近日，来自华中科技大学郭安源教授的最新研究成果“Genome-wide identification of SNPs in MicroRNA genes and the SNP effects on MicroRNA target binding and biogenesis。”发表在国际学术期刊Human Mutation(IF: 6.0 2010)，该研究揭示了miRNA的单核苷酸多态性位点（SNP）的研究新成果。
领导这一研究的是华中科技大学生命科学与技术学院的郭安源教授，主要从事生物信息学和系统生物学在复杂疾病中的研究，包括数据整合、数据库构建、miRNA调控、比较基因组学和二代测序数据的分析研究等。
miRNA是目前生物医学研究中的热点，它广泛参与动植物的生理病理过程。已有多篇文章报道miRNA或miRNA靶基因上的单核苷酸多态性位点（SNP）与疾病有关。该文章通过生物信息学方法确定人类所有miRNA基因上的SNP，分析这些SNP对miRNA靶基因的调节影响，并通过实验验证了部分SNP对miRNA和靶基因的结合影响，首次报道了miRNA中的SNP能产生新的靶基因结合位点。同时为方便同行研究，还构建了一个界面美观、简单易用的生物信息数据库miRNASNP (http://www.bioguo.org/miRNASNP/)。该文章对于探索miRNA的功能、寻找疾病相关SNP提供了非常有用的资源和信息。
转录因子是生物体内一类非常重要的转录调控蛋白，调节和控制各种生物学过程中的基因表达。郭安源教授得文章系统收集整理了全面的动物转录因子家族信息，建立了动物转录因子预测流程，对50种已测序的动物物种进行了全基因组转录因子的预测和分类，并进行了详细的功能注释，构建了全面的动物转录因子数据库，并精细设计了美观易用的动态网页界面（AnimalTFDB）。该研究为系统研究转录调控这一重要生物学过程和比较基因组学研究打下了坚实的基础。(生物谷Bioon.com)
doi:10.1002/humu.21641
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Genome-wide identification of SNPs in MicroRNA genes and the SNP effects on MicroRNA target binding and biogenesis
Gong J, Tong Y, Zhang HM, Wang K, Hu T, Shan G, Sun J, Guo AY.
MicroRNAs (miRNAs) are studied as key regulators of gene expression involved in different diseases. Several single nucleotide polymorphisms (SNPs) in miRNA genes or target sites (miRNA-related SNPs) have been proved to be associated with human diseases by affecting the miRNA-mediated regulatory function. To systematically analyze miRNA-related SNPs and their effects, we performed a genome-wide scan for SNPs in human pre-miRNAs, miRNA flanking regions, target sites, and designed a pipeline to predict the effects of them on miRNA-target interaction. As a result, we identified 48 SNPs in human miRNA seed regions and thousands of SNPs in 3' untranslated regions with the potential to either disturb or create miRNA-target interactions. Furthermore, we experimentally confirmed seven loss-of-function SNPs and one gain-of-function SNP by luciferase assay. This is the first case of experimental validation of an SNP in an miRNA creating a novel miRNA target binding. All useful data were complied into miRNASNP, a user-friendly free online database (http://www.bioguo.org/miRNASNP/). These data will be a useful resource for studying miRNA function, identifying disease-associated miRNAs, and further personalized medicine.
