Haplogroup R1a1 (Y-DNA)

R1a1 is a specific sequence of nucleotides in the male Y chromosome and a Y-chromosome haplogroup identified with the genetic marker M17, and is associated with the spread of the Indo-European languages. R1a1 originated as a single mutation of one male, the R1a1 originator considered to be the ancestor of all individuals carrying R1a1, and descends of Haplogroup R1, which is consistent with a European origin.

R1a1 is present at high frequency (40 per cent plus) from the Czech Republic across to the Altai Mountains in Siberia and south throughout Central Asia. Absolute dating methods suggest that this marker is 10–15,000 years old, and the microsatellite diversity is greatest in southern Russia and Ukraine, suggesting that it arose there. Investigations suggest the gene expanded from the Dniepr-Don Valley, between 13 000 and 7600 years ago, and was linked to the reindeer hunters of the Ahrensburg culture that started from the Dniepr valley in Ukraine and reached Scandinavia 12 000 years ago. Ornella Semino et al. (see ) propose a postglacial spread of the R1a1 gene from the Ukrainian LGM refuge, subsequently magnified by the expansion of the Kurgan culture into Europe and eastward. R1a1 is most prevalent in Poland, Russia, Ukraine, Hungary and is also observed in Pakistan, India and central Asia. Wells suggests the origin, distribution and age of R1a1 points to an ancient migration, possibly corresponding to the spread by the Kurgan people in their expansion across the Eurasian steppe around 3000 BC.

Marijana Perii &all in 2005 hypothesize that: "At this level of resolution, it is not clear what temporal and effective population size differences contributed to this deep Paleolithic signal as high R1a variance in SEE might be explained by either ancient demography or more recent bottlenecks and founder effects in different Slavic tribes. 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."

Origins
The first carriers of the R1a1 haplotype are believed to have been peoples living about 15,000 years ago 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 — including the enigmatic Nordwestblock — shows that this correlation with PIE cannot be extended to the "kurganized" western Corded ware and subsequent Beaker culture. This corresponds to the now widely accepted view that kurganisation never occurred

Highest haplotype incidence suggests that haplogroup R1a1 originated among the ancestors of the Balto-Slavic speakers of Eastern and Central Europe.

Distribution Overview
In Europe, the highest frequencies are found in Central and Eastern Europe. Today it is found at its highest levels in Tajiks (64%), Kyrgyz (63%), Poland and Hungary (56%–60%), Ukraine (44-54% depending of the source), and Russia, where one out of two men has this haplogroup. In Hungary contradicting frequencies are reported 60% or 20%. Relatively high frequencies are also found among the ethnic Sorbs (63%) in Eastern Germany and in Scandinavia (the largest being 23% in Iceland). High haplotype diversity was detected in northern Poland where for 508 males Pawlowski et al found 328 different and 264 unique haplotypes, he wrote "Model for a Polish population haplotype …is almost 15 times more frequent in our population than in a cumulative European one" (for better picture compare this diversity to this map of R1a1 frequency) or more accurate map C on this map.

Even in South Eastern Europe (not a major concentration of R1a1) microsatellite networks of major Y chromosomal lineages show high diveristy of R1a1 graph C. The variance cluster in South Eastern Europe (SEE) is located in the Republic of Macedonia.

In Asia, high R1a1 frequencies are detected in populations of Ishkashimi (68%), Tajiks (64%), and Kyrgyz (63%). "The exceptionally high frequencies of this marker in the Kyrgyz, TajikyKhojant, and Ishkashim populations are likely to be due to drift, as these populations are less diverse, and are characterized by relatively small numbers of individuals living in isolated mountain valleys". If the size of a population decreases, for example, in a particular fraternal family all male members will have 100% of R1a1 or 0% of this marker.

The gene has proven to be a diagnostic Indo-Iranian marker and is believed to have been inherited from 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, 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. Iran appears to have had little genetic influence from the R1a1-carrying Indo-Iranians, attributed to language replacement through the "elite-dominance" model.

Europe
R1a1 is spread across the whole of Europe, with the highest concentrations found in Poland. 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.

"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).

Studies of India scholars 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. (table 5), R1* is virtually absent in Southeast and East Asia.

Relationship to other haplogroups
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).

Frequency distribution
R1a frequency is expressed as percentage of population samples.

