Haplogroup R1a

Haplogroup R1a
Possible time of origin 22,000 YBP (Sharma 2009)
Possible place of origin Eurasia (see text).
Ancestor Haplogroup R1
Descendants Haplogroup R1a1
Defining mutations L62, L63, L120, M420, M449, M511, M513
Highest frequencies See List of R1a frequency by population

Haplogroup R1a, or haplogroup R-M420, is a common Y DNA haplogroup in many parts of Eurasia. One sub-clade (branch) of R1a, haplogroup R1a1, is much more common than the others in all major geographical regions. R1a1, defined by the single-nucleotide polymorphism (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 R1a family is defined most broadly by the SNP mutation M420, which was discovered after M17. The discovery of M420 resulted in a reorganization of the lineage in particular establishing a new paragroup (designated R-M420*) for the relatively rare lineages which are not in the R-SRY10831.2 (R1a1) branch leading to R-M17.

A large, 2014 study by Underhill et al., using 16,244 individuals from over 126 populations from across Eurasia, concluded there was compelling evidence, that R1a-M420 originated in Iran.[1]

The data on DNA-archeology

Haplogroup R1a was found in the remains of the Corded Ware culture[2][3] and Urnfield culture;[4] as well as the burial of the remains of the Andronovo culture,[5] the Pazyryk culture,[6] Tagar culture[7] and Tashtyk culture,[7] the inhabitants of ancient Tanais,[8] in the Tarim mummies,[9] the aristocracy Xiongnu.[10]

Phylogeny

R1a1a clades

The R1a 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 R1a

Haplogroup R family tree
 
 Haplogroup R  
  Haplogroup R1  
M173
  M420 

  R1a


  M343 

 R1b


?

R1*

 Haplogroup R2



R1a, distinguished by several unique markers including the M420 mutation, is a subclade of Haplogroup R-M173 (previously called R1). R1a has the sister-subclades Haplogroup R1b-M343, and the paragroup R-M173*.

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.[11][12]

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.[13]

R-SRY1532.2 (R1a1)

R1a1 is defined by SRY1532.2 or SRY10831.2), understood to always include SRY10831.2, M448, L122, M459, and M516.[11][14] This family of lineages is dominated by M17 and M198. In contrast, paragroup R-SRY1532.2* 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[13] reported 1/51 in Norway, 3/305 in Sweden, 1/57 Greek Macedonians, 1/150 Iranians, 2/734 ethnic Armenians, and 1/141 Kabardians. While Sahoo[15] reported R-SRY1532.2* for 1/15 Himachal Pradesh Rajput samples.

R-M17/M198 (R1a1a)

For more details on Haplogroup R-M17, see Haplogroup R-M17 (Y-DNA).

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.[16] 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.[17]

R-Z93 (R1a1a1b2)

This large subclade appears to encompass most of the R1a1a found in Asia.[17]

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 naming 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 (YCC 2002), which has now become standard. 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


M157
 

R1a1a1b


 M64.2,..
 

R1a1a1c


P98
 

R1a1a1d


PK5
 

R1a1a1e


M434
 

R1a1a1f


 Z283 
 

 R1a1a1g*


 M458 
 

 R1a1a1g1*


 
M334 
 

 R1a1a1g1a



L260 
 

 R1a1a1g1b





 Z280 
 

 R1a1a1g2*


 
P278.2 
 

 R1a1a1g2a



L365 
 

 R1a1a1g2b



L366 
 

 R1a1a1g2c



Z92 
 

 R1a1a1g2d



 Z284 
 

 R1a1a1g3*


 
P278.2 
 

 R1a1a1g3a




 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 haplogroups [χ 1][χ 2]
"Y-chromosomal Adam"
A00 A0-T [χ 3]
A0 A1[χ 4]
A1a A1b
A1b1 BT
B CT
DE CF
D E C F
F1 F2 F3 GHIJK
G HIJK
H IJK
IJ K
I J LT [χ 5]  K2
L T NO [χ 6] K2b [χ 7]   K2c K2d K2e [χ 8]
N O K2b1 [χ 9]    P
M S [χ 10] 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. doi:10.1002/humu.22468. PMID 24166809.
  2. ↑ International Society of Genetic Genealogy (ISOGG; 2015), Y-DNA Haplogroup Tree 2015. (Access date: 1 February 2015.)
  3. ↑ Haplogroup A0-T is also known as A0'1'2'3'4.
  4. ↑ Haplogroup A1 is also known as A1'2'3'4.
  5. ↑ Haplogroup LT (L298/P326) is also known as Haplogroup K1.
  6. ↑ Haplogroup NO (M214) is also known as Haplogroup K2a (although the present Haplogroup K2e was also previously known as "K2a").
  7. ↑ Haplogroup K2b (M1221/P331/PF5911) is also known as Haplogroup MPS.
  8. ↑ Haplogroup K2e (K-M147) was previously known as "Haplogroup X" and "K2a" (but is a sibling subclade of the present K2a, also known as Haplogroup NO).
  9. ↑ Haplogroup K2b1 (P397/P399) is similar to the former Haplogroup MS, but has a broader and more complex internal structure.
  10. ↑ Haplogroup S (S-M230) was previously known as Haplogroup K5.

In art

Artem Lukichev created an animation based on the Bashkir epic about the Ural, which outlined the history of the clusters of haplogroup R1: R1a and R1b.[18]

References

  1. ↑ http://www.nature.com/ejhg/journal/v23/n1/pdf/ejhg201450a.pdf
  2. ↑ 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)
  3. ↑ Brandit, G (2013). "Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity". Science 342 (6155): 257–261. doi:10.1126/science.1241844.
  4. ↑ Schweitzer D. Lichtenstein Cave Data Analysis, 2008.
  5. ↑ [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]
  6. ↑ Ricaut, F.; et al. (2004). "Genetic Analysis of a Scytho-Siberian Skeleton and Its Implications for Ancient Central Asian Migrations". Human Biology 76: 1.
  7. 1 2 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
  8. ↑ 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.
  9. ↑ Chunxiang Li, etc. Evidence that a West-East admixed population lived in the Tarim Basin as early as the early Bronze Age
  10. ↑ Kim, K.; et al. (Jul 2010). "A western Eurasian male is found in 2000-year-old elite Xiongnu cemetery in Northeast Mongolia". Am J Phys Anthropol 142 (3): 429–40. doi:10.1002/ajpa.21242. PMID 20091844.
  11. 1 2 Underhill 2009
  12. ↑ ISOGG 2012)
  13. 1 2 (Underhill 2009)
  14. ↑ Krahn 2012)
  15. ↑ (Sahoo 2006)
  16. ↑ (Underhill 2009).
  17. 1 2 (Pamjav 2012).
  18. ↑ About R1a and R1b from Ural epic story. Artem Lukichev (c)

Further reading

External links

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