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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. In Europe, the highest frequencies are found in Central and Eastern Europe. Today it is found with its highest levels in Hungary (60%, 20%), Poland (56%), Ukraine (54% 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, and it is believed to have been spread across Europe by the Indo-Europeans or perhaps later migrations of Vikings, which accounts for the existence of it in, among other places, the British Isles. Lower frequencies of R1a1 are found among populations of West Asia.

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 rode root.

Origins

The first carriers of the R1a1 haplotype are believed to be have been peoples living about 10,000 years ago around Ukrainian LGM refuge area who after become nomadic proliferated on Eurasian steppes. Current theories point to them being speakers of the Proto-Indo-European language in the Kurgan scenario. Highest haplotype diversity suggests that haplogroup R1a1-M17 originated among the ancestors of the people presently inhabiting Eastern and Central Europe.

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 a 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 Ukrainian refuge area

"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.

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.

The 'Indian origin conception' has one disqualifying and clear problem. No detectable*8 R1 (m173) marker in big 700 sample population. The R1a1 was created when mutation occurred in men carrying R1 gene.

More specifically in table 5 from paper *8(see below) by Sanghamitra Sengupta are given results for tested samples: India n = 728, Pakistan n = 176, East Asia n = 175. R1 as R1*-M173 occurs in 0 - India, 1 (0.57%) - Pakistan and 0 - East Asia. It mean in all 728 men from India tested for genetic markers not even single one man has R1*-M173 in India.

According to Sengupta et al., R1* is virtually absent in South and East Asia.

Relationship to other haplogroups

v t e Phylogenetic tree of human Y-chromosome DNA haplogroups
This article needs to be updated. Please help update this article to reflect recent events or newly available information. (February 2021)
"Y-chromosomal Adam" A00 A0-T  A0 A1  A1a A1b A1b1 BT B CT DE CF D E C F F1  F-Y27277   F3  GHIJK G HIJK IJK H IJ K I   J     LT        K2  I1   I2  J1   J2  L     T  K2e K2d K2c K2b   K2a K2b1    P  K-M2313  S   M     P1   NO1 P1c P1b P1a N O R Q
Y-DNA by population Y-DNA haplogroups of historic people Footnotes 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. S2CID 23291764. International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.) Haplogroup A0-T is also known as A-L1085 (and previously as A0'1'2'3'4). Haplogroup A1 is also known as A1'2'3'4. F-Y27277, sometimes known as F2'4, is both the parent clade of F2 and F4 and a child of F-M89. Haplogroup LT (L298/P326) is also known as Haplogroup K1. Between 2002 and 2008, Haplogroup T-M184 was known as "Haplogroup K2". That name has since been re-assigned to K-M526, the sibling of Haplogroup LT. Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS. Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure. Haplogroup P (P295) is also klnown as K2b2. K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.; YFull YTree v5.08, 2017, "K-M2335", and; PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017) Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.) Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)

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 R1b (M343)
  • Haplogroup R2 (M124)

It is related to Haplogroup R1b (M343), which is dominant in Western Europe, and more distantly related to Haplogroup R2 (M124).

Y dna frequency

Y DNA frequency is expressed as percentage (%) of population samples. Number of samples when the gene was found / number of total samples * 100. Each sample is equal to randomly chosen man. (However almost all the R1 in these tables is R1b not R1*)

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=# 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?)

Asia

                            n      R1     R1a1
Ishkashimi                   25      4     68       5
Tajiks                       -             64       6   
Kyrgyz                       52      2     63       5,6(n-)
Tashkent IE                  69      7     47       5
India Upper Caste            86      -     45.35    8
Sourasthran                  46      0     39       5
Abkhazians                   12      8     33       7
Kazan Tatar                  38      3     24       5
Saami                        23      9     22       5
Iran (Tehran)                80      8     20       7
Iran (Isfahan)               50      0     18       7
Pakistan  ??                 85      1.10  16.47    8    ?
Pakistan                    175      0.57  24.43    8    ?
Pakistan suoth               91      0     31.87    8    ?
India                       728      0     15.8     8    ?
India                       325      0.3   27      12    ? (yes only 0.3% R*, 1/325)
Tuvian                       42      2     14       5
Abazinians                   14      0     14       7
Turks                        39     31     13       7
Georgians                    77     10     10       7
Kurd                         17     29     12       5
Nenets                       54      4     11       5
Syrian                       20   15.0   10.0       1
Armenian                     47     36      9       5
Turkmen                      37     36      9       5
Lezgi(S.Caucasus)            12     17      8       7
Svans                        25      0      8       7
Azerbaijanians               72     11      7       7
Armenians                   100     19      6       7
S.Ossetians                  17     12      6       7
Kazaks                        -             3       6
Chechenians                  19      0      5       7
Kallar Darvidian             84      0      4       5
Mongolian                    24      0      4       5
Ossetians (Ardon)            28      0      4       7
Kazbeg                       25      8      4       7
India Darvidian (Tribal)    180      -      2.78    8
Kabardinians                 59      2      2       7
Lezgi(Dagestan)              25      4      0       7
Oseetians (Digora)           31      0      0       7
Rutulians                    24      0      0       7
Darginians                   26      4      0       7
Ingushians                   22      0      0       7
Cambodia                      6      0      0       8    ?
China                       127      0      0       8    
Japan                        23      0      0       8
Siberia                      18      0      0       8    ?

• 5 http://www.pnas.org/cgi/reprint/98/18/10244.pdf
• 6 http://www.journals.uchicago.edu/AJHG/journal/issues/v71n3/023927/023927.web.pdf
• 7 http://www.eva.mpg.de/genetics/pdf/Caucasus_big_paper.pdf
• 8 http://www.journals.uchicago.edu/AJHG/journal/issues/v78n2/42812/42812.html table 5, 6 & 7
• 12 http://evolutsioon.ut.ee/publications/Kivisild2003b.pdf Fig3 more detailed data for regions, but no caste

trivia

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.

See also

• Human Y-chromosome DNA haplogroups
• Genetics and Archaeogenetics of South Asia

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

1. Semino et al. The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective, Science, 290, 1155-1159, 2000
2. Am. J. Hum. Genet., 78:202-221, 2006 0002-9297/2006/7802-0004$15.00
3. table 5 Am. J. Hum. Genet., 78:202-221, 2006 0002-9297/2006/7802-0004$15.00
4. R. Spencer Wells &al 2001 "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
5. Tatiana Zerjal,(of Oxford)2002 "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

External links

• Map of R1a
• Spread of R1a1, from the Genographic Project, National Geographic
• Danish Demes Regional DNA Project: Y-DNA Haplogroup R1a

• Human Y-DNA haplogroups