The primary branch H1 (H-M69) and its subclades is one of the most predominant haplogroups amongst populations in
South Asia, particularly its descendant H1a1 (M52). A primary branch of H-M52, H1a1a (H-M82), is found commonly among the
Roma, who originated in South Asia and migrated into the Middle East and Europe, around the beginning of the
2nd millennium CE, and the
Khmer people who got under influence from Indian populations.[4] 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 of the Pre-Pottery Neolithic B (PPNB), which is part of the
Pre-Pottery Neolithic, a
Neolithic culture centered in
upper Mesopotamia and the
Levant, dating to
c. 10,800 – c. 8,500 years ago, and also the later
Linear Pottery culture and
Neolithic Iberia.[5][6] H2 likely entered Europe during the
Neolithic with the spread of agriculture.[6][7] Its present distribution is made up of various individual cases spread out throughout Europe and West Asia today.[8]
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:
H-L901/M2939 is believed to have split from
HIJK 48,500 years before present.[10] It seems to represent the main Y-Chromosome haplogroup of the paleolithic inhabitants of South Asia. Possible site of introduction may be South Asia, since it is highly concentrated there.[11]
With limited ancient DNA testing in
South Asia, accordingly there is a limited amount of ancient samples for H1a, despite it being a populous and well distributed haplogroup today. The first set of ancient DNA from South Asia was published in March 2018.[14] 65 samples were collected from the
Swat Valley of northern
Pakistan, 2 of which belonged to H1a.[14]
The 2021 study "Using Y-chromosome capture enrichment to resolve haplogroup H2 shows new evidence for a two-path Neolithic expansion to Western Europe"[7] found that while H2 is less than 0.2% in modern-day western European populations it was more common during the Neolithic, between 1.5 and 9%. They identified two major clades H2m and H2d. With respect to the current ISOGG nomenclature, H2m appears to be defined by a mix of H2, H2a, H2a1 and H2c1a SNPs while H2d appears to be defined by two H2b1 SNPs, and four additional SNPs which were previously undetected. They estimated TMRCA for H2d and H2m was ~15.4 kya with H2m and H2d estimated TMRCAs of ~11.8 and ~11.9 kya respectively. H2 diversity probably existed in Near-Eastern hunter-gatherers and early farmers, and subsequently spread via the Neolithic expansion into Central and Western Europe. H2d was found along the inland/Danubian route into central Europe, but most H2m individuals are found along the Mediterranean route into Western Europe, the Iberian Peninsula and ultimately, Ireland.
There were also two occurrences of H2a found in the Neolithic Linkardstown burials in the southeast Ireland.[18] More Neolithic H2 samples have been found in Germany and France.[19]
H-M69 is common among populations of Bangladesh, India, Sri Lanka, Nepal and Pakistan, with lower frequency in Afghanistan.[2] The highest frequency of Halpogroup H found in tribal groups such as 87% among
Koraga, 70% among
Koya and 62% among
Gond.[27][28] The high frequencies of H-M69 are in India, in both Dravidian and Indo-Aryan castes (32.9%).,[4][29] in
Dhaka, Bangladesh (35.71%),[30] and H-M52 among
Kalash (20.5%) in Pakistan.[31][28]
Haplogroup H is typically found among
Indo-Aryan,
Dravidian and Tribal (Indian as well as Pakistani
Kalash) populations in the Indian subcontinent. In Europe it is mostly found among
Roma, who belong predominantly (between 7% and 50%) to the H1a (M82) subclade.
Haplogroup H-M69 has been found in:
Bangladesh - 35.71% (15/42) in samples from
Dhaka,[30] and 17.72% (115/649) among
Bengali samples from various areas of the country.[32]
South India – 27.2% (110/405) of a sample of unspecified ethnic composition.[33][34] Halpogroup H found among Dravidian tribal groups in highest frequency.
