Haplogroup R1a

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Haplogroup R-M420
)

Haplogroup R1a
Possible time of origin22,000[1] to 25,000[2] years ago
Possible place of originEurasia
AncestorHaplogroup R1
DescendantsR1a-Z282, R1a-Z93
Defining mutations
  • R1a: L62, L63, L120, M420, M449, M511, M513
  • R1a1a: M17, M198, M512, M514, M515, L168, L449, L457, L566
Highest frequenciesSee List of R1a frequency by population
Map showing frequency of R1a haplogroup in Europe

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 Central Asia, southern Siberia and South Asia.[3][2]

While one genetic study indicates that R1a originated 25,000[2] years ago, its subclade M417 (R1a1a1) diversified c. 5,800 years ago.[4] The place of origin of the subclade 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.

Origins

R1a origins

The

Eastern Hunter-Gatherers (from Eastern Europe, c. 13,000 years ago),[5][6] and the earliest case of R* among Upper Paleolithic Ancient North Eurasians,[7] from which the Eastern Hunter-Gatherers predominantly derive their ancestry.[8]

Diversification of R1a1a1 (M417) and ancient migrations

R1a origins (Underhill 2009;[3] R1a1a origins (Pamjav et al. 2012); possible migration R1a to Baltic coast; and R1a1a oldest expansion and highest frequency (Underhill et al. 2014)

According to

Western Asia, Central and Eastern Europe and to Scandinavia[10][3] being most prevalent in Eastern Europe, West Asia, and South 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.[11]

Proposed steppe dispersal of R1a1a

, 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.[14]

Three genetic studies in 2015 gave support to the

R1b and R1a, now the most common in Europe (R1a is also common in South Asia) would have expanded from the Pontic–Caspian 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.[15][16][17]

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 Indian subcontinent, consistent with multiple waves of arrival."[18] 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."[19][note 2]

Proposed South Asian origins

Kivisild et al. (2003) have proposed either South or West Asia,[20][note 3] while Mirabal et al. (2009) see support for both South and Central Asia.[10] Sengupta et al. (2006) have proposed Indian origins.[21] Thanseem et al. (2006) have proposed either South or Central Asia.[22] Sahoo et al. (2006) have proposed either South or West Asia.[23] Thangaraj et al. (2010) have also proposed a South Asian origin.[24] Sharma et al.(2009) theorizes the existence of R1a in India beyond 18,000 years to possibly 44,000 years in origin.[1]

South Asian populations have the highest STR diversity within R1a1a,[25][26][10][3][1][27] and subsequent older TMRCA datings,[citation needed] and R1a1a is present among both higher (Brahmin) castes and lower castes, although the frequency is higher among Brahmin castes. Nevertheless, the oldest TMRCA datings of the R1a haplogroup occur in the Saharia tribe, a scheduled caste of the Bundelkhand region of Central India.[1][27] From these findings some researchers have concluded that R1a1a originated in South Asia,[26][1][note 4][note 5] excluding a more recent, yet minor, genetic influx from Indo-European migrants in northwestern regions such as Afghanistan, Balochistan, Punjab, and Kashmir.[26][25][3]

However, this diversity, and the subsequent older TMRCA-datings, can also be explained by the historically high population numbers,[note 6] which increases the likelihood of diversification and microsatellite variation.[19][18] According to Sengupta et al. (2006), "[R1a1 and R2] could have actually arrived in southern India from a southwestern Asian source region multiple times."[25][note 7] However, Sengupta also described in this article:

We found that the influence of Central Asia on the pre-existing gene pool was minor. The ages of accumulated microsatellite variation in the majority of Indian haplogroups exceed 10,000–15,000 years, which attests to the antiquity of regional differentiation. Therefore, our data do not support models that invoke a pronounced recent genetic input from Central Asia to explain the observed genetic variation in South Asia.

In the MIT publishing, "Inequality a genetic Theory", it is stated "the phylogenetic reconstruction of R1a does not support a South Asian origin." Despite the source (i.e. MIT) bearing credibility, the phylogenetic reconstruction the author is referring to is not cited, also excluding the fact that phylogenetic reconstructions have large margins of error mainly attributing to "Model Uncertainty" since assumptions are made on the evolutionary/Mutation process beforehand (Here it would refer to Different models of evolution may produce different phylogenetic trees, leading to uncertainty in the inferred relationships.), also excluding errors generated due to sampling, measurement and of course statistical uncertainty. The mainstream position among geneticists is that haplogroup R1a did not originate in South Asia, and that the bearers of haplogroup R1a moved from West Asia to South Asia some time after the establishment of the

