International Journal of Legal Medicine

, Volume 120, Issue 5, pp 271–281 | Cite as

Mitochondrial DNA sequence variation in Jewish populations

  • A. Picornell
  • P. Giménez
  • J. A. Castro
  • M. M. Ramon
Original Article

Abstract

Sequence analysis of HVRI and HVRII mitochondrial DNA was carried out on 107 Jewish samples from Ashkenazi, Oriental, North African, and Sephardic origins. Control region sequences were assigned to a haplogroup by means of the analysis of the RFLP motif -7025 AluI or by using sequence motifs. A total of 88 different haplotypes were observed with a lower incidence of unique haplotypes (68.2%) than in other populations. Four individuals with one position of sequence heteroplasmy at nucleotides 16093, 16134, 16169, and 235, respectively, were detected. The mean pairwise difference in the Jewish population was 9.7 nucleotides. The gene diversity was 0.996, and the random match probability was 1.3%. When the data were compared with the autosomal and Y-chromosome markers previously studied in these populations, sex-specific differences could be observed in the Jewish populations. This fact must be taken into account for choosing suitable databases to correctly weigh the value of the evidence of a mtDNA and/or Y profile match.

Keywords

mtDNA HVRI HVRII Haplogroups Jewish populations 

Notes

Acknowledgements

This work was supported by grant PM97-0041 from the Dirección General de Enseñanza Superior (Spain) and by grants PRDIB-2002-GC3-15 and PRDT-2003-12099 from the Direcció General de Recerca, Desenvolupament Tecnològic i Innovació (Comunitat Autònoma de les Illes Balears). We thank Dr. Lourdes Prieto for her helpful technical assistance.

Supplementary material

414_2006_83_MOESM1_ESM.zip (14.3 mb)
HVR I (ZIP 15 mb)
414_2006_83_MOESM2_ESM.zip (15.9 mb)
HVR II (ZIP 17 mb)

