Haplogroup H (mtDNA)

Haplogroup H
Possible time of origin 25,000-30,000 YBP
Possible place of origin Southwest Asia[1]
Ancestor HV[1]
Descendants H* lineages, H1, H2, H3, H4, H5'36, H6, H7, H8, H9, H10, H11, H12, H13, H14, H15, H16, H18, H19, H20, H22, H23, H24, H25, H26, H28, H29, H31, H32, H33, H34, H35, H37, H38, H39, 16129(H17+H27), 16129(H21+H30)
Defining mutations A2706A, C7028C[2]

In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup that likely originated in Southwest Asia[1] 25,000-30,000 YBP.

Contents

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 H2a2a. 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.[3][4] 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.[1][3]

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,[5] which was once assumed to invariably indicate haplogroup H, but it is now recognized that CRS can also appear in U or HV.

Distribution

Haplogroup H is the most common mtDNA haplogroup in Europe.[6] About one half of Europeans are of mtDNA haplogroup H. The haplogroup is also common in North Africa and the Middle East.[7] 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.[1][8]

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:[3]

H1

H1 encompasses an important fraction of Western European mtDNA, reaching its local peak among Basques (27.8%) and being also very important among other Iberians, North Africans and Sardinians. It is above 10% in many other parts of Europe (France, 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.[9] The highest frequency of H1 found so far in the world (61%) were observed in the Tuareg of the Fezzan region in Libya.[10][11]

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
Algeria 9.8 80
Berbers (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
Yakutia 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
Karatchaians-Balkarians 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
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
Turks 3.3 360
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 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.[1] Studies have suggested haplogroup H3 is highly protective against AIDS progression.[12]

The remaining subclades are much less frequent:

H5

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.[13]

H2, H6 and H8

These haplogroups are somewhat common in Eastern Europe and the Caucasus.[3] They may be the most common H subclades among Central Asians and have also been found in West Asia.[9] H2a5 has been found only in Basque Country, Spain.[14]

H4, H7 and H13

These haplogroups are present in both Europe and West Asia, H13 being also found in the Caucasus. They are quite rare.[3] H4 is often found in Iberia.[14]

H11

H11 is commonly found in Central Europe.[14]

H18

H18 occurs on the Arabian Peninsula. [15]

H20 and H21

These haplogroups are both found in the Caucasus region.[13] H20 also appears at low levels in the Iberian Peninsula (less than 1%), Arabian Peninsula (1%) and Near East (2%).[15]

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[2] 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. Stephen Oppenheimer uses the very similar name Helina in his book The Origins of the British.

See also

Evolutionary tree of Human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1-6
L1 L2 L3   L4 L5 L6
  M N  
CZ D E G Q   A S   R   I W X Y
C Z B F R0   pre-JT P  U
HV JT K
H V J T

References

  1. ^ a b c d e f g Achilli A, Rengo C, Magri C, et al. (November 2004). "The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool". American Journal of Human Genetics 75 (5): 910–8. doi:10.1086/425590. PMC 1182122. PMID 15382008. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1182122. 
  2. ^ a b van Oven M, Kayser M (February 2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457. 
  3. ^ a b c d e Pereira L, Richards M, Goios A, et al. (January 2005). "High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium". Genome Research 15 (1): 19–24. doi:10.1101/gr.3182305. PMC 540273. PMID 15632086. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=540273. 
  4. ^ Richards M, Macaulay V, Hickey E, et al. (November 2000). "Tracing European Founder Lineages in the Near Eastern mtDNA Pool". American Journal of Human Genetics 67 (5): 1251–76. doi:10.1016/S0002-9297(07)62954-1. PMC 1288566. PMID 11032788. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1288566. 
  5. ^ Caramelli D, Milani L, Vai S, et al. (2008). Harpending, Henry. ed. "A 28,000 Years Old Cro-Magnon mtDNA Sequence Differs from All Potentially Contaminating Modern Sequences". PLoS ONE 3 (7): e2700. doi:10.1371/journal.pone.0002700. PMC 2444030. PMID 18628960. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2444030. 
  6. ^ Ghezzi D, Marelli C, Achilli A, et al. (June 2005). "Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians". European Journal of Human Genetics 13 (6): 748–52. doi:10.1038/sj.ejhg.5201425. PMID 15827561. 
  7. ^ "Haplogroup H". Atlas of the Human Journey - The Genographic Project. National Geographic. https://genographic.nationalgeographic.com/genographic/atlas.html?card=mm024. 
  8. ^ Metspalu M, Kivisild T, Metspalu E, et al. (August 2004). "Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans". BMC Genetics 5: 26. doi:10.1186/1471-2156-5-26. PMC 516768. PMID 15339343. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=516768. 
  9. ^ a b 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. 
  10. ^ Ottoni et al. 2010, Mitochondrial Haplogroup H1 in North Africa: An Early Holocene Arrival from Iberia
  11. ^ See table of frequencies of haplogroup H1 in the world, Ottoni et al. 2010
  12. ^ Hendrickson SL, Hutcheson HB, Ruiz-Pesini E, et al. (November 2008). "Mitochondrial DNA Haplogroups influence AIDS Progression". AIDS 22 (18): 2429–39. doi:10.1097/QAD.0b013e32831940bb. PMC 2699618. PMID 19005266. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2699618. 
  13. ^ a b 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.
  14. ^ a b c Alvarez-Iglesias V, Mosquera-Miguel A, Cerezo M, et al. (2009). MacAulay, Vincent. ed. "New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0". PloS ONE 4 (4): e5112. doi:10.1371/journal.pone.0005112. PMC 2660437. PMID 19340307. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2660437. 
  15. ^ a b Ennafaa H, Cabrera VM, Abu-Amero KK, et al. (2009). "Mitochondrial DNA haplogroup H structure in North Africa". BMC Genetics 10: 8. doi:10.1186/1471-2156-10-8. PMC 2657161. PMID 19243582. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2657161. 

External links

  • Haplogroup H1
    • Hope The H1 mtDNA Haplogroup Project

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