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Haplogroup R1a

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Haplogroup R1a

Haplogroup R-M420 a.k.a. R1a

Possible time of origin Less than 18,500 YBP (Sharma 2009)
Possible place of origin Eurasia (see text).
Ancestor R-M173
Descendants R1a1-z83 R1a1-z93 [1]
Defining mutations L62, L63, L120, M420, M449, M511, M513
Highest frequencies See List of R1a frequency by population

R-M420 (R1a) is a common Y DNA haplogroup in many parts of Eurasia. One sub-clade (branch) of R-M420, R-M17 (R1a1a), is much more common than the others in all major geographical regions. R-M17, defined by the SNP mutation M17, (and sometimes alternatively defined as R-M198), is particularly common in a large region extending from South Asia and Southern Siberia to Central Europe and Scandinavia.(Underhill 2009)

The R-M420 family is defined most broadly by the paragroup (designated R-M420*) for the relatively rare lineages which are not in the R-SRY10831.2 (R1a1) branch leading to R-M17.

R-M420 and R-M17 are believed to have originated somewhere within Eurasia, most likely in the area from Central Europe to South Asia inclusive (see R-M17 for details on proposed origins).

Contents

  • The data on DNA-archeology 1
  • Phylogeny 2
    • Roots of R-M420 2.1
    • R-M420 (R1a) 2.2
    • R-SRY1532.2 (R1a1) 2.3
    • R-M17/M198 (R1a1a) 2.4
    • R-Z283 (R1a1a1b1) 2.5
    • R-Z93 (R1a1a1b2) 2.6
  • Popular science 3
  • Historic meanings of "R1a" 4
  • See also 5
    • Y-DNA R-M207 subclades 5.1
    • Y-DNA backbone tree 5.2
  • References 6
  • Further reading 7
  • In art 8
  • External links 9


The data on DNA-archeology

Haplogroup R1a was found in the remains of the Corded Ware culture[1][2] and Urnfield culture;[3] as well as the burial of the remains of the Andronovo culture,[4] the Pazyryk culture,[5] Tagar culture[6] and Tashtyk culture,[6] the inhabitants of ancient Tanais,[7] in the Tarim mummies,[8] the aristocracy Xiongnu.[9]

Phylogeny

R1a1a clades

The R-M420 family tree now has three major levels of branching, with the largest number of defined subclades within the dominant and best known branch, R1a1a (which will be found with various names; in particular, as "R1a1" in relatively recent but not the latest literature.)

Indo-European migrations, often thought to be linked with R1a1a

Roots of R-M420

Haplogroup R family tree
 
 Haplogroup R  
  Haplogroup R1  
M173
  M420    R1a

  M343   R1b

? R1*



 Haplogroup R2


R-M420, distinguished by several unique markers including the M420 mutation, is a subclade of Haplogroup R-M173 (previously called R1), which is defined by SNP mutation M173. Besides R-M420, R-M173 also has the subclades R-M343 (previously called R1b), defined by the M343 mutation, and the paragroup R-M173*. There is no simple consensus concerning the places in Eurasia where R-M173, R-M420 or R-M343 evolved.

R-M420 (R1a)

R-M420, defined by the mutation M420, has two branches: R-SRY1532.2, defined by the mutation SRY1532.2, which makes up the vast majority; and R-M420*, the paragroup, defined as M420 positive but SRY1532.2 negative. (In the 2002 scheme, this SRY1532.2 negative minority was one part of the relatively rare group classified as the paragroup R1*.) Mutations understood to be equivalent to M420 include M449, M511, M513, L62, and L63.(Underhill 2009 and ISOGG 2012)

Only isolated samples of the new paragroup R-M420* were found by Underhill 2009, mostly in the Middle East and Caucasus: 1/121 Omanis, 2/150 Iranians, 1/164 in the United Arab Emirates, and 3/612 in Turkey. Testing of 7224 more males in 73 other Eurasian populations showed no sign of this category.(Underhill 2009)

R-SRY1532.2 (R1a1)

R-SRY1532.2 is defined by SRY1532.2, also referred to as SRY10831.2. SNP mutations understood to be always occurring with SRY1532.2 include SRY10831.2, M448, L122, M459, and M516 (Underhill 2009 and Krahn 2012). This family of lineages is dominated by the R-M17 branch, which is positive for M17 and M198. The paragroup R-SRY1532.2* is positive for the SRY1532.2 marker but lacks either the M17 or M198 markers.

