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Haplogroup R (Y-DNA)

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Haplogroup R
Possible time of origin26,800 (19,900 - 34,300) years ago[1]
Possible place of originCentral Asia or South Asia
AncestorP which origin is believed to be in west central Asia
DescendantsR*, R1, R2
Defining mutationsR = M207 (UTY2), P224, P227, P229, P232, P280, P285, S4, S8, S9 and V45.[2]
:R1 = M173
::R1a = L62, L63
::R1b = M342
:R2 = M479
::R2a = L266, M124, P249, and P267.

In human genetics, haplogroup R is a Y-chromosome DNA haplogroup very common throughout Europe, Central Asia and South Asia, and also common in parts of the Middle East and Africa. It is a subgroup of haplogroup P and it is defined by the M207 SNP mutation.

Origins

This haplogroup is believed to have arisen around 20,000-34,000 years ago,[1] somewhere in Central Asia or South Asia, where its ancestor Haplogroup P is most often found at polymorphic frequencies.[3] Cambridge University geneticist Kivisild et al. 2003[4] suggests that southern and western Asia might be the source of this haplogroup:

"Given the geographic spread and STR diversities of sister clades R1 and R2, the latter of which is restricted to India, Pakistan, Iran, and southern central Asia, it is possible that southern and western Asia were the source for R1 and R1a differentiation."

The two currently defined subclades are R1 and R2. Haplogroup R1 is estimated to have arisen during the height of the Last Glacial Maximum (LGM), about 18,500 years ago, most likely in southwestern Asia. The two most common descendant clades of haplogroup R1 are R1a and R1b. Its origin and dispersal patterns are poorly understood as no marker distinguishs European R1a chromosomes from Asian and today is most frequently observed in south Asia and eastern Europe. [5]

Subclades

Haplogroup R 
 Haplogroup R1

 Paragroup R1*

 Haplogroup R2

 Paragroup R2*

Distribution

Y-haplogroup R is found throughout all continents, but is fairly common throughout Europe, South Asia and Central Asia. In these regions the distribution is markedly different for the two major subclades R1a and R1b.

It is important in Native Americans and it also occurs in Caucasus, Near East, West China, Siberia and some parts of Africa.

Small frequencies are found in Malaysia, Indonesia, Philippines, Korea and Indigenous Australians.[6]

Subclades

Paragroup R*

Y-chromosomes which possess the marker M207 (which defines Haplogroup R), but neither of the markers for its subgroups, are categorised as belonging to group R*. However, R* is exceedingly rare. According to Firasat et al. (2007), R* has been found in 10.3% (10/97) of a sample of Burusho, 6.8% (3/44) of a sample of Kalash, and 1.0% (1/96) of a sample of Pashtuns from northern Pakistan in addition to 0.63% (4/638) of an ethnically mixed Pakistani sample.[7] Kivisild et al. (2003) have reported finding R* in 3.4% (1/29) of a sample of Indians from Gujarat.[8]

R1

File:Haplogroup R (Y-DNA).PNG
Spread of Haplogroup R in Native populations. The presence of R1 in the American continent is still uncertain and it is probably the result of recent European admixture[9] or came from Siberia.[10]
Main article: Haplogroup R1 (Y-DNA)

The majority of members of haplogroup R belong to its subgroup R1, defined by marker M173. R1 is very common throughout Europe and western Eurasia in the form of its subclades R1a1a-M17 and R1b1b2-M269.[11][12]

R1 is the second most important haplogroup in Indigenous peoples of the Americas following haplogroup Q, and spreads specially in Algonquian peoples from United States and Canada.[9]

R1*

The Haplogroup R1* is very rare. Examples have been found in Turkey, Pakistan and India, but the highest frequency so far discovered is in Iran.[13]

R1a

R1a is typical in populations of Eastern Europe, Indian Subcontinent and parts of Central Asia. It has a significant presence in Northern Europe, Central Europe, Afghanistan, Altaians and Xinjiang (China) as well as in Siberia. R1a can be found in low frequencies in the Middle East, mostly in Indo-European speakers or their descendants.[14]

Distribution of R1a (purple) and R1b (red).
Main article: Haplogroup R1a (Y-DNA)

The highest levels of R1a (>50%) are found across the Eurasian Steppe: and South Asia, the highest frequency reaches amongst West Bengal Brahmins (72%), and Uttar Pradesh Brahmins, (67%), the Ishkashimi (68%), the Tajik population of Khojant (64%), Kyrgyz (63.5%), Sorbs (63.39%), Poles (56.4%), Ukrainians (50%) and Russians (50%).[11][3][15][16]

R1a has been variously associated with:

The Modern studies for R1a1 (M17) suggest that it may have originated in South Asia[18] and have found its way initially from Western India (Gujarat) through Pakistan and Kashmir, then via Central Asia and Russia, before finally coming to Europe"..."as part of an archaeologically dated Paleolithic movement from east to west 30,000 years ago.[19]

R1b

Main article: Haplogroup R1b (Y-DNA)

Haplogroup R1b predominates in Western Europe. It can be found at high frequency in Bashkortostan (Russia).[20] Low frequency in Central Asia, Middle East, South Asia as well as North Africa. There is an isolated pocket of R1b in Sub Saharan Africa.[21]

R1b is thought to have originated in Central Asia, the Middle East, or Anatolia. It is prolific in Western Europe, where frequencies of 70% or more have been found in populations from Ireland,[12] Spain,[11] and the Netherlands,[11] according to the Genographic Project conducted by the National Geographic Society.[22]

It is also found in Bashkortostan where its frequency surpasses 84%.[20] It is also present at lower frequencies throughout Eastern Europe.[23]

Although it is rare in South Asia, some populations show relatively high percentages for R1b. These include Lambadi (Andhra Pradesh) showing 37%,[24] Hazara 32%[25] and Agharia (East India) at 30%.[25] Besides these, R1b has appeared in Balochi (8%), Chenchu (2%), Makrani (5%), Newars (Nepal) (10.6%), Pallan (3.5%), Pathan (10%), Punjabi (7.6%) and West Bengalis (6.5%).[24][25][26]

It is also found in North Africa where its frequency surpasses 10% in some parts of Algeria.[27]

R2

Main article: Haplogroup R2 (Y-DNA)

Haplogroup R2 is defined by the presence of the marker M479.

