Haplogroup H (mtDNA)

Haplogroup H
Possible time of origin 20,000-25,000 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 G2706A, T7028C[2]

In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup that likely originated in Southwest Asia[1] 20,000-25,000 years Before Present.

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 H2a2a (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 25,000 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.

Distribution

Haplogroup H is the most common mtDNA haplogroup in Europe.[7] Haplogroup H is found in approximately 41% of native Europeans.[8][9] The haplogroup is also common in North Africa and the Middle East.[10] 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][11]

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

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 Africans. 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.[1] Its subclade H1b is most common in eastern Europe and NW Siberia.[12] So far, the highest frequency of H1 - 61%- has been found among the Tuareg of the Fezzan region in Libya.[13][14]

Frequencies of haplogroup H1 in the world (Ottoni et al. 2010)
Region or Population H1% No. of subjects
Africa
Libyan Tuareg61129
Tuareg (West Sahel)23.390
Berbers (Morocco)20.2217
Morocco12.2180
Berbers (Tunisia)13.4276
Tunisia 10.6269
Mozabite9.880
Siwas (Egypt) 1.1184
Western Sahara14.8128
Mauritania6.9102
Senegal 0100
Fulani (Chad-Cameroon)0186
Cameroon0142
Chad 077
Buduma (Niger)030
Nigeria069
Ethiopia082
Amhara (Ethiopia)090
Oromo (Ethiopia)0117
Sierra Leone0155
Guineans (Guiné Bissau)0372
Mali083
Kikuyu (Kenya)024
Benin0192
Asia
Central Asia0.7445
Pakistan0100
Yakuts 1.758
Caucasus
Caucasus (north) 8.868
Caucasus (south)2.3132
Northwestern Caucasus4.7234
Armenians2.3175
Daghestan2.5269
Georgians1193
Karachay-Balkars4.4203
Ossetians2.4296
Europe
Andalusia 24.3103
Basques (Spain) 27.8108
Catalonia13.9101
Galicia17.7266
Pasiegos (Cantabria) 23.551
Portugal25.5499
Spain (miscellaneous) 18.9132
Italy (north) 11.5322
Italy (center) 6.3208
Italy (south)8.7206
Sardinia 17.9106
Sicily 1090
Finland 1878
Volga-Ural Finnic speakers13.6125
Basques (France) 17.540
Béarnaise 14.827
France12.3106
Estonia16.7114
Saami057
Lithuania1.7180
Hungary 11.3303
Czech Republic 10.8102
Ukraine9.9191
Poland9.386
Russia13.5312
Austria10.62487
Germany6100
Romania9.4360
Netherlands 8.834
Greece (Aegean islands) 1.6247
Greece (mainland) 6.379
Macedonia 7.1252
Albania2.9105
Turks3.3360
Balkans5.4111
Croatia 8.384
Slovaks7.6119
Slovak (East)16.8137
Slovak (West)14.270
Middle East
Arabian Peninsula094
Arabian Peninsula (incl. Yemen, Oman) 0.8493
Druze 3.458
Dubai (United Arab Emirates)0.4249
Iraq1.9206
Jordanians1.7173
Lebanese4.2167
Syrians0159

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.[15]

The remaining subclades are much less frequent:

H5

Main article: Haplogroup H5 (mtDNA)

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.[16]

H2, H6 and H8

These 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.[12] H2a5 has been found in Basque Country, Spain.,[17] and in Norway, Ireland and Slovakia.[18]

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.[4] H4 is often found in Iberia.[17]

H11

H11 is commonly found in Central Europe.[17]

H18

H18 occurs on the Arabian Peninsula. [19]

H20 and H21

These haplogroups are both found in the Caucasus region.[16] H20 also appears at low levels in the Iberian Peninsula (less than 1%), Arabian Peninsula (1%) and Near East (2%).[19]

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.

Genetic traits

Haplogroup H was found as a risk factor for ischemic cardiomyopathy development.[20]

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   O 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. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 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.
  2. ↑ 2.0 2.1 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. ↑ Behar DM, van Oven M, Rosset S, Metspalu M, Loogvali E-L Silva NM, Kivisild T, Torroni A, Villems R (2012). "A "Copernican" Reassessment of the Human Mitochondrial DNA Tree from its Root". Am. J. Hum. Genet 90 (4): 675–84. doi:10.1016/j.ajhg.2012.03.002. PMC 3322232. PMID 22482806.
  4. ↑ 4.0 4.1 4.2 4.3 4.4 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.
  5. ↑ 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.
  6. ↑ Caramelli D, Milani L, Vai S et al. (2008). Harpending, Henry, ed. "A 25,000 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.
  7. ↑ 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.
  8. ↑ Bryan Sykes (2001). The Seven Daughters of Eve. London; New York: Bantam Press. ISBN 0393020185.
  9. ↑ "Maternal Ancestry". Oxford Ancestors. Retrieved 7 February 2013.
  10. ↑ "Haplogroup H". Atlas of the Human Journey - The Genographic Project. National Geographic.
  11. ↑ 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.
  12. ↑ 12.0 12.1 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.
  13. ↑ Ottoni et al. 2010, "Mitochondrial Haplogroup H1 in North Africa: An Early Holocene Arrival from Iberia", Plosone
  14. ↑ Ottoni et al., "Table of frequencies of haplogroup H1 in the world", Plosone
  15. ↑ 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.
  16. ↑ 16.0 16.1 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.
  17. ↑ 17.0 17.1 17.2 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.
  18. ↑ van Oven M and Kayser M. (2009). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Hum Mutat 30 (2): =E386–E394. doi:10.1002/humu.20921. PMID 18853457.
  19. ↑ 19.0 19.1 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.
  20. ↑ Fernández-Caggiano, Maria; Javier Barallobre-Barreiro; Ignacio Rego-Pérez; María G. Crespo-Leiro; María Jesus Paniagua; Zulaika Grillé; Francisco J. Blanco; Nieves Doménech (2012). "Mitochondrial Haplogroups H and J: Risk and Protective Factors for Ischemic Cardiomyopathy". PLOS One 7 (8): e44128. doi:10.1371/journal.pone.0044128. PMC 3429437. PMID 22937160. Retrieved 16 April 2014.

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