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Haplogroup R-M124

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Haplogroup R2a
Possible time of origin14,700 [95% CI 13,200 <-> 16,100] years before present[1]
Coalescence age11,900 [95% CI 10,500 <-> 13,400] years before present[1]
Possible place of originSouthwest Asia
AncestorR-M479
DescendantsR-M124*, R-L295, R-L263, R-L1069
Defining mutationsM124, P249, P267, L266 [2][3]

Haplogroup R2a, or haplogroup R-M124, is a Y-chromosome haplogroup characterized by genetic markers M124, P249, P267, L266, and is mainly found in South Asia as well as in Central Asia, Caucasus, Southwest Asia, and the Arab countries with low frequencies.

Term history

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Haplogroup R2a is also known as haplogroup R-M124.[2] The first reference to the newly defined haplogroup, "R-M124", was on 25 August 2010.[4]

Before the publication of the 2005 Y-Chromosome Phylogenetic Tree, Haplogroup R-M124 was known as Haplogroup P1 and formerly thought to be a sister clade of Haplogroup R rather than derived from it.[5]

Haplogroup R2 most often observed in Asia, especially on the Indian sub-continent and Central Asia.[5] It is also reported at notable frequencies in Caucasus.

Origins

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According to Sengupta et al. (2006),

uncertainty neutralizes previous conclusions that the intrusion of HGs R1a1 and R2 [Now R-M124] from the northwest in Dravidian-speaking southern tribes is attributable to a single recent event. Rather, these HGs contain considerable demographic complexity, as implied by their high haplotype diversity. Specifically, they could have actually arrived in southern India from a southwestern Asian source region multiple times, with some episodes considerably earlier than others.

Subclades

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Haplogroup R‑M124 

Paragroup R-M124*

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Paragroup is a term used in population genetics to describe lineages within a haplogroup that are not defined by any additional unique markers. They are typically represented by an asterisk (*) placed after the main haplogroup.

Y-chromosomes which are positive to the M124, P249, P267, and L266 SNPs and negative to the L295, L263, and L1069 SNPs, are categorized as belonging to Paragroup R-M124*. It is found in Iraq, so far.

Haplogroup R-L295

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Haplogroup R-L295 is a Y-chromosome haplogroup characterized by genetic marker L295. It is found in South Asia, Anatolia, Arabian Peninsula, Europe, & Central Asia so far.

Haplogroup R-L263

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Haplogroup R-L263 is a Y-chromosome haplogroup characterized by genetic marker L263. It is found in Greek Asia Minor & Armenia so far.[6]

Haplogroup R-L1069

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Haplogroup R-L1069 is a Y-chromosome haplogroup characterized by genetic marker L1069. It is found in Kuwait so far.[6]

Distribution

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R-M124 is most often observed in Asia, especially on the Indian sub-continent and in Central Asia[5] It is also reported at notable frequencies in Caucasus.

Historical

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Ancient samples of haplogroup R2a were observed in the remains of humans from Neolithic, Chalcolithic and Bronze Age Iran and Turan; and Iron Age South Asia. R2a was also recovered from excavated remains in the South Asian sites of Saidu Sharif and Butkara from a later period.[7]

South Asia

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Frequency of R-M124 in Social and Linguistic Subgroups of Indian Populations
(Source: Sengupta et al. 2006)
Tibeto-Burman Austro-Asiatic Dravidian Indo-European
Tribe 5.75% 10.94% 5.00% -
Lower Caste - - 13.79% 10.00%
Middle Caste - - 3.53% 18.75%
Upper Caste - - 10.17% 16.28%

Haplogroup R-M124, along with haplogroups H, L, R1a1, and J2, forms the majority of the South Asian male population. The frequency is around 10-15% in India and Sri Lanka and 7-8% in Pakistan. Its spread within South Asia is very extensive, ranging from Baluchistan in the west to Bengal in the east; Hunza in the north to Sri Lanka in the south.

