Natural Selection & Human Adaptability

PI: Marco Sazzini
Testing multiple models of natural selection is become possible thanks to the most up-to-date experimental approaches for characterizing genomic variability of human populations, as well as to the methodological improvements recently achieved in detection of the signatures left by selection on the human genome. This enables us to exhaustively investigate the adaptive processes occurred in the recent human evolutionary history in response to a range of selective pressures.

Following H. sapiens diffusion out of Africa, occupation of a range of different environments has prompted ecological and cultural changes that introduced novel challenges to our organism due to selective pressures different with respect to those that have shaped the evolution of our African ancestors. This has driven a number of local adaptive events in response to peculiar climate conditions, nutritional resources and/or pathogens’ landscapes, which are mediated by the action of natural selection on the gene pool of the targeted populations. Despite a number of phenotypic features (e.g. skin pigmentation, height, lactase persistence, adaptation to high-altitude hypoxia, etc.) that are advantageous in a given environment has been long investigated, the genetic bases of most complex adaptive traits have been not elucidated so far.
Recent improvements in high-throughput genotyping and massive parallel sequencing technologies, coupled with the development of new statistical methods to test for the occurrence also of soft sweeps (e.g. selection on multiple genes and/or on standing variation) have provided new opportunities to effectively search for signatures of the action of natural selection on the human genome. It is thus possible to identify variants with single small effect on the phenotype, but concurrently contributing to polygenic adaptation. This promises to represent a milestone in such a research filed because this typology of selection is supposed to have played a substantial role in shaping the evolution of human adaptability to different environmental and cultural contexts.


Inferring migrations, admixture, and biological adaptations of populations from Western Mediterranean islands
PRIN2020 Grant: Crossing the Sea: ancient and modern human genomes to study the evolutionary dynamics of Sicily, Sardinia and Corsica.

Testing for convergent adaptation to high-altitude of Andean and Himalayan populations
Development of Aina Rill's ERASMUS+ thesis: Searching for the genetic determinants of high-altitude adaptation in Andean human populations (A.Y. 2019/2020, Master's Degree in Bioinformatics for Health Sciences, Postgraduate Program in Biomedicine, Pompeu Fabra University, Barcelona)

Inferring the demographic and adaptive evolution of Southern Himalayan populations
Guido Alberto Gnecchi Ruscone PhD project for the XXX cycle of the PhD Course in Earth, Life and Environmental Sciences: Unraveling the combined effects of demography and natural selection in shaping the genomic background of Southern Himalayan populations

Searching for genomic adaptations to rice-based diets in Asian populations
Development of Shaobo Yu's thesis: A bioinformatics pipeline to investigate the genetic bases of human adaptation to rice consumption (A.Y. 2014/2015, Master's Degree in Bioinformatics) and of Arianna Landini's thesis: Inferring the adaptive evolution of Asian populations in response to rice-based diets (A.Y. 2016/2017, Master's Degree in Biodiversity and Evolution)