Haplogroup R1b (Y-DNA)

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Haplogroup R1b

Haplogroup R1b (Y-DNA).PNG

Possible time of origin less than 18,500 years BP[1]
Possible place of origin West Asia,[2] Russian Plain[3] or Central Asia[3]
Ancestor R1
Descendants R1b1a (R-P297), R1b1b (R-M335), R1b1c (R-V88)
Defining mutations 1. M343 defines R1b in the broadest sense
2. P25 defines R1b1, making up most of R1b, and is often used to test for R1b
it has been confused with m25, which is the marker for Q1a2 3. In some cases, major downstream mutations such as M269 are used to identify R1b, especially in regional or out-of-date studies
Highest frequencies Western Europe, Northern Cameroon, Bashkirs

Haplogroup R1b (Y-DNA) is the dominant paternal lineage of Western Europe. In human genetics, Haplogroup R1b is the most frequently occurring Y-chromosome haplogroup in Western Europe and in parts of sub-Saharan Central Africa (for example around Chad and Cameroon). R1b is also present at lower frequencies throughout Eastern Europe, Western Asia, Central Asia, and parts of North Africa, South Asia, and Siberia. Due to European emigration it also reaches high frequencies in the Americas and Australia. While Western Europe is dominated by the R1b1a2 (R-M269) branch of R1b, the mostly Chadic-speaking area in Africa is dominated by the branch known as R1b1c (R-V88). These represent two very successful "twigs" on a much bigger "family tree."

R1b (Y-DNA) Regional Distribution %

Nomenclature[edit]

"R1b", "R1b1", and so on are "phylogenetic" or family tree based names which explain the branching of the family tree of R1b. For example R1b1a and R1b1b would be branches of R1b1, descending from a common ancestor. This means that these names can change with new discoveries.

The alternative way of naming haplogroups is to refer to the SNP mutations used to define and identify them, for example "R-M343" which is equivalent to "R1b." Haplogroup R1b is in other words now identified by the presence of the single-nucleotide polymorphism (SNP) mutation M343, which was discovered in 2004.[4] From 2002 to 2005, R1b was defined by the presence of the SNP named P25.

Standardized naming as described above, both using phylogenetic or mutational systems, was first proposed in 2002 by the Y Chromosome Consortium. Prior to 2002, today's Haplogroup R1b had a number of names in differing nomenclature systems, such as Hg1 and Eu18.[5]

After 2002, a major update of the YCC phylogenetic nomenclature was made in 2008 by Karafet et al. which took account of newer discoveries of branches which could be clearly defined by SNP mutations, including some which changed the understanding of R1b's family tree.[1] Since 2008 it has become increasing necessary to refer to the frequently updated listing made on the ISOGG website.[2]

Also prior to 2002, major Y DNA signatures based on markers other than SNPs were recognized. In Western Europe the STR haplotype known as the Atlantic Modal Haplotype was found to be most common by Wilson et al.[6] Even earlier research using RFLP genotyping identified two distinct haplotypes within R-M269. In southeast Europe and southwest Asia (e.g. the Balkans, Georgia and Turkey) "haplotype 35" or "ht35" was found to be a common form of R-M269, whereas in western Europe "haplotype 15" or "ht15" dominated in frequency.[4]

Origin and dispersal[edit]

R1b is a sub-clade within the much larger Eurasian MNOPS "macro-haplogroup", which is one of the predominant groupings of all the rest of human male lines outside of Africa, and this whole group, along indeed with all of macro-haplogroup F, is believed to have originated in Asia.

Macro-haplogroup MNOPS

Haplogroup M. New Guinea, Melanesia, eastern Indonesia, and Polynesia.


Macro-haplogroup NO

Haplogroup N. Mainly found in North Asia and northeastern Europe.



Haplogroup O. Mainly found in East Asia, Southeast Asia, and Austronesia.



Macro-haplogroup P

Haplogroup Q. Mainly found in North Asia and the Americas.


Macro-haplogroup R
Macro-haplogroup R1

Haplogroup R1a. Mainly found in Eastern Europe, Central Asia and South Asia.



Haplogroup R1b. Mainly found in Western Europe, Central Africa and South West Asia.




Haplogroup R2. Mainly found in South Asia, parts of Central Asia and West Asia





Haplogroup S. New Guinea, Melanesia, and eastern Indonesia.



