Haplogroup R1a: Difference between revisions

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==References==
==References==
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| last6 = Hammer | first6 = MF
| title = New Binary Polymorphisms Reshape and Increase Resolution of the Human Y-Chromosomal Haplogroup Tree
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| url = http://www.genome.org/cgi/content/abstract/gr.7172008v1 Abstract
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Revision as of 17:08, 6 December 2012

Haplogroup R-M420
Possible time of originLess than 18,500 YBP[1]
Possible place of originEurasia, most probably South Asia, Central Eurasia or Southwest Asia
AncestorR1 (R-M173)
DescendantsR1a1a1 to R1a1a8
Defining mutationsM420 (also includes M17, M198, SRY1532.2 and SRY10831.2)
Highest frequenciesSouth Asia, Eastern Europe, Central Asia, Central Europe, Scandinavia and Siberia (See List of R1a frequency by population)

Haplogroup R-M420 is an Eurasian lineage. It is common in many parts of Eurasia and is frequently discussed in human population genetics and genetic genealogy. One sub-clade (branch) of R-M420, currently designated R1a1a, is much more common than the others in all major geographical regions. R1a1a, defined by the SNP mutation M17, is particularly common in a large region extending from South Asia and Southern Siberia to Central Europe and Scandinavia.[2]

Currently, the R-M420 family is defined most broadly by the SNP mutation M420. The recent discovery of M420 resulted in a reorganization of the known family tree of R1a, in particular establishing a new paragroup (designated R1a*) for the relatively rare lineages which are not in the R1a1 branch leading to R1a1a.

R-M420 and R1a1a are believed to have originated somewhere within Eurasia, most likely in the area from Eastern Europe to South Asia. Several recent studies have proposed that South Asia is the most likely region of origin. But on the other hand, as will be discussed below, some researchers continue to treat modern Indian R-M420 as being largely due to immigration from the Central Eurasian steppes or Southwestern Asia.


Phylogeny

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, as has been noted, will be found with various names; in particular, as "R1a1" in relatively recent but not the latest literature.)

Roots of R-M420

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 R1, which is defined by SNP mutation M173. Besides R1a, R1 also has the subclades R1b, defined by the M343 mutation, and the paragroup R1*. There is no simple consensus concerning the places in Eurasia where R1, R1a or R1b evolved.

R-M420

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.[2][3]

Only isolated samples of the new paragroup R-M420* have been found by Underhill et al., 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.[2]

R-SRY1532.2

R-SRY1532.2 is currently defined by SRY1532.2, also referred to as SRY10831.2. SNP mutations understood to be always occurring with SRY1532.2 include M448, M459, and M516.[2] This family of lineages is dominated by the R-M17 branch, which is positive for M17 and M198. The paragroup R-SRY1532.2* (old R1a*) 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 et al. 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.[2] While Sahoo et al. reported R1a*(new R-SRY1532.2*) for 1/15 Himachal Pradesh Rajput samples.[4]

R-M17 (aka R-M198)

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.[2]

Currently, R-M17 has eight subclades of its own defined by mutations, but the vast majority of the incidence has not yet been categorized and is therefore in the paragroup R-M17*.

R1a1a subclades

Currently, of the eight SNP-defined subclades of R1a1a only R1a1a7 (now R1a1a1g) has significant frequencies. R1a1a7 (now R1a1a1g) is defined by M458 and was found almost entirely in Europe, and with low frequency in Turkey and parts of the Caucasus. Its highest frequencies were found in Central and Southern Poland, particularly near the river valleys flowing northwards to the Baltic sea.[2]

R1a1a7 (now R1a1a1g) has its own SNP-defined R1a1a7a subclade, defined by the M334 marker. However this mutation was found only in one Estonian man and may define a very recently founded and small clade.[2]

Relative frequency of R1a1a6 (R-M434) to R1a1a (R-M17)
Region People N R1a1a-M17 R1a1a6-M434
Number Freq. (%) Number Freq. (%)
 Pakistan  Baloch 60 9 15% 5 8%
 Pakistan  Makrani 60 15 25% 4 7%
 Middle East  Oman 121 11 9% 3 2.5%
 Pakistan  Sindhi 134 65 49% 2 1%
Table only shows positive sets from N = 3667 derived from 60 Eurasian populations sample, Underhill et al. (2009)


R1a1a3, defined by the M64.2, M87, and M204 SNP mutations, is apparently rare: it was found in 1 of 117 males typed in southern Iran.

[5]

R1a1a6, defined by M434, was detected in 14 people (out of 3667 people tested) all in a restricted geographical range from Pakistan to Oman. This likely reflects a recent mutation event in Pakistan.[2]

R1a1a STR clusters

Frequency distribution of R1a1a7 (now R1a1a1g) (R-M458)

Genetic genealogists looking at high accuracy STR (microsatellite) haplotypes (as used in genealogy) have also identified clusters of similar within R1a1a. Such clusters equate to groups with probable common ancestry, but with no known SNP defining them yet.

Western Slavic cluster (L260 - R1a1a1g2 )

Gwozdz (2009) has identified two clusters within R1a1a7 (now R1a1a1g) ("P" and "N"). Western Slavic cluster (L260 - R1a1a1g2 ) Cluster P was originally identified by Pawlowski (2002) and apparently accounts for about 8% of Polish men, making it the most common clearly identifiable haplotype cluster in Poland. Outside of Poland it is less common.

