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[[File:Distribution_Haplogroup_R1a_Y-DNA.svg|thumb|Distribution of Haplogroup R1a in Europe]]
[[File:Distribution_Haplogroup_R1a_Y-DNA.svg|thumb|Distribution of Haplogroup R1a in Europe]]
'''Haplogroup R1a''', or '''haplogroup R-M420''', is a [[Y DNA]] [[haplogroup]] which is distributed in a large region in [[Eurasia]], extending from [[South Asia]] and southern [[Siberia]] to [[Central Europe]] and [[Scandinavia]].{{sfn|Underhill|2009}}{{sfn|Underhill|2014}} The distribution of R1-Z282 (including R1-Z280){{sfn|Pamjav|2012}} in Central- and Eastern Europe and R1-Z93 in Asia{{sfn|Pamjav|2012}}{{sfn|Underhill|2014}} suggests that Ra diversified within the Eurasian Steppes or the Middle East and Caucasus region{{sfn|Pamjav|2012}} or "in the vicinity of present-day [[Iran]]."{{sfn|Underhill|2014}}
'''Haplogroup R1a''', or '''haplogroup R-M420''', is a [[Y DNA]] [[haplogroup]] which is distributed in a large region in [[Eurasia]], extending from [[South Asia]] and southern [[Siberia]] to [[Central Europe]] and [[Scandinavia]].{{sfn|Underhill|2009}}{{sfn|Underhill|2014}} The distribution of R1-Z282 (including R1-Z280){{sfn|Pamjav|2012}} in Central- and Eastern Europe and R1-Z93 in Asia{{sfn|Pamjav|2012}}{{sfn|Underhill|2014}} suggests that R1a diversified within the Eurasian Steppes or the Middle East and Caucasus region{{sfn|Pamjav|2012}} or "in the vicinity of [[Iran]] and [[Eastern Turkey]]" approximately 5800 years ago.{{sfn|Underhill|2014}}


The SNP mutation R-M420 was discovered after R-M17 (R1a1a1), 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.
The SNP mutation R-M420 was discovered after R-M17 (R1a1a1), 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.
Line 94: Line 94:
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.{{sfn|Underhill|2009}}{{sfn|ISOGG|2012}}
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.{{sfn|Underhill|2009}}{{sfn|ISOGG|2012}}


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 [[Iran]]ians, 1/164 in the [[United Arab Emirates]], and 3/612 in [[Turkey]]. Testing of 7224 more males in 73 other Eurasian populations showed no sign of this category.{{sfn|Underhill|2009}}
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 [[Iran]]ians, 1/164 in the [[United Arab Emirates]], and 3/612 in [[Turkey]]. Testing of 7224 more males in 73 other Eurasian populations showed no sign of this category.{{sfn|Underhill|2009}} A newer study by Underhill 2014 found the [[paragroup]] R-M420* again mostly in the Middle East: 5/38 [[Iranian Azeri|Azerbaijani Turks]] ([[Iran]]), 2/38 [[Turks]] and 1/13 in the [[United Arab Emirates]]. Of the 24 R1a-M420*(xSRY10831.2) chromosomes, 18 were sampled in [[Iran]] and 3 were from [[eastern Turkey]].<ref name="UnderhillPoznik2014">{{cite journal|author=Peter A. Underhill, et al |format=PDF |url=http://www.nature.com/ejhg/journal/v23/n1/pdf/ejhg201450a.pdf |title=The phylogenetic and geographic structure of Y-chromosome haplogroup R1a |journal=[[European Journal of Human Genetics]] |volume=23 |issue=1 |year=2014 |accessdate=15 June 2016 |pages=124–131 |issn=1018-4813 |doi=10.1038/ejhg.2014.50}}</ref>


===R-SRY1532.2 (R1a1)===
===R-SRY1532.2 (R1a1)===
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===R1a1a1 (RM-417)===
===R1a1a1 (R-M417)===
R1a1a1 (RM-417) is the most widely found subclade, in two variations which are found respectively in Europe (R1a1a1b1 (R-Z282) ([R1a1a1a*] (R-Z282) (Underhill 2014/2015){{sfn|Underhill|2015}}) and Central and South Asia (R1a1a1b2 (R-Z93) ([R1a1a2*] (R-Z93) Underhill 2014/2015){{sfn|Underhill|2015}}).
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){{sfn|Underhill|2015}}) and Central and South Asia (R1a1a1b2 (R-Z93) ([R1a1a2*] (R-Z93) Underhill 2014/2015){{sfn|Underhill|2015}}).


