Haplogroup R1a: Difference between revisions
RebekahThorn (talk | contribs) →Origins and hypothesized migrations of R1a1a: Moving to R-M17 article |
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==References== |
==References== |
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*{{Cite Journal|ref=Harv|doi=10.1086/380911|last1=Zhivotovsky|first1=L|last2=Underhill|first2=PA|last3=Cinnioğlu|first3=C|last4=Kayser|first4=M|last5=Morar|first5=B|last6=Kivisild|first6=T|last7=Scozzari|first7=R|last8=Cruciani|first8=F|last9=Destro-Bisol|first9=G|title=The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time|journal=Am J Hum Genet|year=2004|volume=74|issue=1|pages=50–61|pmid=14691732|pmc=1181912}} |
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Revision as of 17:08, 6 December 2012
Haplogroup R-M420 | |
---|---|
Possible time of origin | Less than 18,500 YBP[1] |
Possible place of origin | Eurasia, most probably South Asia, Central Eurasia or Southwest Asia |
Ancestor | R1 (R-M173) |
Descendants | R1a1a1 to R1a1a8 |
Defining mutations | M420 (also includes M17, M198, SRY1532.2 and SRY10831.2) |
Highest frequencies | South 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
|
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]
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.
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
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.
2002 Scheme proposed in YCC (2002) | 2009 Scheme as per Underhill et al. (2009) | Latest ISOGG tree as per January 2011 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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See also
- List of R1a frequency by population
- Human Y-chromosome DNA haplogroups
- Genetic history of Europe
- Genetics and Archaeogenetics of South Asia
- Y-chromosome haplogroups by populations
- Nordic R1a Y-DNA Project
- Somerled
- Haplogroup Q (Y-DNA)
Notes
- ^ The Indian origin of paternal haplogroup R1a1* substantiates the autochthonous origin of Brahmins and the caste system
- ^ a b c d e f g h i j Underhill et al. (2009)
- ^ a b ISOGG phylogenetic tree
- ^ Sahoo et al. (2006)
- ^ Regueiro et al. (2006)
- ^ YCC (2002)
- ^ as used in Semino et al. (2000)
- ^ SRY1532.2 is also known as SRY10831.2
- ^ Also identifiable with the standardized SNP reference rs34351054.
References
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