Haplogroup R1b

Haplogroup R1b
Possible place of origin Western Asia[1]
Ancestor Haplogroup R1
Descendants One immediate descendant – R1b1 (L278, M415, P25).
Three secondary descendants – R1b1a (R-V88); R1b1b (R-P297); R1b1c (R-M335).
Defining mutations 1. M343 defines R1b in the broadest sense
2. In some cases, major downstream mutations such as M269 – which now defines R1b1b – are used to identify R1b, especially in regional or out-of-date studies.

Haplogroup R1b, also known as haplogroup R-M343, is the most frequently occurring Y chromosome haplogroup in Western Europe, as well as some parts of Russia (the Bashkir minority), Central Asia (e.g. Turkmenistan) 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 South Asia.

While Western Europe is dominated by the downstream subclades of R1b1b – especially R1b1b2 (R-M269) – the Fulɓe and Chadic-speaking peoples of Africa are dominated by the primary branch now known as R1b1a (R-V88). The third primary branch, R1b1c (R-M335), is rare and found mostly in Western Asia.

Nomenclature

"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.[2] From 2002 to 2005, R1b was defined by the presence of the SNP named P25. Names based on SNPs thus remain constant. It is best to quote both.

Before 2008, many different naming schemes existed. See Conversion table for Y chromosome haplogroups. R1b was once known as Hg1 or Eu18.

Origin and dispersal

R1b is a subclade within the much larger Eurasian K2 "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 with all of Haplogroup F-M89, is believed to have originated in Asia.

The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia.[3] T. Karafet et al. (2008) estimated the age of R1, the parent of R1b, as 18,500 years before present.[4]

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.[5] 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.[3][6][7][8] Only Morelli et al. have recently attempted to defend a Palaeolithic origin for R1b1b2.[9] 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.[10] However, 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.[11]

Barbara Arredi and colleagues were the first to point out that 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.[8] 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.[12] 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.[3][6][13] 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.[3] They noted that direct evidence from ancient DNA may be needed to resolve these gene flows.[3] 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.[14] 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.[15][16]

Structure

External phylogeny

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

Internal structure

This is the basic outline of R1b according to the ISOGG Tree as it stood on January 30, 2016.[1]

Basic phylogenetic trees for R1b
2016 ISOGG tree
M343
un-defined

R-M343* (R1b*)


L278
un-defined

R-P25* (R1b1*)


P297
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) Anatolia (Asia Minor)


V88

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




R1b (R-M343)

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%.[3][17] 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 .[19] Hassan et al. (2008) found an equally surprising 14 out of 26 (54%) of Sudanese Fula people 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 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 also possible that some of the rare examples represent a reversion of marker P25 from a positive back to a negative ancestral state.[22] For that reason ISOGG now uses marker L278 to define R1b1.

Frequency table of R1b1 (R-P25) subclades

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
AfricaNorthern Africa6915.9%0.0%5.2%0.7%0.0%
AfricaCentral Sahel Region46123.0%0.0%23.0%0.0%0.0%
AfricaWestern Africa 1230.0%0.0%0.0%0.0%0.0%
AfricaEastern Africa 4420.0%0.0%0.0%0.0%0.0%
AfricaSouthern Africa 1050.0%0.0%0.0%0.0%0.0%
EuropeWestern Europeans 46557.8%0.0%0.0%57.8%0.0%
EuropeNorth western Europeans4355.8%0.0%0.0%55.8%0.0%
EuropeCentral Europeans 7742.9%0.0%0.0%42.9%0.0%
EuropeNorth Eastern Europeans741.4%0.0%0.0%1.4%0.0%
EuropeRussians 606.7%0.0%0.0%6.7%0.0%
EuropeEastern Europeans 14920.8%0.0%0.0%20.8%0.0%
EuropeSouth eastern Europeans 51013.1%0.0%0.2%12.9%0.0%
AsiaWestern Asians 3285.8%0.0%0.3%5.5%0.0%
AsiaSouthern Asians 2884.8%0.0%0.0%1.7%3.1%
AsiaSouth eastern Asians100.0%0.0%0.0%0.0%0.0%
AsiaNorth eastern Asians300.0%0.0%0.0%0.0%0.0%
AsiaEastern Asians 1560.6%0.0%0.0%0.6%0.0%
TOTAL5326

R1b1 (R-P25/L278)

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*.[24] As mentioned above, examples are described in older articles, for example two in a sample from Turkey,[2] 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 Mountains region, who were P25 positive, but M269 negative.[25] Cases from older studies are mainly from Africa, the Middle East or Mediterranean, and are discussed below as probable cases of R1b1c (R-V88).