====R1a1a1b1a (R-Z282) (Eastern Europe)====
====R1a1a1b1a (R-Z282) (Eastern Europe)====

Revision as of 17:37, 6 November 2016

Haplogroup R1a
Possible time of origin22,000 YBP (Sharma 2009)
Possible place of originEurasia (see text).
AncestorHaplogroup R1
DescendantsHaplogroup R1a-Z282 (Europe), R1a-Z93 (Asia)
Defining mutationsR1a: 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
File:Distribution Haplogroup R1a Y-DNA.svg
Distribution of Haplogroup R1a in Europe

Haplogroup R1a, or haplogroup R-M420, is a Y DNA haplogroup which is distributed in a large region in Eurasia, extending from South Asia and southern Siberia to Central Europe and Scandinavia.[1][2] The distribution of R1-Z282 (including R1-Z280)[3] in Central- and Eastern Europe and R1-Z93 in Asia[3][2] suggests that R1a diversified within the Eurasian Steppes or the Middle East and Caucasus region[3] or "in the vicinity of Iran and Eastern Turkey" approximately 5800 years ago.[2]

The SNP mutation R-M420 was discovered after R-M17 (R1a1a1), 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

The modern distribution of R1a1a has two widely separated areas of high frequency: South Asia and Eastern Europe. Some researchers have claimed that South Asian populations had the highest STR diversity within R1a1a.[4][5][1][6][7][8][9][10] Other studies have proposed Eastern European, Central Asian and even West Asian origins for R1a1a.[1][11][4][12][13][12]

According to Pamjav et al. (2012), "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."[3] A large, 2014 study by Peter A Underhill et al., using 16,244 individuals from over 126 populations from across Eurasia, concluded there was compelling evidence, that "the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran."[14]

Phylogeny

File:R1a. Info-19.05.2014.jpg
R1a1a clades

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.)

Topology

The topology of R1a is as follows (codes [in brackets] non-isogg codes):[15][16][17][18][19]

  • R (R-M207)[15][16]
    • R*
    • R1 (R-M173)
      • R1*[15]
      • R1a (M420)[15] (Eastern Europe, Asia)[18]
        • R1a*[16]
        • R1a1[15] (M459/PF6235,[15] SRY1532.2/SRY10831.2[15])
          • R1a1 (M459)[15][16]
          • R1a1a (M17, M198)[15]
            • R1a1a1 (M417, page7)[15]
              • R1a1a1a (CTS7083/L664/S298)[15]
              • R1a1a1b (S224/Z645, S441/Z647)[15]
                • R1a1a1b1 (PF6217/S339/Z283)[15]
                  • R1a1a1b1a (Z282)[15] [R1a1a1a*] (Z282) (Eastern Europe)[20]
                    • R1a1a1b1a1[15] [The old topological code is R1a1a1b*，which is outdated and might lead to some confusion.][20] (M458)[15][20] [R1a1a1g] (M458)[19]
                    • R1a1a1b1a2[15] (S466/Z280, S204/Z91)[15]
                      • R1a1a1b1a2a[15]
                      • R1a1a1b1a2b (CTS1211)[15] [R1a1a1c*] (M558)[20] [R-CTS1211] (V2803/CTS3607/S3363/M558, CTS1211/S3357, Y34/FGC36457)[16]
                        • R1a1a1b1a2b3* (M417+, Z645+, Z283+, Z282+, Z280+, CTS1211+, CTS3402, Y33+, CTS3318+, Y2613+) (Gwozdz's Cluster K)[17]
                        • R1a1a1b1a2b3a (L365/S468)[15]
                    • R1a1a1b1a3 (Z284)[15] [R1a1a1a1] (Z284)[20]
                • R1a1a1b2 (F992/S202/Z93)[15] [R1a1a2*] (Z93, M746)(Asia)[20]
                  • R1a1a1b2a (F3105/S340/Z94, L342.2/S278.2)[15] [R1a1b2a*] (Z95)[20] R-Z94 (Z94/F3105/S340, Z95/F3568)[16]
                    • R-Z2124 (Z2121/S3410, Z2124)[16]
                      • [R1a1b2a*] (Z2125)[20]
                        • [R1a1b2a*] (M434)[20] [R1a1a1f] (M434)[19]
                        • [R1a1b2a*] (M204)[20]
                    • [R1a1b2a1*] (M560)[20]
                    • [R1a1b2a2*] (M780, L657)[20]
                    • [R1a1b2a3*] (Z2122, M582)[20]
              • [R1a1a1c] (M64.2, M87, M204)[19]
              • [R1a1a1d] (P98)[19]
              • [R1a1a1e] (PK5)[19]
      • R1b (M343) (Western Europe)
    • R2

