Haplogroup H (mtDNA)

Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated in Southwest Asia,^[1] around 20,000-25,000 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 between 33,000 and 26,000 years ago, and later migrations from Iberia suggest it reached Europe before the Last Glacial Maximum. The clade has also spread to Siberia and inner Asia. Today, about 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 (human mitochondrial sequences should now be compared with the ancestral Reconstructed Sapiens Reference Sequence (RSRS)).^[3] 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.^[4][5] 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.^[1][4]

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.^[6] This once was believed to indicate haplogroup H, but researchers now recognize that CRS can also appear in U or HV. 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.

Haplogroup H has also been found among Iberomaurusian specimens dating from the Epipaleolithic at the Taforalt prehistoric site.^[7]

Haplogroup H has been observed among specimens at the mainland cemetery in Kulubnarti, Sudan, which date from the Early Christian period (AD 550-800).^[8]

Distribution

Projected spatial frequency distributions for haplogroups H*, H1, H2a, H3, H4, H5a, H6a, H7, H8 and H11.

Haplogroup H is the most common mtDNA clade in Europe.^[9] It is found in approximately 41% of native Europeans.^[10][11] The lineage is also common in North Africa and the Middle East.^[12]

The majority of the European populations have an overall haplogroup H frequency of 40%–50%. Frequencies decrease in the southeast of the continent. The clade reaches 20% in the Near East and Caucasus, 17% in Iran, and <10% in the Persian Gulf, Northern India and Central Asia.^[1][13]

Undifferentiated haplogroup H has been found among Palestinians (14%),^[14] Syrians (13.6%),^[14] Druze (10.6%),^[14] Iraqis (9.5%),^[14] Somalis (6.7%),^[14] Egyptians (5.7% in El-Hayez;^[15] 14.7% in Gurna^[16]), Saudis (5.3%-10%),^[14] Socotri (3.1%),^[17] Nubians (1.3%),^[14] and Yemenis (0%-13.9%).^[14]

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:^[4]

H1

Projected spatial frequency distribution of haplogroup H1.

H1 encompasses an important fraction of Western European mtDNA lineages, reaching its local peak among contemporary Basques (27.8%). It also occurs at high frequencies elsewhere in the Iberian Peninsula, as well as in the Maghreb. The haplogroup 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.^[1] Its subclade H1b is most common in eastern Europe and NW Siberia.^[18]

So far, the highest frequency of H1 has been found among the Tuareg inhabiting the Fezzan region in Libya (61%).^[19][20] The basal H1* haplogroup is found among the Tuareg inhabiting the Gossi area in Mali (4.76%).^[21]

Frequencies of haplogroup H1 in the world (Ottoni et al. 2010)

H3

H3 is found throughout the whole of Europe and in the Maghreb but does not exist in the Far East,^[22] 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][23][24] Studies have suggested haplogroup H3 is highly protective against AIDS progression.^[25]

Example of H3 sub-groups are:^[24]

• 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, but was also found in Cerdic of Wessex (519 to 534), King of West Saxons^[26]
• H3i found in Ireland and Scotland
• H3j found in Italy
• H3v found especially in Germanic countries
• H3z found in Atlantic Europe

The basal H3* haplogroup is found among the Tuareg inhabiting the Gossi area in Mali (4.76%).^[21]

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.^[27]

H2, H6 and H8

The H2, H6 and H8 haplogroups are somewhat common in Eastern Europe and the Caucasus.^[4] They may be the most common H subclades among Central Asians and have also been found in West Asia.^[18] H2a5 has been found in the Basque Country, Spain,^[28] and in Norway, Ireland and Slovakia.^[29] H6a1a1a is common among Ashkenazi Jews.^[30]

H4, H7 and H13

These H4, H7 and H13 subhaplogroups are present in both Europe and West Asia; the H13 subclade is also found in the Caucasus. They are quite rare.^[4] H4 is often found in Iberia ^[28] and along with H13 and H2 account for 42% of H lineages in Egypt.^[31]

H11

H11 is commonly found in Central Europe.^[28]

H18

H18 occurs on the Arabian Peninsula. ^[32]

H20 and H21

These haplogroups are both found in the Caucasus region.^[27] H20 also appears at low levels in the Iberian Peninsula (less than 1%), Arabian Peninsula (1%) and Near East (2%).^[32]

H22 through H95a

These subclades are found mostly in Europe, South-West Asia and Central Asia.

Tree

Phylogenetic tree of haplogroup H

This phylogenetic tree of haplogroup H subclades is based on Build 16(February 2014) of the Phylotree, an internationally accepted standard.^[33] The full tree can be viewed at Phylotree.

Genetic traits

Haplogroup H was found as a possible increased risk factor for ischemic cardiomyopathy development.^[34]

Popular culture

In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Helena. Stephen Oppenheimer uses the very similar name Helina in his book The Origins of the British.

See also

• Genealogical DNA test
• Genetic genealogy
• Human mitochondrial genetics
• Population genetics
• SNPedia

References

External links

• General
  • Ian Logan's Mitochondrial DNA Site
  • Mannis van Oven's Phylotree
• Haplogroup H
  • mtDNA Haplogroup H Project at Family Tree DNA
  • National Geographic's Spread of Haplogroup H, from National Geographic
  • mtDNA Haplogroup H article at SNPedia
  • Amelia's Helena
  • Loogväli EL, Roostalu U, Malyarchuk BA, et al. (November 2004). "Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia". Molecular Biology and Evolution. 21 (11): 2012–21. doi:10.1093/molbev/msh209. PMID 15254257. 
  • Genebase's Tutorials on mtDNA Haplogroup H
  • Genebase's Phylogenetic tree of mtDNA Haplogroup H
  • Genebase's Geographical distribution of mtDNA Haplogroup H
  • Haplogroup and Subcluster Frequencies for European Populations: Helgason A, Hickey E, Goodacre S, et al. (March 2001). "mtDna and the islands of the North Atlantic: estimating the proportions of Norse and Gaelic ancestry". Am. J. Hum. Genet. 68: 723–37. doi:10.1086/318785. PMC 1274484. PMID 11179019. 
  • Danish Demes Regional DNA Project: mtDNA Haplogroup H
  • Survey/study open to men who are in any branch of Haplogroup H
  • Survey/study open to women who are in any branch of Haplogroup H
• Haplogroup H1
  • Hope The H1 mtDNA Haplogroup Project