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 genetic divergence of R1a (M420) is estimated to have occurred 25,000[2] years ago, which is the time of the last glacial maximum. A 2014 study by Peter A. Underhill et al., using 16,244 individuals from over 126 populations from across Eurasia, concluded that there was "a compelling case for the Middle East, possibly near present-day Iran, as the geographic origin of hg R1a".[2] The ancient DNA record has shown the first R1a during the Mesolithic in Eastern Hunter-Gatherers (from Eastern Europe, c. 13,000 years ago),[5][6] and the earliest case of R* among Upper PaleolithicAncient 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)
Semino et al. (2000) proposed Ukrainian origins, and a postglacial spread of the R1a1 haplogroup during the Late Glacial Maximum, subsequently magnified by the expansion of the Kurgan culture into Europe and eastward.[12] 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.[13] 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.[14]
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 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 BCECorded 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 Leo Klejn, the absence of haplogroup R1a in Yamnaya remains (despite its presence in Eneolithic Samara and 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]
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 India via Iran[40] and expanded there during the Indus Valley civilization.[2][41]
Mascarenhas et al. (2015) proposed that the roots of Z93 lie in West Asia, and proposed that "Z93 and L342.2 expanded in a southeasterly direction from 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]
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]
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 Norway, 3/305 in Sweden, 1/57 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]
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 Eastern Hunter-Gatherers (EHGs).[62] A male EHG of the Veretye culture buried at Peschanitsa near Lake Lacha in Arkhangelsk Oblast, Russia c. 10,700 BCE was found to be a carrier of the paternal haplogroup R1a5-YP1301 and the maternal haplogroup U4a.[63][64][62] A Mesolithic male from Karelia c. 8,800 BCE to 7950 BCE has been found to be carrying haplogroup R1a.[65] A Mesolithic male buried at Deriivka c. 7000 BCE to 6700 BCE carried the paternal haplogroup R1a and the maternal U5a2a.[17] Another male from Karelia from c. 5,500 to 5,000 BC, who was considered an EHG, carried haplogroup R1a.[15] A male from the Comb Ceramic culture in Kudruküla c. 5,900 BCE to 3,800 BCE has been determined to be a carrier of R1a and the maternal U2e1.[66] According to archaeologist David Anthony, the paternal R1a-Z93 was found at the Oskol river near a no longer existing kolkhoz "Alexandria", Ukraine c. 4000 BCE, "the earliest known sample to show the genetic adaptation to lactase persistence (13910-T)."[67] R1a has been found in the Corded Ware culture,[68][69] in which it is predominant.[70] Examined males of the Bronze Age 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 Urnfield culture;[72] as well as the burial of the remains of the Sintashta,[16]Andronovo,[73] the Pazyryk,[74]Tagar,[73]Tashtyk,[73] and Srubnaya cultures, the inhabitants of ancient Tanais,[75] in the Tarim mummies,[76] and the aristocracy of Xiongnu.[77] 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.[68]
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.[84][85]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]
R1a is virtually composed only of the Z284 subclade in Scandinavia. In Slovenia, the main subclade is Z282 (Z280 and M458), although the Z284 subclade was found in one sample of a Slovenian. There is a negligible representation of Z93 in Turkey, 12,1%[60][2]West Slavs and Hungarians are characterized by a high frequency of the subclade M458 and a low Z92, a subclade of Z280. Hundreds of Slovenian samples and Czechs lack the Z92 subclade of Z280, while Poles, Slovaks, Croats and Hungarians only show a very low frequency of Z92.[2] The Balts, East Slavs, Serbs, Macedonians, Bulgarians and Romanians demonstrate a ratio Z280>M458 and a high, up to a prevailing share of Z92.[2] Balts and East Slavs have the same subclades and similar frequencies in a more detailed phylogeny of the subclades.[96][97] 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 and West 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.[note 16]
Haber et al. (2012) found R1a1a-M17 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.[99]
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).[100]
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]
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.
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 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 County, Xinjiang (尉犁县喀尔曲尕乡). R1a(xZ93) was observed only in one of 76 Dolan Uyghurs.[109] Note that Darya Boyi Village is located in a remote oasis formed by the Keriya River in the Taklamakan Desert. A 2011 Y-DNA study found Y-dna R1a1 in 10% of a sample of southern Hui people from Yunnan, 1.6% of a sample of Tibetan people from Xizang (Tibet Autonomous Region), 1.6% of a sample of Xibe people from Xinjiang, 3.2% of a sample of northern Hui from Ningxia, 9.4% of a sample of Hazak (Kazakhs) from Xinjiang, and rates of 24.0%, 22.2%, 35.2%, 29.2% in 4 different samples of Uyghurs from Xinjiang, 9.1% in a sample of Mongols from Inner Mongolia. A different subclade of R1 was also found in 1.5% of a sample of northern Hui from Ningxia.[110] in the same study there were no cases of R1a detected at all in 6 samples of Han Chinese in Yunnan, 1 sample of Han in Guangxi, 5 samples of Han in Guizhou, 2 samples of Han in Guangdong, 2 samples of Han in Fujian, 2 samples of Han in Zhejiang, 1 sample of Han in Shanghai, 1 samples of Han in Jiangxi, 2 samples of Han in Hunan, 1 sample of Han in Hubei, 2 samples of Han in Sichuan, 1 sample of Han in Chongqing, 3 samples of Han in Shandong, 5 samples of Han in Gansu, 3 samples of Han in Jilin and 2 samples of Han in Heilongjiang.[111] 40% of Salars, 45.2% of Tajiks of Xinjiang, 54.3% of Dongxiang, 60.6% of 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]
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.
