Skip to main content
Log in

Mitochondrial DNA sequence diversity in three ethnic populations from the South-west Iran: a preliminary study

  • Research Article
  • Published:
Frontiers in Biology

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Bandelt H J, Forster P, Röhl A (1999). Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol, 16(1): 37–48

    PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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 typing. Forensic Sci Int, 110(2): 79–85

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Fu Y X (1997). Statistical tests of neutrality of mutations against population growth, hitchhiking and background selection. Genetics, 147(2): 915–925

    PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • 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

    CAS  Google Scholar 

  • 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

    Article  Google Scholar 

  • 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

    CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Kruskal J B (1964). Multidimensional scaling by optimizing goodness of fit to a nonmetric hypothesis. Psychometrika, 29(1): 1–27

    Article  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • Mergen H, Oner R, Oner C (2004). Mitochondrial DNA sequence variation in the Anatolian Peninsula (Turkey). J Genet, 83(1): 39–47

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Nasidze I, Stoneking M (2001). Mitochondrial DNA variation and language replacements in the Caucasus. Proc Biol Sci, 268(1472): 1197–1206

    Article  PubMed  CAS  Google Scholar 

  • Nei M (1978). Estimation of average heterozygosity and genetic distance from a small number of individuals. Genetics, 89(3): 583–590

    PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Pons O, Petit R J (1995). Estimation, variance and optimal sampling of gene diversity. Theor Appl Genet, 90(3–4): 462–470

    Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • 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

    PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Tajima F (1989). Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics, 123(3): 585–595

    PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • 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

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Elham Davoudi-Dehaghani.

Electronic supplementary material

Rights and permissions

Reprints and permissions

About this article

Cite this article

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

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11515-011-1140-8

Keywords

Navigation