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Genetics

Genetic analysis reveals historic demographic change that shaped the population of India

India became a region in which mixture between highly different populations was common to one in which mixture even between closely related groups became rare


India experienced a demographic transformation several thousand years ago, from a region in which mixture between highly different populations was common to one in which mixture even between closely related groups became rare.The finding, which was just published online in the American Journal of Human Genetics (AJHG), published by Elsevier's Cell Press, provides new information about the peopling of India and improves our understanding of the changes that led to the present-day structure of Indian populations."Prior to the population mixture and as recently as a few thousand years ago, the population structure of India was profoundly different from what it is today," says co–senior author Dr. David Reich, Professor in the Department of Genetics of Harvard Medical School in Boston.[caption id="attachment_26480" align="alignright" width="480"]India experienced a demographic transformation several thousand years ago, from a region in which mixture between highly different populations was common to one in which mixture even between closely related groups became rare. (Credit: AJHG, Moorjani et al) India experienced a demographic transformation several thousand years ago, from a region in which mixture between highly different populations was common to one in which mixture even between closely related groups became rare. (Credit: AJHG, Moorjani et al)[/caption]Genetic evidence indicates that most people in India descend from a mixture of two ancestral populations:

  • Ancestral North Indians (ANI) related to Central Asians, Middle Easterners, Caucasians, and Europeans
  • Ancestral South Indians (ASI) not closely related to groups outside the subcontinent
Determining the date of mixture between these groups provides insights into Indian history.For this study, an international collaboration between Dr. Reich's team and investigators at the CSIR Centre for Cellular and Molecular Biology in Hyderabad, India, performed genetic analyses of 73 groups from the Indian subcontinent. Applying novel methods, they inferred that major ANI-ASI mixture occurred about 1,900-4,200 years ago.


This mixture left its mark on nearly every group in India, according to co–first author Priya Moorjani, a graduate student and Research Fellow in Genetics at Harvard Medical School. "The most remarkable aspect of the ANI-ASI mixture is how pervasive it was: it affected not just traditionally upper-caste groups but also traditionally lower-caste and isolated tribal groups, all of whom are united in their history of mixture in the past few thousand years," she said."

The fact that every population in India evolved from randomly mixed populations suggests that social classifications like the caste system are not likely to have existed in the same way before the mixture," adds co-senior author Dr. Lalji Singh, Vice-Chancellor of Banaras Hindu University in Varanasi, India, and formerly of the CSIR Centre for Cellular and Molecular Biology. "Thus, the present-day structure of the caste system came into being only relatively recently in Indian history."


The shift from a region where major mixture between groups was common to a region in which mixture became rare occurred because people took on the custom (called endogamy) of marrying only within the limits of their local community. "An important consequence of these results is that the high incidence of genetic and population-specific diseases characteristic of present-day India is likely to have increased only in the last few thousand years when groups in India started following strict endogamous marriage," says co-first author Dr. Kumarasamy Thangaraj, of the CSIR Centre for Cellular and Molecular Biology.


Read the abstract

"Genetic Evidence for Recent Population Mixture in India," Priya Moorjani et al, American Journal of Human Genetics (AJHG)


[caption id="attachment_18867" align="alignleft" width="150"]Mary Beth O'Leary Mary Beth O'Leary[/caption]

Reporting for Elsevier Connect

Mary Beth O’Leary is Press Officer and Associate Media Relations Manager for Cell Press (@CellPressNews), based in Cambridge, Massachusetts. She began her career at Cell Press as an Senior Editorial Assistant for the journal Cell before transitioning into a role as Marketing/Publicity Coordinator. In December, she moved into her position as Press Officer for Cell Press’s 29 journals. A graduate of the College of the Holy Cross in Worcester, Massachusetts, she studied literature and art history.


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