Haplogroup R1b

Haplogroup R1b (R-M343), previously 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 (e.g. the Bashkirs) and across the Sahel in Central Africa, namely: Cameroon, Chad, Guinea, Mauritania, Mali, Niger, Nigeria and Senegal (concentrated in parts of Chad with concentration in the Hausa Tribe and among the Chadic-speaking ethnic groups of Cameroon).

The clade is also present at lower frequencies throughout

R1b has two primary branches: R1b1-L754 and R1b2-PH155. R1b1-L754 has two major subclades: R1b1a1b-M269, which predominates in Western Europe, and R1b1b-V88, which is today common in parts of Central Africa. The other branch, R1b2-PH155, is so rare and widely dispersed that it is difficult to draw any conclusions about its origins. It has been found in Bahrain, India, Nepal, Bhutan, Ladakh, Tajikistan, Turkey, and Western China.

According to ancient DNA studies, most

• BP and belonged to R1b1a.^[1][8]
• Several males of the Iron Gates Mesolithic in the Balkans buried between 11200 and 8200 BP carried R1b1a1a. These individuals were determined to be largely of WHG ancestry, with slight Eastern Hunter-Gatherer (EHG) admixture.^[9]
• Several males of the Mesolithic Kunda culture and Neolithic Narva culture buried in the Zvejnieki burial ground in modern-day Latvia c. 9500–6000 BP carried R1b1b.^[10][11] These individuals were determined to be largely of WHG ancestry, with slight EHG admixture.^[10]
• Several Mesolithic and Neolithic males buried at Deriivka and Vasil'evka in modern-day Ukraine c. 9500-7000 BP carried R1b1a.^[12] These individuals were largely of EHG ancestry, with significant WHG admixture.^[13]
• A WHG male buried at Ostrovul Corbuli, Romania c. 8700 BP carried R1b1c.^[14][15][16]
• A male buried at Lepenski Vir, Serbia c. 8200-7900 BP carried R1b1a.^[17]
• An EHG buried near Samara, Russia 7500 BP carried R1b1a1a.^[18]
• An
  Eneolithic male buried at Khvalynsk, Russia c. 7200-6000 BP carried R1b1a.^[19]
• A
  Epi-Cardial culture,^[20] was found to be a carrier of R1b1.^[21][22][23]
• A Late Chalcolithic male buried in Smyadovo, Bulgaria c. 6500 BP carried R1b1a.^[24]
• An Early Copper Age male buried in Cannas di Sotto, Carbonia, Sardinia c. 6450 BP carried R1b1b2.^[25]
• A male of the Baalberge group in Central Europe buried c. 5600 BP carried R1b1a.^[26]
• A male of the Botai culture in Central Asia buried c. 5500 BP carried R1b1a1 (R1b-M478).^[27]
• 7 males that were tested of the Yamnaya culture were all found to belong to the M269 subclade of haplogroup R1b.^[28]

R1b is a subclade within the "macro-haplogroup" K (M9), the most common group of human male lines outside of Africa. K is believed to have originated in Asia (as is the case with an even earlier ancestral haplogroup, F (F-M89). Karafet T. et al. (2014) suggested that a "rapid diversification process of K-M526 likely occurred in Southeast Asia, with subsequent westward expansions of the ancestors of haplogroups R and Q".^[29] However the oldest example of R* has been found in an Ancient North Eurasian sample from Siberia (Mal'ta boy, 24,000 years ago), and its precursor P1 has been found in another Ancient North Eurasian sample from northern Siberia (Yana RHS) dating from c. 31,600 years ago.^[30]

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 (R1a is also common in South Asia) 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.^[2][3][4]

There was "an initial rapid diversification" of K-M526, according to Karafet et al. (2014), which "likely occurred in Southeast Asia, with subsequent westward expansions of the ancestors of haplogroups R and Q".

Phylogeny within K2b

• P P295/PF5866/S8 (also known as K2b2).
  • P1 M45 (a.k.a.K2b2a)
    • Q M242 (K2b2a1)
    • R M207 (K2b2a2)
      • R1 (M173)
        • R1a (M420)
        • R1b (M343)

Internal structure of R1b

Names such as R1b, R1b1 and so on are

In early research, because R-M269, R-M73 and R-V88 are by far the most common forms of R1b, examples of R1b (xM73, xM269) were sometimes assumed to signify basal examples of "R1b*".[35] However, while the paragroup R-M343 (xM73, M269, V88) is rare, it does not preclude membership of rare and/or subsequently-discovered, relatively basal subclades of R1b, such as R-L278* (R1b*), R-L389* (R1b1a*), R-P297* (R1b1a1*), R-V1636 (R1b1a2) or R-PH155 (R1b2).

