|Possible time of origin
|Possible place of origin
||H* lineages, H1, H2, H3, H4, H5'36, H6, H7, H8, H9, H10, H11, H12, H13, H14, H15, H16, H18, H19, H20, H22, H23, H24, H25, H26, H28, H29, H31, H32, H33, H34, H35, H37, H38, H39, 16129(H17+H27), 16129(H21+H30)
Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated in Southwest Asia, around 20,000 to 25,000 years ago.
Mitochondrial haplogroup H is today predominantly found in Europe, and is believed to have evolved before the Last Glacial Maximum (LGM). It first expanded in the northern Near East and Southern Caucasus between 33,000 and 26,000 years ago, and later migrations from Iberia suggest that the clade reached Europe before the Last Glacial Maximum. The haplogroup has also spread to parts of Africa, Siberia and inner Asia. Today, around 40% of all maternal lineages in Europe belong to haplogroup H.
Haplogroup H is a descendant of haplogroup HV. The Cambridge Reference Sequence (CRS), which until recently was the human mitochondrial sequence to which all others were compared, belongs to haplogroup H2a2a1 (human mitochondrial sequences should now be compared with the ancestral Reconstructed Sapiens Reference Sequence (RSRS)). Several independent studies conclude that haplogroup H probably evolved in West Asia c. 25,000 years ago. It was carried to Europe by migrations c. 20,000–25,000 years ago, and spread with population of the southwest of the continent. Its arrival was roughly contemporary with the rise of the Gravettian culture. The spread of subclades H1, H3 and the sister haplogroup V reflect a second intra-European expansion from the Franco-Cantabrian region after the last glacial maximum, c. 13,000 years ago.
In July 2008 ancient mtDNA from an individual called Paglicci 23, whose remains were dated to 28,000 years ago and excavated from Paglicci Cave (Apulia, Italy), were found to be identical to the Cambridge Reference Sequence in HVR1. This once was believed to indicate haplogroup H, but researchers now recognize that CRS can also appear in U or HV. Haplogroup HV derives from the Haplogroup R0 which in turn derives from haplogroup R is a descendant of macro-haplogroup N like its sibling M, is a descendant of haplogroup L3.
Haplogroup H has also been found among Iberomaurusian specimens dating from the Epipaleolithic at the Taforalt prehistoric site.
The clade has been observed among ancient Egyptian mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which date from the Pre-Ptolemaic/late New Kingdom and Ptolemaic periods.
Additionally, haplogroup H has been found among specimens at the mainland cemetery in Kulubnarti, Sudan, which date from the Early Christian period (AD 550-800).
Projected spatial frequency distributions for haplogroups H*, H1, H2a, H3, H4, H5a, H6a, H7, H8 and H11
Haplogroup H is the most common mtDNA clade in Europe. It is found in approximately 41% of native Europeans. The lineage is also common in North Africa and the Middle East.
The majority of the European populations have an overall haplogroup H frequency of 40%–50%. Frequencies decrease in the southeast of the continent. The clade reaches 20% in the Near East and Caucasus, 17% in Iran, and <10% in the Arabian Peninsular, Northern India and Central Asia.
Undifferentiated haplogroup H has been found among Palestinians (14%), Syrians (13.6%), Druze (10.6%), Iraqis (9.5%), Somalis (6.7%), Egyptians (5.7% in El-Hayez; 14.7% in Gurna), Saudis (5.3–10%), Soqotri (3.1%), Nubians (1.3%), and Yemenis (0–13.9%).
Among all these clades, the subhaplogroups H1 and H3 have been subject to a more detailed study and would be associated to the Magdalenian expansion from SW Europe c. 13,000 years ago:
Projected spatial frequency distribution of haplogroup H1
H1 encompasses an important fraction of Western European mtDNA lineages, reaching its local peak among contemporary Basques (27.8%). It also occurs at high frequencies elsewhere in the Iberian Peninsula, as well as in the Maghreb (Tamazgha). The haplogroup frequency is above 10% in many other parts of Europe (France, Sardinia, parts of the British Isles, Alps, large portions of Eastern Europe), and surpasses 5% in nearly all of the continent. Its H1b subclade is most common in eastern Europe and NW Siberia.
