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RNA splicing is a process in molecular biology where a newly-made precursor messenger RNA (pre-mRNA) transcript is transformed into a mature messenger RNA ().It works by removing all the introns (non-coding regions of RNA) and splicing back together exons (coding regions).
Alternative splicing (the re-combination of different exons) is a major source of genetic diversity in eukaryotes. Splice variants have been used to account for the relatively small number of protein coding genes in the human genome , currently estimated at around 20,000.
Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene may be included within or excluded from the final RNA product of the gene. [ 1 ]
Protein splicing is an intramolecular reaction of a particular protein in which an internal protein segment (called an intein) ...
The deletion of the splicing site results in one or more introns remaining in mature mRNA and may lead to the production of abnormal proteins. When a splice site mutation occurs, the mRNA transcript possesses information from these introns that normally should not be included. Introns are supposed to be removed, while the exons are expressed.
3D structure of a hammerhead ribozyme. Ribozymes (ribonucleic acid enzymes) are RNA molecules that have the ability to catalyze specific biochemical reactions, including RNA splicing in gene expression, similar to the action of protein enzymes.
UAP56 is recognized as an RNA helicase but acts as a splicing factor required for early spliceosome assembly. [17] Another factor involved in the EJC pathway is DEK. This component is known to take part in a variety of functions ranging from splicing to transcriptional regulation and chromatin structure. [18] [19] [20]
RNA-Seq has the potential to identify new disease biology, profile biomarkers for clinical indications, infer druggable pathways, and make genetic diagnoses. [ 151 ] [ 152 ] These results could be further personalized for subgroups or even individual patients, potentially highlighting more effective prevention, diagnostics, and therapy.