VOOZH about

URL: https://www.nature.com/articles/5201712?error=cookies_not_supported&code=535e43d0-ed43-4e2a-b876-d0833baf6bf1

⇱ A recent genetic link between Sami and the Volga-Ural region of Russia | European Journal of Human Genetics

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.

Abstract

The genetic origin of the Sami is enigmatic and contributions from Continental Europe, Eastern Europe and Asia have been proposed. To address the evolutionary history of northern and southern Swedish Sami, we have studied their mtDNA haplogroup frequencies and complete mtDNA genome sequences. While the majority of mtDNA diversity in the northern Swedish, Norwegian and Finnish Sami is accounted for by haplogroups V and U5b1b1, the southern Swedish Sami have other haplogroups and a frequency distribution similar to that of the Continental European population. Stratification of the southern Sami on the basis of occupation indicates that this is the result of recent admixture with the Swedish population. The divergence time for the Sami haplogroup V sequences is 7600 YBP (years before present), and for U5b1b1, 5500 YBP amongst Sami and 6600 YBP amongst Sami and Finns. This suggests an arrival in the region soon after the retreat of the glacial ice, either by way of Continental Europe and/or the Volga-Ural region. Haplogroup Z is found at low frequency in the Sami and Northern Asian populations but is virtually absent in Europe. Several conserved substitutions group the Sami Z lineages strongly with those from Finland and the Volga-Ural region of Russia, but distinguish them from Northeast Asian representatives. This suggests that some Sami lineages shared a common ancestor with lineages from the Volga-Ural region as recently as 2700 years ago, indicative of a more recent contribution of people from the Volga-Ural region to the Sami population.

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 on nature.com

or

👁 Image
Continue with Google
👁 Image
Continue with ORCiD

References

  1. Haglin L : Nutrient intake among Saami people today compared with an old, traditional Saami diet. Arctic Med Res 1991; 50 (Suppl 1): 741–746.

    Google Scholar 

  2. Luoma P : Antioxidants, infections and environmental factors in health and disease in northern Finland. Int J Circumpolar Health 1998; 57: 109–113.

    CAS  PubMed  Google Scholar 

  3. Iregren E, Isberg PE : Genetic composition and variation in Saami populations in northern Norway compared with Nordic populations in middle Norway. A study of non-metric skull variants. Arctic Med Res 1988; 47 (Suppl 1): 218–225.

    PubMed  Google Scholar 

  4. Iregren E, Isberg PE : Ethnicity of Scandinavian populations from 1050–1500 A. D Anthropol Anz 1993; 51: 193–205.

    CAS  PubMed  Google Scholar 

  5. Beckman LE, Sjoberg K, Eriksson S, Beckman L : Haemochromatosis gene mutations in Finns, Swedes and Swedish Saamis. Hum Hered 2001; 52: 110–112.

    Article  CAS  PubMed  Google Scholar 

  6. Fan C, Sikstrom C, Beckman G, Beckman L : Orosomucoid polymorphism in Finns, Swedes and Swedish Saamis. Hum Hered 1993; 43: 272–275.

    Article  CAS  PubMed  Google Scholar 

  7. Cavalli-Sforza LL, Menozzi P, Piazza A : Demic expansions and human evolution. Science 1993; 259: 639–646.

    Article  CAS  PubMed  Google Scholar 

  8. Sajantila A, Lahermo P, Anttinen T et al: Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res 1995; 5: 42–52.

    Article  CAS  PubMed  Google Scholar 

  9. Nei M, Roychoudhury AK : Evolutionary relationships of human populations on a global scale. Mol Biol Evol 1993; 10: 927–943.

    CAS  PubMed  Google Scholar 

  10. Zerjal T, Dashnyam B, Pandya A et al: Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 1997; 60: 1174–1183.

    CAS  PubMed  PubMed Central  Google Scholar 

  11. Ingman M, Gyllensten U : mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res 2006; 34: D749–751.

    Article  CAS  PubMed  Google Scholar 

  12. Torroni A, Huoponen K, Francalacci P et al: Classification of European mtDNAs from an analysis of three European populations. Genetics 1996; 144: 1835–1850.

    CAS  PubMed  PubMed Central  Google Scholar 

  13. Macaulay V, Richards M, Hickey E et al: The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am J Hum Genet 1999; 64: 232–249.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Tambets K, Rootsi S, Kivisild T et al: The western and eastern roots of the Saami--the story of genetic ‘outliers’ told by mitochondrial DNA and Y chromosomes. Am J Hum Genet 2004; 74: 661–682.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Richards MB, Macaulay VA, Bandelt HJ, Sykes BC : Phylogeography of mitochondrial DNA in western Europe. Ann Hum Genet 1998; 62 (Part 3): 241–260.

    Article  CAS  PubMed  Google Scholar 

  16. Richards M, Macaulay V, Hickey E et al: Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 2000; 67: 1251–1276.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Comas D, Calafell F, Mateu E et al: Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations. Am J Hum Genet 1998; 63: 1824–1838.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Yao YG, Kong QP, Bandelt HJ, Kivisild T, Zhang YP : Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 2002; 70: 635–651.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Schurr TG, Sukernik RI, Starikovskaya YB, Wallace DC : Mitochondrial DNA variation in Koryaks and Itel'men: population replacement in the Okhotsk Sea-Bering Sea region during the Neolithic. Am J Phys Anthropol 1999; 108: 1–39.

