Haplogroup R1b

From Wikipedia, the free encyclopedia
  (Redirected from Haplogroup R1b (Y-DNA))
Jump to navigation Jump to search
Haplogroup R1b
Haplogroup R1b (Y-DNA).PNG
Possible place of originWestern Asia[1] or Central Asia[2]
AncestorR1
Descendants
  • R1b1a (L754, PF6269, YSC0000022)
  • R1b1b (PH155)
Defining mutationsM343

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 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 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[edit]

Genetic studies performed since 2015 have revealed that the Yamna culture, thought to have spoken some stage of Proto-Indo-European, carried R1b-L23.

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:

  • Villabruna 1 (individual I9030), found in an Epigravettian culture setting in the Cismon valley (modern Veneto, Italy), who lived circa 14,000 years BP and belonged to R1b-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 them falling into R1b-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 R1b-P297 subclade,[11] and;
  • the "Samara hunter-gatherer" (I0124/SVP44), who lived approximately 7,500 BP in the Volga River area and carried R1b-L278.[12]
  • a sample from the Botai culture of Central Asia (modern Kazakhstan), dated from 5,500 BP and belonged to R1b-M478;[13]

The point of origin of R1b is thought to lie in Western Eurasia, most likely in Western Asia.[14] 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) "rapid diversification process of K-M526 likely occurred in Southeast Asia, with subsequent westward expansions of the ancestors of haplogroups R and Q".[15]

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 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.[16] 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.[14][17][18][19] On the other hand, Morelli et al. in 2010 attempted to defend a Palaeolithic origin for R1b1b2.[20] 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.[21] 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.[22]

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.[19] 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.[23] 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.[14][17][24]

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.[14] They noted that "direct evidence from ancient DNA" may be needed to resolve these gene flows.[14] 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.[25] 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.[26][27]

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.[28] In the 2016 Nature article "The genetic history of Ice Age Europe",[29] 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.

D'Atanasio et al (2018) 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.[30]

Gonzalez et al (2013) suggest that haplogroup V88 may have originated in Central-West Africa.[31] Kivisild (2017)[32] proposes that V88 emerged approximately 18,000 years ago in sub-Saharan Africa.

Structure[edit]

External phylogeny of R1b[edit]

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".

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[edit]

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.[33] 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.[34] (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*). No cases have been reported.

 L278 
PH155

R-PH155 (R1b1b) has been found in individuals from Bahrain, Bhutan, Ladakh, Tajikistan, Turkey, Xinjiang, and Yunnan.

L754/PF6269/YSC0000022
V88

R-V88 (R1b1a2): the most common forms of R1b found among males native to Sub-Saharan Africa, also found rarely elsewhere.

L389/PF6531
 V1636

R-V1636 (R1b1a1b) is rare, but has been found in Bulgaria, Turkey, a Tomsk Tatar, the Italian Province of Salerno, and an individual of unknown descent in Puerto Rico.[35]

 P297/PF6398 
 M73 

Subclades of R-M73 (R1b1a1a1) are rare and common only in Eastern Europe, Siberia and Central Asia.

 M269/PF6517 

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.

Geographical distribution[edit]

R1b* (R-M343*)[edit]

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*".[34] 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%.[14][36] 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.[37]

R1b subclades have also been found in Han Chinese from Shandong, Heilongjiang and Gansu provinces.[38]

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,[39] 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).[40] It is summarised in the table following. (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)
Africa Northern Africa 691 5.9% 0.0% 5.2% 0.7% 0.0%
Africa Central Sahel Region 461 23.0% 0.0% 23.0% 0.0% 0.0%
Africa Western Africa 123 0.0% 0.0% 0.0% 0.0% 0.0%
Africa Eastern Africa 442 0.0% 0.0% 0.0% 0.0% 0.0%
Africa Southern Africa 105 0.0% 0.0% 0.0% 0.0% 0.0%
Europe Western Europeans 465 57.8% 0.0% 0.0% 57.8% 0.0%
Europe North-west Europeans 43 55.8% 0.0% 0.0% 55.8% 0.0%
Europe Central Europeans 77 42.9% 0.0% 0.0% 42.9% 0.0%
Europe North Eastern Europeans 74 1.4% 0.0% 0.0% 1.4% 0.0%
Europe Russians 60 6.7% 0.0% 0.0% 6.7% 0.0%
Europe Eastern Europeans 149 20.8% 0.0% 0.0% 20.8% 0.0%
Europe South-east Europeans 510 13.1% 0.0% 0.2% 12.9% 0.0%
Asia West Asians 328 5.8% 0.0% 0.3% 5.5% 0.0%
Asia South Asians 288 4.8% 0.0% 0.0% 1.7% 3.1%
Asia South-east Asians 10 0.0% 0.0% 0.0% 0.0% 0.0%
Asia North-east Asians 30 0.0% 0.0% 0.0% 0.0% 0.0%
Asia East Asians 156 0.6% 0.0% 0.0% 0.6% 0.0%
TOTAL 5326

R1b1 (R-L278)[edit]

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,[33] 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.[40] Varzari found 3 cases in the Ukraine, in a study of 322 people from the DniesterCarpathian Mountains region, who were P25 positive, but M269 negative.[41] 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)[edit]

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: "Villabruna 1", who lived circa 14,000 years BP (north east Italy). Villabruna 1 belonged to the Epigravettian culture.

