Males carrying R-M173 in modern populations appear to comprise two subclades: R1a and R1b, which are found mainly in populations native to Eurasia (except East and Southeast Asia). R-M173 contains the majority of representatives of haplogroup R in the form of its subclades, R1a and R1b (Rosser 2000, Semino 2000).
R1 and its sibling clade R2 (R-M79) are the only immediate descendants of Haplogroup R (R-M207). R is a direct descendant of Haplogroup P1 (P-M45), and a sibling clade, therefore, of Haplogroup Q (Q-M242). The origins of haplogroup R1 cannot currently be proved. According to the SNP-Tracker (as of May 2023) it evolved around 25 000 BP/23 000 BC in western Siberia between the southern Urals and Lake Balkhash.[5]
No examples of the basal subclade, R1* have yet been identified in living individuals or ancient remains. However, the parent clade, R* was present in Upper Paleolithic-era individuals (24,000 years BP), from the Mal'ta-Buret' culture, in Siberia.[6] The autosomal DNA of the Mal'ta-Buret' people is a part of a group known to scholars of population genetics as Ancient North Eurasians (ANE). The first major descendant haplogroups appeared subsequently in hunter-gatherers from Eastern Europe (R1a, 13 kya)[7] and Western Europe (R1b, 14 kya),[8] with genotypes derived, to varying degrees, from ANE.[9]
Individuals whose Y-chromosomes possess all the mutations on internal nodes of the Y-DNA tree down to and including M207 (which defines Haplogroup R) but which display neither the M173 mutation that defines haplogroup R1 nor the M479 mutation that defines Haplogroup R2 are categorized as belonging to group R* (R-M207). R* has been found in 10.3% (10/97) of a sample of Burusho and 6.8% (3/44) of a sample of Kalash from northern Pakistan (Firasat 2007).
Some authorities point to the greater similarity between haplogroup R1 subclades found in North America and those found in Siberia (e.g. Lell [11] and Raghavan [12]), suggesting prehistoric immigration from Asia and/or Beringia.
Africa
One subclade, now known as R1b1a2 (R-V88), is found only at high frequencies amongst populations native to West Africa, such as the Fulani, and is believed to reflect a prehistoric back-migration from Eurasia to Africa.[citation needed]
The split of R1a (M420) is computed to ca 25,000 years ago (95% CI: 21, 300–29, 000 BP), or roughly the last glacial maximum. A large study performed in 2014 (Underhill et al. 2015), using 16,244 individuals from over 126 populations from across Eurasia, concluded that there was compelling evidence that "the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran."[13]
The subclade M417 (R1a1a1) diversified ca. 5,800 years ago.[14] The distribution of M417-subclades R1-Z282 (including R1-Z280)[15] in Central- and Eastern Europe and R1-Z93 in Asia[15][16] suggests that R1a1a diversified within the Eurasian Steppes or the Middle East and Caucasus region.[15] The place of origin of these subclades plays a role in the debate about the origins of the Indo-Europeans.
High frequencies of haplogroup R1a are found amongst West BengalBrahmins (72%), and Uttar Pradesh Brahmins, (67%), the Ishkashimi (68%), the Tajik population of Panjikent (64%), the Kyrgyz population of Central Kyrgyzstan (63.5%), Sorbs (63.39%), Bihar Brahmins (60.53%), Shors (58.8%),[17] Poles (56.4%), Teleuts (55.3%),[17]South Altaians (58.1%),[18] Ukrainians (50%) and Russians (50%) (Semino 2000, Wells 2001, Behar 2003, and Sharma 2007).
It is also present at lower frequencies throughout Eastern Europe, with higher diversity than in western Europe, suggesting an ancient migration of haplogroup R1b from the east.[20] Haplogroup R1b is also found at various frequencies in many different populations near the Ural Mountains and Central Asia, its likely region of origin.
There may be a correlation between this haplogroup and the spread of Centum branch Indo-European languages in southern and western Europe. For instance, the modern incidence of R1b reaches between 60% and 90% of the male population in most parts of Spain, Portugal, France, Britain and Ireland.[21] The clade is also found at frequencies of up to 90% in the Chad Basin, and is also present in North Africa, where its frequency surpasses 10% in some parts of Algeria.
R-M343 (previously called Hg1[citation needed] and Eu18[citation needed]) is the most frequent Y-chromosome haplogroup in Europe. It is an offshoot of R-M173, characterised by the M343 marker.[25] An overwhelming majority of members of R-M343 are classified as R-P25 (defined by the P25 marker), the remainder as R-M343*. Its frequency is highest in Western Europe (and due to modern European immigration, in parts of the Americas). The majority of R-M343-carriers of European descent belong to the R-M269 (R1b1a2) descendant line.
^Underhill, Peter A. (2015), "The phylogenetic and geographic structure of Y-chromosome haplogroup R1a", European Journal of Human Genetics, 23 (1): 124–131, doi:10.1038/ejhg.2014.50, PMC4266736, PMID24667786
^Khar'kov, V.N. (2007), "Gene pool differences between Northern and Southern Altaians inferred from the data on Y-chromosomal haplogroups", Genetika, 43 (5): 675–87, doi:10.1134/S1022795407050110, PMID17633562, S2CID566825
^Robino C, Crobu F, Di Gaetano C, et al. (May 2008). "Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample". Int. J. Legal Med. 122 (3): 251–5. doi:10.1007/s00414-007-0203-5. PMID17909833. S2CID11556974.
^Note that in earlier literature the M269 marker, rather than M343, was used to define the "R1b" haplogroup. Then, for a time (from 2003 to 2005) what is now R1b1c was designated R1b3.
Works cited
Gayden, T; Cadenas, AM; Regueiro, M; Singh, NB; Zhivotovsky, LA; Underhill, PA; Cavalli-Sforza, LL; Herrera, RJ (2007), "The Himalayas as a directional barrier to gene flow.", American Journal of Human Genetics, 80 (5): 884–94, doi:10.1086/516757, PMC1852741, PMID17436243
Pamjav (December 2012), "Brief communication: New Y-chromosome binary markers improve phylogenetic resolution within haplogroup R1a1", American Journal of Physical Anthropology, 149 (4): 611–615, doi:10.1002/ajpa.22167, PMID23115110
Passarino; et al. (2002), "Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms", Eur. J. Hum. Genet., vol. 10, no. 9, pp. 521–9, doi:10.1038/sj.ejhg.5200834, PMID12173029
Saha; et al. (2005), "Genetic affinity among five different population groups in India reflecting a Y-chromosome gene flow", J. Hum. Genet., vol. 50, no. 1, pp. 49–51, doi:10.1007/s10038-004-0219-3, PMID15611834
Sengupta; et al. (2005), "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., vol. 78, no. 2, pp. 202–21, doi:10.1086/499411, PMC1380230, PMID16400607
^Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91. doi:10.1002/humu.22468. PMID24166809. S2CID23291764.
^K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.; YFull YTree v5.08, 2017, "K-M2335", and; PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
^ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
^ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)
