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In
human mitochondrial genetics,
Haplogroup H is a
human mitochondrial DNA (mtDNA) haplogroup.
Origin
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 H. 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. The haplotype was different from all persons that had handled the Paglicci 23 remains since their discovery.
Distribution
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.
[ ]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
:
Subhaplogroup H1 encompasses an important fraction of Western European mtDNA, reaching its peak among
Basques (27.8%) and being also very important among other Iberians, North Africans and
Sardinians. It is anyhow above 10% in many other parts of Europe (France, British islands, 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.
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 importance 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:
Subhaplogroup H5 may have evolved in West Asia, where is more frequent in its non-derived form. But its subclade
H5a is most common in the
Central European plain and in the
Franco Cantabrian Region.
Subhaplogroups H2, H6 and H8 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.
has been found only in Basque Country, Spain.
are present in both Europe and West Asia, the latter being also found in the Caucasus. They are quite rare.
is found mostly in
Iberia.
[ ]Subhaplogroup H11 is commonly found in Central Europe.
occurs on the Arabian Peninsula.
are both found in the Caucasus region.
Subclades
Tree
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.
Popular Culture
In his popular book
The Seven Daughters of Eve,
Bryan Sykes named the originator of this mtDNA haplogroup
Helena.
See also