R1b1a1 (R-L389)[edit]

R-L389, also known as R1b1a1 (L388/PF6468, L389/PF6531), contains the very common subclade R-P297 and the rare subclade R-V1636. It is unknown whether all previously reported R-L389*(xP297) belong to R-V1636 or not.

R1b1a1a (R-P297)[edit]

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.

R1b1a1a1 (R-M73)[edit]

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.[42] 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.[43] 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.[42]

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)."[44][45][46] 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.[47][48][49] 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.[47] 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.[47]

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.[48] 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.[47]

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.[50] 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 Kazakhs from Kazakhstan, with this haplogroup being observed with greater than average frequency among members of the Qypshaq (12/29 = 41.4%), Ysty (6/57 = 10.5%), Qongyrat (8/95 = 8.4%), Oshaqty (2/29 = 6.9%), Kerey (1/28 = 3.6%), and Jetyru (3/86 = 3.5%) tribes.[51] A Chinese paper published in 2018 found haplogroup R1b-M478 Y-DNA in 9.2% (7/76) of a sample of Dolan Uyghurs from Horiqol township, Awat County, Xinjiang.[52]

R1b1a1a2 (R-M269)[edit]

R-M269, or R1b1a1a2 (as of 2017) amongst other names,[53] is now the most common Y-DNA lineage in European males. It is carried by an estimated 110 million males in Europe.[17]

Projected spatial frequency distribution within Europe of haplogroup R-M269.[17]

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.[54] David Anthony considers the Yamna culture to be the Indo-European Urheimat.[55] 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][14][19][24] 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,[14] 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,[56] but with relatively high frequency among the Bashkirs of the Perm region (84.0%).[57] 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.[58] In living males, it peaks in parts of North Africa, especially Algeria, at a rate of 10%.[59] In Sub-Saharan Africa, R-M269 appears to peak in Namibia, at a rate of 8% among Herero males.[60] In western Asia, R-M269 has been reported in 40% of Assyrian males.[61][verification needed] (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.[62]

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%.[14] 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.[14] (This Bashkir population is also notable for its high level of R-M73 (R1b1a1a1), at 23.4%.[14]) 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.[63]

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.[64]

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)

R1b1a2 (R-V88)[edit]

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.[40] 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.[65][66][67][68][60]

Distribution of R1b in Africa
Region Population Country Language N Total% R1b1c (R-V88) R1b1a1a2 (R-M269) R1b1c* (R-V88*) R1b1c3 (R-V69)
N Africa Composite Morocco AA 338 0.0% 0.3% 0.6% 0.3% 0.0%
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 Baharia Egypt AA/Semitic 41 7.3% 4.9% 2.4% 0.0% 4.9%
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 Songhai Niger NS/Songhai 10 0.0% 0.0% 0.0% 0.0% 0.0%
C Africa Fulbe Niger NC/Atlantic 7 14.3% 14.3% 0.0% 14.3% 0.0%
C Africa Tuareg Niger AA/Berber 22 4.5% 4.5% 0.0% 4.5% 0.0%
C Africa Ngambai Chad NS/Sudanic 11 9.1% 9.1% 0.0% 9.1% 0.0%
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 Yoruba 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 Fulbe 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%
W Africa Composite 123 0.0% 0.0% 0.0% 0.0% 0.0%
E Africa Composite 442 0.0% 0.0% 0.0% 0.0% 0.0%
S Africa Composite 105 0.0% 0.0% 0.0% 0.0% 0.0%
TOTAL 1822
V88
un‑defined

R-V88* (R1b1c*)

M18

R-M18 (R1b1c1)

V35

R-V35 (R1b1c2)

V69

R-V69 (R1b1c3)

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.[60][69] On the other hand, Gonzalez et al (2013) 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.[31]

R1b1a2a (R-M18)[edit]

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[56][70] and Lebanon.[71]

R1b1b (R-PH155)[edit]

The other primary branch of R1b1 is R-PH155 (R1b1b), which is extremely rare and defined by the presence of PH155.[72] 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.[33] Other examples of R-M335 have been reported in a sample of Hui from Yunnan, China[73] and in a sample of people from Ladakh, India.[74] In commercial testing of Y-DNA, R-M335 has been found in individuals who have reported paternal ancestry in Germany and Italy (including Arbëreshë).[75]

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.[75]

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.[75]

In popular culture[edit]

  • 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.[76]
  • DNA tests that assisted in the identification of Czar Nicholas II of Russia found that he belonged to R1b.[77] 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[edit]

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

References[edit]

