Skip to main content
SpringerLink
Log in

A concordance of nucleotide substitutions in the first and second hypervariable segments of the human mtDNA control region

  • Original Article
  • Published:
International Journal of Legal Medicine Aims and scope Submit manuscript

Abstract

A new and easily accessible concordance of nucleotide substitutions in the hypervariable segments of the human mitochondrial DNA (mtDNA) control region has been constructed. The concordance indexes all population-specific mtDNA sequences in a standardized format. The first edition of the concordance includes 1,440 sequences representing 762 mtDNA types from over 65 populations for hypervariable region 1, and 520 sequences representing 260 mtDNA types from over 26 populations for hypervariable region 2. Investigators are invited to submit new sequences to the database, and details for doing so are given in the text.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Gill P, Ivanov PL, Kimpton C, Piercy R, Benson N, Tully G, Evett I, Hagelberg E, Sullivan K (1994) Identification of the remains of the Romanov family by DNA analysis. Nat Genet 6:130–135

    PubMed  Google Scholar 

  2. Avise JC, Lansman RA (1983) Polymorphism of mitochondrial DNA in populations of higher animals. In: Nei M, Koehn RK (eds) Evolution of genes and proteins. Sinauer Associates, Sunderland, Mass. pp 147–190

    Google Scholar 

  3. Avise JC, Saunders NC (1984) Mitochondrial DNA and the evolutionary genetics of higher animals. Genetics 108:237–255

    PubMed  Google Scholar 

  4. Chakraborty B, Weiss KM (1991) Genetic variation of the mitochondrial DNA genome in American Indians is at mutation-drift equilibrium. Am J Phys Anthropol 86:497–506

    PubMed  Google Scholar 

  5. Hagelberg E, Clegg JB (1993) Genetic polymorphisms in prehistoric Pacific Islanders determined by analysis of ancient bone DNA. Proc R Soc Lond B Biol Sci 252:163–170

    PubMed  Google Scholar 

  6. The Oxford English dictionary: compact edition 9th edn. (1971) Oxford University Press, Oxford

  7. Wisbey RA (1971) Publications from an archive of computer-readable literary texts. In: Wisbey RA (ed) The computer in literary and linguistic research. Cambridge University Press, Cambridge; pp 19–34

    Google Scholar 

  8. Dawson JL (1984) Preparing a computer concordance to the works of St. Anselm. In: Gilmour-Bryson A (ed) Computer applications to medieval studies. Medieval Institute Publications, Western Michigan University, Kalamazoo, pp 23–29

    Google Scholar 

  9. Oxford University computing service (1988) The Oxford concordance program, version 2. Oxford University Press, Oxford

    Google Scholar 

  10. Microsoft Corporation (1995) Microsoft Excell, version 5.0.

  11. Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465

    PubMed  Google Scholar 

  12. Vigilant L, Pennington R, Harpending H, Kocher TD, Wilson AC (1989) Mitochondrial DNA sequences in single hairs from a southern African population. Proc Natl Acad Sci USA 86:9350–9354

    PubMed  Google Scholar 

  13. Piercy R, Sullivan KM, Benson N, Gill P (1993) The application of mitochondrial DNA typing to the study of white Caucasian genetic identification. Int J Legal Med 106:85–90

    PubMed  Google Scholar 

  14. Vigilant L (1990) Control region sequences from African populations and the evolution of human mitochondrial DNA. PhD Thesis, University of California at Berkeley

  15. Torroni A, Schurr TG, Cabell MF, Brown MD, Neel JV, Larsen M, Smith DG, Vullo CM, Wallace DC (1993) Asian affinities and continental radiation of the four founding native American mtDNAs. Am J Hum Genet 53:563–590

    PubMed  Google Scholar 

  16. Ward RH, Frazier BL, Dew-Jager K, Pääbo S (1991) Extensive mitochondrial diversity within a single Amerindian tribe. Proc Natl Acad Sci USA 88:8720–8724

    PubMed  Google Scholar 

  17. Hauswirth WW, Dickel CD, Rowold DJ, Hauswirth MA (1994) Inter- and intrapopulation studies of ancient humans. Experientia 50:585–591

    PubMed  Google Scholar 

  18. Shields GF, Schmiechen AM, Frazier BL, Redd A, Voevoda MI, Reed JK, Ward RH (1993) mtDNA sequences suggest a recent evolutionary divergence for Beringian and northern North American populations. Am J Hum Genet 53:549–562

