Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans

BMC Biology

Claudio Franceschi¹  Guido Alberto Gnecchi-Ruscone²  Patrizia D’Aquila³  Giuseppe Passarino³  Donata Luiselli⁴  Daniela Monti⁵  Elena Marasco⁶  Luciano Xumerle⁷  Massimo Delledonne⁷  Alberto Ferrarini⁷  Beatrice Arosio⁸  Daniela Mari⁸  Chiara Pirazzini⁹  Paolo Garagnani^1,10  Gastone Castellani^1,10  Matteo Ragno^1,11  Stefania Sarno^1,11  Claudia Ojeda-Granados^1,11  Davide Pettener^1,11  Paolo Abondio^1,11  Sara De Fanti^1,11  Cristina Giuliani^1,11  Alessio Boattini^1,11  Marco Sazzini^1,11  Jerome Carayol^1,12  Sebastiano Collino^1,12  Julien Marquis^1,12  Armand Valsesia^1,12  Frederic Raymond^1,12  Patrick Descombes^1,12 

[1] Department of Applied Mathematics, Institute of Information Technology, Lobachevsky University of Nizhny Novgorod;Department of Archaeogenetics, Max Planck Institute for the Science of Human History;Department of Biology, Ecology and Earth Sciences, University of Calabria;Department of Cultural Heritage, University of Bologna;Department of Experimental and Clinical Biomedical Sciences “Mario Serio”, University of Florence;Department of Experimental, Diagnostic, and Specialty Medicine, University of Bologna;Functional Genomics Laboratory, Department of Biotechnology, University of Verona;Geriatric Unit, Fondazione Ca’ Granda, IRCCS Ospedale Maggiore Policlinico;IRCCS Bologna Institute of Neurological Sciences;Interdepartmental Centre Alma Mater Research Institute on Global Challenges and Climate Change, University of Bologna;Laboratory of Molecular Anthropology & Centre for Genome Biology, Department of Biological, Geological and Environmental Sciences, University of Bologna;Nestlé Research, EPFL Innovation Park;

关键词: Italian population;    Whole-genome sequences;    Demographic inference;    Polygenic adaptation;    Evolutionary medicine;   

DOI  :  10.1186/s12915-020-00778-4

来源: DOAJ

【 摘 要 】

Abstract 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.

【 授权许可】

Unknown