R1b1a (R-P297)

The SNP marker P297 was recognised in 2008 to combine M73 and M269 into one R1b1a cluster.[4] 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. 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.[24]

R1b1a2 (R-M269)

R-M269 (known since 2011 as R1b1a2) 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%.[3] 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.[3] Notably this Bashkir population also has a high percentage of M269 sister branch M73 at 23.4%.[3] 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.[26]

European R1b is dominated by R-M269. It has been found at generally low frequencies throughout central Eurasia,[27] but with relatively high frequency among the Bashkirs of the Perm region (84.0%) and Baymaksky District (81.0%).[28] 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),[29] the type of R1b found in the recently analyzed Yamna remains of the Samara Oblast and Orenburg Oblast.[24]

The frequency is about 92% in Wales, 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.[30]

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
un-defined

R-M269* (R1b1a2*)


L23
un-defined

R-L23* (R1b1a2a*)


L51
un-defined

R-L51* (R1b1a2a1*)


L51/M412
un-defined

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


L151/P310
un-defined

R-P310/L11* (R1b1a2a1a1*)


U106

R-U106 (R1b1a2a1a1a) Germanic Europe


P312

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


CTS4528

R-CTS4528 (R1b1a2a1a3)




Z2103

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,[31] 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.[1][3][8][13] 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[3][9]). 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 present but in generally much lower levels apart from "an instance of 27% in Switzerland's Upper Rhone Valley."[3] 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.[3] 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.[3]

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.[32]

