Haplogroup HV (mtDNA)

Haplogroup HV
Possible time of origin 25000-30000 YBP
Possible place of origin Near East or Caucasus[1]
Ancestor R0
Descendants HV0, HV1, HV2, HV3, HV4, HV5, H
Defining mutations T14766C[2]

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

Origin

Haplogroup HV derives from the Haplogroup R0 (which in turn derives from haplogroup R). HV is also the ancestral haplogroup to Haplogroup H and Haplogroup V.

Distribution

Haplogroup HV is a west Eurasian haplogroup found throughout western Asia and southern and eastern Europe, especially Iran, Anatolia (present-day Turkey) and the Caucasus Mountains of southern Russia and the republic of Georgia. It is also found to a much lesser extent in parts of north-east Africa, mainly in the population of Sudanese Arabs, where the frequency of Eurasian ancestry is 22.5%,[3] and a very high frequency of Y-chromosome Haplogroup J (Y-DNA) is also found.[4]

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.[5]

Subclades

Tree

This phylogenetic tree of haplogroup HV subclades is based on the paper by van Oven 2009[2] and Malyarchuk et al. 2008.[1]

HV0 and HVSI C16298T

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.[7]

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.[8]

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.[9]

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.[10]

See also

Evolutionary 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. 1 2 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.
  2. 1 2 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.
  3. ↑ Afonso, C.; Alshamali, F.; Pereira, J.B.; Fernandes, V.; Costa, M.; Pereira, L. (2008). "MtDNA diversity in Sudan (East Africa)". Forensic Science International: Genetics Supplement Series 1: 257. doi:10.1016/j.fsigss.2007.10.118.
  4. ↑ Hassan, Hisham Y.; Underhill, Peter A.; Cavalli-Sforza, Luca L.; Ibrahim, Muntaser E. (2008). "Y-chromosome variation among Sudanese: Restricted gene flow, concordance with language, geography, and history". American Journal of Physical Anthropology 137 (3): 316–23. doi:10.1002/ajpa.20876. PMID 18618658.
  5. ↑ 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.
  6. ↑ Haplogroup HV Ian Logan's Mitochondrial DNA Site 2009
  7. ↑ 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.
  8. ↑ 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:10.1017/S0003480002001161 (inactive 2015-01-13). PMID 12418968.
  9. ↑ 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.
  10. ↑ 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.

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