Haplogroup R1a1 (Y-DNA)
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In human genetics, Haplogroup R1a1 (M17) is a Y-chromosome haplogroup that is spread across Eurasia.
It is common in Europe, Central Asia, and South Asia. High R1a1 frequencies are detected in populations of Ishkashimi (68%), Tajiks (64%), and Kyrgyz (63%).[1][2] In Europe, the highest frequencies are found in Central and Eastern Europe. Today it is found at its highest levels in Hungary (60%, 20%), Poland (56%), Ukraine (54%[3] or 44%), and Russia, where one out of two men has this haplogroup. Relatively high frequencies are also found in Northern Europe (the largest being 23% in Iceland).
The gene has proven to be a diagnostic Indo-Iranian marker[4] and is believed to have lifted on people who left a clear pattern of archaeological remains known as the Kurgan culture, generally identified as early Indo-Europeans, and later by the Vikings,[5] which accounts for the existence of it in, among other places, the British Isles[6][7] Lower frequencies of R1a1 are found among populations of West Asia. Iran appears to have had little genetic influence from the R1a1-carrying Indo-Iranians,[8] attributed to language replacement through the "elite-dominance" model.
The R1a1 is a specific sequence of nucleotides in Y Male chromosome. A single mutation, in one male, who carried R1, occurred in one time. All men who have now R1a1 are direct straight line descendants of that ancestor, R1a1 originator. When other genes cross over the genome genetic composition may be quite different and only the Y chromosome will mark one road. Bryan Sykes in his book Blood of the Isles gives the populations associated with R1a in Europe the name of Sigurd for a clan patriarch, much as he did for mitochondrial haplogroups in his work The Seven Daughters of Eve.
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[edit] Origins
The first carriers of the R1a1 haplotype are believed to have been peoples living about 15,000 years ago[9] confined by an area within the Ukrainian LGM refuge. The gene spread by a nomadic lifestyle and proliferated on Eurasian steppes. Current theories point to the gene being tied to speakers of the Proto-Indo-European language in the Kurgan scenario, spreading the gene further to Asia and most of Europe. The low occurrence of R1a1 in Western European Indo-European speaking populations, most notably the region west of the Vistula[10] shows that this correlation with PIE cannot be extended to the "kurganized" western Corded ware and subsequent Beaker culture.[11][12]
Highest haplotype incidence suggests that haplogroup R1a1 originated among the ancestors of the Balto-Slavic speakers of Eastern and Central Europe.
[edit] Europe
R1a1 is spread across the whole of Europe, with the highest concentrations found in Eastern Europe and Northern Europe. The two main directional components of the spread are consistent with an East to West migration as well as a radial spread from the Balkans. The latter is claimed to be a trace of the re-population of Europe after the Last Glacial Maximum from the Ukrainian refuge area. [7]
"At least three major episodes of gene flow might have enhanced R1a variance in the region: early post-LGM recolonizations expanding from the refugium in Ukraine, migrations from northern Pontic steppe between 3000 and 1000 B.C., as well as possibly massive Slavic migration from A.D. 5th to 7th centuries." ref The last possibility is less probable, the distribution of Paleolithic pattern depth is unexplained by massive people flow. Genetic data support autochtonic school of Slovian historiography.
[edit] India
- Further information: Genetics and Archaeogenetics of South Asia: R1a1 and R2
In India initial studies with limited samples observed a correlation between the Brahmin caste and the R1a haplogroup which was consistent with an Indo-Aryan migration from Central Asia (Bamshad et al. 2001), in line with earlier suggestions (Cavalli-Sforza 1994). The frequency gradients of the haplogroup, falling off eastward across Siberia to the Altai mountains and southward into India, were held to perfectly reflect the inferred migrations of the (pre-)Proto-Indo-Iranians and Indo-Iranians during the period 3000 to 1000 BC (Wells et al 2001). The northern migration theory is also supported by the dating of the haplogroup (Wells et al 2003).
