Haplogroup H (Y-DNA)
|Haplogroup H (Y-DNA)|
|Possible time of origin||25,000-45,000 years BP|
|Possible place of origin||South Asia|
|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 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.
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: M69/Page45, M370; - South Asians, Romani and Tajiks
- H2: P96, L279, L281, L284, L285, L286, M282 (formerly known as H* and before that was misclassified under Haplogroup F-M89, as "F3"); - Western Europe: in France, Switzerland, Germany and the Netherlands. But it is also found in Armenian, Iran, and India. H2 was found in Neolithic Iberia
- H3: Z5857 - South Asians
H-L901/M2939 is believed to have arisen in South Asia between 30,000 and 40,000 years ago. 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).
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%). and H-M52 among Kalash (20.5%) in Pakistan.
Haplogroup H-M69 has been found in:
- South India – 27.2% (110/405) of a sample of unspecified ethnic composition. Another study has found haplogroup H-M69 in 26.4% (192/728) of an ethnically diverse pool of samples from various regions of India.
- Sri Lanka – in 25.3% (23/91) of a sample of unspecified ethnic composition and in 10.3% (4/39) of a sample of Sinhalese.
- 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)), in 6% of a sample of Newars (4/66 H-M82) and 25.7% in Tharus of Nepal.
- Pakistan – in 4.1% Burusho, 20.5% Kalash, 4.2% Pashtun, and 6.3% in other Pakistanis. 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.
- Afghanistan – in 6.1% Pashtun.
Haplogroup H-M82 is a major lineage cluster in the Balkan Romani group, accounting for approximately 60% of the total. 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, 6% (1/17) H-M52 in a sample of Turks, 5% (1/20) H-M69 in a sample of Syrians, 4% (2/45) H-M52 in a sample of Uzbeks from Samarkand, 4% (2/53) H-M52 in a sample of Iranians from Samarkand, 3% (2/70) H-M52 in a sample of Uzbeks from Khorezm, 3% (1/38) H-M82 in a sample of Balkarians, 2.6% (3/117) H-M82 in a sample from southern Iran, 2% (1/41) H-M52 in a sample of Uyghurs from Kazakhstan, 1% (1/92 H-M82) to 2% (1/50 H-M69) of Ukrainians, 2% (1/56) H-M52 in a sample of Uzbeks from Bukhara, 2% (1/57) H-M82 in a sample of Macedonian Greeks, 2% (1/63) H-M52 in a sample of Uzbeks from the Fergana Valley, 0.9% (1/113) H-M82 in a sample of Serbians, 0.6% (3/523) H-M370 in a sample of Turks, and 0.5% (1/201) H-M52 in a sample of Somali immigrants in Denmark.
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), approximately 2% of males from Oman, 1.9% (3/157) of males from Saudi Arabia (including 2/157 = 1.3% H-M69(xM52) and 1/157 = 0.6% H-M82), and 1.4% (1/72 H-M82) of males from Qatar.
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), Balinese (19/551 = 3.45% H-M69), Tibetans (3/156 = 1.9% H-M69(xM52, APT)), Bamars from Myanmar (1/59 = 1.7% H-M82, with the relevant individual having been sampled in Bago Region), Chams from Binh Thuan, Vietnam (1/59 = 1.7% H-M69), and Mongolians (1/149 = 0.7% H-M69). The subclade H-M39/M138 has been observed in the vicinity of Cambodia, including one instance in a sample of six Cambodians and one instance in a sample of 18 individuals from Cambodia and Laos.
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. 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.
This phylogenetic tree of haplogroup subclades is based on the ISOGG Y-DNA Haplogroup H and its Subclades tree - 2014.
- H-M69 (H1) (M69, M370)
- H-M52 (H1a) (M52)
- H-M82 (H1a1) (M82)
- H-M36 (H1a1a1) (M36, M197)
- H-M97 (H1ab) (M97)
- H-M39 (H1a1c) (M39, M138)
- H-M82 (H1a1) (M82)
- H-APT (H1b1) (APT)
- H-P80 (H1b1a) (P80, P314)
- H-P266 (H1b1b) (P266)
- H-P254 (H1c) (P254)
- H-M52 (H1a) (M52)
- H-M282 (H2) (P96)(formerly known as haplogroup F3, now recognized as H2)
- H-M69 (H1) (M69, M370)
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.
