Haplogroup R1b

From Wikipedia, the free encyclopedia
  (Redirected from R1b)
Jump to: navigation, search
Haplogroup R1b
Haplogroup R1b (Y-DNA).PNG
Possible place of origin Western Asia[1]
Ancestor R1
Descendants One immediate descendant – R1b1 (L278, M415, P25).
Three secondary descendants – R1b1a (R-M269); R1b1b (R-P297); R1b1c (R-V88)
Defining mutations 1. M343 defines R1b in the broadest sense
2. In some cases, major downstream mutations such as M269 – which now defines R1b1a2 – are used to identify R1b, especially in regional or out-of-date studies.[citation needed]

Haplogroup R1b (R-M343), known initially as Hg1 and Eu18, is a human Y-chromosome haplogroup.

It is the most frequently occurring paternal lineage in Western Europe, as well as some parts of Russia (e.g. the Bashkir minority) and Central Africa (e.g. Chad and Cameroon). R1b also reaches high frequencies in the Americas and Australasia, due largely to immigration from Western Europe. There is an ongoing debate regarding the origins of R1b subclades found at significant levels among some indigenous peoples of the Americas, such as speakers of Algic languages in central Canada. It is also present at lower frequencies throughout Eastern Europe, Western Asia, as well as parts of North Africa and Central Asia.

R1b has one primary branch, R1b1 (L278), which in turn has two primary branches: R1b1a (L75) and R1b1b (PH155). R1b1a is found mostly in Western Europe, although the Ful?e and Chadic-speaking peoples of Africa are dominated by R1b1a2 (PF6279/V88). Western Europe is dominated by the downstream subclades of R1b1a – especially R1b1a1a2 (R-M269), previously known as R1b1a2. R1b1b (PH155) is seen mostly in Western and Central Asia.

Origin and dispersal[edit]

R1b is a subclade within the "macro-haplogroup" Haplogroup K (K-M9), which is one of the predominant groupings of all the rest of human male lines outside of Africa. K* is believed to have originated in Asia (as is the case with an even earlier ancestral haplogroup, F (F-M89). Karafet T. 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." [2]

Three autosomal genetic studies in 2015 gave support to the Kurgan theory of Gimbutas regarding the Indo-European Urheimat. According to those studies, haplogroups R1b and R1a, now the most common in Europe (R1a is also common in South Asia) would have expanded from the Russian steppes, along with the Indo European languages; they also detected an autosomal component present in modern Europeans which was not present in Neolithic Europeans, which would have been introduced with paternal lineages R1b and R1a, as well as Indo European Languages.[3][4][5]

The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia.[6] T. Karafet et al. (2008) estimated the age of R1, the parent of R1b, as 18,500 years before present.[7]

Early research into the origins of R1b focused on Europe. In 2000, Ornella Semino and colleagues argued that R1b had been in Europe before the end of the Ice Age, and had spread north from an Iberian refuge after the Last Glacial Maximum.[8] Age estimates of R1b in Europe have steadily decreased in more recent studies, at least concerning the majority of R1b, with more recent studies suggesting a Neolithic age or younger.[clarification needed][6][9][10][11] On the other hand, Morelli et al. have recently (in 2010) attempted to defend a Palaeolithic origin for R1b1b2.[12] Irrespective of microsatellite coalescence calculations, Chikhi et al. pointed out that the timing of molecular divergences does not coincide with population splits; the TMRCA of haplogroup R1b (whether in the Palaeolithic or Neolithic) dates to its point of origin somewhere in Eurasia, and not its arrival in western Europe.[13] Summing up, Michael R. Maglio argues that the closest branch of R1b is from Iberia and its small subclades found in West Asia, the Near East and Africa are examples of back migration, and not of its origin.[14]

However, as Barbara Arredi and colleagues were the first to point out, the distribution of R1b microsatellite variance in Europe forms a cline from east to west, which is more consistent with an entry into Europe from Western Asia with the spread of farming.[11] A 2009 paper by Chiaroni et al. added to this perspective by using R1b as an example of a wave haplogroup distribution, in this case from east to west.[15] The proposal of a southeastern origin of R1b were supported by three detailed studies based on large datasets published in 2010. These detected that the earliest subclades of R1b are found in western Asia and the most recent in western Europe.[6][9][16]

While age estimates in these articles are all more recent than the Last Glacial Maximum, all mention the Neolithic, when farming was introduced to Europe from the Middle East as a possible candidate period. Myres et al. (August 2010), and Cruciani et al. (August 2010) both remained undecided on the exact dating of the migration or migrations responsible for this distribution, not ruling out migrations as early as the Mesolithic or as late as Hallstatt but more probably Late Neolithic.[6] They noted that direct evidence from ancient DNA may be needed to resolve these gene flows.[6] Lee et al. (May 2012) analysed the ancient DNA of human remains from the Late Neolithic Beaker culture site of Kromsdorf, Germany identifying two males as belonging to the Y haplogroup R1b.[17] Analysis of ancient Y DNA from the remains of populations derived from early Neolithic Central and North European Linear Pottery culture settlements have not yet found males belonging to haplogroup R1b.[18][19]

The suggestion has also been made that the spread of R1b in Western Europe may coincide with the spread of the Centum branch of the Indo-European languages during the early Bronze Age.[20]

One of the highest level of R1b is found among the Basques, who speak a non- Indo-European language isolate. One hypothesis about the case of the Basques is that a male-dominated Indo-European-speaking people invaded and conquered the Basque region, and then, having brought no or few women with them, then married local women, possibly from a matrilineal society The women then raised the children that resulted to speak their language and cultural practices, rather than those of their fathers. This hypothesis is supported by the fact that while other high-R1b regions in Western Europe (such as the British Isles and southern Germany) also show disproportionately high incidences of MtDNA haplogroups that correspond to a Pontic Steppes origin (specifically MtDNA Haplogroups I, U2, U3, U4, and W), while the Basque region does not. In fact, the Basque region displays virtually no MtDNA for which Pontic Steppes origin could be claimed.[20]


External phylogeny[edit]

R1b is a part of the broader Haplogroup K-M9 and its linear descendants K2, K2b and P, which is also known as K2b2. 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." [2]

  • P P295/PF5866/S8 (also known as K2b2).

Internal structure[edit]

Names such as R1b, R1b1 and so on are phylogenetic (i.e. "family tree") names which make clear their place within the branching of haplogroups, or the phylogenetic tree. An alternative way of naming the same haplogroups and subclades refers to their defining SNP mutations: for example, R-M343 is equivalent to R1b.[21] Phylogenetic names change with new discoveries and SNP-based names are consequently reclassified within the phylogenetic tree. In some cases, an SNP is found to be unreliable as a defining mutation and an SNP-based name is removed completely. For example, before 2005, R1b was synonymous with R-P25, which was later reclassified as R1b1; in 2016, R-P25 was removed completely as a defining SNP, due to a significant rate of back-mutation.[22]

This is the basic outline of R1b according to the ISOGG Tree as it stood on January 30, 2017.[1]

Basic phylogenetic tree for R1b
2017 ISOGG tree

R-M343* (R1b*). Now extremely rare outside Iran.


R-L278* (R1b1*). Now found at low levels throughout Eurasia.


R-L754* (R1b1a*). Found predominantly in Western Eurasia and Africa.