So far, the highest frequency of the H1 subclade has been found among the Tuareg inhabiting the Fezzan region in Libya (61%). The basal H1* haplogroup is found among the Tuareg inhabiting the Gossi area in Mali (4.76%).
Ancient Guanche (Bimbaches) individuals excavated in Punta Azul, El Hierro, Canary Islands were all found to belong to the H1 maternal subclade. These locally born individuals were dated to the 10th century and carried the H1-16260 haplotype, which is exclusive to the Canary Islands and Algeria.
- Frequencies of haplogroup H1 in the world (Ottoni et al. 2010)
|Region or Population
||No. of subjects
|Tuareg (West Sahel)
|Guineans (Guiné Bissau)
|Volga-Ural Finnic speakers
|Greece (Aegean islands)
|Arabian Peninsula (incl. Yemen, Oman)
|Dubai (United Arab Emirates)
H3 is found throughout the whole of Europe and in the Tamazgha but does not exist in the Far East , and is believed to have originated among Mesolithic hunter-gatherers in south-western Europe between 9 000 and 11 000 years ago. H3 represents the second largest fraction of the H genome after H1 and has a somewhat similar distribution, with peaks in Portugal, Spain, Scandinavia and Finland. It is common in Portugal (12%), Sardinia (11%), Galicia (10%), the Basque country (10%), Ireland (6%), Norway (6%), Hungary (6%) and southwestern France (5%). Studies have suggested haplogroup H3 is highly protective against AIDS progression.
Example of H3 sub-groups are:
- H3a and H3g, found in north-west Europe;
- H3b and H3k, found in the British Isles and Catalonia;
- H3c, found in Western Europe, including among the Basques;
- H3h, found throughout northern Europe, including the remains of Cerdic (519 to 534), King of Wessex;
- H3i found in Ireland and Scotland;
- H3j found in Italy;
- H3v found especially in Germanic countries and;
- H3z found in Atlantic Europe.
The basal H3* haplogroup is found among the Tuareg inhabiting the Gossi area in Mali (4.76%).
H5 may have evolved in West Asia, where it is most frequent and diverse in the Western Caucasus. However, its H5a subclade has a stronger representation in Europe, though at low levels.
H2, H6 and H8
The H2, H6 and H8 haplogroups are somewhat common in Eastern Europe and the Caucasus. They may be the most common H subclades among Central Asians and have also been found in West Asia. H2a5 has been found in the Basque Country, Spain, and in Norway, Ireland and Slovakia. H6a1a1a is common among Ashkenazi Jews.
H4, H7 and H13
These H4, H7 and H13 subhaplogroups are present in both Europe and West Asia; the H13 subclade is also found in the Caucasus. They are quite rare. H4 is often found in Iberia  and along with H13 and H2 account for 42% of H lineages in Egypt.
H11 is commonly found in Central Europe.
H18 occurs on the Arabian Peninsula. 
H20 and H21
These haplogroups are both found in the Caucasus region. H20 also appears at low levels in the Iberian Peninsula (less than 1%), Arabian Peninsula (1%) and Near East (2%).
H22 through H95a
These subclades are found mostly in Europe, South-West Asia and Central Asia.
Phylogenetic tree of haplogroup H
This phylogenetic tree of haplogroup H subclades is based on Build 16(February 2014) of the Phylotree, an internationally accepted standard. The full tree can be viewed at Phylotree.
|mtDNA HG "H" p-tree
Haplogroup H was found as a possible increased risk factor for ischemic cardiomyopathy development.
In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Helena. Stephen Oppenheimer uses the very similar name Helina in his book The Origins of the British.
- ^ a b c d e f g Achilli A, Rengo C, Magri C, et al. (November 2004). "The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool". American Journal of Human Genetics. 75 (5): 910–8. PMC 1182122 . PMID 15382008. doi:10.1086/425590.
