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Haplogroup V (mtDNA)

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Haplogroup V
Possible time of originOver 14,000 years BP[1]
Possible place of originEurope (southwestern)
AncestorHV0a
DescendantsV1, V2, V3, V4, V5, V6, V7, V8, V9, V10, V11, V12, V14, V15, V16, V17, V18, V22, V23, V24, V25, V26, V27, V28
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 Southwestern Europe.[3][4]

Origin

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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

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Haplogroup V is a relatively rare mtDNA haplogroup, occurring in around 4% of native Europeans.[5] Its highest concentration is among the Saami people of northern Fennoscandia (~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.[6][7] Haplogroup V has been observed at higher than average levels among Cantabrian people (15%) of northern Iberia,[8] and among the adjacent Basque (10.4%).[9]

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%),[10] Sahrawi in the Western Sahara (17.9%),[11] and Berbers of Matmata, Tunisia (16.3%).[12] The rare V7a subclade occurs among Algerians in Oran (1.08%) and Reguibate Sahrawi (1.85%).[13]

Ancient DNA

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MtDNA haplogroup V has been reported in Neolithic remains of the Linear Pottery culture at Halberstadt, Germany c. 5000 BC[14] and Derenburg Meerenstieg, Germany c. 4910 BC.[15] Haplogroup V7 was found in representative Maykop culture samples in the excavations conducted by Alexei Rezepkin.[16] Haplogroup V has been detected in representatives Trypil'ska and Unetice culture.[17][18]

Haplogroup V has also been found among Iberomaurusian specimens dating from the Epipaleolithic at the Taforalt prehistoric site 14,000 years BP.[19]

Haplogroup V has also been found among Somogyvár-Vinkovci culture specimens dating from the Bronze Age from Western Hungary https://www.biorxiv.org/content/10.1101/2022.02.03.478968v1.full.pdf

Tree

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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.

  • V
    • V1
      • V1a found mostly from central to northeast Europe
        • V1a1 found in Scandinavia (including Lapland), Finland and Baltic countries
        • V1a2 found in Bronze Age Poland
      • V1b found in Germany, Poland
    • V2 found in the British Isles
      • V2a found in Ireland
      • V2b found in England, Germany, Denmark, Poland, Spain
        • V2b1
      • V2c found in Norway,[21] Denmark, England, Ireland, Switzerland
    • V3 found in northwest Europe / found in Late Neolithic Hungary (Bell Beaker)
      • V3b
      • V3c found in northern, central and eastern Europe
    • V4 found in France
    • V5 found in Lapland
    • V6 found in northwest Europe
    • V7
      • V7a found mostly in Slavic countries, but also in Scandinavia, Germany and France[22]
      • V7b found in eastern Europe and France[23]
    • V8 found in North Europe
    • V9
      • V9a found in the British Isles
        • V9a1
        • V9a2 found in Ireland, England, Scotland (Shetland), Denmark
    • V10 found in the British Isles, northwest France and Sweden / found in Bell Beaker Scotland
      • V10a found in Sweden,[24] Ireland,[25] Spain[26]
      • V10b found in EBA England
    • V11 found in Italy (Calabria)[27]
    • V12 found in Germany
    • V13 found in Poland and Russia
    • V14 found in Poland and Iberia
    • V15 found in England, Norway and Armenia
    • V16 found in Britain, Germany and Denmark
    • V17 found in England / found in Late Neolithic France
    • V18 found in the Netherlands, Germany and Italy
      • V18a found in Slavic countries, Sweden, Denmark, Spain, and the Netherlands[29]
    • V19 found in the United Kingdom (including Northern Ireland), Ireland
    • V20 found in Norway
    • V21
    • V22 found in Spain (including Basques) and France (Basques)
    • V23
    • V24
    • V25 found in South Europe, Berbers of Algeria and Morocco[30]
    • V26 found in Denmark and Germany
    • V27 found in Denmark
    • V28 found in Denmark
    • V29
    • V30
    • V31
    • V32
    • V33
    • V34
    • V35
    • V36
    • V37
    • V38
    • V39
    • V40
    • V41
    • V42
    • V43
    • V44
    • V45
    • V46
    • V47
    • V48
    • V49
    • V50
    • V51
    • V52
    • V53
    • V54
    • V55
    • V56
    • V57
    • V58
    • V59
    • V60
    • V61
    • V62
    • V63
    • V64
    • V65
    • V66
    • V67
    • V68
    • V69
    • V70
    • V71
    • V72
    • V73
    • V74
    • V75
    • V76
    • V77
    • V78
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See also

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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

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  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. S2CID 27566749.
  3. ^ a b 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. ^ Brandstätter, Anita; Zimmermann, Bettina; Wagner, Janine; Göbel, Tanja; Röck, Alexander W.; Salas, Antonio; Carracedo, Angel; Parson, Walther (2008-07-04). "Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East". BMC Evolutionary Biology. 8 (1): 191. Bibcode:2008BMCEE...8..191B. doi:10.1186/1471-2148-8-191. ISSN 1471-2148. PMC 2491632. PMID 18601722.
  5. ^ Bryan Sykes (2001). The Seven Daughters of Eve. London; New York: Bantam Press. ISBN 978-0393020182.
  6. ^ 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.
  7. ^ 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.
  8. ^ 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. S2CID 40355653. Archived from the original (PDF) on 2007-04-04. Retrieved 2012-08-08.
  9. ^ 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.
  10. ^ 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.
  11. ^ 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. S2CID 11201992.
  12. ^ 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. S2CID 6407058.
  13. ^ 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. Bibcode:2015PLoSO..1038453B. doi:10.1371/journal.pone.0138453. PMC 4581715. PMID 26402429.; S5 Table
  14. ^ 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.
  15. ^ 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.
  16. ^ 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
  17. ^ A. G. Nikitin et al. (2010) Comprehensive site chronology and ancient Mitochondrial DNA analysis from Verteba cave – a trypillian culture site of eneolithic Ukraine
  18. ^ Unetice Culture (c. 2300-1600 BCE)
  19. ^ 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 (1): 109. Bibcode:2014BMCEE..14..109S. doi:10.1186/1471-2148-14-109. PMC 4062890. PMID 24885141.
  20. ^ GenBank Accession number: MN516627.1
  21. ^ GenBank Accession number: MF077563.1
  22. ^ Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. pp. 118–119. doi:10.2307/j.ctv33mgbcn. ISBN 978-1644699843. S2CID 254519342.
  23. ^ Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. p. 119. doi:10.2307/j.ctv33mgbcn. ISBN 978-1644699843. S2CID 254519342.
  24. ^ GenBank Accession number: KF964063.1
  25. ^ GenBank Accession number: KX868658.1
  26. ^ GenBank Accession number: MK036913.1
  27. ^ GenBank Accession number: JX153279.1
  28. ^ "PhyloTree.org | tree | R0".
  29. ^ Brook, Kevin Alan (2022). The Maternal Genetic Lineages of Ashkenazic Jews. Academic Studies Press. pp. 120–121. doi:10.2307/j.ctv33mgbcn. ISBN 978-1644699843. S2CID 254519342.
  30. ^ GenBank Accession number: OL875073.1
  31. ^ Gates Jr., Henry Louis (2015). Finding Your Roots: The Official Companion to the PBS Series. The University of North Carolina Press. p. 110.
  32. ^ Gates Jr., Henry Louis (2015). Finding Your Roots: The Official Companion to the PBS Series. The University of North Carolina Press. p. 110.
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