Haplogroup R-M269 is the sub-clade ofhuman Y-chromosome haplogroupR1b that is defined by the SNP markerM269. According toISOGG 2020 it is phylogenetically classified asR1b1a1b. It underwent intensive research and was previously classified as R1b1a2 (2003 to 2005), R1b1c (2005 to 2008), R1b1b2 (2008 to 2011) and R1b1a1a2 (2011 to 2020).[7]
R-M269 is of particular interest for thegenetic history ofWestern Europe, being the most common European haplogroup. It increases in frequency on an east to west gradient (its prevalence inPoland estimated at 22.7%, compared toWales at 92.3%). It is carried by approximately 110 million European men (2010 estimate).[3] The age of the mutation M269 is estimated at 4,000 to 10,000 years ago.[2][3]
R-M269 had formerly been dated to the Upper Paleolithic,[9] but by about 2010 it was thought to have formed near the beginning of the Neolithic Revolution, about 10,000 years ago.[10][11][12] More recent archaeogenetics studies since 2015, however, strongly suggest an origin amongEneolithichunter-gatherers from eastern Europe.[5][13]
Balaresque et al. (2010) based on the pattern ofY-STR diversity argued for a single source in the Near East and introduction to Europe via Anatolia in the Neolithic Revolution. In this scenario, Mesolithic hunter-gatherers in Europe would have been nearly replaced by the incoming farmers. By contrast, Busby et al. (2012) could not confirm the results of Balaresque et al. (2010) and could not make credible estimates of the age of R-M269 based on Y-STR diversity.[3][14] Furthermore, more recent studies have found that the Y-DNA ofEarly European Farmers is typically haplogroup G2a.[15]
According to a 2015 study,[5] a hunter-gatherer fromSamara (dated 5640-5555 cal BCE) belonging to haplogroup R1b1(*) was ancestral for both haplogroups R-M269 and R-M478. According to the authors, the occurrence of basal forms of R1b in eastern European hunter-gatherers provides a "geographically plausible source" for haplogroup R-M269. Subclades of R-M269, such as R-Z2103, have been found to be prevalent in ancient DNA found in individuals associated with theYamnaya culture and related populations,[5][16] and the dispersal of this haplogroup is associated with the spread of so-called"steppe ancestry" and at least some of the Indo-European languages.[5][17]
According to Lazaridis et al. (2022), "the most likely hypothesis" is that the entire R-M269 clade originated "in the North Caucasus and steppe to the north".[18]
The subclade R-P311 is substantially confined to Western Europe in modern populations. R-P311 is absent from Neolithic-era ancient DNA found in Western Europe, strongly suggesting that its current distribution is due to population movements within Europe taking place after the end of the Neolithic. The three major subclades of P311 are U106 (S21),L21 (M529, S145), and U152 (S28). These show a clear articulation within Western Europe, with centers in theLow Countries, theBritish Isles and theAlps, respectively.[19] These lineages are associated with the non-Iberian steppe-related groups of theBell Beaker culture, and demonstrate the relationship between steppe-related ancestry and R1b-M269 subclades,[16] which are "the major lineage associated with the arrival of Steppe ancestry in western Europe after 2500 BC".[20]
European R1b is dominated by R-M269. It has been found at generally low frequencies throughout centralEurasia,[21] but with relatively high frequency among theBashkirs of thePerm region (84.0%) andBaymaksky District (81.0%).[22] This marker is present in China and India at frequencies of less than one percent. The table below lists in more detail the frequencies of M269 in regions in Asia, Europe, and Africa.
Distribution of R-M269 in Europe increases in frequency from east to west. It peaks at the national level inWales at a rate of 92%, at 82% inIreland, 70% inScotland, 68% inSpain, 60% inFrance (76% inNormandy), about 60% inPortugal,[23] 50% inGermany, 50% in theNetherlands, 47% inItaly,[24] 45% in EasternEngland, 43% inDenmark and 42% inIceland. It is as high as 95% in parts of Ireland. It is also found in some areas ofNorth Africa, where its frequency peaks at 10% in some parts ofAlgeria.[25] M269 has likewise been observed among 8% of theHerero inNamibia.[26] The R-M269 subclade has been found in ancientGuanche (Bimbapes) fossils excavated in Punta Azul,El Hierro,Canary Islands, which are dated to the 10th century (~44%).[27] In western Asia, R-M269 has been reported in 29.2% ofAssyrian males from Iran.[28] Haplogroup R1b1 and its subclades in Asia.[29] M269* (xL23) is found at highest frequency in the centralBalkans notablyKosovo with 7.9%,North Macedonia 5.1% andSerbia 4.4%.[23] Kosovo is notable in having a high percentage of descendant L23* or L23(xM412) at 11.4% unlike most other areas with significant percentages of M269* and L23* except forPoland with 2.4% and 9.5% and theBashkirs of southeastBashkortostan with 2.4% and 32.2% respectively.[23] Notably this Bashkir population also has a high percentage of M269 sister branch M73 at 23.4%.[23] Five individuals out of 110 tested in the Ararat Valley, Armenia belonged to R1b1a2* and 36 to L23*, with none belonging to known subclades of L23.[30] Trofimova et al. (2015) found a surprising high frequency of R1b-L23 (Z2105/2103) among the peoples of theIdel-Ural. 21 out of 58 (36.2%) ofBurzyansky District Bashkirs, 11 out of 52 (21.2%) ofUdmurts, 4 out of 50 (8%) ofKomi, 4 out of 59 (6.8%) ofMordvins, 2 out of 53 (3.8%) ofBesermyan and 1 out of 43 (2.3%) ofChuvash were R1b-L23 (Z2105/2103),[31] the type of R1b found in the recently analyzedYamna remains of theSamara Oblast andOrenburg Oblast.[32]
Especially Western European R1b is dominated by specific sub-clades of R-M269 (with some small amounts of other types found in areas such as Sardinia[23][33]). Within Europe, R-M269 is dominated by R-M412, also known as R-L51, which according to Myres et al. (2010) is "virtually absent in the Near East, the Caucasus and West Asia." This Western European population is further divided between R-P312/S116 and R-U106/S21, which appear to spread from the western and easternRhine river basin respectively. Myres et al. note further that concerning its closest relatives, in R-L23*, it is "instructive" that these are often more than 10% of the population in the Caucasus, Turkey, and some southeast European and circum-Uralic populations.
In Western Europe it is present but in generally much lower levels apart from "an instance of 27% in Switzerland'sUpper Rhone Valley."[23] In addition, the sub-clade distribution map, Figure 1h titled "L11(xU106,S116)", in Myres et al. shows that R-P310/L11* (or as yet undefined subclades of R-P310/L11) occurs only in frequencies greater than 10% in Central England with surrounding areas of England and Wales having lower frequencies.[23] This R-P310/L11* is almost non-existent in the rest of Eurasia and North Africa with the exception of coastal lands fringing the western and southern Baltic (reaching 10% in Eastern Denmark and 6% in northern Poland) and in Eastern Switzerland and surrounds.[23]
R-U106: Netherlands, England, Norway; Germanic Europe
P312/S116 (R1b1a1a2a1a2)
S116*: Iberian Peninsula
U152 (R1b1a1a2a1a2b)
U152: Corsica, Sardinia; Northern Italy, Central Italy, Switzerland, Central France, Russia (Perm region, Ghaeynae bashkirs)
L21_M529_S145 (R1b1a1a2a1a2c1)
M529: Brittany, Ireland, Scotland, Wales
CTS4528 (R1b1a1a2a1a3a)
R-CTS4528
Z2103 (R1b1a1a2a2)
Z2103: Balkans and Turkey, Samara (Russia, Yamnaya a.c.), South Ural (burjan bashkirs)
In 2009, DNA extracted from the femur bones of 6 skeletons in an early-medieval burial place inErgolding (Bavaria, Germany) dated to around c. 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 inHaplogroup G2a.[35]
Population studies which test for M269 have become more common in recent years, while in earlier studies men in this haplogroup are only visible in the data by extrapolation of what is likely. The following gives a summary of most of the studies which specifically tested for M269, showing its distribution (as a percentage of total population) in Europe,North Africa, theMiddle East and Central Asia as far asChina andNepal.
R-L151 (L151/PF6542, CTS7650/FGC44/PF6544/S1164, L11, L52/PF6541, P310/PF6546/S129, P311/PF6545/S128) also known as R1b1a1a2a1, and its subclades, include most males with R1b in Western Europe.
This subclade is defined by the presence of the SNP U106, also known as S21 and M405.[10][61] It appears to represent over 25% of R1b in Europe.[10] In terms of percentage of total population, its epicenter isFriesland, where it makes up 44% of the population.[62] In terms of total population numbers, its epicenter isCentral Europe, where it comprises 60% ofR1 combined.[62] See alsoHaplogroup R-Z18
U106/S21/M405
un‑defined
R-U106* (R-U106-*)
FGC3861
R-FGC3861 (R1b1a2a1a1a)
Z18
R-Z18 (R1b1a2a1a1b)
Z381
S264
R-S264 (R1b1a2a1a1c1)
S499
R-S499 (R1b1a2a1a1c2)
M1994
R-M1994 (R1b1a2a1a1c3)
FGC396
R-FGC396 (R1b1a2a1a1d)
S12025
R-S12025 (R1b1a2a1a1e)
While this sub-clade of R1b is frequently discussed amongstgenetic genealogists, the following table represents thepeer-reviewed findings published so far in the 2007 articles of Myres et al. and Sims et al.[42][61]
R1b1a1a2a1a2, better known as R-P312 (or R-S116) is one of the most common types of R-M269 in Europe, alongside R-U106. Myres et al. described it as originating in and spreading from the west of the Rhine basin.[23]
R-P312 has been the subject of significant, ongoing study concerning its complex internal structure.
R-M153 is a subclade of R-DF27 that has been found mostly inBasques andGascons, among whom it represents a sizeable fraction of the Y-DNA pool,[57][63] though is also found occasionally among Iberians in general. The first time it was located (Bosch 2001[64]) it was described as H102 and included seven Basques and oneAndalusian.
R-M167 is a subclade of R-DF27 defined by the presence of the marker M167. The first author to test for this marker (long before current haplogroup nomenclature existed) was Hurles in 1999, who tested 1158 men in various populations.[65] He found it relatively common among Basques (13/117: 11%) andCatalans (7/32: 22%). Other occurrences were found among other French, British, Spaniards,Béarnais, andGermans.
In 2000 Rosser et al., in a study which tested 3616 men in various populations[66] also tested for that same marker, naming the haplogroup Hg22, and again it was found mainly among Basques (19%), in lower frequencies among French (5%),Bavarians (3%), Spaniards (2%), Southern Portuguese (2%), and in single occurrences among Romanians, Slovenians, Dutch, Belgians and English.::In 2001 Bosch described this marker as H103, in 5 Basques and 5 Catalans.[64] Further regional studies have located it in significant amounts inAsturias,Cantabria andGalicia, as well as again among Basques.[64] Cases in theAzores have been reported.[citation needed] In 2008 two research papers by López-Parra[63] and Adams,[57] respectively, confirmed a strong association with all or most of thePyrenees and Eastern Iberia.
In a larger study of Portugal in 2006, with 657 men tested, Beleza et al. confirmed similar low levels in all the major regions, from 1.5%–3.5%.[39]
R-L165
This subclade is defined by the presence of the marker S68, also known as L165. It is found in England, Scandinavia, and Scotland (in this country it is mostly found in theNorthern Isles andOuter Hebrides). It has been suggested, therefore, that it arrived in the British Isles with Vikings.[67]
R-U152 is defined by the presence of the marker U152, also called S28.[10] Its existence was confirmed by Sims et al. (2007).[61] Myres et al. report this clade "is most frequent (20–44%) in Switzerland, Italy, France and Western Poland, with additional instances exceeding 15% in some regions of England and Germany."[42] Similarly Cruciani et al. (2010)[68] reported frequency peaks in Northern and Central Italy and France. Out of a sample of 135 men in Tyrol, Austria, 9 tested positive for U152/S28.[69] Far removed from this apparent core area, Myreset al. also mention a sub-population in northBashkortostan, where 71% of 70 men tested belong to R-U152. They propose this to be the result of an isolatedfounder effect.[23] Kinget al. (2014) reported four living descendants ofHenry Somerset, 5th Duke of Beaufort in the male line tested positive for U-152.[70] Ancient samples from the central EuropeanBell Beaker,Hallstatt andTumulus cultures belonged to this subclade.[16][71][72] Analyzed Iron AgeLatins,Etruscans and Alpine Celts, dating between 1000 and 100 BCE, belonged primarily to haplogroup R1b-U152 (including the cladesL2, Z56 and Z193).[73][74] Ancient samples ofCenomaniCisalpine Gauls fromVerona who lived between the 3rd and 1st centuries BCE were predominantly R-U152.[75] U152 is also found at low frequencies of around 3%-4% in both Morocco and Algeria, pointing to direct maritime contacts between the European and North African sides of the western Mediterranean.[76]
R-L21, also known as R-M529 and R-S145,[10] is most common inIreland,Scotland andWales (i.e. at least 25–50% of their male populations.[23] R-L21 has two primary subclades:R-A5846 andR-S552.
R-DF13 A primary subclade of R-S552,R-DF13 – also known as R-S521, R-Z2542 and R-CTS8221 – is one of the most common subclades of R-L21. At least one study estimated that R-DF13 would be found among more than 50% of living Irish males. The following are among the most common subclades within R-DF13.
R-DF21, a primary subclade of R-DF13, defined by the presence of the marker DF21 a.k.a. S192. R-DF21 makes up about 10% of all L21 men and is circa 3000 years old.[77]
R-L159.2 is a subclade of R-DF13, defined by the marker L159/S169. It is known as R-L159.2 because of an unrelated parallel mutation (L159.1), found within haplogroupI2a1a1a (a.k.a. I-L158 or I-M26). Consequently, some Y-DNA trees exclude L159/S169 completely, on the basis that it may be an unreliable marker. For instance, as of 2024, Yfull refers to an equivalent subclade asR-FGC80001 (i.e. R-L21 > R-S552 > R-DF13 > R-Z255 > R-FGC80001).[78] R-L159.2 appears to be associated with theLaigin, anethno-tribal group, after whom theKingdom of Leinster was named. It is common in males from coastal areas surrounding theIrish Sea, including westernWales, theIsle of Man and theHebrides; R-L159.2 has also been found at significant levels inNorway, western and southernScottish mainland, parts ofEngland, northwestFrance, and northernDenmark.[79]
R-L193: this subclade within R-DF13 is defined by the presence of the marker L193. Many surnames with this marker are associated geographically with the western "Border Region" of Scotland. A few other surnames have a Highland association. R-L193 is a relatively young subclade likely born within the last 2000 years.
R-L226, under R-DF13, is defined by the presence of the marker L226, also known as S168. Commonly referred to as Irish Type III, it is concentrated in central western Ireland and associated with theDál gCais kindred.[80]
R-L371: a subclade within R-DF13 defined by the presence of the marker L371 – sometimes referred to as the "Welsh modal haplotype". It is associated with ancient Welsh kings and princes.[81][82][83]
^Balaresque et al. (2010), figure 1B: "Geographical distribution of haplogroup frequency of hgR1b1b2, shown as an interpolated spatial frequency surface. Filled circles indicate populations for which microsatellite data and TMRCA estimates are available. Unfilled circles indicate populations included to illustrate R1b1b2 frequency only. Population codes are defined inTable 1."
^ab"Mean estimates for individual populations vary (Table 2), but the oldest value is in Central Turkey (7,989 y [95% confidence interval (CI): 5,661–11,014]), and the youngest in Cornwall (5,460 y [3,764–7,777]). The mean estimate for the entire dataset is 6,512 y (95% CI: 4,577–9,063 years), with a growth rate of 1.95% (1.02%–3.30%). Thus, we see clear evidence of rapid expansion, which cannot have begun before theNeolithic period." Balaresque et al. (2010).
^Villaescusa, Patricia (2017). "Characterization of the Iberian Y chromosome haplogroup R-DF27 in Northern Spain".Forensic Science International: Genetics.27:142–148.doi:10.1016/j.fsigen.2016.12.013.ISSN1872-4973.PMID28073088.The origin of R-M269 has been the subject of great controversy[6], [7], [8], as it was originally believed to have originated in the Palaeolithic [9], [10]. More recent analysis [11], [12] suggested that this lineage had a Neolithic origin, but this claim was challenged [7] due to the Y-STR choice for computing the coalescence times and sample ascertainment. The last studies involving next-generation sequencing (NGS) of the Y-chromosome [8], [13] and the analysis of ancient DNA [14] bring light to the debate, as they support more recent origin and continent-wide expansion of the main European patrilineages, including R-M269 (≈5 KYA, middle Neolithic).
^Lazaridis, Iosif; et al. (2022)."The genetic history of the Southern Arc: a bridge between West Asia and Europe".Science.377 (6609): Supplementary material, p.332.doi:10.1126/science.abm4247.PMC10064553.PMID36007055.Given that within the phylogeny of R-M269 (R-PF7562, (R-L51, R-Z2103 is meant) both R-PF7562 and R-Z2103 have their earliest examples in the North Caucasus and steppe to the north, the most likely hypothesis is that the entire R-M269 clade originated there as well, with R-L51 representing a lineage that eventually became highly successful in mainland Europe, R-PF7562 a lineage that did not achieve the prominence of its relatives, and R-Z2103 became highly successful (briefly) as part of the Yamnaya culture and its offshoots
^dates according to theISOGG trees for each respective year.
^Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, et al. (November 2000). "The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perspective".Science.290 (5494):1155–9.Bibcode:2000Sci...290.1155S.doi:10.1126/science.290.5494.1155.PMID11073453.
^Lazaridis, Iosif; et al. (2022)."The genetic history of the Southern Arc: a bridge between West Asia and Europe".Science.377 (6609): Supplementary material, p.332.doi:10.1126/science.abm4247.PMC10064553.PMID36007055.Given that within the phylogeny of R-M269 (R-PF7562, (R-L51, R-Z2103 is meant) both R-PF7562 and R-Z2103 have their earliest examples in the North Caucasus and steppe to the north, the most likely hypothesis is that the entire R-M269 clade originated there as well, with R-L51 representing a lineage that eventually became highly successful in mainland Europe, R-PF7562 a lineage that did not achieve the prominence of its relatives, and R-Z2103 became highly successful (briefly) as part of the Yamnaya culture and its offshoots
^Hammer M (2013).Origins of R-M269 Diversity in Europe. FamilyTreeDNA 9th Annual Conference.
^Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, et al. (November 2000). "Y chromosome sequence variation and the history of human populations".Nature Genetics.26 (3):358–61.doi:10.1038/81685.PMID11062480.S2CID12893406.
^abGrugni V, Raveane A, Mattioli F, Battaglia V, Sala C, Toniolo D, et al. (February 2018). "Reconstructing the genetic history of Italians: new insights from a male (Y-chromosome) perspective".Annals of Human Biology.45 (1):44–56.doi:10.1080/03014460.2017.1409801.PMID29382284.S2CID43501209.
^Robino C, Crobu F, Di Gaetano C, Bekada A, Benhamamouch S, Cerutti N, et al. (May 2008). "Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample".International Journal of Legal Medicine.122 (3):251–255.doi:10.1007/s00414-007-0203-5.PMID17909833.S2CID11556974.
^Ordóñez AC, 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.Bibcode:2017JArSc..78...20O.doi:10.1016/j.jas.2016.11.004.
^abBeleza S, Gusmão L, Lopes A, Alves C, Gomes I, Giouzeli M, et al. (March 2006). "Micro-phylogeographic and demographic history of Portuguese male lineages".Annals of Human Genetics.70 (Pt 2):181–94.doi:10.1111/j.1529-8817.2005.00221.x.PMID16626329.S2CID4652154.395/657
^abKing RJ, Ozcan SS, Carter T, Kalfoğlu E, Atasoy S, Triantaphyllidis C, et al. (March 2008). "Differential Y-chromosome Anatolian influences on the Greek and Cretan Neolithic".Annals of Human Genetics.72 (Pt 2):205–14.doi:10.1111/j.1469-1809.2007.00414.x.PMID18269686.S2CID22406638.
^Robino C, Crobu F, Di Gaetano C, Bekada A, Benhamamouch S, Cerutti N, et al. (May 2008). "Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample".International Journal of Legal Medicine.122 (3):251–5.doi:10.1007/s00414-007-0203-5.PMID17909833.S2CID11556974.
^abcMarjanovic D, Fornarino S, Montagna S, Primorac D, Hadziselimovic R, Vidovic S, Pojskic N, Battaglia V, Achilli A, Drobnic K, Andjelinovic S, Torroni A, Santachiara-Benerecetti AS, Semino O (November 2005). "The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups".Annals of Human Genetics.69 (Pt 6):757–63.doi:10.1111/j.1529-8817.2005.00190.x.PMID16266413.S2CID36632274.
^abLópez-Parra AM, Gusmão L, Tavares L, Baeza C, Amorim A, Mesa MS, Prata MJ, Arroyo-Pardo E (January 2009). "In search of the pre- and post-neolithic genetic substrates in Iberia: evidence from Y-chromosome in Pyrenean populations".Annals of Human Genetics.73 (1):42–53.doi:10.1111/j.1469-1809.2008.00478.x.PMID18803634.S2CID43273988.
^Henry Somerset was in turn descended in the patrilineal line fromJohn of Gaunt (1340–1399), a son of KingEdward III (1312–1377). In the context of theanalysis of the remains of Richard III, which proved to belong to haplogroup G2, the possibility of afalse-paternity event, most likely between Edward III and Henry Somerset, was discussed; possibly confirming rumors to the effect that John of Gaunt was illegitimate (Jonathan Sumption,Divided Houses: The Hundred Years War III, 2009, p. 274).King TE, Fortes GG, Balaresque P, Thomas MG, Balding D, Maisano Delser P, Neumann R, Parson W, Knapp M, Walsh S, Tonasso L, Holt J, Kayser M, Appleby J, Forster P, Ekserdjian D, Hofreiter M, Schürer K (December 2014)."Identification of the remains of King Richard III".Nature Communications.5 (5631): 5631.Bibcode:2014NatCo...5.5631K.doi:10.1038/ncomms6631.PMC4268703.PMID25463651."Y-chromosome haplotypes from male-line relatives and the remains do not match, which could be attributed to a false-paternity event occurring in any of the intervening generations."
