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Haplogroup H (mtDNA): Map

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}}In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA 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 Cavemarker (Apuliamarker, Italymarker) 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.=""></10%>

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.

Subhaplogroup H3 represents a smaller fraction of European genome than H1 but has a somewhat similar distribution with peak among Basques (13.9%), Galiciansmarker (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. H2a5 has been found only in Basque Country, Spain.

Subhaplogroups H4, H7 and H13 are present in both Europe and West Asia, the latter being also found in the Caucasus. They are quite rare. H4 is found mostly in Iberiamarker.

Subhaplogroup H11 is commonly found in Central Europe.

Subhaplogroups H18 occurs on the Arabian Peninsula.

Subhaplogroups H20 and H21 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



References

  1. L. Pereira et al., High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Cold Spring Harbor Laboratory Press, 2005.
  2. M. Richards et al., Tracing European Founder Lineages in the Near Eastern mtDNA Pool. AJHG, 2000.
  3. D. Caramelli et al., A 28,000 Years Old Cro-Magnon mtDNA Sequence Differs from All Potentially Contaminating Modern Sequences. PLOS ONE, 2008
  4. Ghezzi et al. (2005), Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians, European Journal of Human Genetics (2005) 13, 748–752.
  5. Atlas of the Human Journey - The Genographic Project
  6. A. Achilli et al., The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool. AJHG, 2004.
  7. Eva-Liis Loogväli et al., Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia. Society for Molecular Biology and Evolution, 2004.
  8. Mitochondrial DNA haplogroups influence AIDS progression.
  9. http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0005112


External links



  • Haplogroup H1
    • Hope The H1 mtDNA Haplogroup Project



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