R-L388* (R1b1a1*). Concentrated in Europe, the Mediterranean basin and Anatolia.


R-P297 (R1b1a1a; P297/PF6398). Common in Europe and Anatolia.
Extinct in its basal form, i.e. R-P297*. (Previously R1b1a.)


R-V1636 (R1b1a1b). Found in the Mediterranean region at low frequencies.


R-V88 (R1b1a2). Now the most common form of R1b in Sub-Saharan Africa. (Previously known as R1b1c.)


R-PH155 (R1b1b). Extremely rare; examples have been found only in Bhutan and Tajikistan.


R1b* (R-M343*)[edit]

R1b* – that is, males with M343, but no subsequent distinguishing SNP mutations – is extremely rare. The only population yet recorded with a definite significant proportion of R1b* are the Kurds of southeastern Kazakhstan with 13%.[6][23] However, more recently, a large study of Y-chromosome variation in Iran, revealed R1b* as high as 4.3% among Iranian sub-populations.[24]

While studies in 2005–08 suggested that R1b* may occur at high levels in Jordan, Egypt and Sudan, subsequent research indicates that the samples concerned most likely belong to the subclade R1b1a2 (R-V88), which is now concentrated among African populations, following back migration from Asia.[25][26][27][28][29] It remains a possibility that some or even most of these cases may be R1b* (R-M343*), R1a* (R-M420*), an otherwise undocumented branch of R1, and/or back-mutations of a marker, from a positive to a negative ancestral state,[30] constituting, in other words, undocumented subclades of R1b. Thus demonstrating the importance of testing for SNPs critical in identifying subclades.

Europe Y-DNA. Principle puzzles – highlighted areas where the frequency of haplogroups represent more than a third of the gene pool (> 35%)

A compilation of previous studies regarding the distribution of R1b can be found in Cruciani et al. (2010).[31] It is summarised in the table following. (It should be noted that Cruciani did not include some studies suggesting even higher frequencies of R1b1a1a2 [R-M269] in some parts of Western Europe.)

Continent Region Sample size Total R1b R-P25
(unreliable marker for R1b1*)
R-V88 (R1b1a2) R-M269 (R1b1a1a2) R-M73 (R1b1a1a1)
Africa Northern Africa 691 5.9% 0.0% 5.2% 0.7% 0.0%
Africa Central Sahel Region 461 23.0% 0.0% 23.0% 0.0% 0.0%
Africa Western Africa 123 0.0% 0.0% 0.0% 0.0% 0.0%
Africa Eastern Africa 442 0.0% 0.0% 0.0% 0.0% 0.0%
Africa Southern Africa 105 0.0% 0.0% 0.0% 0.0% 0.0%
Europe Western Europeans 465 57.8% 0.0% 0.0% 57.8% 0.0%
Europe North-west Europeans 43 55.8% 0.0% 0.0% 55.8% 0.0%
Europe Central Europeans 77 42.9% 0.0% 0.0% 42.9% 0.0%
Europe North Eastern Europeans 74 1.4% 0.0% 0.0% 1.4% 0.0%
Europe Russians 60 6.7% 0.0% 0.0% 6.7% 0.0%
Europe Eastern Europeans 149 20.8% 0.0% 0.0% 20.8% 0.0%
Europe South-east Europeans 510 13.1% 0.0% 0.2% 12.9% 0.0%
Asia West Asians 328 5.8% 0.0% 0.3% 5.5% 0.0%
Asia South Asians 288 4.8% 0.0% 0.0% 1.7% 3.1%
Asia South-east Asians 10 0.0% 0.0% 0.0% 0.0% 0.0%
Asia North-east Asians 30 0.0% 0.0% 0.0% 0.0% 0.0%
Asia East Asians 156 0.6% 0.0% 0.0% 0.6% 0.0%
TOTAL 5326

R1b1 (R-L278)[edit]

R1b1*, like R1b* is rare. However, the skeletons of two males from both a Mesolithic pre-Yamna Samara culture burial dated to around 5650–5555 BC north of the Caspian Sea and an early Neolithic Cardial culture burial dated to around 5178–5066 BCE at the Els Trocs site, Aragon, in the Pyrenees, Spain were found to contain R1b1*.[32]

Some examples described in older articles, for example two found in Turkey,[21] are now thought to be mostly in the more recently discovered sub-clade R1b1a2 (R-V88). Most or all examples of R1b therefore fall into subclades R1b1c (R-V88) or R1b1a (R-P297). Cruciani et al. in the large 2010 study found 3 cases amongst 1173 Italians, 1 out of 328 West Asians and 1 out of 156 East Asians.[31] Varzari found 3 cases in the Ukraine, in a study of 322 people from the Dniester-Carpathian Mountains region, who were P25 positive, but M269 negative.[33] Cases from older studies are mainly from Africa, the Middle East or Mediterranean, and are discussed below as probable cases of R1b1c (R-V88).

R1b1a1 (R-L388)[edit]

R-L388, also known as R1b1a1 (L388/PF6468, L389/PF6531) appears to be extinct in its basal form. Its subclades are relatively rare and found in various parts of South West Asia, the Mediterranean basin and continental Europe.

R1b1a1a (R-P297)[edit]

The SNP marker P297 was recognised in 2008 as ancestral to the significant subclades M73 and M269, combining them into one cluster.[7] This had been given the phylogenetic name R1b1a1a (and, previously, R1b1a).

A majority of Eurasian R1b falls within this subclade, representing a very large modern population. Although P297 itself has not yet been much tested for, the same population has been relatively well studied in terms of other markers. Therefore, the branching within this clade can be explained in relatively high detail below. The skeleton of a male from a Chalcolithic Yamna burial in the Middle-Volga-Samara area, dated to around 3305–2925 BC, was found to possibly contain R1b1a* being P297 positive but L51 negative.[32]

R1b1a1a1 (R-M73)[edit]

R-M73 is reportedly the dominant haplogroup among the Kumandin of the Altai Republic in Russia.[34]

While early research into R-M73 claimed that it was significantly represented among the Hazara of Afghanistan and the Bashkirs of the Ural Mountains, this has apparently been overturned. For example, supporting material from a 2010 study by Behar et al. suggested that Sengupta et al. (2006) had misidentified Hazara individuals, who instead belonged to R2 or Q.[35][36][37] Likewise, most Bashkir males have been found to belong to R-152 (R1b1a1a2a1a2b) and some, mostly from south-eastern Bashkortostan, belonged to Haplogroup Q-M25 (Q1a1b) rather than R1b.

R1b1a1a2 (R-M269)[edit]

Projected spatial frequency distribution for haplogroup R-M269 in Europe. Haplogroup R-M269 is the commonest European Y-chromosomal lineage, increasing in frequency from east to west, and carried by 110 million European men.[9]

R-M269 (previously R1b1a2, amongst other names) is defined by the presence of SNP marker M269. R1b1a2* or M269 (xL23) is found at highest frequency in the central Balkans notably Kosovo with 7.9%, Macedonia 5.1% and Serbia 4.4%.[6] 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.[6] Notably this Bashkir population also has a high percentage of M269 sister branch M73 at 23.4%.[6] 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.[38]

European R1b is dominated by R-M269. It has been found at generally low frequencies throughout central Eurasia,[39] but with relatively high frequency among the Bashkirs of the Perm region (84.0%) and Baymaksky District (81.0%).[40] 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.

