The splicing process involves the recognition of splice elements by a ribonucleoprotein complex called the spliceosome (13).
For RYR1, the splicing abnormality identified in mouse and human patients was mapped to the zebrafish RYR1 1 gene, with conservation of the basic splice elements.
This strengthens the concept that the search for gene mutations should include careful analysis of non-coding sequences and, in particular, of intronic splice elements.
Mutations within other splice elements, such as the polypyrimidine tract and the branch point, may also cause genetic diseases through the exclusion of a constitutive exon from the mature mRNA (6), but these are less frequent.
Affinity purification of recombinant proteins has been facilitated by fusion to a modified protein splicing element (intein).
In this report, we used an "intein" fusion system to express Cre as a C-terminal fusion to a modified protein splicing element, i.e., intein.
This system utilizes the inducible self-cleavage activity of a protein splicing element (termed intein) to separate the target protein from the affinity intein CBD tag without using any proteases.
The conformational switch places each splicing element into different structural contexts.
Some of these may be false positive mSNPs but for the remainder, the causative SNP may be in an intronic splicing element (intronic splicing elements were not included in the genome-wide scan for srSNPs) or in, as yet, uncharacterized splicing regulatory elements.
ASSEDA calculates R i,total by adding the R i value of a regulatory splicing element to the contributions of constitutive splice sites, and applying a second gap surprisal term based on the frequency of distance from the splicing element to the nearest natural site.
