Haplogroup H (Y-DNA)

Haplogroup H (Y-DNA)
Possible time of origin 25,000–45,000 years BP
Possible place of origin South Asia or South-West Asia
Ancestor HIJK
Descendants H1 (L902/M3061);
H2 (P96);
H3 (Z5857)
Defining mutations L901/M2939
Highest frequencies South Asias, Khmer and Romani people

Haplogroup H (Y-DNA), also known as H-L901/M2939 is a Y-chromosome haplogroup.

The primary branch H1 (H-M69) and its subclades are the predominant haplogroups amongst some populations in South Asia, particularly its descendant H1a1 (M52). A primary branch of H-M52, H1a1a (H-M82), is found commonly among the Romani people, who originated in South Asia and migrated into the Middle East and Europe, around the beginning of the 2nd millennium CE. The much rarer primary branch H3 (Z5857) is also concentrated in South Asia.

However, the primary branch H2 (P96) seems to have been found in sparse levels primarily in Europe and West Asia since prehistory. It has been found in remains from the Linear Pottery culture and Neolithic Iberia.[1][2] H2 may have entered Europe as long ago as during the Epipaleolithic. Its distribution today is made up of various individual cases spread out throughout Europe and West Asia today, suggesting a high degree of rarity.[3]

Structure

H-L901/M2939 is a direct descendant of Haplogroup GHIJK. There are, in turn, three direct descendants of H-L901/M2939 – their defining SNPs are as follows:

  • H1 (L902/M3061)
    • H1a previously haplogroup H1 (M69/Page45, M370)
    • H1b B108, Z34961, Z34962, Z34963, Z34964
  • H2 previously haplogroup F3,[4] (P96, L279, L281, L284, L285, L286, M282)
    • H2a FGC29299/Z19067
    • H2b Z41290
    • H2c Y21618, Z19080
  • H3 (Z5857)
    • H3a (Z5866)
    • H3b (Z13871)


A further primary branch provisionally designated “H0”, which split with the rest of haplogroup H about 51,000 years BP was discovered in 2016.[5]

Distribution

H-L901/M2939 is believed to have arisen in South Asia between 30,000 and 40,000 years ago.[6] Its probable site of introduction is South Asia, since it is concentrated there. It seems to represent the main Y-Chromosome haplogroup of the paleolithic inhabitants of Indian-Subcontinent.

Within South Asia, haplogroup H is by no means restricted to specific populations. For example, H is possessed by about 28.8% of Indo-Aryan castes.[7] and in tribals about 25–35%.[8][9]

South Asia

Haplogroup H1a (M69) and its subclades are very common in South Asia and among the Romani. The much rarer primary branch H3 (Z5857) is also found mostly among South Asians. Paragroup M69* was found in 9 Hazara, 2 Pashtun, 1 Dungan, 1 Tajik, 1 Turkmen, 1 Pakistani and 1 Iranian.[10]

H-M69 is common among populations of India, Sri Lanka, and Nepal, with lower frequency in Afghanistan and Pakistan.[11] The highest frequencies of H-M69 are in India, especially in southern India at (32.9%).[7][12] and H-M52 among Kalash (20.5%) in Pakistan.[13][14]

Haplogroup H-M69 has been found in:

  • South India – 27.2% (110/405) of a sample of unspecified ethnic composition.[15][16] Another study has found haplogroup H-M69 in 26.4% (192/728) of an ethnically diverse pool of samples from various regions of India.[7]
  • Sri Lanka – in 25.3% (23/91) of a sample of unspecified ethnic composition[15][16] and in 10.3% (4/39) of a sample of Sinhalese.[14]
  • Nepal – one study has found Haplogroup H-M69 in approximately 12% of a sample of males from the general population of Kathmandu(including 4/77 H-M82, 4/77 H-M52(xM82), and 1/77 H-M69(xM52, APT)) and 6% of a sample of Newars (4/66 H-M82).[17] In another study, Y-DNA that belongs to Haplogroup H-M69 has been found in 25.7% (5/37 = 13.5% H-M69 from a village in Morang District, 9/57 = 15.8% H-M69 from a village in Chitwan District, and 30/77 = 39.0% H-M69 from another village in Chitwan District) of Tharus in Nepal.[18]
  • Pakistan – in 4.1% Burusho, 20.5% Kalash, 4.2% Pashtun, and 6.3% in other Pakistanis.[7][13] Another study has found haplogroup H-M69 in approximately 8% (3/38) of a sample of Burusho (also known as Hunza), including 5% (2/38) H-M82(xM36, M97, M39/M138) and 3% (1/38) H-M36.[19]
  • Afghanistan – in 6.1% Pashtun.[11]

