Abstract
To investigate the genetic structure of human populations in the South-west region of Iran, mitochondrial first hypervariable DNA sequences were obtained from 50 individuals representing three different ethnic groups from Khuzestan Province. Studied groups were Shushtari Persians and Chahar Lang Bakhtiyaries from Indo-European-speaking populations and Bani Torof Arabs from Semitic-speaking linguistic families. Genetic analysis of mtDNA data showed high similarity of Chahar Lang Bakhtiyaries with other Iranian Indo-European-speaking populations while Shushtaries and Bani Torofs had a closer affinity with Semitic-speaking groups rather than to other Iranian populations. The relationship of Chahar Lang Bakhtiyaries and Bani Torof Arabs with their neighbor populations can be explained by linguistic and geographic proximity. Whereas, the greater similarity of Shushtari Persians with West Asian Arabs is probably according to high gene flow between them. This article represents a preliminary study of three major ethnic groups of South-west Iran which investigates the potential genetic substructure of the region.
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References
Al-Zahery N, Semino O, Benuzzi G, Magri C, Passarino G, Torroni A, Santachiara-Benerecetti A S (2003). Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations. Mol Phylogenet Evol, 28(3): 458–472
Andrews R M, Kubacka I, Chinnery P F, Lightowlers R N, Turnbull D M, Howell N (1999). Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet, 23(2): 147
Aris-Brosou S, Excoffier L (1996). The impact of population expansion and mutation rate heterogeneity on DNA sequence polymorphism. Mol Biol Evol, 13(3): 494–504
Ashouri E, Farjadian S, Reed E F, Ghaderi A, Rajalingam R (2009). KIR gene content diversity in four Iranian populations. Immunogenetics, 61(7): 483–492
Ashrafian-Bonab M, Lawson Handley L J, Balloux F (2007). Is urbanization scrambling the genetic structure of human populations? A case study. Heredity, 98(3): 151–156
Bandelt H J, Forster P, Röhl A (1999). Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol, 16(1): 37–48
Bandelt H J, Lahermo P, Richards M, Macaulay V (2001). Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med, 115(2): 64–69
Bandelt H J, Quintana-Murci L, Salas A, Macaulay V (2002). The fingerprint of phantom mutations in mitochondrial DNA data. Am J Hum Genet, 71(5): 1150–1160
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(3): 295–307
Brandstätter A, Peterson C T, Irwin J A, Mpoke S, Koech D K, Parson W, Parsons T J (2004). Mitochondrial DNA control region sequences from Nairobi (Kenya): inferring phylogenetic parameters for the establishment of a forensic database. Int J Legal Med, 118(5): 294–306
Brown W M, George M Jr, Wilson A C (1979). Rapid evolution of animal mitochondrial DNA. Proc Natl Acad Sci USA, 76(4): 1967–1971
Carracedo A, Bär W, Lincoln P, Mayr W, Morling N, Olaisen B, Schneider P, Budowle B, Brinkmann B, Gill P, Holland M, Tully G, Wilson M (2000). DNA commission of the international society for forensic genetics: guidelines for mitochondrial DNA ty**. Forensic Sci Int, 110(2): 79–85
Comas D, Plaza S, Wells R S, 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(6): 495–504
Corte-Real H B, Macaulay V A, Richards M B, Hariti G, Issad M S, Cambon-Thomsen A, Papiha S, Bertranpetit J, Sykes B C (1996). Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis. Ann Hum Genet, 60(Pt 4): 331–350
Daniel E L (1987). Arab III. Arab settlements in Iran. In: Yarshater E, ed. Encyclopaedia Iranica, Online Edition, available at http://iranica.com/articles/arab-iii
Di Rienzo A, Wilson A C (1991). Branching pattern in the evolutionary tree for human mitochondrial DNA. Proceeding of the National Academy of Sciences of the United States of America, 88(5): 1597–1601
Elson J L, Andrews RM, Chinnery P F, Lightowlers R N, Turnbull DM, Howell N (2001). Analysis of European mtDNAs for recombination. Am J Hum Genet, 68(1): 145–153
Ethnologue (2000). http://www.ethnologue.com
Excoffier L, Laval G, Schneider S (2005). Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform Online, 1: 47–50
Excoffier L, Smouse P E, Quattro J M (1992). Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics, 131(2): 479–491
Farjadian S, Moqadam F A, Ghaderi A (2006). HLA class II gene polymorphism in Parsees and Zoroastrians of Iran. Int J Immunogenet, 33(3): 185–191
Farjadian S, Ota M, Inoko H, Ghaderi A (2009). The genetic relationship among Iranian ethnic groups: an anthropological view based on HLA class II gene polymorphism. Mol Biol Rep, 36(7): 1943–1950
Fu Y X (1997). Statistical tests of neutrality of mutations against population growth, hitchhiking and background selection. Genetics, 147(2): 915–925
Gershevitch I (1968). The Cambridge history of Iran. Vol.1: The land of Iran. Cambridge University Press
González A M, Karadsheh N, Maca-Meyer N, Flores C, Cabrera V M, Larruga J M (2008). Mitochondrial DNA variation in Jordanians and their genetic relationship to other Middle East populations. Ann Hum Biol, 35(2): 212–231
Hall T A (1999). BioEdit: a user-friendly biological sequence alignment editor and analysis program for Windows 95/98/NT. Nucleic Acids Symposium Series, 41: 95–98
Harpending H C, Sherry S T, Rogers A R, Stoneking M (1993). The genetic structure of ancient human populations. Curr Anthropol, 34(4): 483–496
Houshmand M, Sanati M, Vakilian M, Akuchekian M, Babrzadeh F, Teimori M, Farhud D (2004). Investigation of the mitochondrial haplogroups M, BM, N, J, K and their frequencies in five regions in Iran. Iranian J Biotechnol, 2: 44–48
Imaizumi K, Parsons T J, Yoshino M, Holland M M (2002). A new database of mitochondrial DNA hypervariable regions I and II sequences from 162 Japanese individuals. Int J Legal Med, 116(2): 68–73
Kheirabadi M, MacKinnon C (1995). Dezful. In: Yarshater E, ed. Encyclopaedia Iranica, Online Edition, available at http://iranica.com/articles/dezful.