    PubMed  Google Scholar 

  19. Ginther C, Corach D, Penacino GA, Rey JA, Carnese FR, Hutz MH, Anderson A, Just J, Salzano FM, King MC (1993) Genetic variation among the Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele frequencies of several nuclear genes. In: Pena SDJ, Chakraborty R, Epplen JT, Jeffreys AJ (eds) DNA fingerprinting: state of the science. Birkhauser Verlag, Basel Boston Berlin, pp 211–219

    Google Scholar 

  20. Horai S, Hayasaka K (1990) Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. Am J Hum Genet 46:828–842

    PubMed  Google Scholar 

  21. Santos M, Ward RH, Barrantes R (1994) mtDNA variation in the Chibcha Amerindian Huetar from Costa Rica. Hum Biol 66: 963–977

    PubMed  Google Scholar 

  22. Sajantila A, Lahermo P, Anttinen T, Lukka M, Sistonen P, Savontaus M-L, Aula P, Bechman L, Tranebjaerg L, Gedde-Dahl T, Issel-Tarver L, DiRenzo A, Pdäbo S (1995) Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res 5:42–52

    PubMed  Google Scholar 

  23. Boles TC, Snow CC, Stover E (1995) Forensic DNA testing on skeletal remains from mass graves: a pilot project in Guatemala. J Forensic Sci 40:349–355

    PubMed  Google Scholar 

  24. Mountain JL, Herbert 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

    PubMed  Google Scholar 

  25. Redd AJ, Takezaki N, Sherry ST, McGarvey ST, Sofro ASM, Stoneking M (1995) Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific. Mol Biol Evol 12:604–615

    PubMed  Google Scholar 

  26. Di Rienzo A, Wilson AC (1991) Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc. Natl Acad Sci USA 88:1597–1601

    PubMed  Google Scholar 

  27. Ohno K, Tanaka M, Suzuki H, Obhayashi T, Ikebe S, Ino H, Kumar S, Takahashi A, Ozawa T (1991) Identification of a possible control element, mt5, in the major noncoding region of mitochondrial DNA by intraspecific nucleotide conservation. Biochem Int 24:263–272

    PubMed  Google Scholar 

  28. Batista O, Kolman CJ, Bermingham E (1995) Mitochondrial DNA diversity in the Kuna Amerinds of Panamá. Hum Mol Genet 4:921–929

    PubMed  Google Scholar 

  29. Kolman CJ, Bermingham E, Cooke R, Ward RH, Arias TD, Guionneau SF (1995) Reduced mtDNA diversity in the Ngöbé Amerinds of Panama. Genetics 140:275–283

    PubMed  Google Scholar 

  30. Torroni A, Sukernik RI, Schurr TG, Starikovskaya YB, Cabell MF, Crawford MH, Comuzzle AG, Wallace DC (1993) mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet 53: 591–608

    PubMed  Google Scholar 

  31. Bertranpetit J, Sala J, Calafell F, Underhill PA, Moral P, Comas D (1995) Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet 59:63–81

    PubMed  Google Scholar 

  32. Pult I, Sajantila A, Simonainen J, Georgiev O, Schaffner W, Pääbo S (1994) Mitochondrial DNA sequences from Switzerland reveal striking homogeneity of European populations. Biol Chem 375:837–840

    Google Scholar 

  33. Handt O, Richards M, Trommsdorff M, Kilger C, Simonainen 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 264:1775–1778

    PubMed  Google Scholar 

  34. Monsalve MV, Cardenas F, Guhl F, Delaney AD, Devine DV (1996) Phylogenetic analysis of mtDNA lineages in South American mummies. Ann Hum Genet 60 (in press)

Download references

Author information

Authors and Affiliations

  1. Department of Biological Anthropology, University of Cambridge, Downing Street, CB2 3DZ, Cambridge, UK

    K. W. P. Miller & E. Hagelberg

  2. Literary and Linguistic Computing Centre, University of Cambridge, Sidgwick Avenue, CB3 9DA, Cambridge, UK

    J. L. Dawson

Authors
  1. K. W. P. Miller
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. E. Hagelberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J. L. Dawson
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Miller, K.W.P., Hagelberg, E. & Dawson, J.L. A concordance of nucleotide substitutions in the first and second hypervariable segments of the human mtDNA control region. Int J Leg Med 109, 107–113 (1996). https://doi.org/10.1007/BF01369668

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01369668

Key words

Search

Navigation