India

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Among regional groups, it is found among West Bengalis (23%), New Delhi Hindus (20%), Punjabis (5%) and Gujaratis (3%).[8] Among tribal groups, Karmalis of West Bengal showed highest at 100% (16/16)[9] followed by Lodhas (43%)[10] to the east, while Bhil of Gujarat in the west were at 18%,[11] Tharus of north showed it at 17%,[12] Chenchu and Pallan of south were at 20% and 14% respectively.[9][13] Among caste groups, high percentages are shown by Jaunpur Kshatriyas (87%), Kamma Chaudhary (73%), Bihar Yadav (50%), Khandayat (46%)and Kallar (44%).[9]

It is also significantly high in many Brahmin groups including Punjabi Brahmins (25%), Bengali Brahmins (22%), Konkanastha Brahmins (20%), Chaturvedis (32%), Bhargavas (32%), Kashmiri Pandits (14%) and Lingayat Brahmins (30%).[11][14][12][9]

North Indian Muslims have a frequency of 19% (Sunni) and 13% (Shia),[14] while Dawoodi Bohra Muslim in the western state of Gujarat have a frequency of 16% and Mappila Muslims of South India have a frequency of 5%.[15]

Pakistan

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The R2 haplogroup in the northern regions of Pakistan is found among Burusho people (14%), Pashtuns (10%) and Hazaras (4%).[16][13]

In southern regions, it is found among Balochis (12%), Brahuis (12%) and Sindhi (5%).[13]

Afghanistan

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The R2-M124 haplogroup occurs at a considerably higher rate in the northern regions of Afghanistan (11.4%).[17] Although the true percentage remains debated, the haplogroup is known to be at elevated levels in the Pamiri population (number ranges from 6-17% depending on the group). One study on Nuristanis shows a 20% frequency of R2 (1/5), albeit with a small sample size.[18]

Sri Lanka

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38% of the Sinhalese of Sri Lanka were found to be R2 positive according to a 2003 research.[8]

Central Asia

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In Kazakh tribes it varies from 1% to 12%, however it is found at a higher percent at about 25% among Tore Tribe / Genghis Khans descendant tribe.[19]

In Central Asia, Tajikistan shows Haplogroup R-M124 at 6%, while the other '-stan' states vary around 2%. Bartangis of Tajikistan have a high frequency of R-M124 at about 17%, Ishkashimi at 8%, Khojant at 9% and Dushanbe at 6%.

Specifically, Haplogroup R-M124 has been found in approximately 7.5% (4/53) of recent Iranian emigrants living in Samarkand,[20] 7.1% (7/99) of Pamiris,[20] 6.8% (3/44) of Karakalpaks,[20] 5.1% (4/78) of Tajiks,[20] 5% (2/40) of Dungans in Kyrgyzstan,[20] 3.3% (1/30) of Turkmens,[20] 2.2% (8/366) of Uzbeks,[20] and 1.9% (1/54) of Kazakhs.[20]

East Asia

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A 2011 genetic study found R-M124 in 6.7% of Han Chinese from western Henan, 3.4% of Han Chinese from Gansu and 2.1% to 4.2% of Uyghurs from Xinjiang.[21]

In a 2014 paper, R-M124 has been detected in 0.9% (1/110) of Han Chinese samples from China. The sample belonged to an individual from Jilin province.[22]

West Asia

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The haplogroup R-M124 frequency of 6.1% (6/114) was found among overall Kurds[23] while in one study which was done with 25 samples of Kurmanji Kurds from Georgia, R-M124 has been observed at 44% (11/25)[24]

In Caucasus high frequency was observed in Armenians from Sason at 17% (18/104)[25] while it was observed at %1 in Armenians from Van. R2 has been found in Chechens at 16%.[26] R-M124 has been found in approximately 8% (2/24) of a sample of Ossetians from Alagir.[27]

In the Caucasus, around 16% of Mountain Jews, 8% of Balkarians,[28] 6% of Kalmyks,[29] 3% of Azerbaijanis,[26] 2.6% of Kumyks,[30] 2.4% of Avars,[30] 2% of Armenians,[26] and 1% to 6% of Georgians[26][28][31] belong to the R-M124 haplogroup. Approximately 1% of Turks[32] and 1% to 3% of Iranians[33] also belong to this haplogroup.

In Iran R-M124 follows a similar distribution as R1a1 with higher percentages in the southeastern Iran. It has been found at Frequencies of 9.1% at Isfahan, 6.9% at Hormozgan and 4.2% in Mazandaran.[34]

Arab World

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Frequency of Haplogroup R-M124 in the Arab World from DNA studies
Count Sample Size R-M124 Frequency %
UAE[35] 8 217 3.69%
Qatar[36] 1 72 1.39%
Kuwait[37] 1 153 0.65%
Yemen[36] 1 104 0.96%
Jordan[38] 2 146 1.37%
Lebanon[39] 2 935 0.21%
Palestine[40] 1 49 2.04%
Egypt[41] 1 147 0.68%

In the R2-M124-WTY and R-Arabia Y-DNA Projects,[6][42] Haplogroup R-M124 has appeared in the following Arab countries: Kuwait (3 clusters), United Arab Emirates (1 cluster), Syrian Arab Republic (1 cluster), and Tunisia (1 cluster).

