Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. The clade was believed to have originated in West Asia, near present-day Syria, around 20,000 to 25,000 years ago. However, a specimen has been found in South Italy from 28,000 years ago, in Paglicci Cave. 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, and later migrations from Iberia suggest that the clade reached Europe before the Last Glacial Maximum. The haplogroup has also spread from West Asia to parts of Africa, Siberia and Inner Asia. Today, around 40% of all maternal lineages in Europe belong to haplogroup H.
Origin 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. Several independent studies conclude that haplogroup H probably evolved in Western Asia c. 25,000 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 HVR1 also appears in U or HV, because there are no HVR1 mutations that separate CRS from the haplogroup R founder. Haplogroup HV derives from the haplogroup R0, which in turn derives from haplogroup R, which is a descendant of macro-haplogroup N, which like its sibling M is a descendant of haplogroup L3.
MtDNA H had frequency of 19% among Neolithic Early European Farmers and virtually absent among Mesolithic European hunter gatherers.
MtDNA H was also present in the Cucuteni–Trypillia culture.
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).
Distribution
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%, with frequencies decreasing in the southeast. The clade reaches 20% in the Near East and Caucasus, 17% in Iran, and <10% in the Arabian Peninsula, 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%).
Subclades 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:
H1
H1 encompasses an important fraction of Western European mtDNA lineages, reaching its local peak among contemporary Basques (27.8%). The clade 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.
, 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%).
The rare H1cb subclade is concentrated among Fulani groups inhabiting the Sahel.
Haplogroup H has been found in various fossils that were analysed for ancient DNA, including specimens associated with the Linearbandkeramik culture (H1e, Halberstadt-Sonntagsfeld, 1/22 or ~5%; H1 or H1au1b, Karsdorf, 1/2 or 50%), Germany Middle Neolithic (H1e1a, Esperstedt, 1/1 or 100%), Iberia Early Neolithic (H1, El Prado de Pancorbo, 1/2 or 50%), Iberia Middle Neolithic (H1, La Mina, 1/4 or 25%), and Iberia Chalcolithic (H1t, El Mirador Cave, 1/12 or ~8%). Haplogroup H has been observed in ancient Guanche fossils excavated in Gran Canaria and Tenerife on the Canary Islands, which have been radiocarbon-dated to between the 7th and 11th centuries CE. At the Tenerife site, these clade-bearing individuals were found to belong to the H1cf subclade (1/7; ~14%); at the Gran Canaria site, the specimens carried the H2a subhaplogroup (1/4; 25%). Additionally, 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 H1% No. of subjects Africa Libyan Tuareg61129 Tuareg (West Sahel)23.390 Berbers (Morocco)20.2217 Morocco12.2180 Berbers (Tunisia)13.4276 Tunisia 10.6269 Mozabite9.880 Siwas (Egypt) 1.1184 Western Sahara14.8128 Mauritania6.9102 Senegal 0100 Fulani (Chad–Cameroon)0186 Cameroon0142 Chad 077 Buduma (Niger)030 Nigeria069 Ethiopia082 Amhara (Ethiopia)090 Oromo (Ethiopia)0117 Sierra Leone0155 Guineans (Guiné Bissau)0372 Mali083 Kikuyu (Kenya)024 Benin0192 Asia Central Asia0.7445 Pakistan0100 Yakuts 1.758 Caucasus Caucasus (north) 8.868 Caucasus (south)2.3132 Northwestern Caucasus4.7234 Armenians2.3175 Daghestan2.5269 Georgians1193 Karachay-Balkars4.4203 Ossetians2.4296 Europe Andalusia 24.3103 Basques (Spain) 27.8108 Catalonia13.9101 Galicia17.7266 Pasiegos (Cantabria) 23.551 Portugal25.5499 Spain (miscellaneous) 18.9132 Italy (north) 11.5322 Italy (center) 6.3208 Italy (south)8.7206 Sardinia 17.9106 Sicily 1090 Finland 1878 Volga-Ural Finnic speakers13.6125 Basques (France) 17.540 Béarnaise 14.827 France12.3106 Estonia16.7114 Saami057 Lithuania1.7180 Hungary 11.3303 Czech Republic 10.8102 Ukraine9.9191 Poland9.386 Russia13.5312 Austria10.62487 Germany6100 Romania9.4360 Netherlands 8.834 Greece (Aegean islands) 1.6247 Greece (mainland) 6.379 North Macedonia 7.1252 Albania2.9105 Turks3.3360 Balkans5.4111 Croatia 8.384 Slovaks7.6119 Slovak (East)16.8137 Slovak (West)14.270 Middle East Arabian Peninsula094 Arabian Peninsula (incl. Yemen, Oman) 0.8493 Druze 3.458 Dubai (United Arab Emirates)0.4249 Iraq1.9206 Jordanians1.7173 Lebanese4.2167 Syrians0159
H3 H3 is found throughout the whole of Europe and in the Maghreb, 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%). Access date 2015/10/02 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 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
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, and in Norway, Ireland and Slovakia. H6a1a1a is common among Ashkenazi Jews.
