|Possible time of origin||22,000 YBP  to 25,000 years ago|
|Possible place of origin||Eurasia (see text).|
|Descendants||Haplogroup R1a-Z282 (Europe), R1a-Z93 (Asia)|
|Defining mutations||R1a: L62, L63, L120, M420, M449, M511, M513|
R1a1a: M17, M198, M512, M514, M515, L168, L449, L457, L566
|Highest frequencies||See List of R1a frequency by population|
Haplogroup R1a, or haplogroup R-M420, is a human Y-chromosome DNA haplogroup which is distributed in a large region in Eurasia, extending from Scandinavia and Central Europe to southern Siberia and South Asia.
While R1a originated ca. 22,000 to 25,000 years ago, its subclade M417 (R1a1a1) diversified ca. 5,800 years ago. The distribution of M417-subclades R1a-Z282 (including R1a-Z280) in Central and Eastern Europe and R1a-Z93 in Asia suggests that R1a1a diversified within the Eurasian Steppes or the Middle East and Caucasus region. The place of origin of these subclades plays a role in the debate about the origins of Proto-Indo-Europeans.
The SNP mutation R-M420 was discovered after R-M17 (R1a1a), which resulted in a reorganization of the lineage in particular establishing a new paragroup (designated R-M420*) for the relatively rare lineages which are not in the R-SRY10831.2 (R1a1) branch leading to R-M17.
- 1 Origins
- 1.1 R1a origins
- 1.2 Diversification of R1a1a1 (M417) and ancient migrations
- 2 Phylogeny
- 2.1 Topology
- 2.2 Haplogroup R
- 2.3 R-M173 (R1)
- 2.4 R-M420 (R1a)
- 2.5 R-SRY1532.2 (R1a1)
- 2.6 R-M17/M198 (R1a1a)
- 2.7 R-M417 (R1a1a1)
- 3 Geographic distribution of R1a1a
- 4 Popular science
- 5 Historic naming of "R1a"
- 6 See also
- 7 Notes
- 8 References
- 9 Sources
- 10 Further reading
- 11 External links
The split of R1a (M420) is computed to ca. 22,000, or 25,000 years ago, which is the time of the last glacial maximum. A large, 2014 study by Peter A. Underhill et al., using 16,244 individuals from over 126 populations from across Eurasia, concluded that there was compelling evidence that "the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran."
Diversification of R1a1a1 (M417) and ancient migrations
According to Underhill (2014), the downstream R1a-M417 subclade diversified into Z282 and Z93 circa 5,800 years ago.[note 1] Even though R1a occurs as the most frequent Y-chromosome haplogroup among populations speaking a wide variety of languages such as Slavic, Indo-Iranian, Dravidian, Turkic and Finno-Ugric, the question of the origins of R1a1a is relevant to the ongoing debate concerning the urheimat of the Proto-Indo-European people, and may also be relevant to the origins of the Indus Valley Civilisation. R1a shows a strong correlation with Indo-European languages of Southern and Western Asia and Central and Eastern Europe, being most prevalent in Eastern Europe, West Asia, South Asia and Central Asia. In Europe, Z282 is prevalent particularly while in Asia Z93 dominates. The connection between Y-DNA R-M17 and the spread of Indo-European languages was first noted by T. Zerjal and colleagues in 1999.
Proposed steppe dispersal of R1a1a
Kivisild et al. (2003) have proposed either south or west Asia,[note 2] while Mirabal et al. (2009) see support for both south and central Asia. Other studies suggest Ukrainian, Central Asian and West Asian origins for R1a1a.
Ornella Semino et al. (2000) proposed Ukrainian origins, and a postglacial spread of the R1a1 gene during the Late Glacial Maximum, subsequently magnified by the expansion of the Kurgan culture into Europe and eastward. Spencer Wells proposes central Asian origins, suggesting that the distribution and age of R1a1 points to an ancient migration corresponding to the spread by the Kurgan people in their expansion from the Eurasian steppe. According to Pamjav et al. (2012), R1a1a diversified in the Eurasian Steppes or the Middle East and Caucasus region:
Inner and Central Asia is an overlap zone for the R1a1-Z280 and R1a1-Z93 lineages [which] implies that an early differentiation zone of R1a1-M198 conceivably occurred somewhere within the Eurasian Steppes or the Middle East and Caucasus region as they lie between South Asia and Central- and Eastern Europe."
