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In 2009, DNA extracted from the femur bones of 6 skeletons in an early-medieval burial place in [[Ergolding]] (Bavaria, Germany) dated to around c. 670 yielded the following results: 4 were found to be haplogroup R1b with the closest matches in modern populations of Germany, Ireland and the USA while 2 were in [[Haplogroup G (Y-DNA)#G2a|Haplogroup G2a]].<ref>{{Cite journal|doi=10.3325/cmj.2009.50.286|last=Vanek|first=Daniel|author2=Saskovat and Koch|title=Kinship and Y-Chromosome Analysis of 7th Century Human Remains: Novel DNA Extraction and Typing Procedure for Ancient Material|journal=Croatian Medical Journal|date=June 2009|volume=50|issue=3|series=3|pages=286–295|pmid=19480023|pmc=2702742}}</ref>
In 2009, DNA extracted from the femur bones of 6 skeletons in an early-medieval burial place in [[Ergolding]] (Bavaria, Germany) dated to around c. 670 yielded the following results: 4 were found to be haplogroup R1b with the closest matches in modern populations of Germany, Ireland and the USA while 2 were in [[Haplogroup G (Y-DNA)#G2a|Haplogroup G2a]].<ref>{{Cite journal|doi=10.3325/cmj.2009.50.286|last=Vanek|first=Daniel|author2=Saskovat and Koch|title=Kinship and Y-Chromosome Analysis of 7th Century Human Remains: Novel DNA Extraction and Typing Procedure for Ancient Material|journal=Croatian Medical Journal|date=June 2009|volume=50|issue=3|series=3|pages=286–295|pmid=19480023|pmc=2702742}}</ref>


