Haplogroup R-M420

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Haplogroup R-M420 a.k.a. R1a

R1a1a distribution.png

Possible time of origin Less than 18,500 YBP (Sharma 2009)
Possible place of origin Most probably Eurasia, South Asia, Central Eurasia or West Asia
Ancestor R-M173
Descendants R1a1a1 to R1a1a8
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 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.

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).


Phylogeny[edit]

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.)

Roots of R-M420[edit]

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)[edit]

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)[edit]

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

R-M17/M198 (R1a1a)[edit]

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)[edit]

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

R-Z93 (R1a1a1b2)[edit]

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

Popular science[edit]

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"[edit]

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[citation needed] 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[edit]

Y-DNA R-M207 subclades[edit]

Y-DNA backbone tree[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups
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
I J LT K
L T MP X S
M P NO
Q R N O
  1. ^ van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2013). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. doi:10.1002/humu.22468. PMID 24166809. 

References[edit]

  • 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. doi:10.1002/ajpa.22167. PMID 23115110. 

Further reading[edit]

  • 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. doi:10.1007/s00414-007-0177-3. PMID 17534642. 
  • 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". Journal of Human Genetics 50 (9): 435–441. doi:10.1007/s10038-005-0274-4. PMID 16142507. 
  • Gimbutas (1970). Indo-European and Indo-Europeans. Univ. of Pennsylvania Press, Philadelphia, PA. pp. 155–195. 
  • 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. 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): 132–9. doi:10.1002/ajpa.20500. PMID 17078035. 
  • 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 (December 2001) 80 (3): 125–135. doi:10.1007/BF02717908. PMID 11988631. .
  • Passarino, G; Semino, Ornella; Magria, Chiara; Al-Zahery, Nadia; Benuzzi, Giorgia; Quintana-Murci, Lluis; Andellnovic, Slmun; Bullc-Jakus, Floriana et al. (2001). "The 49a,f haplotype 11 is a new marker of the EU19 lineage that traces migrations from northern regions of the black sea". Hum. Immunol. 62 (9): 922–932. doi:10.1016/S0198-8859(01)00291-9. PMID 11543894. 
  • 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". Journal of Human Genetics 50 (1): 49–51. doi:10.1007/s10038-004-0219-3. PMID 15611834. .
  • 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): e27–8. doi:10.1016/j.fsigen.2008.04.006. PMID 19215861. 
  • Wang, Wei; Wise, Cheryl; Baric, Tom; Black, Michael L.; Bittles, Alan H. (2003). "The origins and genetic structure of three co-resident Chinese Muslim populations: The Salar, Bo'an and Dongxiang". Human Genetics 113 (3): 244–52. doi:10.1007/s00439-003-0948-y. PMID 12759817. 

External links[edit]