The population believed to have the highest proportion of R-M343 (xM73, M269, V88) are the Kurds of southeastern Kazakhstan with 13%.^[41] However, more recently, a large study of Y-chromosome variation in Iran, revealed R-M343 (xV88, M73, M269) as high as 4.3% among Iranian sub-populations.^[42]

It remains a possibility that some, or even most of these cases, may be R-L278* (R1b*), R-L389* (R1b1a*), R-P297* (R1b1a1*), R-V1636 (R1b1a2), R-PH155 (R1b2), R1b* (R-M343*), R1a* (R-M420*), an otherwise undocumented branch of R1 (R-M173), and/or back-mutations of a marker, from a positive to a negative ancestral state,^[43] and hence constitute undocumented subclades of R1b.

A compilation of previous studies regarding the distribution of R1b can be found in Cruciani et al. (2010).^[44] It is summarised in the table following. (Cruciani did not include some studies suggesting even higher frequencies of R1b1a1b [R-M269] in some parts of Western Europe.)

R1b (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,^[34] are now thought to be mostly in the more recently discovered sub-clade R1b1b (R-V88). Most examples of R1b therefore fall into subclades R1b1b (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.^[44] Varzari found 3 cases in Ukraine, in a study of 322 people from the Dniester–Carpathian Mountains region, who were P25 positive, but M269 negative.^[45] Cases from older studies are mainly from Africa, the Middle East or Mediterranean, and are discussed below as probable cases of R1b1b (R-V88).

R1b1 (R-L754)

R-L754 contains the vast majority of R1b. The only known example of R-L754* (xL389, V88) is also the earliest known individual to carry R1b: "

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

A majority of Eurasian R1b falls within this subclade, representing a very large modern population. Although P297 itself has not yet been much tested for, the same population has been relatively well studied in terms of other markers. Therefore, the branching within this clade can be explained in relatively high detail below.

R1b1a1a (R-M73)

Malyarchuk et al. (2011) found R-M73 in 13.2% (5/38) of Shors, 11.4% (5/44) of Teleuts, 3.3% (2/60) of Kalmyks, 3.1% (2/64) of Khakassians, 1.9% (2/108) of Tuvinians, and 1.1% (1/89) of Altaians.^[46] The Kalmyks, Tuvinians, and Altaian belong to a Y-STR cluster marked by DYS390=19, DYS389=14-16 (or 14–15 in the case of the Altaian individual), and DYS385=13-13.

Dulik et al. (2012) found R-M73 in 35.3% (6/17) of a sample of the

Karafet et al. (2018) found R-M73 in 37.5% (15/40) of a sample of Teleuts from Bekovo, Kemerovo oblast, 4.5% (3/66) of a sample of Uyghurs from Xinjiang Uyghur Autonomous Region, 3.4% (1/29) of a sample of Kazakhs from Kazakhstan, 2.3% (3/129) of a sample of Selkups, 2.3% (1/44) of a sample of Turkmens from Turkmenistan, and 0.7% (1/136) of a sample of Iranians from Iran.[52] Four of these individuals (one of the Teleuts, one of the Uyghurs, the Kazakh, and the Iranian) appear to belong to the aforementioned cluster marked by DYS390=19 (the Kumandin-Mongol R-M73 cluster); 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 (or 13–29) at DYS389 instead of 14-16 (or 14–30). 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. (2011); this cluster has the modal values of DYS390=22 (but 21 in the case of two Teleuts and one Khakassian), DYS385=13-16, and DYS389=13-17 (or 13–30, but 14–31 in the case of one Selkup).

A Kazakhstani paper published in 2017 found haplogroup R1b-M478 Y-DNA in 3.17% (41/1294) of a sample of

R-M269, or R1b1a1b (as of 2018) amongst other names,^[55] is now the most common Y-DNA lineage in European males. It is carried by an estimated 110 million males in Europe.^[56]

R-M269 has received significant scientific and popular interest due to its possible connection to the

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.[36]^[41][57][58] But results based on actual ancient DNA noticed that there was a dearth of R-M269 in Europe before the Bronze Age,^[2] 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 (R-L51).