- ^ van Oven M, Kayser M (February 2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. PMID 18853457. doi:10.1002/humu.20921.
- ^ Behar DM, van Oven M, Rosset S, Metspalu M, Loogvali E-L Silva NM, Kivisild T, Torroni A, Villems R (2012). "A "Copernican" Reassessment of the Human Mitochondrial DNA Tree from its Root". Am. J. Hum. Genet. 90 (4): 675–84. PMC 3322232 . PMID 22482806. doi:10.1016/j.ajhg.2012.03.002.
- ^ a b c d e Pereira L, Richards M, Goios A, et al. (January 2005). "High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium". Genome Research. 15 (1): 19–24. PMC 540273 . PMID 15632086. doi:10.1101/gr.3182305.
- ^ Richards M, Macaulay V, Hickey E, et al. (November 2000). "Tracing European Founder Lineages in the Near Eastern mtDNA Pool". American Journal of Human Genetics. 67 (5): 1251–76. PMC 1288566 . PMID 11032788. doi:10.1016/S0002-9297(07)62954-1.
- ^ Caramelli D, Milani L, Vai S, et al. (2008). Harpending H, ed. "A 28,000 Years Old Cro-Magnon mtDNA Sequence Differs from All Potentially Contaminating Modern Sequences". PLOS ONE. 3 (7): e2700. PMC 2444030 . PMID 18628960. doi:10.1371/journal.pone.0002700.
- ^ Bernard Secher; Rosa Fregel; José M Larruga; Vicente M Cabrera; Phillip Endicott; José J Pestano; Ana M González. "The history of the North African mitochondrial DNA haplogroup U6 gene flow into the African, Eurasian and American continents". BMC Evolutionary Biology. 14: 109. PMC 4062890 . PMID 24885141. doi:10.1186/1471-2148-14-109.
- ^ 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. PMID 28556824. doi:10.1038/ncomms15694.
- ^ Sirak, Kendra; Frenandes, Daniel; Novak, Mario; Van Gerven, Dennis; Pinhasi, Ron (2016). Abstract Book of the IUAES Inter-Congress 2016 – A community divided? Revealing the community genome(s) of Medieval Kulubnarti using next- generation sequencing. IUAES.
- ^ Ghezzi D, Marelli C, Achilli A, et al. (June 2005). "Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians". European Journal of Human Genetics. 13 (6): 748–52. PMID 15827561. doi:10.1038/sj.ejhg.5201425.
- ^ Bryan Sykes (2001). The Seven Daughters of Eve. London; New York: Bantam Press. ISBN 0393020185.
- ^ "Maternal Ancestry". Oxford Ancestors. Retrieved 7 February 2013.
- ^ "Haplogroup H". Atlas of the Human Journey – The Genographic Project. National Geographic.
- ^ Metspalu M, Kivisild T, Metspalu E, et al. (August 2004). "Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans". BMC Genetics. 5: 26. PMC 516768 . PMID 15339343. doi:10.1186/1471-2156-5-26.
- ^ a b c d e f g h Non, Amy. "ANALYSES OF GENETIC DATA WITHIN AN INTERDISCIPLINARY FRAMEWORK TO INVESTIGATE RECENT HUMAN EVOLUTIONARY HISTORY AND COMPLEX DISEASE" (PDF). University of Florida. Retrieved 3 May 2016.
- ^ 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. PMID 19425100. doi:10.1002/ajpa.21078.
- ^ A. Stevanovitch; A. Gilles; E. Bouzaid; R. Kefi; F. Paris; R. P. Gayraud; J. L. Spadoni; F. El-Chenawi; E. Béraud-Colomb (January 2004). "Mitochondrial DNA Sequence Diversity in a Sedentary Population from Egypt". Annals of Human Genetics. 68 (1): 23–39. PMID 14748828. doi:10.1046/j.1529-8817.2003.00057.x. Retrieved 3 May 2016.
