Haplogroup H (Y-DNA)

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Haplogroup H

Haplogrupo H (ADN-Y).PNG

Possible time of origin 25,000-45,000 years BP
Possible place of origin South Asia
Ancestor F
Defining mutations M69
Highest frequencies Romani people & populations of India

In human genetics, Haplogroup H (M69) is a Y-chromosome haplogroup.

This haplogroup is found at a high frequency in South Asia. It is generally rare outside of the South Asia but is common among the Romani people, particularly the H-M82 subgroup.

Contents

[edit] Origins

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-haplogroup of the indigenous paleolithic inhabitants of India, because it is the most frequent Y-haplogroup of tribal populations (25-35%). Its presence in upper castes is quite rare (ca. 10%).[2] [3] [4]

[edit] Distribution

[edit] South Asia

Haplogroup H is fairly common among populations of India, Sri Lanka, Nepal, and Pakistan. But the highest frequencies are in India, especially among Dravidians (33%).[5] In Koya speakers (Dravidian tribes) has been found in 71%.[6]

In India, Haplogroup H-M69 has been found in 27.2% (110/405) of a sample of unspecified ethnic composition from southern India.[7][8] 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[7][8] and in 10.3% (4/39) of a sample of Sinhalese.[6]

In Nepal, one study has found Haplogroup H in approximately 12% of a sample of males from the general population of Kathmandu (including 4/77 H1a-M82, 4/77 H1*-M52(xH1a-M82), and 1/77 H*-M69(xH1-M52, H2-Apt)) and in 6% of a sample of Newars (4/66 H1a-M82).[9]

In Pakistan, Haplogroup H1-M52 has been found in 4.1% Burusho, 20.5% Kalash, 4.2% Pashtun, and 2.5% other Pakistanis.[10] Another study has found haplogroup H in approximately 8% (3/38) of a sample of Burusho (also known as Hunza), including 5% (2/38) H1a*-M82(xH1a1-M36, H1a2-M97, H1a3-M39/M138) and 3% (1/38) H1a1-M36.[11]

[edit] Romani people

Haplogroup H1a-M82 is a major lineage cluster in the Balkan Romani group, accounting for approximately 60% of the total.[12] 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). Its ancestral M52 A C transversion was reported in the Vlax Romani group (Kalaydjieva et al. 2001) and India (Ramana et al. 2001; Wells et al. 2001; Kivisild et al. 2003). High prevalence of Asian-specific Y chromosome haplogroup H1 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).

[edit] Central Asia and the Middle East

Haplogroup H has been found very rarely outside of the Indian subcontinent and the Romani populations, including approximately 12.5% (2 out of 16 individuals) H1-M52 in a sample of Tajiks from Dushanbe,[13] 6% (1/17) H1-M52 in a sample of Kurds from Turkmenistan,[13] 5% (1/20) H-M69 in a sample of Syrians,[14] 4% (2/45) H1-M52 in a sample of Uzbeks from Samarkand,[13] 4% (2/53) H1-M52 in a sample of Iranians from Samarkand,[13] 3% (2/70) H1-M52 in a sample of Uzbeks from Khorezm,[13] 3% (1/38) H1a-M82 in a sample of Balkarians,[15] 2.6% (3/117) H1a-M82 in a sample from southern Iran,[16] 2% (1/41) H1-M52 in a sample of Uyghurs from Kazakhstan,[13] 1% (1/92 H1a-M82)[15] to 2% (1/50 H-M69)[14] of Ukrainians, 2% (1/56) H1-M52 in a sample of Uzbeks from Bukhara,[13] 2% (1/57) H1a-M82 in a sample of Macedonian Greeks,[15] 2% (1/63) H1-M52 in a sample of Uzbeks from the Fergana Valley,[13] 0.9% (1/113) H1a-M82 in a sample of Serbians,[12] 0.6% (3/523) H-M370 in a sample of Turks,[17] and 0.5% (1/201) H1-M52 in a sample of Somali immigrants to Denmark.[18]

In the Arabian Peninsula, Haplogroup H has been found in 4.3% (7/164) of males from the United Arab Emirates (including 4/164 = 2.4% H*-M69(xH1-M52, H2-Apt) and 3/164 = 1.8% H1a-M82),[19] approximately 2% of males from Oman,[20] 1.9% (3/157) of males from Saudi Arabia (including 2/157 = 1.3% H-M69(xH1-M52) and 1/157 = 0.6% H1a-M82),[21] and 1.4% (1/72 H1a-M82) of males from Qatar.[19]

The rare subclade H2-Apt has been found in 1.3% (1/77) of a sample of Greeks.[10]

[edit] East and Southeast Asia

At the easternmost extent of its distribution, Haplogroup H has been found in Balinese (19/551 = 3.45% H-M69),[8] Tibetans (3/156 = 1.9% H*-M69(xH1-M52, H2-Apt)),[9] and Mongolians (1/149 = 0.7% H-M69).[7] The subclade H1a3-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]

[edit] Subclades

[edit] Tree

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree[22] and subsequent published research.

  • H (M69, M370)
    • H*
    • H1 (M52)
      • H1a (M82)
        • H1a1 (M36, M197)
        • H1a2 (M97)
        • H1a3 (M39, M138)
    • H2 (Apt)
      • H2a (P80, P314)
      • H2b (P266)
    • H3 (P254)

[edit] See also

Evolutionary tree of Human Y-chromosome DNA (Y-DNA) haplogroups

most recent common Y-ancestor
A
A1b A1a-T
A1a A2-T
A2 A3 BT
B CT
DE CF
D E C F
G H IJK
IJ K
I J LT K(xLT)
L T M NO P S
O N Q R

Y-DNA by populations · Famous Y-DNA haplotypes

[edit] References

  1. ^ Y-DNA Haplogroup H and its Subclades - 2011
  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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62353-2. 
  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. http://www.biomedcentral.com/1471-2156/7/42. 
  5. ^ Sahoo, S. (2006). "A prehistory of Indian Y chromosomes: Evaluating demic diffusion scenarios". Proceedings of the National Academy of Sciences 103: 843–8. Bibcode 2006PNAS..103..843S. doi:10.1073/pnas.0507714103. PMC 1347984. PMID 16415161. http://www.freewebs.com/rus_anthro/India.pdf. 
  6. ^ a b Kivisild T., Rootsi S., Metspalu M. et al.. "The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations". American Journal of Human Genetics 72 (313–332): 2003. 
  7. ^ 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. 
  8. ^ 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.
  9. ^ 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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)60944-6. 
  10. ^ a b 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. http://www.nature.com/ejhg/journal/v15/n1/full/5201726a.html. 
  11. ^ a b 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. ^ 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. http://mbe.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=15944443. 
  13. ^ 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. doi:10.1073/pnas.171305098. PMC 56946. PMID 11526236. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=11526236. 
  14. ^ 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. doi:10.1126/science.290.5494.1155. PMID 11073453. http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=11073453. 
  15. ^ 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
  16. ^ 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. http://content.karger.com/produktedb/produkte.asp?typ=fulltext&file=HHE2006061003132. 
  17. ^ 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
  18. ^ Sanchez Juan J, Hallenberg Charlotte, Børsting Claus, 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. 
  19. ^ 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. 
  20. ^ 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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61870-9. 
  21. ^ Abu-Amero Khaled K., Hellani Ali, Gonzalez Ana M., 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2759955. 
  22. ^ Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research 18 (5): 830–8. doi:10.1101/gr.7172008. PMC 2336805. PMID 18385274. http://www.genome.org/cgi/content/abstract/gr.7172008v1. 

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