Editing RNA splicing (section)

==Splicing errors and variation==
It has been suggested that one third of all disease-causing mutations impact on [[Split gene theory|splicing]].<ref name=Lim/> Common errors include:
* Mutation of a splice site resulting in loss of function of that site. Results in exposure of a premature [[stop codon]], loss of an exon, or inclusion of an intron.
* Mutation of a splice site reducing specificity. May result in variation in the splice location, causing insertion or deletion of amino acids, or most likely, a disruption of the [[reading frame]].
* Displacement of a splice site, leading to inclusion or exclusion of more RNA than expected, resulting in longer or shorter exons.
Although many splicing errors are safeguarded by a cellular quality control mechanism termed [[nonsense-mediated mRNA decay]] (NMD),<ref>{{cite journal | vauthors = Danckwardt S, Neu-Yilik G, Thermann R, Frede U, Hentze MW, Kulozik AE | title = Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay | journal = Blood | volume = 99 | issue = 5 | pages = 1811–1816 | date = March 2002 | pmid = 11861299 | doi = 10.1182/blood.V99.5.1811 | s2cid = 17128174 | doi-access = free }}</ref> a number of splicing-related diseases also exist, as suggested above.<ref>{{cite journal | vauthors = Ward AJ, Cooper TA | title = The pathobiology of splicing | journal = The Journal of Pathology | volume = 220 | issue = 2 | pages = 152–163 | date = January 2010 | pmid = 19918805 | pmc = 2855871 | doi = 10.1002/path.2649 }}</ref>

Allelic differences in mRNA splicing are likely to be a common and important source of phenotypic diversity at the molecular level, in addition to their contribution to genetic disease susceptibility. Indeed, genome-wide studies in humans have identified a range of genes that are subject to allele-specific splicing.

In plants, variation for flooding stress tolerance correlated with stress-induced alternative splicing of transcripts associated with gluconeogenesis and other processes.<ref>{{cite journal | vauthors = van Veen H, Vashisht D, Akman M, Girke T, Mustroph A, Reinen E, Hartman S, Kooiker M, van Tienderen P, Schranz ME, Bailey-Serres J, Voesenek LA, Sasidharan R | display-authors = 6 | title = Transcriptomes of Eight Arabidopsis thaliana Accessions Reveal Core Conserved, Genotype- and Organ-Specific Responses to Flooding Stress | journal = Plant Physiology | volume = 172 | issue = 2 | pages = 668–689 | date = October 2016 | pmid = 27208254 | pmc = 5047075 | doi = 10.1104/pp.16.00472 }}</ref>