The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns
- 529 Downloads
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.
KeywordsmtDNA population data Central Asia Forensics Control region Coding region SNPs
The authors would like to thank Kimberly Sturk, Toni Diegoli, Katharine Strouss, Carla Paintner, Daniela Niederwieser, Bettina Zimmermann, and Gabriela Huber for excellent technical assistance; collaborators Dilobar Akhmedova, and Nizom Rakhmatullaev; Nina Duftner for data analysis; Rebecca Just, Michael Coble, and Ibrokhim Abdurakhmanov for helpful discussion; and the Armed Forces Institute of Pathology, the American Registry of Pathology, James Canik, Brion Smith, and Louis Finelli for logistical and administrative support. Part of this research received support from the FWF Austrian Science Fund (L397). The opinions and assertions contained herein are solely those of the authors and are not to be construed as official or as views of the U.S. Department of Defense, the U.S. Department of the Army, or the U.S. Department of Justice.
- 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.Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, New JerseyGoogle Scholar
- 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.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.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.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
- 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
- 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
- 24.Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New YorkGoogle Scholar