インドの遺伝的多様性に関する最も網羅的な解析を完了(Scientists complete the most thorough analysis yet of India’s genetic diversity)

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2025-06-26 カリフォルニア大学バークレー校(UCB)

UCバークレー主導の国際チームは、インド全土から2,762人の全ゲノムを解析し、南アジアで最も包括的な遺伝的多様性の分析を実施。現代インド人のゲノムにはネアンデルタール人DNAが1〜2%含まれ、地球上のネアンデルタールゲノムの約半分が再構築可能と判明。また、古代の農耕民・遊牧民の混血やエンドガミーの影響、疾患リスクに関わる遺伝子変異も多数発見された。精密医療への応用が期待される。

インドの遺伝的多様性に関する最も網羅的な解析を完了(Scientists complete the most thorough analysis yet of India’s genetic diversity)The new analysis traces Indian ancestry back to a migration out of Africa around 50,000 years ago, after which humans interbred with Neanderthals and Denisovans and then spread throughout Eurasia. Some genes acquired from those now-extinct ancestors affect immune response. About 10,000 years ago, there was an influx of farmers from Iran and nomadic herders from the Central Asian steppe to India, who mixed with the local hunter-gatherer. Then, 5,000 years ago, endogamy led to bottlenecks in many Indian communities. Together, this complex evolutionary history has shaped the genetic variation and health and disease in India.

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インド5万年の進化の歴史: 健康と疾病の変動への影響 50,000 years of evolutionary history of India: Impact on health and disease variation

Elise Kerdoncuff ∙ Laurits Skov ∙ Nick Patterson ∙ … ∙ Sharon L.R. Kardia ∙ Jinkook Lee ∙ Priya Moorjani
Cell  Accepted: April 21, 2025
DOI:https://doi.org/10.1016/j.cell.2025.04.027

Highlights

•Insights into Indian genetic variation from ∼2,700 whole-genome sequences

•Identification of source of Iranian farmer-related ancestry in India

•Characterization of Neanderthal and Denisovan ancestry in India

•Discovery of population-specific and disease susceptibility variants in India

Summary

India has been underrepresented in genomic surveys. We generated whole-genome sequences from 2,762 individuals in India, capturing the genetic diversity across most geographic regions, linguistic groups, and historically underrepresented communities. We find most Indians harbor ancestry primarily from three ancestral groups: South Asian hunter-gatherers, Eurasian Steppe pastoralists, and Neolithic farmers related to Iranian and Central Asian cultures. The extensive homozygosity and identity-by-descent sharing among individuals reflects strong founder events due to a recent shift toward endogamy. We uncover that most of the genetic variation in Indians stems from a single major migration out of Africa that occurred around 50,000 years ago, followed by 1%–2% gene flow from Neanderthals and Denisovans. Notably, Indians exhibit the largest variation and possess the highest amount of population-specific Neanderthal ancestry segments among worldwide groups. Finally, we discuss how this complex evolutionary history has shaped the functional and disease variation on the subcontinent.

医療・健康
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