Haplogroup R1

Haplogroup R1, or haplogroup R-M173, is a Y-chromosome DNA haplogroup, a subgroup of haplogroup R, associated with the M173 mutation. It is dominated in modern populations by two Eurasian clades, haplogroup R1a and haplogroup R1b, which together are found all over Eurasia except in Southeast Asia. However, other types of haplogroup R1, less well-known and undefined so far by any identified SNP, and therefore referred to collectively simply as R-M173*, have been reported in the Americas and all over Asia and Oceania.

Origins

The origins of haplogroup R1 remain unclear. It 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).

There were few areas in which Haplogroups P-M45, Q-M242 and R-M207 were all common amongst prehistoric populations. R-M207 and its subclades were most common along an axis from Western Europe to South Asia, whereas Q-M242 was the most common Y-DNA lineage among Native Americans. However, both P-M45 and its immediate descendants also appear to gave been relatively common in Central Asia and Siberia.

Based on its ancestral lineages, an inferred origin for haplogroup R1 is somewhere east of West Asia. For example, Kivisild 2003 believes the evidence "suggests that southern and western Asia might be the source of this haplogroup" and that "given the geographic spread and STR diversities of sister clades R1 and R2, the latter of which is restricted to India, Pakistan, Iran, and southern central Asia, it is possible that southern and western Asia were the source for R1 and R1a differentiation." Soares 2010 felt in their review of the literature, that the case for South Asian origins is strongest, with the Central Asian origin argued by (Wells 2001) being also worthy of consideration.

Eurasia

Haplogroup R1 is very common throughout all of Eurasia except East Asia and Southeast Asia. Its distribution is believed to be associated with the re-settlement of Eurasia following the last glacial maximum. Its main subgroups are R1a and R1b. One subclade of haplogroup R1b (especially R1b1a2), is the most common haplogroup in Western Europe and Bashkortostan (Lobov 2009), while a subclade of haplogroup R1a (especially haplogroup R1a1) is the most common haplogroup in large parts of South Asia, Eastern Europe, Central Asia, Western China, and South Siberia.^[2]

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-M207*. R-M207* 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).

Americas

The presence of haplogroup R1 among Indigenous Americans groups is a matter of controversy. It is now the most common haplogroup after the various Q-M242, especially in North America in Ojibwe people at 79%, Chipewyan 62%, Seminole 50%, Cherokee 47%, Dogrib 40% and Papago 38%.

The decreasing gradient of haplogroup R from Northeastern to Southwestern North America is evidence that this results from European admixture.^[3]

Conversely, other authorities point to the greater similarity between haplogroup R1 subclades found in North America and those found in Siberia (e.g. Lell ^[4] and Raghavan ^[5]), suggesting prehistoric immigration from Asia and/or Beringia.

Africa

One isolated clade (or clades) of Y-chromosomes that appear to belong to the R-P25 sublineage is found at high frequency among the native populations of northern Cameroon, such as the Kirdi, in west-central Africa, which is believed to reflect a prehistoric back-migration of an ancient proto-Eurasian population into Africa.

Subclade distribution

Paragroup R-M173

Haplogroup R1 contains the majority of representatives of haplogroup R in the form of its subclades, R1a and R1b Rosser 2000, Semino 2000, and Genographic 2011).

R1a

The highest levels of haplogroup R1a (>50%) are found amongst West Bengal Brahmins (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%),^[6] Poles (56.4%), Teleuts (55.3%),^[6] South Altaians (58.1%),^[7] Ukrainians (50%) and Russians (50%) (Semino 2000, Wells 2001, Behar 2003, and Sharma 2007).

R1a has been variously associated with:

• the re-colonization of Eurasia during the Late Glacial Maximum (Semino 2000 and Passarino 2002).
• the expansion of the Kurgan people from the Pontic-Caspian steppe, which is associated with the spread of the Indo-European languages (Semino 2000 and Wells 2001).

The modern studies for R-M173 suggest that it could have originated in South Asia. It could have found its way initially from Western India (Gujarat) through Pakistan and Kashmir, then via Central Asia and Russia, before finally coming to Europe"..."as part of an archaeologically dated Paleolithic movement from east to west 30,000 years ago (Underhill 2009).