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]
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.[101]
Further to the north of these Western Asian 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.[3]
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 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
^Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91. doi:10.1002/humu.22468. PMID24166809. S2CID23291764.
^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
^ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a).
^K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.; YFull YTree v5.08, 2017, "K-M2335", and; PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
^ Haplogroup K2b1 (P397/P399) is also known as Haplogroup MS, but has a broader and more complex internal structure.
^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]
^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]
^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]
^for most of the history, the Indian subcontinent was the most populated region of the world
^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]
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^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]
^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]
^According to Family Tree DNA, M780 formed 4700 ybp.[9] 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. (2016) 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. (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.
^Narasimhan, Vagheesh M.; Patterson, Nick; Moorjani, Priya; Rohland, Nadin; Bernardos, Rebecca; Mallick, Swapan; Lazaridis, Iosif; Nakatsuka, Nathan; Olalde, Iñigo; Lipson, Mark; Kim, Alexander M. (September 6, 2019). "The formation of human populations in South and Central Asia". Science. 365 (6457): eaat7487. doi:10.1126/science.aat7487. PMC6822619. PMID31488661. Y chromosome haplogroup types R1b or R1a not represented in Iran and Turan in this period ...
^Zerjal, T.; et al. (1999). "The use of Y-chromosomal DNA variation to investigate population history: recent male spread in Asia and Europe". In Papiha, S. S.; Deka, R. & Chakraborty, R. (eds.). Genomic diversity: applications in human population genetics. New York: Kluwer Academic/Plenum Publishers. pp. 91–101. ISBN978-0-3064-6295-5.
^Sengupta S, Zhivotovsky LA, King R, Mehdi SQ, Edmonds CA, Chow CE, et al. (February 2006). "Polarity and temporality of high-resolution y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influence of Central Asian pastoralists". American Journal of Human Genetics. 78 (2): 202–221. doi:10.1086/499411. PMC1380230. PMID16400607."Although considerable cultural impact on social hierarchy and language in South Asia is attributable to the arrival of nomadic Central Asian pastoralists, genetic data (mitochondrial and Y chromosomal) have yielded dramatically conflicting inferences on the genetic origins of tribes and castes of South Asia. We sought to resolve this conflict, using high-resolution data on 69 informative Y-chromosome binary markers and 10 microsatellite markers from a large set of geographically, socially, and linguistically representative ethnic groups of South Asia. 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. R1a1 and R2 haplogroups indicate demographic complexity that is inconsistent with a recent single history.ASSOCIATED MICROSATELLITE ANALYSES OF THE HIGH-FREQUENCY R1A1 HAPLOGROUP CHROMOSOMES INDICATE INDEPENDENT RECENT HISTORIES OF THE INDUS VALLEY AND THE PENINSULAR INDIAN REGION."
^Lalueza-Fox, C. (2022). Inequality: A Genetic History. MIT Press. pp. 81–82. ISBN978-0-262-04678-7. Retrieved July 16, 2023. "Some years ago, local scientists supported the view that the existence of an R1a Y chromosome was not attributable to a foreign gene flow but instead that this lineage had emerged on the subcontinent and spread from there. But the phylogenetic reconstruction of this haplogroup did not support this view."
^Haber et al. 2012"R1a1a7-M458 was absent in Afghanistan, suggesting that R1a1a-M17 does not support, as previously thought [47], expansions from the Pontic Steppe [3], bringing the Indo-European languages to Central Asia and India."
^Klejn, Leo S. (April 22, 2017). "The Steppe Hypothesis of Indo-European Origins Remains to be Proven". Acta Archaeologica. 88 (1): 193–204. doi:10.1111/j.1600-0390.2017.12184.x. ISSN0065-101X. "As for the Y-chromosome, it was already noted in Haak, Lazaridis et al. (2015) that the Yamnaya from Samara had Y-chromosomes which belonged to R-M269 but did not belong to the clade common in Western Europe (p. 46 of supplement). Also, not a single R1a in Yamnaya unlike Corded Ware (R1a-dominated)."
^Freder, Janine (2010). Die mittelalterlichen Skelette von Usedom: Anthropologische Bearbeitung unter besonderer Berücksichtigung des ethnischen Hintergrundes [Anthropological investigation in due consideration of the ethnical background] (Thesis) (in German). Freie Universität Berlin. p. 86. doi:10.17169/refubium-8995.
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^M. Peričić; et al. (2005). "Review of Croatian Genetic Heritage as Revealed by Mitochondrial DNA and Y Chromosomal Lineages". Croatian Medical Journal. 46 (4): 502–513. PMID16100752.
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