Haplogroup R1b

Haplogroup R1b
Possible place of origin

Western Asia[1]

or Central Asia[2]
Ancestor R1
Descendants

One immediate descendant:

  • R1b1 (L278, M415, P25). Two secondary descendants:
    • R1b1a (L754, PF6269, YSC0000022)
    • R1b1b (PH155)
Defining mutations M343

Haplogroup R1b (R-M343), 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 (e.g. the Bashkir minority) and Central Africa (e.g. Chad and Cameroon). The clade is also present at lower frequencies throughout Eastern Europe, Western Asia, as well as parts of North Africa and Central Asia. 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.

R1b has one primary branch, R1b1 (L278), which in turn has two primary branches: R1b1a (L754) and R1b1b (PH155). R1b1a is found mostly in Western Europe, although the Fula and Chadic-speaking peoples of Africa are dominated by R1b1a2 (PF6279/V88). 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. Western Europe is dominated by the downstream subclades of R1b1a – especially R1b1a1a2 (R-M269; known previously as R1b1a2).

According to autosomal DNA studies the majority of modern R1b and R1a would have expanded from the Caspian Sea along with the Indo European languages.[3][4][5][6][7]

Origin and dispersal

Genetic studies performed since 2015 have revealed that Indo-European languages spread throughout Europe from the Eurasian steppes and that the Yamna culture were Proto-Indo-Europeans.

The age of R1* was estimated by Tatiana Karafet et al. (2008) at between 12,500 and 25,700 BP, and most probably occurred about 18,500 years ago.[8] Since the earliest known example has been dated at circa 14,000 BP, and belongs to R1b1a (R-L754),[9] R1b must have arisen relatively soon after the emergence of R1*.

The oldest human remains found to carry R1b include:

  • a male known as Villabruna 1 (a.k.a. I9030 or 1,215,433), within an Epigravettian culture in the Cismon valley (modern Veneto, Italy), who lived circa 14,000 years BP and reportedly belonged to R1b1a (R-L754),[9]
  • numerous individuals from the Mesolithic Iron Gates culture of the central Danube (modern Romania and Serbia), dating from 10,000 to 8,500 BP – most of these males fall into R1b1a (L754);[10]
  • two individuals, dating from circa 7,800–6,800 BP, found at the Zvejnieki burial ground, belonging to the Narva culture of the Baltic neolithic, both determined to belong to the R1b1b (PH155) subclade,[11] and;
  • a male commonly referred to as the "Samara hunter-gatherer" (I0124; SVP44; M340431), who lived approximately 7,500 BP in the Volga River area, who carried R1b1* (R-L278*).[12]

The point of origin of R1b is thought to lie in Western Eurasia, most likely in Western Asia.[13] R1b is a subclade within the "macro-haplogroup" Haplogroup K (K-M9), which is one of the predominant groupings of all the rest 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) "rapid diversification process of K-M526 likely occurred in Southeast Asia, with subsequent westward expansions of the ancestors of haplogroups R and Q".[14]

Three autosomal 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 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.[3][4][5]

Map of Indo-European migrations from c. 4000 to 1000 BC according to the Kurgan model. The magenta area corresponds to the assumed urheimat (Samara culture, Sredny Stog culture).

Early research into the origins of R1b focused on 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.[15] 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.[13][16][17][18] On the other hand, Morelli et al. in 2010 attempted to defend a Palaeolithic origin for R1b1b2.[19] 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.[20] Summing up, 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.[21]

However, as Barbara Arredi and colleagues were the first to point out, 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.[18] 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.[22] The proposal of a southeastern origin of R1b was 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.[13][16][23]

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 the Hallstatt culture, but more probably Late Neolithic.[13] They noted that "direct evidence from ancient DNA" may be needed to resolve these gene flows.[13] 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.[24] 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.[25][26]

Olalde et al. (2017) trace the spread of haplogroup R1b in western Europe, particularly Britain, to the spread of the Beaker culture nearly 5,000 years BP during the early Bronze Age.[27] In the 2016 Nature article "The genetic history of Ice Age Europe",[28] an individual known as Villabruna 1 from an Epigravettian cultural context in Italy is mentioned, who lived circa 14,000 BP and reportedly belonged to Y-DNA group R1b1.

