In genetics, exinct (short for "extended inhibitory context") is a mutation(?). Genetics (from Ancient Greek grc-Latn genetikos, “genitive” and that from grc-Latn genesis, “origin” a discipline of Biology, is In biology mutations are changes to the Nucleotide sequence of the Genetic material of an organism It was first described by Singh and coworkers to define a negative sequence within the coding region of SMN2 gene. [1][2][3] Thanks to presence of Exinct, SMN2 gene is not able to produce the normal protein. Proteins are large Organic compounds made of Amino acids arranged in a linear chain and joined together by Peptide bonds between the Carboxyl In fact, Exinct causes aberrant splicing of exon 7, leading to the production of a short SMN transcript that makes a truncated non-functional SMN protein. An exon is a Nucleic acid sequence that is represented in the mature form of an RNA molecule after a portions of a precursor RNA Introns have been Inability of SMN2 to make the full-length protein causes spinal muscular atropy, a debalitating disease of children and infant.
References
- ^ An extended inhibitory context causes skipping of ...[Biochem Biophys Res Commun. 2004] - PubMed Result
- ^ The regulation and regulatory activities of altern...[Crit Rev Eukaryot Gene Expr. 2004] - PubMed Result
- ^ In vivo selection reveals combinatorial controls t...[RNA. 2004] - PubMed Result