Haplogroup HV (mtDNA)

Haplogroup HV is a human mitochondrial DNA (mtDNA) haplogroup.

Haplogroup HV
Possible time of origin>24 kya[1]
Possible place of originWest Asia (Near East or Caucasus)[2]
DescendantsHV0, HV1, HV2, HV3, HV4, HV5, H
Defining mutationsT14766C[3]


Haplogroup HV derives from the haplogroup R0, which in turn descends from haplogroup R. HV is also the ancestral clade to the haplogroups H and V. A possible origin of HV haplogroup is in the region of Western Iran, Mesopotamia, and the South Caucasus, where the highest prevalence of HV has been found.[4]


Haplogroup HV is found mainly in Western Asia, Central Asia, Southern Europe, Eastern Europe, and North Africa.

In Africa, the clade peaks among Egyptians inhabiting El-Hayez oasis (14.3%).[5] with the HV0 subclade occurring among Mozabite Berbers (8.24%),[6] Libyans (7.4%),[7] Reguibate Sahrawi (6.48%),[6] Zenata Berbers (5.48%),[6] and Algerians (4.84% total; 2.15%-3.75% in Oran).[6]

In a study published in 2013, haplogroup HV(xHV0, H) was found in great percentages of populations in Afghanistan: 11.0% (14/127) Uzbek (including 1/127 HV2 and 1/127 HV6), 8.2% (12/146) Tajik (including 3/146 HV6 and 1/146 HV2), 8.0% (6/75) Turkmen (including 1/75 HV2), 6.4% (5/78) Hazara, and 5.6% (5/90) Pashtun.[8] Furthermore, haplogroup HV0 was found in 1.4% (2/146) of the sample of Afghanistani Tajiks, but it is unclear whether these belong to the haplogroup V subclade.[8] The subclade HV1a1a has been found in 1.8% (3/169) of Yakuts in one study[9] and 1.2% (5/423) of Yakuts in another study[10] published in 2013.

A 2003 study was published reporting on the mtDNA sequencing of the bones of two 24,000-year-old anatomically modern humans of the Cro-Magnon type from southern Italy. The study showed one was of either haplogroup HV or R0.[11] Haplogroup HV has also been found among ancient Egyptian mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which date from the Pre-Ptolemaic/late New Kingdom, Ptolemaic, and Roman periods.[12]

Haplogroup HV has been found in various fossils that were analysed for ancient DNA, including specimens associated with the Alföld Linear Pottery (HV, Mezőkövesd-Mocsolyás, 1/3 or 33%), Linearbandkeramik (HV0a, Fajsz-Garadomb, 1/2 or 50%), and Germany Middle Neolithic (HV, Quedlinburg, 1/2 or 50%) cultures.[13]



This phylogenetic tree of haplogroup HV subclades is based on the paper by van Oven (2009)[3] and Malyarchuk et al. (2008). [14]

  • HV
    • HV0 (formerly known as pre-V)
      • HV0a (formerly known as preV*2)
        • HV0a1
        • V
      • 195 (formerly known as preV*1)
        • HV0b
        • HV0c
    • HV1
      • HV1a
        • HV1a1
          • HV1a1a
        • HV1a2
      • HV1b
        • HV1b1
        • HV1b2
      • HV1c
    • 73
      • HV2
        • HV2a
    • HV4
      • HV4a
    • HV5
    • 16311 (formerly known as HV3) [15] (13±2 kya)[16]
      • HV6 (formerly known as HV3b) (15.4±4.5 kya)
        • HV6a (formerly known as HV3b1)
      • HV7 (formerly known as HV3c)
      • HV8 (formerly known as HV3d)
      • HV9 (formerly known as HV3a) (8.2±2.9 kya)
        • 152
          • HV9a
      • HV10
    • H

HV0 and HVSI C16298TEdit

Defining mutation C/T at location 16298 in segment I one of the hypervariable segment is labeled as HV0 as of 2012. The percentage of people that tested positive for the above mutation in a study of western European populations in 2002 is given below.[17]

Population #No % of population
Finland 50 12
Norway 323 4
Scotland 874 4
England 262 3
North Germany 140 6
South Germany 266 5
France 213 3
Galicia 135 5
North Portugal 184 7
Central Portugal 162 3
South Portugal 196 4
North Africa 349 5

In a study of Russian and Polish populations the percentage of people who tested positive for this mutation was five percent for both populations.[18]

Population #No Percentage
Polish 436 5
Russian 201 5

A study of Iraqis summarized a number of previous studies showing low levels of this mutation amongst Middle Eastern and Italian populations.[19]

Population #No % of population
Iraqi 216 0.5
Syrian 69 2.9
Georgian 139 0.7
Italian 99 5.1

This mutation has been detected in ancient DNA obtained from one of nineteen human remains excavated on the island of Gotland, Sweden, dated to 2,800-2,000 BC and archaeologically classified as belonging to the Pitted Ware culture.[20]

