Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated in Southwest Asia, near present day Syria,[1] 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, 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.
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.[4] 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.[5] 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 is a descendant of macro-haplogroup N 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.[6]
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).[9]
Distribution
Haplogroup H is the most common mtDNA clade in Europe.[10] It is found in approximately 41% of native Europeans.[11][12] The lineage is also common in North Africa and the Middle East.[13]
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.[1][14]
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:[19]
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.[1] Its H1b subclade is most common in eastern Europe and NW Siberia.[20]
As of 2010[update], the highest frequency of the H1 subclade has been found among the Tuareg inhabiting the Fezzan region in Libya (61%).[21] The basal H1* haplogroup is found among the Tuareg inhabiting the Gossi area in Mali (4.76%).[22]
The rare H1cb subclade is concentrated among Fulani groups inhabiting the Sahel.[23]
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%).[24] 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%).[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.[26]
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
Mozabite
9.8
80
Siwas (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
Yakuts
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
Karachay-Balkars
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
Turks
3.3
360
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
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
H3 is found throughout the whole of Europe and in the Maghreb,[1] 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%).[1][27][28] Studies have suggested haplogroup H3 is highly protective against AIDS progression.[29]
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.[31]
H2, H6 and H8
The H2, H6 and H8 haplogroups are somewhat common in Eastern Europe and the Caucasus.[19] They may be the most common H subclades among Central Asians and have also been found in West Asia.[20]H2a5 has been found in the Basque Country, [32] and in Norway, Ireland and Slovakia.[3]H6a1a1a is common among Ashkenazi Jews.[33]
H4
H4 is often found in the Iberian Peninsula,[32]Britain and Ireland at levels between 1-5% 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.[34]
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.[45]
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).[46]
Italians are notable carriers of H12 and its two branches. H12a has been detected in such regions as Sicily[47] and Calabria.[48]
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[49] and H13a2a and H13a2b are found in Armenians in Armenia.[50][51]
H14
The root level of H14 is found in northwestern Europeans, such as in Ireland.[52]
H15 includes the base level and the branches H15a and H15b. H15a1b is present in Greeks.[63]H15b is present in Armenians, Druze, Ashkenazi Jews, Danes, and other peoples of Europe and the Near East.[64]
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.[5]
These haplogroups are both found in the Caucasus region.[31] H20 also appears at low levels in the Iberian Peninsula (less than 1%), Arabian Peninsula (1%) and Near East (2%).[70]
H22 through H95a
These subclades are found mostly in Europe, South-West Asia and Central Asia.
This phylogenetic tree of haplogroup H subclades is based on Build 17 (February 2016) of the Phylotree, an internationally accepted standard.[82] The full tree can be viewed at Phylotree.
^Kujanová M, Pereira L, Fernandes V, Pereira JB, Cerný V (October 2009). "Near eastern neolithic genetic input in a small oasis of the Egyptian Western Desert". American Journal of Physical Anthropology. 140 (2): 336–46. doi:10.1002/ajpa.21078. PMID19425100.
^Stevanovitch A, Gilles A, Bouzaid E, Kefi R, Paris F, Gayraud RP, et al. (January 2004). "Mitochondrial DNA sequence diversity in a sedentary population from Egypt". Annals of Human Genetics. 68 (Pt 1): 23–39. doi:10.1046/j.1529-8817.2003.00057.x. PMID14748828. S2CID44901197.
^Cerný V, Pereira L, Kujanová M, Vasíková A, Hájek M, Morris M, Mulligan CJ (April 2009). "Out of Arabia-the settlement of island Soqotra as revealed by mitochondrial and Y chromosome genetic diversity". American Journal of Physical Anthropology. 138 (4): 439–47. doi:10.1002/ajpa.20960. PMID19012329.
^Kulichová I, Fernandes V, Deme A, Nováčková J, Stenzl V, Novelletto A, et al. (October 2017). "Internal diversification of non-Sub-Saharan haplogroups in Sahelian populations and the spread of pastoralism beyond the Sahara". American Journal of Physical Anthropology. 164 (2): 424–434. doi:10.1002/ajpa.23285. PMID28736914.
^Alejandra 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. Bibcode:2017JArSc..78...20O. doi:10.1016/j.jas.2016.11.004.
^Faustino de Carvalho A (2014). Bom Santo cave (Lisbon) and the middle neolithic societies of southern Portugal. Faro: Universidade do Algarvede. ISBN9789899766631. OCLC946308166.