Linguistics

One of the highest levels of R1b is found among the Basques, who speak a non-Indo-European language isolate.

Structure

External phylogeny of R1b

The broader haplogroup R (M207) is a primary subclade of haplogroup P1 (M45) itself a primary branch of P (P295), which is also known as haplogroup K2b2. R-M207 is therefore a secondary branch of K2b (P331), and a direct descendant of K2 (M526).

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". The only living males reported to carry the basal paragroup K2* are indigenous Australians.[14]

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 phylogenetic (i.e. "family tree") 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.[29] 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.[30] (Below is the basic outline of R1b according to the ISOGG Tree as it stood on January 30, 2017.[1])

Basic phylogenetic tree for R1b
 M343/PF6242 

 

R-M343* (R1b*). The only known example is the remains of an individual from the Botai culture (circa 3700–3100 BC; modern Kazakhstan).[2] (See "Geographical distribution" section.)

 
 L278 

 

R-L278* (R1b1*) appears to be extinct. Subclades are found at low levels throughout Western Eurasia.

 
L754/PF6269/YSC0000022

 

R-L754* (R1b1a*). The only known example is also the earliest known individual to carry R1b: "Villabruna 1" (c. 14,000 years BP; Italy)

 
L389/PF6531

 

R-L389* (previously known as R-L388*; R1b1a1*). Appears to be extinct, although its subclades are the most common form of R1b, making it the dominant Y-DNA haplogroup in Western Europe.

 
 P297/PF6398 

 

R-P297* appears to be extinct. However, subclades of R-P297 (R1b1a1a*; previously R1b1a*) are widespread in Western Eurasia.

 
 M73 

R-M73* appears to be extinct and even subclades of R-M73 (R1b1a1a1) are rare and common only in Eastern Europe, Siberia and Central Asia.

 
 M269/PF6517 

R-M269* appears to be extinct. Subclades of R-M269 (R1b1a1a2; previously R1b1a2) are now extremely common throughout Western Europe, but are also found at lower levels in many other parts of Western Eurasia and the Mediterranean. At least one subclade, R-Y35099 appears to be found only in South Asia.[31]

 
 
 V1636

R-V1636* (R1b1a1b*) is rare, but has been found in Bulgaria, Turkey and an individual of unknown descent in Puerto Rico.[32] Any subclades of R-V1636 appear to be extinct or extremely rare.

 
 
 
PH155

R-PH155 (R1b1b). The basal form R-PH155* appears to be extinct. Subclades have been found in individuals from Bahrain, Bhutan, Ladakh, Tajikistan, Turkey, Xinjiang, and Yunnan.

 
 
 

Geographical distribution

R1b* (R-M343*)

No confirmed cases of R1b* (R-M343*) – that is R1b1(xR1b1), also known as R-M343(xL278) – have been reported in peer-reviewed literature.

Likewise no known examples of R1b1*, also known as R-L278* and R-L278(xL754,PH155), have been found.

R-M343(xM73,M269,V88)

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*".[30] 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* (R1b1*), R-L389* (R1b1a1*), R-P297* (R1b1a1a*), R-V1636 (R1b1a1b) or R-PH155 (R1b1b).

The population believed to have the highest proportion of R-M343(xM73,M269,V88) are the Kurds of southeastern Kazakhstan with 13%.[13][33] 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.[34]

It remains a possibility that some, or even most of these cases, may be R-L278* (R1b1*), R-L389* (R1b1a1*), R-P297* (R1b1a1a*), R-V1636 (R1b1a1b), R-PH155 (R1b1b), 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,[35] constituting, in other words, undocumented subclades of R1b. Thus demonstrating the importance of testing for SNPs critical in identifying subclades.

A compilation of previous studies regarding the distribution of R1b can be found in Cruciani et al. (2010).[36] It is summarised in the table following. (It should be noted that Cruciani did not include some studies suggesting even higher frequencies of R1b1a1a2 [R-M269] in some parts of Western Europe.)

