International Journal of Legal Medicine

, Volume 124, Issue 3, pp 195–204 | Cite as

The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns

  • Jodi A. Irwin
  • Abror Ikramov
  • Jessica Saunier
  • Martin Bodner
  • Sylvain Amory
  • Alexander Röck
  • Jennifer O’Callaghan
  • Abdurakhmon Nuritdinov
  • Sattar Atakhodjaev
  • Rustam Mukhamedov
  • Walther Parson
  • Thomas J. Parsons
ORIGINAL ARTICLE

Abstract

In order to better characterize and understand the mtDNA population genetics of Central Asia, the mtDNA control regions of over 1,500 individuals from Uzbekistan have been sequenced. Although all samples were obtained from individuals residing in Uzbekistan, individuals with direct ancestry from neighboring Central Asian countries are included. Individuals of Uzbek ancestry represent five distinct geographic regions of Uzbekistan: Fergana, Karakalpakstan, Khorezm, Qashkadarya, and Tashkent. Individuals with direct ancestry in nearby countries originate from Kazakhstan, Kyrgyzstan, Russia, Afghanistan, Turkmenistan, and Tajikistan. Our data reinforce the evidence of distinct clinal patterns that have been described among Central Asian populations with classical, mtDNA, and Y-chromosomal markers. Our data also reveal hallmarks of recent demographic events. Despite their current close geographic proximity, the populations with ancestry in neighboring countries show little sign of admixture and retain the primary mtDNA patterns of their source populations. The genetic distances and haplogroup distributions among the ethnic populations are more indicative of a broad east–west cline among their source populations than of their relatively small geographic distances from one another in Uzbekistan. Given the significant mtDNA heterogeneity detected, our results emphasize the need for heightened caution in the forensic interpretation of mtDNA data in regions as historically rich and genetically diverse as Central Asia.

Keywords

mtDNA population data Central Asia Forensics Control region Coding region SNPs 

Supplementary material

414_2009_406_MOESM1_ESM.pdf (555 kb)
Supplementary Table 1MtDNA haplotypes from 1,575 individuals residing in Uzbekistan, listed as differences from the rCRS. Haplotypes are preceded by a header line (denoted with a #! symbol) which specifies the sites assayed for a given set of samples. In all cases, the entire control region was sequenced. Samples are labeled according to: AFG (Afghanistan), KYR (Kyrgyzstan), KAZ (Kazakhstan), RUS (Russia), TAJ (Tajikistan), TUR (Turkmenistan), FER (Uzbekistan–Fergana), KAR (Uzbekistan–Karakalpakstan), QAS (Uzbekistan–Qashkadarya), TAS (Uzbekitan–Tashkent), XOR (Uzbekistan–Khorezm) (PDF 339 kb)
414_2009_406_MOESM2_ESM.doc (148 kb)
Supplementary Table 2Фst values for regional subpopulations of Uzbekistan with Uzbek ancestry. Values are not significant at the 0.05 level after Bonferroni correction. (DOC 148 kb)
414_2009_406_MOESM3_ESM.docx (12 kb)
Supplementary Table 3Фst values for ethnic populations of Uzbekistan. All values are statistically significant at the 0.05 level after Bonferroni correction (DOC 12.0 kb)

