It is the most frequently occurring paternal lineage in Western Europe, as well as some parts of Russia (e.g. the Bashkirs) and across the Sahel in Central Africa, namely: Cameroon, Chad, Guinea, Mauritania, Mali, Niger, Nigeria and Senegal (concentrated in parts of Chad with concentration in the Hausa Tribe and among the Chadic-speaking ethnic groups of Cameroon).
Karafet T. et al. (2014) suggested that a "rapid diversification process of K-M526 likely occurred in Southeast Asia, with subsequent westward expansions of the ancestors of haplogroups R and Q".
[29] However the oldest example of R* has been found in an Ancient North Eurasian sample from Siberia (Mal'ta boy, 24,000 years ago), and its precursor P1 has been found in another Ancient North Eurasian sample from northern Siberia (Yana RHS) dating from c. 31,600 years ago.
According to those studies, haplogroups R1b-M269 and R1a, now the most common in Europe (R1a is also common in South Asia) would have expanded from the West Eurasian Steppe, along with the Indo-European languages; they also detected an autosomal component present in modern Europeans which was not present in Neolithic Europeans, which would have been introduced with paternal lineages R1b and R1a, as well as Indo-European languages.
[2][3][4] Analysis of ancient Y-DNA from the remains from early Neolithic Central and North European Linear Pottery culture settlements have not yet found males belonging to haplogroup R1b-M269.
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.
R-PH155 (R1b2) has been found in individuals from Albania, Bahrain, Bhutan, China, Germany, India, Italy, Singapore, Tajikistan, Turkey, the UK, and the USA.
R-V1636 (R1b1a2) is rare, but has been found in China,[37][38] Bulgaria, Belarus, Southern Finland, Turkey, Iraq, Lebanon, Kuwait, Qatar, Saudi Arabia, Russia (including a Tomsk Tatar), Italy (including one from the Province of Salerno), Puerto Rico, the Dominican Republic, Canada, Germany, Valais, Israel, and Armenia.
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).
[46] 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.
[53] 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.
[56] R-M269 has received significant scientific and popular interest due to its possible connection to the Indo-European expansion in Europe.
Likewise, the oldest samples classified as belonging to R-M269, have been found in Eastern Europe and Pontic-Caspian steppe, not Western Asia.
It peaks at the national level in Wales at a rate of 92%, at 82% in Ireland, 70% in Scotland, 68% in Spain, 60% in France (76% in Normandy), about 60% in Portugal,[41] 50% in Germany, 50% in the Netherlands, 47% in Italy,[59] 45% in Eastern England and 42% in Iceland.
R1b1a1b1) 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.
[67] 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%, North Macedonia 5.1% and Serbia 4.4%.
[69] 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: R-M269* (R1b1a1b*) R-L23* (R1b1a1b1*) R-L51*/R-M412* (R1b1a1b1a*) R-L151* (R1b1a1b1a1a*) R-U106/R-M405/R-S21 (R1b1a1b1a1a1) R-P312 (R1b1a1b1a1a2) R-S1194 (R1b1a1b1a1a3) R-A8051 (R1b1a1b1a1a4) R-PF7589 (R1b1a1b1a2) R-Z2103 (R1b1a1b1b) R-PF7558 (R1b1a1b2) R1b1b (PF6279/V88; previously R1b1a2) is defined by the presence of SNP marker V88, the discovery of which was announced in 2010 by Cruciani et al.[44] Apart from individuals in southern Europe and Western Asia, the majority of R-V88 was found in the Sahel, especially among populations speaking Afroasiatic languages of the Chadic branch.
R1b-V1589, the main subclade within R1b-V88, underwent a further expansion around 5500 years ago, likely in the Lake Chad Basin region, from which some lines recrossed the Sahara to North Africa.
[70] Marcus et al. (2020) provide strong evidence for this proposed model of North to South trans-Saharan movement: The earliest basal R1b-V88 haplogroups are found in several Eastern European Hunter Gatherers close to 11,000 years ago.
The haplogroup then seemingly spread with the expansion of Neolithic farmers, who established agriculture in the Western Mediterranean by around 7500 BP.
R1b-V88 haplogroups were identified in ancient Neolithic individuals in Germany, central Italy, Iberia, and, at a particularly high frequency, in Sardinia.
A part of the branch leading to present-day African haplogroups (V2197) was already derived in Neolithic European individuals from Spain and Sardinia, providing further support for a North to South trans-Saharan movement.
[71][72][73] European autosomal ancestry, mtDNA haplogroups, and lactase persistence alleles have also been identified in African populations that carry R1b-V88 at a high frequency, such as the Fulani and Toubou.
[74][75][72][76] The presence of European Neolithic farmers in Africa is further attested by samples from Morocco dating from c. 5400 BC onwards.
[41][note 2] Contrary to other studies, Shriner & Rotimi (2018) associated the introduction of R1b into Chad with the more recent movements of Baggara Arabs.
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.
[36] Living males carrying subclades of R-PH155 have been found in Bahrain, Bhutan, Ladakh, Tajikistan, Turkey, Xinjiang, and Yunnan.