Population studies which test for M269 have become more common in recent years, while in earlier studies men in this haplogroup are only visible in the data by extrapolation of what is likely. The following gives a summary of most of the studies which specifically tested for M269, showing its distribution (as a percentage of total population) in Europe, [[North Africa]], the [[Middle East]] and Central Asia as far as [[China]] and [[Nepal]].
Population studies which test for M269 have become more common in recent years, while in earlier studies men in this haplogroup are only visible in the data by extrapolation of what is likely. The following gives a summary of most of the studies which specifically tested for M269, showing its distribution (as a percentage of total population) in Europe, [[North Africa]], the [[Middle East]] and Central Asia as far as [[China]] and [[Nepal]].
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
Line 193: Line 193:
| Iraq||National||139||10.8%||Al-Zahery et al. (2003)<ref>{{Cite journal|pmid=12927131 |quote=16/139 |year=2003 |last1=Al-Zahery |first1=N |last2=Semino |last3=Benuzzi |last4=Magri |last5=Passarino |last6=Torroni |last7=Santachiara-Benerecetti |title=Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations |volume=28 |issue=3 |pages=458–72 |journal=Molecular Phylogenetics & Evolution |doi=10.1016/S1055-7903(03)00039-3 |first2=O |first3=G |first4=C |first5=G |first6=A |first7=AS|url=https://www.familytreedna.com/pdf/Al_Zahery.pdf}}</ref>
| Iraq||National||139||10.8%||Al-Zahery et al. (2003)<ref>{{Cite journal|pmid=12927131 |quote=16/139 |year=2003 |last1=Al-Zahery |first1=N |last2=Semino |last3=Benuzzi |last4=Magri |last5=Passarino |last6=Torroni |last7=Santachiara-Benerecetti |title=Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations |volume=28 |issue=3 |pages=458–72 |journal=Molecular Phylogenetics & Evolution |doi=10.1016/S1055-7903(03)00039-3 |first2=O |first3=G |first4=C |first5=G |first6=A |first7=AS|url=https://www.familytreedna.com/pdf/Al_Zahery.pdf}}</ref>
|-
|-
| Nepal||[[Newar]]||66||10.60%||Gayden et al. (2007)<ref name = "Gayden2007"/>
| Nepal||[[Newar]]||66||10.6%||Gayden et al. (2007)<ref name = "Gayden2007"/>
|-
|-
| Bulgaria||National||808||10.5%||Karachanak et al. (2013)<ref name="Karachanak2013">{{cite journal |vauthors=Karachanak S, Grugni V, Fornarino S, etal |title=Y-chromosome diversity in modern Bulgarians: new clues about their ancestry |journal=PLoS ONE |volume=8 |issue=3 |pages=e56779 |year=2013 |pmid=23483890 |pmc=3590186 |doi=10.1371/journal.pone.0056779}}</ref>
| Bulgaria||National||808||10.5%||Karachanak et al. (2013)<ref name="Karachanak2013">{{cite journal |vauthors=Karachanak S, Grugni V, Fornarino S, etal |title=Y-chromosome diversity in modern Bulgarians: new clues about their ancestry |journal=PLoS ONE |volume=8 |issue=3 |pages=e56779 |year=2013 |pmid=23483890 |pmc=3590186 |doi=10.1371/journal.pone.0056779}}</ref>
Line 200: Line 200:
|-
|-
| Lebanon||National||914||7.3%|| Zalloua et al. (2008)<ref name = "ZallouaLebanon">{{Cite journal|pmid=18374297 |pmc=2427286 |doi=10.1016/j.ajhg.2008.01.020 |year=2008 |last1=Zalloua |first1=PA |last2=Xue |last3=Khalife |last4=Makhoul |last5=Debiane |last6=Platt |last7=Royyuru |last8=Herrera |last9=Hernanz |title=Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events |volume=82 |issue=4 |pages=873–82 |journal=American Journal of Human Genetics |first2=Y |first3=J |first4=N |first5=L |first6=DE |first7=AK |first8=RJ |first9=DF|last10=Blue-Smith |first10=Jason |last11=Wells |first11=R. Spencer |last12=Comas |first12=David |last13=Bertranpetit |first13=Jaume |last14=Tyler-Smith |first14=Chris |display-authors=9 }}</ref>
| Lebanon||National||914||7.3%|| Zalloua et al. (2008)<ref name = "ZallouaLebanon">{{Cite journal|pmid=18374297 |pmc=2427286 |doi=10.1016/j.ajhg.2008.01.020 |year=2008 |last1=Zalloua |first1=PA |last2=Xue |last3=Khalife |last4=Makhoul |last5=Debiane |last6=Platt |last7=Royyuru |last8=Herrera |last9=Hernanz |title=Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events |volume=82 |issue=4 |pages=873–82 |journal=American Journal of Human Genetics |first2=Y |first3=J |first4=N |first5=L |first6=DE |first7=AK |first8=RJ |first9=DF|last10=Blue-Smith |first10=Jason |last11=Wells |first11=R. Spencer |last12=Comas |first12=David |last13=Bertranpetit |first13=Jaume |last14=Tyler-Smith |first14=Chris |display-authors=9 }}</ref>
|-
|Tunisia
|National
|601
|0.3%
|Bekada et al. (2013)<ref name=":0">{{Cite journal|last=Bekada|first=Asmahan|last2=Fregel|first2=Rosa|last3=Cabrera|first3=Vicente M.|last4=Larruga|first4=José M.|last5=Pestano|first5=José|last6=Benhamamouch|first6=Soraya|last7=González|first7=Ana M.|date=2013-02-19|title=Introducing the Algerian Mitochondrial DNA and Y-Chromosome Profiles into the North African Landscape|url=http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0056775|journal=PLOS ONE|language=en|volume=8|issue=2|pages=e56775|doi=10.1371/journal.pone.0056775|issn=1932-6203|pmc=PMC3576335|pmid=23431392}}</ref>
|-
|-
| Tunisia||[[Tunis]]||139||7.2%||Adams et al. (2008)<ref name=Adams2008/>
| Tunisia||[[Tunis]]||139||7.2%||Adams et al. (2008)<ref name=Adams2008/>
|-
|Morocco
|National
|760
|3.5%
|Bekada et al. (2013)<ref name=":0" />
|-
|Lybia
|National
|83
|0.0%
|Bekada et al. (2013)<ref name=":0" />
|-
|Egypt
|National
|360
|2.9%
|Bekada et al. (2013)<ref name=":0" />
|-
|Algeria
|National
|156
|7.0%
|Bekada et al. (2013)<ref name=":0" />
|-
|-
| Algeria||[[Algiers]], [[Tizi Ouzou]]||46||6.5%||Adams et al. (2008)<ref name=Adams2008/>
| Algeria||[[Algiers]], [[Tizi Ouzou]]||46||6.5%||Adams et al. (2008)<ref name=Adams2008/>

Revision as of 17:57, 28 August 2018

Haplogroup R-M269
Projected spatial frequency distribution for haplogroup R-M269 in Europe.[1]
Possible time of origin4,500–9,000 BP[2]
Possible place of originNeolithic Europe
AncestorR1b1a1 (R-L388)
DescendantsL23; L51/M412, L151/P310; Z2103
Defining mutationsM269

