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Haplogroup R1a (Y-DNA)
Encyclopedia
Haplogroup
R1a is the phylogenetic name of a major clade
of Human Y-chromosome DNA haplogroups
. In other words, it is a way of grouping a significant part of all modern men according to a shared male-line ancestor. It is common in many parts of Eurasia
and is frequently discussed in human population genetics
and genetic genealogy
. One sub-clade (branch) of R1a, currently designated R1a1a, is much more common than the others in all major geographical regions. R1a1a, defined by the SNP mutation
M17, is particularly common in a large region extending from South Asia
and Southern Siberia
to Central Europe
and Scandinavia
.
Currently, the R1a family is defined most broadly by the SNP mutation
M420. The recent discovery of M420 resulted in a reorganization of the known family tree of R1a, in particular establishing a new paragroup (designated R1a*) for the relatively rare lineages which are not in the R1a1 branch leading to R1a1a.
R1a and R1a1a are believed to have originated somewhere within Eurasia
, most likely in the area from Eastern Europe to South Asia. Several recent studies have proposed that South Asia is the most likely region of origin. But on the other hand, as will be discussed below, some researchers continue to treat modern Indian R1a as being largely due to immigration from the Central Eurasian steppes.
In 2002, the Y chromosome consortium
(YCC) proposed a new naming system for haplogroups, which has now become standard. In this system, names with the format "R1" and "R1a" are "phylogenetic" names, aimed at marking positions in a family tree. Names of SNP mutations can also be used to name clades or haplogroups. For example, as M173 is currently the defining mutation
of R1, R1 is also R-M173, a "mutational" clade name. When a new branching in a tree is discovered, some phylogenetic names will change, but by definition all mutational names will remain the same.
The widely occurring haplogroup defined by mutation M17 was known by various names, such as "Eu19", in the older naming systems. The 2002 YCC proposal assigned the name R1a to the haplogroup defined by mutation SRY1532.2. This included Eu19 (i.e. R-M17) as a subclade, so Eu19 was named R1a1. The discovery of M420 in 2009 has caused a reassignment of these phylogenetic names. R1a is now defined by the M420 mutation: in this updated tree, the subclade defined by SRY1532.2 has moved from R1a to R1a1, and Eu19 (R-M17) from R1a1 to R1a1a.
{style="border:1px solid darkgray;" align=center
style="text-align:Center;"| Contrasting family trees for R1a
2002 Scheme proposed in
2009 Scheme as per
{cladogram| title=After 2009, a new layer was inserted covering all old R1a, plus its closest known relatives
|clades=
}}
R1a, distinguished by several unique markers including the M420 mutation, is a subclade of Haplogroup R1
, which is defined by SNP mutation M173. Besides R1a, R1 also has the subclades R1b
, defined by the M343 mutation, and the paragroup R1*. There is no simple consensus concerning the places in Eurasia
where R1, R1a or R1b evolved.
Only isolated samples of the new paragroup R1a* have been found by Underhill et al., mostly in the Middle East
and Caucasus
: 1/121 Omanis, 2/150 Iran
ians, 1/164 in the United Arab Emirates
, and 3/612 in Turkey
. Testing of 7224 more males in 73 other Eurasian populations showed no sign of this category.
The R1a1* paragroup is apparently less rare than R1* but still relatively unusual, though it has been tested in more than one survey. Underhill et al. for example report 1/51 in Norway
, 3/305 in Sweden
, 1/57 Greek Macedonians, 1/150 Iranians, 2/734 Ethnic Armenians
, and 1/141 Kabardians. While Sahoo et al. reported R1a*(new R1a1*) for 1/15 Himachal Pradesh Rajput samples.
Currently, R1a1a has eight subclades of its own defined by mutations, but the vast majority of the incidence has not yet been categorized and is therefore in the paragroup R1a1a*.
, particularly near the river valleys flowing northwards to the Baltic sea
.
R1a1a7 has its own SNP-defined R1a1a7a subclade, defined by the M334 marker. However this mutation was found only in one Estonian man and may define a very recently founded and small clade.
R1a1a3, defined by the M64.2, M87, and M204 SNP mutations, is apparently rare: it was found in 1 of 117 males typed in southern Iran.
(microsatellite
) haplotype
s (as used in genealogy
) have also identified clusters of similar within R1a1a. Such clusters equate to groups with probable common ancestry, but with no known SNP defining them yet.
has identified two clusters within R1a1a7 ("P" and "N"). Cluster P was originally identified by Pawlowski (2002) and apparently accounts for about 8% of Polish men, making it the most common clearly identifiable haplotype cluster in Poland. Outside of Poland it is less common. Cluster N is not concentrated in Poland, but is apparently common in many Slavic areas. Gwozdz also identified at least one large cluster of R1a1a* (not having M458), referred to as cluster K. This cluster is common in Poland but not only there.
notes a potential clade identified by a mutation on the relatively stable STR marker DYS388 (to an unusual repeat value of 10, instead of the more common 12), noting that this "is observed in northern and western Europe, mainly in England, Ireland, Norway, and to a much lesser degree in Sweden, Denmark, Netherlands and Germany. In areas further east and south that mutation is practically absent".
Both Gwozdz and Klyosov also note frequent close STR matching between part of the Indian R1a1a population, and part of the Russian and Slavic R1a1a population, indicating apparent links between these populations in a time-frame more recent than the age of R1a1a overall.
and Tajikistan
on the one hand, and Poland
on the other. Throughout all of these regions, R1a is dominated by the R1a1a (R-M17 or R-M198) sub-clade.
In India
, high percentage of this haplogroup is observed in West Bengal Brahmins
(72%) to the east, Konkanastha Brahmins (48%) to the west, Khatri
s (67%) in north and Iyenger Brahmins (31%) of south. It has also been found in several South Indian Dravidian
-speaking Adivasi
s including the Chenchu
(26%) and the Valmikis of Andhra Pradesh
and the Kallar of Tamil Nadu
suggesting that M17 is widespread in Tribal Southern Indians.
Besides these, studies show high percentages in regionally diverse groups such as Manipuris (50%) to the extreme North East and in Punjab (47%) to the extreme North West.
In Pakistan
it is found at 71% among the Mohanna of Sindh Province to the south and 46% among the Baltis
of Gilgit-Baltistan to the north. While 13% of Sinhalese
of Sri Lanka
were found to be R1a1a (R-M17) positive.
Hindus of Terai region
of Nepal
show it at 69%.
, Poles, Russians and Ukrainians; 50 to 65%). In the Baltic countries R1a frequencies decrease from Lithuania (45%) to Estonia (around 30%). Levels in Hungarians have been noted between 20 and 60% .
There is a significant presence in peoples of Scandinavia
n descent, with highest levels in Norway
and Iceland
, where between 20 and 30% of men are in R1a1a. Viking
s and Normans
may have also carried the R1a1a lineage westward; accounting for at least part of the small presence in the British Isles
. In East Germany where Haplogroup R1a reaches a peak frequency in Rostock
at a percentage of 31.3% of German
males, it averages between 20%-30%.
Haplogroup R1a1a was found at elevated levels amongst a sample of the Israeli population who self-designated themselves as Ashkenazi Jews, possibly reflecting gene flow into Ashkenazi populations from surrounding Eastern European populations, over a course of centuries. This haplogroup finding was apparently consistent with the latest SNP
microarray
analysis which argued that up to 55 percent of the modern Ashkenazi genome is specifically traceable to Europe. Ashkenazim were found to have a significantly higher frequency of the R-M17 haplogroup Behar reported R-M17 to be the dominant haplogroup in Ashkenazi Levites (52%), although rare in Ashkenazi Cohanim (1.3%) and Israelites (4%).
In Southern Europe R1a1a is not common amongst the general population, but it is widespread in certain areas. Significant levels have been found in pockets, such as in the Pas Valley in Northern Spain
, areas of Venice
, and Calabria
in Italy
. The Balkans
shows lower frequencies, and significant variation between areas, for example >30% in Slovenia
, Croatia
and Greek Macedonia, but <10% in Albania
, Kosovo
and parts of Greece
.
