Haplogroup R1b


Haplogroup R1b, also known as Hg1 and Eu18, is a human Y-chromosome haplogroup.
It is the most frequently occurring paternal lineage in Western Europe, as well as some parts of Russia and Central Africa. The clade is also present at lower frequencies throughout Eastern Europe, Western Asia, as well as parts of North Africa and Central Asia.
R1b has two primary branches: R1b1a-L754 and R1b1b-PH155. R1b1a1a2-M269, which predominates in Western Europe, and R1b1a2-V88, which is common in Central Africa, are both subclades of R1b-L754. R1b1b-PH155 is so rare and widely dispersed that it is difficult to draw any conclusions about its origins. It has been found in Bahrain, Bhutan, Ladakh, Tajikistan, Turkey, and Western China.
According to ancient DNA studies, R1a and the majority of R1b would have expanded from the Caspian Sea along with the Indo-European languages.

Origin and dispersal

The age of R1 was estimated by Tatiana Karafet et al. at between 12,500 and 25,700 BP, and most probably occurred about 18,500 years ago. Since the earliest known example has been dated at circa 14,000 BP, and belongs to R1b1a, R1b must have arisen relatively soon after the emergence of R1.
Early human remains found to carry R1b include:
The point of origin of R1b is thought to lie in Western Eurasia, most likely in Western Asia. R1b is a subclade within the "macro-haplogroup" K, the most common group of human male lines outside of Africa. K is believed to have originated in Asia. Karafet T. et al. "rapid diversification process of K-M526 likely occurred in Southeast Asia, with subsequent westward expansions of the ancestors of haplogroups R and Q".
Three genetic studies in 2015 gave support to the Kurgan hypothesis of Marija Gimbutas regarding the Proto-Indo-European homeland. According to those studies, haplogroups R1b-M269 and R1a, now the most common in Europe would have expanded from the West Eurasian Steppe, along with the Indo-European languages; they also detected an autosomal component present in modern Europeans which was not present in Neolithic Europeans, which would have been introduced with paternal lineages R1b and R1a, as well as Indo-European languages.
from c. 4000 to 1000 BC according to the Kurgan model. The magenta area corresponds to the assumed urheimat.
Analysis of ancient Y-DNA from the remains from early Neolithic Central and North European Linear Pottery culture settlements have not yet found males belonging to haplogroup R1b-M269. Olalde et al. trace the spread of haplogroup R1b-M269 in western Europe, particularly Britain, to the spread of the Beaker culture, with a sudden appearance of many R1b-M269 haplogroups in Western Europe ca. 5000–4500 years BP during the early Bronze Age. In the 2016 Nature article "The genetic history of Ice Age Europe",.
D'Atanasio et al. propose that R1b-V88 originated in Europe about 12 000 years ago and crossed to North Africa by about 8000 years ago; it may formerly have been common in southern Europe, where it has since been replaced by waves of other haplogroups, leaving remnant subclades almost excusively in Sardinia. It first radiated within Africa likely between 7 and 8 000 years ago – at the same time as trans-Saharan expansions within the unrelated haplogroups E-M2 and A-M13 – possibly due to population growth allowed by humid conditions and the adoption of livestock herding in the Sahara. R1b-V1589, the main subclade within R1b-V88, underwent a further expansion around 5500 years ago, likely in the Lake Chad Basin region, from which some lines recrossed the Sahara to North Africa. The DNA sequencing of ancient individuals provides strong evidence for this proposed model of North to South trans-saharan movement: The earliest basal R1b-V88 haplogroups are found in several Eastern European Hunter Gatherers close to 10 000 years ago. The haplogroup then seemingly further spread with the Neolithic Cardial Ware expansion, which established agriculture in the Western Mediterranean around 7500 BP: R1b-V88 haplogroups were identified in ancient Neolithic individuals in central Italy, Iberia and, at a particularly high frequency, in Sardinia. A part of the branch leading to present-day African haplogroups is already derived in some of these ancient Neolithic European individuals, providing further support for a North to South trans-saharan movement.

