Haplogroup R (Y-DNA)
Haplogroup R | |
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Possible time of origin | 26,800 (19,900 - 34,300) years ago[1] |
Possible place of origin | Central Asia or South Asia |
Ancestor | P which origin is believed to be in west central Asia |
Descendants | R*, R1, R2 |
Defining mutations | R = 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. ref>Manfred Kayser et al 2002-03, Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a.</ref>
Subclades
Haplogroup R |
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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.[5]
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.[6] Kivisild et al. (2003) have reported finding R* in 3.4% (1/29) of a sample of Indians from Gujarat.[7]
R1
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.[10][11]
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.[8]
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.[12]
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.[13]
![](http://upload.wikimedia.org/wikipedia/commons/thumb/b/b0/Y-Haplogroup_R1_distribution.png/250px-Y-Haplogroup_R1_distribution.png)
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%).[10][3][14][15]
R1a has been variously associated with:
- the re-colonization of Eurasia during the Late Glacial Maximum.[10][16]
- the expansion of the Kurgan people from the Pontic-Caspian steppe, which is associated with the spread of the Indo-European languages.[10][3]
The Modern studies for R1a1 (M17) suggest that it may have originated in South Asia[17] 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.[18]
R1b
Haplogroup R1b predominates in Western Europe. It can be found at high frequency in Bashkortostan (Russia).[19] 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.[20]
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,[11] Spain,[10] and the Netherlands,[10] according to the Genographic Project conducted by the National Geographic Society.[21]
It is also found in Bashkortostan where its frequency surpasses 84%.[19] It is also present at lower frequencies throughout Eastern Europe.[22]
Although it is rare in South Asia, some populations show relatively high percentages for R1b. These include Lambadi (Andhra Pradesh) showing 37%,[23] Hazara 32%[24] and Agharia (East India) at 30%.[24] 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%).[23][24][25]
It is also found in North Africa where its frequency surpasses 10% in some parts of Algeria.[26]
R2
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).[27]
R2a
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.[28] 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.[29]
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]:
- R (M207/UTY2, P224, P227, P229, P232, P280, P285, S4, S8, S9, V45)
- R* Found with low frequency in Iran Pakistan and Gujarat (India)
- R1 (M173/P241, M306/S1,P225, P231, P233, P234, P236, P238, P242, P245, P286, P294) Fairly common throughout Europe, South Asia and Central Asia. It also occurs in Africa, Near East and Native americans from North America. Low frecuencies in Siberia, Malay Archipelago and Indigenous Australians
- R1* Found at low frequency in Middle East and South Asia
- R1a (L62/M513, L63/M511, L145/M449, L146/M420)
- R1a*
- R1a1 (SRY1532.2/SRY10831.2, L120/M516, L122/M448, M459)
- R1a1*
- R1a1a (M17, M198, M417, M512, M514, M515) Is typical in parts of Eastern Europe, Central Europe, South Asia and Central Asia. R1a1a also has a significant presence in the rest of Europe, Siberia, and the Middle East.
- R1b (M343)
- R1b*
- R1b1 (P25, L278)
- R1b1*
- R1b1a (V88) The majority was found in northern and central Africa
- R1b1b (P297) Spread in Europe, Caucasus and Near East
- R1b1b1 (M73) Typical of Bashkortostan (Russia) and Hazaras (Pakistan)
- R1b1b2 (M269, S3, S10, S13, S17, L265) Typical of populations of Western Europe and Perm region, with a moderate distribution throughout Eurasia
- R1b1c (M335)
- R2 (M479)
- R2* Found in Pakistan North, Lisbon (Portugal), Sevilla (Andalusia, Spain), Tatars (Bashkortostan, Russia), Italy North, and Osetins South (South Caucasus).
- R2a (L266, M124, P249, P267) Typical of populations of South Asia, with a moderate distribution in Central Asia and the Caucasus.
See also
- Human Y-chromosome DNA haplogroup
- Genealogical DNA test
- Prehistoric Europe
- Y-chromosome haplogroups by populations
- Conversion table for Y chromosome haplogroups
Notes
- ^ a b Karafet et al. (2008)
- ^ a b Y-DNA Haplogroup R and its Subclades - 2010 from ISOGG
- ^ 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.
- ^ 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
- ^ Manfred Kayser et al 2002-03, Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea.
- ^ 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.
- ^ 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.
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(help); Unknown parameter|author-separator=
ignored (help) - ^ a b Ripan Singh Malhi et al 2008, Distribution of Y Chromosomes Among Native North Americans: A Study of Athapaskan Population History.
- ^ Jeffrey T. Lell et al 2002 The Dual Origin and Siberian Affinities of Native American
- ^ a b c d e f Semino et al. 2000
- ^ a b Rosser et al. 2000
- ^ M. Regueiro et al., Iran: Tricontinental Nexus for Y-Chromosome Driven Migration, Human Heredity vol. 61 (2006), pp. 132–143.
- ^ http://www.scs.uiuc.edu/~mcdonald/WorldHaplogroupsMaps.pdf
- ^ 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...
