Movatterモバイル変換

[0]ホーム
URL:

Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Advertisement

European Journal of Human Genetics
  • Article
  • Published:

The place of the Basques in the European Y-chromosome diversity landscape

European Journal of Human Geneticsvolume 13, pages1293–1302 (2005)Cite this article

Abstract

There is a trend to consider the gene pool of the Basques as a ‘living fossil’ of the earliest modern humans that colonized Europe. To investigate this assumption, we have typed 45 binary markers and five short tandem repeat loci of the Y chromosome in a set of 168 male Basques. Results on these combined haplotypes were analyzed in the context of matching data belonging to approximately 3000 individuals from over 20 European, Near East and North African populations, which were compiled from the literature. Our results place the low Y-chromosome diversity of Basques within the European diversity landscape. This low diversity seems to be the result of a lower effective population size maintained through generations. At least some lineages of Y chromosome in modern Basques originated and have been evolving since pre-Neolithic times. However, the strong genetic drift experienced by the Basques does not allow us to consider Basques either the only or the best representatives of the ancestral European gene pool. Contrary to previous suggestions, we do not observe any particular link between Basques and Celtic populations beyond that provided by the Paleolithic ancestry common to European populations, nor we find evidence supporting Basques as the focus of major population expansions.

Similar content being viewed by others

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more onnature.com

or

References

  1. Barbujani G : Genes, people and languages.Am J Hum Genet 2000;67: 264–266.

    Article PubMed Central  Google Scholar 

  2. Etcheverry MA : El factor rhesus: su genética e importancia clínica.El Día Médico 1945;17: 1237–1259.

    CAS PubMed  Google Scholar 

  3. Mourant AE : The blood groups of the Basques.Nature 1947;160: 505.

    Article CAS PubMed  Google Scholar 

  4. Bertranpetit J, Cavalli-Sforza LL : A genetic reconstruction of the history of the population of the Iberian Peninsula.Ann Hum Genet 1991;5: 51–67.

    Article  Google Scholar 

  5. Gorrochategui J : Planteamiento de la linguística histórica en la datación del euskara; in XV Congreso de Estudios Vascos Donostia/San Sebastian: Eusko Ikaskuntza/Sociedad de Estudios Vascos, 2002, pp 103–114.

  6. Wilson JF, Weiss DA, Richards M, Thomas M, Bradman N, Goldstein DB : Genetic evidence for different male and female roles during cultural transitions in the British Isles.Proc Natl Acad Sci USA 2001;98: 5078–5083.

    Article CAS PubMed PubMed Central  Google Scholar 

  7. Chikhi L, Nichols RA, Barbujani G, Beaumont MA : Y genetic data support the Neolithic demic diffusion model.Proc Natl Acad Sci USA 2002;99: 11008–11013.

    Article CAS PubMed PubMed Central  Google Scholar 

  8. González AM, Brehm A, Pérez JA, Maca-Meyer N, Flores C, Cabrera VM : Mitochondrial DNA Affinities at the Atlantic Fringe of Europe.Am J Phys Anthropol 2003;120: 391–404.

    Article PubMed  Google Scholar 

  9. Flores C, Maca-Meyer N, González AMet al: Reduced genetic structure of the Iberian Peninsula revealed by Y-chromosome analysis: implications for population demography.Eur J Hum Genet 2003;12: 855–863.

    Article  Google Scholar 

  10. Underhill PA, Shen P, Lin AAet al: Y chromosome sequence variation and the history of human populations.Nat Genet 2000;26: 358–361.

    Article CAS PubMed  Google Scholar 

  11. Bosch E, Calafell F, Comas D, Oefner PJ, Underhill PA, Bertranpetit J : High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between Northwestern Africa and the Iberian Peninsula.Am J Hum Genet 2001;68: 1019–1029.

    Article CAS PubMed PubMed Central  Google Scholar 

  12. Brión M, Salas A, González-Neira A, Lareu MV, Carracedo A : Insights into Iberian population origins through the construction of highly informative Y-chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatellite.Am J Phys Anthropol 2003;122: 147–161.

    Article PubMed  Google Scholar 

  13. Jobling MA, Tyler-Smith C : The human Y chromosome: an evolutionary marker comes of age.Nat Rev Genet 2003;4: 598–612.

    Article CAS PubMed  Google Scholar 

  14. Flores C, Maca-Meyer N, Pérez JA, González AM, Larruga JM, Cabrera V : A predominant European ancestry of paternal lineages from Canary islanders.Ann Hum Genet 2003;67: 138–152.

    Article CAS PubMed  Google Scholar 

  15. Semino O, Passarino G, Oefner PJet al: The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective.Science 2000;290: 1155–1159.

    Article CAS PubMed  Google Scholar 

  16. Cinnio∂lu C, King R, Kivisild Tet al: Excavating Y-chromosome haplotype strata in Anatolia.Hum Genet 2004;114: 127–148.

    Article  Google Scholar 

  17. Y Chromosome Consortium: a nomenclature system for the tree of human Y-chromosomal binary haplogroups.Genome Res 2002;12: 339–348.

  18. García O, Martín P, Gusmao Let al: A Basque Country autochthonous population study of 11 Y-chromosome STR loci.Forensic Sci Int 2004;145: 65–68.

    Article PubMed  Google Scholar 

  19. Schneider S, Roessli D, Excoffier L :Arlequin Ver. 2.000: a software for population genetics data analysis. Switzerland: Genetics and Biometry Laboratory, University of Geneva, 2000.

    Google Scholar 

  20. Reynolds JB, Weir S, Cockerham CC : Estimation for the coancestry coefficient: basis for a short-term genetic distance.Genetics 1983;105: 767–779.

