Fumagalli Matteo, Sironi Manuela
UCL Genetics Institute, Department of Genetics, Evolution and Environment, University College London, Gower Street, London WC1E 6BT, United Kingdom.
Bioinformatics - Scientific Institute IRCCS E.MEDEA, 23842 Bosisio Parini, Italy.
Curr Opin Immunol. 2014 Oct;30:9-16. doi: 10.1016/j.coi.2014.05.001. Epub 2014 May 29.
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.
近期大规模测序DNA数据的可得性使研究人员能够探究基因组变异在人群中的分布情况。虽然人口统计学因素解释了全基因组的群体遗传多样性水平，但对自然选择特征的扫描确定了几个处于非中性进化的区域。近期研究发现，受到自然选择的免疫相关基因有所富集，这表明病原体和传染病在整个人类历史中施加了强大的选择压力。病原体介导的选择通常针对属于同一生物途径的基因的调控位点。这些研究的结果有可能通过将群体基因组方法与分子免疫学数据及大规模功能注释相结合，来识别调节感染易感性的突变。