Indus Valley Civilization.[29][30]

Proposed Yamnaya origins

European middle-Neolithic period. Comb Ware culture c. 4200 – c. 2000 BCE
Corded Ware culture (c. 2900 – c. 2350 BCE

David Anthony considers the Yamnaya culture to be the Indo-European Urheimat.[31][32] According to Haak et al. (2015), a massive migration from the Yamnaya culture northwards took place c. 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".[33] Yet, all their seven Yamnaya samples belonged to the R1b-M269 subclade,[33] 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.[34]

According to Marc Haber, the absence of haplogroup R1a-M458 in Afghanistan does not support a Pontic-Caspian steppe origin for the R1a lineages in modern Central Asian populations.[35]

According to

Eastern Hunter Gatherer populations) makes it unlikely that Europeans inherited haplogroup R1a from Yamnaya.[36]

Archaeologist Barry Cunliffe has said that the absence of haplogroup R1a in Yamnaya specimens is a major weakness in Haak's proposal that R1a has a Yamnaya origin.[37]

Comb Ware culture.[38][note 8]

Proposed Transcaucasia and West Asian origins and possible influence on Indus Valley Civilization

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 9] The Rössen 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 10]

Part of the South Asian genetic ancestry derives from west Eurasian populations, and some researchers have implied that Z93 may have come to

Indus Valley civilization.[2][41]

Transcaucasia into South Asia",[40] 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."[40] Yet, Lazaridis noted that sample I1635 of Lazaridis et al. (2016), their Armenian Kura-Araxes sample, carried Y-haplogroup R1b1-M415(xM269)[note 11] (also called R1b1a1b-CTS3187).[42][unreliable source?
]

According to Underhill et al. (2014) 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 12]) may reflect this."[2][note 13] Poznik et al. (2016) note that "striking expansions" occurred within R1a-Z93 at c. 4,500–4,000 years ago, which "predates by a few centuries the collapse of the Indus Valley Civilisation."[41][note 14]

However, according to Narasimhan et al. (2018), steppe pastoralists are a likely source for R1a in India.[44][note 15]

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 will be found with various names such as "R1a1" in relatively recent but not the latest literature).

Topology

The topology of R1a is as follows (codes [in brackets] non-isogg codes):[9][45][verification needed][46][2][47] 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."[48]

  • P P295/PF5866/S8 (also known as K2b2).
  • R (R-M207)[46][9]
    • R*
    • R1 (R-M173)
      • R1*[46]
      • R1a (M420)[46] (Eastern Europe, Asia)[2]
        • R1a*[9]
        • R1a1[46] (M459/PF6235,[46] SRY1532.2/SRY10831.2[46]
          )
          • R1a1 (M459)[46][9]
          • R1a1a (M17, M198)[46]
            • R1a1a1 (M417, page7)[46]
              • R1a1a1a (CTS7083/L664/S298)[46]
              • R1a1a1b (S224/Z645, S441/Z647)[46]
                • R1a1a1b1 (PF6217/S339/Z283)[46]
                  • R1a1a1b1a (Z282)[46] [R1a1a1a*] (Z282) [49] (Eastern Europe)
                    • R1a1a1b1a1[46] [The old topological code is R1a1a1b*,which is outdated and might lead to some confusion.][49] (M458)[46][49] [R1a1a1g] (M458)[47]
                    • R1a1a1b1a2[46] (S466/Z280, S204/Z91)[46]
                      • R1a1a1b1a2a[46]
                      • R1a1a1b1a2b (CTS1211)[46] [R1a1a1c*] (M558)[49] [R-CTS1211] (V2803/CTS3607/S3363/M558, CTS1211/S3357, Y34/FGC36457)[9]
                        • R1a1a1b1a2b3* (M417+, Z645+, Z283+, Z282+, Z280+, CTS1211+, CTS3402, Y33+, CTS3318+, Y2613+) (Gwozdz's Cluster K)[45][verification needed]
                        • R1a1a1b1a2b3a (L365/S468)[46]
                    • R1a1a1b1a3 (Z284)[46] [R1a1a1a1] (Z284)[49]
                • R1a1a1b2 (F992/S202/Z93)[46] [R1a1a2*] (Z93, M746)[49] (Central Asia, South Asia and West Asia)
                  • R1a1a1b2a (F3105/S340/Z94, L342.2/S278.2)[46] [R1a1b2a*] (Z95)[49] R-Z94 (Z94/F3105/S340, Z95/F3568)[9]
                    • R-Z2124 (Z2121/S3410, Z2124)[9]
                      • [R1a1b2a*] (Z2125)[49]
                        • [R1a1b2a*] (M434)[49] [R1a1a1f] (M434)[47]
                        • [R1a1b2a*] (M204)[49]
                    • [R1a1b2a1*] (M560)[49]
                    • [R1a1b2a2*] (M780, L657)[49] (India)[2]
                    • [R1a1b2a3*] (Z2122, M582)[49]
              • [R1a1a1c] (M64.2, M87, M204)[47]
              • [R1a1a1d] (P98)[47]
              • [R1a1a1e] (PK5)[47]
      • R1b (M343) (Western Europe)
    • R2 (India)