  1. ^ a b c International Society of Genetic Genealogy (ISOGG) – Y-DNA Haplogroup R and its Subclades
  2. ^ Jeong, Choongwon (2018). "Characterizing the genetic history of admixture across inner Eurasia". bioRxiv 327122. doi:10.1101/327122. Cite journal requires |journal= (help)
  3. ^ a b c Haak, Wolfgang; Lazaridis, Iosif; Patterson, Nick; Rohland, Nadin; Mallick, Swapan; Llamas, Bastien; Brandt, Guido; Nordenfelt, Susanne; Harney, Eadaoin; Stewardson, Kristin; Fu, Qiaomei; Mittnik, Alissa; Bánffy, Eszter; Economou, Christos; Francken, Michael; Friederich, Susanne; Pena, Rafael Garrido; Hallgren, Fredrik; Khartanovich, Valery; Khokhlov, Aleksandr; Kunst, Michael; Kuznetsov, Pavel; Meller, Harald; Mochalov, Oleg; Moiseyev, Vayacheslav; Nicklisch, Nicole; Pichler, Sandra L.; Risch, Roberto; Rojo Guerra, Manuel A.; et al. (2015). "Massive migration from the steppe is a source for Indo-European languages in Europe". bioRxiv. 522 (7555): 013433. arXiv:1502.02783. Bibcode:2015Natur.522..207H. doi:10.1101/013433.
  4. ^ a b Allentoft, Morten E.; Sikora, Martin; Sjögren, Karl-Göran; Rasmussen, Simon; Rasmussen, Morten; Stenderup, Jesper; Damgaard, Peter B.; Schroeder, Hannes; Ahlström, Torbjörn; Vinner, Lasse; Malaspinas, Anna-Sapfo; Margaryan, Ashot; Higham, Tom; Chivall, David; Lynnerup, Niels; Harvig, Lise; Baron, Justyna; Casa, Philippe Della; Dąbrowski, Paweł; Duffy, Paul R.; Ebel, Alexander V.; Epimakhov, Andrey; Frei, Karin; Furmanek, Mirosław; Gralak, Tomasz; Gromov, Andrey; Gronkiewicz, Stanisław; Grupe, Gisela; Hajdu, Tamás; et al. (2015). "Population genomics of Bronze Age Eurasia". Nature. 522 (7555): 167–172. Bibcode:2015Natur.522..167A. doi:10.1038/nature14507. PMID 26062507.
  5. ^ a b Mathieson, Iain; Lazaridis, Iosif; Rohland, Nadin; Mallick, Swapan; Patterson, Nick; Alpaslan Roodenberg, Songul; Harney, Eadaoin; Stewardson, Kristin; Fernandes, Daniel; Novak, Mario; Sirak, Kendra; Gamba, Cristina; Jones, Eppie R.; Llamas, Bastien; Dryomov, Stanislav; Pickrell, Joseph; Arsuaga, Juan Luis; De Castro, Jose Maria Bermudez; Carbonell, Eudald; Gerritsen, Fokke; Khokhlov, Aleksandr; Kuznetsov, Pavel; Lozano, Marina; Meller, Harald; Mochalov, Oleg; Moiseyev, Vayacheslav; Rojo Guerra, Manuel A.; Roodenberg, Jacob; Verges, Josep Maria; et al. (2015). "Eight thousand years of natural selection in Europe". bioRxiv: 016477. doi:10.1101/016477.
  6. ^ Lara M. Cassidy; et al. (2016). "Neolithic and Bronze Age migration to Ireland and establishment of the insular Atlantic genome". PNAS. 113 (2): 368–73. Bibcode:2016PNAS..113..368C. doi:10.1073/pnas.1518445113. PMC 4720318. PMID 26712024.
  7. ^ Rui Martiniano; et al. (2017). "The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods". PLoS Genet. 13 (7): e1006852. doi:10.1371/journal.pgen.1006852. PMC 5531429. PMID 28749934.
  8. ^ a b c Karafet, TM; Mendez, FL; Meilerman, MB; Underhill, PA; Zegura, SL; Hammer, MF (2008). "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree". Genome Research. 18 (5): 830–38. doi:10.1101/gr.7172008. PMC 2336805. PMID 18385274.
  9. ^ a b Fu, Qiaomei; Posth, Cosimo; Hajdinjak, Mateja; Petr, Martin; Mallick, Swapan; Fernandes, Daniel; Furtwängler, Anja; Haak, Wolfgang; Meyer, Matthias; Mittnik, Alissa; Nickel, Birgit; Peltzer, Alexander; Rohland, Nadin; Slon, Viviane; Talamo, Sahra; Lazaridis, Iosif; Lipson, Mark; Mathieson, Iain; Schiffels, Stephan; Skoglund, Pontus; Derevianko, Anatoly P.; Drozdov, Nikolai; Slavinsky, Vyacheslav; Tsybankov, Alexander; Cremonesi, Renata Grifoni; Mallegni, Francesco; Gély, Bernard; Vacca, Eligio; Morales, Manuel R. González; et al. (2016). "The genetic history of Ice Age Europe". Nature. 534 (7606): 200–05. Bibcode:2016Natur.534..200F. doi:10.1038/nature17993. hdl:10211.3/198594. PMC 4943878. PMID 27135931.
  10. ^ I. Mathieson et al. (2017), "The Genomic History of Southeastern Europe", bioRxiv (May 20).
  11. ^ Jones, Eppie R.; Zarina, Gunita; Moiseyev, Vyacheslav; Lightfoot, Emma; Nigst, Philip R.; Manica, Andrea; Pinhasi, Ron; Bradley, Daniel G. (2017). "The Neolithic Transition in the Baltic Was Not Driven by Admixture with Early European Farmers". Current Biology. 27 (4): 576–82. doi:10.1016/j.cub.2016.12.060. PMC 5321670. PMID 28162894.
  12. ^ Haak, W.; Lazaridis, I.; Patterson, N.; Rohland, N.; Mallick, S.; Llamas, B.; Brandt, G.; Nordenfelt, S.; et al. (2015). "Massive migration from the steppe was a source for Indo-European languages in Europe". Nature. 522 (7555): 207–11. arXiv:1502.02783. Bibcode:2015Natur.522..207H. doi:10.1038/nature14317. PMC 5048219. PMID 25731166.
