50,000 years of evolutionary history of India: Impact on health and disease variation
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 fr...
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2025
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| Online Access: | http://dx.doi.org/10.1016/j.cell.2025.04.027 https://www.sciencedirect.com/science/article/pii/S0092867425004623 http://hdl.handle.net/10576/66664 |
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| _version_ | 1857415083692392448 |
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| author | Skov, Laurits |
| author2 | Patterson, Nick Banerjee, Joyita Khobragade, Pranali Chakrabarti, Sankha S. Chakrawarty, Avinash Chatterjee, Prasun Dhar, Minakshi Gupta, Monica John, John P. Koul, Parvaiz A. Lehl, Sarabmeet S. Mohanty, Rashmi R. Padmaja, Mekala Perianayagam, Arokiasamy Rajguru, Chhaya Sankhe, Lalit Talukdar, Arunansu Varghese, Mathew Yadati, Sathyanarayana Raju Zhao, Wei Leung, Yuk Yee Schellenberg, Gerard D. Wang, Yi Zhe Smith, Jennifer A. Dey, Sharmistha Ganna, Andrea Dey, Aparajit Ballav Kardia, Sharon L.R. Lee, Jinkook Moorjani, Priya Kerdoncuff, Elise |
| author2_role | author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| author_facet | Skov, Laurits Patterson, Nick Banerjee, Joyita Khobragade, Pranali Chakrabarti, Sankha S. Chakrawarty, Avinash Chatterjee, Prasun Dhar, Minakshi Gupta, Monica John, John P. Koul, Parvaiz A. Lehl, Sarabmeet S. Mohanty, Rashmi R. Padmaja, Mekala Perianayagam, Arokiasamy Rajguru, Chhaya Sankhe, Lalit Talukdar, Arunansu Varghese, Mathew Yadati, Sathyanarayana Raju Zhao, Wei Leung, Yuk Yee Schellenberg, Gerard D. Wang, Yi Zhe Smith, Jennifer A. Dey, Sharmistha Ganna, Andrea Dey, Aparajit Ballav Kardia, Sharon L.R. Lee, Jinkook Moorjani, Priya Kerdoncuff, Elise |
| author_role | author |
| dc.creator.none.fl_str_mv | Skov, Laurits Patterson, Nick Banerjee, Joyita Khobragade, Pranali Chakrabarti, Sankha S. Chakrawarty, Avinash Chatterjee, Prasun Dhar, Minakshi Gupta, Monica John, John P. Koul, Parvaiz A. Lehl, Sarabmeet S. Mohanty, Rashmi R. Padmaja, Mekala Perianayagam, Arokiasamy Rajguru, Chhaya Sankhe, Lalit Talukdar, Arunansu Varghese, Mathew Yadati, Sathyanarayana Raju Zhao, Wei Leung, Yuk Yee Schellenberg, Gerard D. Wang, Yi Zhe Smith, Jennifer A. Dey, Sharmistha Ganna, Andrea Dey, Aparajit Ballav Kardia, Sharon L.R. Lee, Jinkook Moorjani, Priya Kerdoncuff, Elise |
| dc.date.none.fl_str_mv | 2025-07-29T11:48:44Z 2025-06-26 |
| dc.format.none.fl_str_mv | application/pdf |
| dc.identifier.none.fl_str_mv | http://dx.doi.org/10.1016/j.cell.2025.04.027 Kerdoncuff, E., Skov, L., Patterson, N., Banerjee, J., Khobragade, P., Chakrabarti, S. S., ... & Moorjani, P. (2025). 50,000 years of evolutionary history of India: Impact on health and disease variation. Cell, 188(13), 3389-3404. 0092-8674 https://www.sciencedirect.com/science/article/pii/S0092867425004623 http://hdl.handle.net/10576/66664 3389-3404 13 188 1097-4172 |
| dc.language.none.fl_str_mv | en |
| dc.publisher.none.fl_str_mv | Elsevier |
| dc.rights.none.fl_str_mv | http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | genomic diversity in India South Asian evolutionary history ancient gene flow founder events Neanderthal ancestry Denisovan ancestry functional variation adaptation disease susceptibility peopling of India |
| dc.title.none.fl_str_mv | 50,000 years of evolutionary history of India: Impact on health and disease variation |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | 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. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | qu_5fd38d9e9eaa2ff3e87521ba3616462b |
