Haplogroup R1

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Haplogroup R1
Possible time of origin 12,500–25,700 years BP (Karafet 2008)
Possible place of origin Central Asia
Ancestor Haplogroup R
Descendants Haplogroup R1a, haplogroup R1b
Defining mutations M173[1]

Haplogroup R1, or haplogroup R-M173, is a Y-chromosome DNA haplogroup, a subgroup of haplogroup R, associated with the M173 mutation. It is dominated in modern populations by two Eurasian clades, haplogroup R1a and haplogroup R1b, which together are found all over Eurasia except in Southeast Asia. However, other types of haplogroup R1, less well-known and undefined so far by any identified SNP, and therefore referred to collectively simply as R-M173*, have been reported in the Americas[citation needed] and all over Asia and Oceania.

Origins[edit]

The origins of haplogroup R1 remain unclear. Haplogroup R is part of the family of haplogroup P-M45, and a sibling clade, therefore, of haplogroup Q-M242, which is common in the Americas and Eurasia. In Eurasia, Q-M242's geography includes eastern areas such as Siberia.

Based on its ancestral lineages, an inferred origin for haplogroup R1 is somewhere east of West Asia. For example, Kivisild 2003 believes the evidence "suggests that southern and western Asia might be the source of this haplogroup" and that "given the geographic spread and STR diversities of sister clades R1 and R2, the latter of which is restricted to India, Pakistan, Iran, and southern central Asia, it is possible that southern and western Asia were the source for R1 and R1a differentiation." Soares 2010 felt in their review of the literature, that the case for South Asian origins is strongest, with the Central Asian origin argued by (Wells 2001) being also worthy of consideration.

Eurasia[edit]

Haplogroup R1 is very common throughout all of Eurasia except East Asia and Southeast Asia. Its distribution is believed to be associated with the re-settlement of Eurasia following the last glacial maximum. Its main subgroups are R1a and R1b. One subclade of haplogroup R1b (especially R1b1a2), is the most common haplogroup in Western Europe and Bashkortostan (Lobov 2009), while a subclade of haplogroup R1a (especially haplogroup R1a1) is the most common haplogroup in large parts of South Asia, Eastern Europe, Central Asia, Western China, and South Siberia.[2]

Individuals whose Y-chromosomes possess all the mutations on internal nodes of the Y-DNA tree down to and including M207 (which defines Haplogroup R) but which display neither the M173 mutation that defines haplogroup R1 nor the M479 mutation that defines Haplogroup R2 are categorized as belonging to group R-M207*. R-M207* has been found in 10.3% (10/97) of a sample of Burusho and 6.8% (3/44) of a sample of Kalash from northern Pakistan (Firasat 2007). A 2002 study concerning the Y-Chromosomal DNA variation in Pakistan by Qamar et al. found the percentages of P(xR1)-92R7 at: 8.2% among the Brahui, 9.1% among the Kalash, 10.8% among the Pathan, 12.3% among the Sindhi, 15.4% among the Balti, 18.6% among the Baluch, 25% among the Kashmiri, 26.7% among the Parsi, 27.7% among the Burusho, and 60.9% among the Hazara.[3]

Americas[edit]

See also: Indigenous Amerindian genetics and Y-DNA haplogroups in Indigenous peoples of the Americas

The presence of haplogroup R1 among Indigenous Americans groups is a matter of controversy. It is now the most common haplogroup after the various Q-M242, especially in North America in Ojibwe people at 79%, Chipewyan 62%, Seminole 50%, Cherokee 47%, Dogrib 40% and Papago 38%.

The decreasing gradient of haplogroup R from Northeastern to Southwestern North America is evidence that this results from European admixture.[4]

Conversely, other authorities point to the greater similarity between haplogroup R1 subclades found in North America and those found in Siberia (e.g. Lell [5] and Raghavan [6]), suggesting prehistoric immigration from Asia and/or Beringia.