See alsoEdit

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


  1. ^ Malyarchuk et al. (2008): "The main components of the middle Upper Paleolithic (26,000 YBP) were HV*, U1, possibly U2, and U4, and the main component of early Upper Paleolithic (45,000 YBP) was mainly haplogroup U5"
  2. ^ Malyarchuk et al. (2008): "It has been suggested that most of the HV haplogroups presently found in Europe originated in the Near East and Caucasus region (Richards et al. 2000; Tambets et al. 2000), but there are still many questions concerning classification of haplogroups belonging to HV family."
  3. ^ a b Van Oven, Mannis; Kayser, Manfred (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.
  4. ^ Shamoon-Pour, Michel; Li, Mian; Merriwether, D. Andrew (14 October 2019). "Rare human mitochondrial HV lineages spread from the Near East and Caucasus during post-LGM and Neolithic expansions". Scientific Reports. 9 (1). doi:10.1038/s41598-019-48596-1. eISSN 2045-2322. PMC 6791841. PMID 31611588.
  5. ^ Martina Kujanova; Luisa Pereira; Veronica Fernandes; Joana B. Pereira; Viktor Cerny (2009). "Near Eastern Neolithic Genetic Input in a Small Oasis of the Egyptian Western Desert". American Journal of Physical Anthropology. 140 (2): 336–346. doi:10.1002/ajpa.21078. PMID 19425100.
  6. ^ a b c d 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
  7. ^ Karima Fadhlaoui-Zid; Laura Rodríguez-Botigué; Nejib Naoui; Amel Benammar-Elgaaied; Francesc Calafell; David Comas (May 2011). "Mitochondrial DNA structure in North Africa reveals a genetic discontinuity in the Nile Valley" (PDF). American Journal of Physical Anthropology. 145 (1): 107–117. doi:10.1002/ajpa.21472. hdl:10261/42802. PMID 21312180. Retrieved 20 April 2016.
  8. ^ a b Di Cristofaro J, Pennarun E, Mazières S, Myres NM, Lin AA, et al. (2013), "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge." PLoS ONE 8(10): e76748. doi:10.1371/journal.pone.0076748
  9. ^ Duggan AT, Whitten M, Wiebe V, Crawford M, Butthof A, et al. (2013), "Investigating the Prehistory of Tungusic Peoples of Siberia and the Amur-Ussuri Region with Complete mtDNA Genome Sequences and Y-chromosomal Markers." PLoS ONE 8(12): e83570. doi:10.1371/journal.pone.0083570
  10. ^ Sardana A Fedorova, Maere Reidla, Ene Metspalu, et al., "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia." BMC Evolutionary Biology 2013, 13:127. http://www.biomedcentral.com/1471-2148/13/127
  11. ^ Caramelli, D; Lalueza-Fox, C; Vernesi, C; Lari, M; Casoli, A; Mallegni, F; Chiarelli, B; Dupanloup, I; et al. (2003). "Evidence for a genetic discontinuity between Neandertals and 24,000-year-old anatomically modern Europeans". Proceedings of the National Academy of Sciences of the United States of America. 100 (11): 6593–7. Bibcode:2003PNAS..100.6593C. doi:10.1073/pnas.1130343100. PMC 164492. PMID 12743370.
  12. ^ Schuenemann, Verena J.; et al. (2017). "Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods". Nature Communications. 8: 15694. Bibcode:2017NatCo...815694S. doi:10.1038/ncomms15694. PMC 5459999. PMID 28556824.
  13. ^ Mark Lipson; et al. (2017). "Parallel palaeogenomic transects reveal complex genetic history of early European farmers". Nature. 551 (7680): 368–372. Bibcode:2017Natur.551..368L. doi:10.1038/nature24476. PMC 5973800. PMID 29144465. Retrieved 15 November 2017.
  14. ^ Malyarchuk, B.; Grzybowski, T.; Derenko, M.; Perkova, M.; Vanecek, T.; Lazur, J.; Gomolcak, P.; Tsybovsky, I. (2008). "Mitochondrial DNA Phylogeny in Eastern and Western Slavs". Molecular Biology and Evolution. 25 (8): 1651–8. doi:10.1093/molbev/msn114. PMID 18477584.
  15. ^ Haplogroup HV Ian Logan's Mitochondrial DNA Site 2009
  16. ^ Malyarchuk et al. (2008): "The coalescence age of the entire HV3 defined by a transition at np 16311 is 12,700 ± 1,960 YBP. We should note, however, that HV3 might be polyphyletic due to the hypervariability of np 16311. Meanwhile, subclusters HV3a and HV3b are likely monophyletic and their age estimates were 8,200 ± 2,900 and 15,420 ± 4,500 YBP, respectively. However, HV3b is characterized by a high ratio of nonsynonymous versus synonymous substitutions, so its coalescence age can be estimated as 11,837 ± 4,460 YBP, using the rate suggested by Kivisild et al. (2006) (table 2). The same is probably true for the haplogroup HV4 age estimation."
  17. ^ González, AM; Brehm, A; Pérez, JA; Maca-Meyer, N; Flores, C; Cabrera, VM (2003). "Mitochondrial DNA affinities at the Atlantic fringe of Europe". American Journal of Physical Anthropology. 120 (4): 391–404. doi:10.1002/ajpa.10168. PMID 12627534.
  18. ^ Malyarchuk, BA; Grzybowski, T; Derenko, MV; Czarny, J; Woźniak, M; Miścicka-Sliwka, D (2002). "Mitochondrial DNA variability in Poles and Russians". Annals of Human Genetics. 66 (Pt 4): 261–83. doi:10.1046/j.1469-1809.2002.00116.x. PMID 12418968. S2CID 221424344.
  19. ^ Al-Zahery, N; Semino, O; Benuzzi, G; Magri, C; Passarino, G; Torroni, A; Santachiara-Benerecetti, AS (2003). "Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations". Molecular Phylogenetics & Evolution. 28 (3): 458–72. doi:10.1016/S1055-7903(03)00039-3. PMID 12927131.
  20. ^ Malmström, Helena; Gilbert, M. Thomas P.; Thomas, Mark G.; Brandström, Mikael; Storå, Jan; Molnar, Petra; Andersen, Pernille K.; Bendixen, Christian; et al. (2009). "Ancient DNA Reveals Lack of Continuity between Neolithic Hunter-Gatherers and Contemporary Scandinavians". Current Biology. 19 (20): 1758–62. doi:10.1016/j.cub.2009.09.017. PMID 19781941. S2CID 9487217.

External linksEdit