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Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas

American populations are one of the most interesting examples of recently admixed groups, where ancestral components from three major continental human groups (Africans, Eurasians and Native Americans) have admixed within the last 15 generations. Recently, several genetic surveys focusing on thousan...

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Autores principales: Ongaro, Linda, Mondal, Mayukh, Flores, Rodrigo, Marnetto, Davide, Molinaro, Ludovica, Alarcón-Riquelme, Marta E, Moreno-Estrada, Andrés, Mabunda, Nedio, Ventura, Mario, Tambets, Kristiina, Hellenthal, Garrett, Capelli, Cristian, Kivisild, Toomas, Metspalu, Mait, Pagani, Luca, Montinaro, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8561420/
https://www.ncbi.nlm.nih.gov/pubmed/34196708
http://dx.doi.org/10.1093/hmg/ddab177
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author Ongaro, Linda
Mondal, Mayukh
Flores, Rodrigo
Marnetto, Davide
Molinaro, Ludovica
Alarcón-Riquelme, Marta E
Moreno-Estrada, Andrés
Mabunda, Nedio
Ventura, Mario
Tambets, Kristiina
Hellenthal, Garrett
Capelli, Cristian
Kivisild, Toomas
Metspalu, Mait
Pagani, Luca
Montinaro, Francesco
author_facet Ongaro, Linda
Mondal, Mayukh
Flores, Rodrigo
Marnetto, Davide
Molinaro, Ludovica
Alarcón-Riquelme, Marta E
Moreno-Estrada, Andrés
Mabunda, Nedio
Ventura, Mario
Tambets, Kristiina
Hellenthal, Garrett
Capelli, Cristian
Kivisild, Toomas
Metspalu, Mait
Pagani, Luca
Montinaro, Francesco
author_sort Ongaro, Linda
collection PubMed
description American populations are one of the most interesting examples of recently admixed groups, where ancestral components from three major continental human groups (Africans, Eurasians and Native Americans) have admixed within the last 15 generations. Recently, several genetic surveys focusing on thousands of individuals shed light on the geography, chronology and relevance of these events. However, even though gene flow could drive adaptive evolution, it is unclear whether and how natural selection acted on the resulting genetic variation in the Americas. In this study, we analysed the patterns of local ancestry of genomic fragments in genome-wide data for ~ 6000 admixed individuals from 10 American countries. In doing so, we identified regions characterized by a divergent ancestry profile (DAP), in which a significant over or under ancestral representation is evident. Our results highlighted a series of genomic regions with DAPs associated with immune system response and relevant medical traits, with the longest DAP region encompassing the human leukocyte antigen locus. Furthermore, we found that DAP regions are enriched in genes linked to cancer-related traits and autoimmune diseases. Then, analysing the biological impact of these regions, we showed that natural selection could have acted preferentially towards variants located in coding and non-coding transcripts and characterized by a high deleteriousness score. Taken together, our analyses suggest that shared patterns of post admixture adaptation occurred at a continental scale in the Americas, affecting more often functional and impactful genomic variants.
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spelling pubmed-85614202021-11-03 Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas Ongaro, Linda Mondal, Mayukh Flores, Rodrigo Marnetto, Davide Molinaro, Ludovica Alarcón-Riquelme, Marta E Moreno-Estrada, Andrés Mabunda, Nedio Ventura, Mario Tambets, Kristiina Hellenthal, Garrett Capelli, Cristian Kivisild, Toomas Metspalu, Mait Pagani, Luca Montinaro, Francesco Hum Mol Genet General Article American populations are one of the most interesting examples of recently admixed groups, where ancestral components from three major continental human groups (Africans, Eurasians and Native Americans) have admixed within the last 15 generations. Recently, several genetic surveys focusing on thousands of individuals shed light on the geography, chronology and relevance of these events. However, even though gene flow could drive adaptive evolution, it is unclear whether and how natural selection acted on the resulting genetic variation in the Americas. In this study, we analysed the patterns of local ancestry of genomic fragments in genome-wide data for ~ 6000 admixed individuals from 10 American countries. In doing so, we identified regions characterized by a divergent ancestry profile (DAP), in which a significant over or under ancestral representation is evident. Our results highlighted a series of genomic regions with DAPs associated with immune system response and relevant medical traits, with the longest DAP region encompassing the human leukocyte antigen locus. Furthermore, we found that DAP regions are enriched in genes linked to cancer-related traits and autoimmune diseases. Then, analysing the biological impact of these regions, we showed that natural selection could have acted preferentially towards variants located in coding and non-coding transcripts and characterized by a high deleteriousness score. Taken together, our analyses suggest that shared patterns of post admixture adaptation occurred at a continental scale in the Americas, affecting more often functional and impactful genomic variants. Oxford University Press 2021-07-01 /pmc/articles/PMC8561420/ /pubmed/34196708 http://dx.doi.org/10.1093/hmg/ddab177 Text en © The Author(s) 2021. Published by Oxford University Press. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle General Article
Ongaro, Linda
Mondal, Mayukh
Flores, Rodrigo
Marnetto, Davide
Molinaro, Ludovica
Alarcón-Riquelme, Marta E
Moreno-Estrada, Andrés
Mabunda, Nedio
Ventura, Mario
Tambets, Kristiina
Hellenthal, Garrett
Capelli, Cristian
Kivisild, Toomas
Metspalu, Mait
Pagani, Luca
Montinaro, Francesco
Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas
title Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas
title_full Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas
title_fullStr Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas
title_full_unstemmed Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas
title_short Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas
title_sort continental-scale genomic analysis suggests shared post-admixture adaptation in the americas
topic General Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8561420/
https://www.ncbi.nlm.nih.gov/pubmed/34196708
http://dx.doi.org/10.1093/hmg/ddab177
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