mtDNA and the origin of the Icelanders: Deciphering signals of recent population history

American Journal of Human Genetics

Volumn 66, Issue 3, 2000, Pages 999-1016

  Helgason, Agnar ^a   Sigurǒardóttir, Sigrún ^b   Gulcher, Jeffrey R ^b   Ward, Ryk ^a   Stefánsson, Kári ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b DECODE GENETICS   (Iceland)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; EVOLUTION; GENETIC DRIFT; HUMAN; ICELAND; NUCLEOTIDE SEQUENCE; PHYLOGENY; POPULATION GENETICS; PRIORITY JOURNAL; SCANDINAVIA; UNINDEXED SEQUENCE;

EID: 0033941403     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302816     Document Type: Article

References (62)

1. Anderson S, Bankier AT, Barrell BG, Debruijn MHL, Coulson AR, Drouin J, Eperon IC, et al (1981) Sequence and organization of the human mitochondrial genome. Nature 290: 457-465
2. Bandelt HJ, Forster P, Sykes BC, Richards MB (1995) Mitochondrial portraits of human populations using median networks. Genetics 141:743-753
3. Bertorelle G, Excoffier L (1998) Inferring admixture proportions from molecular data. Mol Biol Evol 15:1298-1311
4. 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
5. Brown MD, Hosseini SH, Torroni A, Bandelt HJ, Allen JC, Schurr TG, Scozzari R, et al (1998) mtDNA haplogroup X: an ancient link between Europe/Western Asia and North America? Am J Hum Genet 63:1852-1861
6. Calafell F, Underhill P, Tolun A, Angelicheva D, Kalaydjieva L (1996) From Asia to Europe: mitochondrial-DNA sequence variability in Bulgarians and Turks. Ann Hum Genet 60:35-49
7. Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, Princeton, NJ
8. Chakraborty R (1986) Gene admixture in human populations: models and predictions. Yearbook Phys Anthropol 29:1-43
9. Collins R (1991) Early Medieval Europe 300-1000. Macmillan, London
10. Comas D, Calafell F, Mateu E, Perez-Lezaun A, Bosch E, Martinez-Arias R, Clarimon J, et al (1998) Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations. Am J Hum Genet 63:1824-1838
11. Corte-Real H, Macaulay VA, Richards MB, Hariti G, Issad MS, Cambon-Thomsen A, Papiha S, et al (1996) Genetic diversity in the Iberian peninsula determined from mitochondrial sequence analysis. Ann Hum Genet 60:331-350
12. Delghandi M, Utsi E, Krauss S (1998) Saami mitochondrial DNA reveals deep maternal lineage clusters. Hum Hered 48: 108-114
13. Di Rienzo A, Wilson AC (1991) Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci USA 88:1597-1601
14. Eiken HG, Knappskog PM, Roman H, Thune KS, Kaada G, Motzfeldt K, Apold J (1996) Relative frequency, heterogeneity and geographic clustering of PKU mutations in Norway. Eur J Hum Genet 4:205-213
15. Ewens WJ (1972) The sampling theory of selectively neutral alleles. Theor Popul Biol 3:87-112
16. Excoffier E, Smouse PE, Quattro JM (1992) Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 131:479-491
17. Forster P, Harding R, Torroni A, Bandelt HJ (1996) Origin and evolution of Native American mtDNA variation: a reappraisal. Am J Hum Genet 59:935-945
18. Francalacci P, Bertranpetit J, Calafell F, Underhill PA (1996) Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe. Am J Phys Anthropol 100:443-460
19. Guldberg P, Zschocke J, Dagbjartsson A, Henriksen KF, Guttler F (1997) A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlement. Eur J Hum Genet 5:376-381
20. Handt O, Meyer S, von Haeseler A (1998) Compilation of human mtDNA control region sequences. Nucleic Acids Res 26:126-129
21. Handt O, Richards M, Trommsdorff M, Kilger C, Simanainen J, Georgiev O, Bauer K, et al (1994) Molecular-genetic analyses of the Tyrolean ice man. Science 264: 1775-1778