Haplogroup R

Haplogroup R phylogeny
 
R <br /> (M207)   
 R1 <br />  (M173)   
  M420 

 R1a

  M343 

 R1b

 M173(xM420,M343) 

 R1*

R2 (M479)    

R* M207(xM173,M479)

R-M173 (R1)

R1a, distinguished by several unique markers including the M420 mutation, 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.[1][22]

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.[1] A newer study by Underhill 2014 found the paragroup R-M420* again mostly in the Middle East: 5/38 Azerbaijani Turks (Iran), 2/38 Turks and 1/13 in the United Arab Emirates. Of the 24 R1a-M420*(xSRY10831.2) chromosomes, 18 were sampled in Iran and 3 were from eastern Turkey.[14]

R-SRY1532.2 (R1a1)

R1a1 is defined by SRY1532.2 or SRY10831.2), understood to always include SRY10831.2, M448, L122, M459, and M516.[1][23]) 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.[1] Sahoo et al. (2006) reported R-SRY1532.2* for 1/15 Himachal Pradesh Rajput samples.[7]

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 - - -

R1a1a1 (R-M417)

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)[18]) and Central and South Asia (R1a1a1b2 (R-Z93) ([R1a1a2*] (R-Z93) Underhill 2014/2015)[18]).

R1a1a1b1a (R-Z282) (Eastern Europe)

This large subclade appears to encompass most of the R1a1a found in Europe.[24]

  • 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.[11]
R1a1a1b1a1 (R-M458)
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."[25] M458 was found in one skeleton from a 14th-century grave field in Usedom, Mecklenburg-Vorpommern, Germany.[26] 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).

R1a1a1b1a1a (R-L260) (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).[27] 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."[28] 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.[29]

R-M334

R-M334 ([R1a1a1g1],[19] a subclade of [R1a1a1g] (M458)[19] c.q. R1a1a1b1a1 (M458)[15]) was found by Underhill et al. (2009) only in one Estonian man and may define a very recently founded and small clade.[1]

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)[17] is a STR based group that is R-M17(xM458). This cluster is common in Poland but not exclusive to Poland.[29]

R1a1a1b1a2b3a (R-L365)

R1a1a1b1a2b3a (R-L365)[15] was early called Cluster G.[citation needed]

R1a1a1b2 (R-Z93) (Asia)

This large subclade appears to encompass most of the R1a1a found in Asia.[24]

  • R1a1a1b2 [R1a1a2* (Underhill (2014))] (R-Z93) is most common (>30%) in the South Siberian Altai region of Russia, cropping up in Kyrgyzstan (6%) and in all Iranian populations (1–8%).[30]
  • R1a1a1b2a* (R-Z2125): This subgroup 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.[30]
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%
Table only shows positive sets from N = 3667 derived from 60 Eurasian populations sample.[1]
    • 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 (Underhill 2009).
  • R1a1b2a1* (R-M560 is very rare and was only observed in four samples: two Burushaski speakers (north Pakistan), one Hazara (Afghanistan), and one Iranian Azerbaijani.[30]
  • R1a1b2a2* (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.[30]

Geographic distribution of R1a1a

Coalescent time estimates for R-M17(xM458) STR from (Underhill 2009)
Location TD
W. India 15,800
Pakistan 15,000
Nepal 14,200
India 14,000
Oman 12,500
N. India 12,400
S. India 12,400
Caucasus 12,200
E. India 11,800
Poland 11,300
Slovakia 11,200
Crete 11,200
Germany 9,900
Denmark 9,700
UAE 9,700

Asia

Central Asia

In Afghanistan, R1a1a is found at 51% among the Pashtuns who are the largest ethnic group in Afghanistan, 50% among the Kyrgyz, and 30% among the Tajiks. It is less frequent among the Hazaras (7%) and the Turkic-speaking Uzbeks (18%) (Haber 2012).

