|Origin-Date:||less than 18,500 years BP|
|Descendants:||R1b1a (R-P297), R1b1b (R-M335), R1b1c (R-V88)|
|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
3. In some cases, major downstream mutations such as M269 are used to identify R1b, especially in regional or out-of-date studies
|Members:||Western Europe, Northern Cameroon, Hazara, Bashkirs|
In human genetics, Haplogroup R1b is the most frequently occurring Y-chromosome haplogroup in Western Europe, parts of central Eurasia (for example Bashkortostan), 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 South Asia and North Africa. 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 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", "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. 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.
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. Since 2008 it has become increasing necessary to refer to the frequently updated listing made on the ISOGG website.
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. Even earlier research using RFLP genotyping identified two distinct haplotypes within what is now called R1b1b2. 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 R1b1b2, whereas in western Europe "haplotype 15" or "ht15" dominated in frequency.
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.
Early research focused upon Europe. In 2000 Ornella Semino and colleagues argued that R1b had been in Europe before the end of Ice Age, and had spread north from an Iberian refuge after the Last Glacial Maximum. 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. Only Morelli et al have recently attempted to defend a Palaeolithic origin for R1b1b2. 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 is arrival in western Europe.http://www.pnas.org/content/95/15/9053.full.pdf+html
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. 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. 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. 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 earlier or later than the Neolithic.
European R1b is now known to be dominated by R-M269, and the origins of this branch are discussed further in more detail below.
For clarity, the identifiers below are those from both the 2010 and 2011 revisions of the ISOGG tree.
|+ align = Center||Contrasting family trees for R1b|
|2010 ISOGG tree||2011 ISOGG tree|
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%. Two cases were reported in a large study of Turkey. 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, so they are either R1b* or R1a*. Hassan et al. (2008) found an equally surprising 14 out of 26 (54%) of Sudanese Fulani who were M173+ and P25-. Wood et al. report 2 Egyptian cases of R1-M173 which were negative for SRY10831 (R1a1) and P25 (R1b1), out of a sample of 1122 males from various African countries, including 92 from Egypt. 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.
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. As will be discussed below however, in some parts of western and northwestern Europe, R-M269 frequencies can reach even higher levels.
|Africa||Central Sahel Region||461||23.0%||0.0%||23.0%||0.0%||0.0%|
|Europe||North western Europeans||43||55.8%||0.0%||0.0%||55.8%||0.0%|
|Europe||North Eastern Europeans||74||1.4%||0.0%||0.0%||1.4%||0.0%|
|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%|
R1b1*, like R1b* is rare. As mentioned above, examples are described in older articles, for example two in a sample from Turkey, but most cases, especially in Africa, are now thought to be almost mostly in the more recently discovered sub-clade R-V88 (see below). Most or all examples of R1b therefore fall into subclades R1b1a (R-V88) or R1b1b (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. 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. 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 is defined by the presence of SNP marker P297. In 2008 this polymorphism was recognised to combine M73 and M269 into one R1b1a cluster. 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.
R1b1a1 (2011 name) is defined by the presence of SNP marker M73. It has been found at generally low frequencies throughout central Eurasia, but has been found with relatively high frequency among particular populations there including Hazaras in Pakistan (8/25 = 32%); 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%). Four R-M73 men were also found in a 523-person study of Turkey, and one person in a 168-person study of Crete.
In 2010, Myres et al. report that out of 193 R-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."
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%. 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. Notably this Bashkir population also has a high percentage of M269 sister branch M73 at 23.4%. 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.
European R1b is dominated by R-M269. It has been found at generally low frequencies throughout central Eurasia, but with relatively high frequency among Bashkirs of the Perm Region (84.0%). 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 70% in Spain and 60% in France. In south-eastern England the frequency of this clade is about 70%; in parts of the rest of north and western England, Spain, Portugal, Wales and Ireland, it is as high as 90%; and in parts of north-western Ireland it reaches 98%. It is also found in North Africa, where its frequency surpasses 10% in some parts of Algeria.
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.
As discussed above, in articles published around 2000 it was proposed that this clade been in Europe before the last Ice Age, 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. Western European R1b is dominated by R-P310.
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). 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." 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. 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.
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.
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 in Europe, North Africa, the Middle East and Central Asia as far as China and Nepal.