Haplogroup R-M269, also known as R1b1a1a2, is a sub-clade of human Y-chromosome haplogroup R1b. It is of particular interest for the genetic history of Western Europe. It is defined by the presence of SNP marker M269. R-M269 has been the subject of intensive research; it was previously also known as R1b1a2 (2003 to 2005), R1b1c (2005 to 2008), and R1b1b2 (2008 to 2011)[3]

R-M269 is the most common European haplogroup, greatly increasing in frequency on an east to west gradient (its prevalence in Poland estimated at 22.7%, compared to Wales at 92.3%). It is carried by approximately 110 million European men (2010 estimate).[4] The age of the mutation M269 is estimated at roughly 4,000 to 10,000 years ago, and its sub-clades can be used to trace the Neolithic expansion into Europe as well founder-effects within European populations due to later (Bronze Age and Iron Age) migrations.[4]

R-M269 has received significant scientific and popular interest due to its possible connection to the Indo-European expansion in Europe.[5]

Origin

An understanding of the origin of R-M269 is relevant for the question of population replacement in the Neolithic Revolution. R-M269 had formerly been dated to the Upper Paleolithic,[6] but by about 2010 it had become clear that it arose near the beginning of the Neolithic Revolution, about 10,000 years ago.[7][8][9] The R-L23 (R-Z2103) subclade has been found to be prevalent in ancient DNA associated with the Yamna culture.[10] David Anthony considers the Yamna culture to be the Indo-European Urheimat.[11]

No clear consensus has been achieved as to whether it arose within Europe or in Western Asia. Balaresque et al. (2010) based on the pattern of Y-STR diversity argued for a single source in the Near East and introduction to Europe via Anatolia in the Neolithic Revolution. In this scenario, Mesolithic hunter-gatherers in Europe would have been nearly replaced by the incoming farmers. By contrast, Busby et al. (2012) could not confirm the results of Balaresque et al. (2010) and could not make credible estimates of the age of R-M269 based on Y-STR diversity.[12]

By contrast, the subclade R-P311 appears to have originated after the beginning of the Neolithic Revolution in Europe, and is substantially confined to Western Europe in modern populations. R-P311 is absent from Neolithic-era ancient DNA found in Western Europe, strongly suggesting that its current distribution is due to population movements within Europe taking place after the end of the Neolithic. The three major subclades of P311 are U106 (S21), L21 (M529, S145), and U152 (S28). These show a clear articulation within Western Europe, with centers in the Low Countries, the British Isles and the Alps, respectively.[13]

Distribution

European R1b is dominated by R-M269. It has been found at generally low frequencies throughout central Eurasia,[14] but with relatively high frequency among the Bashkirs of the Perm region (84.0%) and Baymaksky District (81.0%).[15] This marker is present in China and India at frequencies of less than one percent. The table below lists in more detail the frequencies of M269 in regions in Asia, Europe, and Africa.

The frequency is about 92% in Wales, 82% in Ireland, 70% in Scotland, 68% in Spain, 60% in France (76% in Normandy), about 60% in Portugal, 53% in Italy,[16] 45% in Eastern England, 50% in Germany, 50% in the Netherlands, 42% in Iceland, and 43% in Denmark. It is as high as 95% in parts of Ireland. It is also found in some areas of North Africa, where its frequency peaks at 10% in some parts of Algeria.[17] M269 has likewise been observed among 8% of the Herero in Namibia.[18] The R-M269 subclade has been found in ancient Guanche (Bimbapes) fossils excavated in Punta Azul, El Hierro, Canary Islands, which are dated to the 10th century (~44%).[19]

M269* (xL23) is found at highest frequency in the central Balkans notably Kosovo with 7.9%, Macedonia 5.1% and Serbia 4.4%.[16] Kosovo is notable in having a high percentage of descendant L23* or L23(xM412) at 11.4% unlike most other areas with significant percentages of M269* and L23* except for Poland with 2.4% and 9.5% and the Bashkirs of southeast Bashkortostan with 2.4% and 32.2% respectively.[16] Notably this Bashkir population also has a high percentage of M269 sister branch M73 at 23.4%.[16] Five individuals out of 110 tested in the Ararat Valley, Armenia belonged to R1b1a2* and 36 to L23*, with none belonging to known subclades of L23.[20]