The remains of a father and his two sons, from an archaeological site discovered in 2005 near Eulau (in Saxony-Anhalt
, Germany
) and dated to about 2600 BCE, tested positive for the Y-SNP marker SRY10831.2. The R1a1 clade was thus present in Europe at least 4600 years ago, in association with one site of the widespread Corded Ware culture
.
and Eastern Siberia
. This variation is possibly a consequence of population bottleneck
s in isolated areas and the movements of Scythians in ancient times and later the Turco-Mongol
s. High frequencies of R1a1a (R-M17 or R-M198; 50 to 70%) are found among the Ishkashimis, Khojant
Tajiks, Kyrgyzs, and in several peoples of Russia's Altai Republic
. Although levels are comparatively low amongst some Turkic
-speaking groups (e.g. Turks
, Azeris, Kazakhs
, Yakuts
), levels are very high in certain Turkic or Mongolic
-speaking groups of Northwestern China
, such as the Bonan
, Dongxiang
, Salar, and Uyghur
s. R1a1a is also found among certain indigenous Eastern Siberia
ns, including:Kamchatkans and Chukotkans
, and peaking in Itel'man at 22%.
, to much higher levels in parts of Kuwait
, Turkey
and Iran
.
The Shimar (Shammar
) Bedouin tribe in Kuwait
show the highest frequency in the Middle East at 43%.
, noted that in the western part of the country, Iranians show low R1a1a levels, while males of eastern parts of Iran carried up to 35% R1a. found R1a in approximately 20% of Iranian males from the cities of Tehran
and Isfahan. , in a study of Iran
, noted much higher frequencies in the south than the north.
Turkey also shows high but unevenly distributed R1a levels amongst some sub-populations. For example found relatively high levels amongst two Kurdish groups of Turkey, the Kurmanji
(13%) and Zazaki
(26%).
Further to the north of these Middle Eastern regions on the other hand, R1a levels start to increase in the Caucasus
, once again in an uneven way. Several populations studied have shown no sign of R1a, while highest levels so far discovered in the region appears to belong to speakers of the Karachay-Balkar language
amongst whom about one quarter of men tested so far are in haplogroup R1a1a.
, around Indo-Gangetic Plain
, and the other in Eastern Europe
, around Poland
and Ukraine
. The historical and prehistoric possible reasons for this are the subject of on-going discussion and attention amongst population geneticists and genetic genealogists, and are considered to be of potential interest to linguists and archaeologists also.
haplotype variation within R1a1a. On this basis, while several studies have concluded that the data is consistent with South Asia as the likely original point of dispersal (for example, , and ) a few have actively argued for this scenario (for example , , , and . A survey study as of December 2009, including a collation of retested Y-DNA from previous studies, concluded that a South Asian R1a1a origin was the most likely proposal amongst the various uncertain possibilities.
On the other hand, other recent studies such as continue to treat R1a in modern India as being at least partly due to immigration from the northwest associated with Indoeuropean languages and culture. One argument for this, as stated for example by , is that this is implied by the uneven distribution pattern of R1a between caste
s and regions. Higher castes and more northerly Indian populations are considered to be more directly descended from the populations who brought Indoeuropean languages to India, and they tend to have higher levels of R1a than lower castes, and more southerly populations, while tribal castes and non Indoeuropean speaking groups tend to have the lowest frequencies of R1a. In order to explain exceptions to this pattern, these authors propose that R1a in India is also partly due to earlier movements of people from central Asia.
than they are in either South Asia or Eastern Europe or much of Central Asia. It has nevertheless been mentioned in speculation about the origins of the clade. This is both because there are above-described pockets of high frequency and diversity, for example in some parts of Iran and amongst some Kurdish populations. A Middle Eastern origin for R1a has long been considered a possibility, and is still considered to be consistent with known data.
Concerning R1a having a possible origin in the regions of central Asia or eastern Europe, there are two very different timeframes proposed by different researchers using different methods.
A widely cited theory proposed in 2000 that there may have been two expansions: first, R1a1a originally spreading from a Ukrainian refugium during the Late Glacial Maximum; and then, the spread being magnified by the expansion of males from the Kurgan culture. A recent survey argues that R1a1a could be old enough for this scenario, but find it more likely that it was initially in Asia even if it was in parts of Europe by approximately 11,000 years ago.
Most age estimates for R1a1a having such an early presence in Europe come from papers using the "evolutionarily effective" methodology described by , the latest such example being and . Researchers using this dating method therefore conclude that any Neolithic or more recent dispersals of R1a1a do not represent the initial spread of the whole clade, and might be more visible in the distribution of a subclade or subclades. remark on the "geographic concordance of the R1a1a7-M458 distribution with the Chalcolithic and Early Bronze Age Corded Ware (CW) cultures of Europe". However they also note evidence contrary to a connection: Corded Ware period human remains at Eulau from which Y-DNA was extracted of R1a haplogroup appear to be R1a1a*(xM458) (which they found most similar to the modern German R1a1a* haplotype.)
In papers where the Zhivitovsky method is not the only method used, Europe's R1a1a diversity is generally understood to have been shaped more significantly by more recent events, including not only the Bronze Age, but also the spread of Slavic languages. speculated that "R1a [in Norway] might represent the spread of the Corded Ware and Battle-Axe cultures from central and east Europe." , looking at data from the Czech Republic suggested there was evidence for a rapid demographic expansion approximately 1500 years ago. also detected Y-STR evidence of a recent Slavic expansion from the area of modern Ukraine. saw evidence for a "rapid population expansion somewhat less than 1,500 years ago in the area that is now Poland".
recognize a complex of inter-related and relatively mobile culture
s living on the Eurasian steppe
, part of which protrudes into Europe as far west as Ukraine
. These cultures from the late Neolithic
and into the Iron Age
, with specific traits such as Kurgan
burials and horse domestication, have been associated with the dispersal of Indo-European languages
across Eurasia. Nearly all samples from Bronze and Iron Age graves in the Krasnoyarsk
area in south Siberia belonged to R1a1-M17 and appeared to represent an eastward migration from Europe.
Geneticists believing that they see evidence of R1a1a gene-flow from the Eurasian Steppe to India have frequently proposed the involvement of these Steppe cultures in the process. Such a Steppe origin for all or part R1a1a continues to be argued on the basis of DNA results from ancient remains from several South Siberian late Kurgan sites, including some from the Andronovo culture
. However, in recent discussions of this theory it is considered only to apply to a part of R1a1a, making this theory no longer incompatible with other origins theories for R1a more broadly defined.
in his book Blood of the Isles gives imaginative names to the founders or "clan patriarchs" of major British Y haplogroups, much as he did for mitochondrial haplogroups in his work The Seven Daughters of Eve
. He named R1a1a in Europe the "clan" of a "patriarch" Sigurd, reflecting the theory that R1a1a in the British Isles has Norse
origins. It should be noted that this does not mean that there ever was any clan or other large grouping of people, which was dominated by R1a1a or any other major haplogroup. Real clans and ethnic groups are made up of men in many Y Haplogroups.
Haplogroup
In the study of molecular evolution, a haplogroup is a group of similar haplotypes that share a common ancestor having the same single nucleotide polymorphism mutation in both haplotypes. Because a haplogroup consists of similar haplotypes, this is what makes it possible to predict a haplogroup...
R1a is the phylogenetic name of a major clade
Clade
A clade is a group consisting of a species and all its descendants. In the terms of biological systematics, a clade is a single "branch" on the "tree of life". The idea that such a "natural group" of organisms should be grouped together and given a taxonomic name is central to biological...
of Human Y-chromosome DNA haplogroups
Human Y-chromosome DNA haplogroups
In human genetics, a Human Y-chromosome DNA haplogroup is a haplogroup defined by differences in the non-recombining portions of DNA from the Y chromosome ....
. In other words, it is a way of grouping a significant part of all modern men according to a shared male-line ancestor. It is common in many parts of Eurasia
Eurasia
Eurasia is a continent or supercontinent comprising the traditional continents of Europe and Asia ; covering about 52,990,000 km2 or about 10.6% of the Earth's surface located primarily in the eastern and northern hemispheres...
and is frequently discussed in human population genetics
Population genetics
Population genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes into account the factors of recombination, population subdivision and population...
and genetic genealogy
Genetic genealogy
Genetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals.-History:...
