Haplogroup H (Y-DNA)

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Haplogroup H (Y-DNA)
Haplogrupo H (ADN-Y).PNG
Possible time of origin 25,000-45,000 years BP
Possible place of origin South Asia
Ancestor Haplogroup F
Defining mutations M69
Highest frequencies Romani people & populations of India

In human genetics, Haplogroup H (Y-DNA) is a Y-chromosome haplogroup.

This haplogroup is found at a high frequency in South Asia, particularly H-M69 and H-M52. Outside South Asia, the H-M82 subgroup is commonly found in the paternal lineage of Romani people.

Origins[edit]

It is a branch of Haplogroup F, and is believed to have arisen in India between 30,000 and 40,000 years ago.[1] Its probable site of introduction is India since it is concentrated there. It seems to represent the main Y-Chromosome haplogroup of the indigenous paleolithic inhabitants of India, because it is the most frequent Y-haplogroup of tribal populations (25-35%). H-M69 presence in upper castes is around 10%).[2] [3] [4]

Distribution[edit]

South Asia[edit]

Haplogroup H-M69 is fairly common among populations of India, Sri Lanka , Nepal with small percentage in Pakistan and Afghanistan. Even though European Roma are attributed to Indian origin, Pakistan can not be discounted for their origin during historical times. Lower frequency in Pakistan can be attributed to historic demographic changes with in South Asia. The highest frequencies of H-M69 are in India, especially among Dravidians (33%).[5] and H-M52 among Kalash (20.5%) in Pakistan.[6][7] All studied F * cases in the Indian subcontient have been shown to belong to a separate subclade of haplogroup H known as H3. H1+H2 is the brother clade of H3 , some old studies label H2 (once called F3) as H* this is not the same clade as the newly discovered clade and is closer to H1 [1]. The numbers below are likely to be underestimates.

In India, Haplogroup H-M69 has been found in 27.2% (110/405) of a sample of unspecified ethnic composition from southern India.[8][9] Another study has found haplogroup H-M69 in 26.4% (192/728) of an ethnically diverse pool of samples from various regions of India.[3]

In Sri Lanka, Haplogroup H-M69 has been found in 25.3% (23/91) of a sample of unspecified ethnic composition[8][9] and in 10.3% (4/39) of a sample of Sinhalese.[7]

In 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 in 6% of a sample of Newars (4/66 H-M82).[10]

In Pakistan, Haplogroup H-M52 has been found in 4.1% Burusho, 20.5% Kalash, 4.2% Pashtun, and 2.5% other Pakistanis.[6] 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.[11] Due to the small percentage by which the haplogroup is found, modern-day Pakistanis may not necessarily be genetically related to modern-day Indians. This conclusion sound not realistic based on this group alone as Indians and Pakistanis share lot of other groups like R1a1, R2, J2 and L and Mtdna M, U and R [11]

In Afghanistan, it has been found in 6.1% Pashtun.[12]

Romani people[edit]

Haplogroup H-M82 is a major lineage cluster in the Balkan Romani group, accounting for approximately 60% of the total.[13] 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[edit]

Haplogroup H-M69 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,[14] 6% (1/17) H-M52 in a sample of Turks,[14] 5% (1/20) H-M69 in a sample of Syrians,[15] 4% (2/45) H-M52 in a sample of Uzbeks from Samarkand,[14] 4% (2/53) H-M52 in a sample of Iranians from Samarkand,[14] 3% (2/70) H-M52 in a sample of Uzbeks from Khorezm,[14] 3% (1/38) H-M82 in a sample of Balkarians,[16] 2.6% (3/117) H-M82 in a sample from southern Iran,[17] 2% (1/41) H-M52 in a sample of Uyghurs from Kazakhstan,[14] 1% (1/92 H-M82)[16] to 2% (1/50 H-M69)[15] of Ukrainians, 2% (1/56) H-M52 in a sample of Uzbeks from Bukhara,[14] 2% (1/57) H-M82 in a sample of Macedonian Greeks,[16] 2% (1/63) H-M52 in a sample of Uzbeks from the Fergana Valley,[14] 0.9% (1/113) H-M82 in a sample of Serbians,[13] 0.6% (3/523) H-M370 in a sample of Turks,[18] and 0.5% (1/201) H-M52 in a sample of Somali immigrants in Denmark.[19]

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),[20] approximately 2% of males from Oman,[21] 1.9% (3/157) of males from Saudi Arabia (including 2/157 = 1.3% H-M69(xM52) and 1/157 = 0.6% H-M82),[22] and 1.4% (1/72 H-M82) of males from Qatar.[20]

The subclade H-APT has been found in 1.3% (1/77) of a sample of Greeks.[6]

East and Southeast Asia[edit]