Trofimova et al. (2015) found a surprising high frequency of R1b-L23 (Z2105/2103) among the peoples of the Idel-Ural. 21 out of 58 (36.2%) of Burzyansky District Bashkirs, 11 out of 52 (21.2%) of Udmurts, 4 out of 50 (8%) of Komi, 4 out of 59 (6.8%) of Mordvins, 2 out of 53 (3.8%) of Besermyan and 1 out of 43 (2.3%) of Chuvash were R1b-L23 (Z2105/2103),[21] the type of R1b found in the recently analyzed Yamna remains of the Samara Oblast and Orenburg Oblast.[10]

Especially Western European R1b is dominated by specific sub-clades of R-M269 (with some small amounts of other types found in areas such as Sardinia[16][22]). Within Europe, R-M269 is dominated by R-M412, also known as R-L51, which according to Myres et al. (2010) is "virtually absent in the Near East, the Caucasus and West Asia." This Western European population is further divided between R-P312/S116 and R-U106/S21, which appear to spread from the western and eastern Rhine river basin respectively. Myres et al. note further that concerning its closest relatives, in R-L23*, it is "instructive" that these are often more than 10% of the population in the Caucasus, Turkey, and some southeast European and circum-Uralic populations. In Western Europe it is present but in generally much lower levels apart from "an instance of 27% in Switzerland's Upper Rhone Valley."[16] In addition, the sub-clade distribution map, Figure 1h titled "L11(xU106,S116)", in Myres et al. shows that R-P310/L11* (or as yet undefined subclades of R-P310/L11) occurs only in frequencies greater than 10% in Central England with surrounding areas of England and Wales having lower frequencies.[16] This R-P310/L11* is almost non-existent in the rest of Eurasia and North Africa with the exception of coastal lands fringing the western and southern Baltic (reaching 10% in Eastern Denmark and 6% in northern Poland) and in Eastern Switzerland and surrounds.[16]

M269 (R1b1a1a2)[23]

R-M269*

L23 (R1b1a1a2a)

R-L23*; Caucasus, Turkey, circum-Uralic; Upper Rhone Valley

L51/M412 (R1b1a1a2a1)

R-L51*/R-M412*

L151/P310/P311 (R1b1a1a2a1a)

R-P310/L11*: Central England

U106 (R1b1a1a2a1a1)

R-U106: Netherlands, England, Norway; Germanic Europe

P312/S116 (R1b1a1a2a1a2)

S116*: Iberian Peninsula

U152 (R1b1a1a2a1a2b)

U152: Corsica, Sardinia; Northern Italy, Central Italy, Switzerland, Central France, Russia (Perm region, Ghaeynae bashkirs)

L21_M529_S145 (R1b1a1a2a1a2c1)

M529: Ireland, Scotland, Wales

CTS4528 (R1b1a1a2a1a3a)

R-CTS4528

Z2103 (R1b1a1a2a2)

Z2103: Balkans and Turkey, Samara (Russia, Yamnaya a.c.), South Ural (burjan bashkirs)


In 2009, DNA extracted from the femur bones of 6 skeletons in an early-medieval burial place in Ergolding (Bavaria, Germany) dated to around c. 670 yielded the following results: 4 were found to be haplogroup R1b with the closest matches in modern populations of Germany, Ireland and the USA while 2 were in Haplogroup G2a.[24]

Population studies which test for M269 have become more common in recent years, while in earlier studies men in this haplogroup are only visible in the data by extrapolation of what is likely. The following gives a summary of most of the studies which specifically tested for M269, showing its distribution (as a percentage of total population) in Europe, North Africa, the Middle East and Central Asia as far as China and Nepal.