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),[41] the type of R1b found in the recently analyzed Yamna remains of the Samara Oblast and Orenburg Oblast.[32]

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,[6] 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.[42] M269 has likewise been observed among 8% of the Herero in Namibia.[29]

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%).[43]

From 2003 to 2005, what is now R1b1a2 was designated R1b3. From 2005 to 2008, it was R1b1c. From 2008 to 2011, it was R1b1b2.


R-M269* (R1b1a2*)


R-L23* (R1b1a2a*)


R-L51* (R1b1a2a1*)


R-L51*/R-M412* (R1b1a2a1a*)


R-P310/L11* (R1b1a2a1a1*)


R-U106 (R1b1a2a1a1a) Germanic Europe


R-P312 (R1b1a2a1a1b) Iberia, British Isles, Italy and France


R-CTS4528 (R1b1a2a1a3)


R-Z2103 (R1b1a2a2) Balkans and Turkey

As discussed above, in articles published around 2000 it was proposed that this clade had been in Europe before the last ice age,[44] but by 2010 more recent periods such as the European Neolithic have become the focus of proposals. A range of newer estimates for R1b1a2, or at least its dominant parts in Europe, are from 4,000 to a maximum of about 10,000 years ago, and looking in more detail is seen as suggesting a migration from Western Asia via southeastern Europe.[1][6][11][16] Western European R1b is dominated by R-P310.[1]

In this period between 2000 and 2010 that it became clear that 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[6][12]). 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."[6] 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.[6] 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.[6]

In 2009, DNA extracted from the femur bones of 6 skeletons in an early-medieval burial place in Ergolding (Bavaria, Germany) dated to around 670 AD 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.[45]

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)[9]
Spain Basques 116 87.1% Balaresque et al. (2009)[9]
Ireland National 796 85.4% Moore et al. (2006)[46]
Spain Catalonia 80 81.3% Balaresque et al. (2009)[9]
France Ille-et-Vilaine 82 80.5% Balaresque et al. (2009)[9]
France Haute-Garonne 57 78.9% Balaresque et al. (2009)[9]
England Cornwall 64 78.1% Balaresque et al. (2009)[9]
France Loire-Atlantique 48 77.1% Balaresque et al. (2009)[9]
Italy Tuscany 42 76.2% Di Giacomo et al. (2003)[47]
France Finistère 75 76.0% Balaresque et al. (2009)[9]
France Basques 61 75.4% Balaresque et al. (2009)[9]
Italy North East 30 73.5% Di Giacomo et al. (2003)[47]
Spain East Andalucia 95 72.0% Balaresque et al. (2009)[9]
Spain Castilla La Mancha 63 72.0% Balaresque et al. (2009)[9]
France Vendée 50 68.0% Balaresque et al. (2009)[9]
Dominican Republic National 26 65.4% Bryc et al. (2010)[48]
France Baie de Somme 43 62.8% Balaresque et al. (2009)[9]
England Leicestershire 43 62.0% Balaresque et al. (2009)[9]
Italy North-East (Ladin) 79 60.8% Balaresque et al. (2009)[9]
Portugal National 657 59.9% Beleza et al. (2006)[49]
Italy Lombardy 80 59.0% Boattini et al. (2009)[50]
Spain Galicia 88 58.0% Balaresque et al. (2009)[9]
Spain West Andalucia 72 55.0% Balaresque et al. (2009)[9]
Portugal South 78 46.2% Balaresque et al. (2009)[9]
Denmark National 56 42.9% Balaresque et al. (2009)[9]
Netherlands National 84 42.0% Balaresque et al. (2009)[9]
Armenia/Turkey Ararat Valley 41 37.3% Herrera et al. (2012)[38]
Russia Bashkirs 471 34.40% Lobov (2009)[40]
Italy East Sicily 246 34.14% Tofanelli et al. (2015)[51]
Italy West Sicily 68 33.0% Tofanelli et al. (2015)[51]
Germany Bavaria 80 32.3% Balaresque et al. (2009)[9]
Turkey Lake Van 33 32.0% Herrera et al. (2012) [38]
Armenia Gardman 30 31.3% Herrera et al. (2012) [38]
Poland National 110 22.7% Myres et al. (2007)[52]
Slovenia National 75 21.3% Battaglia et al. (2008)[53]
Slovenia National 70 20.6% Balaresque et al. (2009)[9]
Turkey Central 152 19.1% Cinnioğlu et al. (2004)[21]
Republic of Macedonia National 64 18.8% Battaglia et al. (2008)[53]
Crete National 193 17.0% King et al. (2008)[54]
Italy Sardinia 930 17.0% Contu et al. (2008)[55]
Turkey Sasun 16 15.4% Herrera et al. (2012) [38]
Iran North 33 15.2% Regueiro et al. (2006)[56]
Moldova 268 14.6% Varzari (2006)[33]
Greece National 171 13.5% King et al. (2008)[54]
Turkey West 163 13.5% Cinnioğlu et al. (2004)[21]
Romania National 54 13.0% Varzari (2006)[33]
Croatia National 89 12.4% Battaglia et al. (2008)[53]
Turkey East 208 12.0% Cinnioğlu et al. (2004)[21]
Algeria Northwest (Oran area) 102 11.8% Robino et al. (2008)[57]
Russia Roslavl (Smolensk Oblast) 107 11.2% Balanovsky et al. (2008)[58]
Iraq National 139 10.8% Al-Zahery et al. (2003)[59]
Nepal Newar 66 10.60% Gayden et al. (2007)[60]
Bulgaria National 808 10.5% Karachanak et al. (2013)[61]
Serbia National 100 10.0% Belaresque et al. (2009)[9]
Lebanon National 914 7.3% Zalloua et al. (2008)[62]
Tunisia Tunis 139 7.2% Adams et al. (2008)[63]
Algeria Algiers, Tizi Ouzou 46 6.5% Adams et al. (2008)[63]
Bosnia-Herzegovina Serbs 81 6.2% Marjanovic et al. (2005)[64]
Iran South 117 6.0% Regueiro et al. (2006)[56]
Russia Repyevka (Voronezh Oblast) 96 5.2% Balanovsky et al. (2008)[58]
UAE 164 3.7% Cadenas et al. (2007)[65]
Bosnia-Herzegovina Bosniaks 85 3.5% Marjanovic et al. (2005)[64]
Pakistan 176 2.8% Sengupta et al. (2006)[66]
Russia Belgorod 143 2.8% Balanovsky et al. (2008)[58]
Russia Ostrov (Pskov Oblast) 75 2.7% Balanovsky et al. (2008)[58]
Russia Pristen (Kursk Oblast) 45 2.2% Balanovsky et al. (2008)[58]
Bosnia-Herzegovina Croats 90 2.2% Marjanovic et al. (2005)[64]
Qatar 72 1.4% Cadenas et al. (2007)[65]
China 128 0.8% Sengupta et al. (2006)[66]
India various 728 0.5% Sengupta et al. (2006)[66]
Croatia Osijek 29 0.0% Battaglia et al. (2008)[53]
Yemen 62 0.0% Cadenas et al. (2007)[65]
Tibet 156 0.0% Gayden et al. (2007)[60]
Nepal Tamang 45 0.0% Gayden et al. (2007)[60]
Nepal Kathmandu 77 0.0% Gayden et al. (2007)[60]
Japan 23 0.0% Sengupta et al. (2006)[66]

