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. 1998 Jan 1;26(1):126–129. doi: 10.1093/nar/26.1.126

Compilation of human mtDNA control region sequences.

O Handt 1, S Meyer 1, A von Haeseler 1
PMCID: PMC147248  PMID: 9399816

Abstract

This paper describes the organisation of a database for human mitochondrial control-region sequences. The data are divided into three ASCII files that contain aligned sequences from the hypervariable region I (HVRI), from the hypervariable region II (HVRII), and the available information about the individuals, from whom the sequences stem. The current collection comprises 4079 HVRI and 969 HVRII sequences. From 728 individuals sequences of both HVRI and HVRII are available. For easy access, the collection is made available to the scientific community via World Wide Web at URL http://www.zi.biologie.uni-muenchen.de/[symbol: see text]meyers/mtdna.html

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Selected References

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  1. Anderson S., Bankier A. T., Barrell B. G., de Bruijn M. H., Coulson A. R., Drouin J., Eperon I. C., Nierlich D. P., Roe B. A., Sanger F. Sequence and organization of the human mitochondrial genome. Nature. 1981 Apr 9;290(5806):457–465. doi: 10.1038/290457a0. [DOI] [PubMed] [Google Scholar]
  2. Batista O., Kolman C. J., Bermingham E. Mitochondrial DNA diversity in the Kuna Amerinds of Panamá. Hum Mol Genet. 1995 May;4(5):921–929. doi: 10.1093/hmg/4.5.921. [DOI] [PubMed] [Google Scholar]
  3. Benson D. A., Boguski M. S., Lipman D. J., Ostell J. GenBank. Nucleic Acids Res. 1997 Jan 1;25(1):1–6. doi: 10.1093/nar/25.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Bertranpetit J., Sala J., Calafell F., Underhill P. A., Moral P., Comas D. Human mitochondrial DNA variation and the origin of Basques. Ann Hum Genet. 1995 Jan;59(Pt 1):63–81. doi: 10.1111/j.1469-1809.1995.tb01606.x. [DOI] [PubMed] [Google Scholar]
  5. Betty D. J., Chin-Atkins A. N., Croft L., Sraml M., Easteal S. Multiple independent origins of the COII/tRNA(Lys) intergenic 9-bp mtDNA deletion in aboriginal Australians. Am J Hum Genet. 1996 Feb;58(2):428–433. [PMC free article] [PubMed] [Google Scholar]
  6. Bowcock A. M., Ruiz-Linares A., Tomfohrde J., Minch E., Kidd J. R., Cavalli-Sforza L. L. High resolution of human evolutionary trees with polymorphic microsatellites. Nature. 1994 Mar 31;368(6470):455–457. doi: 10.1038/368455a0. [DOI] [PubMed] [Google Scholar]
  7. Comas D., Calafell F., Mateu E., Pérez-Lezaun A., Bertranpetit J. Geographic variation in human mitochondrial DNA control region sequence: the population history of Turkey and its relationship to the European populations. Mol Biol Evol. 1996 Oct;13(8):1067–1077. doi: 10.1093/oxfordjournals.molbev.a025669. [DOI] [PubMed] [Google Scholar]
  8. Côrte-Real H. B., Macaulay V. A., Richards M. B., Hariti G., Issad M. S., Cambon-Thomsen A., Papiha S., Bertranpetit J., Sykes B. C. Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis. Ann Hum Genet. 1996 Jul;60(Pt 4):331–350. doi: 10.1111/j.1469-1809.1996.tb01196.x. [DOI] [PubMed] [Google Scholar]
  9. Deka R., Jin L., Shriver M. D., Yu L. M., DeCroo S., Hundrieser J., Bunker C. H., Ferrell R. E., Chakraborty R. Population genetics of dinucleotide (dC-dA)n.(dG-dT)n polymorphisms in world populations. Am J Hum Genet. 1995 Feb;56(2):461–474. [PMC free article] [PubMed] [Google Scholar]