The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia.[7] T. Karafet et al. estimated the age of R1, the parent of R1b, as 18,500 years before present.[1]

Early research focused upon 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.[7][9][10][11] Only Morelli et al. have recently attempted to defend a Palaeolithic origin for R1b1b2.[12] Irrespective of STR 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.[1]

Barbara Arredi and colleagues were the first to point out that the distribution of R1b STR 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.[13] 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.[7][9][14] 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.[7] They noted that direct evidence from ancient DNA may be needed to resolve these gene flows.[7] Lee et al. (May 2012) analysed the ancient DNA of human remains from the Late Neolithic Bell Beaker site of Kromsdorf, Germany identifying two males as belonging to the Y haplogroup R1b.[15] Analysis of ancient Y DNA from the remains of populations derived from early Neolithic settlements such as the Mediterranean Cardium and Central and North European LBK settlements have found an absence of males belonging to haplogroup R1b.[16][17] Additionally, a 2013 paper by A. Klyosov et al suggested that the haplogroup R1b might be attributed to non-Indo-European and agglutinative languages, i.e. Proto-Turkic, Dené-Caucasian or even Sino-Tibetan.[3] At least one source now identifies haplogroup R1b with the western Indo-Europeans (Celts, Italics, and one of the three founding lines for the Germanics), with a chalcolithic or early Bronze Age arrival time.[verification needed]

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

European R1b is now known to be dominated by R-M269, and the origins of this branch are discussed further in more detail below.

Root of R1b tree[edit]

For clarity, the identifiers below are those from both the 2010 and 2011 revisions of the ISOGG tree.[2]

Contrasting family trees for R1b
2010 ISOGG tree 2011 ISOGG tree
M343
still un-defined

R-M343* (R1b*)


P25
still un-defined

R-P25* (R1b1*)


V88

R-V88 (R1b1a). Most common Sub-Saharan African R1b.


P297
still un-defined

R-P297* (R1b1b*)


M73

R-M73 (R1b1b1). Found in Altai, Anatolia, Caucasus, Urals, Hazara


M269
still un-defined

R-M269* (R1b1a2*)


L23

R-L23 (R1b1a2a). Most common European R1b






M343
still un-defined

R-M343* (R1b*)


P25
still un-defined

R-P25* (R1b1*)


P297
still un-defined

R-P297* (R1b1a*)


M73

R-M73 (R1b1a1). Found in Anatolia, Caucasus, Urals, Hazara


M269
still un-defined

R-M269* (R1b1a2*)


L23

R-L23 (R1b1a2a). Most common European R1b




M335

R-M335 (R1b1b)


V88

R-V88 (R1b1c). Most common Sub-Saharan African R1b.




R1b (R-M343)[edit]

R1b* (that is R1b with 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%.[7] However, more recently, a large study of Y-chromosome variation in Iran, revealed R1b* as high as 4.3% among Persian sub-populations.[18] In a study of Jordan it was found that no less than 20 out of all 146 men tested (13.7%), including most notably 20 out of 45 men tested from the Dead Sea area, were positive for M173 (R1) but negative for P25 and M269, mentioned above, as well as the R1a markers SRY10831.2 and M17, a study indicates that they are all R1b2-v88 [2].[19] Hassan et al. (2008) found an equally surprising 14 out of 26 (54%) of Sudanese Fulani who were M173+ and P25-.[20] Wood et al. report 2 Egyptian cases of R1-M173 which were negative for SRY10831 (R1a1) and P25 (R1b1), out of a sample of 1,122 males from various African countries, including 92 from Egypt.[21] Such cases could possibly be either R1b* (R-M343*) or R1a* (R-M420*) (demonstrating the importance of checking exact mutations tested when comparing findings in this field).

It is however also possible that some of the rare examples represent a reversion of marker P25 from a positive back to a negative ancestral state.[22]

Frequency table of R1b1 (R-P25) subclades[edit]

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

An up-to-date compilation of data taking the latest information into account can be found in Cruciani et al. (2010) which can be summarised as follows.[23] As will be discussed below however, in some parts of western and northwestern Europe, R-M269 frequencies can reach even higher levels.

