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In protein-coding genes, the exons include both the protein-coding sequence and the 5′- and 3′-untranslated regions (UTR). Often the first exon includes both the 5′-UTR and the first part of the coding sequence, but exons containing only regions of 5′-UTR or (more rarely) 3′-UTR occur in some genes, i.e. the UTRs may contain introns. [11]
Exon shuffling was first introduced in 1978 when Walter Gilbert discovered that the existence of introns could play a major role in the evolution of proteins. [3] It was noted that recombination within introns could help assort exons independently and that repetitive segments in the middle of introns could create hotspots for recombination to shuffle the exonic sequences.
An exon junction complex (EJC) is a protein complex which forms on a pre-messenger RNA strand at the junction of two exons which have been joined together during RNA splicing. The EJC has major influences on translation , surveillance , localization of the spliced mRNA , and m 6 A methylation .
Gene structure is the organisation of specialised sequence elements within a gene.Genes contain most of the information necessary for living cells to survive and reproduce. [1] [2] In most organisms, genes are made of DNA, where the particular DNA sequence determines the function of the gene.
Exon trapping is a molecular biology technique to identify potential exons in a fragment of eukaryote DNA of unknown intron-exon structure. [1] This is done to determine if the fragment is part of an expressed gene .
The pre-mRNA introns contains specific sequence elements that are recognized and utilized during spliceosome assembly. These include the 5' end splice site, the branch point sequence, the polypyrimidine tract, and the 3' end splice site. The spliceosome catalyzes the removal of introns, and the ligation of the flanking exons. [citation needed]
Visualization of annotations in a genome browser requires a descriptive output file, which should describe the intron-exon structures of each annotation, their start and stop codons, UTRs and alternative transcripts, and ideally should include information about the sequence alignments and gene predictions that support each gene model.
Much of the focus of exome sequencing in the context of disease diagnosis has been on protein coding "loss of function" alleles. Research has shown, however, that future advances that allow the study of non-coding regions, within and without the exome, may lead to additional abilities in the diagnoses of rare Mendelian disorders. [15]