Splice correction by pseudo-exon skipping was recently demonstrated in a mouse model for XLA, the first in vivo example of splice switching in hematopoietic cells.
As for the three pairs for which the alternative splicing mapped to disordered regions, this suggests a possible explanation for the missing examples of splicing that map to the structures in the PDB.
For example, overexpression of splicing factor SF2/ASF has been shown to trigger malignant transformation [ 5]. snRNP are important components of the spliceosomes in which the pre-mRNA splicing occurs [ 6].
For example, presence of splicing silencers inhibits the splicing of the alternative exon leading to higher inclusion, a shorter alternative exon is more likely to be spliced out, and the strength and position of acceptor and donor sites can lead to different splicing patterns.
Alternatively, these examples of splice site selection variation may still simply reflect tolerable noise in the expression of these genes.
There are many more splice variants which are encoded by the same gene but lack one or more regulatory accessory domains and these are listed in Additional file 2. Additional file 2 also lists few examples of splice variants which are encoded by same gene but their catalytic kinase domain belong to different protein kinase subfamilies.
Here, we consider image splicing as an example; see Fig. 1: Fig. 1 Example of image splicing.
However, there are many cases of introns with weak splice sites that are constitutively spliced, and examples of alternative splicing in which apparently weak splice sites are utlilzed more efficiently than splice sites with stronger matches to the consensus sequence [11], [12].
Although we have not detailed the entire splicing regulatory network, these coherent results indicate a functional role for the ESS and offer an example of aberrant splicing caused by missense mutations that might represent a key determinant of the disease phenotype variability.
b Example of alternative splicing for dark-induced transcripts, Os01g14100.1, Os01g14100.2, and Os01g14100.3.
a Example of alternative splicing for light-induced transcripts, Os01g63270.1 and Os01g63270.2.
