engleski

PostGenetics Medicine

The term “ Junk” DNA, originally coined to describe repetitive satellite DNA elements, became a generic term for non-protein coding DNA. With completion of the Human Genome Project, “ Junk” DNA was found to comprise 98.7% of the sequenced genome, with only an estimated 25, 000 genes comprising the 1.3% protein coding sequence. The Human Genome Project and gene typing alone, failed to meet the expectations of those who sought a genic explanation of genetic risk to many common diseases. Due to increasing evidence for diseases originating in non-protein coding DNA or “ Junk” DNA, genetics had moved beyond genes, opening the gateway towards unravelling diseases beyond the gene definition and promoting “ PostGenetics Medicine” as priority by funding agencies. The International PostGenetics Society (IPGS ; http://www.junkdna.com/postgenetics/) was established in 2005, a century after Bateson coined the term Genetics, to give priority by an International Organization to inquiry beyond protein-coding genes. The IPGS proposes a transdisciplinary effort, with policies suitable to accelerating awareness and understanding the pathogenesis of non-coding DNA diseases. Non-coding DNA and RNA have made an appearance as critical factors in many diseases including cancer initiation and progression. Three key areas are emerging: (1) The role of non-coding (nc)RNAs in epigenetic phenomena including RNA interference, gene co-suppression, gene silencing, imprinting, and DNA methylation. (2) Mutations and rearrangements in non-coding mitochondrial DNA such the mtDNA D loop are found in some carcinomas that may regulate apoptosis susceptibility. (3) Polymorphisms in non-coding regions sometimes far upstream of exons that regulate gene expression and translational initiation. A microRNA directly regulates a gene implicated in human cancers. An increasing number of studies are showing deregulation of microRNAs in cancer associated with loss of suppressor gene function or gain of oncogene function that are associated with patient prognosis. In addition, non-coding RNAs have been shown to contribute to embryonic and tissue stem cell fate, and could potentially regulate the fate of tumour stem cells or “ tumour-initiating cells” in cancer. The increasing evidence for non-coding DNA/RNA governing growth and differentiation clearly indicates that it is time for the world agencies to develop focused PostGenetics R&D policies, such as the IPGS-proposed “ PostGenetics Study Program” , Journal and Conferences, to propel the former field of “ Junk DNA” , coordinating individuals, organizations and disease awareness advocacy groups. It is expected that expansion of Modern Genetics and establishment of PostGenetics as the most rapidly advancing sub-field of Genomics will accelerate understanding of human diseases.

Junk DNA; non-coding RNA; gene regulation

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