Structure

External phylogeny of R1b

The broader haplogroup R is a primary subclade of haplogroup P1 itself a primary branch of P, which is also known as haplogroup K2b2. R-M207 is therefore a secondary branch of K2b, and a direct descendant of K2.
There was "an initial rapid diversification" of K-M526, according to Karafet et al., which "likely occurred in Southeast Asia, with subsequent westward expansions of the ancestors of haplogroups R and Q".
;Phylogeny within K2b
Names such as R1b, R1b1 and so on are phylogenetic names which make clear their place within the branching of haplogroups, or the phylogenetic tree. An alternative way of naming the same haplogroups and subclades refers to their defining SNP mutations: for example, R-M343 is equivalent to R1b. Phylogenetic names change with new discoveries and SNP-based names are consequently reclassified within the phylogenetic tree. In some cases, an SNP is found to be unreliable as a defining mutation and an SNP-based name is removed completely. For example, before 2005, R1b was synonymous with R-P25, which was later reclassified as R1b1; in 2016, R-P25 was removed completely as a defining SNP, due to a significant rate of back-mutation.

Geographical distribution

R1b* (R-M343*)

No confirmed cases of R1b* – that is R1b1, also known as R-M343 – have been reported in peer-reviewed literature.
Likewise no known examples of R1b1*, also known as R-L278* and R-L278, have been found.
;R-M343
In early research, because R-M269, R-M73 and R-V88 are by far the most common forms of R1b, examples of R1b were sometimes assumed to signify basal examples of "R1b*". However, while the paragroup R-M343 is rare, it does not preclude membership of rare and/or subsequently-discovered, relatively basal subclades of R1b, such as R-L278*, R-L389*, R-P297*, R-V1636 or R-PH155.
The population believed to have the highest proportion of R-M343 are the Kurds of southeastern Kazakhstan with 13%. However, more recently, a large study of Y-chromosome variation in Iran, revealed R-M343 as high as 4.3% among Iranian sub-populations.
R1b subclades have also been found in Han Chinese from Shandong, Heilongjiang and Gansu provinces.
It remains a possibility that some, or even most of these cases, may be R-L278*, R-L389*, R-P297*, R-V1636, R-PH155, R1b*, R1a*, an otherwise undocumented branch of R1, and/or back-mutations of a marker, from a positive to a negative ancestral state, and hence constitute undocumented subclades of R1b.
A compilation of previous studies regarding the distribution of R1b can be found in Cruciani et al.. It is summarised in the table following.
;Distribution of R-V88, R-M73 and M269
ContinentRegion Sample sizeTotal R1bR-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 Africa1230.0%0.0%0.0%0.0%0.0%
AfricaEastern Africa4420.0%0.0%0.0%0.0%0.0%
AfricaSouthern Africa1050.0%0.0%0.0%0.0%0.0%
EuropeWestern Europeans46557.8%0.0%0.0%57.8%0.0%
EuropeNorth-west Europeans4355.8%0.0%0.0%55.8%0.0%
EuropeCentral Europeans7742.9%0.0%0.0%42.9%0.0%
EuropeNorth Eastern Europeans741.4%0.0%0.0%1.4%0.0%
EuropeRussians606.7%0.0%0.0%6.7%0.0%
EuropeEastern Europeans14920.8%0.0%0.0%20.8%0.0%
EuropeSouth-east Europeans51013.1%0.0%0.2%12.9%0.0%
AsiaWest Asians3285.8%0.0%0.3%5.5%0.0%
AsiaSouth Asians2884.8%0.0%0.0%1.7%3.1%
AsiaSouth-east Asians100.0%0.0%0.0%0.0%0.0%
AsiaNorth-east Asians300.0%0.0%0.0%0.0%0.0%
AsiaEast Asians1560.6%0.0%0.0%0.6%0.0%
TOTAL5326

R1b1 (R-L278)

R-L278 among modern men falls into the R-L754 and R-PH155 subclades, though it is possible some very rare R-L278* may exist as not all examples have been tested for both branches. Examples may also exist in ancient DNA, though due to poor quality it is often impossible to tell whether or not the ancients carried the mutations that define subclades.
Some examples described in older articles, for example two found in Turkey, are now thought to be mostly in the more recently discovered sub-clade R1b1a2. Most examples of R1b therefore fall into subclades R1b1a2 or R1b1a. 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 Mountains 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 R1b1a2.