References

  1. 1.
    Wells RS, Yuldasheva N, Ruzibakiev R, Underhill PA, Evseeva I, Blue-Smith J, Jin L, Su B, Pitchappan R, Shanmugalakshmi S, Balakrishnan K, Read M, Pearson NM, Zerjal T, Webster MT, Zholoshvili I, Jamarjashvili E, Gambarov S, Nikbin B, Dostiev A, Aknazarov O, Zalloua P, Tsoy I, Kitaev M, Mirrakhimov M, Chariew A, Bodmer WF (2001) The Eurasian heartland: a continental perspective on Y-chromosome diversity. Proc Natl Acad Sci 98:10244–49CrossRefPubMedGoogle Scholar
  2. 2.
    Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, New JerseyGoogle Scholar
  3. 3.
    Lahr MM, Foley R (1994) Multiple dispersals and modern human origins. Evol Anthropol 3:48–60CrossRefGoogle Scholar
  4. 4.
    Maca-Meyer N, Gonzalez AM, Larruga J, Flores C, Cabrer V (2001) Major genomic mitochondrial lineages delineate early human expansions. BMC Genetics 2:13CrossRefPubMedGoogle Scholar
  5. 5.
    Tanaka M, Cabrera VM, González AM, Larruga JM, Takeyasu T, Fuku N, Guo LJ, Hirose R, Fujita Y, Kurata M, Shinoda K, Umetsu K, Yamada Y, Oshida Y, Sato Y, Hattori N, Mizuno Y, Arai Y, Hirose N, Ohta S, Ogawa O, Tanaka Y, Kawamori R, Shamoto-Nagai M, Maruyama W, Shimokata H, Suzuki R, Shimodaira H (2004) Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14:1832–1850CrossRefPubMedGoogle Scholar
  6. 6.
    Comas D, Calafell F, Mateu E, Perez-Lezaun A, Bosch E, Martinez-Arias R, Clarimon J, Facchini F, Giovanni F, Luiselli D, Pettener D, Pertranpetit B (1998) Trading genes along the Silk Road: mtDNA sequences and the origin of Central Asian populations. Am J Hum Genet 63:1824–1838CrossRefPubMedGoogle Scholar
  7. 7.
    Calafell F, Comas D, Perez-Lezaun A, Bertranpetit J (2000) Genetics and the population history of Central Asia. In: Renfrew C, Boyle K (eds) Archaeogenetics: DNA and the population history of Europe. McDonald Institute for Archaeological Research, CambridgeGoogle Scholar
  8. 8.
    Quintana-Murci L, Chaix R, Wells S, Behar D, Sayar H, Scozzari R, Rengo C, Al-Zahery N, Semino O, Santachiara-Benerecetti S, Coppa A, Ayub Q, Mohyuddin A, Tyler-Smith C, Mehdi Q, Torroni A, McElreavey K (2004) Where west meets east: the complex mtDNA landscape of the Southwest and Central Asian corridor. Am J Hum Genet 74:827–45CrossRefPubMedGoogle Scholar
  9. 9.
    Comas D, Plaza S, Wells RS, Yuldaseva N, Lao O, Calafell F, Bertranpetit J (2004) Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages. Eur J Hum Genet 12:495–504CrossRefPubMedGoogle Scholar
  10. 10.
    Macaulay V, Hill C, Achilli A, Rengo C, Clarke D, Meehan W, Blackburn J, Semino O, Scozzari R, Cruciani F, Taha A, Shaari NK, Raja JM, Ismail P, Zainuddin Z, Goodwin W, Bulbeck D, Bandelt HJ, Oppenheimer S, Torroni A, Richards M (2005) Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes. Science 308:1034–36CrossRefPubMedGoogle Scholar
  11. 11.
    Laluela-Fox C, Sampietro ML, Gilbert MTP, Castri L, Facchini F, Pettener D, Bertranpetit J (2004) Unravelling migrations in the steppe: mitochondrial DNA sequences from ancient Central Asians. Proc Biol Sci 271:941–7CrossRefGoogle Scholar
  12. 12.
    Chaix R, Quintana-Murci L, Hegay T, Hammer MF, Mobasher Z, Austerlitz F, Heyer E (2007) From social to genetic structures in Central Asia. Curr Biol 17:43–8CrossRefPubMedGoogle Scholar
  13. 13.
    Pérez-Lezaun A, Calafell F, Comas D, Mateu E, Bosch E, Martínez-Arias R, Clarimón J, Fiori G, Luiselli D, Facchini F, Pettener D, Bertranpetit J (1999) Sex-specific migration patterns in Central Asian populations, revealed by analysis of Y-chromosome short tandem repeats and mtDNA. Am J Hum Genet 65:208–19CrossRefPubMedGoogle Scholar
  14. 14.
