Haplogroup H (mtDNA)
Haplogroup H Possible time of origin 25,000-30,000 YBP Possible place of origin Southwest Asia Ancestor HV Descendants 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) Defining mutations A2706A, C7028C
Haplogroup H is a descendant of haplogroup HV. The Cambridge Reference Sequence (CRS), the human mitochondrial sequence to which all other sequences are compared, belongs to haplogroup H2a2a. Several independent studies conclude that haplogroup H probably evolved in West Asia c. 30,000 years ago having arrived in Europe c. 20-25,000 years ago, spreading rapidly to the southwest of the continent. This would make its arrival roughly contemporary with Gravettian culture. They are also coincident in that 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 it was published that the ancient mtDNA from an individual called Paglicci 23 whose remains were dated to 28,000 years ago and excavated from Paglicci Cave (Apulia, Italy) had been found to be identical to the Cambridge Reference Sequence in HVR1, which was once assumed to invariably indicate haplogroup H, but it is now recognized that CRS can also appear in U or HV.
Haplogroup H is the most common mtDNA haplogroup in Europe. About one half of Europeans are of mtDNA haplogroup H. The haplogroup 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, reaching 20% in the Near East and Caucasus, 17% in Iran, and <10% in the Persian Gulf, Northern India and Central Asia.
H1 encompasses an important fraction of Western European mtDNA, reaching its local peak among Basques (27.8%) and being also very important among other Iberians, North Africans and Sardinians. It is above 10% in many other parts of Europe (France, British Isles, Alps, large portions of Eastern Europe) and above 5% in nearly all the continent. Its subclade H1b is most common in Eastern Europe and NW Siberia. The highest frequency of H1 found so far in the world (61%) were observed in the Tuareg of the Fezzan region in Libya.
- Frequencies of haplogroup H1 in the world (Ottoni et al. 2010)
Region or Population H1% No. of subjects Africa Libyan Tuareg 61 129 Tuareg (West Sahel) 23.3 90 Berbers (Morocco) 20.2 217 Morocco 12.2 180 Berbers (Tunisia) 13.4 276 Tunisia 10.6 269 Algeria 9.8 80 Berbers (Egypt) 1.1 184 Western Sahara 14.8 128 Mauritania 6.9 102 Senegal 0 100 Fulani (Chad-Cameroon) 0 186 Cameroon 0 142 Chad 0 77 Buduma (Niger) 0 30 Nigeria 0 69 Ethiopia 0 82 Amhara (Ethiopia) 0 90 Oromo (Ethiopia) 0 117 Sierra Leone 0 155 Guineans (Guiné Bissau) 0 372 Mali 0 83 Kikuyu (Kenya) 0 24 Benin 0 192 Asia Central Asia 0.7 445 Pakistan 0 100 Yakutia 1.7 58 Caucasus Caucasus (north) 8.8 68 Caucasus (south) 2.3 132 Northwestern Caucasus 4.7 234 Armenians 2.3 175 Daghestan 2.5 269 Georgians 1 193 Karatchaians-Balkarians 4.4 203 Ossetians 2.4 296 Europe Andalusia 24.3 103 Basques (Spain) 27.8 108 Catalonia 13.9 101 Galicia 17.7 266 Pasiegos (Cantabria) 23.5 51 Portugal 25.5 499 Spain (miscellaneous) 18.9 132 Italy (north) 11.5 322 Italy (center) 6.3 208 Italy (south) 8.7 206 Sardinia 17.9 106 Sicily 10 90 Finland 18 78 Volga-Ural Finnic speakers 13.6 125 Basques (France) 17.5 40 Béarnaise 14.8 27 France 12.3 106 Estonia 16.7 114 Saami 0 57 Lithuania 1.7 180 Hungary 11.3 303 Czech Republic 10.8 102 Ukraine 9.9 191 Poland 9.3 86 Russia 13.5 312 Austria 10.6 2487 Germany 6 100 Romania 9.4 360 Netherlands 8.8 34 Greece (Aegean islands) 1.6 247 Greece (mainland) 6.3 79 Macedonia 7.1 252 Albania 2.9 105 Balkans 5.4 111 Croatia 8.3 84 Slovaks 7.6 119 Slovak (East) 16.8 137 Slovak (West) 14.2 70 Middle East Arabian Peninsula 0 94 Arabian Peninsula (incl. Yemen, Oman) 0.8 493 Turks 3.3 360 Druze 3.4 58 Dubai (United Arab Emirates) 0.4 249 Iraq 1.9 206 Jordanians 1.7 173 Lebanese 4.2 167 Syrians 0 159
H3 represents a smaller fraction of European genome than H1 but has a somewhat similar distribution with peak among Basques (13.9%), Galicians (8.3%) and Sardinians (8.5%). Its frequency decreases towards the northeast of the continent, though. Studies have suggested haplogroup H3 is highly protective against AIDS progression.