R1b1a1a2a (R-L23)[edit]

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

R1b1a1a2a1 (R-L51)[edit]

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

R1b1a1a2a1a (R-L151)[edit]

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)[edit]

This subclade is defined by the presence of the SNP U106, also known as S21 and M405.[1][67] It appears to represent over 25% of R1b in Europe.[1] In terms of percentage of total population, its epicenter is Friesland, where it makes up 44% of the population.[68] In terms of total population numbers, its epicenter is Central Europe, where it comprises 60% of R1 combined.[68]


R-U106* (R-U106-*)


R-FGC3861 (R1b1a2a1a1a)


R-Z19 (R1b1a2a1a1b)


R-S264 (R1b1a2a1a1c1)


R-S499 (R1b1a2a1a1c2)


R-M1994 (R1b1a2a1a1c3)


R-FGC396 (R1b1a2a1a1d)


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.[52][67]

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

R1b1a1a2a1a2 (R-P312/S116)[edit]

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.[1] Myres et al. described it distributing from the west of the Rhine basin.[6]


R-P312* (R-P312-*)


R-S227/Z196 (R-P312-a1)

R-Z2552 (R-P312-a2)

R-L881 (R-P312-a3)

R-A431 (R-P312-a4)


R-L2 (R-P312-b1)

R-S206 (R-P312-b2)

R-Z56 (R-P312-b3)


R-DF13 R-S521 (R-P312-c1)

R-DF63 R-S522 (R-P312-c2)

R-L238 (R-P312-d)

R-DF19 (R-P312-e)

R-DF99 (R-P312-f)

Amongst these, scientific publications have given interpretation and comment on several:-

  • R-P312-a1a1a1a1 (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,[63][69] though is also found occasionally among Iberians in general. The first time it was located (Bosch 2001[70]) it was described as H102 and included 7 Basques and one Andalusian.
  • R-P312-alb (R-S228) This subclade is defined by the presence of the marker L176.2. It contains the following:
This subclade is defined by the presence of the marker M167, also known as SRY2627. 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.[71] 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[72] 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.[70] Further regional studies have located it in significant amounts in Asturias, Cantabria and Galicia, as well as again among Basques.[70] Cases in the Azores have been reported.[citation needed] In 2008 two research papers by López-Parra[69] and Adams,[63] 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%.[49]
  • R-P312-alb2 (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.[73]

R-P312-b (R-U152) is defined by the presence of the marker U152, also called S28.[1] Its discovery was announced in 2005 by EthnoAncestry[74] and subsequently identified independently by Sims et al. (2007).[67] 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."[52] Similarly Cruciani et al. (2010)[75] reported frequency peaks in Northern Italy and France. Out of a sample of 135 men in Tyrol, Austria, 9 tested positive for U152/S28.[76] Far removed from this apparent core area, Myres et al. also mention a sub-population in north Bashkortostan where 71% of 70 men tested were in R-U152. They propose this to be the result of an isolated founder effect.[6] King et al. (2014) reported four living relatives of King Richard III of England in the male line tested positive for U-152. However, DNA analysis of Richard III's skeleton showed he had a haplotype G-P287. The researchers concluded there must have been a non-paternal event in the intervening generations.[77]

R-P312-c (R-L21) is defined by the presence of the marker L21, also referred to as M529 and S145.[1] Myres et al. report it is most common in England and Ireland (25–50% of the whole male population).[6] Known sub-clades include the following:-

  • R-P312-c1a1a1a1 (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 Irish or Scottish, but especially northern 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.[46] 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.[78] 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.[46][79] Those areas settled by large numbers of Irish and Scottish emigrants such as North America have a substantial percentage of M222.[46]
  • R-P312-c1e1 (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. 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.[80]
  • R-P312-c1b1b1a (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-P312-c1f2a (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.[81]
  • R-P312-c1g (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.[82]

R1b1a1b (R-V1636)[edit]

R-V1636 (R1b1a1b) has no known subclades, is rare and has been found mostly in the broader Mediterranean region.

R1b1a2 (R-V88)[edit]

R1b1a2 (PF6279/V88; previously R1b1c) is defined by the presence of SNP marker V88, the discovery of which was announced in 2010 by Cruciani et al.[31] Apart from individuals in southern Europe and Western Asia, the majority of R-V88 was found in the Sahel among populations speaking Afroasiatic languages of the Chadic branch:

Region Population Country Language N Total% R1b1c (R-V88) R1b1a2 (R-M269) R1b1c* (R-V88*) R1b1c3 (R-V69)
N Africa Composite Morocco AA 338 0.0% 0.3% 0.6% 0.3% 0.0%
N Africa Mozabite Berbers Algeria AA/Berber 67 3.0% 3.0% 0.0% 3.0% 0.0%
N Africa Northern Egyptians Egypt AA/Semitic 49 6.1% 4.1% 2.0% 4.1% 0.0%
N Africa Berbers from Siwa Egypt AA/Berber 93 28.0% 26.9% 1.1% 23.7% 3.2%
N Africa Baharia Egypt AA/Semitic 41 7.3% 4.9% 2.4% 0.0% 4.9%
N Africa Gurna Oasis Egypt AA/Semitic 34 0.0% 0.0% 0.0% 0.0% 0.0%
N Africa Southern Egyptians Egypt AA/Semitic 69 5.8% 5.8% 0.0% 2.9% 2.9%
C Africa Songhai Niger NS/Songhai 10 0.0% 0.0% 0.0% 0.0% 0.0%
C Africa Fulbe Niger NC/Atlantic 7 14.3% 14.3% 0.0% 14.3% 0.0%
C Africa Tuareg Niger AA/Berber 22 4.5% 4.5% 0.0% 4.5% 0.0%
C Africa Ngambai Chad NS/Sudanic 11 9.1% 9.1% 0.0% 9.1% 0.0%
C Africa Hausa Nigeria (North) AA/Chadic 10 20.0% 20.0% 0.0% 20.0% 0.0%
C Africa Fulbe Nigeria (North) NC/Atlantic 32 0.0% 0.0% 0.0% 0.0% 0.0%
C Africa Yoruba Nigeria (South) NC/Defoid 21 4.8% 4.8% 0.0% 4.8% 0.0%
C Africa Ouldeme Cameroon (Nth) AA/Chadic 22 95.5% 95.5% 0.0% 95.5% 0.0%
C Africa Mada Cameroon (Nth) AA/Chadic 17 82.4% 82.4% 0.0% 76.5% 5.9%
C Africa Mafa Cameroon (Nth) AA/Chadic 8 87.5% 87.5% 0.0% 25.0% 62.5%
C Africa Guiziga Cameroon (Nth) AA/Chadic 9 77.8% 77.8% 0.0% 22.2% 55.6%
C Africa Daba Cameroon (Nth) AA/Chadic 19 42.1% 42.1% 0.0% 36.8% 5.3%
C Africa Guidar Cameroon (Nth) AA/Chadic 9 66.7% 66.7% 0.0% 22.2% 44.4%
C Africa Massa Cameroon (Nth) AA/Chadic 7 28.6% 28.6% 0.0% 14.3% 14.3%
C Africa Other Chadic Cameroon (Nth) AA/Chadic 4 75.0% 75.0% 0.0% 25.0% 50.0%
C Africa Shuwa Arabs Cameroon (Nth) AA/Semitic 5 40.0% 40.0% 0.0% 40.0% 0.0%
C Africa Kanuri Cameroon (Nth) NS/Saharan 7 14.3% 14.3% 0.0% 14.3% 0.0%
C Africa Fulbe Cameroon (Nth) NC/Atlantic 18 11.1% 11.1% 0.0% 5.6% 5.6%
C Africa Moundang Cameroon (Nth) NC/Adamawa 21 66.7% 66.7% 0.0% 14.3% 52.4%
C Africa Fali Cameroon (Nth) NC/Adamawa 48 20.8% 20.8% 0.0% 10.4% 10.4%
C Africa Tali Cameroon (Nth) NC/Adamawa 22 9.1% 9.1% 0.0% 4.5% 4.5%
C Africa Mboum Cameroon (Nth) NC/Adamawa 9 0.0% 0.0% 0.0% 0.0% 0.0%
C Africa Composite Cameroon (Sth) NC/Bantu 90 0.0% 1.1% 0.0% 1.1% 0.0%
C Africa Biaka Pygmies CAR NC/Bantu 33 0.0% 0.0% 0.0% 0.0% 0.0%
W Africa Composite 123 0.0% 0.0% 0.0% 0.0% 0.0%
E Africa Composite 442 0.0% 0.0% 0.0% 0.0% 0.0%
S Africa Composite 105 0.0% 0.0% 0.0% 0.0% 0.0%
TOTAL 1822


