Haplogroup R1,orR-M173,is aY-chromosome DNA haplogroup.A primary subclade ofHaplogroup R(R-M207), it is defined by theSNPM173. The other primary subclade of Haplogroup R isHaplogroup R2(R-M479).

Haplogroup R1
Possible place of originSiberia,Central Asia,South AsiaorSouthwest Asia[1][2][3]
AncestorR(R-M207)
DescendantsR1a(M420),R1b(M343)
Defining mutationsM173/P241/Page29, CTS916/M611/PF5859, CTS997/M612/PF6111, CTS1913/M654, CTS2565/M663, CTS2680, CTS2908/M666/PF6123, CTS3123/M670, CTS3321/M673, CTS4075/M682, CTS5611/M694, CTS7085/M716/Y481, CTS8116/M730, F93/M621/PF6114, F102/M625/PF6116, F132/M632, F211/Y290, F245/M659/Y477, FGC189/Y305, L875/M706/PF6131/YSC0000288, L1352/M785/YSC0000230, M306/PF6147/S1, M640/PF6118, M643, M689, M691/CTS4862/PF6042/YSC0001281, M710/PF6132/YSC0000192, M748/YSC0000207, M781, P225, P231, P233, P234, P236, P238/PF6115, P242/PF6113, P245/PF6117, P286/PF6136, P294/PF6112, PF6120[4]

Males carrying R-M173 in modern populations appear to comprise two subclades:R1aandR1b,which are found mainly in populations native toEurasia(exceptEastandSoutheast Asia). R-M173 contains the majority of representatives of haplogroup R in the form of its subclades, R1a and R1b (Rosser 2000,Semino 2000).

Structure

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Human Y-DNA Phylogenetic Tree
Haplogroup R1
M173 (R1)

Origins

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R1 and its sibling clade R2 (R-M79) are the only immediate descendants ofHaplogroup R(R-M207). R is a direct descendant ofHaplogroup P1(P-M45), and a sibling clade, therefore, ofHaplogroup 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 inwestern Siberiabetween thesouthern UralsandLake Balkhash.[5]

No examples of thebasalsubclade, R1* have yet been identified in living individuals or ancient remains. However, the parent clade, R* was present inUpper Paleolithic-era individuals (24,000 yearsBP), from theMal'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 asAncient 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]

General distribution

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Eurasia

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Haplogroup R1 is very common throughout all ofEurasiaexceptEast AsiaandSoutheast Asia.Its distribution is believed to be associated with the re-settlement of Eurasia following theLast Glacial Maximum.Its main subgroups areR1aandR1b.One subclade of haplogroup R1b (especially R1b1a2), is the most common haplogroup in Western Europe andBashkortostan(Lobov 2009), while a subclade of haplogroup R1a (especiallyhaplogroup R1a1) is the most common haplogroup in large parts ofSouth Asia,Eastern Europe,Central Asia,Western China,andSouth Siberia.[10]

Individuals whose Y-chromosomes possess all the mutations on internal nodes of the Y-DNA tree down to and including M207 (which definesHaplogroup 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 groupR*(R-M207). R* has been found in 10.3% (10/97) of a sample ofBurushoand 6.8% (3/44) of a sample ofKalashfrom northernPakistan(Firasat 2007).

Americas

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The presence of haplogroup R1 amongIndigenous Americansgroups is a matter of controversy. It is now the most common haplogroup after the variousQ-M242,especially inNorth AmericainOjibwepeople at 79%,Chipewyan62%,Seminole50%,Cherokee47%,Dogrib40% andTohono O'odham38%.

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/orBeringia.