Romani people

Haplogroup H-M82 is a major lineage cluster in the Romani, especially Balkan Romani, among whom it accounts for approximately 60% of males.[20] A 2-bp deletion at M82 locus defining this haplogroup was also reported in one-third of males from traditional Romani populations living in Bulgaria, Spain, and Lithuania (Gresham et al. 2001). High prevalence of Asian-specific Y chromosome haplogroup H-M82 supports their Indian origin and a hypothesis of a small number of founders diverging from a single ethnic group in India (Gresham et al. 2001).

Important studies show a limited introgression of the typical Romani Y-chromosome haplogroup H1 in several European groups, including approximately 0.61% in Gheg Albanians, 2.48% in Tosk Albanians and 0.9% in Serbians.[21]

Europe, Central Asia & Middle East

H1

Haplogroup H1 has been found very rarely outside of the Indian subcontinent and the Romani populations, including approximately 12.5% (2 out of 16 individuals) H-M52 in a sample of Tajiks from Dushanbe,[22] 6% (1/17) H-M52 in a sample of Turks,[22] 5% (1/20) H-M69 in a sample of Syrians,[23] 4% (2/45) H-M52 in a sample of Uzbeks from Samarkand,[22] 4% (2/53) H-M52 in a sample of Iranians from Samarkand,[22] 3% (2/70) H-M52 in a sample of Uzbeks from Khorezm,[22] 3% (1/38) H-M82 in a sample of Balkarians,[24] 2.6% (3/117) H-M82 in a sample from southern Iran,[25] 2% (1/41) H-M52 in a sample of Uyghurs from Kazakhstan,[22] 1% (1/92 H-M82)[24] to 2% (1/50 H-M69)[23] of Ukrainians, 2% (1/56) H-M52 in a sample of Uzbeks from Bukhara,[22] 2% (1/57) H-M82 in a sample of Macedonian Greeks,[24] 2% (1/63) H-M52 in a sample of Uzbeks from the Fergana Valley,[22] 0.9% (1/113) H-M82 in a sample of Serbians,[20] 0.6% (3/523) H-M370 in a sample of Turks,[26] and 0.5% (1/201) H-M52 in a sample of Somali immigrants in Denmark.[27]

In the Arabian Peninsula, Haplogroup H-M69 has been found in 4.3% (7/164) of males from the United Arab Emirates (including 4/164 = 2.4% H-M69(xM52,Apt) and 3/164 = 1.8% H-M82),[28] approximately 2% of males from Oman,[29] 1.9% (3/157) of males from Saudi Arabia (including 2/157 = 1.3% H-M69(xM52) and 1/157 = 0.6% H-M82),[30] and 1.4% (1/72 H-M82) of males from Qatar.[28]

The subclade H-APT (H1a2a) has been found in 1.3% (1/77) of a sample of Greeks.[13]

H2

H-P96 (H2, ex-F3), which is defined by seven SNPs – P96, M282, L279, L281, L284, L285, and L286 – is the only primary branch found mainly outside South Asia. H-P96 represents a rare mutation found in Europe, mostly located in Sardinia, with various individual cases spread out throughout Europe and West Asia.[3] A recent study of 1,194 Sardinians (Francalacci et al. 2015) found seven men belonging to Haplogroup H, two of which were P96 .[3]

Out of the four male individuals found in the Starčevo culture of South Eastern Europe, two of the four samples came back as H2, the others being G2a2a1 and G2a2b2b1a.[31] One of the two Y-dna results found at the El Portalón cave in Sierra de Atapuerca, Spain was recorded as H2, suggesting that it was present in the gene pool during the early Neolithic.[32] H2 has also been found in remains from Neolithic Iberia and in the Linear Pottery culture.[1]