  10. Di Rienzo A., Wilson A. C. Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci U S A. 1991 Mar 1;88(5):1597–1601. doi: 10.1073/pnas.88.5.1597. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Easton R. D., Merriwether D. A., Crews D. E., Ferrell R. E. 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] [Google Scholar]
  12. Francalacci P., Bertranpetit J., Calafell F., Underhill P. A. Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe. Am J Phys Anthropol. 1996 Aug;100(4):443–460. doi: 10.1002/(SICI)1096-8644(199608)100:4<443::AID-AJPA1>3.0.CO;2-S. [DOI] [PubMed] [Google Scholar]
  13. Ginther C., Corach D., Penacino G. A., Rey J. A., Carnese F. R., Hutz M. H., Anderson A., Just J., Salzano F. M., King M. C. 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. doi: 10.1007/978-3-0348-8583-6_17. [DOI] [PubMed] [Google Scholar]
  14. 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. doi: 10.1093/oxfordjournals.molbev.a040206. [DOI] [PubMed] [Google Scholar]
  15. Handt O., Richards M., Trommsdorff M., Kilger C., Simanainen J., Georgiev O., Bauer K., Stone A., Hedges R., Schaffner W. Molecular genetic analyses of the Tyrolean Ice Man. Science. 1994 Jun 17;264(5166):1775–1778. doi: 10.1126/science.8209259. [DOI] [PubMed] [Google Scholar]
  16. Horai S., Hayasaka K. Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA. Am J Hum Genet. 1990 Apr;46(4):828–842. [PMC free article] [PubMed] [Google Scholar]
  17. 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. doi: 10.1093/oxfordjournals.molbev.a039987. [DOI] [PubMed] [Google Scholar]
  18. Jorde L. B., Bamshad M. J., Watkins W. S., Zenger R., Fraley A. E., Krakowiak P. A., Carpenter K. D., Soodyall H., Jenkins T., Rogers A. R. Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data. Am J Hum Genet. 1995 Sep;57(3):523–538. doi: 10.1002/ajmg.1320570340. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Kogelnik A. M., Lott M. T., Brown M. D., Navathe S. B., Wallace D. C. MITOMAP: an update on the status of the human mitochondrial genome database. Nucleic Acids Res. 1997 Jan 1;25(1):196–199. doi: 10.1093/nar/25.1.196. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Kolman C. J., Bermingham E., Cooke R., Ward R. H., Arias T. D., Guionneau-Sinclair F. Reduced mtDNA diversity in the Ngöbé Amerinds of Panamá. Genetics. 1995 May;140(1):275–283. doi: 10.1093/genetics/140.1.275. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Kolman C. J., 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. doi: 10.1093/genetics/142.4.1321. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Lum J. K., Rickards O., Ching C., Cann R. L. Polynesian mitochondrial DNAs reveal three deep maternal lineage clusters. Hum Biol. 1994 Aug;66(4):567–590. [PubMed] [Google Scholar]
  23. Morin P. A., Moore J. J., Chakraborty R., Jin L., Goodall J., Woodruff D. S. Kin selection, social structure, gene flow, and the evolution of chimpanzees. Science. 1994 Aug 26;265(5176):1193–1201. doi: 10.1126/science.7915048. [DOI] [PubMed] [Google Scholar]
  24. Mountain J. L., Hebert J. M., Bhattacharyya S., Underhill P. A., Ottolenghi C., Gadgil M., Cavalli-Sforza L. L. Demographic history of India and mtDNA-sequence diversity. Am J Hum Genet. 1995 Apr;56(4):979–992. [PMC free article] [PubMed] [Google Scholar]
  25. Piercy R., Sullivan K. M., 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. doi: 10.1007/BF01225046. [DOI] [PubMed] [Google Scholar]
  26. Pinto F., González A. M., Hernández M., Larruga J. M., Cabrera V. M. Genetic relationship between the Canary Islanders and their African and Spanish ancestors inferred from mitochondrial DNA sequences. Ann Hum Genet. 1996 Jul;60(Pt 4):321–330. doi: 10.1111/j.1469-1809.1996.tb01195.x. [DOI] [PubMed] [Google Scholar]