Africa

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One subclade, now known as R1b1a2 (R-V88), is found only at high frequencies amongst populations native toWest Africa,such as theFulani,and is believed to reflect a prehistoric back-migration from Eurasia to Africa.[citation needed]

Subclade distribution

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R1a (R-M420)

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The split of R1a (M420) is computed to ca 25,000 years ago (95% CI: 21, 300–29, 000 BP), or roughly thelast 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-dayIran."[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 theEurasian Steppesor theMiddle EastandCaucasusregion.[15]The place of origin of these subclades plays a role in the debate about theorigins of the Indo-Europeans. High frequencies of haplogroup R1a are found amongstWest BengalBrahmins(72%), andUttar PradeshBrahmins, (67%), theIshkashimi(68%), theTajikpopulation ofPanjikent(64%), theKyrgyzpopulation of CentralKyrgyzstan(63.5%),Sorbs(63.39%),BiharBrahmins (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,andSharma 2007).

R1b (R-M343)

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HaplogroupR1bprobably originated inEurasiaprior to or during the last glaciation. It is the most common haplogroup inWestern EuropeandBashkortostan.(Lobov 2009) It may have survived thelast glacial maximum,[19]inrefugianear the southernUral MountainsandAegean 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.[20]Haplogroup R1b is also found at various frequencies in many different populations near theUral MountainsandCentral Asia,its likely region of origin.

There may be a correlation between this haplogroup and the spread ofCentumbranchIndo-European languagesin southern and western Europe. For instance, the modern incidence of R1b reaches between 60% and 90% of the male population in most parts ofSpain,Portugal,France,BritainandIreland.[21]The clade is also found at frequencies of up to 90% in theChad Basin,and is also present inNorth Africa,where its frequency surpasses 10% in some parts ofAlgeria.

Although it is rare inSouth Asia,some populations show relatively high percentages for R1b. These includeLambadishowing 37%(Kivisild 2003).Hazara32% (Sengupta 2005), andAgharia(inEast India) at 30% (Sengupta 2005). Besides these, R1b has appeared inBalochi(8%),Bengalis(6.5%), Chenchu (2%),Makrani(5%),Newars(10.6%), Pallan (3.5%) andPunjabis(7.6%) (Kivisild 2003,Sengupta 2005,andGayden 2007). In Southeast Asia, it is present in the Philippines due to Spanish and American colonization where different studies vary as to its frequency; from 3.6% of the male population, in a year 2001 study conducted byStanford UniversityAsia-Pacific Research Centerhad European Y-DNA R1b to 13% in an Public Y-DNA Library.[22][23][24]

R-M343(previously calledHg1[citation needed]andEu18[citation needed]) is the most frequent Y-chromosome haplogroup inEurope.It is an offshoot of R-M173, characterised by theM343marker.[25]An overwhelming majority of members of R-M343 are classified asR-P25(defined by the P25 marker), the remainder asR-M343*.Its frequency is highest inWestern Europe(and due to modern European immigration, in parts of theAmericas). The majority of R-M343-carriers of European descent belong to theR-M269(R1b1a2) descendant line.