Continent Population #No. Total% R-P25* R-V88 R-M269 R-M73
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 western 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 eastern Europeans 510 13.1% 0.0% 0.2% 12.9% 0.0%
Asia Western Asians 328 5.8% 0.0% 0.3% 5.5% 0.0%
Asia Southern Asians 288 4.8% 0.0% 0.0% 1.7% 3.1%
Asia South eastern Asians 10 0.0% 0.0% 0.0% 0.0% 0.0%
Asia North eastern Asians 30 0.0% 0.0% 0.0% 0.0% 0.0%
Asia Eastern Asians 156 0.6% 0.0% 0.0% 0.6% 0.0%
TOTAL 5326

R1b1 (R-P25)[edit]

R1b1*, like R1b* is rare. As mentioned above, examples are described in older articles, for example two in a sample from Turkey,[4] but most cases, especially in Africa, are now thought to be mostly in the more recently discovered sub-clade R-V88 (see below). 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.[23] Varzari found 3 cases in the Ukraine, in a study of 322 people from the Dniester-Carpathian region, who were P25 positive, but M269 negative.[24] Cases from older studies are mainly from Africa, the Middle East or Mediterranean, and are discussed below as probable cases of R1b1a (R-V88).

R1b1a (R-P297)[edit]

R1b1a is defined by the presence of SNP marker P297. In 2008 this polymorphism was recognised to combine M73 and M269 into one R1b1a cluster.[1] The majority of Eurasian R1b is within this clade, 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.

M73[edit]

Poor snp typing has caused confusion as to whether this group is R1b or Q, for example in Behar et al 5 former cases of R1b-M73 were relabeled as a subclade of PQR2xR1 , suggesting that this group may really be Q or less likely R2, as the so called R1b-m73 samples were negative for the mutation that defined R1.[25] m73 (2011 name) is defined by the presence of SNP marker M73. It has been found at generally low frequencies throughout central Eurasia,[26] and in Altay,[27] but has been found with relatively high frequency among particular populations there including Hazaras in Pakistan (8/25 = 32%);[28] and Bashkirs in Bashkortostan (62/471 = 13.2%), 44 of these being found among the 80 tested Bashkirs of the Abzelilovsky District in the Republic of Bashkortostan (55.0%).[29] Four M73 men were also found in a 523-person study of Turkey,[4] and one person in a 168-person study of Crete.[30]

A large proportion of Kumandin Y chromosomes belong to M73 which is largely restricted to Central Asia[31] but has also been found in Altaian Kazakhs and other southern Siberians.[32][33][34]

In 2007, Myres et al. report that out of 193 M73 men found amongst 10,355 widespread men, "all except two Russians occurred outside Europe, either in the Caucasus, Turkey, the Circum-Uralic and North Pakistan regions."[35]

R1b1a2 (R-M269)[edit]

R1b1a2 (2011 name) 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%.[7] Kosovo is notable in also 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.[7] Notably this Bashkir population also has a high percentage of M269 sister branch M73 at 23.4%.[7] Five individuals out of 110 tested in the Ararat Valley, Armenia belonged to R1b1a2* and 36 to L23*, with none belonging to subclades of L23.[36]

European R1b is dominated by R-M269. It has been found at generally low frequencies throughout central Eurasia,[26] but with relatively high frequency among Bashkirs of the Perm Region (84.0%) and Baymaksky Region (81.0%).[29] This marker is also present in China and India at frequencies of less than one percent. The table below lists in more detail the frequencies of M269 in various regions in Asia, Europe, and Africa.

The frequency is about 82% in Ireland, 70% in Scotland, 68% in Spain, 60% in France (76% in Normandy), 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.[37]

Distribution of haplogroup R1b in Central Europe

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.

M269
still un-defined

R-M269* (R1b1a2*)


L23
still un-defined

R-L23* (R1b1a2a*)


L150
still un-defined

R-L150* (R1b1a2a1*)


L51/M412
still un-defined

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


P310/L11
still un-defined

R-P310/L11* (R1b1a2a1a1*)


U106

R-U106 (R1b1a2a1a1a)


P312

R-P312 (R1b1a2a1a1b)





R-L277 (R1b1a1a1b)





As discussed above, in articles published around 2000 it was proposed that this clade had been in Europe before the last Ice Age,[38] but by 2010 more recent periods such as the European Neolithic have become the focus of proposals. A range of newer estimates for R1b1b2, 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.[2][7][11][14] Western European R1b is dominated by R-P310.[2]

It was also 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[7][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*, that 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 also present but in generally much lower levels apart from "an instance of 27% in Switzerland's Upper Rhone Valley."[7] 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.[7] 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.[7]

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.[39]

