Wednesday 8 May 2013

Genetic Evidence on the Origins of Indian Caste Populations

Michael Bamshad, Toomas Kivisild, W. Scott Watkins, Mary E. Dixon, Chris E. Ricker, Baskara B. Rao, J. Mastan Naidu, B.V. Ravi Prasad, P. Govinda Reddy, Arani Rasanayagam, Surinder S. Papiha, Richard Villems, Alan J. Redd, Michael F. Hammer, Son V. Nguyen, Marion L. Carroll, Mark A. Batzer, and Lynn B. Jorde
Genetic Evidence on the Origins of Indian Caste Populations
Genome Research June 2001 Volume 11, Issue 6 pp. 994-1004
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10.1101/gr.GR-1733RR
Access the most recent version at doi:
2001 11: 994-1004; originally published online May 8, 2001;
Genome Res.
 
Jorde
Villems, Alan J. Redd, Michael F. Hammer, Son V. Nguyen, Marion L. Carroll, Mark A. Batzer and Lynn B.
Mastan Naidu, B.V. Ravi Prasad, P. Govinda Reddy, Arani Rasanayagam, Surinder S. Papiha, Richard
Michael Bamshad, Toomas Kivisild, W. Scott Watkins, Mary E. Dixon, Chris E. Ricker, Baskara B. Rao, J.
 
Genetic Evidence on the Origins of Indian Caste Populations
data
Supplementary
http://www.genome.org/cgi/content/full/GR-1733RR/DC1
"Supplemental Research Data"
References
http://www.genome.org/cgi/content/full/11/6/994#otherarticles
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Genetic Evidence on the Origins
of Indian Caste Populations
Michael Bamshad,
1,10,12
Toomas Kivisild,
2
W. Scott Watkins,
3
Mary E. Dixon,
3
Chris E. Ricker,
3
Baskara B. Rao,
4
J. Mastan Naidu,
4
B.V. Ravi Prasad,
4,5
P. Govinda Reddy,
6
Arani Rasanayagam,
7
Surinder S. Papiha,
8
Richard Villems,
2
Alan J. Redd,
7
Michael F. Hammer,
7
Son V. Nguyen,
9
Marion L. Carroll,
9
Mark A. Batzer,
9,11
and Lynn B. Jorde
3
1
Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA;
2
Institute of Molecular and Cell Biology,
Tartu University and Estonian Biocentre, Tartu 51010, Estonia;
3
Department of Human Genetics, University of Utah,
Salt Lake City, Utah 84112, USA;
4
Department of Anthropology, Andhra University, Visakhapatnam, Andhra Pradesh, India;
5
Anthropological Survey of India, Calcutta, India;
6
Department of Anthropology, University of Madras, Madras, Tamil Nadu,
India;
7
Laboratory of Molecular Systematics and Evolution, University of Arizona, Tucson, Arizona 85721, USA;
8
Department of Human Genetics, University of Newcastle-upon-Tyne, UK;
9
Department of Pathology, Biometry
and Genetics, Biochemistry and Molecular Biology, Stanley S. Scott Cancer Center, Louisiana State University Health
Science Center, New Orleans, Louisiana 70112, USA
The origins and affinities of the
1 billion people living on the subcontinent of India have long been contested.
This is owing, in part, to the many different waves of immigrants that have influenced the genetic structure of
India. In the most recent of these waves, Indo-European-speaking people from West Eurasia entered India from
the Northwest and diffused throughout the subcontinent. They purportedly admixed with or displaced
indigenous Dravidic-speaking populations. Subsequently they may have established the Hindu caste system and
placed themselves primarily in castes of higher rank. To explore the impact of West Eurasians on contemporary
Indian caste populations, we compared mtDNA (400 bp of hypervariable region 1 and 14 restriction site
polymorphisms) and Y-chromosome (20 biallelic polymorphisms and 5 short tandem repeats) variation in
265
males from eight castes of different rank to
750 Africans, Asians, Europeans, and other Indians. For maternally
inherited mtDNA, each caste is most similar to Asians. However, 20%–30% of Indian mtDNA haplotypes
belong to West Eurasian haplogroups, and the frequency of these haplotypes is proportional to caste rank, the
highest frequency of West Eurasian haplotypes being found in the upper castes. In contrast, for paternally
inherited Y-chromosome variation each caste is more similar to Europeans than to Asians. Moreover, the
affinity to Europeans is proportionate to caste rank, the upper castes being most similar to Europeans,
particularly East Europeans. These findings are consistent with greater West Eurasian male admixture with castes
of higher rank. Nevertheless, the mitochondrial genome and the Y chromosome each represents only a single
haploid locus and is more susceptible to large stochastic variation, bottlenecks, and selective sweeps. Thus, to
increase the power of our analysis, we assayed 40 independent, biparentally inherited autosomal loci (1 LINE-1
and 39
Alu
elements) in all of the caste and continental populations (
600 individuals). Analysis of these data
demonstrated that the upper castes have a higher affinity to Europeans than to Asians, and the upper castes are
significantly more similar to Europeans than are the lower castes. Collectively, all five datasets show a trend
toward upper castes being more similar to Europeans, whereas lower castes are more similar to Asians. We
conclude that Indian castes are most likely to be of proto-Asian origin with West Eurasian admixture resulting
in rank-related and sex-specific differences in the genetic affinities of castes to Asians and Europeans.
Shared Indo-European languages (i.e., Hindi and most
Europeanlanguages)suggestedtolinguistsofthenine-
teenth and twentieth centuries that contemporary
Hindu Indians are descendants of primarily West Eur-
asians who migrated from Europe, the Near East, Ana-
tolia, and the Caucasus 3000–8000 years ago (Poliakov
1974; Renfrew 1989a,b). These nomadic migrants may
Present addresses:
10
Eccles Institute of Human Genetics, 15
North 2030 East, Room 2100, Universityof Utah, Salt Lake City,
UT 84112-5330, USA.
11
Department of Biological Sciences, Bio-
logical Computation and Visualization Center, Louisiana State
University, 508 Life Sciences Building, Baton Rouge, LA 70803,
USA.
12
Corresponding author.
E-MAIL mike@genetics.utah.edu; FAX (801) 585-9148.
Article published on-line before print:
Genome Res.
, 10.1101/gr.173301.
Article and publication are at www.genome.org/cgi/doi/10.1101/
gr.173301.
Letter
994 Genome Research
11:994–1004 ©2001 by Cold Spring Harbor Laboratory Press ISSN 1088-9051/01 $5.00; www.genome.org
www.genome.org
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www.genome.org
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