Haplogroup R

Haplogroup R phylogeny
 
R  (M207)   
 R1   (M173)   
  M420 

 R1a

  M343 

 

R1b

 M173(xM420, M343) 

 R1*

R2
(M479)    

R* M207(xM173, M479)

R-M173 (R1)

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 (R1a)

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.[3][51]

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.[3]

This paragroup is now known as R1a2 (R-YP4141). It then has two branches R1a2a (R-YP5018) and R1a2b (R-YP4132).

R-SRY1532.2 (R1a1)

R1a1 is defined by SRY1532.2 or SRY10831.2 (understood to always include SRY10831.2, M448, L122, M459, and M516[3][52]). 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 al. (2009) reported 1/51 in

Greek Macedonians, 1/150 Iranians, 2/734 ethnic Armenians, and 1/141 Kabardians.[3] Sahoo et al. (2006) reported R-SRY1532.2* for 1/15 Himachal Pradesh Rajput samples.[26]

R-M17/M198 (R1a1a)

The following SNPs are associated with R1a1a:

SNP Mutation Y-position (NCBI36) Y-position (GRCh37) RefSNP ID
M17 INS G 20192556 21733168 rs3908
M198 C->T 13540146 15030752 rs2020857
M512 C->T 14824547 16315153 rs17222146
M514 C->T 17884688 19375294 rs17315926
M515 T->A 12564623 14054623 rs17221601
L168 A->G 14711571 16202177 -
L449 C->T 21376144 22966756 -
L457 G->A 14946266 16436872 rs113195541
L566 C->T - - -

R-M417 (R1a1a1)

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)[2]) and Central and South Asia (R1a1a1b2 (R-Z93) ([R1a1a2*] (R-Z93) Underhill 2014)[2]).

R-Z282 (R1a1a1b1a) (Eastern Europe)

This large subclade appears to encompass most of the R1a1a found in Europe.[14]

  • R1a1a1b1a [R1a1a1a* (Underhill (2014))] (R-Z282*) occurs in northern Ukraine, Belarus, and Russia at a frequency of c. 20%.[2]
  • R1a1a1b1a3 [R1a1a1a1 (Underhill (2014))] (R-Z284) occurs in Northwest Europe and peaks at c. 20% in Norway.[2]
  • R1a1a1c (M64.2, M87, M204) is apparently rare: it was found in 1 of 117 males typed in southern Iran.[53]
R-M458 (R1a1a1b1a1)
Frequency distribution of R-M458

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." (Zhivotovsky speeds, 3x overvalued)[3] M458 was found in one skeleton from a 14th-century grave field in Usedom, Mecklenburg-Vorpommern, Germany.[54] The paper by Underhill et al. (2009) also reports a surprisingly high frequency of M458 in some Northern Caucasian populations (18% among Ak Nogai,[55] 7.8% among Qara Nogai and 3.4% among Abazas).[56]

R-L260 (R1a1a1b1a1a)

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 et al. 2002. In 2010 it was verified to be a haplogroup identified by its own mutation (SNP).[57] It apparently accounts for about 8% of Polish men, making it the most common subclade in Poland. Outside of Poland it is less common.[58] 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.[59]

R-M334

R-M334 ([R1a1a1g1],[47] a subclade of [R1a1a1g] (M458)[47] c.q. R1a1a1b1a1 (M458)[46]) was found by Underhill et al. (2009) only in one Estonian man and may define a very recently founded and small clade.[3]

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)[45][verification needed] is a STR based group that is R-M17(xM458). This cluster is common in Poland but not exclusive to Poland.[59]

R1a1a1b1a2b3a (R-L365)

R1a1a1b1a2b3a (R-L365)[46] was early called Cluster G.[citation needed]

R1a1a1b2 (R-Z93) (Asia)

