Function determination using Genome-scale Data
That only 1.2% of the human genome encodes proteins was one of the most startling new findings of this century. What does the remaining 98.8% of the genome do, if anything? Annotations of biochemical activity provided by the ENCODE consortium cover 80% of the genome, but these do not pinpoint functional sequence only indicating sequence that has been the substrate of molecular activity. We have been looking into the non-protein-coding portion of the human genome and assessing, using evolutionary models, how much of it is functional. It is clear that the switches (enhancers, insulators, promoters etc) that regulate how genes are expressed are functional, yet they are often not preserved as such over the tens of millions of years that separate different mammalian species. The most ephemeral type of functional sequence is of long noncoding RNAs whose functions mostly remain enigmatic. This talk will start with these evolutionary models, and then will proceed to discuss experimental findings for a handful of new loci that lie outside of the traditional definition of a gene.