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Haplogroup V (mtDNA)

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Haplogroup V
Possible time of originOver 14,000 YBP [1]
Possible place of originNear East
AncestorHV0a
DescendantsV1, V2, V3, V4, V5, V6, V7, V8, V9
Defining mutations4580[2]

Haplogroup V is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated over 14,000 years ago in the Near East.

Origin

Haplogroup V derives from the HV0a subclade of haplogroup HV. In 1998 it was argued that V spread over Europe from an Ice Age refuge in Iberia.[3] However more recent estimates of the date of V would place it in the Neolithic.[1]

Distribution

Haplogroup V is a relatively rare mtDNA haplogroup, occurring in around 4% of native Europeans.[4] Its highest concentration is among the Saami people of northern Scandinavia (~59%). It has been found at a frequency of approximately 10% among the Maris of the Volga-Ural region, leading to the suggestion that this region might be the source of the V among the Saami.[5][6] Additionally, haplogroup V has been observed at higher than average levels among Cantabrian people (15%) of northern Iberia,[7] and among the adjacent Basque (10.4%).[8]

Haplogroup V is also found in parts of Northwest Africa. It is mainly concentrated among the Tuareg inhabiting the Gorom-Gorom area in Burkina Faso (21%),[9] Sahrawi in the Western Sahara (17.9%),[10] and Berbers of Matmata, Tunisia (16.3%).[11] The rare V7a subclade occurs among Algerians in Oran (1.08%) and Reguibate Sahrawi (1.85%).[12]

Ancient DNA

MtDNA haplogroup V has been reported in Neolithic remains of the Linear Pottery culture at Halberstadt, Germany c. 5000 BC[13] and Derenburg Meerenstieg, Germany c. 4910 BC.[14] Haplogroup V7 was found in representative Maykop culture samples in the excavations conducted by Alexei Rezepkin.[15] Haplogroup V has been detected in representatives Trypil'ska and Unetice culture.[16][17]

Haplogroup V has also been found among Iberomaurusian specimens dating from the Epipaleolithic at the Taforalt prehistoric site 14,000 years BP.[18]

Tree

This phylogenetic tree of haplogroup V subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[2] and subsequent published research.

  • HV0a
    • V
      • V1
        • V1a
          • V1a1
          • V1a2
      • V2
        • V2a
          • V2a1
            • V2a1a
        • V2b
          • V2b1
      • V3
      • V4
      • V5
      • V6
      • V7
        • V7a
      • V8
      • V9
        • V9a
      • V10
      • V11
      • V12
      • V14
      • V15
      • V16
      • V17
      • V18
      • V22
      • V23
      • V24
      • V25
      • V26
      • V27
      • V28

See also

Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1–6  
L1 L2   L3     L4 L5 L6
M N  
CZ D E G Q   O A S R   I W X Y
C Z B F R0   pre-JT   P   U
HV JT K
H V J T