Kivisild T, Rootsi S, Metspalu M, Mastana S, Kaldma K, Parik J, Metspalu E, Adojaan M, Tolk H V, Stepanov V, Gölge M, Usanga E, Papiha S S, Cinnioğlu C, King R, Cavalli-Sforza L, Underhill P A, Villems R (2003). The genetic heritage of the earliest settlers persists both in Indian tribal and caste populations. Am J Hum Genet, 72(2): 313–332
Krings M, Salem A E, Bauer K, Geisert H, Malek A K, Chaix L, Simon C, Welsby D, Di Rienzo A, Utermann G, Sajantila A, Pääbo S, Stoneking M (1999). mtDNA analysis of Nile River Valley populations: A genetic corridor or a barrier to migration? Am J Hum Genet, 64(4): 1166–1176
Kruskal J B (1964). Multidimensional scaling by optimizing goodness of fit to a nonmetric hypothesis. Psychometrika, 29(1): 1–27
Macaulay V, Richards M, Hickey E, Vega E, Cruciani F, Guida V, Scozzari R, Bonné-Tamir B, Sykes B, Torroni A (1999). The emerging tree of West Eurasian mtDNAs: a synthesis of controlregion sequences and RFLPs. Am J Hum Genet, 64(1): 232–249
Maliarchuk B A, Derenko M V, Denisova G A, Nassiri MR, Rogaev E I (2002). Mitochondrial DNA polymorphism in populations of the Caspian region and southeastern Europe. Genetika, 38(4): 534–538
Mergen H, Oner R, Oner C (2004). Mitochondrial DNA sequence variation in the Anatolian Peninsula (Turkey). J Genet, 83(1): 39–47
Morony M (2006). Arab II. Arab conquest of Iran. In: Yarshater E, ed. Encyclopaedia Iranica, Online Edition, available at http://iranica.com/articles/arab-ii.
Morovvati S, Modarresi M, Habibi G, Kiarudi Y, Karami A, Peyvandi A A (2007). Sequence analysis of mitochondrial DNA hypervariable regions: an approach to personal identification. Arch Med Res, 38(3): 345–349
Nasidze I, Ling E Y, Quinque D, Dupanloup I, Cordaux R, Rychkov S, Naumova O, Zhukova O, Sarraf-Zadegan N, Naderi G A, Asgary S, Sardas S, Farhud D D, Sarkisian T, Asadov C, Kerimov A, Stoneking M (2004). Mitochondrial DNA and Y-chromosome variation in the caucasus. Ann Hum Genet, 68(Pt 3): 205–221
Nasidze I, Quinque D, Ozturk M, Bendukidze N, Stoneking M (2005). MtDNA and Y-chromosome variation in Kurdish groups. Ann Hum Genet, 69(Pt 4): 401–412
Nasidze I, Quinque D, Rahmani M, Alemohamad S A, Asadova P, Zhukova O, Stoneking M (2009). mtDNA and Y-chromosome variation in the Talysh of Iran and Azerbaijan. Am J Phys Anthropol, 138(1): 82–89
Nasidze I, Quinque D, Rahmani M, Alemohamad S A, Stoneking M (2006). Concomitant replacement of language and mtDNA in South Caspian populations of Iran. Curr Biol, 16(7): 668–673
Nasidze I, Quinque D, Rahmani M, Alemohamad S A, Stoneking M (2008a). Close genetic relationship between Semitic-speaking and Indo-European-speaking groups in Iran. Ann Hum Genet, 72(Pt 2): 241–252
Nasidze I, Stoneking M (2001). Mitochondrial DNA variation and language replacements in the Caucasus. Proc Biol Sci, 268(1472): 1197–1206
Nei M (1978). Estimation of average heterozygosity and genetic distance from a small number of individuals. Genetics, 89(3): 583–590
Nei M, Tajima F, Tateno Y (1983). Accuracy of estimated phylogenetic trees from molecular data. II. Gene frequency data. J Mol Evol, 19(2): 153–170
Orekhov V, Poltoraus A, Zhivotovsky L A, Spitsyn V, Ivanov P, Yankovsky N (1999). Mitochondrial DNA sequence diversity in Russians. FEBS Lett, 445(1): 197–201
Pons O, Petit R J (1995). Estimation, variance and optimal sampling of gene diversity. Theor Appl Genet, 90(3–4): 462–470
Pour Kazem K (1998). Lur and Bakhtiyari tribes and relationship of them to Arabs of Khuzestan. Sarzamine Khuz Press
Quintana-Murci L, Chaix R, Wells R S, Behar D M, Sayar H, Scozzari R, Rengo C, Al-Zahery N, Semino O, Santachiara-Benerecetti A S, Coppa A, Ayub Q, Mohyuddin A, Tyler-Smith C, Qasim Mehdi S, 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(5): 827–845