Thus, Haplogroup R-M124 has been observed among Arabs at low frequencies in 11 countries/territories (Egypt, Jordan, Kuwait, Lebanon, Palestine, Qatar, Syria, Tunisia, United Arab Emirates, and Yemen) of the 22 Arab countries/territories so far. In the Kingdom of Saudi Arabia so far has one family identified to have Haplogroup R2A (R-M124) of its paternal genome or Y-Chromosome updated 5 January; 2018.

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Haplogroup R-M124 is a subgroup of Haplogroup R-M479 (M479):

  • R-M479 (M479)
    • R-M124 (M124, P249, P267, L266)
      • R-L295 (L295)
      • R-L263 (L263)
      • R-L1069 (L1069)

Prediction with haplotypes

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Haplotype can be used to predict haplogroup. The chances of any person part of this haplogroup is the highest if DYS391=10, DYS392=10 and DYS426=12.

See also

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Y-DNA R-M207 subclades

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Y-DNA backbone tree

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Notes

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  1. ^ a b YFull Haplogroup YTree v5.05 at 30 July 2017
  2. ^ a b ISOGG (2010), "Y-DNA Haplogroup R and its Subclades - 2010."
  3. ^ FTDNA's Draft phylogeny tree, "FTDNA's Draft phylogeny tree Archived 2011-07-10 at the Wayback Machine."
  4. ^ Myres et al. (2010), "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe - 2010."
  5. ^ a b c Manoukian, Jean-Grégoire (2006), "A Synthesis of Haplogroup R2 - 2006."
  6. ^ a b c R2-M124-WTY (Walk Through the Y) Project, "R2-M124-WTY (Walk Through the Y) Project."
  7. ^ Narasimhan, Vagheesh M.; Patterson, Nick .; Moorjani, Priya; Lazaridis, Iosif; Mark, Lipson; Mallick, Swapan; Rohland, Nadin; Bernardos, Rebecca; Kim, Alexander M. (31 March 2018). "The Genomic Formation of South and Central Asia". bioRxiv: 292581. doi:10.1101/292581. hdl:21.11116/0000-0001-E7B3-0.
  8. ^ a b Kivisild, T.; et al. (2003), "The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations", The American Journal of Human Genetics, 72 (2): 313–32, doi:10.1086/346068, PMC 379225, PMID 12536373
  9. ^ a b c d Sahoo, S.; et al. (2006), "A prehistory of Indian Y chromosomes: Evaluating demic diffusion scenarios", Proceedings of the National Academy of Sciences, 103 (4): 843–8, Bibcode:2006PNAS..103..843S, doi:10.1073/pnas.0507714103, PMC 1347984, PMID 16415161
  10. ^ Kumar, Vikrant; et al. (2007). "Y-chromosome evidence suggests a common paternal heritage of Austro-Asiatic populations". BMC Evolutionary Biology. 7: 47. doi:10.1186/1471-2148-7-47. PMC 1851701. PMID 17389048.
  11. ^ a b Sharma, Swarkar; et al. (2009). "The Indian origin of paternal haplogroup R1a1* substantiates the autochthonous origin of Brahmins and the caste system". Journal of Human Genetics. 54 (1): 47–55. doi:10.1038/jhg.2008.2. PMID 19158816.
  12. ^ a b Tripathy, Vikal; Nirmala, A.; Reddy, B. Mohan (2008), "Trends in Molecular Anthropological Studies in India" (PDF), International Journal of Human Genetics, 8 (1–2): 1–20, doi:10.1080/09723757.2008.11886015, S2CID 12763485
  13. ^ a b c Sengupta, Sanghamitra; et al. (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". The American Journal of Human Genetics. 78 (2): 202–21. doi:10.1086/499411. PMC 1380230. PMID 16400607.