- ^ Černý, Viktor; et al. (2009). "Out of Arabia—the settlement of island Soqotra as revealed by mitochondrial and Y chromosome genetic diversity" (PDF). American journal of Physical Anthropology. 138 (4): 439–447. PMID 19012329. doi:10.1002/ajpa.20960. Retrieved 12 June 2016.
- ^ a b Loogväli EL, Roostalu U, Malyarchuk BA, et al. (November 2004). "Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia". Molecular Biology and Evolution. 21 (11): 2012–21. PMID 15254257. doi:10.1093/molbev/msh209.
- ^ Ottoni et al. 2010, "Mitochondrial Haplogroup H1 in North Africa: An Early Holocene Arrival from Iberia", Plosone
- ^ Ottoni et al., "Table of frequencies of haplogroup H1 in the world", Plosone
- ^ a b 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: 915–923. PMC 2987384 . PMID 20234393. doi:10.1038/ejhg.2010.21. Retrieved 23 May 2016.
- ^ Ordóñez, A. C., Fregel, R., Trujillo-Mederos, A., Hervella, M., de-la-Rúa, C., & Arnay-de-la-Rosa, M. (2017). "Genetic studies on the prehispanic population buried in Punta Azul cave (El Hierro, Canary Islands)". Journal of Archaeological Science. 78: 20–28. doi:10.1016/j.jas.2016.11.004. Retrieved 8 February 2017.
- ^ Achilli A, Rengo C, Magri C, et al. (November 2004). "The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool". Am. J. Hum. Genet. 75: 910–8. PMC 1182122 . PMID 15382008. doi:10.1086/425590.
- ^ [www.eupedia.com] Euopedia
- ^ a b [www.eupedia.com] Access date 2015/10/02
- ^ Hendrickson SL, Hutcheson HB, Ruiz-Pesini E, et al. (November 2008). "Mitochondrial DNA Haplogroups influence AIDS Progression". AIDS. 22 (18): 2429–39. PMC 2699618 . PMID 19005266. doi:10.1097/QAD.0b013e32831940bb.
- ^ [www.familytreedna.com] Access date 2015/10/02
- ^ a b U. Roostalu et al, Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective, Molecular Biology and Evolution, vol. 24, no. 2 (2007), pp. 436–448.
- ^ a b c Alvarez-Iglesias V, Mosquera-Miguel A, Cerezo M, et al. (2009). MacAulay V, ed. "New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0". PLOS ONE. 4 (4): e5112. PMC 2660437 . PMID 19340307. doi:10.1371/journal.pone.0005112.
- ^ van Oven M, Kayser M (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Hum Mutat. 30 (2): E386–E394. PMID 18853457. doi:10.1002/humu.20921.
- ^ [www.academia.edu]
- ^ Bekada, Fregel, Cabrera, Larruga, Pestano, Benhamamouch and. González . (2013). "Introducing the Algerian Mitochondrial DNA and Y-Chromosome Profiles into the North African Landscape". PLOS ONE. doi:10.1371/journal.pone.0056775.
- ^ a b Ennafaa H, Cabrera VM, Abu-Amero KK, et al. (2009). "Mitochondrial DNA haplogroup H structure in North Africa". BMC Genetics. 10: 8. PMC 2657161 . PMID 19243582. doi:10.1186/1471-2156-10-8.
- ^ "PhyloTree.org mtDNA subtree R0".
- ^ Fernández-Caggiano, Maria; Javier Barallobre-Barreiro; Ignacio Rego-Pérez; María G. Crespo-Leiro; María Jesus Paniagua; Zulaika Grillé; Francisco J. Blanco; Nieves Doménech (2012). "Mitochondrial Haplogroups H and J: Risk and Protective Factors for Ischemic Cardiomyopathy". PLOS ONE. 7 (8): e44128. PMC 3429437 . PMID 22937160. doi:10.1371/journal.pone.0044128. Retrieved 16 April 2014.
- Haplogroup H
- Haplogroup H1
- Hope The H1 mtDNA Haplogroup Project