The R-SRY1532.2* paragroup is apparently less rare than R1* but still relatively unusual, though it has been tested in more than one survey. Underhill 2009 for example report 1/51 in Norway, 3/305 in Sweden, 1/57 Greek Macedonians, 1/150 Iranians, 2/734 Ethnic Armenians, and 1/141 Kabardians.(Underhill 2009) While Sahoo 2006 reported R-SRY1532.2* for 1/15 Himachal Pradesh Rajput samples (Sahoo 2006).

Distribution of haplogroup R1a in Central Europe
Frequency of R1a in Europe

R-M17/M198 (R1a1a)

R-M17 makes up the vast majority of all R-M420 over its entire geographic range. It is defined by SNP mutations M17 or M198, which have always appeared together in the same men so far. SNP mutations understood to be always occurring with M17 and M198 include M417, M512, M514, M515 (Underhill 2009). R-M17 has many subclades of its own defined by mutations. Two important subclades appear to broadly divide the European and Asian parts of this large clade:

R-Z283 (R1a1a1b1)

This large subclade appears to encompass most of the R1a1a found in Europe (Pamjav 2012).

R-Z93 (R1a1a1b2)

This large subclade appears to encompass most of the R1a1a found in Asia (Pamjav 2012).

Popular science

Bryan Sykes in his book Blood of the Isles gives imaginative names to the founders or "clan patriarchs" of major British Y haplogroups, much as he did for mitochondrial haplogroups in his work The Seven Daughters of Eve. He named R1a1a in Europe the "clan" of a "patriarch" Sigurd, reflecting the theory that R1a1a in the British Isles has Norse origins.

Historic meanings of "R1a"

The historic naming system commonly used for R1a was inconsistent in different published sources, because it changed often, this requires some explanation.

In 2002, the Y chromosome consortium (YCC) proposed a new naming system for haplogroups, which has now become standard.(YCC 2002) In this system, names with the format "R1" and "R1a" are "phylogenetic" names, aimed at marking positions in a family tree. Names of SNP mutations can also be used to name clades or haplogroups. For example, as M173 is currently the defining mutation of R1, R1 is also R-M173, a "mutational" clade name. When a new branching in a tree is discovered, some phylogenetic names will change, but by definition all mutational names will remain the same.

The widely occurring haplogroup defined by mutation M17 was known by various names, such as "Eu19", as used in (Semino 2000) in the older naming systems. The 2002 YCC proposal assigned the name R1a to the haplogroup defined by mutation SRY1532.2. This included Eu19 (i.e. R-M17) as a subclade, so Eu19 was named R1a1. Note, SRY1532.2 is also known as SRY10831.2 The discovery of M420 in 2009 has caused a reassignment of these phylogenetic names.(Underhill 2009 and ISOGG 2012) R1a is now defined by the M420 mutation: in this updated tree, the subclade defined by SRY1532.2 has moved from R1a to R1a1, and Eu19 (R-M17) from R1a1 to R1a1a.

More recent updates recorded at the ISOGG reference webpage involve branches of R-M17, including one major branch, R-M417.

Contrasting family trees for R1a, showing the evolution of understanding of this clade
2002 Scheme proposed in (YCC 2002) 2009 Scheme as per (2009) Latest ISOGG tree as per January 2011
As M420 went undetected, M420 lineages were classified as either R1* or R1a (SRY1532.2, also known as SRY10831.2)
R1
 M173  
R1*  All cases without M343 or SRY1532.2 (including a minority M420+ cases)

R1a
 SRY1532.2 
  (SRY10831.2)  

R1a* 

 
R1a1
 M17, M198 

 R1a1*

 M56   R1a1a

 M157   R1a1b

 M87, M204
M64.2
 
 R1a1c



R1b
M343
 sibling clade to R1a


After 2009, a new layer was inserted covering all old R1a, plus its closest known relatives
R1
 M173  
R1*  All cases without M343 or M420 (smaller than old "R1a*")

R1a 
M420 

  R1a* All cases with M420 but without SRY1532.2

R1a1 
SRY1532.2 


  R1a1*(Old R1a*)


 R1a1a 
 M17, M198 

R1a1a*

M56
 
R1a1a1

M157
 
R1a1a2

 M64.2,..
 