Distribution of R-V88, R-M73 and M269
Continent Region Sample size Total R1b R-P25
(unreliable marker for R1b1*)		 R-V88 (R1b1a2) R-M269 (R1b1a1a2) R-M73 (R1b1a1a1)
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)

R1b1* or R-L278* is rare among modern males. However, it has been found in two skeletons from prehistoric Europe: a male from the Mesolithic Samara culture (a pre-Yamna people who lived immediately north of the Caspian Sea) buried in about 5650–5555 BCE, and a male from the early Neolithic Cardial culture, buried in about 5178–5066 BCE at the Els Trocs site in the Pyrenees (modern Aragon, Spain).[37]

Some examples described in older articles, for example two found in Turkey,[29] are now thought to be mostly in the more recently discovered sub-clade R1b1a2 (R-V88). Most examples of R1b therefore fall into subclades R1b1a2 (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.[36] 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.[38] Cases from older studies are mainly from Africa, the Middle East or Mediterranean, and are discussed below as probable cases of R1b1a2 (R-V88).

R1b1a (R-L754)

The only known example of R-L754(xL389,V88. is also the earliest known individual to carry R1b: "Villabruna 1" , who lived circa 14,000 years BP (north east Italy). Villabruna 1 belonged to the Epigravettian culture.

Living individuals positive for L761, an equivalent to L754, have been found at high frequencies among the Toubou population inhabiting Chad (34%).[39]

R1b1a1 (R-L389)

R-L389, also known as R1b1a1 (L388/PF6468, L389/PF6531) appears to be rare or extinct in its basal form. Its subclades are also relatively rare and found in various parts of South West Asia, the Mediterranean basin and continental Europe.

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.[8] 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. 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.[37]

R1b1a1a1 (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.[40] 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 Kumandin of the Altai Republic in Russia.[41] 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. (2011). 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.[40]

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. (2006) might have misidentified Hazara individuals, who instead belonged to "PQR2" as opposed to "R(xR1a)."[42][43][44] However, the assignment of these Hazaras' Y-DNA to the "PQR2" category by Behar et al. (2010) is probably ascribable to the habit that was popular for a while of labeling R-M269 as "R1b" or "R(xR1a)," with any members of R-M343(xM269) being placed in a polyphyletic, catch-all "R*" or "P" category. Myres et al. (2011), Di Cristofaro et al. (2013), and Lippold et al. (2014) all agree that the Y-DNA of 32% (8/25) of the HGDP sample of Pakistani Hazara should belong to haplogroup R-M478/M73.[45][46][47] Likewise, most Bashkir males have been found to belong to U-152 (R1b1a1a2a1a2b) and some, mostly from southeastern Bashkortostan, belonged to Haplogroup Q-M25 (Q1a1b) rather than R1b; contra this, Myres et al. (2011) found a high frequency of R-M73 among their sample of Bashkirs from southeast Bashkortostan (77/329 = 23.4% R1b-M73), in agreement with the earlier study of Bashkirs.[45] Besides the high frequency of R-M73 in southeastern Bashkirs, Myres et al. also reported finding R-M73 in the following samples: 10.3% (14/136) of Balkars from the northwest Caucasus, 9.4% (8/85) of the HGDP samples from northern Pakistan (these are the aforementioned Pakistani Hazaras), 5.8% (4/69) of Karachays from the northwest Caucasus, 2.6% (1/39) of Tatars from Bashkortostan, 1.9% (1/54) of Bashkirs from southwest Bashkortostan, 1.5% (1/67) of Megrels from the south Caucasus, 1.4% (1/70) of Bashkirs from north Bashkortostan, 1.3% (1/80) of Tatars from Kazan, 1.1% (1/89) of a sample from Cappadocia, Turkey, 0.7% (1/141) of Kabardians from the northwest Caucasus, 0.6% (3/522) of a pool of samples from Turkey, and 0.38% (1/263) of Russians from Central Russia.[45]