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
WalesNational6592.3%Balaresque et al. (2009)[6]
SpainBasques11687.1%Balaresque et al. (2009)[6]
IrelandNational79685.4%Moore et al. (2006)[33]
SpainCatalonia8081.3%Balaresque et al. (2009)[6]
FranceIlle-et-Vilaine8280.5%Balaresque et al. (2009)[6]
FranceHaute-Garonne5778.9%Balaresque et al. (2009)[6]
EnglandCornwall6478.1%Balaresque et al. (2009)[6]
FranceLoire-Atlantique4877.1%Balaresque et al. (2009)[6]
ItalyTuscany4276%Di Giacomo et al. (2003)[34]
FranceFinistère7576.0%Balaresque et al. (2009)[6]
FranceBasques6175.4%Balaresque et al. (2009)[6]
ItalyNorth East3073.5%Di Giacomo et al. (2003)[34]
SpainEast Andalucia9572.0%Balaresque et al. (2009)[6]
SpainCastilla La Mancha6372.0%Balaresque et al. (2009)[6]
FranceVendée5068.0%Balaresque et al. (2009)[6]
Dominican RepublicNational2665.4%Bryc et al. (2010)[35]
FranceBaie de Somme4362.8%Balaresque et al. (2009)[6]
EnglandLeicestershire4362.0%Balaresque et al. (2009)[6]
ItalyNorth-East (Ladin)7960.8%Balaresque et al. (2009)[6]
PortugalNational65759.9%Beleza et al. (2006)[36]
ItalyLombardy8059.0%Boattini et al. (2009)[37]
SpainGalicia8858.0%Balaresque et al. (2009)[6]
SpainWest Andalucia7255.0%Balaresque et al. (2009)[6]
PortugalSouth7846.2%Balaresque et al. (2009)[6]
DenmarkNational5642.9%Balaresque et al. (2009)[6]
NetherlandsNational8442.0%Balaresque et al. (2009)[6]
Armenia/TurkeyArarat Valley4137.3%Herrera et al. (2012)[26]
RussiaBashkirs47134.40%Lobov (2009)[28]
ItalyEast Sicily24634.14%Tofanelli et al. (2015)[38]
ItalyWest Sicily68%33.0%Tofanelli et al. (2015)[38]
GermanyBavaria8032.3%Balaresque et al. (2009)[6]
TurkeyLake Van3332.0%Herrera et al. (2012) [26]
ArmeniaGardman3031.3%Herrera et al. (2012) [26]
PolandNational11022.7%Myres et al. (2007)[39]
SloveniaNational7521.3%Battaglia et al. (2008)[40]
SloveniaNational7020.6%Balaresque et al. (2009)[6]
TurkeyCentral15219.1%Cinnioğlu et al. (2004)[2]
Republic of MacedoniaNational6418.8%Battaglia et al. (2008)[40]
CreteNational19317.0%King et al. (2008)[41]
ItalySardinia93017.0%Contu et al. (2008)[42]
TurkeySasun1615.4%Herrera et al. (2012) [26]
IranNorth3315.2%Regueiro et al. (2006)[43]
Moldova26814.6%Varzari (2006)[25]
GreeceNational17113.5%King et al. (2008)[41]
TurkeyWest16313.5%Cinnioğlu et al. (2004)[2]
RomaniaNational5413.0%Varzari (2006)[25]
CroatiaNational8912.4%Battaglia et al. (2008)[40]
TurkeyEast20812.0%Cinnioğlu et al. (2004)[2]
AlgeriaNorthwest (Oran area)10211.8%Robino et al. (2008)[44]
RussiaRoslavl (Smolensk Oblast)10711.2%Balanovsky et al. (2008)[45]
IraqNational13910.8%Al-Zahery et al. (2003)[46]
NepalNewar6610.60%Gayden et al. (2007)[47]
BulgariaNational80810.5%Karachanak et al. (2013)[48]
SerbiaNational10010.0%Belaresque et al. (2009)[6]
TunisiaTunis1397.2%Adams et al. (2008)[49]
AlgeriaAlgiers, Tizi Ouzou466.5%Adams et al. (2008)[49]
Bosnia-HerzegovinaSerbs816.2%Marjanovic et al. (2005)[50]
IranSouth1176.0%Regueiro et al. (2006)[43]
RussiaRepyevka (Voronezh Oblast)965.2%Balanovsky et al. (2008)[45]
UAE1643.7%Cadenas et al. (2007)[51]
Bosnia-HerzegovinaBosniaks853.5%Marjanovic et al. (2005)[50]
Pakistan1762.8%Sengupta et al. (2006)[52]
RussiaBelgorod1432.8%Balanovsky et al. (2008)[45]
RussiaOstrov (Pskov Oblast)752.7%Balanovsky et al. (2008)[45]
RussiaPristen (Kursk Oblast)452.2%Balanovsky et al. (2008)[45]
Bosnia-HerzegovinaCroats902.2%Marjanovic et al. (2005)[50]
Qatar721.4%Cadenas et al. (2007)[51]
China1280.8%Sengupta et al. (2006)[52]
Indiavarious7280.5%Sengupta et al. (2006)[52]
CroatiaOsijek290.0%Battaglia et al. (2008)[40]
Yemen620.0%Cadenas et al. (2007)[51]
Tibet1560.0%Gayden et al. (2007)[47]
NepalTamang450.0%Gayden et al. (2007)[47]
NepalKathmandu770.0%Gayden et al. (2007)[47]
Japan230.0%Sengupta et al. (2006)[52]
R1b1a2a1a1a (R-U106)

This subclade is defined by the presence of the SNP U106, also known as S21 and M405.[1][53] 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.[54] In terms of total population numbers, its epicenter is Central Europe, where it comprises 60% of R1 combined.[54]

U106/S21
un-defined

R-U106* (R-U106-*)


FGC3861

R-FGC3861 (R1b1a2a1a1a)


Z19

R-Z19 (R1b1a2a1a1b)


Z381
S264

R-S264 (R1b1a2a1a1c1)


S499

R-S499 (R1b1a2a1a1c2)


M1994

R-M1994 (R1b1a2a1a1c3)



FGC396

R-FGC396 (R1b1a2a1a1d)


S12025

R-S12025 (R1b1a2a1a1e)



While this sub-clade of R1b is frequently discussed amongst genetic genealogists, the following table represents the peer-reviewed findings published so far in the 2007 articles of Myres et al. and Sims et al.[39][53]

