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, West Asia and North Africa / MENA.
| Haplogroup R2a | |
|---|---|
| Possible time of origin | 14,700 [95% CI 13,200 <-> 16,100] years before present[1] |
| Coalescence age | 11,900 [95% CI 10,500 <-> 13,400] years before present[1] |
| Possible place of origin | Southwest Asia |
| Ancestor | R-M479 |
| Descendants | R-M124*, R-L295, R-L263, R-L1069 |
| Defining mutations | M124, P249, P267, L266 [2][3] |
Term history
editHaplogroup 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
editAccording 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
edit| Haplogroup R‑M124 |
| ||||||||||||
Paragroup R-M124*
editParagroup 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
editHaplogroup 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
editHaplogroup 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
editHaplogroup R-L1069 is a Y-chromosome haplogroup characterized by genetic marker L1069. It is found in Kuwait so far.[6]
Distribution
editR-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
editAncient 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
edit| 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
editAmong 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
editThe 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
editThe 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
edit38% of the Sinhalese of Sri Lanka were found to be R2 positive according to a 2003 research.[8]
Central Asia
editIn 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
editA 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 and North Africa
editThe 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]
In the R2-M124-WTY and R-Arabia Y-DNA Projects,[6][35] 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.
| Count | Sample Size | R-M124 Frequency % | |
|---|---|---|---|
| UAE[36] | 8 | 217 | 3.69% |
| Qatar[37] | 1 | 72 | 1.39% |
| Kuwait[38] | 1 | 153 | 0.65% |
| Yemen[37] | 1 | 104 | 0.96% |
| Jordan[39] | 2 | 146 | 1.37% |
| Lebanon[40] | 2 | 935 | 0.21% |
| Palestine[41] | 1 | 49 | 2.04% |
| Egypt[42] | 1 | 147 | 0.68% |
Position on the ISOGG tree and related SNPs
editHaplogroup 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)
- R-M124 (M124, P249, P267, L266)
Prediction with haplotypes
editHaplotype 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
editY-DNA R-M207 subclades
editY-DNA backbone tree
editNotes
edit- ^ a b YFull Haplogroup YTree v5.05 at 30 July 2017
- ^ a b ISOGG (2010), "Y-DNA Haplogroup R and its Subclades - 2010."
- ^ FTDNA's Draft phylogeny tree, "FTDNA's Draft phylogeny tree Archived 2011-07-10 at the Wayback Machine."
- ^ Myres et al. (2010), "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe - 2010."
- ^ a b c Manoukian, Jean-Grégoire (2006), "A Synthesis of Haplogroup R2 - 2006."
- ^ a b c R2-M124-WTY (Walk Through the Y) Project, "R2-M124-WTY (Walk Through the Y) Project."
- ^ 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.
- ^ 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
- ^ 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
- ^ 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.
- ^ 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.
- ^ 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
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ Jabagin Maksat Kizatovich. ФЕДЕРАЛЬНОЕ ГОСУДАРСТВЕННОЕ БЮДЖЕТНОЕ УЧРЕЖДЕНИЕ НАУКИ ИНСТИТУТ ОБЩЕЙ ГЕНЕТИКИ им. Н.И. ВАВИЛОВА РОССИЙСКОЙ АКАДЕМИИ НАУК (PDF) (PhD). Russian Academy of Sciences.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ "Kurdish Genetics - DNA of the Kurds of Kurdistan (Iraq-Iran-Turkey)". www.khazaria.com. Retrieved 20 December 2019.
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Manoukian (2006) - ^ 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
- ^ 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
- ^ 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).
- ^ a b Yunusbaev et al. (2006): 2/76 = 2.6% R-M124 Kumyks, 1/42 = 2.4% R-M124 Avars
- ^ 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.
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- ^ R-Arabia Y-DNA Project, "R-Arabia Y-DNA Project."
- ^ 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.
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References
edit- Manoukian, Jean-Grégoire (2006). "A Synthesis of Haplogroup R2" (PDF) (published 1 December 2006)..
- Sengupta S, Zhivotovsky LA, King R, Mehdi SQ, Edmonds CA, Chow CE, Lin AA, Mitra M, Sil SK, Ramesh A, Usha Rani MV, Thakur CM, Cavalli-Sforza LL, Majumder PP, Underhill PA (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". American Journal of Human Genetics. 78 (2): 202–21. doi:10.1086/499411. PMC 1380230. PMID 16400607.
- Zerjal T, Pandya A, Thangaraj K, Ling EY, Kearley J, Bertoneri S, Paracchini S, Singh L, Tyler-Smith C (March 2007). "Y-chromosomal insights into the genetic impact of the caste system in India". Human Genetics. 121 (1): 137–44. doi:10.1007/s00439-006-0282-2. PMC 2590678. PMID 17075717.