    Yao YG, Lu XM, Luo HR, Li WS, Zhang YP (2000) Gene admixture in the Silk Road region of China: evidence from mtDNA and melanocortin 1 receptor polymorphism. Genes Genet Syst 75:173–178CrossRefPubMedGoogle Scholar
  15. 15.
    Zerjal T, Wells RS, Yuldasheva N, Ruzibakiev R, Tyler-Smith C (2002) A genetic landscape reshaped by recent events: Y-chromosomal insights into Central Asia. Am J Hum Genet 71:466–482CrossRefPubMedGoogle Scholar
  16. 16.
    Chaix R, Austerlitz F, Hegay T, Quintana-Murci L, Heyer E (2008) Genetic traces of east-to-west human expansion waves in Eurasia. Am J Phys Anthropol 136:309–317CrossRefPubMedGoogle Scholar
  17. 17.
    Segurel L, Martinez-Cruz B, Quintana-Murci L, Balaresque P, Georges M, Hegay T, Aldashev A, Nasyrova F, Jobling MA, Heyer E, Vitalis R (2008) PLoS Genet 4:e1000200CrossRefPubMedGoogle Scholar
  18. 18.
    Heyer E, Balaresque P, Jobling MA, Quintana-Murci L, Chaix R, Segurel L, Aldashev A, Hegay T (2009) BMC Genetics 10:49. doi:10.1186/1471-2156-10-49 CrossRefPubMedGoogle Scholar
  19. 19.
    Irwin J, Saunier J, Strouss K, Sturk K, Diegoli T, Just R, Coble M, Parson W, Parsons T (2007) Development and expansion of high quality control region databases to improve forensic mtDNA evidence interpretation. Forensic Sci Int: Genetics 1:154–157CrossRefGoogle Scholar
  20. 20.
    Bandelt HJ, Lahermo P, Richards M, Macaulay V (2001) Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med 115:64–69CrossRefPubMedGoogle Scholar
  21. 21.
    Bandelt HJ, Quintana-Murci L, Salas A, Macaulay V (2002) The fingerprint of phantom mutations in mitochondrial DNA data. Am J Hum Genet 71:1150–1160CrossRefPubMedGoogle Scholar
  22. 22.
    Bandelt HJ, Parson W (2008) Consistent treatment of length variants in the human mtDNA control region: a reappraisal. Int J Legal Med 122:11–21CrossRefPubMedGoogle Scholar
  23. 23.
    Excoffier L, Smouse P, Quattro J (1992) Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 131:479–491PubMedGoogle Scholar
  24. 24.
    Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New YorkGoogle Scholar
  25. 25.
    Stoneking M, Hedgecock D, Higuchi RG, Vigilant L, Erlich HA (1991) Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes. Am J Hum Genet 48:370–382PubMedGoogle Scholar
  26. 26.
    Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.1: an integrated software package for population genetics data analysis. Evol Bioinform Online 1:47–50PubMedGoogle Scholar
  27. 27.
    van Oven M, Kayser M (2009) Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation. Hum Mutat 30(2):E386–E394 http://www.phylotree.org Google Scholar
  28. 28.
    Alvarez-Iglesias V, Jaime JC, Carracedo A, Salas A (2007) Coding region mitochondrial DNA SNPs: targeting East Asian and Native American haplogroups. Forensic Sci Int: Genetics 1:44–55CrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Jodi A. Irwin
    • 1
  • Abror Ikramov
    • 2
  • Jessica Saunier
    • 1
  • Martin Bodner
    • 3
  • Sylvain Amory
    • 4
  • Alexander Röck
    • 5
  • Jennifer O’Callaghan
    • 1
  • Abdurakhmon Nuritdinov
    • 2
  • Sattar Atakhodjaev
    • 2
  • Rustam Mukhamedov
    • 6
  • Walther Parson
    • 3
  • Thomas J. Parsons
    • 4
  1. 1.Research DepartmentArmed Forces DNA Identification Laboratory (AFDIL)RockvilleUSA
  2. 2.Republican Centre of Forensic ExpertiseTashkentRepublic of Uzbekistan
  3. 3.Institute of Legal MedicineInnsbruck Medical UniversityInnsbruckAustria
  4. 4.International Commission on Missing PersonsSarajevoBosnia and Herzegovina
  5. 5.Institute of MathematicsUniversity of InnsbruckInnsbruckAustria
  6. 6.Institute of Genetics and Plant Experimental BiologyAcademy of Sciences of UzbekistanYuqori YuzRepublic of Uzbekistan

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