Besides the aforementioned Pakistani Hazaras, Di Cristofaro et al. (2013) found R-M478/M73 in 11.1% (2/18) of Mongols from central Mongolia, 5.0% (1/20) of Kyrgyz from southwest Kyrgyzstan, 4.3% (1/23) of Mongols from southeast Mongolia, 4.3% (4/94) of Uzbeks from Jawzjan, Afghanistan, 3.7% (1/27) of Iranians from Gilan, 2.5% (1/40) of Kyrgyz from central Kyrgyzstan, 2.1% (2/97) of Mongols from northwest Mongolia, and 1.4% (1/74) of Turkmens from Jawzjan, Afghanistan.[46] 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. (2012). This cluster's most distinctive Y-STR value is DYS390=19.[45]

A Kazakhstani paper published in 2017 found haplogroup R1b-M478 Y-DNA in 3.17% (41/1294) of a sample of Kazakhs from Kazakhstan, with this haplogroup being observed with greater than average frequency among members of the Qypshaq (12/29 = 41.38%), Ysty (6/57 = 10.53%), Qongyrat (8/95 = 8.42%), Oshaqty (2/29 = 6.90%), Kerey (1/28 = 3.57%), and Jetyru (3/86 = 3.49%) tribes.[48] A Chinese paper published in 2018 found haplogroup R1b-M478 Y-DNA in 9.21% (7/76) of a sample of Dolan Uyghurs from Horiqol township, Awat County, Xinjiang.[49]

R1b1a1a2 (R-M269)

Projected spatial frequency distribution within Europe of haplogroup R-M269.[16]

R-M269, or R1b1a1a2 (as of 2017) amongst other names,[50] is now the most common Y-DNA lineage in European males. It is carried by an estimated 110 million males in Europe.[16]

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 (R-Z2103) subclade has been found to be prevalent in ancient DNA associated with the Yamna culture.[37] David Anthony considers the Yamna culture to be the Indo-European Urheimat.[51] According to Haak et al. (2015), a massive migration from the Yamna culture northwards took place ca. 2,500 BCE, accounting for 75% of the genetic ancestry of the Corded Ware culture, noting that R1a and R1b may have "spread into Europe from the East after 3,000 BCE". All the seven Yamna samples belonged to the R1b-M269 subclade.[3]

R-M269 likely originated in Western Asia and was present in Europe by the Neolithic period.[1][13][18][23] The distribution of subclades within Europe is substantially due to the various migrations of the Bronze and Iron Age. 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, 53% in Italy,[13] 45% in Eastern England, 50% in Germany, 50% in the Netherlands, 42% in Iceland, and 43% in Denmark. R-M269 reaches levels as high as 95% in parts of Ireland. It has also been found at lower frequencies throughout central Eurasia,[52] but with relatively high frequency among the Bashkirs of the Perm region (84.0%).[53] This marker is present in China and India at frequencies of less than one percent. In North Africa and adjoining islands, while R-V88 (R1b1a2) 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 (or Bimape), a subgroup of the Guanche.[54] In living males, it peaks in parts of North Africa, especially Algeria, at a rate of 10%.[55] In Sub-Saharan Africa, R-M269 appears to peak in Namibia, at a rate of 8% among Herero males.[56] (The table below lists in more detail the frequencies of M269 in regions in Asia, Europe, and Africa.)

Apart from undiverged, basal R-M269*, there are (as of 2017) two primary branches of R-M269:

  • R-L23 (R1b1a1a2a; L23/PF6534/S141) and
  • R-PF7558 (R1b1a1a2b; PF7558/PF7562.)