|Region/Ethnicity||Country/Population||Size||H1a freq. (%)||Reference|
|East/Southeast Asia||Tibet||156||0||Gayden et al. 2007|
|East/Southeast Asia||Cambodia||6||16.67||Sengupta et al. 2006|
|East/Southeast Asia||Cambodia/Laos||18||5.56||Underhill et al. 2000|
|East/Southeast Asia||Japan||23||0||Sengupta et al. 2006|
|South Asia||Nepal||188||4.25||Gayden et al. 2007|
|South Asia||Afghanistan||204||3.43||Haber et al. 2012|
|South Asia||Malaysian Indians||301||18.94||Pamjav et al. 2011|
|South Asia||Terai-Nepal||197||10.66||Fornarino et al. 2009|
|South Asia||Hindu New Delhi||49||10.2||Fornarino et al. 2009|
|South Asia||Andhra Pradesh Tribals||29||27.6||Fornarino et al. 2009|
|South Asia||Northwest India||842||14.49||Rai et al.2012|
|South Asia||South India||1845||20.05||Rai et al.2012|
|South Asia||Central India||863||14.83||Rai et al.2012|
|South Asia||North India||622||13.99||Rai et al.2012|
|South Asia||East India||1706||8.44||Rai et al.2012|
|South Asia||West India||501||17.17||Rai et al.2012|
|South Asia||Northeast India||1090||0.18||Rai et al.2012|
|South Asia||Andaman Island||20||0||Thangaraj et al. 2003|
|North Asia||Siberia||18||0||Sengupta et al. 2006|
|Middle East and North Africa||Qatar||72||1.39||Cadenas et al. 2008|
|Middle East and North Africa||United Arab Emirates||164||1.84||Cadenas et al. 2008|
|Middle East and North Africa||Yemen||62||0||Cadenas et al. 2008|
|Middle East and North Africa||Saudi Arabia||157||0.64||Abu-Amero et al. 2009|
|Middle East and North Africa||Oman||121||0||Abu-Amero et al. 2009|
|Middle East and North Africa||Egypt||147||0||Abu-Amero et al. 2009|
|Middle East and North Africa||Somalia||201||0||Abu-Amero et al. 2009|
|Middle East and North Africa||Lebanese||916||0||Abu-Amero et al. 2009|
|Middle East and North Africa||Jordan||146||0||Abu-Amero et al. 2009|
|Middle East and North Africa||Iraq||203||0||Abu-Amero et al. 2009|
|Middle East and North Africa||Turkish||523||0.19||Cinnioglu et al. 2004|
|Middle East and North Africa||Iran||150||2||Abu-Amero et al. 2009|
|Middle East and North Africa||Iran||938||1.2||Grugni et al. 2012|
|Caucasus||Caucasians||1789||0||Yunusbayev et al. 2011|
|Caucasus||Georgians||66||0||Battaglia et al. 2009|
|Caucasus||Balkarians||38||2.6||Battaglia et al. 2009|
|Europe||Slovakian Romani||62||30.65||Pamjev et al. 2011|
|Europe||Portuguese Romani||126||16.67||Gusmao et al. 2008|
|Europe||Kosovo, Belgrade, Vojvodina Romani||88||43.18||Regueiro et al. 2011|
|Europe||Bulgarian Romani||248||39.52||Gresham et al. 2001|
|Europe||Spanish Romani||27||18.52||Gresham et al. 2001|
|Europe||Croatian Romani||377||20.16||Battaglia et al. 2009|
|Europe||Macedonian Romani (Skopje)||257||13.23||Peričić et al. 2005|
|Europe||Hungarian Romani||424||16.98||Pamjav et al. 2011|
|Europe||Lithuanian Romani||20||50||Gresham et al. 2001|
|Europe||Greeks||92||0||Battaglia et al. 2009|
|Europe||Macedonian Greeks||57||2||Battaglia et al. 2008|
|Europe||Albanians||55||0||Battaglia et al. 2009|
|Europe||Bosniaks||324||0||Battaglia et al. 2009|
|Europe||Slovenians||75||0||Battaglia et al. 2009|
|Europe||Northeastern Italians||67||0||Battaglia et al. 2009|
|Europe||Hungarians||53||0||Battaglia et al. 2009|
|Europe||Czechs||75||0||Battaglia et al. 2009|
|Europe||Poles||99||0||Battaglia et al. 2009|
|Europe||Ukrainians||92||1.1||Battaglia et al. 2009|
|Europe||Herzegovinians (Mostar, Široki Brijeg)||141||0||Peričić et al. 2005|
|Europe||Serbians (Belgrade)||113||0.9||Peričić et al. 2005|
|Evolutionary tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]|
|A00||A0-T [χ 3]|
|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|
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