  13. ^ "The first horse herders and the impact of early Bronze Age steppe expansions into Asia" (PDF). Science Magazine. Supplementary Materials.
  14. ^ a b c d e f g h i j k Myres, Natalie; Rootsi, Siiri; Lin, Alice A; Järve, Mari; King, Roy J; Kutuev, Ildus; Cabrera, Vicente M; Khusnutdinova, Elza K; et al. (2010). "A major Y-chromosome haplogroup R1b Holocene effect in Central and Western Europe". European Journal of Human Genetics. 19 (1): 95–101. doi:10.1038/ejhg.2010.146. PMC 3039512. PMID 20736979.
  15. ^ Karafet, Tatiana; Mendez, Fernando; Sudoyo, Herawati (2014). "Improved phylogenetic resolution and rapid diversification of Y-chromosome haplogroup K-M526 in Southeast Asia". Nature. 23 (3): 369–73. doi:10.1038/ejhg.2014.106. PMC 4326703. PMID 24896152.
  16. ^ Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, De Benedictis G, Francalacci P, et al. (2000). "The genetic legacy of paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective". Science. 290 (5494): 1155–59. Bibcode:2000Sci...290.1155S. doi:10.1126/science.290.5494.1155. PMID 11073453.
  17. ^ a b c d Balaresque, Patricia; Bowden, Georgina R.; Adams, Susan M.; Leung, Ho-Yee; King, Turi E.; Rosser, Zoë H.; Goodwin, Jane; Moisan, Jean-Paul; et al. (2010). Penny, David (ed.). "A Predominantly Neolithic Origin for European Paternal Lineages". PLOS Biology. 8 (1): e1000285. doi:10.1371/journal.pbio.1000285. PMC 2799514. PMID 20087410.
  18. ^ Sjödin, Per; François, Olivier (2011). Lalueza-Fox, Carles (ed.). "Wave-of-Advance Models of the Diffusion of the Y Chromosome Haplogroup R1b1b2 in Europe". PLoS ONE. 6 (6:e21592): e21592. Bibcode:2011PLoSO...621592S. doi:10.1371/journal.pone.0021592. PMC 3123369. PMID 21720564.
  19. ^ a b c B. Arredi; E. S. Poloni; C. Tyler-Smith (2007). "The peopling of Europe". In Crawford, Michael H. (ed.). Anthropological genetics: theory, methods and applications. Cambridge, UK: Cambridge University Press. p. 394. ISBN 978-0-521-54697-3.
  20. ^ Morelli, Laura; Contu, Daniela; Santoni, Federico; Whalen, Michael B.; Francalacci, Paolo; Cucca, Francesco (2010). Lalueza-Fox, Carles (ed.). "A Comparison of Y-Chromosome Variation in Sardinia and Anatolia Is More Consistent with Cultural Rather than Demic Diffusion of Agriculture". PLoS ONE. 5 (4): e10419. Bibcode:2010PLoSO...510419M. doi:10.1371/journal.pone.0010419. PMC 2861676. PMID 20454687.
  21. ^ Chikhi, L.; Destro-Bisol, G.; Bertorelle, G.; Pascali, V.; Barbujani, G. (1998). "Clines of nuclear DNA markers suggest a largely Neolithic ancestry of the European gene pool". Proceedings of the National Academy of Sciences. 95 (15): 9053–58. Bibcode:1998PNAS...95.9053C. doi:10.1073/pnas.95.15.9053. PMC 21201. PMID 9671803.
  22. ^ Maglio, Michael R. (2014-08-14). "Biogeographical Evidence for the Iberian Origins of R1b-L278 via Haplotype Aggregation (2014)". Origins DNA. Retrieved 2014-11-12.
  23. ^ Chiaroni, J; Underhill, P; Cavalli-Sforza, L.L. (2009). "Y chromosome diversity, human expansion, drift and cultural evolution". PNAS. 106 (48): 20174–79. Bibcode:2009PNAS..10620174C. doi:10.1073/pnas.0910803106. PMC 2787129. PMID 19920170.
  24. ^ a b Cruciani, Fulvio; Trombetta, Beniamino; Antonelli, Cheyenne; Pascone, Roberto; Valesini, Guido; Scalzi, Valentina; Vona, Giuseppe; Melegh, Bela; et al. (2010). "Strong intra- and inter-continental differentiation revealed by Y chromosome SNPs M269, U106 and U152". Forensic Science International: Genetics. 5 (3): e49–52. doi:10.1016/j.fsigen.2010.07.006. PMID 20732840.
  25. ^ Lee, Esther J.; et al. (3 May 2012). "Emerging genetic patterns of the european neolithic: Perspectives from a late neolithic bell beaker burial site in Germany". American Journal of Physical Anthropology. 148 (4): 571–79. doi:10.1002/ajpa.22074. PMID 22552938.
  26. ^ Lacan, Marie; et al. (May 2, 2011). "Ancient DNA reveals male diffusion through the Neolithic Mediterranean route". Proceedings of the National Academy of Sciences of the United States of America. 108 (24): 9788–91. Bibcode:2011PNAS..108.9788L. doi:10.1073/pnas.1100723108. PMC 3116412. PMID 21628562.
  27. ^ Haak, Wolfgang; et al. (November 2010). Penny, David (ed.). "Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities". PLoS Biology. 8 (11): e1000536. doi:10.1371/journal.pbio.1000536. PMC 2976717. PMID 21085689.