Population Sample size R-M269 R-U106 R-U106-1
Austria [39]2227%23%0.0%
Central/South America [39]330.0%0.0%0.0%
Czech Republic [39]3628%14%0.0%
Denmark [39]11334%17%0.9%
Eastern Europe[39]445%0.0%0.0%
England[39]13857%20%1.4%
France[39]5652%7%0.0%
Germany[39]33243%19%1.8%
Ireland[39]10280%6%0.0%
Italy[37]80242%4%0.0%
Jordan[39]760.0%0.0%0.0%
Middle-East[39]430.0%0.0%0.0%
Netherlands[39]9454%35%2.1%
Oceania[39]430.0%0.0%0.0%
Oman[39]290.0%0.0%0.0%
Pakistan[39]1773%0.0%0.0%
Palestine[39]470.0%0.0%0.0%
Poland[39]11023%8%0.0%
Russia[39]5621%5.4%1.8%
Slovenia[39]10517%4%0.0%
Switzerland[39]9058%13%0.0%
Turkey[39]52314%0.4%0.0%
Ukraine[39]3225%9%0.0%
United States[39] 585%5%0.0%
US (European)12546%15%0.8%
US (Afroamerican)11814%2.5%0.8%
R1b1a2a1a2 (R-P312/S116)

Along with R-U106, R-P312 is one of the most common types of R1b1a2 (R-M269) in Europe. Also known as S116, it has been the subject of significant study concerning its sub-clades, and some of the ones recognized by the ISOGG tree as of December 27, 2015 are summarized in the following table.[1] Myres et al. described it distributing from the west of the Rhine basin.[3]

P312
un-defined

R-P312* (R-P312-*)


DF27

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

R-Z2552 (R-P312-a2)

R-L881 (R-P312-a3)

R-A431 (R-P312-a4)



U152

R-L2 (R-P312-b1)

R-S206 (R-P312-b2)

R-Z56 (R-P312-b3)



L21

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:-

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 been reported. In 2008 two research papers by López-Parra[55] and Adams,[49] 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%.[36]
  • 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.[59]

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[60] and subsequently identified independently by Sims et al. (2007).[53] 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."[39] Similarly Cruciani et al. (2010)[61] reported frequency peaks in Northern Italy and France. Out of a sample of 135 men in Tyrol, Austria, 9 tested positive for U152/S28.[62] 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.[3] 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.[63]

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).[3] Known sub-clades include the following:-

R1b1b (R-M335)

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.[4] The M335 marker was first published in 2004, when one example was discovered in Turkey, which was classified at that time as R1b4.[2]

R1b1c (R-V88)