At the easternmost extent of its distribution, Haplogroup H-M69 has been found in Thais from northern Thailand (1/17 = 5.9% H-M69),[23] Balinese (19/551 = 3.45% H-M69),[9] Tibetans (3/156 = 1.9% H-M69(xM52, APT)),[10] Bamars from Myanmar (1/59 = 1.7% H-M82, with the relevant individual having been sampled in Bago Region),[24] Chams from Binh Thuan, Vietnam (1/59 = 1.7% H-M69),[23] and Mongolians (1/149 = 0.7% H-M69).[8] The subclade H-M39/M138 has been observed in the vicinity of Cambodia, including one instance in a sample of six Cambodians[3] and one instance in a sample of 18 individuals from Cambodia and Laos.[11]

Haplogroup H P96[edit]

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. . There is somewhat of a concentration of F-P96 in France, Switzerland, Germany and the Netherlands. But it is also found in Armenians, Iran, and India.

Subclades[edit]

Tree[edit]

This phylogenetic tree of haplogroup subclades is based on the ISOGG Y-DNA Haplogroup H and its Subclades tree - 2014.[25]

  • H-M3035
    • 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-APT (H1b1) (APT)
        • H-P80 (H1b1a) (P80, P314)
        • H-P266 (H1b1b) (P266)
      • H-P254 (H1c) (P254)
    • H-M282 (H2) (P96)(formerly known as haplogroup F3, now recognized as H2[26])

Distribution of H-M82 (H1a1)[edit]

The following gives a summary of most of the studies which specifically tested for M82, showing its distribution in different part of the world.[27]

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

See also[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups [n 1] [n 2]
"Y-chromosomal Adam"
A00 A0-T [n 3]
A0 A1[n 4]
A1* A1a A1b
A1b* A1b1 BT
B CDEF
DE CF
D E C F
GHIJK
G HIJK
H IJK
IJ K
I J LT (K1)  K2
L T NO (K2a) K2b[n 5]   K2c K2d K2e [n 6]
N O MS P
M S 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 K2b (M1221/P331/PF5911) was previously known as Haplogroup MPS.
  6. ^ Haplogroup K2e (K-M147) was previously known as ex-K2a and/or "Haplogroup X".

References[edit]