References

  1. ^ a b Behar DM, et al. (2012). "A "Copernican" Reassessment of the Human Mitochondrial DNA Tree from its Root". The American Journal of Human Genetics. 90 (4): 675–684. doi:10.1016/j.ajhg.2012.03.002. PMC 3322232. PMID 22482806.
  2. ^ a b van Oven M, Kayser M (Feb 2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457. Archived from the original on 2012-12-04.
  3. ^ Torroni A, et al. (1998). "mtDNA Analysis Reveals a Major Late Paleolithic Population Expansion from Southwestern to Northeastern Europe". American Journal of Human Genetics. 62 (5): 1137–1152. doi:10.1086/301822. PMC 1377079. PMID 9545392.
  4. ^ Bryan Sykes (2001). The Seven Daughters of Eve. London; New York: Bantam Press. ISBN 978-0393020182.
  5. ^ Ingman M, Gyllensten U (2007). "A recent genetic link between Sami and the Volga-Ural region of Russia". European Journal of Human Genetics. 15 (1): 115–120. doi:10.1038/sj.ejhg.5201712. PMID 16985502.
  6. ^ Tambets K, Rootsi S, Kivisild T, Help H, Serk P, et al. (2004). "The Western and Eastern Roots of the Saami—the Story of Genetic "Outliers" Told by Mitochondrial DNA and Y Chromosomes". American Journal of Human Genetics. 74 (4): 661–682. doi:10.1086/383203. PMC 1181943. PMID 15024688.
  7. ^ Maca-Meyer N, Sánchez-Velasco P, Flores C, Larruga JM, González AM, Oterino A, Leyva-Cobián F (Jul 2003). "Y chromosome and mitochondrial DNA characterization of Pasiegos, a human isolate from Cantabria (Spain)" (PDF). Annals of Human Genetics. 67 (Pt 4): 329–39. CiteSeerX 10.1.1.584.4253. doi:10.1046/j.1469-1809.2003.00045.x. PMID 12914567.
  8. ^ Soares P, Ermini L, Thomson N, Mormina M, Rito T, Röhl A, Salas A, Oppenheimer S, Macaulay V, Richards MB (2009). "Supplemental Data Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock". The American Journal of Human Genetics. 84 (6): 82–93. doi:10.1016/j.ajhg.2009.05.001. PMC 2694979. PMID 19500773.
  9. ^ Luísa Pereira; Viktor Černý; María Cerezo; Nuno M Silva; Martin Hájek; Alžběta Vašíková; Martina Kujanová; Radim Brdička; Antonio Salas (17 March 2010). "Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel". European Journal of Human Genetics. 18 (8): 915–923. doi:10.1038/ejhg.2010.21. PMC 2987384. PMID 20234393.
  10. ^ S. Plaza; F. Calafell; A. Helal; N. Bouzerna; G. Lefranc; J. Bertranpetit; D. Comas (July 2003). "Joining the Pillars of Hercules: mtDNA Sequences Show Multidirectional Gene Flow in the Western Mediterranean". Annals of Human Genetics. 67 (4): 312–328. doi:10.1046/j.1469-1809.2003.00039.x. PMID 12914566.
  11. ^ Fadhlaoui-Zid K, Plaza S, Calafell F, Ben Amor M, Comas D, Bennamar El gaaied A (May 2004). "Mitochondrial DNA heterogeneity in Tunisian Berbers". Annals of Human Genetics. 68 (Pt 3): 222–33. doi:10.1046/j.1529-8817.2004.00096.x. PMID 15180702.
  12. ^ Asmahan Bekada; Lara R. Arauna; Tahria Deba; Francesc Calafell; Soraya Benhamamouch; David Comas (September 24, 2015). "Genetic Heterogeneity in Algerian Human Populations". PLoS ONE. 10 (9): e0138453. doi:10.1371/journal.pone.0138453. PMC 4581715. PMID 26402429.{{cite journal}}: CS1 maint: unflagged free DOI (link); S5 Table
  13. ^ W. Haak et al., Ancient DNA from the First European Farmers in 7500-Year-Old Neolithic Sites, Science, vol. 310, no. 5750 (2005), pp. 1016-1018.
  14. ^ W. Haak, et al., Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities, PloS Biology, vol. 8, no.11 (November 2010), e1000536.
  15. ^ A. V. Nedoluzhko, E. S. Boulygina, A. S. Sokolov, S. V. Tsygankova, N. M. Gruzdeva, A. D. Rezepkin, E. B. Prokhortchouk. Analysis of the Mitochondrial Genome of a Novosvobodnaya Culture Representative using Next-Generation Sequencing and Its Relation to the Funnel Beaker Culture
  16. ^ A. G. Nikitin et al. (2010) Comprehensive site chronology and ancient Mitochondrial DNA analysis from Verteba cave – a trypillian culture site of eneolithic Ukraine
  17. ^ Unetice Culture (c. 2300-1600 BCE)
  18. ^ Bernard Secher; Rosa Fregel; José M Larruga; Vicente M Cabrera; Phillip Endicott; José J Pestano; Ana M González (2014). "The history of the North African mitochondrial DNA haplogroup U6 gene flow into the African, Eurasian and American continents". BMC Evolutionary Biology. 14: 109. doi:10.1186/1471-2148-14-109. PMC 4062890. PMID 24885141.{{cite journal}}: CS1 maint: unflagged free DOI (link)
  19. ^ http://phylotree.org/tree/R0.htm