Country Sampling sample R-M269 Source
Wales National 65 92.3% Balaresque et al. (2009)[4]
Spain Basques 116 87.1% Balaresque et al. (2009)[4]
Ireland National 796 85.4% Moore et al. (2006)[25]
Spain Catalonia 80 81.3% Balaresque et al. (2009)[4]
France Ille-et-Vilaine 82 80.5% Balaresque et al. (2009)[4]
France Haute-Garonne 57 78.9% Balaresque et al. (2009)[4]
England Cornwall 64 78.1% Balaresque et al. (2009)[4]
France Loire-Atlantique 48 77.1% Balaresque et al. (2009)[4]
Italy Tuscany 42 76.2% Di Giacomo et al. (2003)[26]
France Finistère 75 76.0% Balaresque et al. (2009)[4]
France Basques 61 75.4% Balaresque et al. (2009)[4]
Italy North East 30 73.5% Di Giacomo et al. (2003)[26]
Spain East Andalucia 95 72.0% Balaresque et al. (2009)[4]
Spain Castilla La Mancha 63 72.0% Balaresque et al. (2009)[4]
France Vendée 50 68.0% Balaresque et al. (2009)[4]
Dominican Republic National 26 65.4% Bryc et al. (2010)[27]
France Baie de Somme 43 62.8% Balaresque et al. (2009)[4]
England Leicestershire 43 62.0% Balaresque et al. (2009)[4]
Italy North-East (Ladin) 79 60.8% Balaresque et al. (2009)[4]
Portugal National 657 59.9% Beleza et al. (2006)[28]
Italy Lombardy 80 59.0% Boattini et al. (2009)[29]
Spain Galicia 88 58.0% Balaresque et al. (2009)[4]
Spain West Andalucia 72 55.0% Balaresque et al. (2009)[4]
Portugal South 78 46.2% Balaresque et al. (2009)[4]
Denmark National 56 42.9% Balaresque et al. (2009)[4]
Netherlands National 84 42.0% Balaresque et al. (2009)[4]
Armenia/Turkey Ararat Valley 41 37.3% Herrera et al. (2012)[20]
Russia Bashkirs 471 34.40% Lobov (2009)[15]
Italy East Sicily 246 34.14% Tofanelli et al. (2015)[30]
Italy West Sicily 68 33.0% Tofanelli et al. (2015)[30]
Germany Bavaria 80 32.3% Balaresque et al. (2009)[4]
Turkey Lake Van 33 32.0% Herrera et al. (2012) [20]
Armenia Gardman 30 31.3% Herrera et al. (2012) [20]
Poland National 110 22.7% Myres et al. (2007)[31]
Slovenia National 75 21.3% Battaglia et al. (2008)[32]
Slovenia National 70 20.6% Balaresque et al. (2009)[4]
Turkey Central 152 19.1% Cinnioğlu et al. (2004)[33]
Republic of Macedonia National 64 18.8% Battaglia et al. (2008)[32]
Crete National 193 17.0% King et al. (2008)[34]
Italy Sardinia 930 17.0% Contu et al. (2008)[35]
Turkey Sasun 16 15.4% Herrera et al. (2012) [20]
Iran North 33 15.2% Regueiro et al. (2006)[36]
Moldova 268 14.6% Varzari (2006)[37]
Greece National 171 13.5% King et al. (2008)[34]
Turkey West 163 13.5% Cinnioğlu et al. (2004)[33]
Romania National 54 13.0% Varzari (2006)[37]
Croatia National 89 12.4% Battaglia et al. (2008)[32]
Turkey East 208 12.0% Cinnioğlu et al. (2004)[33]
Algeria Northwest (Oran area) 102 11.8% Robino et al. (2008)[38]
Russia Roslavl (Smolensk Oblast) 107 11.2% Balanovsky et al. (2008)[39]
Iraq National 139 10.8% Al-Zahery et al. (2003)[40]
Nepal Newar 66 10.6% Gayden et al. (2007)[41]
Bulgaria National 808 10.5% Karachanak et al. (2013)[42]
Serbia National 100 10.0% Belaresque et al. (2009)[4]
Lebanon National 914 7.3% Zalloua et al. (2008)[43]
Tunisia National 601 0.3% Bekada et al. (2013)[44]
Tunisia Tunis 139 7.2% Adams et al. (2008)[45]
Morocco National 760 3.5% Bekada et al. (2013)[44]
Lybia National 83 0.0% Bekada et al. (2013)[44]
Egypt National 360 2.9% Bekada et al. (2013)[44]
Algeria National 156 7.0% Bekada et al. (2013)[44]
Algeria Algiers, Tizi Ouzou 46 6.5% Adams et al. (2008)[45]
Bosnia-Herzegovina Serbs 81 6.2% Marjanovic et al. (2005)[46]
Iran South 117 6.0% Regueiro et al. (2006)[36]
Russia Repyevka (Voronezh Oblast) 96 5.2% Balanovsky et al. (2008)[39]
UAE 164 3.7% Cadenas et al. (2007)[47]
Bosnia-Herzegovina Bosniaks 85 3.5% Marjanovic et al. (2005)[46]
Pakistan 176 2.8% Sengupta et al. (2006)[48]
Russia Belgorod 143 2.8% Balanovsky et al. (2008)[39]
Russia Ostrov (Pskov Oblast) 75 2.7% Balanovsky et al. (2008)[39]
Russia Pristen (Kursk Oblast) 45 2.2% Balanovsky et al. (2008)[39]
Bosnia-Herzegovina Croats 90 2.2% Marjanovic et al. (2005)[46]
Qatar 72 1.4% Cadenas et al. (2007)[47]
China 128 0.8% Sengupta et al. (2006)[48]
India various 728 0.5% Sengupta et al. (2006)[48]
Croatia Osijek 29 0.0% Battaglia et al. (2008)[32]
Yemen 62 0.0% Cadenas et al. (2007)[47]
Tibet 156 0.0% Gayden et al. (2007)[41]
Nepal Tamang 45 0.0% Gayden et al. (2007)[41]
Nepal Kathmandu 77 0.0% Gayden et al. (2007)[41]
Japan 23 0.0% Sengupta et al. (2006)[48]