. One sub-clade (branch) of R1a, currently designated R1a1a, is much more common than the others in all major geographical regions. R1a1a, defined by the SNP mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
M17, is particularly common in a large region extending from South Asia
South Asia
South Asia, also known as Southern Asia, is the southern region of the Asian continent, which comprises the sub-Himalayan countries and, for some authorities , also includes the adjoining countries to the west and the east...
and Southern Siberia
Siberia
Siberia is an extensive region constituting almost all of Northern Asia. Comprising the central and eastern portion of the Russian Federation, it was part of the Soviet Union from its beginning, as its predecessor states, the Tsardom of Russia and the Russian Empire, conquered it during the 16th...
to Central Europe
Central Europe
Central Europe or alternatively Middle Europe is a region of the European continent lying between the variously defined areas of Eastern and Western Europe...
and Scandinavia
Scandinavia
Scandinavia is a cultural, historical and ethno-linguistic region in northern Europe that includes the three kingdoms of Denmark, Norway and Sweden, characterized by their common ethno-cultural heritage and language. Modern Norway and Sweden proper are situated on the Scandinavian Peninsula,...
.
Currently, the R1a family is defined most broadly by the SNP mutation
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
M420. The recent discovery of M420 resulted in a reorganization of the known family tree of R1a, in particular establishing a new paragroup (designated R1a*) for the relatively rare lineages which are not in the R1a1 branch leading to R1a1a.
R1a and R1a1a are believed to have originated somewhere within Eurasia
Eurasia
Eurasia is a continent or supercontinent comprising the traditional continents of Europe and Asia ; covering about 52,990,000 km2 or about 10.6% of the Earth's surface located primarily in the eastern and northern hemispheres...
, most likely in the area from Eastern Europe to South Asia. Several recent studies have proposed that South Asia is the most likely region of origin. But on the other hand, as will be discussed below, some researchers continue to treat modern Indian R1a as being largely due to immigration from the Central Eurasian steppes.
Different meanings of "R1a"
The naming system commonly used for R1a remains inconsistent in different published sources, and requires some explanation.In 2002, the Y chromosome consortium
Y chromosome consortium
The Y Chromosome Consortium is a collection of scientists who work toward the understanding of human Y chromosomal phylogenetics and evolution. The consortium has the following objectives: web resources that communicate information relating to the non-recombinant region of the Y-chromosome...
(YCC) proposed a new naming system for haplogroups, which has now become standard. In this system, names with the format "R1" and "R1a" are "phylogenetic" names, aimed at marking positions in a family tree. Names of SNP mutations can also be used to name clades or haplogroups. For example, as M173 is currently the defining mutation
UEP
UEP may refer to:* Unique-event polymorphism, a class of genetic markers used to define haplogroups* United Egg Producers, an agricultural cooperative in the Midwestern United States which represents the interests of regional egg producers...
of R1, R1 is also R-M173, a "mutational" clade name. When a new branching in a tree is discovered, some phylogenetic names will change, but by definition all mutational names will remain the same.
The widely occurring haplogroup defined by mutation M17 was known by various names, such as "Eu19", in the older naming systems. The 2002 YCC proposal assigned the name R1a to the haplogroup defined by mutation SRY1532.2. This included Eu19 (i.e. R-M17) as a subclade, so Eu19 was named R1a1. The discovery of M420 in 2009 has caused a reassignment of these phylogenetic names. R1a is now defined by the M420 mutation: in this updated tree, the subclade defined by SRY1532.2 has moved from R1a to R1a1, and Eu19 (R-M17) from R1a1 to R1a1a.
{
|clades=
}}
Phylogeny
The R1a family tree now has three major levels of branching, with the largest number of defined subclades within the dominant and best known branch, R1a1a (which, as has been noted, will be found with various names; in particular, as "R1a1" in relatively recent but not the latest literature.)Roots of R1a
R1a, distinguished by several unique markers including the M420 mutation, is a subclade of Haplogroup R1
Haplogroup R1 (Y-DNA)
In human genetics, Haplogroup R1 is a Y-chromosome DNA haplogroup, a subgroup of haplogroup R, associated with the M173 mutation. It is dominated in practice by two very common Eurasian clades, R1a and R1b, which together are found all over Eurasia except in Southeast Asia and East Asia...
, which is defined by SNP mutation M173. Besides R1a, R1 also has the subclades R1b
Haplogroup R1b (Y-DNA)
The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia. T. Karafet et al. estimated the age of R1, the parent of R1b, as 18,500 years before present....
, defined by the M343 mutation, and the paragroup R1*. There is no simple consensus concerning the places in Eurasia
Eurasia
Eurasia is a continent or supercontinent comprising the traditional continents of Europe and Asia ; covering about 52,990,000 km2 or about 10.6% of the Earth's surface located primarily in the eastern and northern hemispheres...
where R1, R1a or R1b evolved.
R1a (R-M420)
R1a, defined by the mutation M420, has two branches: R1a1, defined by the mutation SRY1532.2, which makes up the vast majority; and R1a*, the paragroup, defined as M420 positive but SRY1532.2 negative. (In the 2002 scheme, this SRY1532.2 negative minority was one part of the relatively rare group classified as the paragroup R1*.) Mutations understood to be equivalent to M420 include M449, M511, M513, L62, and L63.Only isolated samples of the new paragroup R1a* have been found by Underhill et al., mostly in the Middle East
Middle East
The Middle East is a region that encompasses Western Asia and Northern Africa. It is often used as a synonym for Near East, in opposition to Far East...
and Caucasus
Caucasus
The Caucasus, also Caucas or Caucasia , is a geopolitical region at the border of Europe and Asia, and situated between the Black and the Caspian sea...
: 1/121 Omanis, 2/150 Iran
Iran
Iran , officially the Islamic Republic of Iran , is a country in Southern and Western Asia. The name "Iran" has been in use natively since the Sassanian era and came into use internationally in 1935, before which the country was known to the Western world as Persia...
ians, 1/164 in the United Arab Emirates
United Arab Emirates
The United Arab Emirates, abbreviated as the UAE, or shortened to "the Emirates", is a state situated in the southeast of the Arabian Peninsula in Western Asia on the Persian Gulf, bordering Oman, and Saudi Arabia, and sharing sea borders with Iraq, Kuwait, Bahrain, Qatar, and Iran.The UAE is a...
, and 3/612 in Turkey
Turkey
Turkey , known officially as the Republic of Turkey , is a Eurasian country located in Western Asia and in East Thrace in Southeastern Europe...
. Testing of 7224 more males in 73 other Eurasian populations showed no sign of this category.
R1a1 (R-SRY1532.2)
R1a1 is currently defined by SRY1532.2, also referred to as SRY10831.2. SNP mutations understood to be always occurring with SRY1532.2 include M448, M459, and M516. This family of lineages is dominated by the very large and well-defined R1a1a branch, which is positive for M17 and M198. The paragroup R1a1* (old R1a*) is positive for the SRY1532.2 marker but lacks either the M17 or M198 markers.The R1a1* paragroup is apparently less rare than R1* but still relatively unusual, though it has been tested in more than one survey. Underhill et al. for example report 1/51 in Norway
Norway
Norway , officially the Kingdom of Norway, is a Nordic unitary constitutional monarchy whose territory comprises the western portion of the Scandinavian Peninsula, Jan Mayen, and the Arctic archipelago of Svalbard and Bouvet Island. Norway has a total area of and a population of about 4.9 million...
, 3/305 in Sweden
Sweden
Sweden , officially the Kingdom of Sweden , is a Nordic country on the Scandinavian Peninsula in Northern Europe. Sweden borders with Norway and Finland and is connected to Denmark by a bridge-tunnel across the Öresund....
, 1/57 Greek Macedonians, 1/150 Iranians, 2/734 Ethnic Armenians
Armenians
Armenian people or Armenians are a nation and ethnic group native to the Armenian Highland.The largest concentration is in Armenia having a nearly-homogeneous population with 97.9% or 3,145,354 being ethnic Armenian....