R1b

Haplogroup R1b probably originated in Eurasia prior to or during the last glaciation. It is the most common haplogroup in Western Europe and Bashkortostan.(Lobov 2009) It may have survived the LGM,^[8] in refugia near the southern Ural Mountains and Aegean Sea.(Lobov 2009).

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.^[9] 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.^[10] It is also found in North Africa, where its frequency surpasses 10% in some parts of Algeria.

The R1b clade appears to have a much higher degree of internal diversity than R1a, which suggests that the M343 mutation that derives R1b from R-M173* may have occurred considerably earlier than the mutation that defines R1a.

Although it is rare in South Asia, some populations show relatively high percentages for R1b. These include Lambadi showing 37% (Kivisild 2005), Hazara 32% (Sengupta 2005), and Agharia (in East India) at 30% (Sengupta 2005). Besides these, R1b has appeared in Balochi (8%), Chenchu (2%), Makrani (5%), Newars (10.6%), Pallan (3.5%), Indian Punjabis (7.6%) and West Bengalis (6.5%) (Kivisild 2003, Sengupta 2005, and Gayden 2007).

R-M343 (previously called Hg1 and Eu18) is the most frequent Y-chromosome haplogroup in Europe. It is an offshoot of R-M173, characterised by the M343 marker.^[11] 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 emigration, in parts of the Americas). The majority of R-M343-carriers of European descent belong to the R-M269 descendant line.

Phylogenetic trees

This is the structure of Haplogroup R1 according to the ISOGG Y-Tree ^[12]

• R1(R-M173)
  • Haplogroup R1b
    • R1b1(R-P25.1)
      • R1b1a(R-P297)
      • R1b1b(R-M335)
      • R1b1c(R-V88)
  • Haplogroup R1a
    • R1a1(R-M459)
      • R1a1a(R-M512)

See also

• Prehistoric Europe

Genetics

Y-DNA R-M207 subclades

Y-DNA backbone tree

References

Footnotes

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, PMC 1852741, PMID 17436243 
• Behar; Thomas, MG; Skorecki, K; Hammer, MF; Bulygina, E; Rosengarten, D; Jones, AL; Held, K; Moses, V (2003), "Multiple Origins of Ashkenazi Levites: Y Chromosome Evidence for Both Near Eastern and European Ancestries" (PDF), Am. J. Hum. Genet. 73 (4), pp. 768–779, doi:10.1086/378506, PMC 1180600, PMID 13680527 
• Luigi Luca Cavalli-Sforza (1994), The History and Geography of Human Genes, Princeton University Press, ISBN 0-691-08750-4 
• Cinnioğlu, C; et al. (2004), "Excavating Y-chromosome haplotype strata in Anatolia" (PDF), Hum Genet 114 (2): 127–48, doi:10.1007/s00439-003-1031-4, PMID 14586639 
• 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. 10 (9), pp. 521–9, doi:10.1038/sj.ejhg.5200834, PMID 12173029 
• Saha; et al. (2005), "Genetic affinity among five different population groups in India reflecting a Y-chromosome gene flow", J. Hum. Genet. 50 (1), pp. 49–51, doi:10.1007/s10038-004-0219-3, PMID 15611834 
• Semino; et al. (2000), "The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans" (PDF), Science 290 (5494), pp. 1155–9, doi:10.1126/science.290.5494.1155, PMID 11073453  CS1 maint: Explicit use of et al. (link)
• 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. 78 (2), pp. 202–21, doi:10.1086/499411, PMC 1380230, PMID 16400607 
• Soares; et al. (2010), "The Archaeogenetics of Europe" (PDF), Current Biology 20 (4): R174–83, doi:10.1016/j.cub.2009.11.054, PMID 20178764 
• Wells; et al. (2001), "The Eurasian Heartland: A continental perspective on Y-chromosome diversity", Proc. Natl. Acad. Sci. U.S.A. 98 (18), pp. 10244–9, doi:10.1073/pnas.171305098, PMC 56946, PMID 11526236 . Also

In art

Artem took Lukichev animation based on Bashkir epic about the Ural, which outlined the history of the clusters of haplogroup R1: R1a and R1b.^[1]

1. ↑ About R1a and R1b from Ural epic story. Artem Lukichev (c)