Pharmaceutical Business review

ExonHit produces new map for human genome

The impact of this discovery will be important for the future of new treatments involving gene research.

“It is a great achievement for ExonHit, because applications from this work will allow us to increase our presence in our key markets, drug discovery and diagnostics as well as in different areas of genomic research,” said Bruno Tocque, CEO of ExonHit.

The map has been discovered after years of research and includes the uncovering of alternative splicing events which are key components of a set of expressed genes.

Until now, the tools available to the biomedical research community only allowed the detection of a limited number of these transcripts. ExonHit’s new human genome map will allow the scientific community to characterize, rapidly and easily, transcripts expressed from genes of their choice.

From a set of approximately 22,000 human genes and the most recent sequence databases, ExonHit researchers have identified all of the splicing events present in these databases. These 22,000 genes can express over 200,000 messenger RNAs detected for the first time in this research.

These results confirm the high incidence of alternative splicing in the human genome. In 2000, the scientific community had found that 40% of genes express on average 3 transcripts each. Today we know that 80% of genes are affected by splicing, expressing on average over 6 transcripts each.

Alternative RNA splicing is a key step in regulating genome expression and controlling the function of proteins; it explains the significant difference between the number of genes and the much greater variety of proteins which can be observed in human cells. Alternative splicing events can be the cause of diseases, or can occur following an attack or drug administration.

“Spectacular progress has been made over the last 15 years in the field of human genome research. I am very pleased that, following the international community’s work to sequence the human genome, ExonHit has completed this new task in the analysis of gene expression. The tools developed will open new doors for public research programs and will bring new therapeutic targets for the pharmaceutical industry,” said Professor Pierre Chambon, Director of the Strasbourg Genopole, France.