    Article  CAS  PubMed  Google Scholar 

  20. Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP : Phylogeny of East Asian Mitochondrial DNA Lineages Inferred from Complete Sequences. Am J Hum Genet 2003; 73: 671–676.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Kong QP, Yao YG, Liu M et al: Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Hum Genet 2003; 113: 391–405.

    Article  CAS  PubMed  Google Scholar 

  22. Rieder MJ, Taylor SL, Tobe VO, Nickerson DA : Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acid Res 1998; 26: 967–973.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Anderson S, Bankier AT, Barrell BG et al: Sequence and organization of the human mitochondrial genome. Nature 1981; 290: 457–465.

    Article  CAS  PubMed  Google Scholar 

  24. Rozas J, Rozas R : DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis. Bioinformatics 1999; 15: 174–175.

    Article  CAS  PubMed  Google Scholar 

  25. Saitou N, Nei M : The neighbor-joining method: a new method for reconstructing phylogenetic trees. Mol Biol Evol 1987; 4: 406–425.

    CAS  PubMed  Google Scholar 

  26. Swofford DL : PAUP*. Phylogenetic Analysis Using Parsimony (*and Other Methods). Sunderland, Massachusetts: Sinauer Associates, 2000.

    Google Scholar 

  27. Kimura M : A simple method for estimating evolutionary rates of base substitutions through comparative studies of nucleotide sequences. J Mol Evol 1980; 16: 111–120.

    Article  CAS  PubMed  Google Scholar 

  28. Ingman M, Kaessmann H, Pääbo S, Gyllensten U : Mitochondrial genome variation and the origin of modern humans. Nature 2000; 408: 708–713.

    Article  CAS  PubMed  Google Scholar 

  29. Chikhi L, Bruford MW, Beaumont MA : Estimation of admixture proportions: a likelihood-based approach using Markov chain Monte Carlo. Genetics 2001; 158: 1347–1362.

    CAS  PubMed  PubMed Central  Google Scholar 

  30. Meinilä M, Finnilä S, Majamaa K : Evidence for mtDNA admixture between the Finns and the Saami. Hum Hered 2001; 52: 160–170.

    Article  PubMed  Google Scholar 

  31. Achilli A, Rengo C, Battaglia V et al: Saami and Berbers – An unexpected mitochondrial DNA link. Am J Hum Genet 2005; 76: 883–886.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Hassler S, Sjölander P, Johansson R, Gronberg H, Damber L : Fatal accidents and suicide among reindeer-herding Sami in Sweden. Int J Circumpolar Health 2004; 63 (Suppl 2): 384–388.

    Article  PubMed  Google Scholar 

  33. Kaessmann H, Zöllner S, Gustafsson AC et al: Extensive linkage disequilibrium in small human populations in Eurasia. Am J Hum Genet 2002; 70: 673–685.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  34. Laan M, Pääbo S : Demographic history and linkage disequilibrium in human populations. Nat Genet 1997; 17: 435–438.

    Article  CAS  PubMed  Google Scholar 

  35. Kaessmann H, Zöllner S, Gustafsson AC et al: Extensive linkage disequilibrium in small human populations in Eurasia. Am J Hum Genet 2002; 70: 673–685.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  36. Kauppi L, Sajantila A, Jeffreys AJ : Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region. Hum Mol Genet 2003; 12: 33–40.

    Article  CAS  PubMed  Google Scholar 

  37. Kittles RA, Perola M, Peltonen L et al: Dual origin of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet 1998; 62: 1171–1179.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Dupuy BM, Olaisen B : MtDNA sequences in the Norwegian Saami and main population; in: Carracedo A, Brinkmann B, Bär W (eds): Advances in forensic haemogenetics. Berlin, Heidelberg, New York: Springer-Verlag, 1996, Vol. 6, pp 23–25.

    Google Scholar 

  39. Delghandi M, Utsi E, Krauss S : Saami mitochondrial DNA reveals deep maternal lineage clusters. Hum Hered 1998; 48: 108–114.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

We thank the participants from the Sami communities for their participation. Also, we are grateful for the samples provided by Dr Tambets (Department of Evolutionary Biology, Institute of Molecular and Cell Biology, University of Tartu and Estonian Biocentre, Tartu, Estonia). The study was supported by grants from the National Swedish Research Council (VR-M, N) and the Knut and Alice Wallenberg Foundation (KAW).

Author information

Authors and Affiliations

  1. Department of Genetics and Pathology, Rudbeck Laboratory, University of Uppsala, Uppsala, Sweden

    Max Ingman & Ulf Gyllensten

  2. Centre for Integrative Genomics, University of Lausanne, Lausanne, Switzerland

    Max Ingman

Authors
  1. Max Ingman
  2. Ulf Gyllensten

Corresponding author

Correspondence to Ulf Gyllensten.

About this article

Cite this article

Ingman, M., Gyllensten, U. A recent genetic link between Sami and the Volga-Ural region of Russia. Eur J Hum Genet 15, 115–120 (2007). https://doi.org/10.1038/sj.ejhg.5201712

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1038/sj.ejhg.5201712

Keywords

Search

Advanced search

Quick links