1987). Mitochondrial DNA of the extinct quagga: relatedness and extent of postmortem change. Journal of Molecular Evolution, 25: 283–287Google Scholar
  16. Higuchi R.G., Bowman B., Freiberger M., Ryder O.A., Wilson A.C. (1984). DNA sequences from the quagga, an extinct member of the horse family. Nature, 312: 282–284CrossRefGoogle Scholar
  17. Hummel S. and Herrman B. (1994). General aspects of sample preparation. In Herrmann B. and Hummel S. (eds) Ancient DNA. Recovery and analysis of genetic material from paleontological, archaeological, museum, medical, and forensic specimens. New York: Springer-Verlag, pp. 59–68Google Scholar
  18. Iriondo M., de la Rúa C., Manzano C. (1999). Una nueva perspectiva sobre la estructura genética de la población vasca peninsular: inferencias acerca del efecto del flujo génico y la deriva genética. Revista Española de Antropología Biológica, 20: 181–193Google Scholar
  19. Izagirre N. and de la Rúa C. (1999). An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major Paleolithic expansion from sothwestern Europe. American Journal of Human Genetics, 65: 199–207CrossRefGoogle Scholar
  20. Krings M., Stone A., Schmitz R.W., Krainitz H., Stoneking M., Pääbo S. (1997). Neanderthal DNA sequences and the origin of modern humans. Cell, 90: 19–30CrossRefGoogle Scholar
  21. Macaulay V., Richards M., Hickey E., Vega E., Cruciani F., Guida V., Scozzari R., Bonné-Tamir B., Sykes B., Torroni T. (1999). The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. American Journal of Human Genetics, 64: 232–249CrossRefGoogle Scholar
  22. Lalueza C. (1996). Analysis of ancient mitochondrial DNA from extinct aborigenes from Tierra del Fuego-Patagonia. Ancient Biomolecules, 1: 43–54Google Scholar
  23. Manzano C., Orue J.M., de la Rúa C. (1996). The “Basqueness” of the Basques of Alava: a reappraisal from a multidisciplinary perspective. American Journal of Physical Anthropology, 99: 249–258CrossRefGoogle Scholar
  24. Merriwether D.A., Rothhammer F., Ferrell R.E. (1994). Genetic variation in the New World: ancient teeth, bone, and tissue as sources of DNA. Experientia, 50: 592–601CrossRefGoogle Scholar
  25. Montiel R., Malgosa A., Francalacci P. (1999). Autentificación del ADN antiguo. XI Congreso de la Soc. Española de Antropología Biológica, Santiago de Compostela. (in press)Google Scholar
  26. Mullis K.B. and Faloona F.A. (1987). Specific synthesis of DNA in vitro via a polymerase-catalysed chain reaction. Methodologies in Enzymology, 155: 335–350CrossRefGoogle Scholar
  27. Nei M. (1987). Molecular Evolutionary Genetics Columbia University Press, New York, NY.Google Scholar
  28. O'Rourke D.H., Carlyle S.W., Parr R.L. (1996). Ancient DNA: methods, progress, and perspectives. American Journal of Human Biology, 8: 557–571CrossRefGoogle Scholar
  29. Pääbo S. (1986). Molecular genetic investigations of ancient human remains. Cold Spring Harbor Symposia on Quantitative Biology, LI: 441–446Google Scholar
  30. Pääbo S., Irwin D.M., Wilson A.C. (1990). DNA damage promotes jumping between templates during enzimatic amplification. Journal of Biological Chemistry, 15: 4718–4721Google Scholar
  31. Pääbo S. and Wilson A.C. (1988). Polymerase chain reaction reveals cloning artefacts. Nature, 334: 387–388CrossRefGoogle Scholar
  32. Parr R.L., Carlyle S.W., O'Rourke D.H. (1996). Ancient DNA analysis of Fremont Amerindians of the Great Salt Lake Wetlands. American Journal of Physical Anthropology, 99: 507–518CrossRefGoogle Scholar
  33. Richards M., Smaleey K., Sykes B., Hedges R. (1993). Archaeology and genetics: analysing DNA from skeletal remains. World Archaeology, 25: 18–28CrossRefGoogle Scholar
  34. Rogan P.K. and Salvo J.J. (1990). Study of nucleic acids isolated from ancient remains. Yearbook of Physical Anthropology, 33: 195–214CrossRefGoogle Scholar
  35. Saiki R.C., Gelfand D.H., Stoffel S., Scharf S., Higuchi R., Horn G.T., Mullis K.B., Erlich H.A. (1988). Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science, 239: 487–491Google Scholar
  36. Saiki R.K., Scharf S., Faloona F., Mullis K.B., Horn G.T., Erlich H.A., Arnheim N. (1985). Enzymatic amplification of bð-globulin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science, 230: 1850–1854Google Scholar
  37. Stone A. and Stoneking M. (1998). mtDNA analysis of a prehistoric Oneota population: implications for the peopling of the New World. American Journal of Human Genetics, 62: 1153–1170CrossRefGoogle Scholar
  38. Stone A. and Stoneking M. (1993). Ancient DNA from pre-columbian amerindian population. American Journal of Physical Anthropology, 92: 463–471CrossRefGoogle Scholar
  39. Thuesen I. and Engberg J. (1990). Recovery and analysis of human genetic material from mummified tissue and bone. Journal of Archaeological Sciences, 17: 679–689CrossRefGoogle Scholar
  40. Torroni A., Bandelt H.-J., D'urbano L., Lahermo P., Moral P., Sellitto D., Rengo C., Forster P., Savontaus M.-L., Bonne-Tamir B., Scozzari R. (1998). MtDNA analysis reveals a major late Palaeolithic population expansion from southwestern to northeastern Europe. American Journal of Human Genetics, 62: 1137–1152CrossRefGoogle Scholar
  41. Torroni A., Huoponen K., Francalacci P., Petrozzi M., Morelli L., Scozzari R., Obinu D., Savontaus M-l., Wallace D.C. (1996). Classification of European mtDNAs from an analysis of three European populations. Genetics, 144: 1835–1850Google Scholar
  42. Torroni A. and Wallace D.C. (1995). mtDNA Haplogroups in Native Americans. American Journal of Human Genetics, 56: 1234–1235.Google Scholar
  43. Torroni A., Lott M.T., Cabell M.F., Chen Y.-S., Lavergne L., Wallace D.C. (1994). MtDNA and the origin of caucasians: identification of ancient caucasian-specific haplogroups, one of which is prone to recurrent somatic duplication in the D-loop region. American Journal of Human Genetics, 55: 760–776Google Scholar
  44. Tuross N. (1994). The biochemistry of ancient DNA in bone. Experientia, 50: 530–535CrossRefGoogle Scholar
  45. Yang D.Y., Eng B., Waye J.S., Dudar J.C., Saunders S.R. (1998). Technical Note: Improved DNA extraction from ancient bones using silica-based spin columns. American Journal of Physical Anthropology, 105: 539–543.CrossRefGoogle Scholar

Copyright information

© International Institute for the Study of Man 2002

Authors and Affiliations

  • Izaguirre N. 
    • 1
  • Rua C. De La 
    • 1
  1. 1.Zientzi Fakultatea. Animali Biologia eta Genetika SailaEuskal Herriko Unibertsitatea (U.P.V./E.H.U.)BILBO(Spain)

Personalised recommendations