R-V88* (R1b1c*)


R-M18 (R1b1c1)


R-V35 (R1b1c2)


R-V69 (R1b1c3)

As can be seen in the above data table, R1b1c is found in northern Cameroon in west central Africa at a very high frequency, where it is considered to be caused by a pre-Islamic movement of people from Eurasia.[29][83]

R1b1a2a (R-M18)[edit]

R1b1a2a is a sub-clade of R-V88, which is defined by the presence of SNP marker M18.[7] It has been found only at low frequencies in samples from Sardinia[39][84] and Lebanon.[62]

R1b1b (R-M335)[edit]

R1b1b is defined by the presence of SNP marker M335. This haplogroup was created by the 2008 reorganisation of nomenclature and should not be confused with R1b1b2, which was previously called R1b1c. Its position in relation to the much more populous sub-clade R1b1a is uncertain.[7] The M335 marker was first published in 2004, when one example was discovered in Turkey, which was classified at that time as R1b4.[21]

Prominent members[edit]

The DNA tests that assisted in the identification of Czar Nicholas II of Russia found that he belonged to R1b.[85]

In popular culture[edit]

Bryan Sykes, in his book Blood of the Isles, gives the populations associated with R1b the name of Oisín for a clan patriarch, much as he did for mitochondrial haplogroups in The Seven Daughters of Eve.

Stephen Oppenheimer also deals with this haplogroup in his book Origins of the British, giving the R1b clan patriarch the Basque name "Ruisko" in honour of what he thinks is the Iberian origin of R1b.

Artem Lukichev has created a (non-scientific) animation based on a Bashkir epic about the Ural, which outlined the history of the clusters of haplogroup R1: R1a and R1b.[86]

The R1b-YDNA discussion group [87] is available for updates on the latest research and genetic genealogy.

See also[edit]

Phylogenetic tree of human Y-chromosome DNA haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1 [χ 4]
A1a A1b
A1b1 BT
F1  F2  F3  GHIJK
IJ   K
I J    LT [χ 5]  K2
L T [χ 6] NO [χ 7] K2b [χ 8]     K2c  K2d  K2e [χ 9]
N   O   K2b1 [χ 10]     P
K2b1a[χ 11]     K2b1b K2b1c      M     P1 P2
K2b1a1   K2b1a2   K2b1a3 S [χ 12] Q   R
  1. ^ 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. PMID 24166809. 
  2. ^ International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. ^ Haplogroup A0-T is also known as A0'1'2'3'4.
  4. ^ Haplogroup A1 is also known as A1'2'3'4.
  5. ^ Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. ^ Between 2002 and 2008, Haplogroup T (M184) was known as "Haplogroup K2" – that name has since been re-assigned to K-M526, the sibling of Haplogroup LT.
  7. ^ Haplogroup NO (M214) is also known as Haplogroup K2a (although the present Haplogroup K2e was also previously known as "K2a").
  8. ^ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  9. ^ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a, also known as Haplogroup NO).
  10. ^ Haplogroup K2b1 (P397/P399) is similar to the former Haplogroup MS, but has a broader and more complex internal structure.
  11. ^ Haplogroup K2b1a has also been known as Haplogroup S-P405.
  12. ^ Haplogroup S (S-M230), also known as K2b1a4, was previously known as Haplogroup K5.


