Science and Life
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  Gene study reveals Indian origins
Nearly all Indians can claim descent from two ancestral groups, says a new study, adding that millennia of inter-marriage may have left the country's population more at risk to some inherited diseases.

US and Indian scientists took blood samples from 132 individuals from 25 diverse groups in India, representing 13 states, all six language families as well as tribal groups and castes.

By examining the volunteers' DNA, two ancestral populations emerge, which dominate the Indian genome today, the researchers say.

"Different Indian groups have inherited 40% to 80% of their ancestry from a population that we call the Ancestral North Indians, who are related to western Eurasians, and the rest from the Ancestral South Indians, who are not related to any group outside India," says Harvard Medical School geneticist David Reich.

The north-south finding is in line with a scenario that suggests a small number of venturers, the so-called Austro-Asiatic people, first moved into the sub-continent about 60,000 years ago.
Waves of arrival

Around 5000 years ago, the arrival of a Dravidian-speaking tribe caused the community to disperse. Its members went on to form enclaves of small, tightly-knit groups.

The Dravidians themselves were then driven to the south when Indo-European tribes arrived around 500 years later.

These early events helped form a patchwork of groups that is visible today, according to this theory.

Adding spice to the DNA mix have been successive waves of conquerors, from the Persians, the Macedonians, the Portuguese, the Mughals and the British, along with trade and regional contacts.

For example, the Siddi people in south-western India have a signature of African genes, consistent with their origin, which involved the Arab slave trade. The Nyshi and Ao Naga groups in the far northeast, cluster with Chinese genotypes, which correlates with their use of Tibeto-Burman languages.

The investigators, whose work is published by the journal Nature, point to a range of intriguing discoveries.
'Founder events'

One is the strong genetic similarities within groups that can be traced to a 'founder event' - the establishment of a community by a tiny number of people who migrated after the ancestral population was dispersed.

Founder events mean a community starts with a relatively small gene pool whose confines may then be maintained or reinforced by geographical isolation or by endogamy, the term for marriage within a tribe or caste.

Six Indo-European and Dravidian-speaking groups have evidence of founder events that happened 30 generations ago, while the Vysya group had a founder event that occurred at least 100 generations in the past.

The paper says endogamy's role in shaping India's DNA has deeper roots than many might think.

"Some historians have argued that 'caste' in modern India is an invention of colonialism in the sense that it became more rigid under colonial rule," it says.

"However, our results indicate that many current distinctions among groups are ancient, and that strong endogamy must have shaped marriage patterns in India for thousands of years."
Genetic flaws

The downside of founder events and enduring endogamy is that genetic flaws that boost the chance of inherited disease get transmitted through the generations, rather than erased by mixing genes with other communities.

Screening and mapping India's diversity could have benefits in health, enabling doctors to help people at risk from their genetic inheritance, says the study.

It gives the example of a tiny deletion on a gene called MYBPC3, which increases the risk of heart failure by about sevenfold. Around 4% of the Indian population have this genetic variant, yet it is nearly absent elsewhere.

Little is known about the genomics of India, which despite having the world's second-largest population, is under-represented in surveys of the human genome.
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