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RNA splicing is a vital process in eukaryotic gene expression, involving the removal of introns and joining of exons to form mature mRNA. This process is facilitated by the spliceosome, a complex of snRNPs and proteins. Alternative splicing allows for multiple protein variants from a single gene, adding to proteomic complexity. Splicing defects can lead to genetic disorders, highlighting the importance of accurate RNA processing.
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RNA splicing involves the precise removal of non-coding sequences and ligation of coding sequences, facilitated by the spliceosome complex
Minor Spliceosome
The minor spliceosome operates similarly to the major spliceosome, but is responsible for removing a subset of atypical introns
The origins of RNA splicing are debated, with some theories suggesting it was present in the last universal common ancestor while others propose it emerged later in eukaryotic evolution
Splicing involves a two-step reaction where the branch point adenine attacks the 5' splice site and the two exons are joined by the attack of the 3'OH group
Groups I and II
Self-splicing introns in Groups I and II use mechanisms similar to the spliceosome but do not require additional proteins
Alternative splicing is a regulatory mechanism that allows for the production of multiple protein variants by including or excluding certain exons in the mature mRNA
Splicing defects can lead to genetic disorders by causing the production of aberrant mRNAs that may contain errors
The cell has mechanisms like nonsense-mediated mRNA decay to mitigate the effects of some splicing errors, but many splicing-related diseases still occur
Differences in splicing patterns between individuals can contribute to differences in disease susceptibility and the diversity of the human proteome