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PDbase: a database of Parkinson's Disease-related genes and genetic variation using substantia nigra ESTs

机译:PDbase:使用黑质EST进行的帕金森氏病相关基因和遗传变异的数据库

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BackgroundParkinson's disease (PD) is one of the most common neurodegenerative disorders, clinically characterized by impaired motor function. Since the etiology of PD is diverse and complex, many researchers have created PD-related research resources. However, resources for brain and PD studies are still lacking. Therefore, we have constructed a database of PD-related gene and genetic variations using the substantia nigra (SN) in PD and normal tissues. In addition, we integrated PD-related information from several resources.ResultsWe collected the 6,130 SN expressed sequenced tags (ESTs) from brain SN normal tissues and PD patients SN tissues using full-cDNA library and normalized cDNA library construction methods from our previous study. The SN ESTs were clustered in 2,951 unigene clusters and assigned in 2,678 genes. We then found up-regulated 57 genes and down-regulated 48 genes by comparing normal and PD SN ESTs frequencies with over 0.9 cut-off probability of differential expression based on the Audic and Claverie method. In addition, we integrated disease-related information from public resources. To examine the characteristics of these PD-related genes, we analyzed alternative splicing events, single nucleotide polymorphism (SNP) markers located in the gene regions, repeat elements, gene regulation elements, and pathways and protein-protein interaction networks.ConclusionWe constructed the PDbase database to capture the PD-related gene, genetic variation, and functional elements. This database contains 2,698 PD-related genes through ESTs discovered from human normal and PD patients SN tissues, and through integrating several public resources. PDbase provides the mitochondrion proteins, microRNA gene regulation elements, single nucleotide polymorphisms (SNPs) markers within PD-related gene structures, repeat elements, and pathways and networks with protein-protein interaction information. The PDbase information can aid in understanding the causation of PD. It is available at http://bioportal.kobic.re.kr/PDbase/. Supplementary data is available at http://bioportal.kobic.re.kr/PDbase/suppl.jsp
机译:背景帕金森氏病(PD)是最常见的神经退行性疾病之一,临床上以运动功能受损为特征。由于PD的病因是多种多样且复杂的,因此许多研究人员创建了PD相关的研究资源。但是,仍然缺乏用于脑和PD研究的资源。因此,我们使用PD和正常组织中的黑质(SN)构建了PD相关基因和遗传变异的数据库。此外,我们还整合了来自多种资源的PD相关信息。结果我们使用完整的cDNA文库和标准化的cDNA文库构建方法,从大脑SN正常组织和PD患者SN组织中收集了6,130个SN表达的序列标签(EST)。 SN EST聚集在2,951个单基因簇中,并分配给2,678个基因。然后,通过比较基于Audic和Claverie方法的正常表达和PD SN EST的频率以及超过0.9的差异表达截断概率,我们发现了上调的57个基因和下调的48个基因。此外,我们整合了来自公共资源的疾病相关信息。为了检查这些与PD相关的基因的特征,我们分析了其他剪接事件,位于基因区域的单核苷酸多态性(SNP)标记,重复元件,基因调控元件以及途径和蛋白质-蛋白质相互作用网络。数据库以捕获与PD相关的基因,遗传变异和功能元件。该数据库包含通过从人类正常人和PD患者的SN组织中发现的EST以及通过整合若干公共资源而获得的2,698个PD相关基因。 PDbase提供了线粒体蛋白质,microRNA基因调控元件,PD相关基因结构内的单核苷酸多态性(SNP)标记,重复元件以及具有蛋白质间相互作用信息的途径和网络。 PDbase信息可以帮助理解PD的原因。可从http://bioportal.kobic.re.kr/PDbase/获得。有关补充数据,请访问http://bioportal.kobic.re.kr/PDbase/suppl.jsp

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