Haplogroup R2a

Haplogroup R2a
Possible time of origin 12,000 years BP
Possible place of origin South Asia or Central Asia
Ancestor R-M479
Descendants R-M124*, R-L295, R-L263, R-L1069
Defining mutations M124, P249, P267, L266 [1][2]

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, parts of Central and West Asia.

Term history

Haplogoup R2a is also known as haplogroup R-M124.[1] The first reference to the newly defined haplogroup, "R-M124", was on the 25th of August 2010.[3]

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.[4]

At least 90% of R-M124 individuals are located in the Indian sub-continent.[4] It is also reported in Caucasus and Central Asia at lower frequency..

Origins

According to the Genographic Project conducted by the National Geographic Society, Haplogroup R2a arose about 25,000 years ago in Central Asia [4] and its members migrated southward as part of the second[5] major wave of human migration into India.[6]

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.

The following is Manoukian's (2006) summary of the findings of the Genographic Project conducted by the National Geographic Society and directed by Spencer Wells (2001):

  • Haplogroup R, the ancestral clade to R1 and R2, appeared on the Central Asian Steppes around 35,000 to 30,000 years ago.
  • R1, sister clade to R2, moved to the West from the Central Asian Steppes around 35,000 to 30,000 years ago. R1 pockets were established, from where R1a and R1b emerged.
  • R2a [R-M124] made its first entry into the Indian sub-continent around 25,000 years ago. The routes taken are not clear, although the Indus and Ganges rivers are possible theories put forward. There could, of course, have been multiple immigrations of this haplogroup into the Indian sub-continent, both in the Paleolithic and the Neolithic.

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*.

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.[7]

Haplogroup R-L1069

Haplogroup R-L1069 is a Y-chromosome haplogroup characterized by genetic marker L1069. It is found in Kuwait so far.[7]

Distribution

At least 90% of R-M124 individuals are located in the Indian sub-continent.[4] It is also reported in Caucasus and Central Asia.

Manoukian's (2006) summary of Sengupta et al. (2006) is as follows:

  • Haplogroup R2a is present both in Dravidian, Indo-European populations, meaning that R2a has a pan-Indian presence, and not restricted to any linguistic group.
  • Haplogroup R2a has a more significant presence in middle and upper castes.
  • The frequencies of R2a seem to mirror the frequencies of R1a (i.e. both lineages are strong and weak in the same social and linguistic subgroups). This may indicate that both R1a and R2a moved into India at roughly the same time or cohabited, although more research is needed.
  • R1a1 and R2a haplogroups indicate demographic complexity that is inconsistent with a recent single history and is not inconsistent with a more proximal Central Asian input of the R2a haplogroup in the upper castes.
  • R2a has a particularly strong presence in the Indian states of West Bengal, Uttar Pradesh and Gujarat, and in the area of Mumbai (Bombay).
  • The paper claims that there is no evidence that Central Asia was the source of the R1a and R2a lineages in India. The theory that Central Asia could have been the recipient of the two lineages from India should not be ruled out. In addition, the data are not inconsistent with complex exchanges of this haplogroup between Central Asia and the Indian sub-continent, with the latter being both the source and the recipient at different times.

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.

North Indian Muslims have a frequency of 11%(Sunni) and 9%(Shia), while Dawoodi Bohra Muslim in the western state of Gujarat have a frequency of 16% and Mappla Muslims of South India have a frequency of 5%.[8] The R-M124 haplogroup is also found in 14% of the Burusho people who speak the language isolate called Burushaski.[9]

Some of the other studies like Bamshad et al., 2001, Kivisild et al., 2003 found Haplogroup 1(the old representation for non-R1a1 Haplogroup R subclades) at around 40% among Telugus of coastal Andhra Pradesh. The identification of this Haplogroup with R-M124 is confirmed from Sanghamitra Sahoo et al., 2006 study which observed R-M124 ranging from 35% to 55% among non-Brahmin castes of this region.

Haplogroup R-M124 comprises 53% of Y-chromosomes among Sinti, a subgroup of the Romani people living in Germany who were relocated to Central Asia, however the sample size was only 15 individuals. This Romani branch has its ancient roots in India.

Central Asia

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,[10] 7.1% (7/99) of Pamiris,[10] 6.8% (3/44) of Karakalpaks,[10] 5.1% (4/78) of Tajiks,[10] 5% (2/40) of Dungans in Kyrgyzstan,[10] 3.3% (1/30) of Turkmens,[10] 2.2% (8/366) of Uzbeks,[10] and 1.9% (1/54) of Kazakhs.[10]

West Asia

The haplogroup R-M124 frequency of %6.1 was found among Kurds.[11]

An R-M124 frequency of 15.8% was observed among Chechens.[12] R-M124 has been found in approximately 8% (2/24) of a sample of Ossetians from Alagir.[13]

In the Caucasus, around 16% of Mountain Jews, 8% of Balkarians,[14] 6% of Kalmyks,[15] 3% of Azerbaijanis,[12] 2.6% of Kumyks,[16] 2.4% of Avars,[16] 2% of Armenians,[12] and 1% to 6% of Georgians[12][14][17] belong to the R-M124 haplogroup. Approximately 1% of Turks[18] and 1% to 3% of Iranians[19] also belong to this haplogroup.

