481 Ultraconserved sequences (UCRs) were discovered in the genomes of human, mice and rats. These are DNA sequences 200-779 base pairs in length and showing 100 percent identity among the three species. They have been implicated in both the regulation of alternative splicing of genes involved in RNA processing and the transcriptional regulation of genes involved in early development. Moreover, most recent studies suggest that UCRs play a functional role in vertebrate genomes, such as serving as long-range enhancers of flanking genes, regulating splicing and epigenetic modifications, and functioning as transcriptional co-activator. The depletion of UCRs among copy number variation as well as the significant under-representation of single-nucleotide polymorphisms (SNPs) within UCRs have also revealed their evolutional and functional importance. It has been shown that their expression is consistently altered in tumors, strongly suggesting these elements may also be involved in human disease such as cancer development. Since the date of their discovery no database has been created even if UCRs are frequently located at genomic regions involved in several diseases and found probably regulated by MicroRNAs (miRNAs) abnormally expressed. Here we show a database which links UCRs, miRNAs with cancer and Mendelian Inheritance human disorders. The current release contains over 2000 sequences from three species (human, mouse and rat). As a web application, UCbase & miRfunc is platform independent and it is accessible at http://microrna.osu.edu/.UCbase4
Ucbase and miRfunc: A database which links ultraconserved sequences and microRNA with cancer and mendelian inheritance human disorders
VISONE, Rosa;
2009-01-01
Abstract
481 Ultraconserved sequences (UCRs) were discovered in the genomes of human, mice and rats. These are DNA sequences 200-779 base pairs in length and showing 100 percent identity among the three species. They have been implicated in both the regulation of alternative splicing of genes involved in RNA processing and the transcriptional regulation of genes involved in early development. Moreover, most recent studies suggest that UCRs play a functional role in vertebrate genomes, such as serving as long-range enhancers of flanking genes, regulating splicing and epigenetic modifications, and functioning as transcriptional co-activator. The depletion of UCRs among copy number variation as well as the significant under-representation of single-nucleotide polymorphisms (SNPs) within UCRs have also revealed their evolutional and functional importance. It has been shown that their expression is consistently altered in tumors, strongly suggesting these elements may also be involved in human disease such as cancer development. Since the date of their discovery no database has been created even if UCRs are frequently located at genomic regions involved in several diseases and found probably regulated by MicroRNAs (miRNAs) abnormally expressed. Here we show a database which links UCRs, miRNAs with cancer and Mendelian Inheritance human disorders. The current release contains over 2000 sequences from three species (human, mouse and rat). As a web application, UCbase & miRfunc is platform independent and it is accessible at http://microrna.osu.edu/.UCbase4I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