, and 1/141 Kabardians. While Sahoo et al. reported R1a*(new R1a1*) for 1/15 Himachal Pradesh Rajput samples.
R1a1a (R-M17 or R-M198)
R1a1a (old R1a1) makes up the vast majority of all R1a over its entire geographic range. It is defined by SNP mutations M17 or M198, which have always appeared together in the same men so far. SNP mutations understood to be always occurring with M17 and M198 include M417, M512, M514, M515.Currently, R1a1a has eight subclades of its own defined by mutations, but the vast majority of the incidence has not yet been categorized and is therefore in the paragroup R1a1a*.
R1a1a subclades
Currently, of the eight SNP-defined subclades of R1a1a only R1a1a7 has significant frequencies. R1a1a7 is defined by M458 and was found almost entirely in Europe, and with low frequency in Turkey and parts of the Caucasus. Its highest frequencies were found in Central and Southern PolandPoland
Poland , officially the Republic of Poland , is a country in Central Europe bordered by Germany to the west; the Czech Republic and Slovakia to the south; Ukraine, Belarus and Lithuania to the east; and the Baltic Sea and Kaliningrad Oblast, a Russian exclave, to the north...
, particularly near the river valleys flowing northwards to the Baltic sea
Baltic Sea
The Baltic Sea is a brackish mediterranean sea located in Northern Europe, from 53°N to 66°N latitude and from 20°E to 26°E longitude. It is bounded by the Scandinavian Peninsula, the mainland of Europe, and the Danish islands. It drains into the Kattegat by way of the Øresund, the Great Belt and...
.
R1a1a7 has its own SNP-defined R1a1a7a subclade, defined by the M334 marker. However this mutation was found only in one Estonian man and may define a very recently founded and small clade.
| Region | People | N | R1a1a-M17 | R1a1a6-M434 | ||
| Number | Freq. (%) | Number | Freq. (%) | |||
| Pakistan | Baloch Baloch people The Baloch or Baluch are an ethnic group that belong to the larger Iranian peoples. Baluch people mainly inhabit the Balochistan region and Sistan and Baluchestan Province in the southeast corner of the Iranian plateau in Western Asia.... |
60 | 9 | 15% | 5 | 8% |
| Pakistan | Makrani Makrani Makrani are the inhabitants of Makran coast of Balochistan in Iran and Pakistan.-Sheedi:Black Africans were enslaved and brought to Balochistan in medieval times. The descendants are called Makrani or Sheedi. The Sheedis are a Negroid people in Pakistan... |
60 | 15 | 25% | 4 | 7% |
| Middle East | Oman Oman Oman , officially called the Sultanate of Oman , is an Arab state in southwest Asia on the southeast coast of the Arabian Peninsula. It is bordered by the United Arab Emirates to the northwest, Saudi Arabia to the west, and Yemen to the southwest. The coast is formed by the Arabian Sea on the... |
121 | 11 | 9% | 3 | 2.5% |
| Pakistan | Sindhi Sindhi people Sindhis are a Sindhi speaking socio-ethnic group of people originating from Sindh, a province Formerly of British India, now in Pakistan. Today Sindhis that live in Pakistan belong to various religious denominations including Islam, Zoroastrianism, Hinduism, Sikhism and Christianity... |
134 | 65 | 49% | 2 | 1% |
| Table only shows positive sets from N = 3667 derived from 60 Eurasian populations sample, | ||||||
R1a1a3, defined by the M64.2, M87, and M204 SNP mutations, is apparently rare: it was found in 1 of 117 males typed in southern Iran.
R1a1a6, defined by M434, was detected in 14 people (out of 3667 people tested) all in a restricted geographical range from PakistanPakistanPakistan , officially the Islamic Republic of Pakistan is a sovereign state in South Asia. It has a coastline along the Arabian Sea and the Gulf of Oman in the south and is bordered by Afghanistan and Iran in the west, India in the east and China in the far northeast. In the north, Tajikistan...
to OmanOmanOman , officially called the Sultanate of Oman , is an Arab state in southwest Asia on the southeast coast of the Arabian Peninsula. It is bordered by the United Arab Emirates to the northwest, Saudi Arabia to the west, and Yemen to the southwest. The coast is formed by the Arabian Sea on the...
. This likely reflects a recent mutation event in Pakistan.
R1a1a STR clusters
Genetic genealogists looking at high accuracy STRShort tandem repeat
A short tandem repeat in DNA occurs when a pattern of two or more nucleotides are repeated and the repeated sequences are directly adjacent to each other. The pattern can range in length from 2 to 5 base pairs and is typically in the non-coding intron region...
(microsatellite
Microsatellite
Microsatellites, also known as Simple Sequence Repeats or short tandem repeats , are repeating sequences of 2-6 base pairs of DNA....
) haplotype
Haplotype
A haplotype in genetics is a combination of alleles at adjacent locations on the chromosome that are transmitted together...
s (as used in genealogy
Genealogy
Genealogy is the study of families and the tracing of their lineages and history. Genealogists use oral traditions, historical records, genetic analysis, and other records to obtain information about a family and to demonstrate kinship and pedigrees of its members...
) have also identified clusters of similar within R1a1a. Such clusters equate to groups with probable common ancestry, but with no known SNP defining them yet.
has identified two clusters within R1a1a7 ("P" and "N"). Cluster P was originally identified by Pawlowski (2002) and apparently accounts for about 8% of Polish men, making it the most common clearly identifiable haplotype cluster in Poland. Outside of Poland it is less common. Cluster N is not concentrated in Poland, but is apparently common in many Slavic areas. Gwozdz also identified at least one large cluster of R1a1a* (not having M458), referred to as cluster K. This cluster is common in Poland but not only there.
notes a potential clade identified by a mutation on the relatively stable STR marker DYS388 (to an unusual repeat value of 10, instead of the more common 12), noting that this "is observed in northern and western Europe, mainly in England, Ireland, Norway, and to a much lesser degree in Sweden, Denmark, Netherlands and Germany. In areas further east and south that mutation is practically absent".
Both Gwozdz and Klyosov also note frequent close STR matching between part of the Indian R1a1a population, and part of the Russian and Slavic R1a1a population, indicating apparent links between these populations in a time-frame more recent than the age of R1a1a overall.
Distribution of R1a1a (R-M17 or R-M198)
R1a has been found in high frequency at both the eastern and western ends of its core range, for example in IndiaIndia
India , officially the Republic of India , is a country in South Asia. It is the seventh-largest country by geographical area, the second-most populous country with over 1.2 billion people, and the most populous democracy in the world...
and Tajikistan
Tajikistan
Tajikistan , officially the Republic of Tajikistan , is a mountainous landlocked country in Central Asia. Afghanistan borders it to the south, Uzbekistan to the west, Kyrgyzstan to the north, and China to the east....
on the one hand, and Poland
Poland
Poland , officially the Republic of Poland , is a country in Central Europe bordered by Germany to the west; the Czech Republic and Slovakia to the south; Ukraine, Belarus and Lithuania to the east; and the Baltic Sea and Kaliningrad Oblast, a Russian exclave, to the north...
on the other. Throughout all of these regions, R1a is dominated by the R1a1a (R-M17 or R-M198) sub-clade.
South Asia
In South Asia R1a1a has often been observed with high frequency in a number of demographic groups. The main two subclades of R1a1a are R1a1a* and R1a1a7. R1a1a7 is positive for M458 an SNP that separate it from the rest of R1a1a. It is significant because M458 is a European marker and the epicenter is Poland. R1a1a influence into India was not from Europe since the M458 marker is rare in India.In India
India
India , officially the Republic of India , is a country in South Asia. It is the seventh-largest country by geographical area, the second-most populous country with over 1.2 billion people, and the most populous democracy in the world...
, high percentage of this haplogroup is observed in West Bengal Brahmins
Bengali Brahmins
The Bengali Brahmins are those Hindu Brahmins who traditionally reside in the Bengal region of the Indian subcontinent, currently comprising the Indian state of West Bengal, Tripura, Assam and Bangladesh...