Three genetic studies in 2015 gave support to the Kurgan theory of Gimbutas regarding the Indo-European Urheimat. According to those studies, haplogroups R1b and R1a, now the most common in Europe (R1a is also common in South Asia) would have expanded from the Russian steppes, along with the Indo-European languages; they also detected an autosomal component present in modern Europeans which was not present in Neolithic Europeans, which would have been introduced with paternal lineages R1b and R1a, as well as Indo-European languages.
Source of R1a1a1 in Corded Ware culture
David Anthony considers the Yamnaya culture to be the Indo-European Urheimat. According to Haak et al. (2015), a massive migration from the Yamnaya culture northwards took place ca. 2,500 BCE, accounting for 75% of the genetic ancestry of the Corded Ware culture, noting that R1a and R1b may have "spread into Europe from the East after 3,000 BCE". Yet, all their seven Yamnaya samples belonged to the R1b-M269 subclade, but no R1a1a has been found in their Yamnaya samples. This raises the question where the R1a1a in the Corded Ware culture came from, if it was not from the Yamnaya culture.
Haak et al. (2015) found that part of the Yamnaya ancestry derived from the Middle East, and that neolithic techniques probably arrived at the Yamnaya culture from the Balkans.[note 4] The Rossen culture (4,600–4,300 BC), which was situated on Germany and predates the Corded Ware culture, an old subclade of R1a, namely L664, can still be found.[note 5]
Transcaucasia & West Asian origins and possible influence on Indus Valley Civilisation
Part of the South Asian genetic ancestry derives from west Eurasian populations, and some researchers have implied that Z93 may have come to India via Iran and expanded there during the Indus Valley Civilisation.
Mascarenhas et al. (2015) note that the roots of Z93 lie in West Asia, and propose that "Z93 and L342.2 expanded in a southeasterly direction from Transcaucasia into South Asia," noting that such an expansion is compatible with "the archeological records of eastward expansion of West Asian populations in the 4th millennium BCE culminating in the so-called Kura-Araxes migrations in the post-Uruk IV period." Yet, Lazaridis noted that sample I1635 of Lazaridis et al. (2016), their Armenian Kura-Araxes sample, carried Y-haplogroup R1b1-M415(xM269)[note 6] (also called R1b1a1b-CTS3187).
According to Underhill et al. (2014/2015) the diversification of Z93 and the "early urbanization within the Indus Valley [...] occurred at [5,600 years ago] and the geographic distribution of R1a-M780 (Figure 3d[note 7]) may reflect this."[note 8] Poznik et al. (2016) note that 'striking expansions' occurred within R1a-Z93 at ~4,500–4,000 years ago, which "predates by a few centuries the collapse of the Indus Valley Civilisation."[note 9]
Proposed South Asian origins
South Asian populations have the highest STR diversity within R1a1a, and subsequent older TMRCA datings,[note 11] and R1a1a is present among both higher (Brahmin) castes and lower castes, although the presence is substantially higher among Brahmin castes. From these findings some researchers have concluded that R1a1a originated in South Asia,[note 12] excluding a substantial genetic influx from Indo-European migrants.
However, this diversity, and the subsequent older TMRCA-datings, can also be explained by the historically high population numbers, which increases the likelihood of diversification and microsatellite variation. According to Sengupta et al. (2006), "[R1a1 and R2] could have actually arrived in southern India from a southwestern Asian source region multiple times."[note 13] Silva et al. (2017) noted that R1a in South Asia most "likely spread from a single Central Asian source pool, there do seem to be at least three and probably more R1a founder clades within the Subcontinent, consistent with multiple waves of arrival." According to Martin P. Richards, co-author of Silva et al. (2017), "[the prevalence of R1a in India was] very powerful evidence for a substantial Bronze Age migration from central Asia that most likely brought Indo-European speakers to India."[note 14]
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 will be found with various names; in particular, as "R1a1" in relatively recent but not the latest literature.)
The topology of R1a is as follows (codes [in brackets] non-isogg codes): Tatiana et al. (2014) "rapid diversification process of K-M526 likely occurred in Southeast Asia, with subsequent westward expansions of the ancestors of haplogroups R and Q." 
