variability in the incidence of mirnas and genes in fragile sites and the role of repeats and cpg islands in the distribution of genetic material变异的发生率microrna在脆弱的网站和重复的作用和基因在遗传物质的分布和cpg岛.pdfVIP
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variability in the incidence of mirnas and genes in fragile sites and the role of repeats and cpg islands in the distribution of genetic material变异的发生率microrna在脆弱的网站和重复的作用和基因在遗传物质的分布和cpg岛
Variability in the Incidence of miRNAs and Genes in Fragile Sites and the Role of Repeats and CpG Islands in the Distribution of Genetic Material ` 1 . 2. 3 1 1 Alessandro Lagana * , Francesco Russo , Catarina Sismeiro , Rosalba Giugno , Alfredo Pulvirenti , Alfredo Ferro1,2* 1 Department of Mathematics and Computer Science, University of Catania, Catania, Italy, 2 Department of Biomedical Sciences, University of Catania, Catania, Italy, 3 Imperial College Business School, Imperial College London, London, United Kingdom Abstract Background: Chromosomal fragile sites are heritable specific loci especially prone to breakage. Some of them are associated with human genetic disorders and several studies have demonstrated their importance in genome instability in cancer. MicroRNAs (miRNAs) are small non-coding RNAs responsible of post-transcriptional gene regulation and their involvement in several diseases such as cancer has been widely demonstrated. The altered expression of miRNAs is sometimes due to chromosomal rearrangements and epigenetic events, thus it is essential to study miRNAs in the context of their genomic locations, in order to find significant correlations between their aberrant expression and the phenotype. Principal Findings: Here we use statistical models to study the incidence of human miRNA genes on fragile sites and their association with cancer-specific translocation breakpoints, repetitive elements, and CpG islands. Our results show that, on average, fragile sites are denser in miRNAs and also in protein coding genes. However, the distribution of miRNAs and protein coding genes in fragile versus non-fragil
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