  14. ^ a b Zhao, Zhongming; et al. (2009). "Presence of three different paternal lineages among North Indians: A study of 560 Y chromosomes". Annals of Human Biology. 36 (1): 46–59. doi:10.1080/03014460802558522. PMC 2755252. PMID 19058044.
  15. ^ Eaaswarkhanth, Muthukrishnan; et al. (2009). "Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations". European Journal of Human Genetics. 18 (3): 354–63. doi:10.1038/ejhg.2009.168. PMC 2859343. PMID 19809480.
  16. ^ Firasat, Sadaf; et al. (2006). "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan". European Journal of Human Genetics. 15 (1): 121–6. doi:10.1038/sj.ejhg.5201726. PMC 2588664. PMID 17047675.
  17. ^ Lacau, Harlette (18 April 2012). "Afghanistan from a Y-chromosome perspective". European Journal of Human Genetics. 20 (10): 1063–1070. doi:10.1038/ejhg.2012.59. PMC 3449065. PMID 22510847.
  18. ^ Haber, Marc (28 March 2012). "Afghanistan's Ethnic Groups Share a Y-Chromosomal Heritage Structured by Historical Events". PLOS ONE. 7 (3): e34288. Bibcode:2012PLoSO...734288H. doi:10.1371/journal.pone.0034288. PMC 3314501. PMID 22470552.
  19. ^ Jabagin Maksat Kizatovich. ФЕДЕРАЛЬНОЕ ГОСУДАРСТВЕННОЕ БЮДЖЕТНОЕ УЧРЕЖДЕНИЕ НАУКИ ИНСТИТУТ ОБЩЕЙ ГЕНЕТИКИ им. Н.И. ВАВИЛОВА РОССИЙСКОЙ АКАДЕМИИ НАУК (PDF) (PhD). Russian Academy of Sciences.
  20. ^ a b c d e f g h Wells, R. Spencer; Yuldasheva, Nadira; Ruzibakiev, Ruslan; Underhill, Peter A.; Evseeva, Irina; Blue-Smith, Jason; Jin, Li; Su, Bing; Pitchappan, Ramasamy; Shanmugalakshmi, Sadagopal; Balakrishnan, Karuppiah; Read, Mark; Pearson, Nathaniel M.; Zerjal, Tatiana; Webster, Matthew T.; Zholoshvili, Irakli; Jamarjashvili, Elena; Gambarov, Spartak; Nikbin, Behrouz; Dostiev, Ashur; Aknazarov, Ogonazar; Zalloua, Pierre; Tsoy, Igor; Kitaev, Mikhail; Mirrakhimov, Mirsaid; Chariev, Ashir; Bodmer, Walter F. (28 August 2001). "The Eurasian Heartland: A continental perspective on Y-chromosome diversity". Proceedings of the National Academy of Sciences. 98 (18): 10244–10249. Bibcode:2001PNAS...9810244W. doi:10.1073/pnas.171305098. PMC 56946. PMID 11526236.
  21. ^ Zhong H, Shi H, Qi XB, et al. (January 2011). "Extended Y chromosome investigation suggests postglacial migrations of modern humans into East Asia via the northern route". Molecular Biology and Evolution. 28 (1): 717–27. doi:10.1093/molbev/msq247. PMID 20837606.
  22. ^ Yan, Shi; Wang, Chuan-Chao; Zheng, Hong-Xiang; Wang, Wei; Qin, Zhen-Dong; Wei, Lan-Hai; Wang, Yi; Pan, Xue-Dong; Fu, Wen-Qing; He, Yun-Gang; Xiong, Li-Jun; Jin, Wen-Fei; Li, Shi-Lin; An, Yu; Li, Hui; Jin, Li; Su, Bing (29 August 2014). "Y Chromosomes of 40% Chinese Descend from Three Neolithic Super-Grandfathers". PLOS ONE. 9 (8): e105691. arXiv:1310.3897. Bibcode:2014PLoSO...9j5691Y. doi:10.1371/journal.pone.0105691. PMC 4149484. PMID 25170956.
  23. ^ "Kurdish Genetics - DNA of the Kurds of Kurdistan (Iraq-Iran-Turkey)". www.khazaria.com. Retrieved 20 December 2019.
  24. ^ "[1]."
  25. ^ "[2]."
  26. ^ a b c d Nasidze I, Sarkisian T, Kerimov A, Stoneking M (March 2003). "Testing hypotheses of language replacement in the Caucasus: evidence from the Y-chromosome". Human Genetics. 112 (3): 255–61. doi:10.1007/s00439-002-0874-4. PMID 12596050. S2CID 13232436. [3] Archived 10 November 2007 at the Wayback Machine
    Manoukian (2006)