Europe
N  *R1     R1a1    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 Croatian                                34     15e 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 Norwegian                   83          26.5   13 Bosnians                                25     15e Icelander                  181   41.4   23.8   14 Norwegian                   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 Herzegovinian                          15     15e 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 Albanian                                10     15e Saami                       24    8.3    8.3    1 UK Isle of Man              62   15      8     11 Greek                                    8     15e UK Orkney                  121   23      7     11     ?? 7% <> 23% *5 UK                         309          ~7     13     see references Georgian                    63 ` 14.3    7.9    1 Turks                                    7     15e 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 Italians                                 3     15e British                 ~1000          ~4     11 Irish                      222   81.5    0.5   14 Calabrian                   37   32.4      0    1 Sardinian                   77   22.1           1 British                    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/
 * 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?)
 * 15e http://mbe.oxfordjournals.org/cgi/content/full/22/10/1964#FIG5


 * {| class="wikitable" style="text-align:center; font-size: 90%"

!                  ||     N   || *R1   ||  R1a1  ||  source ! Sorbs ! rowspan=2 | Hungarian ! Poles ! Ukrainian ! Belarusian ! Russian ! Belarusian ! Belarusian ! Ukrainian ! Ukrainians, Rashkovo ! Russian, North ! Latvian ! Udmurt ! Pomor ! Macedonian ! Moldavians, Karahasan ! Lithuanian ! Croatian ! UK Orkney ! Gagauzes, Etulia ! Czech + Slovakian ! Norwegian ! Icelander ! Norwegian ! Moldavians, Sofia ! Romanians ! Hungarian ! Orcandin ! Swedish (Northern) ! Swedish ! Danish ! Mari ! German ! German ! Greek ! Albanian ! Saami ! UK Isle of Man ! UK Orkney ! UK                     ! Georgian ! Turkish ! UK Shetland ! UK Chippenham ! UK Cornwall ! Dutch ! German ! Italian central/north ! Brithish ! Irish ! Calabrian ! Sardinian ! Brithish ! Poles ! Germans ! Dniester-Carpathian ! Gagauzes, Kongaz empty or - = no data in sample. ?         = datasets differences, [?-x]:= ^x=# source
 * 112 ||   -   || 63.39 ||  Behar et al (2003)
 * 45 || 13.3  || 60.0   || Semino et al (2000)
 * 113 ||   || 20.4   || Pericic et al (2005)
 * 113 ||   || 20.4   || Pericic et al (2005)
 * 55 || 16.4  || 56.4 ||  Semino et al (2000), Pericic et al (2005)
 * 50 ||  2.0  || 54.0   || Semino et al (2000), Pericic et al (2005)
 * 306 ||       || 50.98  || Behar et al (2003)     ?- Pericic et al (2005)
 * 122 ||  7.0  || 47.0   || Pericic et al (2005)
 * - ||       || 46     || 4
 * 41 || 10.0  || 39.0   || Pericic et al (2005)
 * - ||       || 44     || 3     ?
 * 53 ||       || 41.5   ||10     ?
 * 49 ||    0  || 43     || 5
 * 34 || 15.0  || 41.0   || Pericic et al (2005)
 * 43 || 11.6  || 37.2   || Semino et al (2000)
 * 28 ||    0  || 36     || 5
 * 20 || 10.0  || 35.0   || Semino et al (2000)
 * 72 ||       || 34.7   ||10
 * 38 ||   6   || 34     || Pericic et al (2005)
 * 58 || 10.3  || 29.3   || Semino et al (2000)
 * 26 ||   65  || 27     || 5
 * 41 ||       || 26.8   ||10
 * 45 || 35.6  || 26.7   || Semino et al (2000) ,14
 * 83 ||       || 26.5   ||13
 * 181 || 41.4  || 23.8   || Pericic et al (2005)
 * 87 ||       || 21.69  || Behar et al (2003)
 * 54 ||       || 20.4   ||10
 * 54 ||       || 20.4   ||10 (Buhusi, Piatra-Neamt)
 * 45 || 13.3  || 20.4   || Pericic et al (2005)
 * 71 || 66.0  || 19.7   || Pericic et al (2005)
 * 48 || 23.0  || 19.0   || Pericic et al (2005)
 * 110 || 20.0  || 17.3   || Pericic et al (2005)
 * 12 || 41.7  || 16.7   || Pericic et al (2005)
 * 46 ||    0  || 13.0   || Semino et al (2000)
 * 88 ||       || 12.50  || Behar et al (2003)
 * 48 || 47.9  || 8.1    || Pericic et al (2005)
 * 76 || 27.6  || 11.8   || Semino et al (2000)
 * 51 || 17.6  ||  9.8   || Semino et al (2000)
 * 24 ||  8.3  ||  8.3   || Semino et al (2000)
 * 62 || 15    ||  8     ||Capelli et al  (2003)
 * 121 || 23    ||  7     ||Capelli et al  (2003)     ?? 7% <> 23% *5
 * 309 ||       || ~7     || 13     see references
 * 63 || 14.3  ||  7.9   ||  Semino et al (2000)
 * 30 || 6.6   || 6.6    ||1
 * 63 || 17    ||  6     ||Capelli et al  (2003)
 * 51 || 16    ||  6     ||Capelli et al  (2003)
 * 52 || 25    ||  6     ||Capelli et al  (2003)
 * 27 || 70.4  ||  3.7   || Semino et al (2000)
 * 16 || 50.0  ||  6.2   || Semino et al (2000)
 * 50 || 62.0  ||  4.0   || Semino et al (2000)
 * ~1000 ||       || ~4     ||Capelli et al  (2003)
 * 222 || 81.5  ||  0.5   || Pericic et al (2005)
 * 37 || 32.4  ||    0   || Semino et al (2000)
 * 77 || 22.1  ||        || Semino et al (2000)
 * 25 ||   72  ||    0   || 5
 * 913 ||       ||        || 9
 * 1215 ||       ||        || 9
 * - ||       || 50.06  ||10
 * 48 ||       || 12.5   ||10
 * }


