Haplogroup R-M173

In human genetics, 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, R-M420 and R-M343, which together are found all over Eurasia except in Southeast Asia and East Asia.^{[citation needed]} However, other types of R-M173, 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 Africa and all over Asia and Oceania.

Origins

The origins of R-M173 remain unclear. Haplogroup R-M207 is part of the family of haplogroup P-M45, and a sibling clade, therefore, of haplogroup Q-M242, which is common in the Americas and Eurasia. In Eurasia, Q-M242's geography includes eastern areas such as Siberia. Based on these ancestral lineages, an inferred origin for R-M173 to the 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 "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.

Distribution

Haplogroup R-M173 is fairly common throughout Europe, South Asia and Central Asia. It also occurs in Africa, Near East and Native Americans from North America. Low frequencies in Siberia, Malay Archipelago and Indigenous Australians (Kayser 2002).

Eurasia

R-M173 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 R-M420 and R-M343. One subclade of haplogroup R-M343 (especially R-M269), is the most common haplogroup in Western Europe and Bashkortostan (Lobov 2009), while another R-M420 (especially R-M17 aka R-M98) 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-M207) but which display neither the M173 mutation that defines Haplogroup R-M173 nor the M479 mutation that defines Haplogroup R2 are categorized as belonging to group R-M207*. Haplogroup 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

In Indigenous Americans groups, R-M173 is 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-M207 from Northeastern to Southwestern North America is evidence that this results from European admixture (Malhi 2008).

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.^{[citation needed]}

Subclade distribution

Paragroup R-M173

Distribution of the two major R-M173 branches: R-M420 (purple) and R-M343 (red)

Haplogroup R-M173 contains the majority of representatives of haplogroup R in the form of its subclades, R1a and R1b Rosser 2000, Semino 2000, and Genographic 2011).

R-M420

The highest levels of R-M420 (>50%) are found across the Eurasian Steppe: Khotons of Uvs Province (82.5%),^[3] 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%),^[4] Poles (56.4%), Teleuts (55.3%),^[4] South Altaians (58.1%),^[5] Ukrainians (50%) and Russians (50%) (Semino 2000, Wells 2001, Behar 2003, and Sharma 2007).

R-M420 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-M17 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).

R-M343

Haplogroup R-M343 probably originated in Eurasia prior to or during the last glaciation. It is the most common haplogroup in Western Europe, Bashkortostan (Lobov 2009) and may have survived the LGM concentrated in refugia in southern Europe, Aegean and Bashkortostan (Lobov 2009).

It is also present at lower frequencies throughout Eastern Europe, with higher diversity than in western Europe, suggesting an ancient migration of R-M343 from the east.^[6] R-M343 is also found at various frequencies in many different populations near the Ural Mountains and Central Asia, its likely region of origin.

The frequency is about 70% in Spain and 60% in France.^[7] In south-eastern England the frequency of R-M343 is about 70%;^[7] in parts of the rest of north and western England, Spain, Portugal, Wales and Ireland, it is as high as 90%; and in parts of north-western Ireland it reaches 98%.It is also found in North Africa where its frequency surpasses 10% in some parts of Algeria.^[8]

The R-M343 clade appears to have a much higher degree of internal diversity than R-M420, which suggests that the M343 mutation that derives R-M343 from R-M173* may have occurred considerably earlier than the mutation that defines R-M420.^{[citation needed]}

Although it is rare in South Asia, some populations show relatively high percentages for R-M343. These include Lambadi showing 37% (Kivisild 2005), Hazara 32% (Sengupta 2005), and Agharia (in East India) at 30% (Sengupta 2005). Besides these, R-M343 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^{[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.^[9] 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

There are several confirmed and proposed phylogenetic trees available for haplogroup R-M207. The scientifically accepted one is the Y-Chromosome Consortium (YCC) one published in Karafet 2008 and subsequently updated. A draft tree that shows emerging science is provided by Thomas Krahn at the Genomic Research Center in Houston, Texas. The International Society of Genetic Genealogy (ISOGG) also provides an amateur tree.

The Genomic Research Center draft tree

This is Thomas Krahn at the Genomic Research Center's draft tree Proposed Tree for haplogroup R-M207. The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages (Krahn 2012).

• R-M207 M207, P224, P227, P229, P232, P280, P285, L248.2, L1031
  • R-M173 M173, M306, P231, P233, P234, P236, P238, P241, P242, P245, P286, P294
    • R-M343 M343, L278
      • 'R-P25.1 P25.1
    • R-M420 L62, L63, L120, M420, M449, M511, M513
      • R-M459 SRY10831.2, M448, L122, M459, M516
  • R-M479 M479

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", Am. J. Hum. Genet. 73 (4): 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", 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): 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): 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): 1155, doi:10.1126/science.290.5494.1155, PMID 11073453 
• 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): 202–21, doi:10.1086/499411, PMC 1380230, PMID 16400607 
• Soares et al. (2010), "The Archaeogenetics of Europe", 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): 10244–9, doi:10.1073/pnas.171305098, PMC 56946, PMID 11526236 . Also

See also

• Prehistoric Europe

Genetics

Y-DNA R-M207 subclades

Y-DNA backbone tree