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Báo cáo y học: " Genome-wide functional analysis of human 5’ untranslated region introns"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Genome-wide functional analysis of human 5’ untranslated region introns. | Cenik et al. Genome Biology 2010 11 R29 http genomebiology.eom 2010 11 3 R29 w Genome Biology RESEARCH Open Access Genome-wide functional analysis of human 5 untranslated region introns z z I 1 1 1 1 1.2 Can Cenik Adnan Derti Joseph C Mellor Gabriel F Berriz Frederick P Roth Abstract Background Approximately 35 of human genes contain introns within the 5 untranslated region UTR . Introns in 5 UTRs differ from those in coding regions and 3 UTRs with respect to nucleotide composition length distribution and density. Despite their presumed impact on gene regulation the evolution and possible functions of 5 UTR introns remain largely unexplored. Results We performed a genome-scale computational analysis of 5 UTR introns in humans. We discovered that the most highly expressed genes tended to have short 5 UTR introns rather than having long 5 UTR introns or lacking 5 UTR introns entirely. Although we found no correlation in 5 UTR intron presence or length with variance in expression across tissues which might have indicated a broad role in expression-regulation we observed an uneven distribution of 5 UTR introns amongst genes in specific functional categories. In particular genes with regulatory roles were surprisingly enriched in having 5 UTR introns. Finally we analyzed the evolution of 5 UTR introns in non-receptor protein tyrosine kinases NRTK and identified a conserved DNA motif enriched within the 5 UTR introns of human NRTKs. Conclusions Our results suggest that human 5 UTR introns enhance the expression of some genes in a lengthdependent manner. While many 5 UTR introns are likely to be evolving neutrally their relationship with gene expression and overrepresentation among regulatory genes taken together suggest that complex evolutionary forces are acting on this distinct class of introns. Background The advent evolution and functional significance of introns in eukaryotes have been topics of intense debate over the past 30 years reviewed in 1 2 . There are two .