近日，來自華中科技大學(xué)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,。”發(fā)表在國際學(xué)術(shù)期刊Human Mutation(IF: 6.0 2010),，該研究揭示了miRNA的單核苷酸多態(tài)性位點(diǎn)（SNP）的研究新成果。
領(lǐng)導(dǎo)這一研究的是華中科技大學(xué)生命科學(xué)與技術(shù)學(xué)院的郭安源教授,，主要從事生物信息學(xué)和系統(tǒng)生物學(xué)在復(fù)雜疾病中的研究,，包括數(shù)據(jù)整合、數(shù)據(jù)庫構(gòu)建,、miRNA調(diào)控,、比較基因組學(xué)和二代測序數(shù)據(jù)的分析研究等。
miRNA是目前生物醫(yī)學(xué)研究中的熱點(diǎn),，它廣泛參與動植物的生理病理過程,。已有多篇文章報道m(xù)iRNA或miRNA靶基因上的單核苷酸多態(tài)性位點(diǎn)（SNP）與疾病有關(guān)。該文章通過生物信息學(xué)方法確定人類所有miRNA基因上的SNP,，分析這些SNP對miRNA靶基因的調(diào)節(jié)影響,，并通過實(shí)驗(yàn)驗(yàn)證了部分SNP對miRNA和靶基因的結(jié)合影響，首次報道了miRNA中的SNP能產(chǎn)生新的靶基因結(jié)合位點(diǎn),。同時為方便同行研究,，還構(gòu)建了一個界面美觀、簡單易用的生物信息數(shù)據(jù)庫miRNASNP (http://www.bioguo.org/miRNASNP/),。該文章對于探索miRNA的功能,、尋找疾病相關(guān)SNP提供了非常有用的資源和信息。
轉(zhuǎn)錄因子是生物體內(nèi)一類非常重要的轉(zhuǎn)錄調(diào)控蛋白,，調(diào)節(jié)和控制各種生物學(xué)過程中的基因表達(dá),。郭安源教授得文章系統(tǒng)收集整理了全面的動物轉(zhuǎn)錄因子家族信息，建立了動物轉(zhuǎn)錄因子預(yù)測流程,，對50種已測序的動物物種進(jìn)行了全基因組轉(zhuǎn)錄因子的預(yù)測和分類,，并進(jìn)行了詳細(xì)的功能注釋，構(gòu)建了全面的動物轉(zhuǎn)錄因子數(shù)據(jù)庫,，并精細(xì)設(shè)計了美觀易用的動態(tài)網(wǎng)頁界面（AnimalTFDB）,。該研究為系統(tǒng)研究轉(zhuǎn)錄調(diào)控這一重要生物學(xué)過程和比較基因組學(xué)研究打下了堅實(shí)的基礎(chǔ)。(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.