- P P295/PF5866/S8 (also known as K2b2).
- R (R-M207)
- R1 (R-M173)
- R1a (M420) (Eastern Europe, Asia)
- R1a1 (M459/PF6235, SRY1532.2/SRY10831.2)
- R1a1 (M459)
- R1a1a (M17, M198)
- R1a1a1 (M417, page7)
- R1a1a1a (CTS7083/L664/S298)
- R1a1a1b (S224/Z645, S441/Z647)
- R1a1a1b1 (PF6217/S339/Z283)
- R1a1a1b1a (Z282) [R1a1a1a*] (Z282) (Europe)
- R1a1a1b1a1 [The old topological code is R1a1a1b*，which is outdated and might lead to some confusion.] (M458) [R1a1a1g] (M458)
- R1a1a1b1a2 (S466/Z280, S204/Z91)
- R1a1a1b1a3 (Z284) [R1a1a1a1] (Z284)
- R1a1a1b1a (Z282) [R1a1a1a*] (Z282) (Europe)
- R1a1a1b2 (F992/S202/Z93) [R1a1a2*] (Z93, M746)(Asia)
- R1a1a1b2a (F3105/S340/Z94, L342.2/S278.2) [R1a1b2a*] (Z95) R-Z94 (Z94/F3105/S340, Z95/F3568)
- R1a1a1b1 (PF6217/S339/Z283)
- [R1a1a1c] (M64.2, M87, M204)
- [R1a1a1d] (P98)
- [R1a1a1e] (PK5)
- R1a1a1 (M417, page7)
- R1b (M343) (Western Europe)
R1a is distinguished by several unique markers, including the M420 mutation. It is a subclade of Haplogroup R-M173 (previously called R1). R1a has the sister-subclades Haplogroup R1b-M343, and the paragroup R-M173*.
R-M420, defined by the mutation M420, has two branches: R-SRY1532.2, defined by the mutation SRY1532.2, which makes up the vast majority; and R-M420*, 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 R-M420* were found by Underhill 2009, mostly in the Middle East and Caucasus: 1/121 Omanis, 2/150 Iranians, 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.
R1a1 is defined by SRY1532.2 or SRY10831.2 (understood to always include SRY10831.2, M448, L122, M459, and M516). This family of lineages is dominated by M17 and M198. In contrast, paragroup R-SRY1532.2* lacks either the M17 or M198 markers.
The R-SRY1532.2* paragroup is apparently less rare than R1*, but still relatively unusual, though it has been tested in more than one survey. Underhill et all. (2009) reported 1/51 in Norway, 3/305 in Sweden, 1/57 Greek Macedonians, 1/150 Iranians, 2/734 ethnic Armenians, and 1/141 Kabardians. Sahoo et al. (2006) reported R-SRY1532.2* for 1/15 Himachal Pradesh Rajput samples.
The following SNPs are associated with R1a1a:
|SNP||Mutation||Y-position (NCBI36)||Y-position (GRCh37)||RefSNP ID|
R1a1a1 (R-M417) is the most widely found subclade, in two variations which are found respectively in Europe (R1a1a1b1 (R-Z282) ([R1a1a1a*] (R-Z282) (Underhill 2014/2015)) and Central and South Asia (R1a1a1b2 (R-Z93) ([R1a1a2*] (R-Z93) Underhill 2014/2015)).
R-Z282 (R1a1a1b1a) (Eastern Europe)
This large subclade appears to encompass most of the R1a1a found in Europe.
- R1a1a1b1a [R1a1a1a* (Underhill (2014))] (R-Z282*) occurs in northern Ukraine, Belarus, and Russia at a frequency of ~20%. (Underhill et al. 2014)
- R1a1a1b1a3 [R1a1a1a1 (Underhill (2014))] (R-Z284) occurs in Northwest Europe and peaks at ~20% in Norway. (Underhill et al. 2014)
- R1a1a1c (M64.2, M87, M204) is apparently rare: it was found in 1 of 117 males typed in southern Iran.
