Exinct

In genetics, exinct (short for "extended inhibitory context") is a mutation(?). It was first described by Singh and coworkers to define a negative sequence within the coding region of SMN2 gene. [ [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=14766219&query_hl=2&itool=pubmed_docsum An extended inhibitory context causes skipping of ... [Biochem Biophys Res Commun. 2004 - PubMed Result ] ] [ [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=15663357&query_hl=2&itool=pubmed_docsum The regulation and regulatory activities of altern... [Crit Rev Eukaryot Gene Expr. 2004 - PubMed Result ] ] [ [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=15272122&query_hl=2&itool=pubmed_docsum In vivo selection reveals combinatorial controls t... [RNA. 2004 - PubMed Result ] ] Thanks to presence of Exinct, SMN2 gene is not able to produce the normal protein. 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. Inability of SMN2 to make the full-length protein causes spinal muscular atropy, a debalitating disease of children and infant.

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