  28. ^ Olalde, Iñigo; Brace, Selina; Allentoft, Morten E.; Armit, Ian; Kristiansen, Kristian; Rohland, Nadin; Mallick, Swapan; Booth, Thomas; Szécsényi-Nagy, Anna; Mittnik, Alissa; Altena, Eveline; Lipson, Mark; Lazaridis, Iosif; Patterson, Nick J.; Broomandkhoshbacht, Nasreen; Diekmann, Yoan; Faltyskova, Zuzana; Fernandes, Daniel M.; Ferry, Matthew; Harney, Eadaoin; De Knijff, Peter; Michel, Megan; Oppenheimer, Jonas; Stewardson, Kristin; Barclay, Alistair; Alt, Kurt W.; Avilés Fernández, Azucena; Bánffy, Eszter; Bernabò-Brea, Maria; et al. (2017). "The Beaker Phenomenon and the Genomic Transformation of Northwest Europe". doi:10.1101/135962. Cite journal requires |journal= (help)
  29. ^ Fu, Qiaomei; Posth, Cosimo; Hajdinjak, Mateja; Petr, Martin; Mallick, Swapan; Fernandes, Daniel; Furtwängler, Anja; Haak, Wolfgang; Meyer, Matthias; Mittnik, Alissa; Nickel, Birgit; Peltzer, Alexander; Rohland, Nadin; Slon, Viviane; Talamo, Sahra; Lazaridis, Iosif; Lipson, Mark; Mathieson, Iain; Schiffels, Stephan; Skoglund, Pontus; Derevianko, Anatoly P.; Drozdov, Nikolai; Slavinsky, Vyacheslav; Tsybankov, Alexander; Cremonesi, Renata Grifoni; Mallegni, Francesco; Gély, Bernard; Vacca, Eligio; Morales, Manuel R. González; et al. (2016). "The genetic history of Ice Age Europe". Nature. 534 (7606): 200–05. Bibcode:2016Natur.534..200F. doi:10.1038/nature17993. PMC 4943878. PMID 27135931.
  30. ^ D'Atanasio; et al. (2018). "The peopling of the last Green Sahara revealed by high-coverage resequencing of trans-Saharan patrilineages". Genome Biology. 19 (20): 20. doi:10.1186/s13059-018-1393-5. PMC 5809971. PMID 29433568.
  31. ^ a b Gonzalez; et al. (2013). "The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88". European Journal of Human Genetics. 21 (3): 324–31. doi:10.1038/ejhg.2012.167. PMC 3573200. PMID 22892526.
  32. ^ Kivisild T. (2017). The study of human Y chromosome variation through ancient DNA. Human genetics, 136(5), 529–46. doi:10.1007/s00439-017-1773-z
  33. ^ a b c Cinnioğlu, C; King, R; Kivisild, T; Kalfoğlu, E; Atasoy, S; Cavalleri, GL; Lillie, AS; Roseman, CC; et al. (2004). "Excavating Y-chromosome haplotype strata in Anatolia" (PDF). Human Genetics. 114 (2): 127–48. doi:10.1007/s00439-003-1031-4. PMID 14586639. Archived from the original (PDF) on 2006-06-19.
  34. ^ a b ISOGG, Y-DNA Haplogroup R and its Subclades – 2016 (8 February 2017).
  35. ^ YFull, R-V1636
  36. ^ Supplementary Table S4 (xls 62K) -> http://www.nature.com/ejhg/journal/v19/n1/suppinfo/ejhg2010146s1.html
  37. ^ PLOS ONE: Ancient Migratory Events in the Middle East: New Clues from the Y-Chromosome Variation of Modern Iranians
  38. ^ G. Lkhagvasuren et al., 2016,"Molecular Genealogy of a Mongol Queen's Family and Her Possible Kinship with Genghis Khan", PLOS 1
  39. ^ Adams, SM; King, TE; Bosch, E; Jobling, MA (2006). "The case of the unreliable SNP: recurrent back-mutation of Y-chromosomal marker P25 through gene conversion". Forensic Science International. 159 (1): 14–20. doi:10.1016/j.forsciint.2005.06.003. hdl:2381/443. PMID 16026953.
  40. ^ a b c Cruciani, F; Trombetta, B; Sellitto, D; Massaia, A; Destro-Bisol, G; Watson, E; Beraud Colomb, E; Dugoujon, JM; et al. (2010). "Human Y chromosome haplogroup R-V88: a paternal genetic record of early mid Holocene trans-Saharan connections and the spread of Chadic languages". European Journal of Human Genetics. 18 (7): 800–07. doi:10.1038/ejhg.2009.231. PMC 2987365. PMID 20051990.
  41. ^ Varzari, Alexander (2006). "Population History of the Dniester-Carpathians: Evidence from Alu Insertion and Y-Chromosome Polymorphisms" (PDF). Dissertation der Fakultät für Biologie der Ludwig-Maximilians-Universität München.
  42. ^ a b Malyarchuk, Boris; Derenko, Miroslava; Denisova, Galina; Maksimov, Arkady; Wozniak, Marcin; Grzybowski, Tomasz; Dambueva, Irina; Zakharov, Ilya (2011). "Ancient links between Siberians and Native Americans revealed by subtyping the y chromosome haplogroup Q1a". Journal of Human Genetics. 56 (8): 583–88. doi:10.1038/jhg.2011.64. PMID 21677663.
  43. ^ Dulik, MC; Zhadanov, SI; Osipova, LP; Askapuli, A; Gau, L; Gokcumen, O; Rubinstein, S; Schurr, TG (2012). "Mitochondrial DNA and Y chromosome variation provides evidence for a recent common ancestry between Native Americans and Indigenous Altaians". Am. J. Hum. Genet. 90 (2): 229–46. doi:10.1016/j.ajhg.2011.12.014. PMC 3276666. PMID 22281367.