22. Hasegawa M, Di Rienzo A, Kocher TD, Wilson AC (1993) Toward a more accurate time-scale for the human mitochondrial DNA tree. J Mol Evol 37:347-354
23. Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, Gerbitz KD (1997) Population genetics and disease susceptibility: characterization of central European haplo-groups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 6: 1835-1846
24. Izagirre N, 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 Southwestern Europe. Am J Hum Genet 65:199-207
25. Jazin E, Soodyall H, Jalonen P, Lindholm E, Stoneking M, Gyllensten U (1998) Mitochondrial mutation rate revisited: hot spots and polymorphism. Nat Genet 18:109-110
26. Jones G (1984) A history of the Vikings. Oxford University Press, Oxford, UK
27. Kittles RA, Bergen AW, Urbanek M, Virkkunen M, Linnoila M, Goldman D, Long JC (1999) Autosomal, mitochondrial, and Y chromosome DNA variation in Finland: evidence for a male-specific bottleneck. Am J Phys Anthropol 108: 381-399
28. Lutz S, Weisser HJ, Heizmann J, Pollak S (1998) Location and frequency of polymorphic positions in the mtDNA control region of individuals from Germany. Int J Legal Med 111: 67-77
29. Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, Guida V, Scozzari R, et al (1999) The emerging tree of west Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs. Am J Hum Genet 64:232-249
30. Meyer S, Weiss G, von Haesler A (1999) Pattern of nucleotide substitution and rate heterogeneity in the hypervariable regions I and II of human mtDNA. Genetics 152: 1103-1110
31. Miller KWP, Dawson JL, Hegelberg E (1996) A concordance of nucleotide substitutions in the first and second hypervariable segments of the human mtDNA control region. Int J Legal Med 109:107-113 (see also Mitochondrial DNA Concordance, in Electronic-Database Information above)
32. Opdal SH, Rognum TO, Vege A, Stave AK, Dupuy BM, Egeland T (1998) Increased number of substitutions in the D-loop of mitochondrial DNA in the sudden infant death syndrome. Acta Paediatr 87:1039-1044
33. Orekhov V, Poltoraus A, Zhivotovsky LA, Spitsyn V, Ivanov P, Yankovsky N (1999) Mitochondrial DNA sequence diversity in Russians. FEBS Letters 445:197-201
34. Parson W, Parsons TJ, Scheithauer R, Holland MM (1998) Population data for 101 Austrian Caucasian mitochondrial DNA d-loop sequences: application of mtDNA sequence analysis to a forensic case. Int J Legal Med 111:124-132
35. Parsons TJ, Muniec DS, Sullivan K, Woodyatt N, Alliston-Greiner R, Wilson MR, Berry DL, et al (1997) A high observed substitution rate in the human mitochondrial DNA control region. Nat Genet 15:363-368
36. Pfeiffer H, Brinkmann B, Huhne J, Rolf B, Morris AA, Steighner R, Holland MM, et al (1999) Expanding the forensic German mitochondrial DNA control region database: genetic diversity as a function of sample size and microgeography. Int J Legal Med 112: 291-298
37. 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
38. Pinto F, Gonzalez AM, Hernandez M, Larruga JM, Cabrera VM (1996) Genetic relationship between the Canary Islanders and their African and Spanish ancestors inferred from mitochondrial DNA sequences. Ann Hum Genet 60: 321-330
39. Pult I, Sajantila A, Simanainen J, Georgiev O, Schaffner W, Paabo S (1994) Mitochondrial DNA sequences from Switzerland reveal striking homogeneity of European populations. Biol Chem Hoppe-Seyler 375:837-840
40. Richards MB, Corte-Real H, Forster P, Macaulay V, Wilkinson-Herbots H, Demaine A, Papiha S, et al (1996) Paleolithic and neolithic lineages in the European mitochondrial gene pool. Am J Hum Genet 59:185-203