R-M458 is a mainly Slavic SNP, characterized by its own mutation, and was first called cluster N. Underhill et al. (2009) found it to be present in modern European populations roughly between the Rhine catchment and the Ural Mountains and traced it to "a founder effect that [...] falls into the early Holocene period, 7.9±2.6 KYA." M458 was found in one skeleton from a 14th-century grave field in Usedom, Mecklenburg-Vorpommern, Germany. The paper by Underhill et al. (2009) also reports a surprisingly high frequency of M458 in some Northern Caucasian populations (for example 27.5% among Karachays and 23.5% among Balkars, 7.8% among Karanogays and 3.4% among Abazas).
R-L260 (R1a1a1b1a1a) (Gwozdz's cluster P)
R1a1a1b1a1a (R-L260), commonly referred to as West Slavic or Polish, is a subclade of the larger parent group R-M458, and was first identified as an STR cluster by Pawlowski 2002 and then by Gwozdz 2009. Thus, R-L260 was what Gwozdz 2009 called cluster "P." In 2010 it was verified to be a haplogroup identified by its own mutation (SNP). It apparently accounts for about 8% of Polish men, making it the most common subclade in Poland. Outside of Poland it is less common (Pawlowski 2002). In addition to Poland, it is mainly found in the Czech Republic and Slovakia, and is considered "clearly West Slavic." The founding ancestor of R-L260 is estimated to have lived between 2000 and 3000 years ago, i.e. during the Iron Age, with significant population expansion less than 1,500 years ago.
R-M334 ([R1a1a1g1], a subclade of [R1a1a1g] (M458) c.q. R1a1a1b1a1 (M458)) was found by Underhill et al. (2009) only in one Estonian man and may define a very recently founded and small clade.
R1a1a1b1a2 (S466/Z280, S204/Z91)
R1a1a1b1a2b3* (Gwozdz's Cluster K)
R1a1a1b1a2b3* (M417+, Z645+, Z283+, Z282+, Z280+, CTS1211+, CTS3402, Y33+, CTS3318+, Y2613+) (Gwozdz's Cluster K) is a STR based group that is R-M17(xM458). This cluster is common in Poland but not exclusive to Poland.
R1a1a1b2 (R-Z93) (Asia)
|Number||Freq. (%)||Number||Freq. (%)|
|Table only shows positive sets from N = 3667 derived from 60 Eurasian populations sample.|
This large subclade appears to encompass most of the R1a1a found in Asia.
- R-Z93* or R1a1a1b2* (R1a1a2* in Underhill (2014)) is most common (>30%) in the South Siberian Altai region of Russia, cropping up in Kyrgyzstan (6%) and in all Iranian populations (1–8%).
- R-Z2125 occurs at highest frequencies in Kyrgyzstan and in Afghan Pashtuns (>40%). At a frequency of >10%, it is also observed in other Afghan ethnic groups and in some populations in the Caucasus and Iran.
- R-M560 is very rare and was only observed in four samples: two Burushaski speakers (north Pakistan), one Hazara (Afghanistan), and one Iranian Azerbaijani.
- R-M780 occurs at high frequency in South Asia: India, Pakistan, Afghanistan, and the Himalayas. The group also occurs at >3% in some Iranian populations and is present at >30% in Roma from Croatia and Hungary.
Geographic distribution of R1a1a
Haplogroup R1a has been found in ancient fossils associated with the Corded Ware culture and Urnfield culture;[unreliable source?] as well as the burial of the remains of the Sintashta culture, Andronovo culture, the Pazyryk culture, Tagar culture and Tashtyk culture, the inhabitants of ancient Tanais, in the Tarim mummies, the aristocracy Xiongnu, in two ancient Khazar fossils. The skeletal 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 Ysearch number for the Eulau remains is 2C46S. The ancestral clade was thus present in Europe at least 4600 years ago, in association with one site of the widespread Corded Ware culture.
In Europe, the R1a1 sub-clade is found at highest levels among peoples of Central and Eastern European descent, with results ranging from 35-65% among Czechs, Hungarians, Poles, Slovaks, western Ukrainians (particularly Rusyns), Belarusians, Moldovans, and Russians. In the Baltics, R1a1a frequencies decrease from Lithuania (45%) to Estonia (around 30%).
There is a significant presence in peoples of Scandinavian descent, with highest levels in Norway and Iceland, where between 20 and 30% of men are in R1a1a. Vikings 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 R1a1a reaches a peak frequency in Rostock at a percentage of 31.3%, it averages between 20 and 30%.