(72%) to the east, Konkanastha Brahmins (48%) to the west, Khatri
Khatri
Khatri is a caste from the northern Indian subcontinent. Khatris in India are mostly from Punjab, region but later they migrated to regions like Rajasthan, Uttar Pradesh, Delhi, Jammu, Uttarkhand, Himachal Pradesh, Gujarat, Madhya Pradesh, Haryana, Balochistan, Sindh and Khyber...
s (67%) in north and Iyenger Brahmins (31%) of south. It has also been found in several South Indian Dravidian
Dravidian languages
The Dravidian language family includes approximately 85 genetically related languages, spoken by about 217 million people. They are mainly spoken in southern India and parts of eastern and central India as well as in northeastern Sri Lanka, Pakistan, Nepal, Bangladesh, Afghanistan, Iran, and...
-speaking Adivasi
Adivasi
Adivasi is an umbrella term for a heterogeneous set of ethnic and tribal groups claimed to be the aboriginal population of India. They comprise a substantial indigenous minority of the population of India...
s including the Chenchu
Chenchu
The Chenchus are an aboriginal tribe of the central hill regions of Andhra Pradesh, India. Their traditional way of life has been based on hunting and gathering. The Chenchus speak the Chenchu language, a member of the Telegu branch of the Dravidian language family. In general, the Chenchu...
(26%) and the Valmikis of Andhra Pradesh
Andhra Pradesh
Andhra Pradesh , is one of the 28 states of India, situated on the southeastern coast of India. It is India's fourth largest state by area and fifth largest by population. Its capital and largest city by population is Hyderabad.The total GDP of Andhra Pradesh is $100 billion and is ranked third...
and the Kallar of Tamil Nadu
Tamil Nadu
Tamil Nadu is one of the 28 states of India. Its capital and largest city is Chennai. Tamil Nadu lies in the southernmost part of the Indian Peninsula and is bordered by the union territory of Pondicherry, and the states of Kerala, Karnataka, and Andhra Pradesh...
suggesting that M17 is widespread in Tribal Southern Indians.
Besides these, studies show high percentages in regionally diverse groups such as Manipuris (50%) to the extreme North East and in Punjab (47%) to the extreme North West.
In Pakistan
Pakistan
Pakistan , officially the Islamic Republic of Pakistan is a sovereign state in South Asia. It has a coastline along the Arabian Sea and the Gulf of Oman in the south and is bordered by Afghanistan and Iran in the west, India in the east and China in the far northeast. In the north, Tajikistan...
it is found at 71% among the Mohanna of Sindh Province to the south and 46% among the Baltis
Balti people
The Balti are an ethnic group of Tibetan descent with some Dardic admixture located in Gilgit-Baltistan, Pakistan and Ladakh, a region in Jammu & Kashmir, India; as well as scattered in Pakistan's major urban centres of Lahore, Karachi and Islamabad/Rawalpindi. The Balti language belongs to the...
of Gilgit-Baltistan to the north. While 13% of Sinhalese
Sinhalese people
The Sinhalese are an Indo-Aryan ethnic group,forming the majority of Sri Lanka,constituting 74% of the Sri Lankan population.They number approximately 15 million worldwide.The Sinhalese identity is based on language, heritage and religion. The Sinhalese speak Sinhala, an Indo-Aryan language and the...
of Sri Lanka
Sri Lanka
Sri Lanka, officially the Democratic Socialist Republic of Sri Lanka is a country off the southern coast of the Indian subcontinent. Known until 1972 as Ceylon , Sri Lanka is an island surrounded by the Indian Ocean, the Gulf of Mannar and the Palk Strait, and lies in the vicinity of India and the...
were found to be R1a1a (R-M17) positive.
Hindus of Terai region
Chitwan District
Chitwan District and one sub-Metropolitan city - Bharatpur and a municipality Ratnanagar each of which has more than nine wards or urban areas....
of Nepal
Nepal
Nepal , officially the Federal Democratic Republic of Nepal, is a landlocked sovereign state located in South Asia. It is located in the Himalayas and bordered to the north by the People's Republic of China, and to the south, east, and west by the Republic of India...
show it at 69%.
Europe
In Europe, R1a, again almost entirely in the R1a1a sub-clade, is found at highest levels among peoples of Eastern European descent (SorbsSorbs
Sorbs are a Western Slavic people of Central Europe living predominantly in Lusatia, a region on the territory of Germany and Poland. In Germany they live in the states of Brandenburg and Saxony. They speak the Sorbian languages - closely related to Polish and Czech - officially recognized and...
, Poles, Russians and Ukrainians; 50 to 65%). In the Baltic countries R1a frequencies decrease from Lithuania (45%) to Estonia (around 30%). Levels in Hungarians have been noted between 20 and 60% .
There is a significant presence in peoples of Scandinavia
Scandinavia
Scandinavia is a cultural, historical and ethno-linguistic region in northern Europe that includes the three kingdoms of Denmark, Norway and Sweden, characterized by their common ethno-cultural heritage and language. Modern Norway and Sweden proper are situated on the Scandinavian Peninsula,...
n descent, with highest levels in Norway
Norway
Norway , officially the Kingdom of Norway, is a Nordic unitary constitutional monarchy whose territory comprises the western portion of the Scandinavian Peninsula, Jan Mayen, and the Arctic archipelago of Svalbard and Bouvet Island. Norway has a total area of and a population of about 4.9 million...
and Iceland
Iceland
Iceland , described as the Republic of Iceland, is a Nordic and European island country in the North Atlantic Ocean, on the Mid-Atlantic Ridge. Iceland also refers to the main island of the country, which contains almost all the population and almost all the land area. The country has a population...
, where between 20 and 30% of men are in R1a1a. Viking
Viking
The term Viking is customarily used to refer to the Norse explorers, warriors, merchants, and pirates who raided, traded, explored and settled in wide areas of Europe, Asia and the North Atlantic islands from the late 8th to the mid-11th century.These Norsemen used their famed longships to...
s and Normans
Normans
The Normans were the people who gave their name to Normandy, a region in northern France. They were descended from Norse Viking conquerors of the territory and the native population of Frankish and Gallo-Roman stock...
may have also carried the R1a1a lineage westward; accounting for at least part of the small presence in the British Isles
British Isles
The British Isles are a group of islands off the northwest coast of continental Europe that include the islands of Great Britain and Ireland and over six thousand smaller isles. There are two sovereign states located on the islands: the United Kingdom of Great Britain and Northern Ireland and...
. In East Germany where Haplogroup R1a reaches a peak frequency in Rostock
Rostock
Rostock -Early history:In the 11th century Polabian Slavs founded a settlement at the Warnow river called Roztoc ; the name Rostock is derived from that designation. The Danish king Valdemar I set the town aflame in 1161.Afterwards the place was settled by German traders...
at a percentage of 31.3% of German
Germans
The Germans are a Germanic ethnic group native to Central Europe. The English term Germans has referred to the German-speaking population of the Holy Roman Empire since the Late Middle Ages....
males, it averages between 20%-30%.
Haplogroup R1a1a was found at elevated levels amongst a sample of the Israeli population who self-designated themselves as Ashkenazi Jews, possibly reflecting gene flow into Ashkenazi populations from surrounding Eastern European populations, over a course of centuries. This haplogroup finding was apparently consistent with the latest SNP
SNP array
In molecular biology and bioinformatics, a SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single nucleotide polymorphism , a variation at a single site in DNA, is the most frequent type of variation in the genome. For example, there are around 10...
microarray
DNA microarray
A DNA microarray is a collection of microscopic DNA spots attached to a solid surface. Scientists use DNA microarrays to measure the expression levels of large numbers of genes simultaneously or to genotype multiple regions of a genome...
analysis which argued that up to 55 percent of the modern Ashkenazi genome is specifically traceable to Europe. Ashkenazim were found to have a significantly higher frequency of the R-M17 haplogroup Behar reported R-M17 to be the dominant haplogroup in Ashkenazi Levites (52%), although rare in Ashkenazi Cohanim (1.3%) and Israelites (4%).