References

  1. 1.
    Behar DM, Garrigan D, Kaplan ME, Mobasher Z, Rosengarten D, Karafet TM, Quintana-Murci L, Ostrer H, Skorecki K, Hammer MF (2004a) Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations. Hum Genet 114(4):354–365PubMedCrossRefGoogle Scholar
  2. 2.
    Behar DM, Hammer MF, Garrigan D, Villems R, Bonne-Tamir B, Richards M, Gurwitz D, Rosengarten D, Kaplan M, Della Pergola S, Quintana-Murci L, Skorecki K (2004b) MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population. Eur J Hum Genet 12(5):355–364PubMedCrossRefGoogle Scholar
  3. 3.
    Bendall KE, Sykes BC (1995) Length heteroplasmy in the first hypervariable segment of the human mtDNA control region. Am J Hum Genet 57:248–256PubMedGoogle Scholar
  4. 4.
    Bendall KE, Macaulay VA, Sykes BC (1997) Variable levels of a heteroplasmic point mutation in individual hair roots. Am J Hum Genet 61:1303–1308PubMedCrossRefGoogle Scholar
  5. 5.
    Ben-Sasson H (1976) A history of the Jewish people. Harvard Univ. Press, CambridgeGoogle Scholar
  6. 6.
    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 59:63–81PubMedCrossRefGoogle Scholar
  7. 7.
    Bonné-Tamir BS, Ashbel S, Kenett R (1979) Genetic markers: Benign and normal traits of Ashkenazi Jews. In: RM Goodman, AG Motulsky (eds) Genetic diseases among Ashkenazi Jews. Raven, New York, pp 59–76Google Scholar
  8. 8.
    Bonné-Tamir B, Zoossmann-Diskin A, Ticher A (1992) Genetic diversity among Jews reexamined: preliminary analyses at the DNA level. In: Bonné-Tamir B, Adam A (eds) Genetic diversity among Jews: diseases and markers at the DNA level. Oxford Univ. Press, Oxford, pp 80–94Google Scholar
  9. 9.
    Bosch E, Calafell F, Comas D, Oefner PJ, Underhill PA, Bertranpetit J (2001) 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 68:1019–1029PubMedCrossRefGoogle Scholar
  10. 10.
    Brakez Z, Bosch E, Izaabel H, Akhayat O, Comas D, Bertranpetit J, Calafell F (2001) Human mitochondrial DNA sequence variation in the Moroccan population of the Souss area. Ann Hum Biol 28:295–307PubMedCrossRefGoogle Scholar
  11. 11.
    Brandstätter A, Parsons TJ, Parson W (2003) Rapid screening of mtDNA coding region SNPs for the identification of west European Caucasian haplogroups. Int J Legal Med 117:291–298PubMedCrossRefGoogle Scholar
  12. 12.
    Bright J (1981) A history of Israel, 3rd edn. Westminster, PhiladelphiaGoogle Scholar
  13. 13.
    Brinkmann C, Forster P, Schürenkamp M, Horst J, Rolf B, Brinkmann B (1999) Human Y-chromosomal STR haplotypes in a Kurdish population sample. Int J Legal Med 112:181–183PubMedCrossRefGoogle Scholar
  14. 14.
    Budowle B, Wilson MR, DiZinno JA, Stauffer C, Fasano MA, Holland MM, Monson KL (1999) Mitochondrial DNA regions HVI and HVII population data. Forensic Sci Int 103:23–35PubMedCrossRefGoogle Scholar
  15. 15.
    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 60:35–49PubMedCrossRefGoogle Scholar
  16. 16.
    Cali F, Le Roux MG, D’Anna R, Flugy A, De Leo G, Chiavetta V, Ayala GF, Romano V (2001) MtDNA control region and RFLP data for Sicily and France. Int J Legal Med 114:229–231PubMedCrossRefGoogle Scholar
  17. 17.
    Cann RL, Stoneking M, Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 325:31–36PubMedCrossRefGoogle Scholar
  18. 18.
    Crespillo M, Luque JA, Paredes M, Fernández R, Ramírez E, Valverde JL (2000) Mitochondrial DNA sequences for 118 individuals from northeastern Spain. Int J Legal Med 114:130–152PubMedCrossRefGoogle Scholar
  19. 19.
    DiRienzo A, Wilson AC (1991) Branching pattern in the evolutionary tree for human mitochondrial DNA. Proc Natl Acad Sci U S A 88:1597–1601CrossRefGoogle Scholar
  20. 20.
    Felsenstein J (2001) PHYLIP (Phylogeny inference package), ver. 3.6. Department of Genetics, University of Washington, Seattle (distributed by the author)Google Scholar
  21. 21.
    Forster P, Cali F, Röhl A, Metspalu E, D’Anna R, Mirisola M, De Leo G, Flugy A, Salerno A, Ayala G, Kouvatsi A, Villems R, Romano V (2002) Continental and subcontinental distributions of mtDNA control region types. Int J Legal Med 116:99–108PubMedCrossRefGoogle Scholar
  22. 22.
    Gené M, Borrego N, Xifró A, Piqué E, Moreno P, Huguet E (1999) Haplotype frequencies of eight Y-chromosome STR loci in Barcelona (North-east Spain). Int J Legal Med 112:403–405PubMedCrossRefGoogle Scholar
  23. 23.
    Giles RE, Blanc H, Cann HM, Wallace DC (1980) Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A 77:6715–6719PubMedCrossRefGoogle Scholar