Relative frequency of R-M434 to R-M17
Region People N R-M17 R-M434
Number Freq. (%) Number Freq. (%)
Pakistan Baloch 60 9 15% 5 8%
Pakistan Makrani 60 15 25% 4 7%
Middle East Oman 121 11 9% 3 2.5%
Pakistan
Sindhi
134 65 49% 2 1.5%
Table only shows positive sets from N = 3667 derived from 60 Eurasian populations sample.[3]

This large subclade appears to encompass most of the R1a1a found in Asia, being related to Indo-European migrations (including Scythians, Indo-Aryan migrations and so on).[14]

  • 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%).[2]
  • 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.[2]
    • R-M434 is a subclade of Z2125. It was detected in 14 people (out of 3667 people tested), all in a restricted geographical range from Pakistan to Oman. This likely reflects a recent mutation event in Pakistan.[3]
  • R-M560 is very rare and was only observed in four samples: two Burushaski speakers (north Pakistan), one Hazara (Afghanistan), and one Iranian Azerbaijani.[2]
  • R-M780 occurs at high frequency in South Asia: India, Pakistan, Afghanistan, and the Himalayas. Turkey share R1a (12.1%) sublineages.[60] Roma from Slovakia share 3% of R1a[61] The group also occurs at >3% in some Iranian populations and is present at >30% in Roma from Croatia and Hungary.[2]

Geographic distribution of R1a1a

Distribution of R1a (purple) and R1b (red)

Pre-Historical

In Mesolithic Europe, R1a is characteristic of

Fatyanovo culture belong entirely to R1a, specifically subclade R1a-Z93.[62][63][71]

Haplogroup R1a has later been found in ancient fossils associated with 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.[68]

Europe

In Europe, the R1a1 sub-clade is found at highest levels among peoples of Central and Eastern European descent, with results ranging from 35% to 65% among Czechs, Hungarians, Poles, Slovaks, western Ukrainians, Rusyns, Belarusians, Moldovans, and Russians.[78][79][12] In the Baltics, R1a1a frequencies decrease from Lithuania (45%) to Estonia (around 30%).[80][81][82][12][83]

There is a significant presence in peoples of

Vikings and Normans may have also carried the R1a1a lineage further out, accounting for at least part of the small presence in the British Isles, the Canary Islands, and Sicily.[86][87] In East Germany, Haplogroup R1a1a averages between 20 and 30%, with a peak in Rostock at 31.3%, it.[88]

In Southern Europe R1a1a is not common, but significant levels have been found in pockets, such as in the

Greek Macedonia, but less than 10% in Albania, Kosovo and parts of Greece south of Olympus gorge.[95][82][12]

R1a is virtually composed only of the Z284 subclade in

Eurasian steppe according to archaeological and toponymic references.[note 16]

Asia

Central Asia

Zerjal et al. (2002) found R1a1a in 64% of a sample of the Tajiks of Tajikistan and 63% of a sample of the Kyrgyz of Kyrgyzstan.[98]

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.[99]

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).[100]

Malyarchuk et al. (2013) found R1a1-SRY10831.2 in 30.0% (12/40) of a sample of Tajiks from Tajikistan.[101]

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.[102]

South Asia

In South Asia, R1a1a has often been observed in a number of demographic groups.[26][25]

In

Chenchu (26%) and the Valmikis of Andhra Pradesh, Kota (22.58%)[104] and the Kallar of Tamil Nadu suggesting that R1a1a is widespread in Tribal Southern Indians.[20]

Besides these, studies show high percentages in regionally diverse groups such as Manipuris (50%)[3] to the extreme North East and among Punjabis (47%)[20] to the extreme North West.

In

Mohanna tribe in Sindh province to the south and 46% among the Baltis of Gilgit-Baltistan to the north.[3] Among the Sinhalese of Sri Lanka, 23% were found to be R1a1a (R-SRY1532) positive.[105] Hindus of Chitwan District in the Terai region Nepal show it at 69%.[106]

East Asia

The frequency of R1a1a is comparatively low among some

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,

Tatars and 68.9% of Kyrgyz in Xinjiang in northwestern China tested in one sample had R1a1-M17. Bao'an (Bonan) had the most haplogroup diversity of 0.8946±0.0305 while the other ethnic minorities in northwestern China had a high haplogroup diversity like Central Asians, of 0.7602±0.0546.[112]

In Eastern

West Asia

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%.[114][115][116]

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 et al. 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

Sistan and Baluchestan Province.[117]

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).[100]

Kermanshah in western Iran.[101]

Further to the north of these Western Asian regions on the other hand, R1a1a levels start to increase in the

Karachay-Balkar language among whom about one quarter of men tested so far are in haplogroup R1a1a.[3]

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

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 et al. 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[citation needed] The discovery of M420 in 2009 has caused a reassignment of these phylogenetic names.(Underhill et al. 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.