| identifier_str_mv | Kerdoncuff, E., Skov, L., Patterson, N., Banerjee, J., Khobragade, P., Chakrabarti, S. S., ... & Moorjani, P. (2025). 50,000 years of evolutionary history of India: Impact on health and disease variation. Cell, 188(13), 3389-3404. 0092-8674 3389-3404 13 188 1097-4172 |
| language_invalid_str_mv | en |
| network_acronym_str | qu |
| network_name_str | Qatar University repository |
| oai_identifier_str | oai:qspace.qu.edu.qa:10576/66664 |
| publishDate | 2025 |
| publisher.none.fl_str_mv | Elsevier |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| spelling | 50,000 years of evolutionary history of India: Impact on health and disease variationSkov, LauritsPatterson, NickBanerjee, JoyitaKhobragade, PranaliChakrabarti, Sankha S.Chakrawarty, AvinashChatterjee, PrasunDhar, MinakshiGupta, MonicaJohn, John P.Koul, Parvaiz A.Lehl, Sarabmeet S.Mohanty, Rashmi R.Padmaja, MekalaPerianayagam, ArokiasamyRajguru, ChhayaSankhe, LalitTalukdar, ArunansuVarghese, MathewYadati, Sathyanarayana RajuZhao, WeiLeung, Yuk YeeSchellenberg, Gerard D.Wang, Yi ZheSmith, Jennifer A.Dey, SharmisthaGanna, AndreaDey, Aparajit BallavKardia, Sharon L.R.Lee, JinkookMoorjani, PriyaKerdoncuff, Elisegenomic diversity in IndiaSouth Asian evolutionary historyancient gene flowfounder eventsNeanderthal ancestryDenisovan ancestryfunctional variationadaptationdisease susceptibilitypeopling of IndiaIndia 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.This work was supported by: - the National Institute on Aging (grant number R01AG051125 , RF1AG055273 , and U01AG065958 ). - the NIA U01AG065958 and NIH R35GM142978. - the NovoNordisk Hallas-M\u00F8ller Emerging Investigator NNF23OC0081723 and U01AG065958.Elsevier2025-07-29T11:48:44Z2025-06-26Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://dx.doi.org/10.1016/j.cell.2025.04.027Kerdoncuff, E., Skov, L., Patterson, N., Banerjee, J., Khobragade, P., Chakrabarti, S. S., ... & Moorjani, P. (2025). 50,000 years of evolutionary history of India: Impact on health and disease variation. Cell, 188(13), 3389-3404.0092-8674https://www.sciencedirect.com/science/article/pii/S0092867425004623http://hdl.handle.net/10576/666643389-3404131881097-4172enhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:qspace.qu.edu.qa:10576/666642025-07-29T19:09:32Z |
| spellingShingle | 50,000 years of evolutionary history of India: Impact on health and disease variation Skov, Laurits genomic diversity in India South Asian evolutionary history ancient gene flow founder events Neanderthal ancestry Denisovan ancestry functional variation adaptation disease susceptibility peopling of India |
| status_str | publishedVersion |
| title | 50,000 years of evolutionary history of India: Impact on health and disease variation |
| title_full | 50,000 years of evolutionary history of India: Impact on health and disease variation |
| title_fullStr | 50,000 years of evolutionary history of India: Impact on health and disease variation |
| title_full_unstemmed | 50,000 years of evolutionary history of India: Impact on health and disease variation |
| title_short | 50,000 years of evolutionary history of India: Impact on health and disease variation |
| title_sort | 50,000 years of evolutionary history of India: Impact on health and disease variation |
| topic | genomic diversity in India South Asian evolutionary history ancient gene flow founder events Neanderthal ancestry Denisovan ancestry functional variation adaptation disease susceptibility peopling of India |
| url | http://dx.doi.org/10.1016/j.cell.2025.04.027 https://www.sciencedirect.com/science/article/pii/S0092867425004623 http://hdl.handle.net/10576/66664 |