  1. ^ a b c d e f g h i International Society of Genetic Genealogy (ISOGG) – Y-DNA Haplogroup R and its Subclades
  2. ^ a b Karafet, Tatiana; Mendez, Fernando; Sudoyo, Herawati (2014). "Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia". Nature. 23: 369–373. doi:10.1038/ejhg.2014.106. PMC 4326703Freely accessible. PMID 24896152. 
  3. ^ Massive migration from the steppe is a source for Indo-European languages in Europe, Haak et al, 2015
  4. ^ Population genomics of Bronze Age Eurasia, Allentoft et al, 2015
  5. ^ Eight thousand years of natural selection in Europe, Mathieson et al, 2015
  6. ^ a b c d e f g h i j k l m n o p q r s Myres, Natalie; Rootsi, Siiri; Lin, Alice A; Järve, Mari; King, Roy J; Kutuev, Ildus; Cabrera, Vicente M; Khusnutdinova, Elza K; et al. (2010). "A major Y-chromosome haplogroup R1b Holocene effect in Central and Western Europe". European Journal of Human Genetics. 19 (1): 95–101. doi:10.1038/ejhg.2010.146. PMC 3039512Freely accessible. PMID 20736979 
  7. ^ a b c d Karafet, TM; Mendez, FL; Meilerman, MB; Underhill, PA; Zegura, SL; Hammer, MF (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research. 18 (5): 830–8. doi:10.1101/gr.7172008. PMC 2336805Freely accessible. PMID 18385274. 
  8. ^ Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, De Benedictis G, Francalacci P, Kouvatsi A, et al. (2000). "The genetic legacy of paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective". Science. 290 (5494): 1155–59. doi:10.1126/science.290.5494.1155. PMID 11073453. 
  9. ^ 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 Balaresque, Patricia; Bowden, Georgina R.; Adams, Susan M.; Leung, Ho-Yee; King, Turi E.; et al. (2010). Penny, David, ed. "A Predominantly Neolithic Origin for European Paternal Lineages". PLOS Biology. Public Library of Science. 8 (1): e1000285. doi:10.1371/journal.pbio.1000285. PMC 2799514Freely accessible. PMID 20087410. Retrieved August 19, 2014. 
  10. ^ Sjödin, Per; François, Olivier (2011). Lalueza-Fox, Carles, ed. "Wave-of-Advance Models of the Diffusion of the Y Chromosome Haplogroup R1b1b2 in Europe". PLoS ONE. 6 (6:e21592): e21592. doi:10.1371/journal.pone.0021592 
  11. ^ a b c B. Arredi; E. S. Poloni; C. Tyler-Smith (2007). "The peopling of Europe". In Crawford, Michael H. Anthropological genetics: theory, methods and applications. Cambridge, UK: Cambridge University Press. p. 394. ISBN 0-521-54697-4. 
  12. ^ a b Morelli, Laura; Contu, Daniela; Santoni, Federico; Whalen, Michael B.; Francalacci, Paolo; Cucca, Francesco (2010). Lalueza-Fox, Carles, ed. "A Comparison of Y-Chromosome Variation in Sardinia and Anatolia Is More Consistent with Cultural Rather than Demic Diffusion of Agriculture". PLoS ONE. 5 (4): e10419. doi:10.1371/journal.pone.0010419. PMC 2861676Freely accessible. PMID 20454687 
  13. ^ http://www.pnas.org/content/95/15/9053.full.pdf+html
  14. ^ Maglio, Michael R. (2014-08-14). "Biogeographical Evidence for the Iberian Origins of R1b-L278 via Haplotype Aggregation (2014)". Origins DNA. Retrieved 2014-11-12. 
  15. ^ Chiaroni, J; Underhill, P; Cavalli-Sforza, L.L. (2009). "Y chromosome diversity, human expansion, drift and cultural evolution". PNAS. 106 (48): 20174:20179. doi:10.1073/pnas.0910803106. PMC 2787129Freely accessible. PMID 19920170 
  16. ^ a b Cruciani; Trombetta, Beniamino; Antonelli, Cheyenne; Pascone, Roberto; Valesini, Guido; Scalzi, Valentina; Vona, Giuseppe; Melegh, Bela; et al. (2010). "Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152". Forensic Science International: Genetics. 5 (3): e49. doi:10.1016/j.fsigen.2010.07.006. PMID 20732840 
  17. ^ Lee, Esther J.; et al. (3 May 2012). "Emerging genetic patterns of the european neolithic: Perspectives from a late neolithic bell beaker burial site in Germany". American Journal of Physical Anthropology. 148 (4): 571–9. doi:10.1002/ajpa.22074. PMID 22552938. 
  18. ^ Lacan, Marie; et al. (May 2, 2011). "Ancient DNA reveals male diffusion through the Neolithic Mediterranean route". Proceedings of the National Academy of Sciences of the United States of America. 108 (24): 9788–91. doi:10.1073/pnas.1100723108. PMC 3116412Freely accessible. PMID 21628562.  Check date values in: |year= / |date= mismatch (help)
  19. ^ Haak, Wolfgang; et al. (November 2010). Penny, David, ed. "Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities". PLoS Biology. 8 (11): e1000536. doi:10.1371/journal.pbio.1000536. PMC 2976717Freely accessible. PMID 21085689. 
  20. ^ a b eupedia.com/genetics
  21. ^ a b c d e f Cinnioğlu, C; King, R; Kivisild, T; Kalfoğlu, E; Atasoy, S; Cavalleri, GL; Lillie, AS; Roseman, CC; et al. (2004). "Excavating Y-chromosome haplotype strata in Anatolia" (PDF). Human Genetics. 114 (2): 127–48. doi:10.1007/s00439-003-1031-4. PMID 14586639. 
  22. ^ ISOGG, Y-DNA Haplogroup R and its Subclades - 2016 (8 February 2017).
  23. ^ Supplementary Table S4 (xls 62K) -> http://www.nature.com/ejhg/journal/v19/n1/suppinfo/ejhg2010146s1.html
  24. ^ PLOS ONE: Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians
  25. ^ Flores et. al. (2005) found that 20 out of all 146 men tested (13.7%) – including 20 out of 45 men tested from the Dead Sea area of Jordan – were positive for M173 (R1), and negative for both the R1a markers SRY10831.2 and M17, as well as the R1b subclades P25 (R1b1) and M269 (R1b1a2), a study indicates that they are R1b2 (R-V88). Wood et al. (2005) reported two Egyptian cases of R1-M173 that were negative for SRY10831 (R1a1) and P25 (R1b1), out of a sample of 1,122 males from African countries, including 92 from Egypt. Hassan et al. (2008) found an equally surprising 14 out of 26 (54%) of Sudanese Fula people who were M173+ and P25-
  26. ^ Natalie M Myres, Siiri Rootsi, Alice A Lin, Mari Järve, Roy J King, Ildus Kutuev, Vicente M Cabrera, Elza K Khusnutdinova, Andrey Pshenichnov, Bayazit Yunusbayev, Oleg Balanovsky, Elena Balanovska, Pavao Rudan, Marian Baldovic, Rene J Herrera, Jacques Chiaroni, Julie Di Cristofaro, Richard Villems, Toomas Kivisild & Peter A Underhill, 2010, "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe", Nature 2010, v. 19, no. 1 (28 May 2016)
  27. ^ Flores, C; Maca-Meyer, N; Larruga, JM; Cabrera, VM; Karadsheh, N; Gonzalez, AM (2005). "Isolates in a corridor of migrations: a high-resolution analysis of Y-chromosome variation in Jordan". Journal of Human Genetics. 50 (9): 435–41. doi:10.1007/s10038-005-0274-4. PMID 16142507. 
  28. ^ Hassan, HY; Underhill, PA; Cavalli-Sforza, LL; Ibrahim, ME (2008). "Y-chromosome variation among Sudanese: restricted gene flow, concordance with language, geography, and history" (PDF). American Journal of Physical Anthropology. 137 (3): 316–23. doi:10.1002/ajpa.20876. PMID 18618658. 13/32 