Sub-clades

R1b1a1a2a (R-L23)

R-L23* (R1b1a1a2a*) is now most commonly found in Anatolia, the Caucasus and the Mediterranean.

R1b1a1a2a1 (R-L51)

R-L51* (R1b1a1a2a1*) is now concentrated in a geographical cluster centred on southern France and northern Italy.

R1b1a1a2a1a (R-L151)

R-L151 (L151/PF6542, CTS7650/FGC44/PF6544/S1164, L11, L52/PF6541, P310/PF6546/S129, P311/PF6545/S128) also known as R1b1a1a2a1, and its subclades, include most males with R1b in Western Europe.

R1b1a1a2a1a1 (R-U106)

This subclade is defined by the presence of the SNP U106, also known as S21 and M405.[7][49] It appears to represent over 25% of R1b in Europe.[7] In terms of percentage of total population, its epicenter is Friesland, where it makes up 44% of the population.[50] In terms of total population numbers, its epicenter is Central Europe, where it comprises 60% of R1 combined.[50]

U106/S21/M405
un‑defined

R-U106* (R-U106-*)

FGC3861

R-FGC3861 (R1b1a2a1a1a)

Z18

R-Z18 (R1b1a2a1a1b)

Z381
S264

R-S264 (R1b1a2a1a1c1)

S499

R-S499 (R1b1a2a1a1c2)

M1994

R-M1994 (R1b1a2a1a1c3)

FGC396

R-FGC396 (R1b1a2a1a1d)

S12025

R-S12025 (R1b1a2a1a1e)

While this sub-clade of R1b is frequently discussed amongst genetic genealogists, the following table represents the peer-reviewed findings published so far in the 2007 articles of Myres et al. and Sims et al.[31][49]

Population Sample size R-M269 R-U106 R-U106-1
Austria [31] 22 27% 23% 0.0%
Central/South America [31] 33 0.0% 0.0% 0.0%
Czech Republic [31] 36 28% 14% 0.0%
Denmark [31] 113 34% 17% 0.9%
Eastern Europe[31] 44 5% 0.0% 0.0%
England[31] 138 57% 20% 1.4%
France[31] 56 52% 7% 0.0%
Germany[31] 332 43% 19% 1.8%
Ireland[31] 102 80% 6% 0.0%
Italy[16] 34 53% 6% 0.0%
Jordan[31] 76 0.0% 0.0% 0.0%
Middle-East[31] 43 0.0% 0.0% 0.0%
Netherlands[31] 94 54% 35% 2.1%
Oceania[31] 43 0.0% 0.0% 0.0%
Oman[31] 29 0.0% 0.0% 0.0%
Pakistan[31] 177 3% 0.0% 0.0%
Palestine[31] 47 0.0% 0.0% 0.0%
Poland[31] 110 23% 8% 0.0%
Russia[31] 56 21% 5.4% 1.8%
Slovenia[31] 105 17% 4% 0.0%
Switzerland[31] 90 58% 13% 0.0%
Turkey[31] 523 14% 0.4% 0.0%
Ukraine[31] 32 25% 9% 0.0%
United States[31] 58 5% 5% 0.0%
US (European) 125 46% 15% 0.8%
US (Afroamerican) 118 14% 2.5% 0.8%

R1b1a1a2a1a2 (R-P312/S116)

Along with R-U106, R-P312 is one of the most common types of R1b1a2 (R-M269) in Europe. Also known as S116, it has been the subject of significant study concerning its sub-clades, and some of the ones recognized by the ISOGG tree as of December 27, 2015 are summarized in the following table.[7] Myres et al. described it distributing from the west of the Rhine basin.[16]

P312
un‑defined

R-P312* (R-P312-*)

