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Haplogroup H
Time of origin 20,000-45,000 years BP
Place of origin South Asia or Southwest Asia
Ancestor F
Defining mutations M69
Highest frequencies Roma people & population of the Indian Subcontinent

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

This haplogroup is found at a high frequency in Indian Subcontinent. It is generally rare outside of the Indian subcontinent but is common among the Roma 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 20,000 and 30,000 years ago. 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%). On the other hand, its presence in upper castes is quite rare (ca. 10%).[1] [2] [3]

[edit] Distribution

[edit] Indian subcontinent

Haplogroup H is frequently found among populations of India (approximately 27%[4]), Sri Lanka (approx. 25%[4]), Nepal (approx. 12% in Kathmandu and 6% in Newars[5]), and Pakistan (haplogroup H1-M52 in 4.1% Burusho, 20.5% Kalash, 4.2% Pashtun, 2.5% other Pakistani)[6].

[edit] Roma people

Haplogroup H1a-M82 is a major lineage cluster in the Balkanic Romani population, accounting for approximately 60% of the total.[7] 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 Roma (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] Middle East

Haplogroup H has been found very rarely outside of the Indian subcontinent & the Roma populations, including approximately 6% (1 out of 17 individuals) H1-M52 in a sample of Kurds from Turkmenistan,[8] 4% (2/53) H1-M52 in a sample of Iranians from Samarkand,[8] 2% (1/56) H1-M52 in a sample of Uzbeks from Bukhara,[8] 3% (2/70) H1-M52 in a sample of Uzbeks from Khorezm,[8] 2% (1/63) H1-M52 in a sample of Uzbeks from the Fergana Valley,[8] 4% (2/45) H1-M52 in a sample of Uzbeks from Samarkand,[8] 12.5% (2/16) H1-M52 in a sample of Tajiks from Dushanbe,[8] 2% (1/41) H1-M52 in a sample of Uyghurs from Kazakhstan,[8] 2% (1/50) H-M69 in a sample of Ukrainians,[9] 5% (1/20) H-M69 in a sample of Syrians,[9] and 0.9% (1/113) H1a-M82 in a sample of Serbians.[7] The subclade H1a-M82 has also been found in 2.56% (3/117) of a sample of southern Iran.[10] Some instances of haplogroup H have also been found among populations of the east coast of the Arabian Peninsula, including 2.4% (4/164) haplogroup H*(xH1-M52) and 1.8% (3/164) haplogroup H1a-M82 in the United Arab Emirates,[11] 1.4% (1/72) H1a-M82 in Qatar,[11] and approximately 2% H-M69 in Oman.[12] Haplogroup H-M69(xH1-M52) has been found in approximately 2% of Tibetans.[5] The rare subclade H2-Apt has been found in 1/77 = 1.3% of a sample of Greeks.[6]

[edit] Subclades

[edit] Tree

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree[13] and subsequent published research.

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

[edit] References

  1. ^ Cordaux R, et al. (2004). "Independent Origins of Indian Caste and Tribal Paternal Lineages". Current Biology 14: 231–5. 
  2. ^ 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. PMID 16400607. PMC 1380230. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62353-2. 
  3. ^ 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. PMID 16893451. PMC 1569435. http://www.biomedcentral.com/1471-2156/7/42. 
  4. ^ a b 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. 
  5. ^ 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. PMID 17436243. PMC 1852741. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)60944-6. 
  6. ^ 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. PMID 17047675. PMC 2588664. http://www.nature.com/ejhg/journal/v15/n1/full/5201726a.html. 
  7. ^ 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. 
  8. ^ 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. PMID 11526236. PMC 56946. http://www.pnas.org/cgi/pmidlookup?view=long&pmid=11526236. 
  9. ^ 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. PMID 11073453. http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=11073453. 
  10. ^ 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. 
  11. ^ 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. 
  12. ^ 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. PMID 14973781. PMC 1182266. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61870-9. 
  13. ^ 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: 830–8. doi:10.1101/gr.7172008. http://www.genome.org/cgi/content/abstract/gr.7172008v1. 

[edit] See also

Human Y-chromosome DNA (Y-DNA) haplogroups (by ethnic groups · famous haplotypes)

most recent common Y-ancestor
|
A BT
|
B CT
|
CF DE
| |
C F D E
|
G H IJK
|
IJ K
| |
I J L MNOPS T
|
M NO P S
| |
N O Q R

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