R-L23 (Z2105/Z2103; a.k.a. R1b1a1a2a) has been reported among the peoples of the Idel-Ural (by Trofimova et al. 2015): 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.[57]

Subclades within the paragroup R-M269(xL23) – 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%.[13] 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(xM412) also known as R1b1a1a2a(xR1b1a1a2a1) – at rates of 11.4% (Kosovo), 2.4% (Poland) and 2.4% south-east Bashkortostan.[13] (This Bashkir population is also notable for its high level of R-M73 (R1b1a1a1), at 23.4%.[13]) Five individuals out of 110 tested in the Ararat Valley of Armenia belonged to R-M269(xL23) and 36 to R-L23*, with none belonging to known subclades of L23.[58]

In 2009, DNA extracted from the femur bones of 6 skeletons in an early-medieval burial place in Ergolding (Bavaria, Germany) 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.[59]

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:

M269/PF6517

 

R-M269* (R1b1a1a2*)

 
L23/PF6534/S141

 

R-L23* (R1b1a1a2a*)

 
L51/M412/PF6536/S167

 

R-L51*/R-M412* (R1b1a1a2a1*)

 
L151/PF6542

 

R-L151* (R1b1a1a2a1a*)

 
M405/U106/S21

 

R-U106/R-M405/R-S21 (R1b1a1a2a1a1)

 
 
P312/PF6547/S116

R-P312 (R1b1a1a2a1a2)

 
AM01876/S1194

R-S1194 (R1b1a1a2a1a3)

 
A8051

R-A8051 (R1b1a1a2a1a4)

 
 
PF7589/Z2118

R-PF7589 (R1b1a1a2a1b)

 
 
CTS1078/Z2103

R-Z2103 (R1b1a1a2a2)

 
 
PF7558

R-PF7558 (R1b1a1a2b)

 
 

R1b1a1b* (R-V1636*)

R-V1636* is rare, but has been found in Bulgaria and Turkey, as well as an individual of unknown descent in Puerto Rico. There are no known subclades of R-V1636.

R1b1a2* (R-V88)

R1b1a2 (PF6279/V88; previously R1b1c) is defined by the presence of SNP marker V88, the discovery of which was announced in 2010 by Cruciani et al.[36] Apart from individuals in southern Europe and Western Asia, the majority of R-V88 was found in the Sahel 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.[60][61][62][63][56]

Distribution of R1b in Africa
Region Population Country Language N Total% R1b1c (R-V88) R1b1a1a2 (R-M269) R1b1c* (R-V88*) R1b1c3 (R-V69)
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 (North)AA/Chadic1020.0%20.0%0.0%20.0%0.0%
C AfricaFulbeNigeria (North)NC/Atlantic320.0%0.0%0.0%0.0%0.0%
C AfricaYorubaNigeria (South)NC/Defoid214.8%4.8%0.0%4.8%0.0%
C AfricaOuldemeCameroon (Nth)AA/Chadic2295.5%95.5%0.0%95.5%0.0%
C AfricaMadaCameroon (Nth)AA/Chadic1782.4%82.4%0.0%76.5%5.9%
C AfricaMafaCameroon (Nth)AA/Chadic887.5%87.5%0.0%25.0%62.5%
C AfricaGuizigaCameroon (Nth)AA/Chadic977.8%77.8%0.0%22.2%55.6%
C AfricaDabaCameroon (Nth)AA/Chadic1942.1%42.1%0.0%36.8%5.3%
C AfricaGuidarCameroon (Nth)AA/Chadic966.7%66.7%0.0%22.2%44.4%
C AfricaMassaCameroon (Nth)AA/Chadic728.6%28.6%0.0%14.3%14.3%
C AfricaOther ChadicCameroon (Nth)AA/Chadic475.0%75.0%0.0%25.0%50.0%
C AfricaShuwa ArabsCameroon (Nth)AA/Semitic540.0%40.0%0.0%40.0%0.0%
C AfricaKanuriCameroon (Nth)NS/Saharan714.3%14.3%0.0%14.3%0.0%
C AfricaFulbeCameroon (Nth)NC/Atlantic1811.1%11.1%0.0%5.6%5.6%
C AfricaMoundangCameroon (Nth)NC/Adamawa2166.7%66.7%0.0%14.3%52.4%
C AfricaFaliCameroon (Nth)NC/Adamawa4820.8%20.8%0.0%10.4%10.4%
C AfricaTaliCameroon (Nth)NC/Adamawa229.1%9.1%0.0%4.5%4.5%
C AfricaMboumCameroon (Nth)NC/Adamawa90.0%0.0%0.0%0.0%0.0%
C AfricaCompositeCameroon (Sth)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 AfricaComposite—1230.0%0.0%0.0%0.0%0.0%
E AfricaComposite—4420.0%0.0%0.0%0.0%0.0%
S AfricaComposite—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.[56][64]

