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 H2a2a (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. 20-25,000 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 25,000 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 H is the most common mtDNA haplogroup in Europe+. Haplogroup H is found in approximately 41% of native Europeans. 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+.
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 encompasses an important fraction of Western European mtDNA, reaching its local peak among contemporary Basques+ (27.8%) and appearing at a high frequency among other Iberians+ and North Africa+ns. Its frequency is above 10% in many other parts of Europe (France, Sardinia, 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. So far, the highest frequency of H1 - 61%- has been found among the Tuareg+ of the Fezzan+ region in Libya+.
; Frequencies of haplogroup H1 in the world (Ottoni et al. 2010)
! Region or Population
! No. of subjects
| '''Africa'''| |
| Libyan Tuareg|61|129
| Tuareg (West Sahel)|23.3|90
| Berbers (Morocco)|20.2|217
| Berbers (Tunisia)|13.4|276
| Tunisia |10.6|269
| Siwas (Egypt) |1.1|184
| Western Sahara|14.8|128
| Senegal |0|100
| Fulani (Chad-Cameroon)|0|186
| Chad |0|77
| Buduma (Niger)|0|30
| Amhara (Ethiopia)|0|90
| Oromo (Ethiopia)|0|117
| Sierra Leone|0|155
| Guineans (Guiné Bissau)|0|372
| Kikuyu (Kenya)|0|24
| '''Asia'''| |
| Central Asia|0.7|445
| Yakuts |1.7|58
| '''Caucasus''' | |
| Caucasus (north) |8.8|68
| Caucasus (south)|2.3|132
| Northwestern Caucasus|4.7|234
| '''Europe''' | |
| Andalusia |24.3|103
| Basques (Spain) |27.8|108
| Pasiegos (Cantabria) |23.5|51
| 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
| Hungary |11.3|303
| Czech Republic |10.8|102
| Netherlands |8.8|34
| Greece (Aegean islands) |1.6|247
| Greece (mainland) |6.3|79
| Macedonia |7.1|252
| Croatia |8.3|84
| 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
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.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.
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 in Basque Country, Spain., and in Norway+, Ireland+ and Slovakia+.
These haplogroups are present in both Europe and West Asia, H13 being also found in the Caucasus. They are quite rare. '''H4''' is often found in Iberia+.
H11 is commonly found in Central Europe.
H18 occurs on the Arabian Peninsula.
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%).
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.
**Mannis van Oven's
** at Family Tree DNA+
**National Geographic's , from ''National Geographic+''
**mtDNA article at SNPedia+
**http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1274484/table/TB3/ Haplogroup and Subcluster Frequencies for European Populations