title: Human genome variability, natural selection and infectious diseases.
abstract: The recent availability of large-scale sequencing DNA data allowed researchers to investigate how genomic variation is distributed among populations. While demographic factors explain genome-wide population genetic diversity levels, scans for signatures of natural selection pinpointed several regions under non-neutral evolution. Recent studies found an enrichment of immune-related genes subjected to natural selection, suggesting that pathogens and infectious diseases have imposed a strong selective pressure throughout human history. Pathogen-mediated selection often targeted regulatory sites of genes belonging to the same biological pathway. Results from these studies have the potential to identify mutations that modulate infection susceptibility by integrating a population genomic approach with molecular immunology data and large-scale functional annotations.
authors.affiliation: UCL Genetics Institute, Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT, United Kingdom. Electronic address: m.fumagalli@ucl.ac.uk.
authors.forename: Matteo
authors.initials: M
authors.lastname: Fumagalli
authors.affiliation: Bioinformatics - Scientific Institute IRCCS E.MEDEA, 23842 Bosisio Parini, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Sironi
mesh_terms: D000818:Animals; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D007239:Infections / Q000235:genetics*; D012641:Selection, Genetic