  44. ^ Behar, Doron M.; Yunusbayev, Bayazit; Metspalu, Mait; Metspalu, Ene; Rosset, Saharon; Parik, Jüri; Rootsi, Siiri; Chaubey, Gyaneshwer; Kutuev, Ildus; Yudkovsky, Guennady; Khusnutdinova, Elza K.; Balanovsky, Oleg; Semino, Ornella; Pereira, Luisa; Comas, David; Gurwitz, David; Bonne-Tamir, Batsheva; Parfitt, Tudor; Hammer, Michael F.; Skorecki, Karl; Villems, Richard (2010). "The genome-wide structure of the Jewish people" (PDF). Nature. 466 (7303): 238–42. Bibcode:2010Natur.466..238B. doi:10.1038/nature09103. PMID 20531471.
  45. ^ Myres, Natalie M.; Rootsi, Siiri; Lin, Alice A.; Järve, Mari; King, Roy J.; Kutuev, Ildus; Cabrera, Vicente M.; Khusnutdinova, Elza K.; Pshenichnov, Andrey; Yunusbayev, Bayazit; Balanovsky, Oleg; Balanovska, Elena; Rudan, Pavao; Baldovic, Marian; Herrera, Rene J.; Chiaroni, Jacques; Di Cristofaro, Julie; Villems, Richard; Kivisild, Toomas; Underhill, Peter A. (2011). "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe". European Journal of Human Genetics. 19 (1): 95–101. doi:10.1038/ejhg.2010.146. PMC 3039512. PMID 20736979.
  46. ^ Sengupta, S; Zhivotovsky, LA; King, R; et al. (February 2006). "Polarity and temporality of high-resolution y-chromosome distributions in India identify both indigenous and exogenous expansions and reveal minor genetic influence of Central Asian pastoralists". Am. J. Hum. Genet. 78 (2): 202–21. doi:10.1086/499411. PMC 1380230. PMID 16400607.
  47. ^ a b c d Myres, Natalie M.; Rootsi, Siiri; Lin, Alice A.; Järve, Mari; King, Roy J.; Kutuev, Ildus; Cabrera, Vicente M.; Khusnutdinova, Elza K.; Pshenichnov, Andrey; Yunusbayev, Bayazit; Balanovsky, Oleg; Balanovska, Elena; Rudan, Pavao; Baldovic, Marian; Herrera, Rene J.; Chiaroni, Jacques; Di Cristofaro, Julie; Villems, Richard; Kivisild, Toomas; Underhill, Peter A. (2011). "A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe". European Journal of Human Genetics. 19 (1): 95–101. doi:10.1038/ejhg.2010.146. PMC 3039512. PMID 20736979.
  48. ^ a b Di Cristofaro, Julie; Pennarun, Erwan; Mazières, Stéphane; Myres, Natalie M.; Lin, Alice A.; Temori, Shah Aga; Metspalu, Mait; Metspalu, Ene; Witzel, Michael; King, Roy J.; Underhill, Peter A.; Villems, Richard; Chiaroni, Jacques (2013). "Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge". PLOS ONE. 8 (10): e76748. Bibcode:2013PLoSO...876748D. doi:10.1371/journal.pone.0076748. PMC 3799995. PMID 24204668.
  49. ^ Lippold, Sebastian; Xu, Hongyang; Ko, Albert; Li, Mingkun; Renaud, Gabriel; Butthof, Anne; Schröder, Roland; Stoneking, Mark (2014). "Human paternal and maternal demographic histories: Insights from high-resolution y chromosome and mtDNA sequences". Investigative Genetics. 5: 13. doi:10.1186/2041-2223-5-13. PMC 4174254. PMID 25254093.
  50. ^ Karafet, Tatiana M.; Osipova, Ludmila P.; Savina, Olga V.; Hallmark, Brian; Hammer, Michael F. (2018). "Siberian genetic diversity reveals complex origins of the Samoyedic-speaking populations". American Journal of Human Biology. 30 (6): e23194. doi:10.1002/ajhb.23194. PMID 30408262.
  51. ^ E. E. Ashirbekov, D. M. Botbaev, A. M. Belkozhaev, A. O. Abayldaev, A. S. Neupokoeva, J. E. Mukhataev, B. Alzhanuly, D. A. Sharafutdinova, D. D. Mukushkina, M. B. Rakhymgozhin, A. K. Khanseitova, S. A. Limborska, N. A. Aytkhozhina, "Distribution of Y-Chromosome Haplogroups of the Kazakh from the South Kazakhstan, Zhambyl, and Almaty Regions." Reports of the National Academy of Sciences of the Republic of Kazakhstan, ISSN 2224-5227, Volume 6, Number 316 (2017), 85–95.
  52. ^ Liu SH, N, Yilihamu, R Bake, et al. (2018), "A study of genetic diversity of three isolated populations in Xinjiang using Y-SNP." Acta Anthropologica Sinica, 2018, 37(1): 146–56. doi:10.16359/j.cnki.cn11-1963/q.2017.0067
  53. ^ R1b1a1a2 (R-M269) was previously R1b1a2, 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.
  54. ^ Haak, Wolfgang; Lazaridis, Iosif (February 10, 2015). "Massive migration from the steppe is a source for Indo-European languages in Europe". bioRxiv 013433.
  55. ^ Anthony, David W. (2007). The Horse The Wheel And Language. How Bronze-Age Riders From the Eurasian Steppes Shaped The Modern World. Princeton University Press.
  56. ^ a b Peter A. Underhill, Peidong Shen, Alice A. Lin et al., "Y chromosome sequence variation and the history of human populations", Nature Genetics, Volume 26, November 2000
  57. ^ A. S. Lobov; et al. (2009). "Structure of the Gene Pool of Bashkir Subpopulations" (PDF) (in Russian). Archived from the original (PDF) on 2011-08-16.