  27. ^ I. Nasidze, D. Quinque, I. Dupanloup et al., "Genetic Evidence Concerning the Origins of South and North Ossetians," Annals of Human Genetics (2004) 68, 588–599
  28. ^ a b 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
  29. ^ Ivan Nasidze, Dominique Quinque, Isabelle Dupanloup, Richard Cordaux, Lyudmila Kokshunova, and Mark Stoneking, "Genetic Evidence for the Mongolian Ancestry of Kalmyks," American Journal of Physical Anthropology 126:000–000 (2005).
  30. ^ a b Yunusbaev et al. (2006): 2/76 = 2.6% R-M124 Kumyks, 1/42 = 2.4% R-M124 Avars
  31. ^ Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, De Benedictis G, Francalacci P, Kouvatsi A, Limborska S, Marcikiae M, Mika A, Mika B, Primorac D, Santachiara-Benerecetti AS, Cavalli-Sforza LL, Underhill PA (November 2000). "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective" (PDF). Science. 290 (5494): 1155–9. Bibcode:2000Sci...290.1155S. doi:10.1126/science.290.5494.1155. PMID 11073453. Archived from the original (PDF) on 25 November 2003.
  32. ^ Cinnioğlu et al. (2003), "Excavating Y-chromosome haplotype strata in Anatolia Archived 2006-06-19 at the Wayback Machine."
  33. ^ Regueiro M, Cadenas AM, Gayden T, Underhill PA, Herrera RJ (2006). "Iran: tricontinental nexus for Y-chromosome driven migration". Human Heredity. 61 (3): 132–43. doi:10.1159/000093774. PMID 16770078. S2CID 7017701.
  34. ^ "[4]."
  35. ^ Alshamali, Farida; Pereira, Luísa; Budowle, Bruce; Poloni, Estella S.; Currat, Mathias (2009). "Local Population Structure in Arabian Peninsula Revealed by Y-STR Diversity". Human Heredity. 68 (1): 45–54. doi:10.1159/000210448. ISSN 0001-5652. PMID 19339785. S2CID 2751928.
  36. ^ a b Cadenas, Alicia M.; Zhivotovsky, Lev A.; Cavalli-Sforza, Luca L.; Underhill, Peter A.; Herrera, Rene J. (March 2008). "Y-chromosome diversity characterizes the Gulf of Oman". European Journal of Human Genetics. 16 (3): 374–386. doi:10.1038/sj.ejhg.5201934. ISSN 1476-5438. PMID 17928816. S2CID 32386262.
  37. ^ Mohammad, T.; Xue, Y.; Evison, M.; Tyler-Smith, C. (November 2009). "Genetic structure of nomadic Bedouin from Kuwait". Heredity. 103 (5): 425–433. doi:10.1038/hdy.2009.72. ISSN 1365-2540. PMC 2869035. PMID 19639002.
  38. ^ Flores, Carlos; Maca-Meyer, Nicole; Larruga, Jose M.; Cabrera, Vicente M.; Karadsheh, Naif; Gonzalez, Ana M. (September 2005). "Isolates in a corridor of migrations: a high-resolution analysis of Y-chromosome variation in Jordan". Journal of Human Genetics. 50 (9): 435–441. doi:10.1007/s10038-005-0274-4. ISSN 1435-232X. PMID 16142507. S2CID 6490283.
  39. ^ Zalloua, Pierre A.; Xue, Yali; Khalife, Jade; Makhoul, Nadine; Debiane, Labib; Platt, Daniel E.; Royyuru, Ajay K.; Herrera, Rene J.; Hernanz, David F. Soria; Blue-Smith, Jason; Wells, R. Spencer; Comas, David; Bertranpetit, Jaume; Tyler-Smith, Chris (11 April 2008). "Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events". American Journal of Human Genetics. 82 (4): 873–882. doi:10.1016/j.ajhg.2008.01.020. ISSN 0002-9297. PMC 2427286. PMID 18374297.
  40. ^ Myres et al. (2010), "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe."
  41. ^ Luis et al. (2004), "The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations Archived 2012-02-16 at the Wayback Machine."
  42. ^ R-Arabia Y-DNA Project, "R-Arabia Y-DNA Project."

References

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