Koraga people carry 87% and
Koya tribe have 70% halpogroup H.[27][28]Gondi people carry around 62% of halpogroup H.[35] Another study has found haplogroup H-M69 in 26.4% (192/728) of an ethnically diverse pool of samples from various regions of India.[4]
West India - In
Maharashtra - 33.3% of a sample of (68/204)[36] and in
Gujarat, 20.69% (12/58) among Gujaratis in USA.[30] 13.8% (4/29) among unspesified Gujaratis in India,[37] 26% (13/50)among Dawoodi Bohra,[38] 27.27 (6/22) among Bhils,[39] 1.56% among Gujarati Brahmins[39]
North India - According to a study (Trivedi2007) it is found 24.5% (44/180) in both Caste and tribal population of North India. Most frequently found : 44.4% (8/18) among
Uttar Pradesh (UP) Chamar,[4] 20.7% (6/29) among UP Rajputs,[4] 18.3% (9/49) among New Delhi Hindus,[40] 16.13% (5/31) among UP Brahmins,[39] 11.11% (6/54) among UP
Kols,[39] 10.53% (2/19) among Himachal Brahmin,[39] 10.2% (5/49) in J&K Kashmiri Gujars,[39] 9.8% (5/51) in J&K Kashmiri Pandits,[39]
Sri Lanka – in 25.3% (23/91) of a sample of unspecified ethnic composition[33][34] and in 10.3% (4/39) of a sample of
Sinhalese.[28]
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).[41] 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.[42]
Pakistan – in 4.1%
Burusho, 20.5%
Kalash, 4.2%
Pashtun, and 6.3% in other
Pakistanis.[4][31] 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.[43]
Haplogroup H-M82 is a major lineage cluster in the Roma, especially
Balkan Roma, among whom it accounts for approximately as high as 60% of males.[44] A 2-bp deletion at M82 locus defining this haplogroup was also reported in one-third of males from traditional Roma populations living in
Bulgaria,
Spain, and
Lithuania.[45] 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 Roma Y-chromosome haplogroup H1 in several European groups, including approximately 0.61% in Gheg Albanians and 2.48% in Tosk Albanians.[46]
Haplogroup H1a is found at much lower levels outside of the Indian subcontinent and the Roma populations but is still present in other populations:
Europe - 0.9% (1/113) H-M82 in a sample of
Serbians,[44] 2% (1/57) H-M82 in a sample of Macedonian Greeks,[40] 1% (1/92 H-M82)[40] to 2% (1/50 H-M69)[50] of
Ukrainians, H1a2a in 1.3% (1/77) of a sample of
Greeks.[31]
Central Asia - 12.5% (2/16) H-M52 in a sample of
Tajiks from
Dushanbe,[51] 5.19% (7/135) H-M69 in a sample of Salar from Qinghai,[52] 5.13% (2/39) H (including 1/39 H(xH1,H2) and 1/39 H1) in a sample of Uyghurs from Darya Boyi Village, Yutian (Keriya) County, Xinjiang,[53] 4.65% (6/129) H-M69 in a sample of Mongols from Qinghai,[52] 4.44% (2/45) H-M52 in a sample of
Uzbeks from Samarkand,[51] 3.56% (17/478) H-M69 and 0.84% (4/478) F-M89(xG-M201, H-M69, I-M258, J-M304, L-M20, N-M231, O-M175, P-M45, T-M272) in a sample of Uyghurs from the Hotan area, Xinjiang,[52] 2.86% (2/70) H-M52 in a sample of Uzbeks from
Xorazm,[51] 2.44% (1/41) H-M52 in a sample of
Uyghurs from
Kazakhstan,[51] 1.79% (1/56) H-M52 in a sample of Uzbeks from
Bukhara,[51] 1.71% (3/175) H-M69 in a sample of Hui from the Changji area, Xinjiang,[52] 1.59% (1/63) H-M52 in a sample of Uzbeks from the
Fergana Valley,[51] 1.56% (1/64) H1 in a sample of Uyghurs from Qarchugha Village, Yuli (Lopnur) County, Xinjiang,[53] 1.32% (1/76) H2 in a sample of Uyghurs from Horiqol Township, Awat County, Xinjiang,[53] 0.99% (1/101) H-M69 in a sample of Kazakhs from the Hami area, Xinjiang.[52]
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;[59] 2/290 = 0.7% H-M52
Northern Thai;[60] 2/75 = 2.7% H-M69(xM52) and 1/75 = 1.3% H-M52(xM82) general population of Thailand[61]),
Balinese (19/551 = 3.45% H-M69),[34]Tibetans (3/156 = 1.9% H-M69(xM52, APT)),[41]Filipinos from southern
Luzon (1/55 = 1.8% H-M69(xM52)[61]),
Bamars from
Myanmar (1/59 = 1.7% H-M82, with the relevant individual having been sampled in
Bago Region),[62]Chams from Binh Thuan, Vietnam (1/59 = 1.7% H-M69),[59] and
Mongolians (1/149 = 0.7% H-M69).[33] The subclade H-M39/M138 has been observed in the vicinity of
Cambodia, including one instance in a sample of six Cambodians[4] and one instance in a sample of 18 individuals from Cambodia and Laos.[43] A genome study about Khmer people resulted in an average amount of 16,5% of Khmer belonging to y-DNA H.[4]
H1b
H1b is defined by the SNPs - B108, Z34961, Z34962, Z34963, and Z34964.[63] Only discovered in 2015, H1b was detected in a single sample from an individual in Myanmar.[64] Due to only being classified recently, there are currently no studies recording H1b in modern populations.
H2
H2 (H-P96), which is defined by seven SNPs – P96, M282, L279, L281, L284, L285, and L286 – is the only primary branch found mainly outside South Asia.[63] Formerly named F3, H2 was reclassified as belonging to haplogroup H due to sharing the marker M3035 with H1.[65] While being found in numerous ancient samples, H2 has only been found scarcely in modern populations across West Eurasia.[5]
H3 (Z5857) like H1, is also mostly centered in South Asia, albeit at much lower frequencies.[64]
Like other branches of H, due to it being newly classified it is not explicitly found in modern population studies. Samples belonging to H3 were likely labeled under F*.[64] In consumer testing, it has been found principally among South Indians and Sri Lankans, and other areas of Asia such as Arabia as well.[10]
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.[72]
^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.