  27. Pult I., Sajantila A., Simanainen J., Georgiev O., Schaffner W., Päbo S. Mitochondrial DNA sequences from Switzerland reveal striking homogeneity of European populations. Biol Chem Hoppe Seyler. 1994 Dec;375(12):837–840. [PubMed] [Google Scholar]
  28. Redd A. J., Takezaki N., Sherry S. T., McGarvey S. T., Sofro A. S., 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. doi: 10.1093/oxfordjournals.molbev.a040240. [DOI] [PubMed] [Google Scholar]
  29. Sajantila A., Lahermo P., Anttinen T., Lukka M., Sistonen P., Savontaus M. L., Aula P., Beckman L., Tranebjaerg L., Gedde-Dahl T. Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res. 1995 Aug;5(1):42–52. doi: 10.1101/gr.5.1.42. [DOI] [PubMed] [Google Scholar]
  30. Santos M., Ward R. H., Barrantes R. mtDNA variation in the Chibcha Amerindian Huetar from Costa Rica. Hum Biol. 1994 Dec;66(6):963–977. [PubMed] [Google Scholar]
  31. Santos S. E., Ribeiro-Dos-Santos A. K., Meyer D., Zago M. A. Multiple founder haplotypes of mitochondrial DNA in Amerindians revealed by RFLP and sequencing. Ann Hum Genet. 1996 Jul;60(Pt 4):305–319. doi: 10.1111/j.1469-1809.1996.tb01194.x. [DOI] [PubMed] [Google Scholar]
  32. Stenico M., Nigro L., Bertorelle G., Calafell F., Capitanio M., Corrain C., Barbujani G. High mitochondrial sequence diversity in linguistic isolates of the Alps. Am J Hum Genet. 1996 Dec;59(6):1363–1375. [PMC free article] [PubMed] [Google Scholar]
  33. Sykes B., Leiboff A., Low-Beer J., Tetzner S., Richards M. The origins of the Polynesians: an interpretation from mitochondrial lineage analysis. Am J Hum Genet. 1995 Dec;57(6):1463–1475. [PMC free article] [PubMed] [Google Scholar]
  34. Torroni A., Schurr T. G., Cabell M. F., Brown M. D., Neel J. V., Larsen M., Smith D. G., Vullo C. M., Wallace D. C. 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] [Google Scholar]
  35. Torroni A., Sukernik R. I., Schurr T. G., Starikorskaya Y. B., Cabell M. F., Crawford M. H., Comuzzie A. G., Wallace D. C. 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] [Google Scholar]
  36. Vigilant L., Stoneking M., Harpending H., Hawkes K., Wilson A. C. African populations and the evolution of human mitochondrial DNA. Science. 1991 Sep 27;253(5027):1503–1507. doi: 10.1126/science.1840702. [DOI] [PubMed] [Google Scholar]
  37. Ward R. H., Frazier B. L., 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. doi: 10.1073/pnas.88.19.8720. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. Ward R. H., 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. doi: 10.1073/pnas.90.22.10663. [DOI] [PMC free article] [PubMed] [Google Scholar]
  39. Watson E., Bauer K., Aman R., Weiss G., von Haeseler A., Päbo S. mtDNA sequence diversity in Africa. Am J Hum Genet. 1996 Aug;59(2):437–444. [PMC free article] [PubMed] [Google Scholar]
  40. Wise C. A., Sraml M., Rubinsztein D. C., Easteal S. Comparative nuclear and mitochondrial genome diversity in humans and chimpanzees. Mol Biol Evol. 1997 Jul;14(7):707–716. doi: 10.1093/oxfordjournals.molbev.a025810. [DOI] [PubMed] [Google Scholar]
  41. Wrischnik L. A., Higuchi R. G., Stoneking M., Erlich H. A., Arnheim N., Wilson A. C. Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA. Nucleic Acids Res. 1987 Jan 26;15(2):529–542. doi: 10.1093/nar/15.2.529. [DOI] [PMC free article] [PubMed] [Google Scholar]
  42. von Haeseler A., Sajantila A., Päbo S. The genetical archaeology of the human genome. Nat Genet. 1996 Oct;14(2):135–140. doi: 10.1038/ng1096-135. [DOI] [PubMed] [Google Scholar]

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