In Southern Europe R1a1a is not common amongst the general population, but it is widespread in certain areas. Significant levels have been found in pockets, such as in the Pas Valley in Northern Spain
Spain
Spain , officially the Kingdom of Spain languages]] under the European Charter for Regional or Minority Languages. In each of these, Spain's official name is as follows:;;;;;;), is a country and member state of the European Union located in southwestern Europe on the Iberian Peninsula...
, areas of Venice
Venice
Venice is a city in northern Italy which is renowned for the beauty of its setting, its architecture and its artworks. It is the capital of the Veneto region...
, and Calabria
Calabria
Calabria , in antiquity known as Bruttium, is a region in southern Italy, south of Naples, located at the "toe" of the Italian Peninsula. The capital city of Calabria is Catanzaro....
in Italy
Italy
Italy , officially the Italian Republic languages]] under the European Charter for Regional or Minority Languages. In each of these, Italy's official name is as follows:;;;;;;;;), is a unitary parliamentary republic in South-Central Europe. To the north it borders France, Switzerland, Austria and...
. The Balkans
Balkans
The Balkans is a geopolitical and cultural region of southeastern Europe...
shows lower frequencies, and significant variation between areas, for example >30% in Slovenia
Slovenia
Slovenia , officially the Republic of Slovenia , is a country in Central and Southeastern Europe touching the Alps and bordering the Mediterranean. Slovenia borders Italy to the west, Croatia to the south and east, Hungary to the northeast, and Austria to the north, and also has a small portion of...
, Croatia
Croatia
Croatia , officially the Republic of Croatia , is a unitary democratic parliamentary republic in Europe at the crossroads of the Mitteleuropa, the Balkans, and the Mediterranean. Its capital and largest city is Zagreb. The country is divided into 20 counties and the city of Zagreb. Croatia covers ...
and Greek Macedonia, but <10% in Albania
Albania
Albania , officially known as the Republic of Albania , is a country in Southeastern Europe, in the Balkans region. It is bordered by Montenegro to the northwest, Kosovo to the northeast, the Republic of Macedonia to the east and Greece to the south and southeast. It has a coast on the Adriatic Sea...
, Kosovo
Kosovo
Kosovo is a region in southeastern Europe. Part of the Ottoman Empire for more than five centuries, later the Autonomous Province of Kosovo and Metohija within Serbia...
and parts of Greece
Greece
Greece , officially the Hellenic Republic , and historically Hellas or the Republic of Greece in English, is a country in southeastern Europe....
.
The remains of a father and his two sons, from an archaeological site discovered in 2005 near Eulau (in Saxony-Anhalt
Saxony-Anhalt
Saxony-Anhalt is a landlocked state of Germany. Its capital is Magdeburg and it is surrounded by the German states of Lower Saxony, Brandenburg, Saxony, and Thuringia.Saxony-Anhalt covers an area of...
, Germany
Germany
Germany , officially the Federal Republic of Germany , is a federal parliamentary republic in Europe. The country consists of 16 states while the capital and largest city is Berlin. Germany covers an area of 357,021 km2 and has a largely temperate seasonal climate...
) and dated to about 2600 BCE, tested positive for the Y-SNP marker SRY10831.2. The R1a1 clade was thus present in Europe at least 4600 years ago, in association with one site of the widespread Corded Ware culture
Corded Ware culture
The Corded Ware culture , alternatively characterized as the Battle Axe culture or Single Grave culture, is an enormous European archaeological horizon that begins in the late Neolithic , flourishes through the Copper Age and culminates in the early Bronze Age.Corded Ware culture is associated with...
.
Central and Northern Asia
R1a1a frequencies vary widely between populations within central and northern parts of Eurasia, but it is found in areas including Western ChinaWestern China
Western China , refers to the western part of China. In the definition of the Chinese government, Western China covers six provinces: Gansu, Guizhou, Qinghai, Shaanxi, Sichuan, and Yunnan; one municipality: Chongqing; and three autonomous regions: Ningxia, Tibet, and Xinjiang.-Administrative...
and Eastern Siberia
Siberia
Siberia is an extensive region constituting almost all of Northern Asia. Comprising the central and eastern portion of the Russian Federation, it was part of the Soviet Union from its beginning, as its predecessor states, the Tsardom of Russia and the Russian Empire, conquered it during the 16th...
. This variation is possibly a consequence of population bottleneck
Population bottleneck
A population bottleneck is an evolutionary event in which a significant percentage of a population or species is killed or otherwise prevented from reproducing....
s in isolated areas and the movements of Scythians in ancient times and later the Turco-Mongol
Turco-Mongol
Turko-Mongol is a modern designation for various nomads who were subjects of the Mongol Empire. Being progressively Turkicized in terms of language and identity following the Mongol conquests, they derived their ethnic and cultural origins from steppes of Central Asia...
s. High frequencies of R1a1a (R-M17 or R-M198; 50 to 70%) are found among the Ishkashimis, Khojant
Khujand
Khujand , also transliterated as Khudzhand, , formerly Khodjend or Khodzhent until 1936 and Leninabad until 1991, is the second-largest city of Tajikistan. It is situated on the Syr Darya River at the mouth of the Fergana Valley...
Tajiks, Kyrgyzs, and in several peoples of Russia's Altai Republic
Altai Republic
Altai Republic is a federal subject of Russia . Its capital is the town of Gorno-Altaysk. The area of the republic is . Population: -Geography:...
. Although levels are comparatively low amongst some Turkic
Turkic languages
The Turkic languages constitute a language family of at least thirty five languages, spoken by Turkic peoples across a vast area from Eastern Europe and the Mediterranean to Siberia and Western China, and are considered to be part of the proposed Altaic language family.Turkic languages are spoken...
-speaking groups (e.g. Turks
Turkish people
Turkish people, also known as the "Turks" , are an ethnic group primarily living in Turkey and in the former lands of the Ottoman Empire where Turkish minorities had been established in Bulgaria, Cyprus, Bosnia and Herzegovina, Georgia, Greece, Kosovo, Macedonia, and Romania...
, Azeris, Kazakhs
Kazakhs
The Kazakhs are a Turkic people of the northern parts of Central Asia ....
, Yakuts
Yakuts
Yakuts , are a Turkic people associated with the Sakha Republic.The Yakut or Sakha language belongs to the Northern branch of the Turkic family of languages....
), levels are very high in certain Turkic or Mongolic
Mongolic languages
The Mongolic languages are a group of languages spoken in East-Central Asia, mostly in Mongolia and surrounding areas plus in Kalmykia. The best-known member of this language family, Mongolian, is the primary language of most of the residents of Mongolia and the Mongolian residents of Inner...
-speaking groups of Northwestern China
Northwestern China
Northwestern China includes the autonomous regions of Xinjiang and Ningxia and the provinces of Shaanxi, Gansu, and Qinghai.-Administrative divisions:ProvincesAutonomous Regions-Outer Northwest China:...
, such as the Bonan
Bonan
The Bonan people are an ethnic group living in Gansu and Qinghai provinces in northwestern China...
, Dongxiang
Dongxiang people
The Dongxiang people are one of 56 ethnic groups officially recognized by the People's Republic of China...
, Salar, and Uyghur
Uyghur people
The Uyghur are a Turkic ethnic group living in Eastern and Central Asia. Today, Uyghurs live primarily in the Xinjiang Uyghur Autonomous Region in the People's Republic of China...
s. R1a1a is also found among certain indigenous Eastern Siberia
Siberia
Siberia is an extensive region constituting almost all of Northern Asia. Comprising the central and eastern portion of the Russian Federation, it was part of the Soviet Union from its beginning, as its predecessor states, the Tsardom of Russia and the Russian Empire, conquered it during the 16th...
ns, including:Kamchatkans and Chukotkans
Chukotka Autonomous Okrug
Chukotka Autonomous Okrug , or Chukotka , is a federal subject of Russia located in the Russian Far East.Chukotka has a population of 53,824 according to the 2002 Census, and a surface area of . The principal town and the administrative center is Anadyr...
, and peaking in Itel'man at 22%.
Middle East and Caucasus
R1a1a has been found in various forms, in most parts of Western Asia, in widely varying concentrations, from almost no presence in areas such as JordanJordan
Jordan , officially the Hashemite Kingdom of Jordan , Al-Mamlaka al-Urduniyya al-Hashemiyya) is a kingdom on the East Bank of the River Jordan. The country borders Saudi Arabia to the east and south-east, Iraq to the north-east, Syria to the north and the West Bank and Israel to the west, sharing...
