5/23/2023 0 Comments Splice site mutationRoberts and Phillip Allen Sharp received the Nobel Prize in Physiology or Medicine for their discovery of " split genes". Ī visual representation of a splice site mutation instance Background The average vertebrate gene consists of multiple small exons (average size, 137 nucleotides) separated by introns that are considerably larger. These donor sites, or recognition sites, are essential in the processing of mRNA. Acceptor-site and donor-site relating to the splice sites signal to the spliceosome where the actual cut should be made. An intron is separated from its exon by means of the splice site. These changes could result in production of a nonfunctional protein. Mutations in these sequences may lead to retention of large segments of intronic DNA by the mRNA, or to entire exons being spliced out of the mRNA. The splicing process itself is controlled by the given sequences, known as splice-donor and splice-acceptor sequences, which surround each exon. The mutation can be an insertion, deletion, frameshift, etc. The mutation must occur at the specific site at which intron splicing occurs: within non-coding sites in a gene, directly next to the location of the exon. Introns are supposed to be removed, while the exons are expressed. When a splice site mutation occurs, the mRNA transcript possesses information from these introns that normally should not be included. 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. Splice site consensus sequences that drive exon recognition are located at the very termini of introns. Mutation at a location where intron splicing takes placeĪ splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA.
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