 * 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(%)   Sr. Published Ishkashimi                  25      4     68        5 Spencer Wells,2001 Tajiks                      -             64        6 Tajiks/Khojant              22            64        5 Spencer Wells,2001 Tajiks/Dushanbe             16            19        5 Spencer Wells,2001 Tajiks/Samarkand            40            25        5 Spencer Wells,2001 Kyrgyz                      52      2     63        5 Spencer Wells,2001 Tashkent IE                 69      7     47        ? India Upper Caste           86      -     45.35     8 Sourasthran                 46      0     39        5 Spencer Wells,2001 Abkhazians                  12      8     33        7 Nasidze,2004 Chenchus (India-Darv.)       -      -     26       12 Kazan Tatar                 38      3     24        5 Spencer Wells,2001 Saami                       23      9     22        5 Spencer Wells,2001 Iran (Tehran)               24      4      4        5 Spencer Wells,2001 Iran (Tehran)               80      8     20        7 Nasidze,2004 Iran (Isfahan)              50      0     18        7 Nasidze,2004 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        5 Spencer Wells,2001(*5) Abazinians                  14      0     14        7 Nasidze,2004(*7) Turks                       39     31     13        7 Nasidze,2004(*7) Georgians                   77     10     10        7 Nasidze,2004(*7) Kurd                        17     29     12        5 Spencer Wells,2001(*5) Nenets                      54      4     11        5 Spencer Wells,2001(*5) Syrian                      20     15     10        1 Lebanese                    31      6.4    9.7      1 Turkmen                     37     36      9          ? Turkmen                     30     37      7        5 Spencer Wells,2001(*5) Lezgi(S.Caucasus)           12     17      8        7 Nasidze,2004(*7) Svans                       25      0      8        7 Nasidze,2004(*7) Azerbaijanians              72     11      7        7 Nasidze,2004(*7) Armenians                  100     19      6        7 Nasidze,2004(*7) Armenians                   47     36      9        5 Spencer Wells,2001(*5) S.Ossetians                 17     12      6        5 Spencer Wells,2001(*5) Kazaks                      54      6      4        5 Spencer Wells,2001(*5) Chechenians                 19      0      5        7 Nasidze,2004(*7) Kallar Darvidian            84      0      4        5 Spencer Wells,2001(*5) Mongolian                   24      0      4        5 Spencer Wells,2001(*5) Ossetians (Ardon)           28      0      4        7 Nasidze,2004(*7) Kazbegi                     25      8      4        7 Nasidze,2004(*7) India Darvidian (Tribal)   180      -      2.78     8 Kabardinians                59      2      2        7 Nasidze,2004(*7) Lezgi(Dagestan)             25      4      0        7 Nasidze,2004(*7) Oseetians (Digora)          31      0      0        7 Nasidze,2004(*7) Rutulians                   24      0      0        7 Nasidze,2004(*7) Darginians                  26      4      0        7 Nasidze,2004(*7) Ingushians                  22      0      0        7 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
 * (*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) T. Kivisild & all, http://evolutsioon.ut.ee/publications/Kivisild2003b.pdf Fig3 more detailed data for regions, but no caste

popular culture
Bryan Sykes in his book Blood of the Isles gives (from his fantasy) 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.