However, another study showed the R1a lineage forms around 35-45% among all the castes in North Indian population (Namita Mukherjee et al. 2001) and the Badagas of the Nilgiris making the association with the Brahmin caste more vague. A further study (Saha et al 2005) examined R1a1 in South Indian tribals and Dravidian population groups more closely, and questioned the concept of its Indo-Iranian origin. Most recently Sengupta et al. (2006) have confirmed R1a's diverse presence including even Indian tribal and lower castes (the so-called untouchables) and populations not part of the caste system. From the diversity and distinctiveness of microsatellite Y-STR variation they conclude that there must have been an independent R1a1 population in India dating back to a much earlier expansion than the Indo-Aryan migration.
According to Sengupta et al.[13], R1* is virtually absent in Southeast and East Asia.
[edit] Relationship to other haplogroups
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R1a1 is a subgroup of Haplogroup R (M207).
- Haplogroup R (M207)
- Haplogroup R1 (M173)
- Haplogroup R1a (SRY10831.2-)
- Haplogroup R1a1 (M17)
- R1a1a M56
- R1a1b M157
- R1a1c M64.2, M87 ref
- Haplogroup R1a*
- Haplogroup R1a1 (M17)
- Haplogroup R1b (M343)
- Haplogroup R1a (SRY10831.2-)
- Haplogroup R2 (M124)
- Haplogroup R1 (M173)
It is related to Haplogroup R1b (M343), which is dominant in Western Europe, and more distantly related to Haplogroup R2 (M124).
| Haplogroup R |
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[edit] Frequency distribution
R1a frequency is expressed as percentage of population samples.
[edit] Europe
N R1 R1a source
Sorbs 112 - 63.39 2
Hungarian 45 13.3 60.0 1 ?-14
Poles 55 16.4 56.4 1,14
Ukrainian 50 2.0 54.0 1,14
Belarusian 306 50.98 2 ?-14
Russian 122 7.0 47.0 14
Belarusian - 46 4
Belarusian 41 10.0 39.0 14
Ukrainian - 44 3 ?
Ukrainians, Rashkovo 53 41.5 10 ?
Russian, North 49 0 43 5
Latvian 34 15.0 41.0 14
Udmurt 43 11.6 37.2 1
Pomor 28 0 36 5
Macedonian 20 10.0 35.0 1
Moldavians, Karahasan 72 34.7 10
Lithuanian 38 6 34 14
Croatian 58 10.3 29.3 1
UK Orkney 26 65 27 5
Gagauzes, Etulia 41 26.8 10
Czech + Slovakian 45 35.6 26.7 1,14
Norvegian 83 26.5 13
Icelander 181 41.4 23.8 14
Norvegian 87 21.69 2
Moldavians, Sofia 54 20.4 10
Romanians 54 20.4 10 (Buhusi, Piatra-Neamt)
Hungarian 45 13.3 20.4 14
Orcandin 71 66.0 19.7 14
Swedish (Northern) 48 23.0 19.0 14
Swedish 110 20.0 17.3 14
Danish 12 41.7 16.7 14
Mari 46 0 13.0 1
German 88 12.50 2
German 48 47.9 8.1 14
Greek 76 27.6 11.8 1
Albanian 51 17.6 9.8 1
Lebanese 31 6.4 9.7 1
Saami 24 8.3 8.3 1
UK Isle of Man 62 15 8 11
UK Orkney 121 23 7 11 ?? 7% <> 23% *5
UK 309 ~7 13 see references
Georgian 63 ` 14.3 7.9 1
Turkish 30 6.6 6.6 1
UK Shetland 63 17 6 11
UK Chippenham 51 16 6 11
UK Cornwall 52 25 6 11
Dutch 27 70.4 3.7 1
German 16 50.0 6.2 1
Italian central/north 50 62.0 4.0 1
Brithish ~1000 ~4 11
Irish 222 81.5 0.5 14
Calabrian 37 32.4 0 1
Sardinian 77 22.1 1
Brithish 25 72 0 5
Poles 913 9
Germans 1215 9
Dniester-Carpathian - 50.06 10
Gagauzes, Kongaz 48 12.5 10
empty or - = no data in sample. ? = datasets differences, [?-x]:= ^x=# source
- 1 http://hpgl.stanford.edu/publications/Science_2000_v290_p1155.pdf
- 2 http://www.familytreedna.com/pdf/Levite%20paper.pdf
- 3 http://www.springerlink.com/content/r60m403330h204l0/
- 4 http://www.springerlink.com/content/n2883j06628r5515/
- 9 http://www.springerlink.com/content/w75j6048545350g5/
- 9 http://www.springerlink.com/content/w75j6048545350g5/
- 10 http://edoc.ub.uni-muenchen.de/archive/00005868/01/Varzari_Alexander.pdf
- 11 http://www.ucl.ac.uk/tcga/tcgapdf/capelli-CB-03.pdf, table 1, more data % < 6
- 13 http://mbe.oxfordjournals.org/cgi/reprint/19/7/1008.pdf
- 14 http://mbe.oxfordjournals.org/cgi/content/full/22/10/1964/TBL1 + (15'th primary sources?)
