Gene splicing could improve pharma understanding of human genome

A better awareness of how gene splicing increases the transcripts in the human genome beyond predicted levels could improve pharma researchers' understanding of the discipline of genomics in general.

Writing in genomics methodology and new research periodical Genome Biology, researchers from INRAN and the Sapienza Universita di Roma explain that many transcripts associated with alternatively spliced protein-coding genes cannot be linked directly with a specific functional protein.

This is in spite of the belief that spliced genes are the explanation for why the genomic sequence appears to be transcribed to an order of magnitude beyond that possible with predicted and characterised genes.

Mass spectrometry allowed alternative splicing human gene isoforms to be analysed for the plausibility of their predicted structure, the presence of uninterrupted functional domains and any active sites.

It is the latter point - and the conservation of those active sites - that offers the best opportunity for pharma researchers to correctly identify translated products, the team concludes.