In Southern Europe R1a1a is not common, but 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 more than 30% in Slovenia, Croatia and Greek Macedonia, but less than 10% in Albania, Kosovo and parts of Greece on south from Olympus gorge.
R1a is virtually composed only of the Z284 subclade in Scandinavia, which is only found in single sample of a Slovenian in Eastern Europe, where the main subclade is Z282 (Z280 and M458) and there is a negligible representation of Z93 in each region other than Turkey. The West Slavs and Hungarians are characterized by a high frequency of the subclade M458 and a low Z92, a subclade of Z280. Hundreds of samples of each Slovenians, and Czechs lack the Z92 subclade of Z280, while Poles, Slovaks, Croats and Hungarians only show a very low frequency of Z92. The Balts, East Slavs, Serbs, Macedonians, Bulgarians and Romanians demonstrate a ratio Z280>M458 and a high, up to a prevailing share of Z92. Balts and East Slavs have the same subclades and similar frequencies in a more detailed phylogeny of the subclades. The Russian geneticist Oleg Balanovsky speculated that there is a predominance of the assimilated pre-Slavic substrate in the genetics of East and West Slavic populations, according to him the common genetic structure which contrasts East Slavs and Balts from other populations may suggest the explanation that the pre-Slavic substrate of the East Slavs consisted most significantly of Baltic-speakers, which at one point predated the Slavs in the cultures of the Eurasian steppe according to archaeological and toponymic references.
Haber et al. (2012) found R1a1a-M17(xM458) in 26.0% (53/204) of a set of samples from Afghanistan, including 60% (3/5) of a sample of Nuristanis, 51.0% (25/49) of a sample of Pashtuns, 30.4% (17/56) of a sample of Tajiks, 17.6% (3/17) of a sample of Uzbeks, 6.7% (4/60) of a sample of Hazaras, and in the only sampled Turkmen individual.
Di Cristofaro et al. (2013) found R1a1a-M198/M17 in 56.3% (49/87) of a pair of samples of Pashtuns from Afghanistan (including 20/34 or 58.8% of a sample of Pashtuns from Baghlan and 29/53 or 54.7% of a sample of Pashtuns from Kunduz), 29.1% (37/127) of a pool of samples of Uzbeks from Afghanistan (including 28/94 or 29.8% of a sample of Uzbeks from Jawzjan, 8/28 or 28.6% of a sample of Uzbeks from Sar-e Pol, and 1/5 or 20% of a sample of Uzbeks from Balkh), 27.5% (39/142) of a pool of samples of Tajiks from Afghanistan (including 22/54 or 40.7% of a sample of Tajiks from Balkh, 9/35 or 25.7% of a sample of Tajiks from Takhar, 4/16 or 25.0% of a sample of Tajiks from Samangan, and 4/37 or 10.8% of a sample of Tajiks from Badakhshan), 16.2% (12/74) of a sample of Turkmens from Jawzjan, and 9.1% (7/77) of a pair of samples of Hazara from Afghanistan (including 7/69 or 10.1% of a sample of Hazara from Bamiyan and 0/8 or 0% of a sample of Hazara from Balkh).
Malyarchuk et al. (2013) found R1a1-SRY10831.2 in 30.0% (12/40) of a sample of Tajiks from Tajikistan.
Ashirbekov et al. (2017) found R1a-M198 in 6.03% (78/1294) of a set of samples of Kazakhs from Kazakhstan. R1a-M198 was observed with greater than average frequency in the study's samples of the following Kazakh tribes: 13/41 = 31.7% of a sample of Suan, 8/29 = 27.6% of a sample of Oshaqty, 6/30 = 20.0% of a sample of Qozha, 4/29 = 13.8% of a sample of Qypshaq, 1/8 = 12.5% of a sample of Tore, 9/86 = 10.5% of a sample of Jetyru, 4/50 = 8.0% of a sample of Argyn, 1/13 = 7.7% of a sample of Shanyshqyly, 8/122 = 6.6% of a sample of Alimuly, 3/46 = 6.5% of a sample of Alban. R1a-M198 also was observed in 5/42 = 11.9% of a sample of Kazakhs of unreported tribal affiliation.