Contrasting family trees for R1a, showing the evolution of understanding of this clade
2002 scheme proposed in (YCC 2002) 2009 scheme as per (Underhill et al. 2009) ISOGG tree as per January 2011[citation needed]
As M420 went undetected, M420 lineages were classified as either R1* or R1a (SRY1532.2, also known as SRY10831.2)
R1
 M173  
R1*

 All cases without M343 or SRY1532.2 (including a minority M420+ cases)

R1a
 SRY1532.2 
  (SRY10831.2)  

R1a* 

 
R1a1
 M17, M198 

 R1a1*

 M56 

 R1a1a

 M157 

 R1a1b

 M87, M204
M64.2

 
 R1a1c

R1b

M343

 sibling clade to R1a

After 2009, a new layer was inserted covering all old R1a, plus its closest known relatives
R1
 M173  
R1*

 All cases without M343 or M420 (smaller than old "R1a*")

R1a 
M420 

  R1a* All cases with M420 but without SRY1532.2

R1a1 
SRY1532.2 

  R1a1*(Old R1a*)

 R1a1a 
 M17, M198 

R1a1a*

M56
 

R1a1a1

M157
 

R1a1a2

 M64.2,..
 

R1a1a3

P98
 

R1a1a4

PK5
 

R1a1a5

M434
 

R1a1a6

 M458 
 

 R1a1a7*

 
M334 
 

 R1a1a7a

 Page68

R1a1a8

R1b

M343

 Sibling clade to R1a (same as before)

Latest information
R1
M173

R1* (As before)

R1a
M420

R1a* (As before)

R1a1
SRY1532.2

R1a1* (As before)

R1a1a
M17

R1a1a* (As before)

R1a1a1
M417, Page7

R1a1a1*

M56
 

R1a1a1a

M157
 

R1a1a1b

 M64.2,..
 

R1a1a1c

P98
 

R1a1a1d

PK5
 

R1a1a1e

M434
 

R1a1a1f

 Z283 
 

 R1a1a1g*

 M458 
 

 R1a1a1g1*

 
M334 
 

 R1a1a1g1a


L260 
 

 R1a1a1g1b

 Z280 
 

 R1a1a1g2*

 
P278.2 
 

 R1a1a1g2a


L365 
 

 R1a1a1g2b


L366 
 

 R1a1a1g2c


Z92 
 

 R1a1a1g2d

 Z284 
 

 R1a1a1g3*

 
P278.2 
 

 R1a1a1g3a

 Z93

 R1a1a1h*

 
L342.2 
 

 R1a1a1h1*

 
L657 
 

 R1a1a1h1a

R1b

M343

Sibling clade to R1a (same as before)

See also

Y-DNA R-M207 subclades

Y-DNA backbone tree

Notes

  1. ^ According to Family Tree,[who?] they diversified c. 5,000 years ago.[9]
  2. ^ See also: "'Heavily sex-biased' population dispersals into the Indian Subcontinent (Silva et al. 2017)". Eurogenes Blog. March 28, 2017.[self-published source?]
  3. ^ 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."[20]
  4. ^ 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.[28]
  5. ^ 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."[1]
  6. ^ for most of the history, the Indian subcontinent was the most populated region of the world
  7. ^ 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."[25]
  8. PMID 26567969
    .
  • ^ Yet, Haak et al. also explicitly state: "a type of Near Eastern ancestry different from that which was introduced by early farmers".[clarification needed][39]
  • ^ According to Family Tree DNA, L664 formed 4,700 ybp, that is, 2,700 BCE.[9]
  • ^ Lazaridis, Twitter, 18 June 2016: "I1635 (Armenia_EBA) is R1b1-M415(xM269). We'll be sure to include in the revision. Thanks to the person who noticed! #ILovePreprints."[unreliable source?]
    See also "Big deal of 2016: the territory of present-day Iran cannot be the Indo-European homeland". Eurogenes Blog. November 26, 2016,[unreliable source?] 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)[43]
  • Vedic society
    .
  • ^ Poznik et al. (2016) calculate with a generation time of 30 years; a generation time of 20 years yields other results.
  • 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. (2014), 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)."[44]
  • ^ Балановский (2015), p. 208 (in Russian) 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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    Sources

    Further reading

    journal articles

    External links

    DNA Tree
    TMRCA
    Various