South Asia

In South Asia, R1a1a has often been observed with high frequency in a number of demographic groups. (Sahoo 2006 and Sengupta 2005)

In India, high frequencies of this haplogroup is observed in West Bengal Brahmins (72%)(Sengupta 2005) to the east, Konkanastha Brahmins (48%) (Sengupta 2005) to the west, Khatris (67%)(Underhill 2009) in the north and Iyenger Brahmins (31%)(Sengupta 2005) 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 and the Kallar of Tamil Nadu suggesting that R1a1a is widespread in Tribal Southern Indians (Kivisild 2003).

Besides these, studies show high percentages in regionally diverse groups such as Manipuris (50%)(Underhill 2009) to the extreme North East and in Punjab (47%)(Kivisild 2003) to the extreme North West.

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 (Underhill 2009). Among the Sinhalese of Sri Lanka, 23% were found to be R1a1a (R-SRY1532) positive in a sample size of 87 subjects.[31] Hindus of Terai region of Nepal show it at 69% (Fornarino 2009).

East Asia

The frequency of R1a1a is comparatively low among some Turkic-speaking groups including Turks, Azeris, Kazakhs, and 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.(Wells 2001, Wang 2003, and Zhou 2007)

In Eastern Siberia, R1a1a is found among certain indigenous ethnic groups including Kamchatkans and Chukotkans, and peaking in Itel'man at 22% (Lell 2002).

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, Turkey and Iran. The Shimar (Shammar) Bedouin tribe in Kuwait show the highest frequency in the Middle East at 43%.(Mohammad 2009,Nasidze 2004, and Nasidze 2005)

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 (Grugni 2012).

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 (Underhill 2009).

Europe

File:Haplogroups europe.png
R1a among other European haplogroups
R1a and R1b frequencies
R1a among other European haplogroups

In Europe, the R1a1 sub-clade, is found at highest levels among peoples of Eastern European descent (Sorbs, Poles, Russians and Ukrainians; 50 to 65%) (Balanovsky 2008, Behar 2003, and Semino 2000). In the Baltic countries R1a1a frequencies decrease from Lithuania (45%) to Estonia (around 30%) (Kasperaviciūte 2005). Levels in Hungarians have been noted between 20 and 60% (Battaglia 2008, Rosser 2000, Semino 2000, and Tambets 2004).

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 (Bowden 2008 and (Dupuy 2005)). Vikings and Normans may have also carried the R1a1a lineage westward; accounting for at least part of the small presence in the British Isles (Passarino 2002 and Capelli 2003). In East Germany, where Haplogroup R1a1a reaches a peak frequency in Rostock at a percentage of 31.3%, it averages between 20%-30% (Kayser 2005).

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%). (Behar 2003).

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 (Scozzari 2001). The Balkans shows lower frequencies, and significant variation between areas, for example >30% in Slovenia, Croatia and Greek Macedonia, but <10% in Albania, Kosovo and parts of Greece (Pericić 2005, Rosser 2000, and Semino 2000).

The remains of a father and his two sons, from an archaeological site discovered in 2005 near Eulau (in Saxony-Anhalt, Germany) and dated to about 2600 BCE, tested positive for the Y-SNP marker SRY10831.2. The 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 (Haak 2008).

R1a and the Indo-Europeans

R1a origins (Underhill 2010)[32] and R1a1a oldest expansion and highest frequency (2014)
See also: Indo-European migrations § Proto-Indo-Europeans, Indo-European migrations, and Indo-Aryan migration theory

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 western Asia and eastern Europe, being most prevalent in Poland, Russia, and Ukraine and also observed in Pakistan, India and central Asia. The connection between Y-DNA R-M17 and the spread of Indo-European languages was first noted by T. Zerjal and colleagues in 1999.[33] Ornella Semino and colleagues proposed 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.[34] Spencer Wells suggests 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.[35]

Europe

Haplogroup R1a has been found in the remains of people of the Corded Ware culture[36][37] and Urnfield culture;[38][unreliable source?] as well as the burial of the remains of the Andronovo culture,[39] the Pazyryk culture,[40] Tagar culture[39] and Tashtyk culture,[39] the inhabitants of ancient Tanais,[41] in the Tarim mummies,[42] the aristocracy Xiongnu.[43]