Occurrences of H2 (P96) in prehistoric West Eurasia
Date Location Country Culture Accompanying haplogroups Source
7300-6750 BC Motza Israel Levantine Neolithic (PPNB) E1b1b1, T1a1, T1a2a (PPNB from Jordan) [33]
6500-6200 BC Barcin site, Yenişehir Valley Turkey Anatolian Neolithic G2a, I2C, C1a, J2a [34]
6500-6200 BC Barcin site, Yenişehir Valley Turkey Anatolian Neolithic G2a, I2C, C1a, J2a [34]
5832–5667 BC Bátaszék Hungary Starčevo G2a2a1, G2a2b2b [31]
5702–5536 BC Bátaszék Hungary Starčevo G2a2a1, G2a2b2b [31]
5400-5000 BC Szemely Hungary Vinca G2a2a, G2a2b2a1a [31]
3900–3600 BC La Mina site, Soria Spain Megalithic I2a2a1 [31]
3336-3028 BC Dzhulyunitsa Bulgaria Bulgaria_BA G2a2a1a2 [35]
3200-2600 BC Sierra de Atapuerca Spain Pre-Bell Beaker I2a2a [32]
2470-2060 BC Budapest-Bekasmegyer Hungary Kurgan Bell Beaker R1b1a1a2a1a2b1 [36]

Although not much has been written on how H2 arrived in Europe, it's connection with G2a suggests that it was assimilated (already found in Europe) or originated with the early Neolithic farmers as they traveled out of West Asia.[37] Haplogroup G2a was the dominant lineage of Neolithic farmers who introduced agriculture to Europe between 9000 and 6000 years ago, meeting the existing population who were mainly holders of Haplogroup I.[38]

With the advancement of the Proto-Indo Europeans into the continent, H2 probably fell fate in a similar fashion to G2a, which saw a huge decline as most carriers were killed or took refuge in isolated areas such as Sardinia and The Alps. With H2 already being a minor lineage associated with Neolithic Europe, it is not a surprise that its decline to the new invaders made it almost non-existent, unlike G2a which had large enough numbers to still be present, albeit at much lower numbers than it once was.[39]

East & South-East Asia

At the easternmost extent of its distribution, Haplogroup H-M69 has been found in Thais from Thailand (1/17 = 5.9% H-M69 Northern Thailand;[40] 2/290 = 0.7% H-M52 Northern Thai;[41] 2/75 = 2.7% H-M69(xM52) and 1/75 = 1.3% H-M52(xM82) general population of Thailand[42]), Balinese (19/551 = 3.45% H-M69),[16] Tibetans (3/156 = 1.9% H-M69(xM52, APT)),[17] Filipinos from southern Luzon (1/55 = 1.8% H-M69(xM52)[42]), Bamars from Myanmar (1/59 = 1.7% H-M82, with the relevant individual having been sampled in Bago Region),[43] Chams from Binh Thuan, Vietnam (1/59 = 1.7% H-M69),[40] and Mongolians (1/149 = 0.7% H-M69).[15] The subclade H-M39/M138 has been observed in the vicinity of Cambodia, including one instance in a sample of six Cambodians[7] and one instance in a sample of 18 individuals from Cambodia and Laos.[19]

Subclade distribution by population

The following gives a summary of most of the studies which specifically tested for the subclades H1a1a (H-M82) and H2 (H-P96), formerly F3, showing its distribution in different part of the world.[44]