The remaining subclades are much less frequent:
H5 may have evolved in West Asia, where it is most frequent and diverse in the Western Caucasus, but its subclade H5a has a stronger representation in Europe, though at low levels.
H2, H6 and H8
These 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 only in Basque Country, Spain.
H4, H7 and H13
H11 is commonly found in Central Europe.
H18 occurs on the Arabian Peninsula. 
H20 and H21
This phylogenetic tree of haplogroup H subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation and subsequent published research.
mtDNA HG "H" p-tree
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.
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 A S R I W X Y C Z B F R0 pre-JT P U HV JT K H V J T
- ^ 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. doi:10.1086/425590. PMC 1182122. PMID 15382008. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1182122.
- ^ a b van Oven M, Kayser M (February 2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457.
- ^ 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. doi:10.1101/gr.3182305. PMC 540273. PMID 15632086. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=540273.
- ^ 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. doi:10.1016/S0002-9297(07)62954-1. PMC 1288566. PMID 11032788. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1288566.
- ^ Caramelli D, Milani L, Vai S, et al. (2008). Harpending, Henry. ed. "A 28,000 Years Old Cro-Magnon mtDNA Sequence Differs from All Potentially Contaminating Modern Sequences". PLoS ONE 3 (7): e2700. doi:10.1371/journal.pone.0002700. PMC 2444030. PMID 18628960. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2444030.
- ^ 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. doi:10.1038/sj.ejhg.5201425. PMID 15827561.
- ^ "Haplogroup H". Atlas of the Human Journey - The Genographic Project. National Geographic. https://genographic.nationalgeographic.com/genographic/atlas.html?card=mm024.
- ^ 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. doi:10.1186/1471-2156-5-26. PMC 516768. PMID 15339343. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=516768.
- ^ 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. doi:10.1093/molbev/msh209. PMID 15254257.
- ^ Ottoni et al. 2010, Mitochondrial Haplogroup H1 in North Africa: An Early Holocene Arrival from Iberia
- ^ See table of frequencies of haplogroup H1 in the world, Ottoni et al. 2010
- ^ Hendrickson SL, Hutcheson HB, Ruiz-Pesini E, et al. (November 2008). "Mitochondrial DNA Haplogroups influence AIDS Progression". AIDS 22 (18): 2429–39. doi:10.1097/QAD.0b013e32831940bb. PMC 2699618. PMID 19005266. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2699618.
- ^ 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, Vincent. ed. "New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0". PloS ONE 4 (4): e5112. doi:10.1371/journal.pone.0005112. PMC 2660437. PMID 19340307. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2660437.
- ^ a b Ennafaa H, Cabrera VM, Abu-Amero KK, et al. (2009). "Mitochondrial DNA haplogroup H structure in North Africa". BMC Genetics 10: 8. doi:10.1186/1471-2156-10-8. PMC 2657161. PMID 19243582. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2657161.
- Haplogroup H
- Rebekah A. Canada's mtDNA Haplogroup H Project at Family Tree DNA
- National Geographic's Spread of Haplogroup H, from National Geographic
- mtDNA Haplogroup H article at SNPedia
- Amelia's Helena
- 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. doi:10.1093/molbev/msh209. PMID 15254257.
- Genebase's Tutorials on mtDNA Haplogroup H
- Genebase's Phylogenetic tree of mtDNA Haplogroup H
- Genebase's Geographical distribution of mtDNA Haplogroup H
- http://www.journals.uchicago.edu/AJHG/journal/issues/v68n3/002146/002146.tb3.html[dead link] Haplogroup and Subcluster Frequencies for European Populations
- Danish Demes Regional DNA Project: mtDNA Haplogroup H
- Survey/study open to men who are in any branch of Haplogroup H
- Survey/study open to women who are in any branch of Haplogroup H
- Haplogroup H1
- Hope The H1 mtDNA Haplogroup Project
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