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Published online 23 September 2009 | Nature | doi:10.1038/news.2009.935

News

Indian ancestry revealed

The mixing of two distinct lineages led to most modern-day Indians.
Elie Dolgin

The population of India was founded on two ancient groups

that are as genetically distinct from each other as they are
from other Asians, according to the largest DNA survey of
Indian heritage to date. Nowadays, however, most Indians
are a genetic hotchpotch of both ancestries, despite the
populous nation's highly stratified social structure.
"All Indians are pretty similar," says Chris Tyler-Smith, a
genome researcher at the Wellcome Trust Sanger Institute
near Cambridge, UK, who was not involved in the study.
"The population subdivision has not had a dominating effect."

Most Indians are a mix of two ancient

lineages.
Getty

India makes up around one-sixth of the world's population,

yet the South Asian country has been sorely under-represented in genome-wide studies of human
genetic variation. The International HapMap Project, for example, includes populations with African,
East Asian and European ancestry but no Indians. The closest the Human Genome Diversity Cell
Line Panel of 51 global populations comes is Pakistan, India's western neighbour. The Indian Genome
Variation database was launched in 2003 to fill the gap, but so far the project has studied only 420
DNA-letter differences, called single nucleotide polymorphisms (SNPs), in 75 genes1.
Caste divisions
Now, a team led by David Reich of the Broad Institute in Cambridge, Massachusetts, and Lalji Singh
of the Centre for Cellular and Molecular Biology in Hyderabad, India, has probed more than 560,000
SNPs across the genomes of 132 Indian individuals from 25 diverse ethnic and tribal groups dotted all
over India2 .
T here are
populations that
have lived in the
same town and
same village for
thousands of
years without
exchanging
genes.

The researchers showed that most Indian populations are genetic

admixtures of two ancient, genetically divergent groups, which each
contributed around 40-60% of the DNA to most present-day populations.
One ancestral lineage which is genetically similar to Middle Eastern,
Central Asian and European populations was higher in upper- caste
individuals and speakers of Indo-European languages such as Hindi, the
researchers found. The other lineage was not close to any group outside the
subcontinent, and was most common in people indigenous to the Andaman
Islands, a remote archipelago in the Bay of Bengal.

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The researchers also found that Indian populations were much more highly
subdivided than European populations. But whereas European ancestry is mostly carved up by
geography, Indian segregation was driven largely by caste. "There are populations that have lived in
the same town and same village for thousands of years without exchanging genes," says Reich.
Number puzzle
Indian populations, although currently huge in number, were also founded by relatively small bands
of individuals, the study suggests. Overall, the picture that emerges is of ancient genetic mixture, says
Reich, followed by fragmentation into small, isolated ethnic groups, which were then kept distinct for
thousands of years because of limited intermarriage a practice also known as endogamy.
This genetic evidence refutes the claim that the Indian caste structure was a modern invention of
British colonialism, the authors say. "This idea that caste is thousands of years old is a big deal," says
Nicole Boivin, an archaeologist who studies South Asian prehistory at the University of Oxford, UK.
"To say that endogamy goes back so far, and that genetics shows it, is going to be controversial to
many anthropologists." Boivin fears that the study might be 'spun' by politicians seeking to maintain
caste structures in India, and she calls on social scientists and geneticists to collaborate on such
"highly politicized" issues.
Beyond the study's social repercussions, the low rates of genetic mingling "could have important
implications for biomedical studies of Indian populations", notes Sarah Tishkoff, a human geneticist at
the University of Pennsylvania in Philadelphia who was not involved in the research. The partitioned
population structure will need to be taken into account in any efforts to map disease genes, she says.
The small numbers of founders of each Indian group also have clinical consequences, says Reich.
"There will be a lot of recessive diseases in India that will be different in each population and that can
be searched for and mapped genetically," he says. "That will be important for health in India."
The evidence that most Indians are genetically alike, even though anthropological data show that
Indian groups tend to marry within their own group, is "very puzzling", says Aravinda Chakravarti, a
human molecular geneticist at the Johns Hopkins University School of Medicine in Baltimore,
Maryland, who wrote an accompanying News & Views article3 . For example, Chakravarti notes that
the study can't establish a rough date for when the ancient mixing between the two ancestral
populations took place. "There are very curious features of the data that are hard to explain," he
says, adding: "This is not the end of the story."
References
1. Indian Genome Variation Consortium J. Genet. 87, 3-20 (2008).
2. Reich, D. et al. Nature 461, 489-494 (2009).
3. Chakravarti, A. Nature 461, 487-488 (2009).

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#59858
Indian ancestry reveled by Reich et al., is indeed a well attempted, throughly analysed publication
based on sample of individuals from different regions. This is interesting that the results convey the possibility
of at least two recognisable putative ancestral population and these two have been named as ANI and ASI. In
my opinion, in case the ANI indicates ancestry more towards to northern Caucasian migration, then possibly
better to name them Ancient Later Migrants ALM, instead of ANI. Similary the term ASI indicating for the
Ancient Southern Indian population is basically refers to extension of Santal and to an extent Onge population.
Naming them as Ancient Early Settlers (AES)seems more appropriate.
Report this comment

Posted by: Vasulu T S

2013-08-28 07:34:17 AM

A good attempt but based more on conjecture since racial genetics is still in infancy, thus results can be #59966
subtly fine-tuned to one's agenda. I guess we Indians must rely more on our Aryan texts such as the Rigveda.
Moreover, we do not hear of any Caucasian Race in any of our epics.
Dr. Upinder Fotadar
Report this comment

Posted by: Upinder Fotadar

2013-09-11 01:39:54 PM

Commenting is now closed.

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