Africa[edit]

One isolated clade (or clades) of Y-chromosomes that appear to belong to the R-P25 sublineage is found at high frequency among the native populations of northern Cameroon, such as the Kirdi, in west-central Africa, which is believed to reflect a prehistoric back-migration of an ancient proto-Eurasian population into Africa.[citation needed]

Subclade distribution[edit]

Paragroup R-M173[edit]

Haplogroup R1 contains the majority of representatives of haplogroup R in the form of its subclades, R1a and R1b Rosser 2000, Semino 2000, and Genographic 2011).

R1a[edit]

Main article: Haplogroup R1a

The highest levels of haplogroup R1a (>50%) are found amongst West Bengal Brahmins (72%), and Uttar Pradesh Brahmins, (67%), the Ishkashimi (68%), the Tajik population of Panjikent (64%), the Kyrgyz population of Central Kyrgyzstan (63.5%), Sorbs (63.39%), Bihar Brahmins (60.53%), Shors (58.8%),[7] Poles (56.4%), Teleuts (55.3%),[7] South Altaians (58.1%),[8] Ukrainians (50%) and Russians (50%) (Semino 2000, Wells 2001, Behar 2003, and Sharma 2007).

R1a has been variously associated with:

The modern studies for R-M173 suggest that it could have originated in South Asia. It could have found its way initially from Western India (Gujarat) through Pakistan and Kashmir, then via Central Asia and Russia, before finally coming to Europe"..."as part of an archaeologically dated Paleolithic movement from east to west 30,000 years ago (Underhill 2009).

R1b[edit]

Main article: Haplogroup R1b

Haplogroup R1b probably originated in Eurasia prior to or during the last glaciation. It is the most common haplogroup in Western Europe and Bashkortostan.(Lobov 2009) It may have survived the LGM,[9] in refugia near the southern Ural Mountains and Aegean Sea.(Lobov 2009).

It is also present at lower frequencies throughout Eastern Europe, with higher diversity than in western Europe, suggesting an ancient migration of haplogroup R1b from the east.[10] Haplogroup R1b is also found at various frequencies in many different populations near the Ural Mountains and Central Asia, its likely region of origin.

There may be a correlation between this haplogroup and the spread of Centum branch Indo-European languages in southern and western Europe. For instance, the modern incidence of R1b reaches between 60% and 90% of the male population in most parts of Spain, Portugal, France, Britain and Ireland. [11] It is also found in North Africa, where its frequency surpasses 10% in some parts of Algeria.

The R1b clade appears to have a much higher degree of internal diversity than R1a, which suggests that the M343 mutation that derives R1b from R-M173* may have occurred considerably earlier than the mutation that defines R1a.[citation needed]

Although it is rare in South Asia, some populations show relatively high percentages for R1b. These include Lambadi showing 37% (Kivisild 2005), Hazara 32% (Sengupta 2005), and Agharia (in East India) at 30% (Sengupta 2005). Besides these, R1b has appeared in Balochi (8%), Chenchu (2%), Makrani (5%), Newars (10.6%), Pallan (3.5%), Indian Punjabis (7.6%) and West Bengalis (6.5%) (Kivisild 2003, Sengupta 2005, and Gayden 2007).

R-M343 (previously called Hg1[citation needed] and Eu18[citation needed]) is the most frequent Y-chromosome haplogroup in Europe. It is an offshoot of R-M173, characterised by the M343 marker.[12] An overwhelming majority of members of R-M343 are classified as R-P25 (defined by the P25 marker), the remainder as R-M343*. Its frequency is highest in Western Europe (and due to modern European emigration, in parts of the Americas). The majority of R-M343-carriers of European descent belong to the R-M269 descendant line.

Phylogenetic trees[edit]

There are several confirmed and proposed phylogenetic trees available for haplogroup R. The scientifically accepted one is the Y-Chromosome Consortium (YCC) one published in Karafet 2008 and subsequently updated. A draft tree that shows emerging science is provided by Thomas Krahn at the Genomic Research Center in Houston, Texas. The International Society of Genetic Genealogy (ISOGG) also provides an amateur tree.