, to much higher levels in parts of Kuwait
Kuwait
The State of Kuwait is a sovereign Arab state situated in the north-east of the Arabian Peninsula in Western Asia. It is bordered by Saudi Arabia to the south at Khafji, and Iraq to the north at Basra. It lies on the north-western shore of the Persian Gulf. The name Kuwait is derived from the...
, Turkey
Turkey
Turkey , known officially as the Republic of Turkey , is a Eurasian country located in Western Asia and in East Thrace in Southeastern Europe...
and Iran
Iran
Iran , officially the Islamic Republic of Iran , is a country in Southern and Western Asia. The name "Iran" has been in use natively since the Sassanian era and came into use internationally in 1935, before which the country was known to the Western world as Persia...
.
The Shimar (Shammar
Shammar
The tribe of Shammar is one of the largest tribes of Nejd-Saudi Arabia, with an estimated 1 million in Iraq, over 2.5 million in Saudi Arabia , a Kuwaiti population of around 100,000, a Syrian population is thought to exceed 1 million and with an unknown number in Jordan...
) Bedouin tribe in Kuwait
Kuwait
The State of Kuwait is a sovereign Arab state situated in the north-east of the Arabian Peninsula in Western Asia. It is bordered by Saudi Arabia to the south at Khafji, and Iraq to the north at Basra. It lies on the north-western shore of the Persian Gulf. The name Kuwait is derived from the...
show the highest frequency in the Middle East at 43%.
, noted that in the western part of the country, Iranians show low R1a1a levels, while males of eastern parts of Iran carried up to 35% R1a. found R1a in approximately 20% of Iranian males from the cities of Tehran
Tehran
Tehran , sometimes spelled Teheran, is the capital of Iran and Tehran Province. With an estimated population of 8,429,807; it is also Iran's largest urban area and city, one of the largest cities in Western Asia, and is the world's 19th largest city.In the 20th century, Tehran was subject to...
and Isfahan. , in a study of Iran
Iran
Iran , officially the Islamic Republic of Iran , is a country in Southern and Western Asia. The name "Iran" has been in use natively since the Sassanian era and came into use internationally in 1935, before which the country was known to the Western world as Persia...
, noted much higher frequencies in the south than the north.
Turkey also shows high but unevenly distributed R1a levels amongst some sub-populations. For example found relatively high levels amongst two Kurdish groups of Turkey, the Kurmanji
Kurdish people
The Kurdish people, or Kurds , are an Iranian people native to the Middle East, mostly inhabiting a region known as Kurdistan, which includes adjacent parts of Iran, Iraq, Syria, and Turkey...
(13%) and Zazaki
Kurdish people
The Kurdish people, or Kurds , are an Iranian people native to the Middle East, mostly inhabiting a region known as Kurdistan, which includes adjacent parts of Iran, Iraq, Syria, and Turkey...
(26%).
Further to the north of these Middle Eastern regions on the other hand, R1a levels start to increase in the Caucasus
Caucasus
The Caucasus, also Caucas or Caucasia , is a geopolitical region at the border of Europe and Asia, and situated between the Black and the Caspian sea...
, once again in an uneven way. Several populations studied have shown no sign of R1a, while highest levels so far discovered in the region appears to belong to speakers of the Karachay-Balkar language
Karachay-Balkar language
The Karachay-Balkar language is a Turkic language spoken by the Karachays and Balkars. It is divided into two dialects: Karachay-Baksan-Chegem which pronounces two phonemes as and , and Balkar, which pronounces the corresponding phonemes as and .- Alphabet :Modern Karachay-Balkar Cyrillic...
amongst whom about one quarter of men tested so far are in haplogroup R1a1a.
Origins and hypothesized migrations of R1a1a
Most published discussions of R1a origins are actually about the origins of the R1a1a (R-M17 or R-M198) sub-clade, which is both numerically dominant, and the most studied part of R1a. Data so far collected indicates that there two widely separated areas of high frequency, one in South AsiaSouth Asia
South Asia, also known as Southern Asia, is the southern region of the Asian continent, which comprises the sub-Himalayan countries and, for some authorities , also includes the adjoining countries to the west and the east...
, around Indo-Gangetic Plain
Indo-Gangetic plain
The northern Plains also known as the Indo - Gangetic Plain and The North Indian River Plain is a large and fertile plain encompassing most of northern and eastern India, the most populous parts of Pakistan, parts of southern Nepal and virtually all of Bangladesh...
, and the other in Eastern Europe
Eastern Europe
Eastern Europe is the eastern part of Europe. The term has widely disparate geopolitical, geographical, cultural and socioeconomic readings, which makes it highly context-dependent and even volatile, and there are "almost as many definitions of Eastern Europe as there are scholars of the region"...
, around Poland
Poland
Poland , officially the Republic of Poland , is a country in Central Europe bordered by Germany to the west; the Czech Republic and Slovakia to the south; Ukraine, Belarus and Lithuania to the east; and the Baltic Sea and Kaliningrad Oblast, a Russian exclave, to the north...
and Ukraine
Ukraine
Ukraine is a country in Eastern Europe. It has an area of 603,628 km², making it the second largest contiguous country on the European continent, after Russia...
. The historical and prehistoric possible reasons for this are the subject of on-going discussion and attention amongst population geneticists and genetic genealogists, and are considered to be of potential interest to linguists and archaeologists also.
South Asian origin hypothesis
Several recent studies have found South Asia to have the highest level of diversity of Y-STRY-STR
A Y-STR is a short tandem repeat on the Y-chromosome. Y-STRs are often used in forensics, paternity, and genealogical DNA testing.-Nomenclature:Y-STRs are assigned names by the HUGO gene nomenclature committee....
haplotype variation within R1a1a. On this basis, while several studies have concluded that the data is consistent with South Asia as the likely original point of dispersal (for example, , and ) a few have actively argued for this scenario (for example , , , and . A survey study as of December 2009, including a collation of retested Y-DNA from previous studies, concluded that a South Asian R1a1a origin was the most likely proposal amongst the various uncertain possibilities.
On the other hand, other recent studies such as continue to treat R1a in modern India as being at least partly due to immigration from the northwest associated with Indoeuropean languages and culture. One argument for this, as stated for example by , is that this is implied by the uneven distribution pattern of R1a between caste
Caste
Caste is an elaborate and complex social system that combines elements of endogamy, occupation, culture, social class, tribal affiliation and political power. It should not be confused with race or social class, e.g. members of different castes in one society may belong to the same race, as in India...
s and regions. Higher castes and more northerly Indian populations are considered to be more directly descended from the populations who brought Indoeuropean languages to India, and they tend to have higher levels of R1a than lower castes, and more southerly populations, while tribal castes and non Indoeuropean speaking groups tend to have the lowest frequencies of R1a. In order to explain exceptions to this pattern, these authors propose that R1a in India is also partly due to earlier movements of people from central Asia.
Middle East
As mentioned above, R1a haplotypes are less common in most of the Middle EastMiddle East
The Middle East is a region that encompasses Western Asia and Northern Africa. It is often used as a synonym for Near East, in opposition to Far East...
than they are in either South Asia or Eastern Europe or much of Central Asia. It has nevertheless been mentioned in speculation about the origins of the clade. This is both because there are above-described pockets of high frequency and diversity, for example in some parts of Iran and amongst some Kurdish populations. A Middle Eastern origin for R1a has long been considered a possibility, and is still considered to be consistent with known data.
Central Eurasia
argued, citing data from 3 earlier publications, that R-M17 (R1a1a) Y chromosomes most probably have a central Asian origin. Central Asia is still considered a possible place of origin by after their larger analysis of more recent data. However these authors also consider other parts of Asia, particularly South Asia, to likely places of origin. also continues to treat central Asia as the most likely region of origin, mentioning that the low genetic diversity estimates for this region compared to India and Europe could be due to "a recent founder effect or drift that led to the high frequency of R1a in the Southeastern Central Asia".Concerning R1a having a possible origin in the regions of central Asia or eastern Europe, there are two very different timeframes proposed by different researchers using different methods.