|Wales||National||65||92.3%||Balaresque et al. (2009)|
|Spain||Basques||116||87.1%||Balaresque et al. (2009)|
|Ireland||National||796||85.4%||Moore et al. (2006)|
|Spain||Catalonia||80||81.3%||Balaresque et al. (2009)|
|France||Ile et Vilaine||82||80.5%||Balaresque et al. (2009)|
|France||Haute-Garonne||57||78.9%||Balaresque et al. (2009)|
|England||Cornwall||64||78.1%||Balaresque et al. (2009)|
|France||Loire-Atlantique||48||77.1%||Balaresque et al. (2009)|
|France||Finistère||75||76.0%||Balaresque et al. (2009)|
|France||Basques||61||75.4%||Balaresque et al. (2009)|
|Spain||East Andalucia||95||72.0%||Balaresque et al. (2009)|
|Spain||Castilla La Mancha||63||72.0%||Balaresque et al. (2009)|
|France||Vendée||50||68.0%||Balaresque et al. (2009)|
|France||Baie de Somme||43||62.8%||Balaresque et al. (2009)|
|England||Leicestershire||43||62.0%||Balaresque et al. (2009)|
|Italy||North-East (Ladin)||79||60.8%||Balaresque et al. (2009)|
|Spain||Galicia||88||58.0%||Balaresque et al. (2009)|
|Spain||West Andalucia||72||55.0%||Balaresque et al. (2009)|
|Portugal||South||78||46.2%||Balaresque et al. (2009)|
|Italy||North-West||99||45.0%||Balaresque et al. (2009)|
|Denmark||National||56||42.9%||Balaresque et al. (2009)|
|Netherlands||National||84||42.0%||Balaresque et al. (2009)|
|Italy||North East||67||41.8%||Battaglia et al. (2008)|
|Germany||Bavaria||80||32.3%||Balaresque et al. (2009)|
|Italy||West Sicily||122||30.3%||Di Gaetano et al. (2009)|
|Poland||National||110||22.7%||Myres et al. (2007)|
|Slovenia||National||75||21.3%||Battaglia et al. (2008)|
|Slovenia||National||70||20.6%||Balaresque et al. (2009)|
|Turkey||Central||152||19.1%||Cinnioğlu et al. (2004)|
|Republic of Macedonia||Albanians||64||18.8%||Battaglia et al. (2008)|
|Italy||East Sicily||114||18.4%||Di Gaetano et al. (2009)|
|Crete||National||193||17.0%||King et al. (2008)|
|Italy||Sardinia||930||17.0%||Contu et al. (2008)|
|Iran||North||33||15.2%||Regueiro et al. (2006)|
|Greece||National||171||13.5%||King et al. (2008)|
|Turkey||West||163||13.5%||Cinnioğlu et al. (2004)|
|Turkey||East||208||12.0%||Cinnioğlu et al. (2004)|
|Algeria||Northwest (Oran area)||102||11.8%||Robino et al. (2008)|
|Russia||Roslavl||107||11.2%||Balanovsky et al. (2008)|
|Iraq||National||139||10.8%||Al-Zahery et al. (2003)|
|Nepal||Newar||66||10.60%||Gayden et al. (2007)|
|Serbia||National||100||10.0%||Belaresque et al. (2009)|
|Tunisia||Tunis||139||7.2%||Adams et al. (2008)|
|Algeria||Algiers, Tizi Ouzou||46||6.5%||Adams et al. (2008)|
|Bosnia-Herzegovina||Serb||81||6.2%||Marjanovic et al. (2005)|
|Iran||South||117||6.0%||Regueiro et al. (2006)|
|Russia||Repievka||96||5.2%||Balanovsky et al. (2008)|
|UAE||164||3.7%||Cadenas et al. (2007)|
|Bosnia-Herzegovina||Bosniak||85||3.5%||Marjanovic et al. (2005)|
|Pakistan||176||2.8%||Sengupta et al. (2006)|
|Russia||Belgorod||143||2.8%||Balanovsky et al. (2008)|
|Russia||Ostrov||75||2.7%||Balanovsky et al. (2008)|
|Russia||Pristen||45||2.2%||Balanovsky et al. (2008)|
|Bosnia-Herzegovina||Croat||90||2.2%||Marjanovic et al. (2005)|
|Qatar||72||1.4%||Cadenas et al. (2007)|
|China||128||0.8%||Sengupta et al. (2006)|
|India||various||728||0.5%||Sengupta et al. (2006)|
|Croatia||Osijek||29||0.0%||Battaglia et al. (2008)|
|Yemen||62||0.0%||Cadenas et al. (2007)|
|Tibet||156||0.0%||Gayden et al. (2007)|
|Nepal||Tamang||45||0.0%||Gayden et al. (2007)|
|Nepal||Kathmandu||77||0.0%||Gayden et al. (2007)|
|Japan||23||0.0%||Sengupta et al. (2006)|
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.
|Population||Sample size||R-M269||R-U106 (without U198)||R-U198|
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. Myres et al. described it distributing from the west of the Rhine basin.
Amongst these, scientific publications have given interpretation and comment on several:-
R1b1a2a1a1b2 (R-Z196) unites several branches of R-P312:-
See also: Haplogroup R1b1b2a1a2c (Y-DNA).
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. 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 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%), Spanish (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. Further regional studies have located it in significant amounts in Asturias, Cantabria and Galicia, as well as again among Basques. Cases in the Azores have also been reported. In 2008 two research papers by López-Parra and Adams, 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%.
R1b1a2a1a1b3 (R-U152) is defined by the presence of the marker U152, also called S28. Its discovery was announced in 2005 by EthnoAncestry and subsequently identified independently by Sims et al. (2007). 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." Similarly Cruciani et al. reported frequency peaks in Northern Italy and France. Out of a sample of 135 men in Tyrol, Austria, 9 tested positive for U152/S28. 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.
R1b1a2a1a1b4 (R-L21) is defined by the presence of the marker L21, also referred to as M529 and S145. Myres et al. report it is most common in England and Ireland (25-50% of the whole male population). Known sub-clades include the following:-
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 R1b1b is uncertain. The M335 marker was first published in 2004, when one example was discovered in Turkey, which was classified at that time as R1b4.
R1b1c (formerly R1b1a) is defined by the presence of SNP marker V88, the discovery of which was announced in 2010 by Cruciani et al. 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*)||R1b1a4 (R-V69)|
|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||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||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%|
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.
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.