Haplogroup H (Y-DNA)

Haplogroup H (Y-DNA)
Possible time of origin 25,000-45,000 years BP
Possible place of origin South Asia
Ancestor GHIJK
Defining mutations L901/M2939
Highest frequencies South Asia and Romani people

In human genetics, Haplogroup H (Y-DNA), also known as H-L901/M2939 is a Y-chromosome haplogroup. This haplogroup is found at high frequencies among some populations in South Asia, particularly the subclade H1 (H-M69), including its direct descendant H1a (M52). Outside South Asia, H1a1 (H-M82) – which is a direct descendant of H1A/M-82 – is found commonly in the paternal lineage of Romani people.

Haplogroup H2 (P96) seems to be primarily European, and very ancient. It was recently found in Neolithic Iberia[1][2] and may have entered Europe as long ago during the Epipaleolithic. It was founded to have somewhat of a higher average concentration in Western Europe, but has also been found among the Caucasus; notably Armenian and Iran, as well as India and other South Asia.

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:

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. Some individuals in South Asia have also been shown to belong to the much rarer subclade H3 (Z5857).

However, in 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][7] [8] [9]

South Asia

Haplogroup H-M69 is fairly common among populations of India, Sri Lanka, Nepal and Pakistan with lower frequency in Afghanistan, however, some small traces have been found. The highest frequencies of H-M69 are in India, especially in southern India at (32.9%).[7][10] and H-M52 among Kalash (20.5%) in Pakistan.[11][12]

Haplogroup H-M69 has been found in:

Romani people

Haplogroup H-M82 is a major lineage cluster in the Balkan Romani group, accounting for approximately 60% of the total.[18] 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).

Central Asia and the Middle East

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,[19] 6% (1/17) H-M52 in a sample of Turks,[19] 5% (1/20) H-M69 in a sample of Syrians,[20] 4% (2/45) H-M52 in a sample of Uzbeks from Samarkand,[19] 4% (2/53) H-M52 in a sample of Iranians from Samarkand,[19] 3% (2/70) H-M52 in a sample of Uzbeks from Khorezm,[19] 3% (1/38) H-M82 in a sample of Balkarians,[21] 2.6% (3/117) H-M82 in a sample from southern Iran,[22] 2% (1/41) H-M52 in a sample of Uyghurs from Kazakhstan,[19] 1% (1/92 H-M82)[21] to 2% (1/50 H-M69)[20] of Ukrainians, 2% (1/56) H-M52 in a sample of Uzbeks from Bukhara,[19] 2% (1/57) H-M82 in a sample of Macedonian Greeks,[21] 2% (1/63) H-M52 in a sample of Uzbeks from the Fergana Valley,[19] 0.9% (1/113) H-M82 in a sample of Serbians,[18] 0.6% (3/523) H-M370 in a sample of Turks,[23] and 0.5% (1/201) H-M52 in a sample of Somali immigrants in Denmark.[24]

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),[25] approximately 2% of males from Oman,[26] 1.9% (3/157) of males from Saudi Arabia (including 2/157 = 1.3% H-M69(xM52) and 1/157 = 0.6% H-M82),[27] and 1.4% (1/72 H-M82) of males from Qatar.[25]

The subclade H-APT has been found in 1.3% (1/77) of a sample of Greeks.[11]

East and Southeast Asia

At the easternmost extent of its distribution, Haplogroup H-M69 has been found in Thais from northern Thailand (1/17 = 5.9% H-M69),[28] Balinese (19/551 = 3.45% H-M69),[14] Tibetans (3/156 = 1.9% H-M69(xM52, APT)),[15] Bamars from Myanmar (1/59 = 1.7% H-M82, with the relevant individual having been sampled in Bago Region),[29] Chams from Binh Thuan, Vietnam (1/59 = 1.7% H-M69),[28] and Mongolians (1/149 = 0.7% H-M69).[13] 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.[16]

Haplogroup H2 (P96)

The H-P96 lineage is defined by seven SNPs. They are P96, M282, L279, L281, L284, L285, and L286. H-P96 defines the H-P96 subclade. H2 (P96) was found in Neolithic Iberia.[4][5] There is somewhat of a concentration of H-P96 in Western Europe: in France, Switzerland, Germany and the Netherlands. But it is also found in Armenia, Iran, and India. It is believed that Haplogroup H2 was one of the original lineages of the earliest Europeans.

Subclades

Tree

This phylogenetic tree of haplogroup subclades is based on the ISOGG Y-DNA Haplogroup H and its Subclades tree - 2014.[30]

Distribution of H-M82 (H1a1)

The following gives a summary of most of the studies which specifically tested for M82, showing its distribution in different part of the world.[32]

Region/Ethnicity Country/Population Size H1a freq. (%) Reference
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 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

Evolutionary 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
H IJK
IJ K
I J LT [χ 5]  K2
L T NO [χ 6] K2b [χ 7]   K2c K2d K2e [χ 8]
N O K2b1 [χ 9]    P
M S [χ 10] Q R
  1. Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809.
  2. International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. Haplogroup A0-T is also known as A0'1'2'3'4.
  4. Haplogroup A1 is also known as A1'2'3'4.
  5. Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. Haplogroup NO (M214) is also known as Haplogroup K2a (although the present Haplogroup K2e was also previously known as "K2a").
  7. Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  8. Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a, also known as Haplogroup NO).
  9. Haplogroup K2b1 (P397/P399) is similiar to the former Haplogroup MS, but has a broader and more complex internal structure.
  10. Haplogroup S (S-M230) was previously known as Haplogroup K5.

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External links

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