The Eurasian Heartland: A continental perspective on Y-chromosome diversity

Wells, R. Spencer; Yuldasheva, Nadira; Ruzibakiev, Ruslan; Underhill, Peter A.; Evseeva, Irina; Blue-Smith, Jason; Jin, Li; Su, Bing; Pitchappan, Ramasamy; Shanmugalakshmi, S.; Balakrishnan, K; Read, Morley; Pearson, Nathaniel M.; Zerjal, Tatiana; Webster, Matthew T.; Zholoshvili, I; Jamarjashvili, E; Gambarov, S; Nikbin, Behrouz; Dostiev, A; Aknazarov, O; Zalloua, Pierre; Tsoy, I; Kitaev, Mikhail; Миррахимов, М М; Chariev, A; Bodmer, W F

doi:10.1073/pnas.171305098

Cited by 425 publications

(438 citation statements)

References 24 publications

(39 reference statements)

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“…Further, M17-R1a (presently designated as R1a1) was suggested as a potential marker with decreasing frequencies from Central Asia towards South India. 23 On similar lines, it was suggested that a package of Y-HGs (J2, R1a, R2 and L) was associated with the migration of Indo-European people from Central Asia. 7 Although our study observed a high frequency of Y-HGs, R1a1, J*/J2, R2 and L, it was not exclusively restricted to any region or population (Table 1).…”

Section: Resultsmentioning

confidence: 97%

“…To substantiate our data and compare our results, we further compiled the data available in the literature for Indian populations (400 Brahmin Y-chromosomes as well as 1788 scheduled caste/tribal Y-chromosomes). 7,9,12,21,23,24,29 as well as for other population groups, mainly from Central Asia, Eurasia and Southeast Asia. 9,23,[30][31][32][33][34] Sample collection and DNA isolation About 2 ml of venous blood was collected from each individual, with their informed written consent and the approval of Jawaharlal Nehru University ethical committee.…”

Section: Samples Analyzedmentioning

confidence: 99%

“…7,11 The second model, based on molecular genetic data, mainly the Y-chromosomal M17 marker (R1a1 haplogroup), suggests the migration of IE people from Central Asia to India. 23 Another model suggests that later on 'not alone but a package' of Y-haplogroups migrated from Central Asia, introducing the caste system to India. 7 Yet another model suggests the late Pleistocene heritage of tribal and caste populations, with limited recent gene flow between them 24 and the largely South Asian origin of Indian caste communities, indicating no major genetic influx either with the development of agriculture or with the spread of the IndoAryan (IE) language family.…”

Section: Introductionmentioning

confidence: 99%

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The Indian origin of paternal haplogroup R1a1* substantiates the autochthonous origin of Brahmins and the caste system

et al. 2009

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Many major rival models of the origin of the Hindu caste system co-exist despite extensive studies, each with associated genetic evidences. One of the major factors that has still kept the origin of the Indian caste system obscure is the unresolved question of the origin of Y-haplogroup R1a1*, at times associated with a male-mediated major genetic influx from Central Asia or Eurasia, which has contributed to the higher castes in India. Y-haplogroup R1a1* has a widespread distribution and high frequency across Eurasia, Central Asia and the Indian subcontinent, with scanty reports of its ancestral (R*, R1* and R1a*) and derived lineages (R1a1a, R1a1b and R1a1c). To resolve these issues, we screened 621 Y-chromosomes (of Brahmins occupying the upper-most caste position and schedule castes/tribals occupying the lower-most positions) with 55 Y-chromosomal binary markers and seven Y-microsatellite markers and compiled an extensive dataset of 2809 Y-chromosomes (681 Brahmins, and 2128 tribals and schedule castes) for conclusions. A peculiar observation of the highest frequency (up to 72.22%) of Yhaplogroup R1a1* in Brahmins hinted at its presence as a founder lineage for this caste group. Further, observation of R1a1* in different tribal population groups, existence of Y-haplogroup R1a* in ancestors and extended phylogenetic analyses of the pooled dataset of 530 Indians, 224 Pakistanis and 276 Central Asians and Eurasians bearing the R1a1* haplogroup supported the autochthonous origin of R1a1 lineage in India and a tribal link to Indian Brahmins. However, it is important to discover novel Y-chromosomal binary marker(s) for a higher resolution of R1a1* and confirm the present conclusions.