R1a1a3

P98
 
R1a1a4

PK5
 
R1a1a5

M434
 
R1a1a6

 M458 
 

 R1a1a7*

 
M334 
 
 R1a1a7a


 Page68 R1a1a8




R1b
M343
 Sibling clade to R1a (same as before)



Latest information
R1
M173

R1* (As before)

M420

R1a* (As before)

SRY1532.2

R1a1* (As before)

M17


R1a1a* (As before)


R1a1a1
M417,Page7

R1a1a1*

M56
 
R1a1a1a

 Z280 
 

 R1a1a1g2*

 
P278.2 
 
 R1a1a1g2a


L365 
 
 R1a1a1g2b


L366 
 
 R1a1a1g2c


Z92 
 
 R1a1a1g2d


 Z284 
 

 R1a1a1g3*

 
P278.2 
 
 R1a1a1g3a


P98
 
R1a1a1d

PK5
 
R1a1a1e

M434
 
R1a1a1f

 Z283 
 

 R1a1a1g*

 M458 
 

 R1a1a1g1*

 
M334 
 
 R1a1a1g1a


L260 
 
 R1a1a1g1b



 Z93

 R1a1a1h*

 
L342.2 
 

 R1a1a1h1*

 
L657 
 
 R1a1a1h1a







R1b
M343
Sibling clade to R1a (same as before)



See also

Y-DNA R-M207 subclades

Y-DNA backbone tree

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
  • Minimal reference phylogeny for the human Y chromosome (ver. 10-Jun-2014)PDF[n 1]
MRC Y-ancestor
A00 A0'1'2'3'4
A0 A1'2'3'4
A1 A2'3'4
A2'3 A4=BCDEF
A2 A3 B CDEF
DE CF
D E C F
GHIJKLT
G HIJKLT
H IJKLT
IJ KLT (K)
I J LT(K1) K (K2)
L T MPS (K2b) X (K2a)
MS P NO
M S QR N O
Q R
  1. ^ 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.  

References

  • "Y-DNA Haplogroup R and its Subclades". International Society of Genetic Genealogy (ISOGG). Retrieved 8 January 2011. 
  • Krahn, Thomas;  
  • Pamjav, Horolma; Fehér, Tibor; Németh, Endre; Pádár, Zsolt (2012). "Brief communication: new Y-chromosome binary markers improve phylogenetic resolution within haplogroup R1a1". American Journal of Physical Anthropology 149 (4): 611–615.  
  • Sahoo, S; Singh, A; Himabindu, G; Banerjee, J; Sitalaximi, T; Gaikwad, S; Trivedi, R; Endicott, P et al. (2006). "A prehistory of Indian Y chromosomes: Evaluating demic diffusion scenarios". Proceedings of the National Academy of Sciences 103 (4): 843–848.  
  • Sharma, S; Rai, E; Sharma, P; Jena, M; Singh, S; Darvishi, K; Bhat, AK; Bhanwer, AJ et al. (2009). "The Indian origin of paternal haplogroup R1a1(*)substantiates the autochthonous origin of Brahmins and the caste system". Journal of Human Genetics 54 (1): 47–55.  
  • Semino, O.; Passarino, G; Oefner, PJ; Lin, AA; Arbuzova, S; Beckman, LE; De Benedictis, G; Francalacci, P et al. (2000). in Extant Europeans: A Y Chromosome Perspective"Homo sapiens sapiens"The Genetic Legacy of Paleolithic . Science 290 (5494): 1155–59.  . Copy can be found at http://www.historyofmacedonia.org/ConciseMacedonia/Y_Hromosomes.pdf.
  • Underhill, Peter A; Myres, Natalie M; Rootsi, Siiri; Metspalu, Mait; Zhivotovsky, Lev A; King, Roy J; Lin, Alice A; Chow, Cheryl-Emiliane T et al. (2009). "Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a". European Journal of Human Genetics 18 (4): 479–84.  
  • Y Chromosome Consortium "YCC" (2002). "A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups". Genome Research 12 (2): 339–348.  
  1. ^ Haak W. Ancient DNA, Strontium isotopes, and osteological analyses shed light on social and kinship organization of the Later Stone Age//Stanford University, Stanford, CA, and approved October 3, 2008 (received for review August 5, 2008)
  2. ^ Brandit G. Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity//Science 11 October 2013: Vol. 342 no. 6155 pp. 257—261 DOI: 10.1126/science.1241844
  3. ^ Schweitzer D. Lichtenstein Cave Data Analysis, 2008.
  4. ^ [Keyser C. and etc. Ancient DNA provides new insights into the history of south Siberian Kurgan people//Hum Genet (2009) 126:395-410DOI 10.1007/s00439-009-0683-0]
  5. ^ Ricaut, F. et al. 2004. Genetic Analysis of a Scytho-Siberian Skeleton and Its Implications for Ancient Central Asian Migrations. Human Biology. 76 (1)
  6. ^ a b Keyser C. etc. Ancient DNA provides new insights into the history of south Siberian Kurgan people//Hum Genet (2009) 126:395-410DOI 10.1007/s00439-009-0683-0
  7. ^ Корниенко И. В., Водолажский Д. И. Использование нерекомбинантных маркеров Y-хромосомы в исследованиях древних популяций (на примере поселения Танаис)//Материалы Донских антропологических чтений. Ростов-на-Дону, Ростовский научно-исследовательский онкологический институт, Ростов-на-Дону, 2013.
  8. ^ Chunxiang Li and etc. Evidence that a West-East admixed population lived in the Tarim Basin as early as the early Bronze Age
  9. ^ Kim K. and etc. A western Eurasian male is found in 2000-year-old elite Xiongnu cemetery in Northeast Mongolia//Am J Phys Anthropol. 2010 Jul;142(3):429-40. doi: 10.1002/ajpa.21242