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  2. ^ Cordaux R et al. (2004). "Independent Origins of Indian Caste and Tribal Paternal Lineages". Current Biology 14 (3): 231–5. doi:10.1016/j.cub.2004.01.024. PMID 14761656. 
  3. ^ a b c Sengupta S, Zhivotovsky LA, King R et al. (February 2006). "Polarity and temporality of high-resolution y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influence of Central Asian pastoralists". Am. J. Hum. Genet. 78 (2): 202–21. doi:10.1086/499411. PMC 1380230. PMID 16400607. 
  4. ^ Thanseem I, Thangaraj K, Chaubey G et al. (2006). "Genetic affinities among the lower castes and tribal groups of India: inference from Y chromosome and mitochondrial DNA". BMC Genet. 7: 42. doi:10.1186/1471-2156-7-42. PMC 1569435. PMID 16893451. 
  5. ^ Sahoo, S. (2006). "A prehistory of Indian Y chromosomes: Evaluating demic diffusion scenarios" (PDF). Proceedings of the National Academy of Sciences 103: 843–8. Bibcode:2006PNAS..103..843S. doi:10.1073/pnas.0507714103. PMC 1347984. PMID 16415161. 
  6. ^ a b c Firasat S, Khaliq S, Mohyuddin A et al. (January 2007). "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan". Eur. J. Hum. Genet. 15 (1): 121–6. doi:10.1038/sj.ejhg.5201726. PMC 2588664. PMID 17047675. 
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  8. ^ a b c Hammer MF, Karafet TM, Park H et al. (2006). "Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes". J. Hum. Genet. 51 (1): 47–58. doi:10.1007/s10038-005-0322-0. PMID 16328082. 
  9. ^ a b c Tatiana M. Karafet, J. S. Lansing, Alan J. Redd et al., "Balinese Y-Chromosome Perspective on the Peopling of Indonesia: Genetic Contributions from Pre-Neolithic Hunter-Gatherers, Austronesian Farmers, and Indian Traders," Human Biology, February 2005, v. 77, no. 1, pp. 93-114.
  10. ^ a b Gayden T, Cadenas AM, Regueiro M et al. (May 2007). "The Himalayas as a directional barrier to gene flow". Am. J. Hum. Genet. 80 (5): 884–94. doi:10.1086/516757. PMC 1852741. PMID 17436243. 
  11. ^ a b c Peter A. Underhill, Peidong Shen, Alice A. Lin et al., "Y chromosome sequence variation and the history of human populations," Nature Genetics, Volume 26, November 2000.
  12. ^ Marc, Haber; Platt, DE; Ashrafian Bonab, M; Youhanna, SC; Soria-Hernanz, DF et al. (2012). "Afghanistan's Ethnic Groups Share a Y-Chromosomal Heritage Structured by Historical Events". PLoS ONE 7 (3): e34288. doi:10.1371/journal.pone.0034288. PMC 3314501. PMID 22470552. 
  13. ^ a b Pericić M, Lauc LB, Klarić IM et al. (October 2005). "High-resolution phylogenetic analysis of southeastern Europe traces major episodes of paternal gene flow among Slavic populations". Mol. Biol. Evol. 22 (10): 1964–75. doi:10.1093/molbev/msi185. PMID 15944443. 
  14. ^ a b c d e f g h Wells RS, Yuldasheva N, Ruzibakiev R et al. (August 2001). "The Eurasian heartland: a continental perspective on Y-chromosome diversity". Proc. Natl. Acad. Sci. U.S.A. 98 (18): 10244–9. Bibcode:2001PNAS...9810244W. doi:10.1073/pnas.171305098. PMC 56946. PMID 11526236. 
  15. ^ a b Semino O, Passarino G, Oefner PJ et al. (November 2000). "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective". Science 290 (5494): 1155–9. Bibcode:2000Sci...290.1155S. doi:10.1126/science.290.5494.1155. PMID 11073453. 
  16. ^ a b c Vincenza Battaglia, Simona Fornarino, Nadia Al-Zahery et al., "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe," European Journal of Human Genetics (2008), 1 – 11
  17. ^ Regueiro M, Cadenas AM, Gayden T, Underhill PA, Herrera RJ (2006). "Iran: tricontinental nexus for Y-chromosome driven migration". Hum. Hered. 61 (3): 132–43. doi:10.1159/000093774. PMID 16770078. 
  18. ^ Cengiz Cinnioğlu, Roy King, Toomas Kivisild et al., "Excavating Y-chromosome haplotype strata in Anatolia," Human Genetics (2004) 114 : 127–148 DOI 10.1007/s00439-003-1031-4
  19. ^ Sanchez JJ, Hallenberg C, Børsting C, Hernandez A, Morling N (2005). "High frequencies of Y chromosome lineages characterized by E3b1, DYS19-11, DYS392-12 in Somali males". European Journal of Human Genetics 13 (7): 856–866. doi:10.1038/sj.ejhg.5201390. PMID 15756297. 
  20. ^ a b Cadenas AM, Zhivotovsky LA, Cavalli-Sforza LL, Underhill PA, Herrera RJ (March 2008). "Y-chromosome diversity characterizes the Gulf of Oman". Eur. J. Hum. Genet. 16 (3): 374–86. doi:10.1038/sj.ejhg.5201934. PMID 17928816. 
  21. ^ Luis JR, Rowold DJ, Regueiro M et al. (March 2004). "The Levant versus the Horn of Africa: evidence for bidirectional corridors of human migrations". Am. J. Hum. Genet. 74 (3): 532–44. doi:10.1086/382286. PMC 1182266. PMID 14973781. 
  22. ^ Abu-Amero KK, Hellani A, Gonzalez AM, Larruga JM, Cabrera VM, Underhill PA (2009). "Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions". BMC Genetics 10: 59. doi:10.1186/1471-2156-10-59. PMC 2759955. PMID 19772609. 
  23. ^ a b He J-D, Peng M-S; Quang, HH; Dang, KP; Trieu, AV et al. (2012). "Patrilineal Perspective on the Austronesian Diffusion in Mainland Southeast Asia". PLoS ONE 7 (5): e36437. doi:10.1371/journal.pone.0036437. PMC 3346718. PMID 22586471. 
  24. ^ Min-Sheng Peng, Jun-Dong He, Long Fan et al. (2013), "Retrieving Y chromosomal haplogroup trees using GWAS data." European Journal of Human Genetics advance online publication, 27 November 2013; doi:10.1038/ejhg.2013.272
  25. ^ International Society of Genetic Genealogy (25 November 2014). "Y-DNA Haplogroup Tree 2014 Version: 9.127". 
  26. ^ van Oven M, Van Geystelen A, Kayser M et al. (2013). "Seeing the Wood for the Trees: A Minimal Reference Phylogeny for the Human Y Chromosome.". Hum. Mutat. 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809. 
  27. ^ The Phylogeography of Y-Chromosome Haplogroup H1a1a-M82 Reveals the Likely Indian Origin of the European Romani Populations. Rai N, Chaubey G, Tamang R, Pathak AK, Singh VK, et al. (2012) The Phylogeography of Y-Chromosome Haplogroup H1a1a-M82 Reveals the Likely Indian Origin of the European Romani Populations. PLoS ONE 7(11): e48477. doi:10.1371/journal.pone.0048477

External links[edit]