Early (pre-Holocene) eastern European migration hypotheses
| Location | TD |
| W. India | 15,800 |
| Pakistan | 15,000 |
| Nepal | 14,200 |
| India | 14,000 |
| Oman | 12,500 |
| N. India | 12,400 |
| S. India | 12,400 |
| Caucasus | 12,200 |
| E. India | 11,800 |
| Poland | 11,300 |
| Slovakia | 11,200 |
| Crete | 11,200 |
| Germany | 9,900 |
| Denmark | 9,700 |
| UAE | 9,700 |
A widely cited theory proposed in 2000 that there may have been two expansions: first, R1a1a originally spreading from a Ukrainian refugium during the Late Glacial Maximum; and then, the spread being magnified by the expansion of males from the Kurgan culture. A recent survey argues that R1a1a could be old enough for this scenario, but find it more likely that it was initially in Asia even if it was in parts of Europe by approximately 11,000 years ago.
Most age estimates for R1a1a having such an early presence in Europe come from papers using the "evolutionarily effective" methodology described by , the latest such example being and . Researchers using this dating method therefore conclude that any Neolithic or more recent dispersals of R1a1a do not represent the initial spread of the whole clade, and might be more visible in the distribution of a subclade or subclades. remark on the "geographic concordance of the R1a1a7-M458 distribution with the Chalcolithic and Early Bronze Age Corded Ware (CW) cultures of Europe". However they also note evidence contrary to a connection: Corded Ware period human remains at Eulau from which Y-DNA was extracted of R1a haplogroup appear to be R1a1a*(xM458) (which they found most similar to the modern German R1a1a* haplotype.)
In papers where the Zhivitovsky method is not the only method used, Europe's R1a1a diversity is generally understood to have been shaped more significantly by more recent events, including not only the Bronze Age, but also the spread of Slavic languages. speculated that "R1a [in Norway] might represent the spread of the Corded Ware and Battle-Axe cultures from central and east Europe." , looking at data from the Czech Republic suggested there was evidence for a rapid demographic expansion approximately 1500 years ago. also detected Y-STR evidence of a recent Slavic expansion from the area of modern Ukraine. saw evidence for a "rapid population expansion somewhat less than 1,500 years ago in the area that is now Poland".
Later (Bronze age) Steppe culture hypothesis
ArchaeologistsArchaeology
Archaeology, or archeology , is the study of human society, primarily through the recovery and analysis of the material culture and environmental data that they have left behind, which includes artifacts, architecture, biofacts and cultural landscapes...
recognize a complex of inter-related and relatively mobile culture
Archaeological culture
An archaeological culture is a recurring assemblage of artifacts from a specific time and place, which are thought to constitute the material culture remains of a particular past human society. The connection between the artifacts is based on archaeologists' understanding and interpretation and...
s living on the Eurasian steppe
Eurasian Steppe
The Eurasian Steppe is the vast steppe ecoregion of Eurasia in the Temperate grasslands, savannas, and shrublands Biome. It stretches from Hungary to Mongolia...
, part of which protrudes into Europe as far west as Ukraine
Ukraine
Ukraine is a country in Eastern Europe. It has an area of 603,628 km², making it the second largest contiguous country on the European continent, after Russia...
. These cultures from the late Neolithic
Neolithic
The Neolithic Age, Era, or Period, or New Stone Age, was a period in the development of human technology, beginning about 9500 BC in some parts of the Middle East, and later in other parts of the world. It is traditionally considered as the last part of the Stone Age...
and into the Iron Age
Iron Age
The Iron Age is the archaeological period generally occurring after the Bronze Age, marked by the prevalent use of iron. The early period of the age is characterized by the widespread use of iron or steel. The adoption of such material coincided with other changes in society, including differing...
, with specific traits such as Kurgan
Kurgan
Kurgan is the Turkic term for a tumulus; mound of earth and stones raised over a grave or graves, originating with its use in Soviet archaeology, now widely used for tumuli in the context of Eastern European and Central Asian archaeology....
burials and horse domestication, have been associated with the dispersal of Indo-European languages
Indo-European languages
The Indo-European languages are a family of several hundred related languages and dialects, including most major current languages of Europe, the Iranian plateau, and South Asia and also historically predominant in Anatolia...
across Eurasia. Nearly all samples from Bronze and Iron Age graves in the Krasnoyarsk
Krasnoyarsk
Krasnoyarsk is a city and the administrative center of Krasnoyarsk Krai, Russia, located on the Yenisei River. It is the third largest city in Siberia, with the population of 973,891. Krasnoyarsk is an important junction of the Trans-Siberian Railway and one of Russia's largest producers of...
area in south Siberia belonged to R1a1-M17 and appeared to represent an eastward migration from Europe.
Geneticists believing that they see evidence of R1a1a gene-flow from the Eurasian Steppe to India have frequently proposed the involvement of these Steppe cultures in the process. Such a Steppe origin for all or part R1a1a continues to be argued on the basis of DNA results from ancient remains from several South Siberian late Kurgan sites, including some from the Andronovo culture
Andronovo culture
The Andronovo culture, is a collection of similar local Bronze Age cultures that flourished ca. 21200–1400 BCE in western Siberia and the west Asiatic steppe. It is probably better termed an archaeological complex or archaeological horizon...
. However, in recent discussions of this theory it is considered only to apply to a part of R1a1a, making this theory no longer incompatible with other origins theories for R1a more broadly defined.
Popular science
Bryan SykesBryan Sykes
Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...
in his book Blood of the Isles gives imaginative names to the founders or "clan patriarchs" of major British Y haplogroups, much as he did for mitochondrial haplogroups in his work The Seven Daughters of Eve
The Seven Daughters of Eve
The Seven Daughters of Eve is a book by Bryan Sykes that presents the theory of human mitochondrial genetics to a general audience...
. He named R1a1a in Europe the "clan" of a "patriarch" Sigurd, reflecting the theory that R1a1a in the British Isles has Norse
Norsemen
Norsemen is used to refer to the group of people as a whole who spoke what is now called the Old Norse language belonging to the North Germanic branch of Indo-European languages, especially Norwegian, Icelandic, Faroese, Swedish and Danish in their earlier forms.The meaning of Norseman was "people...
origins. It should be noted that this does not mean that there ever was any clan or other large grouping of people, which was dominated by R1a1a or any other major haplogroup. Real clans and ethnic groups are made up of men in many Y Haplogroups.
See also
- List of R1a frequency by population
- Human Y-chromosome DNA haplogroupsHuman Y-chromosome DNA haplogroupsIn human genetics, a Human Y-chromosome DNA haplogroup is a haplogroup defined by differences in the non-recombining portions of DNA from the Y chromosome ....
- Genetic history of EuropeGenetic history of EuropeThe genetic history of Europe can be inferred from the patterns of genetic diversity across continents and time. The primary data to develop historical scenarios coming from sequences of mitochondrial, Y-chromosome and autosomal DNA from modern populations and if available from ancient DNA...
- Genetics and Archaeogenetics of South AsiaGenetics and Archaeogenetics of South AsiaThe study of the genetics and archaeogenetics of the ethnic groups of South Asia aims at uncovering these groups' genetic history. The geographic position of India makes Indian populations important for the study of the early dispersal of all human populations on the Eurasian continent.The Indian...
- Y-chromosome haplogroups by populationsY-chromosome haplogroups by populationsThe following articles are lists of human Y-chromosome DNA haplogroups found in populations and various ethnic groups by regions or continents around the world based on relevant studies, and the samples have been taken from individuals identified by linguistic designation.General*Y-DNA haplogroups...
- Nordic R1a Y-DNA ProjectNordic R1a Y-DNA ProjectNordic R1a Y-DNA Project is a private initiative originating in Norway, with the primary objective of using DNA-sequencing of the male Y chromosome for indicating kinship between members of haplogroup R1a.-Purpose:The project objectives are:...
- SomerledSomerledSomerled was a military and political leader of the Scottish Isles in the 12th century who was known in Gaelic as rí Innse Gall . His father was Gillebride...