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)[40]
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]
France Finistère 75 76.0% Balaresque et al. (2009)[9]
France Basques 61 75.4% Balaresque et al. (2009)[9]
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]
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]
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]
Italy North-West 99 45.0% 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]
Italy North East 67 41.8% Battaglia et al. (2008)[41]
Armenia Ararat Valley 41 37.3% Herrera et al. (2012)[36]
Russia Bashkirs 471 34.40% Lobov (2009)[29]
Germany Bavaria 80 32.3% Balaresque et al. (2009)[9]
Armenia Lake Van 33 32.0% Herrera et al. (2012) [36]
Armenia Gardman 30 31.3% Herrera et al. (2012) [36]
Italy West Sicily 122 30.3% Di Gaetano et al. (2009)[42]
Poland National 110 22.7% Myres et al. (2007)[35]
Serbia National 100 10.0% Belaresque et al. (2009)[9]
Slovenia National 75 21.3% Battaglia et al. (2008)[41]
Slovenia National 70 20.6% Balaresque et al. (2009)[9]
Turkey Central 152 19.1% Cinnioğlu et al. (2004)[4]
Republic of Macedonia National 64 18.8% Battaglia et al. (2008)[41]
Italy East Sicily 114 18.4% Di Gaetano et al. (2009)[42]
Crete National 193 17.0% King et al. (2008)[43]
Italy Sardinia 930 17.0% Contu et al. (2008)[44]
Armenia Sasun 16 15.4% Herrera et al. (2012) [36]
Iran North 33 15.2% Regueiro et al. (2006)[45]
Moldova 268 14.6% Varzari (2006)[24]
Greece National 171 13.5% King et al. (2008)[43]
Turkey West 163 13.5% Cinnioğlu et al. (2004)[4]
Romania National 54 13.0% Varzari (2006)[24]
Turkey East 208 12.0% Cinnioğlu et al. (2004)[4]
Algeria Northwest (Oran area) 102 11.8% Robino et al. (2008)[46]
Russia Roslavl (Smolensk Oblast) 107 11.2% Balanovsky et al. (2008)[47]
Iraq National 139 10.8% Al-Zahery et al. (2003)[48]
Nepal Newar 66 10.60% Gayden et al. (2007)[49]
Bulgaria National 808 10.5% Karachanak et al. (2013)[50]
Tunisia Tunis 139 7.2% Adams et al. (2008)[51]
Algeria Algiers, Tizi Ouzou 46 6.5% Adams et al. (2008)[51]
Bosnia-Herzegovina Serbs 81 6.2% Marjanovic et al. (2005)[52]
Iran South 117 6.0% Regueiro et al. (2006)[45]
Russia Repyevka (Voronezh Oblast) 96 5.2% Balanovsky et al. (2008)[47]
UAE 164 3.7% Cadenas et al. (2007)[53]
Bosnia-Herzegovina Bosniaks 85 3.5% Marjanovic et al. (2005)[52]
Pakistan 176 2.8% Sengupta et al. (2006)[28]
Russia Belgorod 143 2.8% Balanovsky et al. (2008)[47]
Russia Ostrov (Pskov Oblast) 75 2.7% Balanovsky et al. (2008)[47]
Russia Pristen (Kursk Oblast) 45 2.2% Balanovsky et al. (2008)[47]
Bosnia-Herzegovina Croats 90 2.2% Marjanovic et al. (2005)[52]
Qatar 72 1.4% Cadenas et al. (2007)[53]
China 128 0.8% Sengupta et al. (2006)[28]
India various 728 0.5% Sengupta et al. (2006)[28]
Croatia Osijek 29 0.0% Battaglia et al. (2008)[41]
Yemen 62 0.0% Cadenas et al. (2007)[53]
Tibet 156 0.0% Gayden et al. (2007)[49]
Nepal Tamang 45 0.0% Gayden et al. (2007)[49]
Nepal Kathmandu 77 0.0% Gayden et al. (2007)[49]
Japan 23 0.0% Sengupta et al. (2006)[28]
R1b1a2a1a1a (R-U106)[edit]

This subclade is defined by the presence of the SNP U106, also known as S21 and M405.[2][54] It appears to represent over 25% of R1b in Europe.[2]

U106/S21
still un-defined

R-U106* (R-U106-*)


U198

R-M467/S29/U198 (R-U106-1)


DYS439(null)/L1/S26

R-L1/S26 (R-U106-3)


L48

R-L48* (R-U106-4*)


L47

R-L47* (R-U106-4a*)


L44

R-L44* (R-U106-4a1*)



R-L45 and L46 and L146 (R-U106-4a1a1)



R-Z159 (R-U106-4a2)




L148

R-L148 (R-U106-4b)



L257

R-L257 (R-U106-8)