Arab World

Frequency of Haplogroup R-M124 in the Arab World from DNA studies
Count Sample Size R-M124 Fequency %
UAE[20] 8 217 3.69%
Qatar[21] 1 72 1.39%
Kuwait[22] 1 153 0.65%
Yemen[21] 1 104 0.96%
Jordan[23] 2 146 1.37%
Lebanon[24] 2 935 0.21%
Palestine[25] 1 49 2.04%
Egypt[26] 1 147 0.68%

In the R2-M124-WTY and R-Arabia Y-DNA Projects,[7][27] 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.

Position on the ISOGG tree and related SNPs

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

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

Evolutionary tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1[χ 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1 F2 F3 GHIJK
G HIJK
H IJK
IJ K
I J LT [χ 5]  K2
L T NO [χ 6] K2b [χ 7]   K2c K2d K2e [χ 8]
N O K2b1 [χ 9]    P
M S [χ 10] Q R
  1. ↑ Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation 35 (2): 187–91. doi:10.1002/humu.22468. PMID 24166809.
  2. ↑ International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. ↑ Haplogroup A0-T is also known as A0'1'2'3'4.
  4. ↑ Haplogroup A1 is also known as A1'2'3'4.
  5. ↑ Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. ↑ Haplogroup NO (M214) is also known as Haplogroup K2a (although the present Haplogroup K2e was also previously known as "K2a").
  7. ↑ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  8. ↑ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a, also known as Haplogroup NO).
  9. ↑ Haplogroup K2b1 (P397/P399) is similar to the former Haplogroup MS, but has a broader and more complex internal structure.
  10. ↑ Haplogroup S (S-M230) was previously known as Haplogroup K5.

Notes

  1. 1 2 ISOGG (2010), "Y-DNA Haplogroup R and its Subclades - 2010."
  2. ↑ FTDNA's Draft phylogeny tree, "FTDNA's Draft phylogeny tree."
  3. ↑ Myres et al. (2010), "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe - 2010."
  4. 1 2 3 4 Manoukian, Jean-Grégoire (2006), "A Synthesis of Haplogroup R2 - 2006."
  5. ↑ The first consisted of African migrants who traveled along the Indian coastline some 50,000 to 60,000 years ago.
  6. ↑ National Geographic Society (2005). "The Genographic Project". Washington DC: National Geographic Society. |contribution= ignored (help).
  7. 1 2 3 R2-M124-WTY (Walk Through the Y) Project, "R2-M124-WTY (Walk Through the Y) Project."
  8. ↑ Muthukrishnan Eaaswarkhanth, Ikramul Haque, Zeinab Ravesh, Irene Gallego Romero, Poorlin Ramakodi Meganathan, Bhawna Dubey, Faizan Ahmed Khan, Gyaneshwer Chaubey, Toomas Kivisild, Chris Tyler-Smith, Lalji Singh and Kumarasamy Thangaraj. "Traces of sub-Saharan and Middle Eastern lineages in Indian Muslim populations".
  9. ↑ Firasat S, Khaliq S, Mohyuddin A, Papaioannou M, Tyler-Smith C, Underhill PA, Ayub Q. "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan".
  10. 1 2 3 4 5 6 7 8 R.Spencer Wells et al, The Eurasian Heartland: A continental perspective on Y-chromosome diversity, PNAS August 28, 2001, vol. 98 no. 18, pp.10244-10249.
  11. ↑ "Kurdish Genetics: Abstracts and Summaries".
  12. 1 2 3 4 Nasidze I, Sarkisian T, Kerimov A, Stoneking M (Mar 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.
    Manoukian (2006)
  13. ↑ 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
  14. 1 2 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
  15. ↑ 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).
  16. 1 2 Yunusbaev et al. (2006): 2/76 = 2.6% R-M124 Kumyks, 1/42 = 2.4% R-M124 Avars
  17. ↑ 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 (Nov 2000). "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective" (PDF). Science 290 (5494): 1155–9. doi:10.1126/science.290.5494.1155. PMID 11073453.
  18. ↑ Cinnioğlu et al. (2003), "Excavating Y-chromosome haplotype strata in Anatolia."
  19. ↑ 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.
  20. ↑ Alshamali et al. (2009), "Local Population Structure in Arabian Peninsula Revealed by Y-STR Diversity."
  21. 1 2 Cadenas et al. (2007), "Y-chromosome diversity characterizes the Gulf of Oman."
  22. ↑ Mohammad et al. (2009), "Genetic structure of nomadic Bedouin from Kuwait."
  23. ↑ Flores et al. (2005), "Isolates in a corridor of migrations: a high-resolution analysis of Y-chromosome variation in Jordan."
  24. ↑ Zalloua et al. (2008), "Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events."
  25. ↑ Myres et al. (2010), "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe."
  26. ↑ Luis et al. (2004), "The Levant versus the Horn of Africa: Evidence for Bidirectional Corridors of Human Migrations."
  27. ↑ R-Arabia Y-DNA Project, "R-Arabia Y-DNA Project."

References

  • Manoukian, Jean-Grégoire (2006). "A Synthesis of Haplogroup R2" (PDF) (published 2006-12-01). .
  • 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 (Feb 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 (Mar 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. 
  • Sharma S, Rai E, Sharma P, Jena M, Singh S, Darvishi K, Bhat AK, Bhanwer AJ, Tiwari PK, Bamezai RN (Jan 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. 

External links

This article is issued from Wikipedia - version of the Sunday, April 17, 2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.