The Role of Untranslated RNAs in Regulation of Gene Expression and Disease

For 50 years, the term “gene” has been synonymous with regions of the genome encoding mRNAs that are translated into protein. However, recent genome-wide studies have shown that the human genome is pervasively transcribed and produces many thousands of regulatory non-protein-coding RNAs including MicroRNAs, Small Interfering RNAs and Small Nucleolar RNAs, functional molecules that belong to small and long non-coding RNAs. According to recent studies, it is now clear that these RNAs play critical roles as transcriptional and post-transcriptional regulators, and are active in gene silencing and DNA demethylation. Evidence shows that intergenic regions are related with the expression of non-coding RNAs of complex diseases and their application, as a marker for diagnosis and treatment, is useful. These observations emphasize the need to move beyond the confines of protein-coding genes and highlight the fact that continued investigation of non-coding RNA biogenesis and function will be necessary for a comprehensive understanding of human diseases.