[edit] Asia
N R1(%) R1a1(%) Published
Ishkashimi 25 4 68 Spencer Wells,2001(*5)
Tajiks - 64 (*6)
Tajiks/Khojant 22 64 Spencer Wells,2001(*5)
Tajiks/Dushanbe 16 19 Spencer Wells,2001(*5)
Tajiks/Samarkand 40 25 Spencer Wells,2001(*5)
Kyrgyz 52 2 63 Spencer Wells,2001(*5)
Tashkent IE 69 7 47 ?
India Upper Caste 86 - 45.35 (*8)
Sourasthran 46 0 39 Spencer Wells,2001(*5)
Abkhazians 12 8 33 Nasidze,2004(*7)
Kazan Tatar 38 3 24 Spencer Wells,2001(*5)
Saami 23 9 22 Spencer Wells,2001(*5)
Iran (Tehran) 24 4 4 Spencer Wells,2001(*5)
Iran (Tehran) 80 8 20 Nasidze,2004(*7)
Iran (Isfahan) 50 0 18 Nasidze,2004(*7)
Pakistan ?? 85 1.10 16.47 (*8)?
Pakistan 175 0.57 24.43 (*8)?
Pakistan south 91 0 31.87 (*8)?
India 728 0 15.8 (*8)?
India 325 0.3 27 (*12)?
Tuvian 42 2 14 Spencer Wells,2001(*5)
Abazinians 14 0 14 Nasidze,2004(*7)
Turks 39 31 13 Nasidze,2004(*7)
Georgians 77 10 10 Nasidze,2004(*7)
Kurd 17 29 12 Spencer Wells,2001(*5)
Nenets 54 4 11 Spencer Wells,2001(*5)
Syrian 20 15.0 10.0 (*1)
Turkmen 37 36 9 ?
Turkmen 30 37 7 Spencer Wells,2001(*5)
Lezgi(S.Caucasus) 12 17 8 Nasidze,2004(*7)
Svans 25 0 8 Nasidze,2004(*7)
Azerbaijanians 72 11 7 Nasidze,2004(*7)
Armenians 100 19 6 Nasidze,2004(*7)
Armenians 47 36 9 Spencer Wells,2001(*5)
S.Ossetians 17 12 6 Spencer Wells,2001(*5)
Kazaks 54 6 4 Spencer Wells,2001(*5)
Chechenians 19 0 5 Nasidze,2004(*7)
Kallar Darvidian 84 0 4 Spencer Wells,2001(*5)
Mongolian 24 0 4 Spencer Wells,2001(*5)
Ossetians (Ardon) 28 0 4 Nasidze,2004(*7)
Kazbegi 25 8 4 Nasidze,2004(*7)
India Darvidian (Tribal) 180 - 2.78 (*8)
Kabardinians 59 2 2 Nasidze,2004(*7)
Lezgi(Dagestan) 25 4 0 Nasidze,2004(*7)
Oseetians (Digora) 31 0 0 Nasidze,2004(*7)
Rutulians 24 0 0 Nasidze,2004(*7)
Darginians 26 4 0 Nasidze,2004(*7)
Ingushians 22 0 0 Nasidze,2004(*7)
Cambodia 6 0 0 (*8)?
China 127 0 0 (*8)
Japan 23 0 0 (*8)
Siberia 18 0 0 (*8)?