DF27

R-S227/Z196

R-Z2552

R-L881

R-A431

U152

R-L2

R-S206

R-Z56

L21

R-DF13 R-S521

R-DF63 R-S522

R-L238

R-DF19

R-DF99


  • R-M153 is defined by the presence of the marker M153. It has been found mostly in Basques and Gascons, among whom it represents a sizeable fraction of the Y-DNA pool,[45][51] though is also found occasionally among Iberians in general. The first time it was located (Bosch 2001[52]) it was described as H102 and included 7 Basques and one Andalusian.
  • R-M167 is defined by the presence of the marker M167. The first author to test for this marker (long before current haplogroup nomenclature existed) was Hurles in 1999, who tested 1158 men in various populations.[53] He found it relatively common among Basques (13/117: 11%) and Catalans (7/32: 22%). Other occurrences were found among other French, British, Spaniards, Béarnais, and Germans.
In 2000 Rosser et al., in a study which tested 3616 men in various populations[54] also tested for that same marker, naming the haplogroup Hg22, and again it was found mainly among Basques (19%), in lower frequencies among French (5%), Bavarians (3%), Spaniards (2%), Southern Portuguese (2%), and in single occurrences among Romanians, Slovenians, Dutch, Belgians and English.::In 2001 Bosch described this marker as H103, in 5 Basques and 5 Catalans.[52] Further regional studies have located it in significant amounts in Asturias, Cantabria and Galicia, as well as again among Basques.[52] Cases in the Azores have been reported.[citation needed] In 2008 two research papers by López-Parra[51] and Adams,[45] respectively, confirmed a strong association with all or most of the Pyrenees and Eastern Iberia.
In a larger study of Portugal in 2006, with 657 men tested, Beleza et al. confirmed similar low levels in all the major regions, from 1.5%–3.5%.[28]

R-L165 This subclade is defined by the presence of the marker S68, also known as L165. It is found in England, Scandinavia, and Scotland (in this country it is mostly found in the Northern Isles and Outer Hebrides). It has been suggested, therefore, that it arrived in the British Isles with Vikings.[55]

R-U152 is defined by the presence of the marker U152, also called S28.[7] Its discovery was announced in 2005 by EthnoAncestry[56] and subsequently identified independently by Sims et al. (2007).[49] Myres et al. report this clade "is most frequent (20–44%) in Switzerland, Italy, France and Western Poland, with additional instances exceeding 15% in some regions of England and Germany."[31] Similarly Cruciani et al. (2010)[57] reported frequency peaks in Northern and Central Italy and France. Out of a sample of 135 men in Tyrol, Austria, 9 tested positive for U152/S28.[58] Far removed from this apparent core area, Myres et al. also mention a sub-population in north Bashkortostan, where 71% of 70 men tested belong to R-U152. They propose this to be the result of an isolated founder effect.[16] King et al. (2014) reported four living descendants of Henry Somerset, 5th Duke of Beaufort in the male line tested positive for U-152.[59]

R-L21 is defined by the presence of the marker L21, also referred to as M529 and S145.[7] Myres et al. report it is most common in Ireland, Scotland and Wales (25–50% of the whole male population).[16] Known sub-clades include the following:-

  • R-M222 This subclade within R-L21 is defined by the presence of the marker M222. It is particularly associated with male lines which are Gaelic (Irish or Scottish), but especially north-western Irish. In this case, the relatively high frequency of this specific subclade among the population of certain counties in northwestern Ireland may be due to positive social selection, as it is suggested to have been the Y-chromosome haplogroup of the Uí Néill dynastic kindred of ancient Ireland.[25] However, it is not restricted to the Uí Néill as it is associated with the closely related Connachta dynasties, the Uí Briúin and Uí Fiachrach.[60] M222 is also found as a substantial proportion of the population of Scotland which may indicate substantial settlement from northern Ireland or at least links to it.[25][61] Those areas settled by large numbers of Irish and Scottish emigrants such as North America have a substantial percentage of M222.[25]
  • R-L159.2 This subclade within R-L21 is defined by the presence of the marker L159 and is known as L159.2 because of a parallel mutation that exists inside haplogroup I2a1 (L159.1). L159.2 appears to be associated with the Kings of Leinster and Diarmait Mac Murchada; Irish Gaels belonging to the Laigin. It can be found in the coastal areas of the Irish Sea including the Isle of Man and the Hebrides, as well as Norway, western and southern Scotland, northern and southern England, northwest France, and northern Denmark.[62]
  • R-L193 This subclade within R-L21 is defined by the presence of the marker L193. Many surnames with this marker are associated geographically with the western "Border Region" of Scotland. A few other surnames have a Highland association. R-L193 is a relatively young subclade likely born within the last 2000 years.
  • R-L226 This subclade within R-L21 is defined by the presence of the marker L226, also known as S168. Commonly referred to as Irish Type III, it is concentrated in central western Ireland and associated with the Dál gCais kindred.[63]
  • R-DF21 This subclade within R-L21 is defined by the presence of the marker DF21 aka S192. It makes up about 10% of all L21 men and is c.3000 years old.[64]
  • R-L371 This subclade within R-L21 is defined by the presence of the marker L371, referred to as the Welsh modal and associated with ancient Welsh Kings and Princes. [65][66][67]