H4 H4 is often found in the Iberian Peninsula, Britain and Ireland at levels between 1 and 5% of the population. It is associated with Neolithic migrations.
H4 and H13, along with H2 account for 42% of the hg H lineages in Egypt.
H7 The H7 subhaplogroup is present in both Europe and West Asia. Its subclade H7c1 is present in Druze people and in Saudi Arabia. H7c2 is present in such peoples as Ashkenazi Jews, Sardinians, and Dutch people. H7e is present in Ashkenazi Jews, Germans, Sardinians, and others. H7a1b is found today in Scotland, England, Denmark, Finland and Sardinia. H7b1 is found in Lithuanians.
H9 H9 is present in Yemenis. The subclade H9a exists in Welsh people, Calabrians and Crimean Karaites.Homo sapiens haplogroup H9a mitochondrion, complete genome GenBank: OQ981914.1. H9a samples were recovered from two ancient people in Lebanon.
H10 Haplogroup H10 is subclade which came into existence between 6,300 and 10,900 years ago. Its descendant branches are H10a, H10b, H10c, H10d, H10e, H10f, H10g, and H10h.
Haplogroup H10e has been found at a Neolithic site, namely the Bom Santo cave near Lisbon. This is the oldest sample of H10 which has ever been found and it has been dated to 3735 BCE (±45 years).
H11 H11 is commonly found in Central Europe.
H12 Italians are notable carriers of H12 and its two branches. H12a has been detected in such regions as Sicily and Calabria.
H13 The H13 subhaplogroup is present in both Europe and West Asia. H13 is also found in the Caucasus; H13c was found in a 9,700 year old sample in Mesolithic Georgia and H13a2a and H13a2b are found in Armenians in Armenia. H13a1a2a and H13a1d are present among Lithuanians.
H14 The root level of H14 is found in northwestern Europeans, such as in Ireland.
Its subclade H14a is encountered among such populations as Armenians from Turkey,Homo sapiens isolate 40_Mu mitochondrion, complete genome GenBank: MK491393.1. Sardinians from Italy,Homo sapiens isolate csct_007727 mitochondrion, complete genome GenBank: KY410191.1. and Persian Jews and Iraqi Jews. The branch H14a2 is present among Romani people from SpainHomo sapiens isolate M943_H14a2_Roma mitochondrion, complete genome GenBank: KF055878.1. and CroatsHomo sapiens haplogroup H14a2 mitochondrion, complete genome GenBank: MG786850.1. and is common in Iran.
Its subclade H14b has a presence in many European and West Asian populations including Assyrian people,Homo sapiens isolate Assyrian_C188_H14b mitochondrion, complete genome GenBank: MK217254.1. PersiansHomo sapiens haplogroup H14b* mitochondrion, complete genome GenBank: KC911548.1. and Armenians from Iran,Homo sapiens haplogroup H14b mitochondrion, complete genome GenBank: KX784190.1. and people in Tuscany (central Italy),Homo sapiens isolate 33151 mitochondrion, complete genome GenBank: KY399186.1. Switzerland, Germany, Ireland, Spain, and Qatar. The branch H14b1 is especially prevalent in France but also found in neighboring Monaco and in Scotland and is also found among Lithuanians. The branch H14b3 has been found in Armenians from ArtsakhHomo sapiens isolate Artsakh_69 haplogroup H14b3 mitochondrion, complete genome GenBank: MF362858.1. and people from Armenia, Turkey, Saudi Arabia, Italy, and Scotland. H14b4 is in Italy and Germany.
H15 H15 includes the base level and the branches H15a and H15b. H15a1b is present in Greeks. H15b is present in Armenians, Druze, Ashkenazi Jews, Danes, and other peoples of Europe and the Near East.
H16