Continent/subcontinental region Country &/or ethnicity Sample size H1a1a (M82) freq. (%) H2 (P96) freq. (%) Source
East/Southeast AsiaTibet1560Gayden et al. 2007
East/Southeast AsiaCambodia616.67Sengupta et al. 2006
East/Southeast AsiaCambodia/Laos185.56Underhill et al. 2000
East/Southeast AsiaJapan230Sengupta et al. 2006
South AsiaNepal1884.25Gayden et al. 2007
South AsiaAfghanistan2043.43Haber et al. 2012
South AsiaMalaysian Indians30118.94Pamjav et al. 2011
South AsiaTerai-Nepal19710.66Fornarino et al. 2009
South AsiaHindu New Delhi4910.2Fornarino et al. 2009
South AsiaAndhra Pradesh Tribals2927.6Fornarino et al. 2009
South AsiaChenchu Tribe India4136.6Kivisild et al. 2003
South AsiaKoya Tribe India4170.7Kivisild et al. 2003
South AsiaWest Bengal India319.6Kivisild et al. 2003
South AsiaKonkanastha Brahmin India439.3Kivisild et al. 2003
South AsiaGujarat India2913.8Kivisild et al. 2003
South AsiaLambadi India358.6Kivisild et al. 2003
South AsiaPunjab India664.5Kivisild et al. 2003
South AsiaSinhalese Sri Lanka3910.3Kivisild et al. 2003
South AsiaNorthwest India84214.49Rai et al.2012
South AsiaSouth India184520.05Rai et al.2012
South AsiaCentral India86314.83Rai et al.2012
South AsiaNorth India62213.99Rai et al.2012
South AsiaEast India17068.44Rai et al.2012
South AsiaWest India50117.17Rai et al.2012
South AsiaNortheast India10900.18Rai et al.2012
South AsiaAndaman Island200Thangaraj et al. 2003
North AsiaSiberia180Sengupta et al. 2006
Middle East and North AfricaQatar721.39Cadenas et al. 2008
Middle East and North AfricaUnited Arab Emirates1641.84Cadenas et al. 2008
Middle East and North AfricaYemen620Cadenas et al. 2008
Middle East and North AfricaSaudi Arabia1570.64Abu-Amero et al. 2009
Middle East and North AfricaOman1210Abu-Amero et al. 2009
Middle East and North AfricaEgypt1470Abu-Amero et al. 2009
Middle East and North AfricaSomalia2010Abu-Amero et al. 2009
Middle East and North AfricaLebanese9160Abu-Amero et al. 2009
Middle East and North AfricaJordan1460Abu-Amero et al. 2009
Middle East and North AfricaIraq2030Abu-Amero et al. 2009
Middle East and North AfricaTurkish5230.19Cinnioglu et al. 2004
Middle East and North AfricaIran1502Abu-Amero et al. 2009
Middle East and North AfricaIran9381.2Grugni et al. 2012
CaucasusCaucasians17890Yunusbayev et al. 2011
CaucasusGeorgians660Battaglia et al. 2009
CaucasusBalkarians382.6Battaglia et al. 2009
EuropeSlovakian Romani6230.65Pamjev et al. 2011
EuropePortuguese Romani12616.67Gusmao et al. 2008
EuropeKosovo, Belgrade, Vojvodina Romani8843.18Regueiro et al. 2011
EuropeBulgarian Romani24839.52Gresham et al. 2001
EuropeSpanish Romani2718.52Gresham et al. 2001
EuropeCroatian Romani37720.16Battaglia et al. 2009
EuropeMacedonian Romani (Skopje)25713.23Peričić et al. 2005
EuropeHungarian Romani42416.98Pamjav et al. 2011
EuropeLithuanian Romani2050Gresham et al. 2001
EuropeGreeks920Battaglia et al. 2009
EuropeMacedonian Greeks572Battaglia et al. 2008
EuropeAlbanians550Battaglia et al. 2009
EuropeBosniaks3240Battaglia et al. 2009
EuropeSlovenians750Battaglia et al. 2009
EuropeNortheastern Italians670Battaglia et al. 2009
EuropeHungarians530Battaglia et al. 2009
EuropeCzechs750Battaglia et al. 2009
EuropePoles990Battaglia et al. 2009
EuropeUkrainians921.1Battaglia et al. 2009
EuropeHerzegovinians (Mostar, Široki Brijeg)1410Peričić et al. 2005
EuropeSerbians (Belgrade)1130.9Peričić et al. 2005

See also

Phylogenetic tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1 [χ 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1  F2  F3  GHIJK
G HIJK
IJK H
IJ K
I   J     LT [χ 5]       K2 [χ 6]
L     T    K2a [χ 7]        K2b [χ 8]     K2c     K2d K2e [χ 9]  
K-M2313 [χ 10]     K2b1 [χ 11] P [χ 12]
NO   S [χ 13]  M [χ 14]    P1     P2
N O Q R

References

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