  58. ^ Ordóñez, A. C.; Fregel, R.; Trujillo-Mederos, A.; Hervella, M.; de-la-Rúa, C.; Arnay-de-la-Rosa, M. (2017). "Genetic studies on the prehispanic population buried in Punta Azul cave (El Hierro, Canary Islands)". Journal of Archaeological Science. 78: 20–28. doi:10.1016/j.jas.2016.11.004.
  59. ^ Robino, C; Crobu, F; Di Gaetano, C; Bekada, A; Benhamamouch, S; Cerutti, N; Piazza, A; Inturri, S; Torre, C (2008). "Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample". International Journal of Legal Medicine. 122 (3): 251–55. doi:10.1007/s00414-007-0203-5. PMID 17909833.
  60. ^ a b c Wood, ET; Stover, DA; Ehret, C; Destro-Bisol, G; Spedini, G; Mcleod, H; Louie, L; Bamshad, M; et al. (2005). "Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes" (PDF). European Journal of Human Genetics. 13 (7): 867–76. doi:10.1038/sj.ejhg.5201408. PMID 15856073. Archived from the original (PDF) on June 26, 2008.
  61. ^ Yepiskoposian L, Khudoyan A, Harutyunian A (2006). "Genetic Testing of Language Replacement Hypothesis in Southwest Asia". Iran and the Caucasus. 10 (2): 191–208. doi:10.1163/157338406780345899. JSTOR 4030922.
  62. ^ Трофимова Натал'я Вадимовна (Feb. 2015), "Изменчивость Митохондриальной ДНК и Y-Хромосомы в Популяциях Волго-Уральского Региона" ("Mitochondrial DNA variation and the Y-chromosome in the population of the Volga-Ural Region"). Автореферат. диссертации на соискание ученой степени кандидата биологических наук. Уфа – 2015.
  63. ^ 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.
  64. ^ 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): 286–95. doi:10.3325/cmj.2009.50.286. PMC 2702742. PMID 19480023.
  65. ^ 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 [1] indicates that they are mostly 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-
  66. ^ Myres, NM; Rootsi, S; Lin; 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.
  67. ^ Flores, C; Maca-Meyer, N; Larruga, JM; Cabrera, VM; Karadsheh, N; Gonzalez, AM (2005). "Isolates in a corridor of migrations: a high-resolution analysis of Y-chromosome variation in Jordan". Journal of Human Genetics. 50 (9): 435–41. doi:10.1007/s10038-005-0274-4. PMID 16142507.
  68. ^ Hassan, HY; Underhill, PA; Cavalli-Sforza, LL; Ibrahim, ME (2008). "Y-chromosome variation among Sudanese: restricted gene flow, concordance with language, geography, and history" (PDF). American Journal of Physical Anthropology. 137 (3): 316–23. doi:10.1002/ajpa.20876. PMID 18618658. Archived from the original (PDF) on 2009-03-04. 13/32
  69. ^ Cruciani, F; Santolamazza, P; Shen, P; Macaulay, V; Moral, P; Olckers, A; Modiano, D; Holmes, S; et al. (2002). "A Back Migration from Asia to Sub-Saharan Africa Is Supported by High-Resolution Analysis of Human Y-Chromosome Haplotypes". American Journal of Human Genetics. 70 (5): 1197–214. doi:10.1086/340257. PMC 447595. PMID 11910562., pp. 13–14
  70. ^ Contu, D; Morelli; Santoni; Foster; Francalacci; Cucca (2008). "Y-Chromosome Based Evidence for Pre-Neolithic Origin of the Genetically Homogeneous but Diverse Sardinian Population: Inference for Association Scans". PLoS ONE. 3 (1): e1430. Bibcode:2008PLoSO...3.1430C. doi:10.1371/journal.pone.0001430. PMC 2174525. PMID 18183308.
  71. ^ Zalloua, PA; Xue, Y; Khalife, J; Makhoul, N; Debiane, L; Platt, DE; Royyuru, AK; Herrera, RJ; Hernanz, DF; et al. (2008). "Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events". American Journal of Human Genetics. 82 (4): 873–82. doi:10.1016/j.ajhg.2008.01.020. PMC 2427286. PMID 18374297.
  72. ^ ISOGG, Y-DNA Haplogroup R and its Subclades – 2017 (1 August 2017).
  73. ^ Zhong, H. (2010). "Extended Y Chromosome Investigation Suggests Postglacial Migrations of Modern Humans into East Asia via the Northern Route". Molecular Biology and Evolution. 28 (1): 717–27. doi:10.1093/molbev/msq247. PMID 20837606.
  74. ^ Rowold, Diane J; Perez Benedico, David; Garcia-Bertrand, Ralph; et al. (2016). "Ladakh, India: the land of high passes and genetic heterogeneity reveals a confluence of migrations". European Journal of Human Genetics. 24 (3): 442–49. doi:10.1038/ejhg.2015.80. PMC 4755386. PMID 25966630.
  75. ^ a b c R1b Basal Subclades / R1b-M343 (xP312 xU106) Project at Family Tree DNA
  76. ^ About R1a and R1b from Ural epic story. Artem Lukichev (c)
  77. ^ Coble MD, Loreille OM, Wadhams MJ, Edson SM, Maynard K, et al. (2009). "Mystery Solved: The Identification of the Two Missing Romanov Children Using DNA Analysis". PLoS ONE. 4 (3): e4838. Bibcode:2009PLoSO...4.4838C. doi:10.1371/journal.pone.0004838. PMC 2652717. PMID 19277206.