In India, high frequencies of this haplogroup is observed in West Bengal Brahmins (72%) to the east, Gujarat Lohanas (60%)  to the west, Khatris (67%) in the north and Iyengar Brahmins (31%) in the south. It has also been found in several South Indian Dravidian-speaking Adivasis including the Chenchu (26%) and the Valmikis of Andhra Pradesh, Kota (22.58%) and the Kallar of Tamil Nadu suggesting that R1a1a is widespread in Tribal Southern Indians.
In Pakistan it is found at 71% among the Mohanna tribe in Sindh province to the south and 46% among the Baltis of Gilgit-Baltistan to the north. Among the Sinhalese of Sri Lanka, 23% were found to be R1a1a (R-SRY1532) positive. Hindus of Chitwan District in the Terai region Nepal show it at 69%.
The frequency of R1a1a is comparatively low among some Turkic-speaking groups like Yakuts, yet levels are higher (19 to 28%) in certain Turkic or Mongolic-speaking groups of Northwestern China, such as the Bonan, Dongxiang, Salar, and Uyghurs.
A Chinese paper published in 2018 found R1a-Z94 in 38.5% (15/39) of a sample of Keriyalik Uyghurs from Darya Boyi/Darya Boye Village, Yutian/Keriya County, Xinjiang (于田县达里雅布依乡), R1a-Z93 in 28.9% (22/76) of a sample of Dolan Uyghurs from Horiqol township, Awat County, Xinjiang (阿瓦提县乌鲁却勒镇), and R1a-Z93 in 6.3% (4/64) of a sample of Loplik Uyghurs from Karquga/Qarchugha Village, Yuli/Lopnur County, Xinjiang (尉犁县喀尔曲尕乡). R1a(xZ93) was observed only in one of 76 Dolan Uyghurs. Note that Darya Boyi Village is located in a remote oasis formed by the Keriya River in the Taklamakan Desert.
In a 2014 paper, R1a1a has been detected in 1.8% (2/110) of Chinese samples. These two samples (R-M17, R-M198, R-M434, R-M458 for both) belonged to Han individuals from Fujian and Shanxi provinces.
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 Jordan, to much higher levels in parts of Kuwait and Iran. The Shimar (Shammar) Bedouin tribe in Kuwait show the highest frequency in the Middle East at 43%.)
Wells 2001, 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% R1a1a. Nasidze 2004 found R1a1a in approximately 20% of Iranian males from the cities of Tehran and Isfahan. Regueiro 2006 in a study of Iran, noted much higher frequencies in the south than the north.
A newer study has found 20.3% R-M17* among Kurdish samples which were taken in the Kurdistan Province in western Iran, 9.7% among Mazandaranis in North Iran in the province of Mazandaran, 9.4% among Gilaks in province of Gilan, 12.8% among Persian and 17.6% among Zoroastrians in Yazd, 18.2% among Persians in Isfahan, 20.3% among Persians in Khorasan, 16.7% Afro-Iranians, 18.4% Qeshmi "Gheshmi", 21.4% among Persian Speaking Bandari people in Hormozgan and 25% among the Baloch people in Sistan and Baluchestan Province.
Di Cristofaro et al. (2013) found haplogroup R1a in 9.68% (18/186) of a set of samples from Iran, though with a large variance ranging from 0% (0/18) in a sample of Iranians from Tehran to 25% (5/20) in a sample of Iranians from Khorasan and 27% (3/11) in a sample of Iranians of unknown provenance. All Iranian R1a individuals carried the M198 and M17 mutations except one individual in a sample of Iranians from Gilan (n=27), who was reported to belong to R1a-SRY1532.2(xM198, M17).
Malyarchuk et al. (2013) found R1a1-SRY10831.2 in 20.8% (16/77) of a sample of Persians collected in the provinces of Khorasan and Kerman in eastern Iran, but they did not find any member of this haplogroup in a sample of 25 Kurds collected in the province of Kermanshah in western Iran.
Haplogroup R1a1a was found at elevated levels among a sample of the Israeli population who self-designated themselves as Levites and Ashkenazi Jews (Levites comprise approximately 4% of Jews). Behar reported R1a1a to be the dominant haplogroup in Ashkenazi Levites (52%), although rare in Ashkenazi Cohanim (1.3%).
Further to the north of these Middle Eastern regions on the other hand, R1a1a levels start to increase in the Caucasus, once again in an uneven way. Several populations studied have shown no sign of R1a1a, while highest levels so far discovered in the region appears to belong to speakers of the Karachay-Balkar language among whom about one quarter of men tested so far are in haplogroup R1a1a.