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 (76% in Normandy), about 60% in Portugal,^[41] 50% in Germany, 50% in the Netherlands, 47% in Italy,^[59] 45% in Eastern England and 42% in Iceland. R-M269 reaches levels as high as 95% in parts of Ireland. It has also been found at lower frequencies throughout central

Apart from basal R-M269* which has not diverged, there are (as of 2017) two primary branches of R-M269:

• R-L23 (R1b1a1b1; L23/PF6534/S141) and
• R-PF7558 (R1b1a1b2; PF7558/PF7562.)

R-L23 (Z2105/Z2103; a.k.a. R1b1a1b1) has been reported among the peoples of the

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.

The phylogeny of R-M269 according to ISOGG 2017:

R1b1b (R-V88)

R1b1b (PF6279/V88; previously R1b1a2) is defined by the presence of SNP marker V88, the discovery of which was announced in 2010 by Cruciani et al.^[44] 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.

Based on a detailed phylogenic analysis, D'Atanasio et al. (2018) proposed that R1b-V88 originated in Europe about 12,000 years ago and crossed to North Africa between 8000 and 7000 years ago, during the 'Green Sahara' period. 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.^[70]

Marcus et al. (2020) provide 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 11,000 years ago. The haplogroup then seemingly spread with the expansion of Neolithic farmers, who established agriculture in the Western Mediterranean by around 7500 BP. R1b-V88 haplogroups were identified in ancient Neolithic individuals in Germany, central Italy, Iberia, and, at a particularly high frequency, in Sardinia. A part of the branch leading to present-day African haplogroups (V2197) was already derived in Neolithic European individuals from Spain and Sardinia, providing further support for a North to South trans-Saharan movement.^[71][72][73] European autosomal ancestry, mtDNA haplogroups, and lactase persistence alleles have also been identified in African populations that carry R1b-V88 at a high frequency, such as the Fulani and Toubou.^{[74][75][76][77]} The presence of European Neolithic farmers in Africa is further attested by samples from Morocco dating from c. 5400 BC onwards.^[78][79]

Studies in 2005–08 reported "R1b*" at high levels in Jordan, Egypt and Sudan.^{[80][64][81][note 1]} Subsequent research by Myres et al. (2011) indicates that the samples concerned most likely belong to the subclade R-V88. According to Myres et al. (2011), this may be explained by a back-migration from Asia into Africa by R1b-carrying people.^{[41][note 2]}

Contrary to other studies, Shriner & Rotimi (2018) associated the introduction of R1b into Chad with the more recent movements of Baggara Arabs.^[82]

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.^[64][83]

R1b1b1 (R-M18)

R1b1b1 is a sub-clade of R-V88, which is defined by the presence of SNP marker M18.^[7] It has been found only at low frequencies in samples from Sardinia^[60][84] and Lebanon.^[85]

R1b2 (R-PH155)

R1b2 is extremely rare and defined by the presence of PH155.

The defining SNP of R1b2a, M335, was first documented in 2004, when an example was discovered in Turkey, though it was classified at that time as R1b4.^[34] Other examples of R-M335 have been reported in a sample of Hui from Yunnan, China^[86] and in a sample of people from Ladakh, India.^[87]

In popular culture

• Bryan Sykes, in his 2006 book Blood of the Isles, gives the members – and the notional founding patriarch – of R1b the name "Oisín".
• Stephen Oppenheimer, in his 2007 book Origins of the British, gives the R1b patriarch the Basque name "Ruisko" in honour of what Oppenheimer believed to be the Iberian origin of R1b.
• A filmmaker named Artem Lukichev created (circa 2009) a 14-minute animated film based on a Bashkir epic from the Ural Mountains, relating the epic to the emergence and geographical expansion of R1a and R1b.^[88]
• DNA tests that assisted in the identification of Czar
  House of Holstein-Gottorp (which originated in Schleswig-Holstein
  ) are also members of R1b.

Studies have shown that haplogroup R1b could have a protective effect on the immune system.[90] However, later studies have confirmed that the Y-chromosome has a very limited effect on coronary artery disease (CAD), for example, and that the previously purported link between Y-chromosome haplogroups and health is far from established scientifically.^[91]

See also

Wikimedia Commons has media related to Haplogroup R1b of Y-DNA.

• Atlantic modal haplotype
• Genealogical DNA test
• Y-DNA haplogroups in populations of Europe

Notes

References