Further reading

  • Adams, Susan M.; Bosch, E; Balaresque, PL; Ballereau, SJ; Lee, AC; Arroyo, E; López-Parra, AM; Aler, M et al. (2008). "The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula". American Journal of Human Genetics 83 (6): 725–36.  
  • Al Zahery, N.; Semino, O.; Benuzzi, G.; Magri, C.; Passarino, G.; Torroni, A.; Santachiara-Benerecetti, A.S. (2003). "Y-chromosome and mtDNA polymorphisms in Iraq, a crossroad of the early human dispersal and of post-Neolithic migrations". Molecular Phylogenetics and Evolution 28 (3): 458–72.  
  • Balanovsky, O; Rootsi, S; Pshenichnov, A; Kivisild, T; Churnosov, M; Evseeva, I; Pocheshkhova, E; Boldyreva, M et al. (2008). "Two Sources of the Russian Patrilineal Heritage in Their Eurasian Context". AJHG 82 (1): 236–250.  
  • Bamshad, M.; Kivisild, T; Watkins, WS; Dixon, ME; Ricker, CE; Rao, BB; Naidu, JM; Prasad, BV et al. (2001). "Genetic evidence on the origins of Indian caste populations". Genome Research 11 (6): 994–1004.  .
  • Barać, Lovorka; Pericić, Marijana; Klarić, Irena Martinović; Rootsi, Siiri; Janićijević, Branka; Kivisild, Toomas; Parik, Jüri; Rudan, Igor et al. (July 2003). "Y chromosomal heritage of Croatian population and its island isolates". European Journal of Human Genetics 11 (7): 535–42.  
  • Battaglia, Vincenza; Fornarino, S; Al-Zahery, N; Olivieri, A; Pala, M; Myres, NM; King, RJ; Rootsi, S et al. (2008). "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe". European Journal of Human Genetics 17 (6): 820–30.  
  • Behar, D; Thomas, MG; Skorecki, K; Hammer, MF; Bulygina, E; Rosengarten, D; Jones, AL; Held, K et al. (2003). "Multiple Origins of Ashkenazi Levites: Y Chromosome Evidence for Both Near Eastern and European Ancestries" (– Scholar search). American Journal of Human Genetics 73 (4): 768–779.   . Also at http://www.ucl.ac.uk/tcga/tcgapdf/Behar-AJHG-03.pdf and http://www.familytreedna.com/pdf/400971.pdf
  • Bouakaze, C.; Keyser, C; Amory, S; Crubézy, E; Ludes, B (2007). "First successful assay of Y-SNP typing by SNaPshot minisequencing on ancient DNA". International Journal of Legal Medicine 121 (6): 493–9.  
  • Bowden, G. R.; Balaresque, P; King, TE; Hansen, Z; Lee, AC; Pergl-Wilson, G; Hurley, E; Roberts, SJ et al. (2008). "Excavating Past Population Structures by Surname-Based Sampling: The Genetic Legacy of the Vikings in Northwest England". Molecular Biology and Evolution 25 (2): 301–309.  
  • Braya, Steven; Mullea, Jennifer; Dodda, Anne; Pulver, Ann; Wooding, Stephen; Warren, Stephen (2010). "Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population". PNAS 107 (37): 16222–16227.  
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  • Cordaux, Richard; Aunger, R; Bentley, G; Nasidze, I; Sirajuddin, SM; Stoneking, M (2004). "Independent Origins of Indian Caste and Tribal Paternal Lineages". Current Biology 14 (3): 231–235.  
  • Dupuy, Berit Myhre; Stenersen, M; Lu, TT; Olaisen, B (2005). "Geographical heterogeneity of Y-chromosomal lineages in Norway". Forensic Science International 164 (1): 10–19.  
  • Firasat, Sadaf; Khaliq, S; Mohyuddin, A; Papaioannou, M; Tyler-Smith, C; Underhill, PA; Ayub, Q (2006). "Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan". European Journal of Human Genetics 15 (1): 121–126.  
  • Flores, Carlos; Maca-Meyer, N; Larruga, JM; Cabrera, VM; Karadsheh, N; Gonzalez, AM (2005). "Isolates in a corridor of migrations: a high-resolution analysis of Y-chromosome variation in Jordan". Journal of Human Genetics 50 (9): 435–441.  
