Haplogroup R1a (Y-DNA)

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map showing the diversion of R1a1 and R1b.

R1a (Y-DNA) is a specific sequence of nucleotides in the male Y chromosome and a Y-chromosome haplogroup identified with the genetic marker M17. R1a originated as a single mutation of one male, the R1a originator considered to be the ancestor of all individuals carrying R1a, and descends of Haplogroup R1.

R1a 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. The first carriers of the R1a haplotype are believed to have been peoples living about 15,000 years ago<ref name="Wells2001" /> confined by an area within the Ukrainian LGM refuge. The gene spread by a nomadic lifestyle and proliferated on Eurasian steppes.

1 Subclades
2 Origins
3 Distribution Overview
4 Frequency distribution
- 4.1 Europe
- 4.2 Asia
5 Popular culture
6 Relationship to other haplogroups
7 See also
8 References
9 External links

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Subclades

R1a (SRY1532)
- R1a1 (M17, M198)
  - R1a1a (M56)
  - R1a1b (M157)
  - R1a1c (M64.2, M87, M204)
  - R1a1*
- R1a*

There is some suggestion that R1a and R1a1 split within Southern and Western Asia.Template:Fact

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Origins

Image:Europe20000ya.png

European LGM refuges, 20 kya.

Several possibilities for the spread of R1a and R1a1 exist, which include the colonization of Europe following the end of the last ice-age, Chalcolithic movements of Kurgan people associated with the domestication of the horse and/or recent Slavic migrations from the 5th century AD.

Absolute dating methods suggest that this marker is 10–15,000 years old, and the microsatellite diversity is greatest in Central Asia, 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.<ref name = "Passarino2002"/> On the other hand Dupuy and his colleagues proposed Ahrensburg culture to have brought Haplogroup Hg P*(xR1a) or R1b (Y-DNA) to the population and stressed genetic similarity with Germany.<ref>Dupuy, B. et al. 2006. Geographical heterogeneity of Y-chromosomal lineages in Norway. Forensic Science International. 164: 10-19. [1]</ref> Ornella Semino et al. (see [2]) 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.<ref>Template:Citation.</ref>

In the Kurgan scenario speakers of the Proto-Indo-European language spread the gene further to Asia and Eastern Europe. The low occurrence of R1a1 in Western European Indo-European speaking populations, most notably the region west of the Vistula<ref>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."</ref> — including the enigmatic Nordwestblock — shows that this correlation with PIE cannot be extended to the "kurganized" western Corded ware and subsequent Beaker culture.<ref>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."</ref><ref>European R1a1 measurements (referred to as M17 or Eu19) in Semino et al 2000 read 6.2% to Germans (a 4X drop to Czechs and Slovakians reading 26,7%) and 3.7% to Dutch</ref> This corresponds to the now widely accepted view that kurganisation never occurred.<ref>The Concise Oxford Dictionary of Archaeology. Copyright © 2002, 2003 by Oxford University Press[3]</ref>

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

Marijana Perii et. al. hypothesized in 2005 that: Template:Quote

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Distribution Overview

Image:Y-Haplogroup R1 distribution.png

Distribution of R1a (purple) and R1b (red), after McDonald (2005). See also this map for distribution in Europe.

In Europe, the highest frequencies are found in Central and Eastern Europe. To the East this gene found its way as far as Eastern Siberia, with considerable concentrations in Kamchatka and Chukotka, and it can't be ruled out the gene even entered into the Americas by this route.<ref>The Dual Origin and Siberian Affinities of Native American - Jeffrey T. Lell et al [4]</ref> Today it is found at its highest levels in Tajiks (Eastern Persians) (64%), Kyrgyz (63%), Poland and Hungary (56%–60%), Ukraine (44-54%<ref name="Semino2000">Template:Cite journal</ref>, depending on 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<ref name = "Passarino2002">Template:Cite journal</ref> (the largest being 23% in Iceland). In eastern Iran and northern India the frequencies are 35% [5]. The modern population of Ukraine has the highest level of diversity of the gene making it the likeliest location of its origin.<ref name = "Passarino2002">Template:Cite journal</ref> High haplotype diversity was detected in northern Poland where for 508 males Pawlowski et al<ref name="Pawlowski2002">Template:Cite journal (in Polish; English abstract)</ref> 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<ref name = "Perii">High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations; Marijana Perii & ally.</ref>.