  29. ^ a b c Wood, ET; Stover, DA; Ehret, C; Destro-Bisol, G; Spedini, G; Mcleod, H; Louie, L; Bamshad, M; et al. (2005). "Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes" (PDF). European Journal of Human Genetics. 13 (7): 867–76. doi:10.1038/sj.ejhg.5201408. PMID 15856073. Archived from the original (PDF) on June 26, 2008. 
  30. ^ Adams, SM; King, TE; Bosch, E; Jobling, MA (2006). "The case of the unreliable SNP: recurrent back-mutation of Y-chromosomal marker P25 through gene conversion". Forensic Science International. 159 (1): 14–20. doi:10.1016/j.forsciint.2005.06.003. PMID 16026953. 
  31. ^ a b c Cruciani; Trombetta, B; Sellitto, D; Massaia, A; Destro-Bisol, G; Watson, E; Beraud Colomb, E; Dugoujon, JM; et al. (2010). "Human Y chromosome haplogroup R-V88: a paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages". European Journal of Human Genetics. 18 (7): 800–7. doi:10.1038/ejhg.2009.231. PMC 2987365Freely accessible. PMID 20051990. 
  32. ^ a b c Haak, Wolfgang; Lazaridis, Iosif (February 10, 2015). "Massive migration from the steppe is a source for Indo-European languages in Europe". bioRxiv. Cold Spring Harbor Laboratory. doi:10.1101/013433. Retrieved February 12, 2015. 
  33. ^ a b c Varzari, Alexander (2006). "Population History of the Dniester-Carpathians: Evidence from Alu Insertion and Y-Chromosome Polymorphisms" (PDF). Dissertation der Fakultät für Biologie der Ludwig-Maximilians-Universität München. 
  34. ^ Dulik, MC; Zhadanov, SI; Osipova, LP; Askapuli, A; Gau, L; Gokcumen, O; Rubinstein, S; Schurr, TG (2012). "Mitochondrial DNA and Y chromosome variation provides evidence for a recent common ancestry between Native Americans and Indigenous Altaians". Am. J. Hum. Genet. 90: 229–46. doi:10.1016/j.ajhg.2011.12.014. PMC 3276666Freely accessible. PMID 22281367. 
  35. ^ http://www.nature.com/nature/journal/v466/n7303/extref/nature09103-s1.pdf
  36. ^ European Journal of Human Genetics - Supplementary Information for article: A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe
  37. ^ Sengupta, S; Zhivotovsky, LA; King, R; 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". Am. J. Hum. Genet. 78: 202–21. doi:10.1086/499411. PMC 1380230Freely accessible. PMID 16400607. 
  38. ^ a b c d e Kristian, J Herrera; Lowery, Robert K; Hadden, Laura. "Haplotype diversity, variance and time estimations for Haplogroup R1b". European Journal of Human Genetics. 20 (3): Table 3. doi:10.1038/ejhg.2011.192. PMC 3286660Freely accessible. PMID 22085901. 
  39. ^ a b Peter A. Underhill, Peidong Shen, Alice A. Lin et al., "Y chromosome sequence variation and the history of human populations", Nature Genetics, Volume 26, November 2000
  40. ^ a b A. S. Lobov et al. (2009), "Structure of the Gene Pool of Bashkir Subpopulations" (original text in Russian)
  41. ^ Трофимова Натал'я Вадимовна (Feb. 2015), "Изменчивость Митохондриальной ДНК и Y-Хромосомы в Популяциях Волго-Уральского Региона" ("Mitochondrial DNA variation and the Y-chromosome in the population of the Volga-Ural Region"). Автореферат. диссертации на соискание ученой степени кандидата биологических наук. Уфа – 2015.
  42. ^ Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample
  43. ^ Ordóñez, A. C., Fregel, R., Trujillo-Mederos, A., Hervella, M., de-la-Rúa, C., & Arnay-de-la-Rosa, M. (2017). "Genetic studies on the prehispanic population buried in Punta Azul cave (El Hierro, Canary Islands)". Journal of Archaeological Science. 78: 20–28. Retrieved 16 February 2017. 
  44. ^ Semino, O; Passarino, G; Oefner, PJ; Lin, AA; Arbuzova, S; Beckman, LE; De Benedictis, G; Francalacci, P; et al. (2000). "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective". Science. 290 (5494): 1155–9. doi:10.1126/science.290.5494.1155. PMID 11073453. 
  45. ^ Vanek, Daniel; Saskovat and Koch (June 2009). "Kinship and Y-Chromosome Analysis of 7th Century Human Remains: Novel DNA Extraction and Typing Procedure for Ancient Material". Croatian Medical Journal. 3. 50 (3): 286–295. doi:10.3325/cmj.2009.50.286. PMC 2702742Freely accessible. PMID 19480023. 
  46. ^ a b c d Moore; McEvoy, B; Cape, E; Simms, K; Bradley, DG; et al. (2006). "A Y-Chromosome Signature of Hegemony in Gaelic Ireland". American Journal of Human Genetics. 78 (2): 334–8. doi:10.1086/500055. PMC 1380239Freely accessible. PMID 16358217. 
  47. ^ a b "Clinal patterns of human Y chromosomal diversity in continental Italy and Greece are dominated by drift and founder effects, Di Giacomo et al. (2003) (PDF)" (PDF). 
  48. ^ Bryc, Katarzyna et al. (May 2010). "Genome-wide patterns of population structure and admixture among Hispanic/Latino populations". PNAS 107: 5, 7–8. doi:10.1073/pnas.0914618107. Retrieved 25 July 2015.
  49. ^ a b Beleza, S; Gusmão, L; Lopes, A; Alves, C; Gomes, I; Giouzeli, M; Calafell, F; Carracedo, A; et al. (2006). "Micro-phylogeographic and demographic history of Portuguese male lineages". Annals of Human Genetics. 70 (Pt 2): 181–94. doi:10.1111/j.1529-8817.2005.00221.x. PMID 16626329. 395/657 
  50. ^ "Uniparental Markers in Italy Reveal a Sex-Biased Genetic Structure and Different Historical Strata". 
  51. ^ a b "The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily, Tofanelli et al". 
  52. ^ 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 Myres, NM; Ekins, JE; Lin, AA; Cavalli-Sforza, LL; Woodward, SR; Underhill, PA (2007). "Y-chromosome Short Tandem Repeat DYS458.2 Non-consensus Alleles Occur Independently in Both Binary Haplogroups J1-M267 and R1b3-M405". Croatian medical journal. 48 (4): 450–9. PMC 2080563Freely accessible. PMID 17696299. 
  53. ^ a b c d Battaglia, V; Fornarino, S; Al-Zahery, N; Olivieri, A; Pala, M; Myres, NM; King, RJ; Rootsi, S; et al. (2009). "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe". European Journal of Human Genetics. 17 (6): 820–30. doi:10.1038/ejhg.2008.249. PMC 2947100Freely accessible. PMID 19107149. 
  54. ^ a b King, RJ; Ozcan, SS; Carter, T; Kalfoğlu, E; Atasoy, S; Triantaphyllidis, C; Kouvatsi, A; Lin, AA; et al. (2008). "Differential Y-chromosome Anatolian influences on the Greek and Cretan Neolithic". Annals of Human Genetics. 72 (Pt 2): 205–14. doi:10.1111/j.1469-1809.2007.00414.x. PMID 18269686. 
  55. ^ Contu, D; Morelli, L; Santoni, F; Foster, JW; Francalacci, P; Cucca, F; Hawks, John (2008). Hawks, John, ed. "Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans". PLoS ONE. 3 (1): e1430. doi:10.1371/journal.pone.0001430. PMC 2174525Freely accessible. PMID 18183308. 174/930 
  56. ^ a b Regueiro, M; Cadenas, AM; Gayden, T; Underhill, PA; Herrera, RJ; et al. (2006). "Iran: Tricontinental Nexus for Y-Chromosome Driven Migration" (PDF). Hum Hered. 61 (3): 132–143. doi:10.1159/000093774. PMID 16770078. Archived from the original (PDF) on July 21, 2011. 