  • Fornarino, Simona; Pala, Maria; Battaglia, Vincenza; Maranta, Ramona; Achilli, Alessandro; Modiano, Guido; Torroni, Antonio; Semino, Ornella; Santachiara-Benerecetti, Silvana A (2009). "Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation". BMC Evolutionary Biology 9: 154.  
  • Gimbutas (1970). Indo-European and Indo-Europeans. Univ. of Pennsylvania Press, Philadelphia, PA. pp. 155–195. 
  • Gwozdz (2009). "Y-STR Mountains in Haplospace, Part II: Application to Common Polish Clades". Journal of Genetic Genealogy 5 (2). 
  • Haak, W.; Brandt, G.; Jong, H. N. d.; Meyer, C.; Ganslmeier, R.; Heyd, V.; Hawkesworth, C.; Pike, A. W. G. et al. (2008). "Ancient DNA, Strontium isotopes, and osteological analyses shed light on social and kinship organization of the Later Stone Age". Proceedings of the National Academy of Sciences 105 (47): 18226–18231.  
  • Hammer, Michael F.; Behar, Doron M.; Karafet, Tatiana M.; Mendez, Fernando L.; Hallmark, Brian; Erez, Tamar; Zhivotovsky, Lev A.; Rosset, Saharon; Skorecki, Karl (2009). "Response". Human Genetics 126 (5): 725–726.  
  • Helgason, A; Sigureardottir, S; Nicholson, J; Sykes, B; Hill, E; Bradley, D; Bosnes, V; Gulcher, J et al. (2000). "Estimating Scandinavian and Gaelic Ancestry in the Male Settlers of Iceland". American Journal of Human Genetics 67 (3): 697–717.  
  • Karafet, TM; Mendez, FL; Meilerman, MB; Underhill, PA; Zegura, SL; Hammer, MF (May 2008). Abstract "New Binary Polymorphisms Reshape and Increase Resolution of the Human Y-Chromosomal Haplogroup Tree". Genome Research 18 (5): 830–8.  . Published online April 2, 2008. See also Supplementary Material.
  • Kasperaviciūte, D.; Kucinskas, V.; Stoneking, M. (2005). "Y Chromosome and Mitochondrial DNA Variation in Lithuanians". Annals of Human Genetics 68 (5): 438–452.  
  • Kayser, M; Lao, O; Anslinger, K; Augustin, C; Bargel, G; Edelmann, J; Elias, S; Heinrich, M et al. (2005). "Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis". Human Genetics 117 (5): 428–443.   A copy can be found here [2].
  • Keyser et al. (2009). "Ancient DNA provides new insights into the history of south Siberian Kurgan people". Human Genetics 126 (3): 395–410.  
  • Kharkov, V. N.; Stepanov, V. A.; Borinskaya, S. A.; Kozhekbaeva, Zh. M.; Gusar, V. A.; Grechanina, E. Ya.; Puzyrev, V. P.; Khusnutdinova, E. K.; Yankovsky, N. K. (2004). "Gene Pool Structure of Eastern Ukrainians as Inferred from the Y-Chromosome Haplogroups". Russian Journal of Genetics 40 (3): 326.   A copy can be found here [3].
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  • King, RJ; Ozcan, SS; Carter, T; Kalfoğlu, E; Atasoy, S; Triantaphyllidis, C; Kouvatsi, A; Lin, AA et al. (2008). "Differential Y-chromosome Anatolian Influences on the Greek and Cretan Neolithic". Annals of Human Genetics 72 (Pt 2): 205–214.  
  • Kivisild, T; Rootsi, S; Metspalu, M; Mastana, S; Kaldma, K; Parik, J; Metspalu, E; Adojaan, M et al. (2003). "The Genetic Heritage of the Earliest Settlers Persists Both in Indian Tribal and Caste Populations". AJHG 72 (2): 313–32.  .
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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]

External links

  • FTDNA R1a Y-chromosome Haplogroup Project
  • R1a1a1 and Subclades Y-DNA Project – Background Family Tree DNA R1a1a1
  • Danish Demes Regional DNA Project: Y-DNA Haplogroup R1a
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