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Section: Resultsmentioning

confidence: 97%

Section: Samples Analyzedmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The Indian origin of paternal haplogroup R1a1* substantiates the autochthonous origin of Brahmins and the caste system

et al. 2009

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“…[5][6][7]29,30 This haplogroup is thought to have originated in Central Asia approximately 40 000 years BP and then migrated westward into Europe, achieving its highest frequencies in the western region of this continent. 39,40 Although Balaresque et al 41 proposed the hypothesis of a European spread of haplogroup R1b1b2-M269 during the Neolithic, the distribution of the M269 sub-haplogroups and their Y-STR diversities proved to be compatible with a pre-Neolithic diffusion of M269 in Europe. 42,43 The reported high frequencies of this haplogroup in Central-West Africa led to the proposal of a 'back to Africa' migration as the justification for the otherwise unexpected presence of this haplogroup in the region.…”

Section: Characterisation Of the Male Lineages Of Equatorial Guineamentioning

confidence: 99%

The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88

et al. 2012

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Human Y chromosomes belonging to the haplogroup R1b1-P25, although very common in Europe, are usually rare in Africa. However, recently published studies have reported high frequencies of this haplogroup in the central-western region of the African continent and proposed that this represents a 'back-to-Africa' migration during prehistoric times. To obtain a deeper insight into the history of these lineages, we characterised the paternal genetic background of a population in Equatorial Guinea, a Central-West African country located near the region in which the highest frequencies of the R1b1 haplogroup in Africa have been found to date. In our sample, the large majority (78.6%) of the sequences belong to subclades in haplogroup E, which are the most frequent in Bantu groups. However, the frequency of the R1b1 haplogroup in our sample (17.0%) was higher than that previously observed for the majority of the African continent. Of these R1b1 samples, nine are defined by the V88 marker, which was recently discovered in Africa. As high microsatellite variance was found inside this haplogroup in Central-West Africa and a decrease in this variance was observed towards Northeast Africa, our findings do not support the previously hypothesised movement of Chadic-speaking people from the North across the Sahara as the explanation for these R1b1 lineages in Central-West Africa. The present findings are also compatible with an origin of the V88-derived allele in the Central-West Africa, and its presence in North Africa may be better explained as the result of a migration from the south during the mid-Holocene.

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“…[6][7][8][9][10][11][12][13][14][15] These studies were mostly based on sequences of the first hypervariable segment of the noncoding mtDNA control region (HV1) and Y chromosome binary marker variation in various groups from this region. mtDNA studies reveal a high level of diversity, exceeding that within all of Europe and only slightly lower than West Asian mtDNA diversity, which might indicate an old age of human populations from this region.…”

Section: Introductionmentioning

confidence: 99%

High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences

Schönberg

Theunert

et al. 2011

Eur J Hum Genet

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To investigate the demographic history of human populations from the Caucasus and surrounding regions, we used highthroughput sequencing to generate 147 complete mtDNA genome sequences from random samples of individuals from three groups from the Caucasus (Armenians, Azeri and Georgians), and one group each from Iran and Turkey. Overall diversity is very high, with 144 different sequences that fall into 97 different haplogroups found among the 147 individuals. Bayesian skyline plots (BSPs) of population size change through time show a population expansion around 40-50 kya, followed by a constant population size, and then another expansion around 15-18 kya for the groups from the Caucasus and Iran. The BSP for Turkey differs the most from the others, with an increase from 35 to 50 kya followed by a prolonged period of constant population size, and no indication of a second period of growth. An approximate Bayesian computation approach was used to estimate divergence times between each pair of populations; the oldest divergence times were between Turkey and the other four groups from the South Caucasus and Iran (B400-600 generations), while the divergence time of the three Caucasus groups from each other was comparable to their divergence time from Iran (average of B360 generations). These results illustrate the value of random sampling of complete mtDNA genome sequences that can be obtained with high-throughput sequencing platforms.

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The Eurasian Heartland: A continental perspective on Y-chromosome diversity

Cited by 425 publications

References 24 publications

The Indian origin of paternal haplogroup R1a1* substantiates the autochthonous origin of Brahmins and the caste system

The Indian origin of paternal haplogroup R1a1* substantiates the autochthonous origin of Brahmins and the caste system

The genetic landscape of Equatorial Guinea and the origin and migration routes of the Y chromosome haplogroup R-V88

High-throughput sequencing of complete human mtDNA genomes from the Caucasus and West Asia: high diversity and demographic inferences

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