Central European cluster (M458 - R1a1a1g)

Cluster N is not concentrated in Poland, but is apparently common in many Slavic areas i.e. Czech republic, Slovakia, Poland, Eastern Germany - Lusatia, Bavaria, Western Ukraine. Archeologically M458 was found in the 14th century graves discovered on Usedom (eastern Germany).

There is also M334 - R1a1a1g1 - one person in Estonia. Gwozdz also identified at least one large cluster of R1a1a* (not having M458), referred to as cluster K. This cluster is common in Poland but not only there. Northern European cluster (L265 - R1a1a1i2) Example is cluster G or L365 - R1a1a1i2 (also called Pomeranian) popular in Pomerania, Baltic coast of Germany (former Abodrite and Veleti areas), former Eastern Prussia, Lithuania.

Klyosov (2009) notes a potential clade identified by a mutation on the relatively stable STR marker DYS388 (to an unusual repeat value of 10, instead of the more common 12), noting that this "is observed in northern and western Europe, mainly in England, Ireland, Norway, and to a much lesser degree in Sweden, Denmark, Netherlands and Germany. In areas further east and south that mutation is practically absent".

Both Gwozdz and Klyosov also note frequent close STR matching between part of the Indian R1a1a population, and part of the Russian and Slavic R1a1a population, indicating apparent links between these populations in a time-frame more recent than the age of R1a1a overall.

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.[6] 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",[7] 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.[8] The discovery of M420 in 2009 has caused a reassignment of these phylogenetic names.[2][3] 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 Underhill et al. (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[9]
 

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

Notes

  1. ^ The Indian origin of paternal haplogroup R1a1* substantiates the autochthonous origin of Brahmins and the caste system
  2. ^ a b c d e f g h i j Underhill et al. (2009)
  3. ^ a b ISOGG phylogenetic tree
  4. ^ Sahoo et al. (2006)
  5. ^ Regueiro et al. (2006)
  6. ^ YCC (2002)
  7. ^ as used in Semino et al. (2000)
  8. ^ SRY1532.2 is also known as SRY10831.2
  9. ^ Also identifiable with the standardized SNP reference rs34351054.

References

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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. doi:10.1016/j.cub.2004.01.024. PMID 14761656.
  • 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". J Hum Genet. 50 (9): 435–441. doi:10.1007/s10038-005-0274-4. PMID 16142507. {{cite journal}}: Invalid |ref=harv (help)
  • Gimbutas (1970). "Indo-European and Indo-Europeans". Univ. of Pennsylvania Press, Philadelphia, PA: 155–195. {{cite journal}}: Cite journal requires |journal= (help)
  • 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" (PDF). Human Genetics. 126 (5): 725–726. doi:10.1007/s00439-009-0747-1.
  • Luca, F; Di Giacomo, F; Benincasa, T; Popa, LO; Banyko, J; Kracmarova, A; Malaspina, P; Novelletto, A; Brdicka, R (2006). "Y-Chromosomal Variation in the Czech Republic". American Journal of Physical Anthropology. 132 (1): 132. doi:10.1002/ajpa.20500. PMID 17078035. {{cite journal}}: Invalid |ref=harv (help)
  • Mukherjee, Namita; Nebel, Almut; Oppenheim, Ariella; Majumder, Partha P. (2001). "High-resolution analysis of Y-chromosomal polymorphisms reveals signatures of population movements from central Asia and West Asia into India". Journal of Genetics. 80 (3) (published December, 2001): 125–135. doi:10.1007/BF02717908. {{cite journal}}: Check date values in: |publication-date= (help); Invalid |ref=harv (help).
  • Pawlowski, R; Dettlaff-Kakol, A; MacIejewska, A; Paszkowska, R; Reichert, M; Jezierski, G (2002). "Population genetics of 9 Y-chromosome STR loci w Northern Poland". Arch. Med. Sadowej Kryminol. 52 (4): 261–277. PMID 14669672.
  • Saha, Anjana; Sharma, S; Bhat, A; Pandit, A; Bamezai, R (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. {{cite journal}}: Invalid |ref=harv (help).
  • Sanchez, J; Børsting, C; Hallenberg, C; Buchard, A; Hernandez, A; Morling, N (2003). "Multiplex PCR and minisequencing of SNPs—a model with 35 Y chromosome SNPs". Forensic Sci Int. 137 (1): 74–84. doi:10.1016/S0379-0738(03)00299-8. PMID 14550618.
  • Völgyi, Antónia; Zalán, Andrea; Szvetnik, Enikő; Pamjav, Horolma (2008). "Hungarian population data for 11 Y-STR and 49 Y-SNP markers". Forensic Science International: Genetics. 3 (2): e27. doi:10.1016/j.fsigen.2008.04.006. PMID 19215861.
  • Wang; et al. (2003). "The origins and genetic structure of three co-resident Chinese Muslim populations: the Salar, Bo'an and Dongxiang". Human Genetics. {{cite journal}}: Explicit use of et al. in: |last= (help); Invalid |ref=harv (help)

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