The Genomic Research Center draft tree[edit]

This is Thomas Krahn at the Genomic Research Center's draft tree Proposed Tree for haplogroup R. The first three levels of subclades are shown. Additional detail is provided on the linked branch article pages (Krahn 2012).

  • R (R-M207) M207, P224, P227, P229, P232, P280, P285, L248.2, L1031

See also[edit]

Genetics[edit]

Y-DNA R-M207 subclades[edit]

Y-DNA backbone tree[edit]

Evolutionary tree of human Y-chromosome DNA (Y-DNA) haplogroups [n 1] [n 2]
"Y-chromosomal Adam"
A00 A0-T [n 3]
A0 A1[n 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 [n 5]  K2
L T NO [n 6] K2b [n 7]   K2c K2d K2e [n 8]
N O K2b1 [n 9]    P
M S 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 K2e was also previously known as "K2a").
  7. ^ Haplogroup K2b (M1221/P331/PF5911) was previously known as Haplogroup MPS.
  8. ^ Haplogroup K2e (K-M147) was previously known as K2a and "Haplogroup X".
  9. ^ Haplogroup K2b1 (P397/P399) has a complex internal structure, which is broader than the former Haplogroup MS.

References[edit]

Footnotes[edit]

  1. ^ Y-DNA Haplogroup R and its Subclades - 2008 from ISOGG
  2. ^ Results for R1b1 members
  3. ^ Raheel Qamar, Qasim Ayub, Aisha Mohyuddin, Agnar Helgason, Kehkashan Mazhar, Atika Mansoor, Tatiana Zerjal, Chris Tyler-Smith, and S. Qasim Mehdi (2002). "Y-Chromosomal DNA Variation in Pakistan." American Journal of Human Genetics 70 (5): 1107–1124. doi:10.1086/339929. PMCID PMC447589
  4. ^ Malhi (2008). "Distribution of Y Chromosomes Among Native North Americans: A Study of Athapaskan Population History"
  5. ^ Lell, Jeffrey T.; Sukernik, Rem I.; Starikovskaya, Yelena B.; Su, Bing; Jin, Li; Schurr, Theodore G.; Underhill, Peter A.; Wallace, Douglas C. (2002). "The Dual Origin and Siberian Affinities of Native American". The American Journal of Human Genetics 70 (1): 192–206.
  6. ^ Raghavan, Maanasa; Pontus Skoglund, Kelly E. Graf, Mait Metspalu, Anders Albrechtsen, Ida Moltke, Simon Rasmussen, Thomas W. Stafford Jr, Ludovic Orlando, Ene Metspalu, Monika Karmin, Kristiina Tambets, Siiri Rootsi, Reedik Mägi, Paula F. Campos, Elena Balanovska, Oleg Balanovsky, Elza Khusnutdinova, Sergey Litvinov, Ludmila P. Osipova, Sardana A. Fedorova, Mikhail I. Voevoda, Michael DeGiorgio, Thomas Sicheritz-Ponten, Søren Brunak et al. (2 January 2014). "Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans". Nature 505 (7481): 87–91
  7. ^ a b Miroslava Derenko et al 2005, Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions
  8. ^ Khar'kov, V.N. (2007), "Gene pool differences between Northern and Southern Altaians inferred from the data on Y-chromosomal haplogroups", Genetika 43 (5): 675–87, PMID 17633562 
  9. ^ Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample
  10. ^ Variations of R1b Ydna in Europe: Distribution and Origins
  11. ^ Reuters (August 2, 2011), Most Euro men are related to King Tut: DNA testing reveals strange genetic link among Europeans; Oddly, most Egyptians not in the family, Metro NY 
  12. ^ Note that in earlier literature the M269 marker, rather than M343, was used to define the "R1b" haplogroup. Then, for a time (from 2003 to 2005) what is now R1b1c was designated R1b3.

Works cited[edit]

In art[edit]

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]

  1. ^ About R1a and R1b from Ural epic story. Artem Lukichev (c)
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