Biology:Haplogroup R-M124

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Short description: Human Y-chromosome DNA haplogroup
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 originSouth Asia[citation needed]
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

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

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

Haplogroup R‑M124 
 

 Paragroup R-M124*

 
 

 Haplogroup R-L295

 
 

 Haplogroup R-L263

 
 

 Haplogroup R-L1069

 
 

Paragroup R-M124*

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

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

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

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

Distribution

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

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

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

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

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

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

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

Central Asia

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

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

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

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.

Position on the ISOGG tree and related SNPs

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

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

Y-DNA R-M207 subclades

Y-DNA backbone tree

Notes

  1. ↑ 1.0 1.1 YFull Haplogroup YTree v5.05 at 30 July 2017
  2. ↑ 2.0 2.1 ISOGG (2010), "Y-DNA Haplogroup R and its Subclades - 2010."
  3. ↑ FTDNA's Draft phylogeny tree, "FTDNA's Draft phylogeny tree ."
  4. ↑ Myres et al. (2010), "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe - 2010."
  5. ↑ 5.0 5.1 5.2 Manoukian, Jean-Grégoire (2006), "A Synthesis of Haplogroup R2 - 2006."
  6. ↑ 6.0 6.1 6.2 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 et al. (31 March 2018). "The Genomic Formation of South and Central Asia" (in en). bioRxiv: 292581. doi:10.1101/292581. https://www.biorxiv.org/content/early/2018/03/31/292581. 
  8. ↑ 8.0 8.1 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, PMID 12536373 
  9. ↑ 9.0 9.1 9.2 9.3 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, doi:10.1073/pnas.0507714103, PMID 16415161, Bibcode: 2006PNAS..103..843S 
  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. PMID 17389048. 
  11. ↑ 11.0 11.1 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. ↑ 12.0 12.1 Tripathy, Vikal; Nirmala, A.; Reddy, B. Mohan (2008), "Trends in Molecular Anthropological Studies in India", International Journal of Human Genetics 8 (1–2): 1–20, doi:10.1080/09723757.2008.11886015, http://www.krepublishers.com/02-Journals/IJHG/IJHG-08-0-000-000-2008-Web/IJHG-08-1-2-001-256-2007-Abst-PDF/IJHG-08-1-2-001-08-342-Tripathy-V/IJHG-08-1&2-001-08-342-Tripathy-V-Tt.pdf 
  13. ↑ 13.0 13.1 13.2 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. PMID 16400607. 
  14. ↑ 14.0 14.1 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. 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. 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. 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. 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. doi:10.1371/journal.pone.0034288. PMID 22470552. Bibcode: 2012PLoSO...734288H. 
  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. ↑ 20.0 20.1 20.2 20.3 20.4 20.5 20.6 20.7 Wells, R. Spencer; Yuldasheva, Nadira; Ruzibakiev, Ruslan; Underhill, Peter A.; Evseeva, Irina; Blue-Smith, Jason; Jin, Li; Su, Bing et al. (28 August 2001). "The Eurasian Heartland: A continental perspective on Y-chromosome diversity". Proceedings of the National Academy of Sciences 98 (18): 10244–10249. doi:10.1073/pnas.171305098. PMID 11526236. Bibcode: 2001PNAS...9810244W. 
  21. ↑ "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. January 2011. 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 et al. (29 August 2014). "Y Chromosomes of 40% Chinese Descend from Three Neolithic Super-Grandfathers". PLOS ONE 9 (8): e105691. doi:10.1371/journal.pone.0105691. PMID 25170956. Bibcode: 2014PLoSO...9j5691Y. 
  23. ↑ "Kurdish Genetics - DNA of the Kurds of Kurdistan (Iraq-Iran-Turkey)". http://www.khazaria.com/genetics/kurds.html. 
  24. ↑ "[1]."
  25. ↑ "[2]."
  26. ↑ 26.0 26.1 26.2 26.3 "Testing hypotheses of language replacement in the Caucasus: evidence from the Y-chromosome". Human Genetics 112 (3): 255–61. Mar 2003. doi:10.1007/s00439-002-0874-4. PMID 12596050.  [3]
    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. ↑ 28.0 28.1 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. ↑ 30.0 30.1 Yunusbaev et al. (2006): 2/76 = 2.6% R-M124 Kumyks, 1/42 = 2.4% R-M124 Avars
  31. ↑ "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective". Science 290 (5494): 1155–9. Nov 2000. doi:10.1126/science.290.5494.1155. PMID 11073453. Bibcode: 2000Sci...290.1155S. http://hpgl.stanford.edu/publications/Science_2000_v290_p1155.pdf. 
  32. ↑ Cinnioğlu et al. (2003), "Excavating Y-chromosome haplotype strata in Anatolia ."
  33. ↑ "Iran: tricontinental nexus for Y-chromosome driven migration". Human Heredity 61 (3): 132–43. 2006. doi:10.1159/000093774. PMID 16770078. 
  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" (in english). Human Heredity 68 (1): 45–54. doi:10.1159/000210448. ISSN 0001-5652. PMID 19339785. https://www.karger.com/Article/PDF/000210448. 
  36. ↑ 36.0 36.1 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" (in en). European Journal of Human Genetics 16 (3): 374–386. doi:10.1038/sj.ejhg.5201934. ISSN 1476-5438. PMID 17928816. 
  37. ↑ Mohammad, T.; Xue, Y.; Evison, M.; Tyler-Smith, C. (November 2009). "Genetic structure of nomadic Bedouin from Kuwait" (in en). Heredity 103 (5): 425–433. doi:10.1038/hdy.2009.72. ISSN 1365-2540. 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" (in en). Journal of Human Genetics 50 (9): 435–441. doi:10.1007/s10038-005-0274-4. ISSN 1435-232X. PMID 16142507. 
  39. ↑ Zalloua, Pierre A.; Xue, Yali; Khalife, Jade; Makhoul, Nadine; Debiane, Labib; Platt, Daniel E.; Royyuru, Ajay K.; Herrera, Rene J. et al. (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. 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 ."
  42. ↑ R-Arabia Y-DNA Project, "R-Arabia Y-DNA Project."

References

External links



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