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.[35][54]

Population Sample size R-M269 R-U106 R-U106-1
Austria [35] 22 27% 23% 0.0%
Central/South America [35] 33 0.0% 0.0% 0.0%
Czech Republic [35] 36 28% 14% 0.0%
Denmark [35] 113 34% 17% 0.9%
Eastern Europe[35] 44 5% 0.0% 0.0%
England[35] 138 57% 20% 1.4%
France[35] 56 52% 7% 0.0%
Germany[35] 332 43% 19% 1.8%
Ireland[35] 102 80% 6% 0.0%
Italy[35] 284 37% 4% 0.0%
Jordan[35] 76 0.0% 0.0% 0.0%
Middle-East[35] 43 0.0% 0.0% 0.0%
Netherlands[35] 94 54% 35% 2.1%
Oceania[35] 43 0.0% 0.0% 0.0%
Oman[35] 29 0.0% 0.0% 0.0%
Pakistan[35] 177 3% 0.0% 0.0%
Palestine[35] 47 0.0% 0.0% 0.0%
Poland[35] 110 23% 8% 0.0%
Russia[35] 56 21% 5.4% 1.8%
Slovenia[35] 105 17% 4% 0.0%
Spain 164 42% 8% 0.0%
Switzerland[35] 90 58% 13% 0.0%
Turkey[35] 523 14% 0.4% 0.0%
Ukraine[35] 32 25% 9% 0.0%
United States[35] 58 5% 5% 0.0%
US (European) 125 46% 15% 0.8%
US (Afroamerican) 118 14% 2.5% 0.8%
R1b1a2a1a2 (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 website are summarized in the following table.[2] Myres et al. described it distributing from the west of the Rhine basin.[7]

P312
still un-defined

R-P312* (R-P312-*)


M65

R-M65 (R-p312-1)


Z196
still un-defined

R-Z196* (R-P312-2*)



R-M153 (R-P312-2a)


L176.2/S179.2

R-M167/SRY2627 (R-P312-2b1)



R-L165/S68 (R-P312-2b2)




U152/S28
still un-defined

R-U152* (R-P312-3*)


L2/S139

R-L2* (R-P312-3c*)



R-L20 (R-P312-3c1)




L21/S145/M529
still un-defined

R-L21 (or R-M529/S145, L459) R1b1a2a1a2c



R-M37 (R-P312-4a)



DF13==R-M222 (R-P312-4b) (Niall Noígíallach)



still un-defined

R-DF1/L513/S215* (R-P312-4c*)



R-P66 (R-P312-4c1)



R-L193/S176 (R-P312-4c2)




DF13==R-L96 (R-P312-4d)



DF13==R-L144/S175 (R-P312-4e)



DF13==R-Z255===L159.2/S169.2====Z16433 (R-P312-4f) R-Z255===CTS12583/S3802



DF13==R-L226/S168 (R-P312-4g)



still un-defined

R-DF21/S192* (R-P312-4h*)



R-P314.2 (R-P312-4h1)



R-Z246 (R-P312-4h2)



R-L720 (R-P312-4h3)




R-L371 Wales (R-P312-4i)



R-L554 (R-P312-4j)




R-L238/S182 (R-P312-5)



R-DF19 (R-P312-6)



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

R-P312-2 (R-Z196) unites several branches of R-P312:-

  • R-P312-2a (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,[51][55] though is also found occasionally among Iberians in general. The first time it was located (Bosch 2001[56]) it was described as H102 and included 7 Basques and one Andalusian.
  • R-P312-2b (R-L176.2) 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.[57] 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[58] 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.[56] Further regional studies have located it in significant amounts in Asturias, Cantabria and Galicia, as well as again among Basques.[56] Cases in the Azores have also been reported.[citation needed] In 2008 two research papers by López-Parra[55] and Adams,[51] 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%.[59]
  • R-P312-2b2 (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 Western Isles). It has been suggested, therefore, that it arrived in the British Isles with Vikings.[60]

R-P312-3 (R-U152) is defined by the presence of the marker U152, also called S28.[2] Its discovery was announced in 2005 by EthnoAncestry[61] and subsequently identified independently by Sims et al. (2007).[54] 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."[35] Similarly Cruciani et al. reported frequency peaks in Northern Italy and France.[62] Out of a sample of 135 men in Tyrol, Austria, 9 tested positive for U152/S28.[63] 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.[7]