Bryan Sykes 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.
Historic naming of "R1a"
The historic naming system commonly used for R1a was inconsistent in different published sources, because it changed often; this requires some explanation.
In 2002, the Y Chromosome Consortium (YCC) proposed a new naming system for haplogroups (YCC 2002), 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", as used in (Semino 2000) 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. Note, SRY1532.2 is also known as SRY10831.2 The discovery of M420 in 2009 has caused a reassignment of these phylogenetic names.(Underhill 2009 and ISOGG 2012) 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.
More recent updates recorded at the ISOGG reference webpage involve branches of R-M17, including one major branch, R-M417.
|2002 Scheme proposed in (YCC 2002)||2009 Scheme as per (2009)||ISOGG tree as per January 2011|
Y-DNA R-M207 subclades
Y-DNA backbone tree
|Phylogenetic tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]|
|A00||A0-T [χ 3]|
|A0||A1 [χ 4]|
|I||J||LT [χ 5]||K2 [χ 6]|
|L||T||K2a [χ 7]||K2b [χ 8]||K2c||K2d||K2e [χ 9]|
|K-M2313 [χ 10]||K2b1 [χ 11]||P [χ 12]|
|NO||S [χ 13]||M [χ 14]||P1||P2|
- According to Family Tree, they diversified ca. 5,000 years ago.
- Kivisild et al. (2003): "Haplogroup R1a, previously associated with the putative Indo-Aryan invasion, was found at its highest frequency in Punjab but also at a relatively high frequency (26%) in the Chenchu tribe. This finding, together with the higher R1a-associated short tandem repeat diversity in India and Iran compared with Europe and central Asia, suggests that southern and western Asia might be the source of this haplogroup."
- Semenov and Bulat refer to the following publications:
5. Haak W. et al. Massive migration from the steppe is a source for Indo-European languages in Europe. doi:10.1101/013433.
6. Mathieson I et al. Eight thousand years of natural selection in Europe. doi:10.1101/016477
8. Chekunova Е.М., Yartseva N.V., Chekunov М.К., Мazurkevich А.N. The First Results of the Genotyping of the Aboriginals and Human Bone Remains of the Archeological Memorials of the Upper Podvin’e. // Archeology of the lake settlements of IV—II Thousands BC: The chronology of cultures and natural environment and climatic rhythms. Proceedings of the International Conference, Devoted to the 50-year Research of the Pile Settlements on the North-West of Russia. St. Petersburg, 13–15 November 2014.
9. Eppie R. Jones et al. Upper Palaeolithic genomes reveal deep roots of modern Eurasians. Nature Communications. doi:10.1038/ncomms9912 PMID 26567969
- Yet, Haak et al. also explicitly state: "...a type of Near Eastern ancestry different from that which was introduced by early farmers."
- According to Family Tree DNA, L664 formed 4,700 ybp, that is, 2,700 BCE.
- Lazaridis, Twitter, 18 juni 2016: "I1635 (Armenia_EBA) is R1b1-M415(xM269). We'll be sure to include in the revision. Thanks to the person who noticed! #ILovePreprints."
See also Eurogenes Blog, Big deal of 2016: the territory of present-day Iran cannot be the Indo-European homeland, for a discussion of the same topic.
- See map for M780 distribution at Dieneke's Anthropology Blog, Major new article on the deep origins of Y-haplogroup R1a (Underhill et al. 2014)
- According to Family Tree DNA, M780 formed 4700 ybp. This dating coincides with the eastward movement between 2800 and 2600 BCE of the Yamnaya culture into the region of the Poltavka culture, a predecessor of the Sintashta culture, from which the Indo-Iranians originated. M780 is concentrated in the Ganges Valley, the locus of the classic Vedic society.
- Poznik et al. (2026) calculate with a generation time of 30 years; a generation time of 20 years yields other results.
- "The evidence that the Steppe_MLBA [Middle to Late Bronze Age] cluster is a plausible source for the Steppe ancestry in South Asia is also supported by Y chromosome evidence, as haplogroup R1a which is of the Z93 subtype common in South Asia today [Underhill et al 2015, M. Silva et al 2017] was of high frequency in Steppe_MLBA (68%) (16), but rare in Steppe_EMBA [Early to Middle Bronze Age] (absent in our data)."