South Asia

According to Underhill et al. (2014/2015) the diversification of Z93 and the "early urbanization within the Indus Valley also occurred at [5,600 years ago] and the geographic distribution of R1a-M780 (Figure 3d) may reflect this."[2] 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."[44]

Mascarenhas et al. (2015) note that the expansion of Z93 from Transcaucasia into South Asia 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."[45]

According to Lazaridis et al. (2016), "farmers related to those from Iran spread northward into the Eurasian steppe; and people related to both the early farmers of Iran and to the pastoralists of the Eurasian steppe spread eastward into South Asia."[46] They further note that ANI "can be modelled as a mix of ancestry related to both early farmers of western Iran and to people of the Bronze Age Eurasian steppe."[46][note 1]

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"

Further information: Conversion table for Y chromosome haplogroups

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[citation needed] 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.

Contrasting family trees for R1a, showing the evolution of understanding of this clade
2002 Scheme proposed in (YCC 2002) 2009 Scheme as per (2009) Latest ISOGG tree as per January 2011
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)

M420

R1a* (As before)

SRY1532.2

R1a1* (As before)

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

3

Y-DNA R-M207 subclades

3

Y-DNA backbone tree

In art

Artem Lukichev created an animation based on the Bashkir epic about the Ural, which outlined the history of the clusters of haplogroup R1: R1a and R1b.[47]

Notes

  1. ^ See also eurogenes.blogspot, The genetic structure of the world's first farmers (Lazaridis et al. preprint) .