  24. 24.
    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 6:130–135PubMedCrossRefGoogle Scholar
  25. 25.
    Ginther C, Issel-Tarver L, King MC (1992) Identifying individuals by sequencing mitochondrial DNA from teeth. Nat Genet 6:130–135Google Scholar
  26. 26.
    González-Neira A, Gusmao L, Brión M, Lareu MV, Amorim A, Carracedo A (2000) Distribution of Y-chromosome STR defined haplotypes in Iberia. Forensic Sci Int 110:117–126PubMedCrossRefGoogle Scholar
  27. 27.
    Goodman RM (1979) A perspective on genetic diseases among the Jewish people. In: Goodman RM, Motulsky AG (eds) Genetic diseases among Ashkenazi Jews. Raven, New York, pp 1–17Google Scholar
  28. 28.
    Hammer MF, Redd AJ, Wood ET, Bonner MR, Jarjanazi H, Karafet T, Santachiara-Benerecetti S, Oppenheim A, Jobling MA, Jenkins T, Ostrer H, Bonné-Tamir B (2000) Jewish and middle eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes. Proc Natl Acad Sci U S A 97:6769–6774PubMedCrossRefGoogle Scholar
  29. 29.
    Hidding M, Schmitt C (2000) Haplotype frequencies and population data of nine Y-chromosomal STR polymorphisms in a German and a Chinese population. Forensic Sci Int 113:47–53PubMedCrossRefGoogle Scholar
  30. 30.
    Hu YQ, Fung WK (2003) Evaluating forensic DNA mixtures with contributors of different structured ethnic origins: a computer software. Int J Legal Med 117:248–249PubMedCrossRefGoogle Scholar
  31. 31.
    Hühne J, Pfeiffer H, Brinkmann B (1998) Heteroplasmic substitution in the mitochondrial DNA control region in mother and child samples. Int J Legal Med 112:27–30CrossRefGoogle Scholar
  32. 32.
    Jiménez G, Picornell A, Tomàs C, Castro JA, Ramon MM (2001) Y-chromosome polymorphism data in Majorcan, Minorcan and Valencian populations (Eastern Spain). Forensic Sci Int 124:231–234PubMedCrossRefGoogle Scholar
  33. 33.
    Jiménez G, Picornell A, Castro JA, Ramon MM (2003) Allele frequencies of Y-chromosome STR loci DYS385 and DYS392 in three Eastern Spanish populations. J Forensic Sci 48(4):898–900PubMedGoogle Scholar
  34. 34.
    Karlin S, Kenett R, Bonné-Tamir B (1979) Analysis of biochemical genetic data on Jewish populations. II. Results and interpretations of heterogeneity indices and distance measures with respect to standards. Am J Hum Genet 31:341–365PubMedGoogle Scholar
  35. 35.
    Kobyliansky E, Micle S, Goldschmidt-Nathan M, Arensburg B, Nathan H (1982) Jewish populations of the world: genetic likeness and differences. Ann Hum Biol 9:1–34PubMedCrossRefGoogle Scholar
  36. 36.
    Krings M, Stone A, Schmitz RW, Krainitzki H, Stoneking M, Pääbo S (1997) Neanderthal DNA sequences and the origin of modern humans. Cell 90:19–30PubMedCrossRefGoogle Scholar
  37. 37.
    Livshits G, Sokal RR, Kobyliansky E (1991) Genetic affinities of Jewish populations. Am J Hum Genet 49:131–146PubMedGoogle Scholar
  38. 38.
    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 111:67–77PubMedCrossRefGoogle Scholar
  39. 39.
    Marchington DR, Hartshorne GM, Barlow D, Poulton J (1997) Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. Am J Hum Genet 60:408–416PubMedGoogle Scholar
  40. 40.
    Morton NE, Yee S, Lew R (1982) Bioassay of kinship in populations of Middle Eastern origin and controls. Curr Anthropol 23:157–167CrossRefGoogle Scholar
  41. 41.
    Mourant AE, Kopec AC, Domaniewska-Sobczak K (1978) The genetics of the Jews. Clarendon, OxfordGoogle Scholar
  42. 42.
    Nebel A, Filon D, Brinkmann B, Majumder PP, Faerman M, Oppenheim A (2001) The Y chromosome pool of Jews as part of the genetic landscape of the Middle East. Am J Hum Genet 69:1095–1112PubMedCrossRefGoogle Scholar
  43. 43.
    Olze A, Schmeling A, Taniguchi M, Maeda H, van Niekerk P, Wernecke KD, Geserick G (2004) Forensic age estimation in living subjects: the ethnic factor in wisdom tooth mineralization. Int J Legal Med 118:170–173PubMedCrossRefGoogle Scholar
  44. 44.
    Pääbo S, Gifford JA, Wilson AC (1998) Mitochondrial DNA sequences from a 7000-year-old brain. Nucleic Acids Res 16:9775–9778CrossRefGoogle Scholar
  45. 45.
    Parsons TJ, Muniec DS, Sullivan K, Woodyatt N, Alliston-Greiner R, Wilson MR, Berry DL, Holland KA, Weedn VW, Gill P, Holland MM (1997) A high observed substitution rate in the human mitochondrial DNA control region. Nat Genet 15:363–368PubMedCrossRefGoogle Scholar
  46. 46.
    Patai R, Patai-Wing J (1975) The myth of the Jewish race. Charles Scribner’s Sons, New YorkGoogle Scholar
  47. 47.
