This gene was evaluated by sequencing the coding region and splice functions in normal and affected family members with familial atrial fibrillation.
This result demonstrates that a single deletion event removing all of the HEG is compatible with retaining splicing function (that is, the HEG and splicing functions are separate).
Furthermore, animal proteins with similar domain organization such as human Tra2a and Trab cannot substitute for the essential splicing function of SR proteins [22].
Recently it has been shown that human satellite III transcripts, induced by stress, recruit the splicing factors to nuclear stress granules regulating in this way splicing function [9], [10].
Also alterations in splicing function has been implicated in many diseases, including neuropathological conditions such as Alzheimer disease, cystic fibrosis, defects in growth and development, and many human cancers [27].
For comparison, we also examined the mRNA levels of a house keeping gene, β-2-microglobulin and a single exon gene Histone 4. These data further demonstrate that RP18 mutation does not cause a major defect in splicing function, nor does it affect the splicing of retina-specific and house-keeping genes (Table 2).
Subsequently, the MRS1 lost its splicing function, which also seems to have been neutral.
SRPKs phosphorylate RS domains at numerous sites altering SR protein subcellular localization and splicing function.
SRPK1 efficiently phosphorylates the eight arginine serine repeats in RS1 driving SRSF1 into the nucleus for subsequent splicing function.
Accordingly, our gene ontology analysis suggests that splicing function may be one of the pathways most affected by cisplatin.
Unlike the endonuclease activity, a complete degeneration of the splicing function is detrimental for the organism because it impairs the function of the host gene.