Unannotated references[edit]

  • Nature Article – 日本語要約 – The genetic history of Ice Age Europe – Qiaomei Fu, Cosimo Posth, Mateja Hajdinjak, Martin Petr, Swapan Mallick, Daniel Fernandes, Anja Furtwängler, Wolfgang Haak, Matthias Meyer, Alissa Mittnik, Birgit Nickel, Alexander Peltzer, Nadin Rohland, Viviane Slon, Sahra Talamo, Iosif Lazaridis, Mark Lipson, Iain Mathieson, Stephan Schiffels, Pontus Skoglund, Anatoly P. Derevianko, Nikolai Drozdov, Vyacheslav Slavinsky, Alexander Tsybankov, Renata Grifoni Cremonesi, Francesco Mallegni, Bernard Gély, Eligio Vacca, Manuel R. González Morales, Lawrence G. Straus, Christine Neugebauer-Maresch, Maria Teschler-Nicola, Silviu Constantin, Oana Teodora Moldovan, Stefano Benazzi, Marco Peresani, Donato Coppola, Martina Lari, Stefano Ricci, Annamaria Ronchitelli, Frédérique Valentin, Corinne Thevenet, Kurt Wehrberger, Dan Grigorescu, Hélène Rougier, Isabelle Crevecoeur, Damien Flas, Patrick Semal, Marcello A. Mannino, Christophe Cupillard, Hervé Bocherens, Nicholas J. Conard, Katerina Harvati, Vyacheslav Moiseyev, Dorothée G. Drucker, Jiří Svoboda, Michael P. Richards, David Caramelli, Ron Pinhasi, Janet Kelso, Nick Patterson, Johannes Krause, Svante Pääbo & David Reich. Nature 534, 200–05 (9 June 2016) doi:10.1038/nature17993 Published online 2 May 2016 (in particular RE: Epigravettian R1b find)

External links[edit]