    CAS PubMed PubMed Central  Google Scholar 

  21. Wilson IJ, Weale ME, Balding DJ : Inferences from DNA data: population histories, evolutionary processes and forensic match probabilities.J Roy Statist Soc A 2003;166: 155–201.

    Article  Google Scholar 

  22. Kayser M, Roewer L, Hedman Met al: Characteristics and frequency of germline mutations atSTR loci from the human Y chromosome, as revealed by direct observation in father/son pairs.Am J Hum Genet 2000;66: 1580–1588.

    Article CAS PubMed PubMed Central  Google Scholar 

  23. Zhivotovsky LA, Underhill PA, Cinnioglu Cet al: The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time.Am J Hum Genet 2004;74: 50–61.

    Article CAS PubMed  Google Scholar 

  24. Hurles ME, Veitia R, Arroyo Eet al: Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-Chromosomal DNA polymorphism.Am J Hum Genet 1999;65: 1437–1448.

    Article CAS PubMed PubMed Central  Google Scholar 

  25. Rosser HZ, Zerjal T, Hurles MEet al: Y-Chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.Am J Hum Genet 2000;67: 1526–1543.

    Article CAS PubMed PubMed Central  Google Scholar 

  26. Maca-Meyer N, Sánchez-Velasco P, Flores Cet al: Y chromosome and mitochondrial DNA characterization of Pasiegos, a human isolate from Cantabria (Spain).Ann Hum Genet 2003;67: 329–339.

    Article CAS PubMed  Google Scholar 

  27. Aguirre AI, Vicario A, Mazón LIet al: Are the Basques a single and a unique population?Am J Hum Genet 1991;49: 450–458.

    CAS PubMed PubMed Central  Google Scholar 

  28. Iriondo M, Barbero MC, Manzano C : DNA polymorphisms detect ancient barriers to gene flow in Basques.Am J Phys Anthropol 2003;122: 73–84.

    Article CAS PubMed  Google Scholar 

  29. Cavalli-Sforza L, Feldman MW : Spatial subdivision of populations and estimates of genetic variation.Theor Popul Biol 1990;37: 3–25.

    Article CAS PubMed  Google Scholar 

  30. Alonso S, Armour JAL : MS205 minisatellite diversity in Basques: evidence for a pre-Neolithic component.Genome Res 1998;8: 1289–1298.

    Article CAS PubMed PubMed Central  Google Scholar 

  31. Hill EW, Jobling M, Bradley DG : Y-chromosome variation and Irish origins.Nature 2000;404: 351–352.

    Article CAS PubMed  Google Scholar 

  32. De la Rúa C : Los estudios de paleoantropología en el País Vasco.Munibe 1990;42: 199–219.

    Google Scholar 

  33. Izagirre N, de la Rúa 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;65: 199–207.

    Article CAS PubMed PubMed Central  Google Scholar 

  34. Torroni A, Bandelt HJ, D'Urbano Let al: mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe.Am J Hum Genet 1998;62: 1137–1152.

    Article CAS PubMed PubMed Central  Google Scholar 

  35. Achilli A, Rengo C, Magri Cet al: The molecular dissection of mitochondrial DNA haplogroup H confirms that the franco-cantabrian glacial refuge was a major source for the European gene pool.Am J Hum Genet 2004;75: 910–918.

    Article CAS PubMed PubMed Central  Google Scholar 

  36. Bandelt HJ, Forster P, Röhl A : Median-joining networks for inferring intraespecific phylogenies.Mol Biol Evol 1999;16: 37–48.

    Article CAS PubMed  Google Scholar 

Download references

Acknowledgements

CF is a FUNCIS Postdoctoral Fellow. SA is a Ramón y Cajal Fellow. This work has been partly funded by Ministerio de Educación y Ciencia and by the UPV/EHU project 9/UPV 00154.310-14495/2002 (to CR) and by grants BMC2001-3511 from Ministerio de Ciencia y Tecnología and COF2002-015 from Gobierno de Canarias to VMC.

Author information

Authors and Affiliations

  1. Dpto. Genética, Antropología Física y Fisiología Animal, Fac. Ciencia y Tecnología, UPV/EHU, Barrio Sarriena s/n 48940, Leioa, Bizkaia, Spain

    Santos Alonso, Neskuts Izagirre & Concepción de la Rúa

  2. Unidad de Investigación, Hospital Univ. N.S. de Candelaria, Tenerife, 38010, Spain

    Carlos Flores

  3. Dpto. de Genética, Fac. de Biología, Univ. de La Laguna, Tenerife, 38271, Spain

    Vicente Cabrera

  4. Instituto Nacional de Toxicología y Ciencias Forenses, Sección de Biología, Luis Cabrera 9, Madrid, 28002, Spain

    Antonio Alonso, Pablo Martín & Cristina Albarrán

  5. Área de Lab. Ertzaintza, Larrauri Mendotxe Bidea 18, Erandio, 48950, Bizkaia, Spain

    Oscar García

Authors
  1. Santos Alonso
  2. Carlos Flores
  3. Vicente Cabrera
  4. Antonio Alonso
  5. Pablo Martín
  6. Cristina Albarrán
  7. Neskuts Izagirre
  8. Concepción de la Rúa
  9. Oscar García

Corresponding author

Correspondence toSantos Alonso.

Additional information

Supplementary Information accompanies the paper on European Journal of Human Genetics website (http://www.nature.com/ejhg)

Rights and permissions

About this article

Cite this article

Alonso, S., Flores, C., Cabrera, V.et al. The place of the Basques in the European Y-chromosome diversity landscape.Eur J Hum Genet13, 1293–1302 (2005). https://doi.org/10.1038/sj.ejhg.5201482

Download citation

Keywords

This article is cited by

Search

Advanced search

Quick links

[8]ページ先頭
©2009-2026 Movatter.jp