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)<ref name = "Perii" /><ref name = "MBE">MBE Advance Access originally published online on June 8, 2005 Molecular Biology and Evolution 2005 22(10):1964–75; doi:10.1093/molbev/msi185.</ref>. The variance cluster in South Eastern Europe (SEE) is located in the Republic of Macedonia.

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Europe

R1a1 carrying Vikings,<ref name = "Passarino2002">Template:Cite journal</ref> settled in the British Isles, which accounts for the existence of it there.<ref name="Capelli2003">Template:Cite journal</ref><ref name="Garvey_R1a1">Template:Cite web</ref> 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<ref name = "Pericic2005">Template:Cite journal Haplogroup frequency data in table 1</ref>: Template:Quote 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.

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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),<ref name="Bamshad2001">Template:Cite journal</ref> in line with earlier suggestions (Cavalli-Sforza 1994).<ref>Template:Cite book</ref> 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).<ref name ="Wells2001" /> The northern migration theory is also supported by the dating of the haplogroup (Wells et al 2003).

However, 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)<ref name = "Saha2005">Template:Cite journal</ref> 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)<ref name="Sengupta2006">Template:Cite journal</ref> 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 pattern of clustering does not support the model that the primary source of the R1a1-M17 chromosomes in India was Central Asia or the Indus Valley via Indo-European speakers.<ref>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 - Sanghamitra Sengupta et al [6] 2005, by The American Society of Human Genetics</ref>

According to Sengupta et al. (table 5),<ref name="Sengupta2006" /> R1* is virtually absent in Southeast and East Asia.

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Iran and Central Asia

In Asia, high R1a1 frequencies are detected in populations of Ishkashimi (68%), which is the highest frequency detected anywhere, Tajiks (Eastern Persians) (64%), and Kyrgyz (63%).<ref name ="Wells2001">Template:Cite journal</ref><ref name="Zerjal2002">Template:Cite journal</ref> "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<ref name="Wells2001" /> 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 involved in horseriding and chariots.<ref name=blenchspriggsIII181>Parpola in Template:Harvcoltxt. "The history of the Indo-European words for 'horse' shows that the Proto-Indo-European speakers had long lived in an area where the horse was native and/or domesticated Template:Harvcol</ref> Lower frequencies of R1a1 are found among populations of West Asia. Eastern Iran shows relatively high frequencies, up to 35%, similar to Northern India [7], making it higher than South and West Europe and Scandinavia, while Western Iran (excluding major cities like Tehran and Isfahan) populated by non Persian ethnic groups, appears to have had little genetic influence from the R1a1-carrying Indo-Iranians, about 10%, attributed to language replacement through the "elite-dominance" model.

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Frequency distribution

R1a frequency is expressed as percentage of population samples.

