Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans
Posted on 2020-05-22 - 03:32
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.
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Sazzini, Marco; Abondio, Paolo; Sarno, Stefania; Gnecchi-Ruscone, Guido Alberto; Ragno, Matteo; Giuliani, Cristina; et al. (2020). Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.4988897.v1
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AUTHORS (30)
MS
Marco Sazzini
PA
Paolo Abondio
SS
Stefania Sarno
GG
Guido Alberto Gnecchi-Ruscone
MR
Matteo Ragno
CG
Cristina Giuliani
SD
Sara De Fanti
CO
Claudia Ojeda-Granados
AB
Alessio Boattini
JM
Julien Marquis
AV
Armand Valsesia
JC
Jerome Carayol
FR
Frederic Raymond
CP
Chiara Pirazzini
EM
Elena Marasco
AF
Alberto Ferrarini
LX
Luciano Xumerle
SC
Sebastiano Collino
DM
Daniela Mari
BA
Beatrice Arosio