41. Richards MB, Macaulay VA, Bandelt HJ, Sykes BC (1998) Phylogeography of mitochondrial DNA in western Europe. Ann Hum Genet 62:241-260
42. Rogers AR, Harpending H (1992) Population growth makes waves in the distribution of pairwise genetic differences. Mol Biol Evol 9:552-569
43. Röhl A ( 1997) Network 2.0: a program package for calculating phylogenetic networks. Mathematisches Seminar, University of Hamburg, Hamburg, Germany
44. Rousselet F, Mangin P (1998) Mitochondrial DNA polymorphisms: a study of 50 French Caucasian individuals and application to forensic casework. Int J Legal Med 111: 292-298
45. Sajantila A, Lahermo P, Anttinen T, Lukka M, Sistonen P, Savontaus ML, Aula P, et al (1995) Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res 5:42-52
46. Sajantila A, Salem AH, Savolainen P, Bauer K, Gierig C, Paabo S (1996) Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population. Proc Natl Acad Sci USA 93:12035-12039
47. Salas A, Comas D, Lareu MV, Bertranpetit J, Carracedo A (1998) mtDNA analysis of the Galician population: a genetic edge of European variation. Eur J Hum Genet 6:365-375
48. Schneider, S, Kueffer JM, Roessli D, Excoffier L (1997) ARLEQUIN 1.1: software for population genetics data analysis. Genetics and Biometry Laboratory, University of Geneva, Switzerland
49. Schurr TG, Sukernik RI, Starikovskaya YB, Wallace DC (1999) Mitochondrial DNA variation in Koryaks and Itel'men: population replacement in the Okhotsk Sea Bering Sea region during the Neolithic. Am J Phys Anthropol 108:1-39
50. Smith, KP (1995) Landnám: the settlement of Iceland in archaeological and historical perspective. World Archaeol 26: 319-347
51. Steffensen, J (1975) Menning og meinsemdir: Ritgerǒarsafn urn mótunarsögu íslenskrar pjóǒar og baráttu hennar viǒ hungur og sóttir, Ísafoldarprentsmiǒja, Reykjavík, Iceland
52. Sykes B (1999) The molecular genetics of European ancestry. Philos Trans R Soc Lond B Biol Sci 354:131-138
53. Tyfield LA, Stephenson A, Cockburn F, Harvie A, Bidwell JL, Wood NAP, Pilz DT, et al (1997) Sequence variation at the phenylalanine hydroxylase gene in the British Isles. Am J Hum Genet 60:388-396
54. Thompson EA (1973) The Icelandic admixture problem. Ann Hum Genet 37:69-80
55. Tills D, Warlow A, Kopec AC, Friǒriksson S, Mourant AE (1982) The blood groups and other hereditary blood factors of the Icelanders. Ann Hum Biol 9:507-520
56. Torroni A, Bandelt HJ, Durbano L, Lahermo P, Moral P, Sellitto D, Rengo C, et al (1998) mtDNA analysis reveals a major late paleolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet 62: 1137-1152
57. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, et al (1996) Classification of European mtDNAs from an analysis three European populations. Genetics 144:1835-1850
58. Vasey DE (1996) Population regulation, ecology, and political economy in preindustrial Iceland. Am Ethnologist 23: 366-92
59. Wakeley J (1993) Substitution rate variation among sites in hypervariable region 1 of human mitochondrial DNA. J Mol Evol 37: 613-623
60. Ward RH, Redd A, Valencia D, Frazier B, Paabo S (1993) Genetic and linguistic differentiation in the Americas. Proc Nad Acad Sci USA 90:10663-10667
61. Wijsman EM (1984) Techniques for estimating genetic admixture and applications to the problem of the origin of the Icelanders and the Ashkenazi Jews. Hum Genet 67:441-448
62. Zschocke J, Mallory JP, Eiken HG, Nevin NC (1997) Phenylketonuria and the peoples of Northern Ireland. Hum Genet 100:189-194