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Europe

	N	*R1	R1a1	source
Sorbs	112	-	63.39	Behar et al (2003)<ref name=Behar2003>Template:Cite journal </ref>
Hungarian	45	13.3	60.0	Semino et al (2000)<ref name="Semino2000" />
Hungarian	113		20.4	Pericic et al (2005)<ref name="Pericic2005" />
Poles	55	16.4	56.4	Semino et al (2000),<ref name="Semino2000" /> Pericic et al (2005)<ref name="Pericic2005" />
Ukrainian	50	2.0	54.0	Semino et al (2000),<ref name="Semino2000" /> Pericic et al (2005)<ref name="Pericic2005" />
Belarusian	306		50.98	Behar et al (2003)<ref name=Behar2003 /> ?- Pericic et al (2005)<ref name="Pericic2005" />
Russian	122	7.0	47.0	Pericic et al (2005)<ref name="Pericic2005" />
Belarusian	-		46	4
Belarusian	41	10.0	39.0	Pericic et al (2005)<ref name="Pericic2005" />
Ukrainian	-		44	3 ?
Ukrainians, Rashkovo	53		41.5	10 ?
Russian, North	49	0	43	5
Latvian	34	15.0	41.0	Pericic et al (2005)<ref name="Pericic2005" />
Udmurt	43	11.6	37.2	Semino et al (2000)<ref name="Semino2000" />
Pomor	28	0	36	5
Macedonian	20	10.0	35.0	Semino et al (2000)<ref name="Semino2000" />
Moldavians, Karahasan	72		34.7	10
Lithuanian	38	6	34	Pericic et al (2005)<ref name="Pericic2005" />
Croatian	58	10.3	29.3	Semino et al (2000)<ref name="Semino2000" />
UK Orkney	26	65	27	5
Gagauzes, Etulia	41		26.8	10
Czech + Slovakian	45	35.6	26.7	Semino et al (2000)<ref name="Semino2000" /> ,14
Norwegian	83		26.5	13
Icelander	181	41.4	23.8	Pericic et al (2005)<ref name="Pericic2005" />
Norwegian	87		21.69	Behar et al (2003)<ref name=Behar2003 />
Moldavians, Sofia	54		20.4	10
Romanians	54		20.4	10 (Buhusi, Piatra-Neamt)
Orcandin	71	66.0	19.7	Pericic et al (2005)<ref name="Pericic2005" />
Swedish (Northern)	48	23.0	19.0	Pericic et al (2005)<ref name="Pericic2005" />
Swedish	110	20.0	17.3	Pericic et al (2005)<ref name="Pericic2005" />
Danish	12	41.7	16.7	Pericic et al (2005)<ref name="Pericic2005" />
Mari	46	0	13.0	Semino et al (2000)<ref name="Semino2000" />
German	88		12.50	Behar et al (2003)<ref name=Behar2003 />
German	48	47.9	8.1	Pericic et al (2005)<ref name="Pericic2005" />
Greek	76	27.6	11.8	Semino et al (2000)<ref name="Semino2000" />
Albanian	51	17.6	9.8	Semino et al (2000)<ref name="Semino2000" />
Saami	24	8.3	8.3	Semino et al (2000)<ref name="Semino2000" />
UK Isle of Man	62	15	8	Capelli et al (2003)<ref name="Capelli2003" />
UK Orkney	121	23	7	Capelli et al (2003)<ref name="Capelli2003" /> ?? 7% <> 23% *5
UK	309		~7	13 see references
Georgian	63	14.3	7.9	Semino et al (2000)<ref name="Semino2000" />
Turkish	30	6.6	6.6	1
UK Shetland	63	17	6	Capelli et al (2003)<ref name="Capelli2003" />
UK Chippenham	51	16	6	Capelli et al (2003)<ref name="Capelli2003" />
UK Cornwall	52	25	6	Capelli et al (2003)<ref name="Capelli2003" />
Dutch	27	70.4	3.7	Semino et al (2000)<ref name="Semino2000" />
German	16	50.0	6.2	Semino et al (2000)<ref name="Semino2000" />
Italian central/north	50	62.0	4.0	Semino et al (2000)<ref name="Semino2000" />
Brithish	~1000		~4	Capelli et al (2003)<ref name="Capelli2003" />
Irish	222	81.5	0.5	Pericic et al (2005)<ref name="Pericic2005" />
Calabrian	37	32.4	0	Semino et al (2000)<ref name="Semino2000" />
Sardinian	77	22.1		Semino et al (2000)<ref name="Semino2000" />
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

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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-Drav.)        -      -     26       12  
Kazan Tatar                  38      3     24        5 Spencer Wells,2001
Saami                        23      9     22        5 Spencer Wells,2001
Dongxiang                    49     <10    28          Wei Wang et al.,2003
Bonan                        47      0     26          Wei Wang et al.,2003
Salar                        52     <10    17          Wei Wang et al.,2003
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 Dravidian             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 Dravidian (Tribal)    180      -      2.78     8 
Kabardinians                 59      2      2        7 Nasidze,2004(*7)
Lezgi(Dagestan)              25      4      0        7 Nasidze,2004(*7)
Ossetians (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<ref name = "Wells2001" />
(*6) http://www.journals.uchicago.edu/AJHG/journal/issues/v71n3/023927/023927.web.pdf<ref name = "Zerjal2002" />
(*7) http://www.eva.mpg.de/genetics/pdf/Caucasus_big_paper.pdf<ref>2004 I. Nasidze & all "Mitochondrial DNA and Y-Chromosome Variation in the Caucasus" doi: 10.1046/j.1529-8817.2004.00092.x </ref>
(*8) http://www.journals.uchicago.edu/AJHG/journal/issues/v78n2/42812/42812.html table 5, 6 & 7<ref name="Sengupta2006" />
(*12) T. Kivisild & all , http://evolutsioon.ut.ee/publications/Kivisild2003b.pdf Fig3 more detailed data for regions, but no caste<ref> 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 </ref>

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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.

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