TY - JOUR
T1 - Human genome variability, natural selection and infectious diseases
AU - Fumagalli, Matteo
AU - Sironi, Manuela
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
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U2 - 10.1016/j.coi.2014.05.001
DO - 10.1016/j.coi.2014.05.001
M3 - Article
C2 - 24880709
AN - SCOPUS:84901440603
VL - 30
SP - 9
EP - 16
JO - Current Opinion in Immunology
JF - Current Opinion in Immunology
SN - 0952-7915
IS - 1
ER -