R2*

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 M479 SNP and negative to the M124, L266, P249, P267, and PAGES00004 SNPs, are categorized as belonging to Paragroup R2*.

Paragroup R2* (M124-) is found in Pakistan North, Lisbon (Portugal), Sevilla (Andalusia, Spain), Tatars (Bashkortostan, Russia), Italy North, and Osetins South (South Caucasus).[28]

R2a

Main article: Haplogroup R2a (Y-DNA)

Haplogroup R2a is a subgroup of haplogroup R2. Haplogroup R2a is defined by the presence of the markers M124, L266, P249, P267, & PAGES00004. At least 90% of R2a individuals are located in the Indian sub-continent.[29] It is also reported in Caucasus and Central Asia.

R2a may have arisen in southern Central Asia, and its members migrated southward as part of the second major wave of human migration into India.[30]

Tree

The subclades of haplogroup R with their defining mutation, according to the stratification chart published by the 2010 International Society of Genetic Genealogy (ISOGG)[2]:

See also

Notes

  1. ^ a b Karafet et al. (2008)
  2. ^ a b Y-DNA Haplogroup R and its Subclades - 2010 from ISOGG
  3. ^ a b c 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.
  4. ^ Kivisild et al.2003, The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations. Am. J. Hum. Genet. 72:313–332, 2003
  5. ^ European Journal of Human Genetics (2010) 18, 479–484; doi:10.1038/ejhg.2009.194; published online 4 November 2009, Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a.
  6. ^ Manfred Kayser et al 2002-03, Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea.
  7. ^ Firasat, Sadaf; Khaliq, Shagufta; Mohyuddin, Aisha; Papaioannou, Myrto; Tyler-Smith, Chris; Underhill, Peter A; Ayub, Qasim (2007), "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan", European Journal of Human Genetics, 15 (1): 121–126, doi:10.1038/sj.ejhg.5201726, PMC 2588664, PMID 17047675.
  8. ^ Kivisild, T.; Rootsi, S; Metspalu, M; Mastana, S; Kaldma, K; Parik, J; Metspalu, E; Adojaan, M; Tolk, HV (2003), "The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations", American Journal of Human Genetics, 72 (2): 313–332, doi:10.1086/346068, PMC 379225, PMID 12536373. {{citation}}: Cite has empty unknown parameter: |author-name-separator= (help); Unknown parameter |author-separator= ignored (help)
  9. ^ a b Ripan Singh Malhi et al 2008, Distribution of Y Chromosomes Among Native North Americans: A Study of Athapaskan Population History.
  10. ^ Jeffrey T. Lell et al 2002 The Dual Origin and Siberian Affinities of Native American
  11. ^ a b c d e f Semino et al. 2000
  12. ^ a b Rosser et al. 2000
  13. ^ M. Regueiro et al., Iran: Tricontinental Nexus for Y-Chromosome Driven Migration, Human Heredity vol. 61 (2006), pp. 132–143.
  14. ^ http://www.scs.uiuc.edu/~mcdonald/WorldHaplogroupsMaps.pdf
  15. ^ High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations - Pericic et al. 22 (10): 1964 - Molecular Bi...
  16. ^ Behar et al. (2003)
  17. ^ Passarino et al. (2002)
  18. ^ http://www.nature.com/ejhg/journal/v18/n4/full/ejhg2009194a.html
  19. ^ Underhill et al. (2009)
  20. ^ a b A. S. Lobov et al. (2009), "Structure of the Gene Pool of Bashkir Subpopulations" (original text in Russian) Cite error: The named reference "Lobov2009" was defined multiple times with different content (see the help page).
  21. ^ http://www.eupedia.com/europe/origins_haplogroups_europe.shtml
  22. ^ "Haplogroup R1 (M173)". The Genographic Project. National Geographic Society. Retrieved 2008-03-11.
  23. ^ B. Arredi, E. S. Poloni and C. Tyler-Smith, The peopling of Europe, in M. Crawford (ed.), Anthropological Genetics: Theory, methods and applications (2007), p. 394.
  24. ^ a b Kivisild et al. (2005)
  25. ^ a b c Sengupta et al. (2005)
  26. ^ Gayden, T; Cadenas, AM; Regueiro, M; Singh, NB; Zhivotovsky, LA; Underhill, PA; Cavalli-Sforza, LL; Herrera, RJ (2007), "The Himalayas as a directional barrier to gene flow.", American journal of human genetics, 80 (5): 884–94, doi:10.1086/516757, PMC 1852741, PMID 17436243.
  27. ^ Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample
  28. ^ Myres et al. (2010), "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe - 2010."
  29. ^ Manoukian, Jean-Grégoire 2006, A Synthesis of Haplogroup R2
  30. ^ "The Genographic Project". National Geographic Society. Retrieved 2008-03-13.. The first wave consisted of African migrants who traveled along the Indian coastline some 50,000 to 60,000 years ago.

References

Phylogenetic tree of Y-DNA haplogroup R

Other information of Y-DNA haplogroup R

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