Quintana-Murci L, Rötig A, Munnich A, Rustin P, Bourgeron T (2001). Mitochondrial DNA inheritance in patients with deleted mtDNA. J Med Genet, 38(9): E28
Richard C, Pennarun E, Kivisild T, Tambets K, Tolk H V, Metspalu E, Reidla M, Chevalier S, Giraudet S, Lauc L B, Pericić M, Rudan P, Claustres M, Journel H, Dorval I, Müller C, Villems R, Chaventré A, Moisan J P (2007). An mtDNA perspective of French genetic variation. Ann Hum Biol, 34(1): 68–79
Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V, Rengo C, Sellitto D, Cruciani F, Kivisild T, Villems R, Thomas M, Rychkov S, Rychkov O, Rychkov Y, Gölge M, Dimitrov D, Hill E, Bradley D, Romano V, Calì F, Vona G, Demaine A, Papiha S, Triantaphyllidis C, Stefanescu G, Hatina J, Belledi M, Di Rienzo A, Novelletto A, Oppenheim A, Nørby S, Al-Zaheri N, Santachiara-Benerecetti S, Scozari R, Torroni A, Bandelt H J (2000). Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet, 67(5): 1251–1276
Richards M B, Macaulay V A, Bandelt H J, Sykes B C (1998). Phylogeography of mitochondrial DNA in western Europe. Ann Hum Genet, 62(Pt 3): 241–260
Salas A, Acosta A, Alvarez-Iglesias V, Cerezo M, Phillips C, Lareu M V, Carracedo A (2008). The mtDNA ancestry of admixed Colombian populations. Am J Hum Biol, 20(5): 584–591
Semino O, Passarino G, Oefner P J, Lin A A, Arbuzova S, Beckman L E, De Benedictis G, Francalacci P, Kouvatsi A, Limborska S, Marcikiae M, Mika A, Mika B, Primorac D, Santachiara-Benerecetti A S, Cavalli-Sforza L L, Underhill P A (2000). The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective. Science, 290(5494): 1155–1159
Tajima F (1989). Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics, 123(3): 585–595
Takezaki N, Nei M, Tamura K (2010). POPTREE2: Software for constructing population trees from allele frequency data and computing other population statistics with Windows interface. Mol Biol Evol, 27(4): 747–752
Terreros MC, Rowold D J, Mirabal S, Herrera R J (2011). Mitochondrial DNA and Y-chromosomal stratification in Iran: relationship between Iran and the Arabian Peninsula. J Hum Genet, 56(3): 235–246
Thompson J D, Higgins D G, Gibson T J (1994). CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res, 22(22): 4673–4680
Torroni A, Bandelt H J, D’Urbano L, Lahermo P, Moral P, Sellitto D, Rengo C, Forster P, Savontaus M L, Bonné-Tamir B, Scozzari R (1998). mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. Am J Hum Genet, 62(5): 1137–1152
Torroni A, Bandelt H J, Macaulay V, Richards M, Cruciani F, Rengo C, Martinez-Cabrera V, Villems R, Kivisild T, Metspalu E, Parik J, Tolk H V, Tambets K, Forster P, Karger B, Francalacci P, Rudan P, Janicijevic B, Rickards O, Savontaus M L, Huoponen K, Laitinen V, Koivumäki S, Sykes B, Hickey E, Novelletto A, Moral P, Sellitto D, Coppa A, Al-Zaheri N, Santachiara-Benerecetti A S, Semino O, Scozzari R (2001). A signal, from human mtDNA, of postglacial recolonization in Europe. Am J Hum Genet, 69(4): 844–852
Wilson M R, Stoneking M, Holland M M, Dizinno I A, Budowle B (1993). Guidelines for the use of mitochondrial DNA sequencing in forensic science. Crime Laboratory Digest, 20(4): 68–77
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Davoudi-Dehaghani, E., Foroughmand, A.M., Saffari, B. et al. Mitochondrial DNA sequence diversity in three ethnic populations from the South-west Iran: a preliminary study. Front. Biol. 6, 422–432 (2011). https://doi.org/10.1007/s11515-011-1140-8
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DOI: https://doi.org/10.1007/s11515-011-1140-8