See also

References

  1. ^ Balaresque et al. (2010), figure 1B: "Geographical distribution of haplogroup frequency of hgR1b1b2, shown as an interpolated spatial frequency surface. Filled circles indicate populations for which microsatellite data and TMRCA estimates are available. Unfilled circles indicate populations included to illustrate R1b1b2 frequency only. Population codes are defined in Table 1."
  2. ^ "Mean estimates for individual populations vary (Table 2), but the oldest value is in Central Turkey (7,989 y [95% confidence interval (CI): 5,661–11,014]), and the youngest in Cornwall (5,460 y [3,764–7,777]). The mean estimate for the entire dataset is 6,512 y (95% CI: 4,577–9,063 years), with a growth rate of 1.95% (1.02%–3.30%). Thus, we see clear evidence of rapid expansion, which cannot have begun before the Neolithic period." Balaresque et al. (2010).
  3. ^ dates according to the ISOGG trees for each respective year.
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  56. ^ http://ethnoancestry.com/R1b.html[unreliable source?]
  57. ^ Cruciani, Fulvio; et al. (June 2011). "Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152". Forensic Science International: Genetics. 5 (3): 49–52. doi:10.1016/j.fsigen.2010.07.006. PMID 20732840.
  58. ^ Niederstätter, Harald; Berger, Burkhard; Erhart, Daniel; Parson, Walther (August 2008). "Recently introduced Y-SNPs improve the resolution within Y-chromosome haplogroup R1b in a central European population sample (Tyrol, Austria)". Forensic Science International: Genetics Supplement Series. 1: 226–227. doi:10.1016/j.fsigss.2007.10.158. Retrieved 29 September 2015.
  59. ^ Henry Somerset was in turn descended in the patrilineal line from John of Gaunt (1340–1399), a son of King Edward III (1312–1377). In the context of the analysis of the remains of Richard III, which proved to belong to haplogroup G2, the possibility of a false-paternity event, most likely between Edward III and Henry Somerset, was discussed; possibly confirming rumors to the effect that John of Gaunt was illegitimate (Jonathan Sumption, Divided Houses: The Hundred Years War III, 2009, p. 274). King, Turi E.; et al. (2 December 2014). "Identification of the remains of King Richard III". Nature Communications. 5 (5631): 5631. doi:10.1038/ncomms6631. PMC 4268703. PMID 25463651. Retrieved 29 September 2015. "Y-chromosome haplotypes from male-line relatives and the remains do not match, which could be attributed to a false-paternity event occurring in any of the intervening generations."
  60. ^ O'Neill; McLaughlin (2006). "Insights Into the O'Neills of Ireland from DNA Testing". Journal of Genetic Genealogy. Archived from the original on 2016-03-03Template:Inconsistent citations {{cite journal}}: Unknown parameter |deadurl= ignored (|url-status= suggested) (help)CS1 maint: postscript (link)
  61. ^ Campbell, Kevin D. (2007). "Geographic Patterns of Haplogroup R1b in the British Isles" (PDF). Journal of Genetic Genealogy. 3: 1–13.
  62. ^ "R-L159 Project Goals"Template:Inconsistent citations{{cite web}}: CS1 maint: postscript (link)
  63. ^ Wright (2009). "A Set of Distinctive Marker Values Defines a Y-STR Signature for Gaelic Dalcassian Families". Journal of Genetic Genealogy.
  64. ^ "R-DF21 and Subclades Project".
  65. ^ Bevan, Nathan (2014-09-25). "Dafydd Iwan's rare genetic roots unveiled in new project". walesonline. Retrieved 2018-04-05.
  66. ^ Bodden, Tom (2014-09-26). "Dafydd Iwan 'descended from Welsh kings' who ruled in England". northwales. Retrieved 2018-04-05.
  67. ^ "Family Tree DNA - My FamilyTree DNA Project Website Title". www.familytreedna.com. Retrieved 2018-04-05.
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