Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans
| العنوان: | Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans |
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| المؤلفون: | Sebastiano Collino, Alberto Ferrarini, Armand Valsesia, Daniela Monti, Beatrice Arosio, Davide Pettener, Paolo Garagnani, Frederic Raymond, Jérôme Carayol, Julien Marquis, Stefania Sarno, Patrizia D'Aquila, Claudio Franceschi, Donata Luiselli, Sara De Fanti, Daniela Mari, Paolo Abondio, Matteo Ragno, Guido Alberto Gnecchi-Ruscone, Massimo Delledonne, Cristina Giuliani, Patrick Descombes, Marco Sazzini, Luciano Xumerle, Giuseppe Passarino, Chiara Pirazzini, Gastone Castellani, Alessio Boattini, Elena Marasco, Claudia Ojeda-Granados |
| المساهمون: | Sazzini M., Abondio P., Sarno S., Gnecchi-Ruscone G.A., Ragno M., Giuliani C., De Fanti S., Ojeda-Granados C., Boattini A., Marquis J., Valsesia A., Carayol J., Raymond F., Pirazzini C., Marasco E., Ferrarini A., Xumerle L., Collino S., Mari D., Arosio B., Monti D., Passarino G., D'Aquila P., Pettener D., Luiselli D., Castellani G., Delledonne M., Descombes P., Franceschi C., Garagnani P. |
| المصدر: | BMC Biology, Vol 18, Iss 1, Pp 1-19 (2020) BMC Biology |
| بيانات النشر: | BMC, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Physiology, Plant Science, Human genetic variation, Demographic inference, Evolutionary medicine, Italian population, Polygenic adaptation, Whole-genome sequences, Gene flow, 0302 clinical medicine, Structural Biology, lcsh:QH301-705.5, 0303 health sciences, education.field_of_study, Genome, Cline (biology), Archaeology, Italy, Gene pool, General Agricultural and Biological Sciences, Research Article, Human, Biotechnology, Evolution, European Continental Ancestry Group, Population, Biology, White People, General Biochemistry, Genetics and Molecular Biology, Ancient, Evolution, Molecular, 03 medical and health sciences, Genetic variation, Humans, DNA, Ancient, education, Evolutionary dynamics, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Genome, Human, Genetic Variation, Molecular, DNA, Cell Biology, lcsh:Biology (General), Evolutionary biology, 030217 neurology & neurosurgery, Developmental Biology |
| الوصف: | 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. |
| وصف الملف: | application/pdf; ELETTRONICO; application/vnd.openxmlformats-officedocument.wordprocessingml.document |
| اللغة: | English |
| تدمد: | 1741-7007 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7447d221959906cec07d0c00d6c5ea0Test http://link.springer.com/article/10.1186/s12915-020-00778-4Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f7447d221959906cec07d0c00d6c5ea0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17417007 |
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