Publications:
- (*5) http://www.pnas.org/cgi/reprint/98/18/10244.pdf[14]
- (*6) http://www.journals.uchicago.edu/AJHG/journal/issues/v71n3/023927/023927.web.pdf[15]
- (*7) http://www.eva.mpg.de/genetics/pdf/Caucasus_big_paper.pdf[16]
- (*8) http://www.journals.uchicago.edu/AJHG/journal/issues/v78n2/42812/42812.html table 5, 6 & 7[17]
- (*12) http://evolutsioon.ut.ee/publications/Kivisild2003b.pdf Fig3 more detailed data for regions, but no caste[18]
[edit] See also
[edit] References
- Luigi Luca Cavalli-Sforza (1994). The History and Geography of Human Genes. Princeton University Press. ISBN 0-691-08750-4
- Semino et al (2000), The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans, Science, Vol 290
- Wells et al (2001), The Eurasian Heartland: A continental perspective on Y-chromosome diversity, PNAS, Vol 98
- Saha Anjana, Sharma Swarkar, Bhat Audesh,Pandit Awadesh, Bamezai Ramesh (2005). Genetic affinity among five different population groups in India reflecting a Y-chromosome gene flow. J Hum Genet;50:49–51 PMID 15611834
- Sanghamitra Sengupta 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, American Journal of Human Genetics, 78:202-221
- ^ 2001 R. Spencer Wells &all "The Eurasian Heartland: A continental perspective on Y-chromosome diversity" : PNAS 2001;98;10244-10249 doi:10.1073/pnas.171305098 http://www.pnas.org/cgi/reprint/98/18/10244.pdf
- ^ 2002 Tatiana Zerjal,(of Oxford) "A Genetic Landscape Reshaped by Recent Events: Y-Chromosomal Insights into Central Asia" ; Am. J. Hum. Genet. 71:466–482, 2002 * 6 http://www.journals.uchicago.edu/AJHG/journal/issues/v71n3/023927/023927.web.pdf
- ^ Semino et al. The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective, Science, 290, 1155-1159, 2000
- ^ The Eurasian Heartland: A continental perspective on Y-chromosome diversity - R. Spencer Wells at all [1]
- ^ http://www.nature.com/ejhg/journal/v10/n9/full/5200834a.html
- ^ A Y Chromosome Census of the British Isles - Cristian Capelliet al [2]
- ^ [3]
- ^ The Eurasian Heartland: A continental perspective on Y-chromosome diversity - R. Spencer Wells at all [4]
- ^ National Academy of Sciences - The Eurasian Heartland: A continental perspective on Y-chromosome diversity [5]
- ^ Barrier analysis (Alexander Varzari, 5.2.4) show a clear gene barrier along the Vistula: "This finding suggests that across the history the geographic boundary, dividing Southeast Europe from Eastern Europe was more transparent for the reciprocal flows than the boundary between Eastern and Western Europe."
- ^ correlated with the "secondary Urheimat" or early Centum dialects; Mallory says (1987, p257): "Perhaps our only recourse is to return to our strict definition of the Proto-Indo-European homeland as where the Indo-European languages were spoken in the period 4500-2500 BC."
- ^ European R1a1 measurements(referred to as M17 or Eu19) in Science vol 290, 10 November 2000 [6] read 6.2% to Germans (a 4X drop to Czechs and Slovakians reading 26,7%) and 3.7% to Dutch
- ^ table 5 Am. J. Hum. Genet., 78:202-221, 2006 0002-9297/2006/7802-0004$15.00
- ^ 2001 R. Spencer Wells &all "The Eurasian Heartland: A continental perspective on Y-chromosome diversity" : PNAS 2001;98;10244-10249 doi:10.1073/pnas.171305098 http://www.pnas.org/cgi/reprint/98/18/10244.pdf
- ^ 2002 Tatiana Zerjal,(of Oxford) "A Genetic Landscape Reshaped by Recent Events: Y-Chromosomal Insights into Central Asia" ; Am. J. Hum. Genet. 71:466–482, 2002 * 6 http://www.journals.uchicago.edu/AJHG/journal/issues/v71n3/023927/023927.web.pdf
- ^ 2004 I. Nasidze & all "Mitochondrial DNA and Y-Chromosome Variation in the Caucasus" doi: 10.1046/j.1529-8817.2004.00092.x
- ^ 2006 Sanghamitra Sengupta &all "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., 78:202-221, 2006; 0002-9297/2006/7802-0004
- ^ 2003 T. Kivisild "The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations" Am. J. Hum. Genet. 72:313–332, 2003
