Director of RIKEN Preventive Medicine and Diagnosis Innovation Program (PMI)
The “omics” approach integrating genomics, transcriptomics into a single data set, can lead to the identification of unknown genomic elements and their regulatory networks which deterministically determine cell characteristics and functions of the hundreds of cell types that make up a mammal.
In 2000, RIKEN has launched FANTOM (Functional Annotation of Mammalian Genome), an international consortium, which is leading transcriptome research in the world. Whereas the human genome project showed what the whole inherited information in the human genome is, the FANTOM project has been showing where genes are and which genes are “active”.
The key technology Cap Analysis of Gene Expression (CAGE), a technology developed at RIKEN that identifies the starting points of RNA transcription, provides genome-wide overview of transcription start sites and their usage in a cell. With this original technology, we identified 180,000 promoters and 44,000 enhancers on the genome across over 180 human primary cells. Analysis of the obtained data led to the new knowledge that the activity of the large majority of these transcriptional regulation regions is highly specific to cell type In this regards, RNA expression profiles obtained by CAGE are deemed to be the “definition” of cellar properties, suggesting CAGE as a tool for exploring potential biomarkers.
In addition, with these findings, we have developed an algorithm which predicts transcription factors required to convert a cell to a specific new fate.
Interestingly the FANTOM5 data set indicated that many disease-related mutations are on enhancers, emphasizing the importance of enhancer identification in functional and clinical genomics.
Professor Hayashizaki’s visit is supported by the Department of Industry Innovation and Science under the Japan Australian Science and Innovation Connect program.