- Lucotte (2015) dates the origin in the subcontinent to approximately 15,500 year before present Datations show that the Z93 Pakistano-Indian group is the most ancient (about 15,5 K years); in Europe, the Eastern populations are the most ancient (about 12,5 K years) and the Northern ones the most recent.
- Sahoo et al. (2006): "... one should expect to observe dramatically lower genetic variation among Indian Rla lineages. In fact, the opposite is true: the STR haplotype diversity on the background of R1a in Central Asia (and also in Eastern Europe) has already been shown to be lower than that in India (6). Rather, the high incidence of R1* and Rla throughout Central Asian European populations (without R2 and R* in most cases) is more parsimoniously explained by gene flow in the opposite direction, possibly with an early founder effect in South or West Asia.
- Sharma et al. (2009): "A peculiar observation of the highest frequency (up to 72.22%) of Y-haplogroup R1a1* in Brahmins hinted at its presence as a founder lineage for this caste group. Further, observation of R1a1* in different tribal population groups, existence of Y-haplogroup R1a* in ancestors and extended phylogenetic analyses of the pooled dataset of 530 Indians, 224 Pakistanis and 276 Central Asians and Eurasians bearing the R1a1* haplogroup supported the autochthonous origin of R1a1 lineage in India and a tribal link to Indian Brahmins. However, it is important to discover novel Y-chromosomal binary marker(s) for a higher resolution of R1a1* and confirm the present conclusions."
- Sengupta et al. (2006): "The widespread geographic distribution of HG R1a1-M17 across Eurasia and the current absence of informative subdivisions defined by binary markers leave uncertain the geographic origin of HG R1a1-M17. However, the contour map of R1a1-M17 variance shows the highest variance in the northwestern region of India [...] The question remains of how distinctive is the history of L1 relative to some or all of R1a1 and R2 representatives. This uncertainty neutralizes previous conclusions that the intrusion of HGs R1a1 and R2 from the northwest in Dravidian-speaking southern tribes is attributable to a single recent event. [R1a1 and R2] could have actually arrived in southern India from a southwestern Asian source region multiple times, with some episodes considerably earlier than others. Considerable archeological evidence exists regarding the presence of Mesolithic peoples in India (Kennedy 2000), some of whom could have entered the subcontinent from the northwest during the late Pleistocene epoch. The high variance of R1a1 in India (table 12), the spatial frequency distribution of R1a1 microsatellite variance clines (fig. 4), and expansion time (table 11) support this view."
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Прежде всего, это преобладание в славянских популяциях дославянского субстрата — двух ассимилированных ими генетических компонентов – восточноевропейского для западных и восточных славян и южноевропейского для южных славян...Можно с осторожностью предположить, что ассимилированный субстратмог быть представлен по преимуществу балтоязычными популяциями. Действительно, археологические данные указыва ют на очень широкое распространение балтских групп перед началом расселения славян. Балтскийсубстрату славян (правда, наряду с финно-угорским) выявляли и антропологи. Полученные нами генетические данные — и на графиках генетических взаимоотношений, и по доле общих фрагментов генома — указывают, что современные балтские народы являются ближайшими генетически ми соседями восточных славян. При этом балты являются и лингвистически ближайшими род ственниками славян. И можно полагать, что к моменту ассимиляции их генофонд не так сильно отличался от генофонда начавших свое широкое расселение славян. Поэтому если предположить,что расселяющиеся на восток славяне ассимилировали по преимуществу балтов, это может объяснить и сходство современных славянских и балтских народов друг с другом, и их отличия от окружающих их не балто-славянских групп Европы...В работе высказывается осторожное предположение, что ассимилированный субстрат мог быть представлен по преимуществу балтоязычными популяциями. Действительно, археологические данные указывают на очень широкое распространение балтских групп перед началом расселения славян. Балтский субстрат у славян (правда, наряду с финно-угорским) выявляли и антропологи. Полученные в этой работе генетические данные — и на графиках генетических взаимоотношений, и по доле общих фрагментов генома — указывают, что современные балтские народы являются ближайшими генетическими соседями восточных славян.
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|Wikimedia Commons has media related to Haplogroup R1a of Y-DNA.|
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