Assessing the number of ancestral alternatively spliced exons in the human genome

It is estimated that between 35% and 74% of all human genes undergo alternative splicing. However, as a gene that undergoes alternative splicing can have between one and dozens of alternative exons, the number of alternatively spliced genes by itself is not informative enough. An additional parameter, which was not addressed so far, is therefore the number of human exons that undergo alternative splicing. We have previously described an accurate machine-learning method allowing the detection of conserved alternatively spliced exons without using ESTs, which relies on specific features of the exon and its genomic vicinity that distinguish alternatively spliced exons from constitutive ones.

In this study we use the above-described approach to calculate that 7.2% (+/- 1.1%) of all human exons that are conserved in mouse are alternatively spliced in both species.

This number is the first estimation for the extent of ancestral alternatively spliced exons in the human genome.