The findings of a 2012 study did not support an explanation for R-V88 lineages in Central-West Africa by movement of Chadic-speaking people from the North across the Sahara. It was compatible with the reverse, an origin of the V88 lineages in Central-West Africa, followed by migration to North Africa. PMID 22892526

R1b1a2a (R-M18)

R1b1a2a is a sub-clade of R-V88, which is defined by the presence of SNP marker M18.[8] It has been found only at low frequencies in samples from Sardinia[52][65] and Lebanon.[66]

R1b1b (R-PH155)

The other primary branch of R1b1 is R-PH155 (R1b1b), which is extremely rare and defined by the presence of PH155.[67] Living males carrying subclades of R-PH155 have been found in Bahrain, Bhutan, Ladakh, Tajikistan, Turkey, Xinjiang, and Yunnan. ISOGG (2017) cites two primary branches: R-M335 (R1b1b1) and R-PH200 (R1b1b2).

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.[29] Other examples of R-M335 have been reported in a sample of Hui from Yunnan, China[68] and in a sample of people from Ladakh, India.[69] In commercial testing of Y-DNA, R-M335 has been found in individuals who have reported paternal ancestry in Germany and Italy (including Arbëreshë).[70]

Examples of the other subclade of R-PH155, i.e. R1b1b2-PH200, have been found in individuals from Turkey (Konya and Gaziantep, with at least the latter reporting Armenian ethnicity), Bahrain, and Bhutan.[70]

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.[70]

  • 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.[71]
  • DNA tests that assisted in the identification of Czar Nicholas II of Russia found that he belonged to R1b.[72] This may suggest that the later Czars of the House of Romanov, descended in the male line from the House of Holstein-Gottorp (which originated in Schleswig-Holstein) are also members of R1b.

See also

Phylogenetic 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
IJK H
IJ K
I   J     LT [χ 5]       K2 [χ 6]
L     T    K2a [χ 7]        K2b [χ 8]     K2c     K2d K2e [χ 9]  
K-M2313 [χ 10]     K2b1 [χ 11] P [χ 12]
NO   S [χ 13]  M [χ 14]    P1     P2
N O Q R

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  58. ↑ Kristian, J Herrera; Lowery, Robert K; Hadden, Laura (2011). "Haplotype diversity, variance and time estimations for Haplogroup R1b". European Journal of Human Genetics. 20 (3): 313–20. doi:10.1038/ejhg.2011.192. PMC 3286660. PMID 22085901.
  59. ↑ Vanek, Daniel; Saskovat and Koch (June 2009). "Kinship and Y-Chromosome Analysis of 7th Century Human Remains: Novel DNA Extraction and Typing Procedure for Ancient Material". Croatian Medical Journal. 3. 50 (3): 286–295. doi:10.3325/cmj.2009.50.286. PMC 2702742. PMID 19480023.
  60. ↑ Flores et. al. (2005) found that 20 out of all 146 men tested (13.7%) – including 20 out of 45 men tested from the Dead Sea area of Jordan – were positive for M173 (R1), and negative for both the R1a markers SRY10831.2 and M17, as well as P25 (which was later discovered to be an unreliable marker for R1b1), a study indicates that they are R-V88 (later known as R1b1a2). Wood et al. (2005) also reported two Egyptian cases of R1* (R-M173*) that were negative for SRY10831 (R1a1) and the unreliable R1b1 marker P25, out of a sample of 1,122 males from African countries, including 92 from Egypt. Hassan et al. (2008) found an equally surprising 14 out of 26 (54%) of Sudanese Fula people who were M173+ and P25-
  61. ↑ Myres, NM; Rootsi, S; Lin, AA; et al. (January 2011). "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe". Eur. J. Hum. Genet. 19: 95–101. doi:10.1038/ejhg.2010.146. PMC 3039512. PMID 20736979.
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