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Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans
BACKGROUND: The cline of human genetic diversity observable across Europe is recapitulated at a micro-geographic scale by variation within the Italian population. Besides resulting from extensive gene flow, this might be ascribable also to local adaptations to diverse ecological contexts evolved by...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243322/ https://www.ncbi.nlm.nih.gov/pubmed/32438927 http://dx.doi.org/10.1186/s12915-020-00778-4 |
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author | Sazzini, Marco Abondio, Paolo Sarno, Stefania Gnecchi-Ruscone, Guido Alberto Ragno, Matteo Giuliani, Cristina De Fanti, Sara Ojeda-Granados, Claudia Boattini, Alessio Marquis, Julien Valsesia, Armand Carayol, Jerome Raymond, Frederic Pirazzini, Chiara Marasco, Elena Ferrarini, Alberto Xumerle, Luciano Collino, Sebastiano Mari, Daniela Arosio, Beatrice Monti, Daniela Passarino, Giuseppe D’Aquila, Patrizia Pettener, Davide Luiselli, Donata Castellani, Gastone Delledonne, Massimo Descombes, Patrick Franceschi, Claudio Garagnani, Paolo |
author_facet | Sazzini, Marco Abondio, Paolo Sarno, Stefania Gnecchi-Ruscone, Guido Alberto Ragno, Matteo Giuliani, Cristina De Fanti, Sara Ojeda-Granados, Claudia Boattini, Alessio Marquis, Julien Valsesia, Armand Carayol, Jerome Raymond, Frederic Pirazzini, Chiara Marasco, Elena Ferrarini, Alberto Xumerle, Luciano Collino, Sebastiano Mari, Daniela Arosio, Beatrice Monti, Daniela Passarino, Giuseppe D’Aquila, Patrizia Pettener, Davide Luiselli, Donata Castellani, Gastone Delledonne, Massimo Descombes, Patrick Franceschi, Claudio Garagnani, Paolo |
author_sort | Sazzini, Marco |
collection | PubMed |
description | BACKGROUND: The cline of human genetic diversity observable across Europe is recapitulated at a micro-geographic scale by variation within the Italian population. Besides resulting from extensive gene flow, this might be ascribable also to local adaptations to diverse ecological contexts evolved by people who anciently spread along the Italian Peninsula. Dissecting the evolutionary history of the ancestors of present-day Italians may thus improve the understanding of demographic and biological processes that contributed to shape the gene pool of European populations. However, previous SNP array-based studies failed to investigate the full spectrum of Italian variation, generally neglecting low-frequency genetic variants and examining a limited set of small effect size alleles, which may represent important determinants of population structure and complex adaptive traits. To overcome these issues, we analyzed 38 high-coverage whole-genome sequences representative of population clusters at the opposite ends of the cline of Italian variation, along with a large panel of modern and ancient Euro-Mediterranean genomes. RESULTS: We provided evidence for the early divergence of Italian groups dating back to the Late Glacial and for Neolithic and distinct Bronze Age migrations having further differentiated their gene pools. We inferred adaptive evolution at insulin-related loci in people from Italian regions with a temperate climate, while possible adaptations to pathogens and ultraviolet radiation were observed in Mediterranean Italians. Some of these adaptive events may also have secondarily modulated population disease or longevity predisposition. CONCLUSIONS: We disentangled the contribution of multiple migratory and adaptive events in shaping the heterogeneous Italian genomic background, which exemplify population dynamics and gene-environment interactions that played significant roles also in the formation of the Continental and Southern European genomic landscapes. |
format | Online Article Text |
id | pubmed-7243322 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-72433222020-05-29 Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans Sazzini, Marco Abondio, Paolo Sarno, Stefania Gnecchi-Ruscone, Guido Alberto Ragno, Matteo Giuliani, Cristina De Fanti, Sara Ojeda-Granados, Claudia Boattini, Alessio Marquis, Julien Valsesia, Armand Carayol, Jerome Raymond, Frederic Pirazzini, Chiara Marasco, Elena Ferrarini, Alberto Xumerle, Luciano Collino, Sebastiano Mari, Daniela Arosio, Beatrice Monti, Daniela Passarino, Giuseppe D’Aquila, Patrizia Pettener, Davide Luiselli, Donata Castellani, Gastone Delledonne, Massimo Descombes, Patrick Franceschi, Claudio Garagnani, Paolo BMC Biol Research Article BACKGROUND: The cline of human genetic diversity observable across Europe is recapitulated at a micro-geographic scale by variation within the Italian population. Besides resulting from extensive gene flow, this might be ascribable also to local adaptations to diverse ecological contexts evolved by people who anciently spread along the Italian Peninsula. Dissecting the evolutionary history of the ancestors of present-day Italians may thus improve the understanding of demographic and biological processes that contributed to shape the gene pool of European populations. However, previous SNP array-based studies failed to investigate the full spectrum of Italian variation, generally neglecting low-frequency genetic variants and examining a limited set of small effect size alleles, which may represent important determinants of population structure and complex adaptive traits. To overcome these issues, we analyzed 38 high-coverage whole-genome sequences representative of population clusters at the opposite ends of the cline of Italian variation, along with a large panel of modern and ancient Euro-Mediterranean genomes. RESULTS: We provided evidence for the early divergence of Italian groups dating back to the Late Glacial and for Neolithic and distinct Bronze Age migrations having further differentiated their gene pools. We inferred adaptive evolution at insulin-related loci in people from Italian regions with a temperate climate, while possible adaptations to pathogens and ultraviolet radiation were observed in Mediterranean Italians. Some of these adaptive events may also have secondarily modulated population disease or longevity predisposition. CONCLUSIONS: We disentangled the contribution of multiple migratory and adaptive events in shaping the heterogeneous Italian genomic background, which exemplify population dynamics and gene-environment interactions that played significant roles also in the formation of the Continental and Southern European genomic landscapes. BioMed Central 2020-05-22 /pmc/articles/PMC7243322/ /pubmed/32438927 http://dx.doi.org/10.1186/s12915-020-00778-4 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Article Sazzini, Marco Abondio, Paolo Sarno, Stefania Gnecchi-Ruscone, Guido Alberto Ragno, Matteo Giuliani, Cristina De Fanti, Sara Ojeda-Granados, Claudia Boattini, Alessio Marquis, Julien Valsesia, Armand Carayol, Jerome Raymond, Frederic Pirazzini, Chiara Marasco, Elena Ferrarini, Alberto Xumerle, Luciano Collino, Sebastiano Mari, Daniela Arosio, Beatrice Monti, Daniela Passarino, Giuseppe D’Aquila, Patrizia Pettener, Davide Luiselli, Donata Castellani, Gastone Delledonne, Massimo Descombes, Patrick Franceschi, Claudio Garagnani, Paolo Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans |
title | Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans |
title_full | Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans |
title_fullStr | Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans |
title_full_unstemmed | Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans |
title_short | Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans |
title_sort | genomic history of the italian population recapitulates key evolutionary dynamics of both continental and southern europeans |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243322/ https://www.ncbi.nlm.nih.gov/pubmed/32438927 http://dx.doi.org/10.1186/s12915-020-00778-4 |
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