R1b1a (R-L754)

R-L754 contains the vast majority of R1b. The only known example of R-L754* is also the earliest known individual to carry R1b: "Villabruna 1", who lived circa 14,000 years BP. Villabruna 1 belonged to the Epigravettian culture.

R1b1a1 (R-L389)

R-L389, also known as R1b1a1, contains the very common subclade R-P297 and the rare subclade R-V1636. It is unknown whether all previously reported R-L389* belong to R-V1636 or not.

R1b1a1a (R-P297)

The SNP marker P297 was recognised in 2008 as ancestral to the significant subclades M73 and M269, combining them into one cluster. This had been given the phylogenetic name R1b1a1a.
A majority of Eurasian R1b falls within this subclade, representing a very large modern population. Although P297 itself has not yet been much tested for, the same population has been relatively well studied in terms of other markers. Therefore, the branching within this clade can be explained in relatively high detail below.

R1b1a1a1 (R-M73)

Malyarchuk et al. found R-M73 in 13.2% of Shors, 11.4% of Teleuts, 3.3% of Kalmyks, 3.1% of Khakassians, 1.9% of Tuvinians, and 1.1% of Altaians. The Kalmyks, Tuvinians, and Altaian belong to a Y-STR cluster marked by DYS390=19, DYS389=14-16, and DYS385=13-13.
Dulik et al. found R-M73 in 35.3% of a sample of the Kumandin of the Altai Republic in Russia. Three of these six Kumandins share an identical 15-loci Y-STR haplotype, and another two differ only at the DYS458 locus, having DYS458=18 instead of DYS458=17. This pair of Kumandin R-M73 haplotypes resembles the haplotypes of two Kalmyks, two Tuvinians, and one Altaian whose Y-DNA has been analyzed by Malyarchuk et al.. The remaining R-M73 Kumandin has a Y-STR haplotype that is starkly different from the haplotypes of the other R-M73 Kumandins, resembling instead the haplotypes of five Shors, five Teleuts, and two Khakassians.
While early research into R-M73 claimed that it was significantly represented among the Hazara of Afghanistan and the Bashkirs of the Ural Mountains, this has apparently been overturned. For example, supporting material from a 2010 study by Behar et al. suggested that Sengupta et al. might have misidentified Hazara individuals, who instead belonged to "PQR2" as opposed to "R." However, the assignment of these Hazaras' Y-DNA to the "PQR2" category by Behar et al. is probably ascribable to the habit that was popular for a while of labeling R-M269 as "R1b" or "R," with any members of R-M343 being placed in a polyphyletic, catch-all "R*" or "P" category. Myres et al., Di Cristofaro et al., and Lippold et al. all agree that the Y-DNA of 32% of the HGDP sample of Pakistani Hazara should belong to haplogroup R-M478/M73. Likewise, most Bashkir males have been found to belong to U-152 and some, mostly from southeastern Bashkortostan, belonged to Haplogroup Q-M25 