- ^ Behar et al. (2003)
- ^ Passarino et al. (2002)
- ^ http://www.nature.com/ejhg/journal/v18/n4/full/ejhg2009194a.html
- ^ Underhill et al. (2009)
- ^ 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).
- ^ http://www.eupedia.com/europe/origins_haplogroups_europe.shtml
- ^ "Haplogroup R1 (M173)". The Genographic Project. National Geographic Society. Retrieved 2008-03-11.
- ^ 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.
- ^ a b Kivisild et al. (2005)
- ^ a b c Sengupta et al. (2005)
- ^ 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.
- ^ Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample
- ^ Myres et al. (2010), "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe - 2010."
- ^ Manoukian, Jean-Grégoire 2006, A Synthesis of Haplogroup R2
- ^ "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
- Luigi Luca Cavalli-Sforza (1994), The History and Geography of Human Genes, Princeton University Press ISBN 0-691-08750-4
- Karafet, T. M.; Mendez, F. L.; Meilerman, M. B.; Underhill, P. A.; Zegura, S. L.; Hammer, M. F. (2008), "New Binary Polymorphisms Reshape and Increase Resolution of the Human Y-Chromosomal Haplogroup Tree", Genome Research, 18 (5): 830, doi:10.1101/gr.7172008, PMC 2336805, PMID 18385274
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ignored (help). Published online April 2, 2008. See also Supplementary Material. - Semino; Passarino, G; Oefner, PJ; Lin, AA; Arbuzova, S; Beckman, LE; De Benedictis, G; Francalacci, P; Kouvatsi, A; et al. (2000), "The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans" (PDF), Science, vol. 290, no. 5494, p. 1155, doi:10.1126/science.290.5494.1155, PMID 11073453
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(help). - Wells; Yuldasheva, N; Ruzibakiev, R; Underhill, PA; Evseeva, I; Blue-Smith, J; Jin, L; Su, B; Pitchappan, R; et al. (2001), "The Eurasian Heartland: A continental perspective on Y-chromosome diversity" (PDF), PNAS, vol. 98, no. 18, p. 10244, doi:10.1073/pnas.171305098, PMC 56946, PMID 11526236
{{citation}}
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(help). - Passarino; Cavalleri, GL; Lin, AA; Cavalli-Sforza, LL; Børresen-Dale, AL; Underhill, PA; et al. (2002), "Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms", Eur. J. Hum. Genet., vol. 10, no. 9, pp. 521–9, doi:10.1038/sj.ejhg.5200834, PMID 12173029
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(help). - Behar; Thomas, MG; Skorecki, K; Hammer, MF; Bulygina, E; Rosengarten, D; Jones, AL; Held, K; Moses, V; et al. (2003), "Multiple Origins of Ashkenazi Levites: Y Chromosome Evidence for Both Near Eastern and European Ancestries" (– Scholar search), Am. J. Hum. Genet., vol. 73, no. 4, pp. 768–779, doi:10.1086/378506, PMC 1180600, PMID 13680527
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- Anjana, Saha; Swarkar, Sharma; Audesh, Bhat; Awadesh, Pandit; Ramesh, Bamezai (2005), "Genetic affinity among five different population groups in India reflecting a Y-chromosome gene flow", J Hum Genet, 50 (1): 49–51, doi:10.1007/s10038-004-0219-3, PMID 15611834.
{{citation}}
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ignored (help) - Sengupta; Zhivotovsky, LA; King, R; Mehdi, SQ; Edmonds, CA; Chow, CE; Lin, AA; Mitra, M; Sil, SK; et al. (2005), "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", Am. J. Hum. Genet., vol. 78, no. 2, pp. 202–21, doi:10.1086/499411, PMC 1380230, PMID 16400607
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(help).* C. Cinnioglu et al. (2004), Excavating Y-chromosome haplotype strata in Anatolia, Human Genetics 114(2):127-48. - Underhill; Myres, NM; Rootsi, S; Metspalu, M; Zhivotovsky, LA; King, RJ; Lin, AA; Chow, CE; Semino, O; et al. (2009), "Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a", European Journal of Human Genetics, 18 (4): 479–84, doi:10.1038/ejhg.2009.194, PMC 2987245, PMID 19888303
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External links
Phylogenetic tree of Y-DNA haplogroup R
- ISOGG 2011 tree of haplogroup R
- ISOGG 2010 tree of haplogroup R
- ISOGG 2009 tree of haplogroup R
- ISOGG 2008 tree of haplogroup R
- ISOGG 2007 tree of haplogroup R
- ISOGG 2006 tree of haplogroup R
- 2005 Y-Chromosme Phylogenetic Tree
- R branch of the haplotree
Other information of Y-DNA haplogroup R
- World and European haplogroup prevalence maps
- Video tutorial and Distribution maps of Y-DNA haplogroup R and its subclades
- Spread of Haplogroup R1, from The Genographic Project, National Geographic
- Spread of R1a1, from the Genographic Project, National Geographic
- Spread of R1b, from the Genographic Project, National Geographic
- Travels on a D.N.A. molecule - the first farmers
- Digging into Haplogroup R2 (Y-DNA)
- R2-M124-WTY (Walk Through the Y) Project
- R-Arabia Y-DNA Project