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Cast of splice1/9/2024 ![]() 3,6,46,53,214 Group I ribozymes were first defined on the basis of their common structural features and Figure 12 shows their general secondary structure, with lowercase letters indicating exons and uppercase letters indicating the intron, and with the cleavage and splicing sites indicated by thick arrows. ![]() 1 This and other ‘group I’ self-splicing ribozymes promote two phosphoester-transfer reactions ( Figure 11(a)) that result in the removal of an intervening sequence and the splicing of adjacent RNA domains. The pre-rRNA of Tetrahymena thermophila was found to undergo ‘self-splicing’ in vitro without the need for a protein catalyst and it was one of the first RNA molecules to be discovered to have enzymatic activity. RNA splicing is a fundamental feature of the processing of RNA in many organisms. This occurs because cells possess mechanisms termed ‘RNA surveillance’ or ‘nonsense-mediated decay’ that can rapidly degrade mRNA containing premature termination codons commonly found in transcripts spliced from cryptic sites. Furthermore, these various RNA molecules can have widely different stabilities that complicate evaluation of the prevalence of use of cryptic splice sites. Therefore, mutations that disrupt normal splicing can induce the formation of novel RNA species, as well as increase the prevalence of normal alternative splicing products that may not encode functional proteins. ![]() Many genes normally produce alternative splice products, most commonly from ‘exon-skipping.’ It is also possible that splicing from a cryptic site occurs normally, but that a mutation can increase the prevalence of its products. The interpretation of these results can be complicated by the presence of multiple RNA species. Detection is usually accomplished by PCR amplification from cDNA followed by nucleotide sequence analysis to characterize the precise primary structure of the RNA splicing junctions. RNA splicing from cryptic sites is commonly identified during research into the biochemical mechanisms of RNA splicing or through the identification of genetic mutations in research and clinical settings. Scholl, in Encyclopedia of Genetics, 2001 Detection of Cryptic Splicing
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