PMID24166809.
S2CID23291764.
^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
^ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).
^K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.;
YFull YTree v5.08, 2017, "K-M2335", and;
PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
^ Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
^
abcdNarasimhan VM, Patterson NJ, Moorjani P, Lazaridis I, Mark L, Mallick S, Rohland N, Bernardos R, Kim AM, Nakatsuka N, Olalde I (31 March 2018). "The Genomic Formation of South and Central Asia".
bioRxiv10.1101/292581.
^
abMathieson I, Lazaridis I, Rohland N, Mallick S, Patterson N, Roodenberg SA, Harney E, Stewardson K, Fernandes D, Novak M, Sirak K (10 October 2015). "Eight thousand years of natural selection in Europe".
bioRxiv10.1101/016477.
^Mathieson I, Alpaslan-Roodenberg S, Posth C, Szécsényi-Nagy A, Rohland N, Mallick S, Olalde I, Broomandkhoshbacht N, Candilio F, Cheronet O, Fernandes D (9 May 2017). "The Genomic History Of Southeastern Europe".
bioRxiv10.1101/135616.
^
abcKarafet TM, Lansing JS, Redd AJ, Reznikova S, Watkins JC, Surata SP, et al. (February 2005). "Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders". Human Biology. 77 (1): 93–114.
doi:
10.1353/hub.2005.0030.
hdl:1808/13586.
PMID16114819.
S2CID7953854.
^
abUnderhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, et al. (November 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358–361.
doi:
10.1038/81685.
PMID11062480.
S2CID12893406.
^
abcdGresham D, Morar B, Underhill PA, Passarino G, Lin AA, Wise C, Angelicheva D, Calafell F, Oefner PJ, Shen P, Tournev I, de Pablo R, Kuĉinskas V, Perez-Lezaun A, Marushiakova E, Popov V, Kalaydjieva L (December 2001).
"Origins and divergence of the Roma (gypsies)". American Journal of Human Genetics. 69 (6): 1314–1331.
doi:
10.1086/324681.
PMC1235543.
PMID11704928.
^Ferri G, Tofanelli S, Alù M, Taglioli L, Radheshi E, Corradini B, et al. (September 2010). "Y-STR variation in Albanian populations: implications on the match probabilities and the genetic legacy of the minority claiming an Egyptian descent". International Journal of Legal Medicine. 124 (5): 363–370.
doi:
10.1007/s00414-010-0432-x.
PMID20238122.
S2CID1433895.
^
abPamjav H, Zalán A, Béres J, Nagy M, Chang YM (May 2011). "Genetic structure of the paternal lineage of the Roma people". American Journal of Physical Anthropology. 145 (1): 21–29.
doi:
10.1002/ajpa.21454.
PMID21484758.
^
abRegueiro M, Stanojevic A, Chennakrishnaiah S, Rivera L, Varljen T, Alempijevic D, Stojkovic O, Simms T, Gayden T, Herrera RJ (January 2011). "Divergent patrilineal signals in three Roma populations". American Journal of Physical Anthropology. 144 (1): 80–91.
doi:
10.1002/ajpa.21372.
PMID20878647.
^Gusmão A, Gusmão L, Gomes V, Alves C, Calafell F, Amorim A, Prata MJ (March 2008). "A perspective on the history of the Iberian gypsies provided by phylogeographic analysis of Y-chromosome lineages". Annals of Human Genetics. 72 (Pt 2): 215–227.
doi:
10.1111/j.1469-1809.2007.00421.x.
PMID18205888.
S2CID6365458.
^
abcSemino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, et al. (November 2000). "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective". Science. 290 (5494): 1155–1159.
Bibcode:
2000Sci...290.1155S.
doi:
10.1126/science.290.5494.1155.
PMID11073453.
^
abcdeLu Yan (2011), "Genetic Mixture of Populations in Western China." Shanghai: Fudan University, 2011: 1-84. (Doctoral dissertation in Chinese: 陆艳, “中国西部人群的遗传混合”, 上海:复旦大学,2011: 1-84.)
^
abcLIU Shuhu, NIZAM Yilihamu, RABIYAMU Bake, ABDUKERAM Bupatima, and DOLKUN Matyusup, "A study of genetic diversity of three isolated populations in Xinjiang using Y-SNP." Acta Anthropologica Sinica, 2018, 37(1): 146-156.
^Regueiro M, Cadenas AM, Gayden T, Underhill PA, Herrera RJ (2006). "Iran: tricontinental nexus for Y-chromosome driven migration". Human Heredity. 61 (3): 132–143.
doi:
10.1159/000093774.
PMID16770078.
S2CID7017701.
^van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau MH (February 2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–191.
doi:
10.1002/humu.22468.
PMID24166809.
S2CID23291764.