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*) R1b1c3 (R-V69)
N Africa Composite Morocco AA3380.0%0.3%0.6%0.3%0.0%
N Africa Mozabite Berbers Algeria AA/Berber 673.0%3.0%0.0%3.0%0.0%
N Africa Northern Egyptians Egypt AA/Semitic 496.1%4.1%2.0%4.1%0.0%
N Africa Berbers from Siwa Egypt AA/Berber 9328.0%26.9%1.1%23.7%3.2%
N Africa Baharia Egypt AA/Semitic 417.3%4.9%2.4%0.0%4.9%
N Africa Gurna Oasis Egypt AA/Semitic 340.0%0.0%0.0%0.0%0.0%
N Africa Southern Egyptians Egypt AA/Semitic 695.8%5.8%0.0%2.9%2.9%
C Africa Songhai Niger NS/Songhai 100.0%0.0%0.0%0.0%0.0%
C Africa Fulbe Niger NC/Atlantic 714.3%14.3%0.0%14.3%0.0%
C Africa Tuareg Niger AA/Berber 224.5%4.5%0.0%4.5%0.0%
C Africa Ngambai Chad NS/Sudanic 119.1%9.1%0.0%9.1%0.0%
C Africa Hausa Nigeria (North) AA/Chadic 1020.0%20.0%0.0%20.0%0.0%
C Africa Fulbe Nigeria (North) NC/Atlantic 320.0%0.0%0.0%0.0%0.0%
C Africa Yoruba Nigeria (South) NC/Defoid 214.8%4.8%0.0%4.8%0.0%
C Africa Ouldeme Cameroon (Nth) AA/Chadic 2295.5%95.5%0.0%95.5%0.0%
C Africa Mada Cameroon (Nth) AA/Chadic 1782.4%82.4%0.0%76.5%5.9%
C Africa Mafa Cameroon (Nth) AA/Chadic 887.5%87.5%0.0%25.0%62.5%
C Africa Guiziga Cameroon (Nth) AA/Chadic 977.8%77.8%0.0%22.2%55.6%
C Africa Daba Cameroon (Nth) AA/Chadic 1942.1%42.1%0.0%36.8%5.3%
C Africa Guidar Cameroon (Nth) AA/Chadic 966.7%66.7%0.0%22.2%44.4%
C Africa Massa Cameroon (Nth) AA/Chadic 728.6%28.6%0.0%14.3%14.3%
C Africa Other Chadic Cameroon (Nth) AA/Chadic 475.0%75.0%0.0%25.0%50.0%
C Africa Shuwa Arabs Cameroon (Nth) AA/Semitic 540.0%40.0%0.0%40.0%0.0%
C Africa Kanuri Cameroon (Nth) NS/Saharan 714.3%14.3%0.0%14.3%0.0%
C Africa Fulbe Cameroon (Nth) NC/Atlantic 1811.1%11.1%0.0%5.6%5.6%
C Africa Moundang Cameroon (Nth) NC/Adamawa 2166.7%66.7%0.0%14.3%52.4%
C Africa Fali Cameroon (Nth) NC/Adamawa 4820.8%20.8%0.0%10.4%10.4%
C Africa Tali Cameroon (Nth) NC/Adamawa 229.1%9.1%0.0%4.5%4.5%
C Africa Mboum Cameroon (Nth) NC/Adamawa 90.0%0.0%0.0%0.0%0.0%
C Africa Composite Cameroon (Sth) NC/Bantu 900.0%1.1%0.0%1.1%0.0%
C Africa Biaka Pygmies CAR NC/Bantu 330.0%0.0%0.0%0.0%0.0%
W Africa Composite — 1230.0%0.0%0.0%0.0%0.0%
E Africa Composite — 4420.0%0.0%0.0%0.0%0.0%
S Africa Composite — 1050.0%0.0%0.0%0.0%0.0%
TOTAL1822
V88
un-defined

R-V88* (R1b1c*)


M18

R-M18 (R1b1c1)


V35

R-V35 (R1b1c2)


V69

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.[21][69]

R1b1c1 (R-M18)

R1b1c1 is a sub-clade of R-V88 which is defined by the presence of SNP marker M18.[4] It has been found only at low frequencies in samples from Sardinia[27][70] and Lebanon.[71]

M73

Y-chromosomes known as R1b-M73 first appeared in the literature of Sengupta et al. in 2006 among 5 out of 25 Hazaras.[72] R1b-m73 was the sole type of R1b found in the Kumandin and a dominant clade in the South eastern Bashkirs. However, a 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.[73][74]

Historical note

The DNA tests that assisted in the identification of Czar Nicholas II of Russia found that he had haplogroup R1b.[75]

In popular culture

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.[76]

The R1b-YDNA discussion group [77] is available for updates on the latest research and genetic genealogy.

See also

Evolutionary 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
B CT
DE CF
D E C F
F1 F2 F3 GHIJK
G HIJK
H IJK
IJ K
I J LT [χ 5]  K2
L T NO [χ 6] K2b [χ 7]   K2c K2d K2e [χ 8]
N O K2b1 [χ 9]    P
M S [χ 10] 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. ↑ Haplogroup NO (M214) is also known as Haplogroup K2a (although the present Haplogroup K2e was also previously known as "K2a").
  7. ↑ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  8. ↑ 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).
  9. ↑ Haplogroup K2b1 (P397/P399) is similar to the former Haplogroup MS, but has a broader and more complex internal structure.
  10. ↑ Haplogroup S (S-M230) was previously known as Haplogroup K5.

References

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  66. ↑ "R-L159 Project Goals"
  67. ↑ Wright (2009). "A Set of Distinctive Marker Values Defines a Y-STR Signature for Gaelic Dalcassian Families". Journal of Genetic Genealogy.
  68. ↑ "R-DF21 and Subclades Project".
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  76. ↑ About R1a and R1b from Ural epic story. Artem Lukichev (c)
  77. ↑ http://groups.yahoo.com/neo/groups/R1b-YDNA/info
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