rather than R1b; contra this, Myres et al. found a high frequency of R-M73 among their sample of Bashkirs from southeast Bashkortostan, in agreement with the earlier study of Bashkirs. Besides the high frequency of R-M73 in southeastern Bashkirs, Myres et al. also reported finding R-M73 in the following samples: 10.3% of Balkars from the northwest Caucasus, 9.4% of the HGDP samples from northern Pakistan, 5.8% of Karachays from the northwest Caucasus, 2.6% of Tatars from Bashkortostan, 1.9% of Bashkirs from southwest Bashkortostan, 1.5% of Megrels from the south Caucasus, 1.4% of Bashkirs from north Bashkortostan, 1.3% of Tatars from Kazan, 1.1% of a sample from Cappadocia, Turkey, 0.7% of Kabardians from the northwest Caucasus, 0.6% of a pool of samples from Turkey, and 0.38% of Russians from Central Russia.
Besides the aforementioned Pakistani Hazaras, Di Cristofaro et al. found R-M478/M73 in 11.1% of Mongols from central Mongolia, 5.0% of Kyrgyz from southwest Kyrgyzstan, 4.3% of Mongols from southeast Mongolia, 4.3% of Uzbeks from Jawzjan, Afghanistan, 3.7% of Iranians from Gilan, 2.5% of Kyrgyz from central Kyrgyzstan, 2.1% of Mongols from northwest Mongolia, and 1.4% of Turkmens from Jawzjan, Afghanistan. The Mongols as well as the individual from southwest Kyrgyzstan, the individual from Gilan, and one of the Uzbeks from Jawzjan belong to the same Y-STR haplotype cluster as five of six Kumandin members of R-M73 studied by Dulik et al.. This cluster's most distinctive Y-STR value is DYS390=19.
Karafet et al. found R-M73 in 37.5% of a sample of Teleuts from Bekovo, Kemerovo oblast, 4.5% of a sample of Uyghurs from Xinjiang Uyghur Autonomous Region, 3.4% of a sample of Kazakhs from Kazakhstan, 2.3% of a sample of Selkups, 2.3% of a sample of Turkmens from Turkmenistan, and 0.7% of a sample of Iranians from Iran. Four of these individuals appear to belong to the aforementioned cluster marked by DYS390=19 ; the Teleut and the Uyghur also share the modal values at the DYS385 and the DYS389 loci. The Iranian differs from the modal for this cluster by having 13-16 at DYS389 instead of 14-16. The Kazakh differs from the modal by having 13–14 at DYS385 instead of 13-13. The other fourteen Teleuts and the three Selkups appear to belong to the Teleut-Shor-Khakassian R-M73 cluster from the data set of Malyarchuk et al. ; this cluster has the modal values of DYS390=22, DYS385=13-16, and DYS389=13-17.
A Kazakhstani paper published in 2017 found haplogroup R1b-M478 Y-DNA in 3.17% of a sample of Kazakhs from Kazakhstan, with this haplogroup being observed with greater than average frequency among members of the Qypshaq, Ysty, Qongyrat, Oshaqty, Kerey, and Jetyru tribes. A Chinese paper published in 2018 found haplogroup R1b-M478 Y-DNA in 9.2% of a sample of Dolan Uyghurs from Horiqol township, Awat County, Xinjiang.