    Picornell A, Tomàs C, Jiménez G, Castro JA, Ramon MM (2002) Jewish population genetic data in 20 polymorphic loci. Forensic Sci Int 125:52–58PubMedCrossRefGoogle Scholar
  48. 48.
    Picornell A, Gómez-Barbeito L, Tomàs C, Castro JA, Ramon MM (2005) Mitochondrial DNA HVRI variation in Balearic populations. Am J Phys Anthropol 128:119–130Google Scholar
  49. 49.
    Picornell A, Jiménez G, Castro JA, Ramon MM (2004) Minimal Y-chromosome haplotypes plus DYS287 in Jewish populations. J Forensic Sci 49(2):410–412PubMedCrossRefGoogle Scholar
  50. 50.
    Poetsch M, Wittig H, Krause D, Lignitz E (2004) Corrigendum to “Mitochondrial diversity of a northeast German population sample”. Forensic Sci Int 145(1):73–77Google Scholar
  51. 51.
    Reynolds J, Weir BS, Cockerham CC (1983) Estimation of the coancestry coefficient: basis for a short term genetic distance. Genetics 105:767–779PubMedGoogle Scholar
  52. 52.
    Ricci U, Sani I, Giovannucci-Uzielli ML (2001) Y-chromosomal STR haplotype in Toscany (central Italy). Forensic Sci Int 120:210–212PubMedCrossRefGoogle Scholar
  53. 53.
    Richards MB, Macaulay VA, Bandelt HJ, Sykes BC (1998) Phylogeography of mitochondrial DNA in western Europe. Ann Hum Genet 62:241–260PubMedCrossRefGoogle Scholar
  54. 54.
    Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V et al (2000) Tracing European founder lineages in the Near eastern mtDNA pool. Am J Hum Genet 67:1251–1276PubMedGoogle Scholar
  55. 55.
    Richards M, Macaulay V, Torroni A, Bandelt HJ (2002) In search of geographic patterns in European mitochondrial DNA. Am J Hum Genet 71:1168–1174PubMedCrossRefGoogle Scholar
  56. 56.
    Ritte U, Neufeld E, Broit M, Shavit D, Motro U (1993a) The differences among Jewish communities-maternal and paternal contributions. J Mol Evol 37:435–440PubMedCrossRefGoogle Scholar
  57. 57.
    Ritte U, Neufeld E, Prager EM, Gross M, Hakim I, Khatib A, Bonné-Tamir B (1993b) Mitochondrial DNA affinities of several Jewish communities. Hum Biol 65(3):359–385PubMedGoogle Scholar
  58. 58.
    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 6:365–375PubMedCrossRefGoogle Scholar
  59. 59.
    Schneider S, Roessli D, Excoffier L (2000) ARLEQUIN, ver. 2000. A software for population genetics data analysis. Genetics and Biometry Laboratory. University of Geneva, SwitzerlandGoogle Scholar
  60. 60.
    Tagliabracci A, Turchi C, Buscemi L, Sassaroli C (2001) Polymorphism of the mitochondrial DNA control region in Italians. Int J Legal Med 114:224–228PubMedCrossRefGoogle Scholar
  61. 61.
    Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585–595PubMedGoogle Scholar
  62. 62.
    Thomas MG, Weale ME, Jones AL, Richards M, Smith A, Redhead N, Torroni A, Scozzari R, Gratrix F, Tarekegn A, Wilson JF, Capelli C, Bradman N, Goldstein DB (2002) Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors. Am J Hum Genet 70:1411–1420PubMedCrossRefGoogle Scholar
  63. 63.
    Tikochinski Y, Ritte U, Gross SR, Prager EM, Wilson AC (1991) mtDNA polymorphism in two communities of Jews. Am J Hum Genet 48:129–136PubMedGoogle Scholar
  64. 64.
    Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, Savontaus ML, Wallace DC (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics 144:1835–1850PubMedGoogle Scholar
  65. 65.
    Torroni A, Bandelt HJ, D’Urbano L, Lahermo P, Moral P, Sellitto D, Rengo C, Forster P, Savontaus ML, Bonne-Tamir B, Scozzari R (1998) MtDNA analysis reveals a major late Palaeolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet 62:1137–1152PubMedCrossRefGoogle Scholar
  66. 66.
    Vanecek T, Vorel F, Sip M (2004) Mitochondrial DNA D-loop hypervariable regions: Czech population data. Int J Legal Med 118(1):14–18PubMedCrossRefGoogle Scholar
  67. 67.
    Varesi L, Menni M, Cristofari MC, Mameli GE, Calo CM, Vona G (2000) Mitochondrial control-region sequence variation in the Corsican population, France. Am J Human Biol 12:339–351CrossRefGoogle Scholar
  68. 68.
    Zupanič Pajnič I, Balazic J, Komel R (2004) Sequence polymorphism of the mitochondrial DNA control region in the Slovenian population. Int J Legal Med 118(1):1–4PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • A. Picornell
    • 1
  • P. Giménez
    • 1
  • J. A. Castro
    • 1
  • M. M. Ramon
    • 1
  1. 1.Institut Universitari d’Investigacions en Ciències de la Salut (IUNICS) i Laboratori de Genètica, Departament de BiologiaUniversitat de les Illes BalearsPalma de MallorcaSpain

Personalised recommendations