  57. ^ Robino; Crobu, F; Di Gaetano, C; Bekada, A; Benhamamouch, S; Cerutti, N; Piazza, A; Inturri, S; et al. (2008). "Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample". Journal International Journal of Legal Medicine. 122 (3): 251–5. doi:10.1007/s00414-007-0203-5. PMID 17909833. 
  58. ^ a b c d e Balanovsky, O; Rootsi, S; Pshenichnov, A; Kivisild, T; Churnosov, M; Evseeva, I; Pocheshkhova, E; Boldyreva, M; et al. (2008). "Two Sources of the Russian Patrilineal Heritage in Their Eurasian Context". AJHG. 82 (1): 236–250. doi:10.1016/j.ajhg.2007.09.019. PMC 2253976Freely accessible. PMID 18179905. 
  59. ^ Al-Zahery, N; Semino, O; Benuzzi, G; Magri, C; Passarino, G; Torroni, A; Santachiara-Benerecetti, AS (2003). "Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations" (PDF). Molecular Phylogenetics & Evolution. 28 (3): 458–72. doi:10.1016/S1055-7903(03)00039-3. PMID 12927131. 16/139 
  60. ^ a b c d Gayden, T; Cadenas, AM; Regueiro, M; Singh, NB; Zhivotovsky, LA; Underhill, PA; Cavalli-Sforza, LL; Herrera, RJ (2007). "The Himalayas as a Directional Barrier to Gene Flow". American Journal of Human Genetics. 80 (5): 884–94. doi:10.1086/516757. PMC 1852741Freely accessible. PMID 17436243. 
  61. ^ Karachanak S, Grugni V, Fornarino S, et al. (2013). "Y-chromosome diversity in modern Bulgarians: new clues about their ancestry". PLoS ONE. 8 (3): e56779. doi:10.1371/journal.pone.0056779. PMC 3590186Freely accessible. PMID 23483890. 
  62. ^ a b Zalloua, PA; Xue, Y; Khalife, J; Makhoul, N; Debiane, L; Platt, DE; Royyuru, AK; Herrera, RJ; Hernanz, DF; et al. (2008). "Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events". American Journal of Human Genetics. 82 (4): 873–82. doi:10.1016/j.ajhg.2008.01.020. PMC 2427286Freely accessible. PMID 18374297. 
  63. ^ a b c d Adams, SM; Bosch, E; Balaresque, PL; Ballereau, SJ; Lee, AC; Arroyo, E; López-Parra, AM; Aler, M; et al. (2008). "The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula". American Journal of Human Genetics. 83 (6): 725–36. doi:10.1016/j.ajhg.2008.11.007. PMC 2668061Freely accessible. PMID 19061982. 
  64. ^ a b c Marjanovic D, Fornarino S, Montagna S, et al. (November 2005). "The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups". Annals of Human Genetics. 69 (Pt 6): 757–63. doi:10.1111/j.1529-8817.2005.00190.x. PMID 16266413. 
  65. ^ a b c Cadenas; Zhivotovsky, LA; Cavalli-Sforza, LL; Underhill, PA; Herrera, RJ; et al. (2007). "Y-chromosome diversity characterizes the Gulf of Oman". European Journal of Human Genetics. 16 (3): 1–13. doi:10.1038/sj.ejhg.5201934. PMID 17928816. 
  66. ^ a b c d Sengupta, S; Zhivotovsky, LA; King, R; Mehdi, SQ; Edmonds, CA; Chow, CE; Lin, AA; Mitra, M; 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): 202–21. doi:10.1086/499411. PMC 1380230Freely accessible. PMID 16400607. 8/176 R-M73 and 5/176 R-M269 for a total of 13/176 R1b in Pakistan and 4/728 R-M269 in India 
  67. ^ a b c Sims, LM; Garvey, D; Ballantyne, J (2007). "Sub-populations within the major European and African derived haplogroups R1b3 and E3a are differentiated by previously phylogenetically undefined Y-SNPs" (PDF). Human Mutation. 28 (1): 97. doi:10.1002/humu.9469. PMID 17154278. 
  68. ^ a b https://gap.familytreedna.com/media/docs/2013/Hammer_M269_Diversity_in_Europe.pdf
  69. ^ a b López-Parra, AM; Gusmão, L; Tavares, L; Baeza, C; Amorim, A; Mesa, MS; Prata, MJ; Arroyo-Pardo, E (2009). "In search of the pre- and post-neolithic genetic substrates in Iberia: evidence from Y-chromosome in Pyrenean populations". Annals of Human Genetics. 73 (1): 42–53. doi:10.1111/j.1469-1809.2008.00478.x. PMID 18803634. 
  70. ^ a b c Bosch, E; Calafell, F; Comas, D; Oefner, PJ; Underhill, PA; Bertranpetit, J (2001). "High-Resolution Analysis of Human Y-Chromosome Variation Shows a Sharp Discontinuity and Limited Gene Flow between Northwestern Africa and the Iberian Peninsula". American Journal of Human Genetics. 68 (4): 1019–29. doi:10.1086/319521. PMC 1275654Freely accessible. PMID 11254456. 
  71. ^ Hurles, ME; Veitia, R; Arroyo, E; Armenteros, M; Bertranpetit, J; Pérez-Lezaun, A; Bosch, E; Shlumukova, M; et al. (1999). "Recent Male-Mediated Gene Flow over a Linguistic Barrier in Iberia, Suggested by Analysis of a Y-Chromosomal DNA Polymorphism". American Journal of Human Genetics. 65 (5): 1437–48. doi:10.1086/302617. PMC 1288297Freely accessible. PMID 10521311. 
  72. ^ Rosser, ZH; Zerjal, T; Hurles, ME; Adojaan, M; Alavantic, D; Amorim, A; Amos, W; Armenteros, M; et al. (2000). "Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language". American Journal of Human Genetics. 67 (6): 1526–43. doi:10.1086/316890. PMC 1287948Freely accessible. PMID 11078479. 
  73. ^ Moffat, Alistair; Wilson, James F. (2011). The Scots: a genetic journey. Birlinn. pp. 181–182, 192. ISBN 978-0-85790-020-3 
  74. ^ http://ethnoancestry.com/R1b.html[unreliable source?]
  75. ^ 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. 
  76. ^ 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. 
  77. ^ King, Turi E.; et al. (2 December 2014). "Identification of the remains of King Richard III". Nature Communications. 5 (5631). doi:10.1038/ncomms6631. PMC 4268703Freely accessible. PMID 25463651. Retrieved 29 September 2015. 
  78. ^ O'Neill; McLaughlin (2006). "Insights Into the O'Neills of Ireland from DNA Testing". Journal of Genetic Genealogy 
  79. ^ Campbell, Kevin D. (2007). "Geographic Patterns of Haplogroup R1b in the British Isles" (PDF). Journal of Genetic Genealogy. 3: 1–13. 
  80. ^ "R-L159 Project Goals" 
  81. ^ Wright (2009). "A Set of Distinctive Marker Values Defines a Y-STR Signature for Gaelic Dalcassian Families". Journal of Genetic Genealogy. 
  82. ^ "R-DF21 and Subclades Project". 
  83. ^ Cruciani, F; Santolamazza, P; Shen, P; Macaulay, V; Moral, P; Olckers, A; Modiano, D; Holmes, S; et al. (2002). "A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes". American Journal of Human Genetics. 70 (5): 1197–214. doi:10.1086/340257. PMC 447595Freely accessible. PMID 11910562. , pp. 13–14
  84. ^ Contu, D; Morelli; Santoni; Foster; Francalacci; Cucca (2008). "Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans". PLoS ONE. 3 (1): e1430. doi:10.1371/journal.pone.0001430. PMC 2174525Freely accessible. PMID 18183308. 
  85. ^ Coble MD, Loreille OM, Wadhams MJ, Edson SM, Maynard K, et al. (2009). "Mystery Solved: The Identification of the Two Missing Romanov Children Using DNA Analysis". PLoS ONE. 4 (3): e4838. doi:10.1371/journal.pone.0004838. PMC 2652717Freely accessible. PMID 19277206. 
  86. ^ About R1a and R1b from Ural epic story. Artem Lukichev (c)
  87. ^ Yahoo! Groups