R1b1a1a2 (R-M269)

R-M269, or R1b1a1a2 amongst other names, is now the most common Y-DNA lineage in European males. It is carried by an estimated 110 million males in Europe.
R-M269 has received significant scientific and popular interest due to its possible connection to the Indo-European expansion in Europe. Specifically the R-L23 subclade has been found to be prevalent in ancient DNA associated with the Yamna culture. Seven individuals were determined to belong to the R1b-M269 subclade.
Older research, published before researchers could study the DNA of ancient remains, proposed that R-M269 likely originated in Western Asia and was present in Europe by the Neolithic period. But results based on actual ancient DNA noticed that there was a dearth of R-M269 in Europe before the Bronze Age, and the distribution of subclades within Europe is substantially due to the various migrations of the Bronze and Iron Age. Likewise, the oldest samples classified as belonging to R-M269, have been found in Eastern Europe and Pontic-Caspian steppe, not Western Asia. Western European populations are divided between the R-P312/S116 and R-U106/S21 subclades of R-M412.
Distribution of R-M269 in Europe increases in frequency from east to west. It peaks at the national level in Wales at a rate of 92%, at 82% in Ireland, 70% in Scotland, 68% in Spain, 60% in France, about 60% in Portugal, 45% in Eastern England, 50% in Germany, 50% in the Netherlands, 42% in Iceland, and 43% in Denmark, 39% in Italy.
R-M269 reaches levels as high as 95% in parts of Ireland. It has also been found at lower frequencies throughout central Eurasia, but with relatively high frequency among the Bashkirs of the Perm region. This marker is present in China and India at frequencies of less than one percent. In North Africa and adjoining islands, while R-V88 is more strongly represented, R-M269 appears to have been present since antiquity. R-M269 has been found, for instance, at a rate of ~44% among remains dating from the 11th to 13th centuries at Punta Azul, in the Canary Islands. These remains have been linked to the Bimbache, a subgroup of the Guanche. In living males, it peaks in parts of North Africa, especially Algeria, at a rate of 10%. In Sub-Saharan Africa, R-M269 appears to peak in Namibia, at a rate of 8% among Herero males. In western Asia, R-M269 has been reported in 40% of Armenian males.
Apart from undiverged, basal R-M269*, there are two primary branches of R-M269:
R-L23 has been reported among the peoples of the Idel-Ural : 21 out of 58 of Burzyansky District Bashkirs, 11 out of 52 of Udmurts, 4 out of 50 of Komi, 4 out of 59 of Mordvins, 2 out of 53 of Besermyan and 1 out of 43 of Chuvash were R1b-L23.
Subclades within the paragroup R-M269 – that is, R-M269* and/or R-PF7558 – appear to be found at their highest frequency in the central Balkans, especially Kosovo with 7.9%, Macedonia 5.1% and Serbia 4.4%. Unlike most other areas with significant percentages of R-L23, Kosovo, Poland and the Bashkirs of south-east Bashkortostan are notable in having a high percentage of R-L23 also known as R1b1a1a2a – at rates of 11.4%, 2.4% and 2.4% south-east Bashkortostan. Five individuals out of 110 tested in the Ararat Valley of Armenia belonged to R-M269 and 36 to R-L23*, with none belonging to known subclades of L23.
In 2009, DNA extracted from the femur bones of 6 skeletons in an early-medieval burial place in Ergolding dated to around AD 670 yielded the following results: 4 were found to be haplogroup R1b with the closest matches in modern populations of Germany, Ireland and the USA while 2 were in Haplogroup G2a.
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.
The phylogeny of R-M269 according to ISOGG 2017:

R1b1a2 (R-V88)