References

  1. ^ a b c d e f g h i Underhill 2009.
  2. ^ a b c d Underhill 2014.
  3. ^ a b c d Pamjav 2012.
  4. ^ a b Kivisild 2003.
  5. ^ Mirabal 2009.
  6. ^ Sengupta 2005.
  7. ^ a b Sahoo 2006.
  8. ^ Sharma 2009.
  9. ^ Thangaraj 2010.
  10. ^ Sharma (2012).
  11. ^ a b Regueiro 2006.
  12. ^ a b Semino 2000.
  13. ^ Zhao 2009.
  14. ^ a b Peter A. Underhill; et al. (2014). "The phylogenetic and geographic structure of Y-chromosome haplogroup R1a" (PDF). European Journal of Human Genetics. 23 (1): 124–131. doi:10.1038/ejhg.2014.50. ISSN 1018-4813. Retrieved 15 June 2016. {{cite journal}}: Explicit use of et al. in: |author= (help)
  15. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ISOGG, Y-DNA Haplogroup R and its Subclades - 2016
  16. ^ a b c d e f g yfull.com, R1a tree
  17. ^ a b c familytreedna.com, R1a-project
  18. ^ a b c d Underhill 2015.
  19. ^ a b c d e f g h i j k snpedia, Haplogroup R (Y-DNA)
  20. ^ a b c d e f g h i j k l m Underhill 2015, p. 125.
  21. ^ eurogenes.blogspot, R1a in Yamnaya
  22. ^ ISOGG 2012.
  23. ^ Krahn 2012.
  24. ^ a b (Pamjav 2012).
  25. ^ Underhill 2010.
  26. ^ J. Freder, Die mittelalterlichen Skelette von Usedom [The mediaeval skeletons of Usedom], Berlin 2010, p. 86 (Dissertation Free University Berlin 2010).
  27. ^ Peter Gwozdw. M458, L260, CTS11962
  28. ^ Haplogroup R1a (Y-DNA)
  29. ^ a b Gwozdz 2009.
  30. ^ a b c d Underhill et al. 2014
  31. ^ Kivisild 2003a.
  32. ^ Underhill (2010), R1a1a-distribution
  33. ^ T. Zerjal et al, The use of Y-chromosomal DNA variation to investigate population history: recent male spread in Asia and Europe, in S.S. Papiha, R. Deka and R. Chakraborty (eds.), Genomic diversity: applications in human population genetics (1999), pp. 91–101.
  34. ^ Ornella Semino, Giuseppe Passarino, Peter J. Oefner, Alice A. Lin, Svetlana Arbuzova, Lars E. Beckman, Giovanna De Benedictis, Paolo Francalacci, Anastasia Kouvatsi, Svetlana Limborska, Mladen Marciki, Anna Mika, Barbara Mika, Dragan Primorac, A. Silvana Santachiara-Benerecetti, L. Luca Cavalli-Sforza, Peter A. Underhill, The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective, Science, vol. 290 (10 November 2000), pp. 1155-1159.
  35. ^ R.S. Wells et al, The Eurasian Heartland: A continental perspective on Y-chromosome diversity, Proceedings of the National Academy of Sciences of the USA, vol. 98 no.18 (2001), pp. 10244-10249.
  36. ^ Haak, Wolfgang; Brandt, Guido; Jong, Hylke N. de; Meyer, Christian; Ganslmeier, Robert; Heyd, Volker; Hawkesworth, Chris; Pike, Alistair W. G.; Meller, Harald; Alt, Kurt W. (25 November 2008). "Ancient DNA, Strontium isotopes, and osteological analyses shed light on social and kinship organization of the Later Stone Age". PNAS. 105 (47): 18226–18231. doi:10.1073/pnas.0807592105. PMC 2587582. PMID 19015520. Retrieved 15 June 2016 – via www.pnas.org.
  37. ^ Brandit, G (2013). "Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity". Science. 342 (6155): 257–261. doi:10.1126/science.1241844. PMC 4039305. PMID 24115443.
  38. ^ Schweitzer, D. (23 March 2008). "Lichtenstein Cave Data Analysis" (PDF). dirkschweitzer.net. Archived from the original (PDF) on 14 August 2011. {{cite web}}: Unknown parameter |deadurl= ignored (|url-status= suggested) (help)
  39. ^ a b c Keyser, Christine; Bouakaze, Caroline; Crubézy, Eric; Nikolaev, Valery G.; Montagnon, Daniel; Reis, Tatiana; Ludes, Bertrand (2009). "Ancient DNA provides new insights into the history of south Siberian Kurgan people". Human Genetics. 126 (3): 395–410. doi:10.1007/s00439-009-0683-0. ISSN 0340-6717.
  40. ^ Ricaut, F.; et al. (2004). "Genetic Analysis of a Scytho-Siberian Skeleton and Its Implications for Ancient Central Asian Migrations". Human Biology. 76: 1.
  41. ^ Корниенко И. В., Водолажский Д. И. Использование нерекомбинантных маркеров Y-хромосомы в исследованиях древних популяций (на примере поселения Танаис)//Материалы Донских антропологических чтений. Ростов-на-Дону, Ростовский научно-исследовательский онкологический институт, Ростов-на-Дону, 2013.
  42. ^ Chunxiang, Li; et al. (2010). "Evidence that a West-East admixed population lived in the Tarim Basin as early as the early Bronze Age" (PDF). BMC Biology. 8 (1): 15. doi:10.1186/1741-7007-8-15. ISSN 1741-7007. Archived from the original (PDF) on 27 April 2011. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |deadurl= ignored (|url-status= suggested) (help)CS1 maint: unflagged free DOI (link)
  43. ^ Kim, Kijeong; Brenner, Charles H.; Mair, Victor H.; Lee, Kwang-Ho; Kim, Jae-Hyun; Gelegdorj, Eregzen; Batbold, Natsag; Song, Yi-Chung; Yun, Hyeung-Won; Chang, Eun-Jeong; Lkhagvasuren, Gavaachimed; Bazarragchaa, Munkhtsetseg; Park, Ae-Ja; Lim, Inja; Hong, Yun-Pyo; Kim, Wonyong; Chung, Sang-In; Kim, Dae-Jin; Chung, Yoon-Hee; Kim, Sung-Su; Lee, Won-Bok; Kim, Kyung-Yong (2010). "A western Eurasian male is found in 2000-year-old elite Xiongnu cemetery in Northeast Mongolia". American Journal of Physical Anthropology. 142 (3): 429–440. doi:10.1002/ajpa.21242. ISSN 0002-9483. PMID 20091844.
  44. ^ Pozink 2016, p. 5.
  45. ^ Mascarenhas 2015, p. 9.
  46. ^ a b Lazaridis et al. 2016.
  47. ^ Lukichev, Artem (5 August 2014). "About R1a and R1b from Ural epic story". Retrieved 15 June 2016 – via YouTube.

Sources

Further reading

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