R-P312-4 (R-L21) is defined by the presence of the marker L21, also referred to as M529 and S145.[2] Myres et al. report it is most common in England and Ireland (25-50% of the whole male population).[7] Known sub-clades include the following:-

  • R-P312-4b (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.[40] However it is not restricted to the Uí Néill as it is also associated with the closely related Connachta dynasties, the Uí Briúin and Uí Fiachrach.[64] 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.[40][65] Those areas settled by large numbers of Irish and Scottish emigrants such as North America have a substantial percentage of M222.[40]
  • R-P312-4f (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 also exists inside haplogroup I2a1 (L159.1). L159.2 appears to be associated with the Kings of Leinster and Diarmait Mac Murchada. It can also 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.[66]
  • R-P312-4g (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-P312-4h (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.[67]
  • 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.[68]

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.[1] The M335 marker was first published in 2004, when one example was discovered in Turkey, which was classified at that time as R1b4.[4]

R1b1c (R-V88)[edit]

R1b1c (formerly R1b1a) is defined by the presence of SNP marker V88, the discovery of which was announced in 2010 by Cruciani et al.[23] Apart from individuals in southern Europe and Western Asia, the majority of R-V88 was found in northern and central Africa:

Region Population Country Language N Total% R1b1c (R-V88) R1b1a2 (R-M269) R1b1c* (R-V88*) R1b1c4 (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 Yorubad 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 Foulbe 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
M343
still un-defined

R-M343* (R1b*)


P25
still un-defined

R-P25* (R1b1*)


V88
still un-defined

R-V88* (R1b1c*)


M18

R-M18 (R1b1c1)


V8

R-V8 (R1b1c2)


V35

R-V35 (R1b1c3)


V69

R-V69 (R1b1c4)




R-P297 (R1b1a)




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.[21][69]

Suggestive results from other studies which did not test for the full range of new markers discovered by Cruciani et al. have also been reported, which might be in R-V88.

  • Wood et al. reported high frequencies of men who were P25 positive and M269 negative, amongst the same north Cameroon area where Cruciani et al. reported high R-V88 levels. However they also found such cases amongst 3% (1/32) of Fante from Ghana, 9% (1/11) of Bassa from southern Cameroon, 4% (1/24) of Herero from Namibia, 5% (1/22) of Ambo from Namibia, 4% (4/92) of Egyptians, and 4% (1/28) of Tunisians.[21]
  • Luis et al. found the following cases of men M173 positive (R1), but negative for M73 (R1b1b1), M269 (R1b1b2), M18 (R1b1a1, a clade with V88, M18 having been discovered before V88) and M17 (R1a1a): 1 of 121 Omanis, 3 of 147 Egyptians, 2 of 14 Bantu from southern Cameroon, and 1 of 69 Hutu from Rwanda.[70]
  • Pereira et al. (2010) in a study of several Saharan Tuareg populations, found one third of 31 men tested from near Tanut in Niger to be in R1b.[71]

R1b1c1 (R-M18)[edit]

R1b1c1 is a sub-clade of R-V88 which is defined by the presence of SNP marker M18.[1] It has been found only at low frequencies in samples from Sardinia[26][72] and Lebanon.[73]

M73[edit]

Y-chromosomes known as R1b-M73 first appeared in the Literature of Sengupta et al in 2006 among 5 out of 25 Hazaras.[74] R1b-m73 was the sole type of R1b found in the Kumandin and a dominant clade in the South eastern Bashkirs. However a recent 2010 study by Behar et al showed that these same 5 Hazara did not belong to R1b but to R2 or Q, if this study by Behar is right than the Kumandins have no R1b. Ironically the Bashkirs still have a high percent of R1b (mostly-u152) even though some of the southern Bashkirs had mislabled Q which appeared to be R1b due to confusion between Q1a-m25 and R1b-p25 . If Behar et al is right about m73, then the Southeastern Bashkirs have both R1b and Q while all the other Bashkirs have a high frequency of R1b while only having 1-2% of Q [75][76]

Historical note[edit]

The DNA tests that assisted in the identification of Czar Nicholas II of Russia found that he had haplogroup R1b.[77]

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.[78]

See also[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
MRC Y-ancestor
A00 A0'1'2'3'4
A0 A1'2'3'4
A1 A2'3'4
A2'3 A4=BCDEF
A2 A3 B CDEF
DE CF
D E C F
GHIJKLT
G HIJKLT
H IJKLT
IJ KLT (K)
I J LT(K1) K (K2)
L T MPS (K2b) X (K2a)
MS P NO
M S QR N O
Q R
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