R1b1a2 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 the Sahel, especially among populations speaking Afroasiatic languages of the Chadic branch.
Studies in 2005–08 reported "R1b*" at high levels in Jordan, Egypt and Sudan. However, subsequent research indicates that the samples concerned most likely belong to the subclade R-V88, which is now concentrated in Sub-Saharan Africa, following migration from Asia.
;Distribution of R1b in Africa
RegionPopulationCountryLanguageNTotal%R1b1c R1b1a1a2 R1b1c* R1b1c3
N AfricaCompositeMoroccoAA3380.0%0.3%0.6%0.3%0.0%
N AfricaMozabite BerbersAlgeriaAA/Berber673.0%3.0%0.0%3.0%0.0%
N AfricaNorthern EgyptiansEgyptAA/Semitic496.1%4.1%2.0%4.1%0.0%
N AfricaBerbers from SiwaEgyptAA/Berber9328.0%26.9%1.1%23.7%3.2%
N AfricaBahariaEgyptAA/Semitic417.3%4.9%2.4%0.0%4.9%
N AfricaGurna OasisEgyptAA/Semitic340.0%0.0%0.0%0.0%0.0%
N AfricaSouthern EgyptiansEgyptAA/Semitic695.8%5.8%0.0%2.9%2.9%
C AfricaSonghaiNigerNS/Songhai100.0%0.0%0.0%0.0%0.0%
C AfricaFulbeNigerNC/Atlantic714.3%14.3%0.0%14.3%0.0%
C AfricaTuaregNigerAA/Berber224.5%4.5%0.0%4.5%0.0%
C AfricaNgambaiChadNS/Sudanic119.1%9.1%0.0%9.1%0.0%
C AfricaHausaNigeria AA/Chadic1020.0%20.0%0.0%20.0%0.0%
C AfricaFulbeNigeria NC/Atlantic320.0%0.0%0.0%0.0%0.0%
C AfricaYorubaNigeria NC/Defoid214.8%4.8%0.0%4.8%0.0%
C AfricaOuldemeCameroon AA/Chadic2295.5%95.5%0.0%95.5%0.0%
C AfricaMadaCameroon AA/Chadic1782.4%82.4%0.0%76.5%5.9%
C AfricaMafaCameroon AA/Chadic887.5%87.5%0.0%25.0%62.5%
C AfricaGuizigaCameroon AA/Chadic977.8%77.8%0.0%22.2%55.6%
C AfricaDabaCameroon AA/Chadic1942.1%42.1%0.0%36.8%5.3%
C AfricaGuidarCameroon AA/Chadic966.7%66.7%0.0%22.2%44.4%
C AfricaMassaCameroon AA/Chadic728.6%28.6%0.0%14.3%14.3%
C AfricaOther ChadicCameroon AA/Chadic475.0%75.0%0.0%25.0%50.0%
C AfricaShuwa ArabsCameroon AA/Semitic540.0%40.0%0.0%40.0%0.0%
C AfricaKanuriCameroon NS/Saharan714.3%14.3%0.0%14.3%0.0%
C AfricaFulbeCameroon NC/Atlantic1811.1%11.1%0.0%5.6%5.6%
C AfricaMoundangCameroon NC/Adamawa2166.7%66.7%0.0%14.3%52.4%
C AfricaFaliCameroon NC/Adamawa4820.8%20.8%0.0%10.4%10.4%
C AfricaTaliCameroon NC/Adamawa229.1%9.1%0.0%4.5%4.5%
C AfricaMboumCameroon NC/Adamawa90.0%0.0%0.0%0.0%0.0%
C AfricaCompositeCameroon NC/Bantu900.0%1.1%0.0%1.1%0.0%
C AfricaBiaka PygmiesCARNC/Bantu330.0%0.0%0.0%0.0%0.0%
W AfricaComposite1230.0%0.0%0.0%0.0%0.0%
E AfricaComposite4420.0%0.0%0.0%0.0%0.0%
S AfricaComposite1050.0%0.0%0.0%0.0%0.0%
TOTAL1822

Two branches of R-V88, R-M18 and R-V35, are found almost exclusively on the island of Sardinia.
As can be seen in the above data table, R-V88 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. On the other hand, Gonzalez et al. found that patterns of diversity in African R1b-V88 did not fit with a movement of Chadic-speaking people from the North across the Sahara to West-Central Africa, but was compatible with the reverse, an origin of the V88 lineages in Central-West Africa, followed by migration to North Africa.

R1b1a2a (R-M18)

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

R1b1b (R-PH155)

The other primary branch of R1b1 is R-PH155, which is extremely rare and defined by the presence of PH155. Living males carrying subclades of R-PH155 have been found in Bahrain, Bhutan, Ladakh, Tajikistan, Turkey, Xinjiang, and Yunnan. ISOGG cites two primary branches: R-M335 and R-PH200.
The defining SNP of R1b1b1, M335, was first documented in 2004, when an example was discovered in Turkey, though it was classified at that time as R1b4. Other examples of R-M335 have been reported in a sample of Hui from Yunnan, China and in a sample of people from Ladakh, India. In commercial testing of Y-DNA, R-M335 has been found in individuals who have reported paternal ancestry in Germany and Italy.
Examples of the other subclade of R-PH155, i.e. R1b1b2-PH200, have been found in individuals from Turkey, Bahrain, and Bhutan.
Other examples of R-PH155, with precise subclade unresolved, have been found in a Tajik in Tajikistan and in a Uyghur in academic studies and in an individual who has reported paternal ancestry in Varanasi, India in commercial testing.

Historic people of R1b

The following are historic people or dynasties that may belong to the R1b haplogroup, as suggested by the testing descendants or other relatives: