Haplogroup R-M269


Haplogroup R-M269 is the sub-clade of human Y-chromosome haplogroup R1b that is defined by the SNP marker M269. According to ISOGG 2020 it is phylogenetically classified as R1b1a1b. It underwent intensive research and was previously classified as R1b1a2, R1b1c, R1b1b2 and R1b1a1a2.
The oldest R-M269 samples have been found in the northern Caucasus region.
R-M269 is of particular interest for the genetic history of Western Europe, being the most common European haplogroup. It increases in frequency on an east to west gradient. It is carried by approximately 110 million European men.
The age of the mutation M269 is estimated at 4,000 to 10,000 years ago.

Origin

R-M269 had formerly been dated to the Upper Paleolithic, but by about 2010 it was thought to have formed near the beginning of the Neolithic Revolution, about 10,000 years ago. More recent archaeogenetics studies since 2015, however, strongly suggest an origin among Eneolithic hunter-gatherers from eastern Europe.
Balaresque et al. based on the pattern of Y-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. could not confirm the results of Balaresque et al. and could not make credible estimates of the age of R-M269 based on Y-STR diversity. Furthermore, more recent studies have found that the Y-DNA of Early European Farmers is typically haplogroup G2a.
According to Lazaridis et al., "the most likely hypothesis" is that the entire R-M269 clade originated "in the North Caucasus and steppe to the north".
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, L21, and U152. These show a clear articulation within Western Europe, with centers in the Low Countries, the British Isles and the Alps, respectively. These lineages are associated with the non-Iberian steppe-related groups of the Bell Beaker culture, and demonstrate the relationship between steppe-related ancestry and R1b-M269 subclades, which are "the major lineage associated with the arrival of Steppe ancestry in western Europe after 2500 BC".

Distribution

European R1b is dominated by R-M269. It has been found at generally low frequencies throughout central Eurasia, but with relatively high frequency among the Bashkirs of the Perm region and Baymaksky District. 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 in Wales at a rate of 92%, at 82% in Ireland, 70% in Scotland, 68% in Spain, 60% in France, about 60% in Portugal, 50% in Germany, 50% in the Netherlands, 47% in Italy, 45% in Eastern England, 43% in Denmark and 42% in Iceland. It is as high as 95% in parts of Ireland. It is also found in some areas of North Africa, where its frequency peaks at 10% in some parts of Algeria. M269 has likewise been observed among 8% of the Herero in Namibia. The R-M269 subclade has been found in ancient Guanche fossils excavated in Punta Azul, El Hierro, Canary Islands, which are dated to the 10th century. In western Asia, R-M269 has been reported in 29.2% of Assyrian males from Iran. Haplogroup R1b1 and its subclades in Asia.
M269* is found at highest frequency in the central Balkans notably Kosovo with 7.9%, North Macedonia 5.1% and Serbia 4.4%. Kosovo is notable in having a high percentage of descendant L23* or L23 at 11.4% unlike most other areas with significant percentages of M269* and L23* except for Poland with 2.4% and 9.5% and the Bashkirs of southeast Bashkortostan with 2.4% and 32.2% respectively. Notably this Bashkir population also has a high percentage of M269 sister branch M73 at 23.4%. 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. Trofimova et al. found a surprising high frequency of R1b-L23 among the peoples of the Idel-Ural. 21 out of 58 of Burzyansky District Bashkirs, 11 out of 52 of Udmurts, 4 out of 50 of Komi, 4 out of 59 of Mordvins, 2 out of 53 of Besermyan and 1 out of 43 of Chuvash were R1b-L23, the type of R1b found in the recently analyzed Yamna remains of the Samara Oblast and Orenburg Oblast.
Especially Western European R1b is dominated by specific sub-clades of R-M269.
Within Europe, R-M269 is dominated by R-M412, also known as R-L51, which according to Myres et al. 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 eastern Rhine 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's Upper Rhone Valley."
In addition, the sub-clade distribution map, Figure 1h titled "L11", in Myres et al. shows that R-P310/L11* occurs only in frequencies greater than 10% in Central England with surrounding areas of England and Wales having lower frequencies. 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 and in Eastern Switzerland and surrounds.
In 2009, DNA extracted from the femur bones of 6 skeletons in an early-medieval burial place in Ergolding 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 in Haplogroup G2a.
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 in Europe, North Africa, the Middle East and Central Asia as far as China and Nepal.
CountrySamplingsampleR-M269Source
WalesNational6592.3%Balaresque et al.
SpainBasques11687.1%Balaresque et al.
IrelandNational79685.4%Moore et al.
SpainCatalonia8081.3%Balaresque et al.
ItalyLombardy7880.8%Grugni et al.
FranceIlle-et-Vilaine8280.5%Balaresque et al.
FranceHaute-Garonne5778.9%Balaresque et al.
EnglandCornwall6478.1%Balaresque et al.
FranceLoire-Atlantique4877.1%Balaresque et al.
ItalyTuscany4276.2%Di Giacomo et al.
FranceFinistère7576.0%Balaresque et al.
FranceBasques6175.4%Balaresque et al.
ItalyNorth East3073.5%Di Giacomo et al.
SpainEast Andalucia9572.0%Balaresque et al.
SpainCastilla La Mancha6372.0%Balaresque et al.
FranceVendée5068.0%Balaresque et al.
Dominican RepublicNational2665.4%Bryc et al.
FranceBaie de Somme4362.8%Balaresque et al.
EnglandLeicestershire4362.0%Balaresque et al.
ItalyNorth-East 7960.8%Balaresque et al.
PortugalNational65759.9%Beleza et al.
ItalyEmilia2958.5%Boattini et al.
SpainGalicia8858.0%Balaresque et al.
SpainWest Andalucia7255.0%Balaresque et al.
PortugalSouth7846.2%Balaresque et al.
ItalyNorth-West9945.0%Balaresque et al.
DenmarkNational5642.9%Balaresque et al.
NetherlandsNational8442.0%Balaresque et al.
ArmeniaArarat Valley4137.3%Herrera et al.
RussiaBashkirs47134.40%Lobov
ItalyEast Sicily24634.14%Tofanelli et al.
ItalyWest Sicily6833.0%Tofanelli et al.
GermanyBavaria8032.3%Balaresque et al.
TurkeyLake Van Armenians3332.0%Herrera et al.
ArmeniaGardman3031.3%Herrera et al.
IranAssyrians4829.2%Grugni,Viola et al.
PolandNational11022.7%Myres et al.
SloveniaNational7521.3%Battaglia et al.
Kosovo AlbaniansNational11421.1%Pericic2005
SloveniaNational7020.6%Balaresque et al.
TurkeyCentral15219.1%Cinnioğlu et al.
Albanians in North MacedoniaNational6418.8%Battaglia et al.
AlbaniansNational5518.2%Battaglia et al.
CreteNational19317.0%King et al.
ItalySardinia93017.0%Contu et al.
TurkeySasun Armenians1615.4%Herrera et al.
IranNorth3315.2%Regueiro et al.
Moldova26814.6%Varzari
GreeceNational17113.5%King et al.
TurkeyWest16313.5%Cinnioğlu et al.
RomaniaNational5413.0%Varzari
CroatiaNational8912.4%Battaglia et al.
TurkeyEast20812.0%Cinnioğlu et al.
AlgeriaNorthwest 10211.8%Robino et al.
RussiaRoslavl 10711.2%Balanovsky et al.
IraqNational13910.8%Al-Zahery et al.
NepalNewar6610.6%Gayden et al.
BulgariaNational80810.5%Karachanak et al.
SerbiaNational10010.0%Belaresque et al.
LebanonNational9147.3%Zalloua et al.
TunisiaNational6010.3%Bekada et al.
TunisiaTunis1397.2%Adams et al.
MoroccoNational7605%Bekada et al.
LibyaNational830.0%Bekada et al.
EgyptNational3602.9%Bekada et al.
AlgeriaNational1567.0%Bekada et al.
AlgeriaAlgiers, Tizi Ouzou466.5%Adams et al.
Bosnia-HerzegovinaSerbs816.2%Marjanovic et al.
IranSouth1176.0%Regueiro et al.
RussiaRepyevka 965.2%Balanovsky et al.
UAE1643.7%Cadenas et al.
Bosnia-HerzegovinaBosniaks853.5%Marjanovic et al.
Pakistan1762.8%Sengupta et al.
RussiaBelgorod1432.8%Balanovsky et al.
RussiaOstrov 752.7%Balanovsky et al.
RussiaPristen 452.2%Balanovsky et al.
Bosnia-HerzegovinaCroats902.2%Marjanovic et al.
Qatar721.4%Cadenas et al.
China1280.8%Sengupta et al.
Indiavarious7280.5%Sengupta et al.
CroatiaOsijek290.0%Battaglia et al.
Yemen620.0%Cadenas et al.
Tibet1560.0%Gayden et al.
NepalTamang450.0%Gayden et al.
NepalKathmandu770.0%Gayden et al.
Japan230.0%Sengupta et al.