See also

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Genetics

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Y-DNA R-M207 subclades

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References

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  1. ^Kivisild 2003
  2. ^Soares 2010
  3. ^(Wells 2001)[dead link]
  4. ^Y-DNA Haplogroup R and its Subclades – 2008from ISOGG
  5. ^"SNP Tracker".
  6. ^Haak, Wolfgang; Lazaridis, Iosif; Patterson, Nick; Rohland, Nadin; Mallick, Swapan; Llamas, Bastien; Brandt, Guido; Nordenfelt, Susanne; Harney, Eadaoin; Stewardson, Kristin; Fu, Qiaomei (10 February 2015)."Massive migration from the steppe is a source for Indo-European languages in Europe".bioRxiv:013433.arXiv:1502.02783.doi:10.1101/013433.S2CID196643946.
  7. ^Saag, Lehti; Vasilyev, Sergey V.; Varul, Liivi; Kosorukova, Natalia V.; Gerasimov, Dmitri V.; Oshibkina, Svetlana V.; Griffith, Samuel J.; Solnik, Anu; Saag, Lauri; D'Atanasio, Eugenia; Metspalu, Ene (January 2021)."Genetic ancestry changes in Stone to Bronze Age transition in the East European plain".Science Advances.7(4): eabd6535.Bibcode:2021SciA....7.6535S.doi:10.1126/sciadv.abd6535.PMC7817100.PMID33523926.
  8. ^Fu Q, Posth C, Hajdinjak M, Petr M, Mallick S, Fernandes D, et al. (June 2016)."The genetic history of Ice Age Europe".Nature.534(7606): 200–5.Bibcode:2016Natur.534..200F.doi:10.1038/nature17993.hdl:10211.3/198594.PMC4943878.PMID27135931.
  9. ^Haak, Wolfgang; Lazaridis, Iosif; Patterson, Nick; Rohland, Nadin; Mallick, Swapan; Llamas, Bastien; Brandt, Guido; Nordenfelt, Susanne; Harney, Eadaoin; Stewardson, Kristin; Fu, Qiaomei (June 2015)."Massive migration from the steppe was a source for Indo-European languages in Europe".Nature.522(7555): 207–211.arXiv:1502.02783.Bibcode:2015Natur.522..207H.doi:10.1038/nature14317.ISSN1476-4687.PMC5048219.PMID25731166.
  10. ^"Results for R1b1 members".Archived fromthe originalon 13 March 2009.Retrieved27 December2019.
  11. ^Lell Jeffrey T.; Sukernik Rem I.; Starikovskaya Yelena B.; Su Bing; Jin Li; Schurr Theodore G.; Underhill Peter A.; Wallace Douglas C. (2002)."The Dual Origin and Siberian Affinities of Native American".The American Journal of Human Genetics.70(1): 192–206.doi:10.1086/338457.PMC384887.PMID11731934.
  12. ^Raghavan Maanasa; Skoglund Pontus; Graf Kelly E.; Metspalu Mait; Albrechtsen Anders; Moltke Ida; Rasmussen Simon; Thomas W. Stafford Jr; Orlando Ludovic; Metspalu Ene; Karmin Monika; Tambets Kristiina; Rootsi Siiri; Mägi Reedik; Campos Paula F.; Balanovska Elena; Balanovsky Oleg; Khusnutdinova Elza; Litvinov Sergey; Osipova Ludmila P.; Fedorova Sardana A.; Voevoda Mikhail I.; DeGiorgio Michael; Sicheritz-Ponten Thomas; Brunak Søren; et al. (2013)."(2 January 2014)." Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans "".Nature.505(7481): 87–91.Bibcode:2014Natur.505...87R.doi:10.1038/nature12736.PMC4105016.PMID24256729.
  13. ^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
  14. ^Underhill 2014,p. 130.
  15. ^abcPamjav 2012.
  16. ^Underhill 2014.
  17. ^abMiroslava Derenko et al 2005,Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regionsArchived30 March 2022 at theWayback Machine
  18. ^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
  19. ^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.
  20. ^"Variations of R1b Ydna in Europe: Distribution and Origins | WorldFamilies.net".worldfamilies.net.Archived fromthe originalon 9 October 2018.Retrieved27 December2019.
  21. ^"Most Euro men are related to King Tut: DNA testing reveals strange genetic link among Europeans; Oddly, most Egyptians not in the family".Metro NY. Reuters. 2 August 2011. Archived fromthe originalon 23 March 2012.Retrieved14 September2011.
  22. ^"With a sample population of 105 Filipinos, the company ofApplied Biosystems,analysed the Y-DNA of average Filipinos and it is discovered that about 0.95% of the samples have the Y-DNA Haplotype "H1a", which is most common in South Asia and had spread to the Philippines via precolonial Indian missionaries who spread Hinduism and established Indic Rajahnates like Cebu and Butuan. The 13% frequeny of R1b also indicate Spanish admixture ".Archivedfrom the original on 25 May 2017.Retrieved20 October2021.
  23. ^"Manual Collation".Archivedfrom the original on 26 October 2022.Retrieved26 October2022.
  24. ^Philippines DNA ProjectArchived4 February 2023 at theWayback Machine- Y-DNA Classic Chart
  25. ^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

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